{"input": "These results suggest that the inside-out activation of the α5β1-integrin mediated by ERdj3/Prtg/Radil signaling is crucial for proper functions of R-CNCCs, and the deficiency of this pathway causes premature apoptosis of a subset of R-CNCCs and malformation of craniofacial structures.", "output": {"entities": {"gene": [{"text": "ERdj3", "start": 86, "end": 91}], "disease": [{"text": "malformation", "start": 246, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Finally, metformin-based combinatorial therapy effectively blocked tumor growth in xenografts with TKI-resistant cancer cells, which was associated with decreased IL-6 secretion and expression, EMT reversal, and decreased IL-6-signaling activation in vivo.", "output": {"entities": {"gene": [{"text": "EMT", "start": 194, "end": 197}], "disease": [{"text": "resistant cancer", "start": 103, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).", "output": {"entities": {"gene": [{"text": "ODD", "start": 190, "end": 193}], "disease": [{"text": "antisocial behavior", "start": 160, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis.", "output": {"entities": {"gene": [{"text": "AKR1C3", "start": 40, "end": 46}], "disease": [{"text": "endometriosis", "start": 94, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1C3", "start": 40, "end": 46}, "tail": {"text": "endometriosis", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Sciatic nerve injury-induced muscle atrophy as well the reduction in MyoD was attenuated in RFP knockout mice.", "output": {"entities": {"gene": [{"text": "RFP", "start": 92, "end": 95}], "disease": [{"text": "muscle atrophy", "start": 29, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested a hypothesis that the balance of tissue expression of ATRAP and Ang II type 1 receptor is regulated in a tissue-specific manner during the development of hypertension and related cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "ATRAP", "start": 79, "end": 84}], "disease": [{"text": "cardiac hypertrophy", "start": 204, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Responses of neoplastic (PC-3 and CPA) and non-neoplastic (CAPE) prostatic cell lines to epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) were determined using clonogenic and growth curve analysis.", "output": {"entities": {"gene": [{"text": "CAPE", "start": 59, "end": 63}], "disease": [{"text": "non-neoplastic", "start": 43, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "To evaluate and confirm the association between the VEGF-1154G > A polymorphism and spontaneous abortion, we focused on the relationship between four polymorphisms in the VEGF gene (-2578C > A,-1154G > A,-634G > C, and 936C > T) and spontaneously aborted fetuses (SAFs).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 52, "end": 56}], "disease": [{"text": "spontaneous abortion", "start": 84, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Two novel heterozygous missense mutations (p. H42Y and p. V75L) and previously reported heterozygous missense mutation p. Q6H in HESX1 were identified in 3 of 217 patients (1. 4%). All were males with KS.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 129, "end": 134}], "disease": [{"text": "KS", "start": 201, "end": 203}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 129, "end": 134}, "tail": {"text": "KS", "start": 201, "end": 203}}]}}, "schema": []}
{"input": "The anti-TB drugs interactions with smoking on hepatotoxicity, as well as the NAT2 phenotype, may require to adjust therapeutic regimen dosages or alarm in case of adverse event developments.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 78, "end": 82}], "disease": [{"text": "smoking", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "FLCs contain mutations and chromosomal aberrations not previously associated with liver cancer, and almost 80% contain the DNAJB1-PRKACA fusion transcript.", "output": {"entities": {"gene": [{"text": "DNAJB1", "start": 123, "end": 129}], "disease": [{"text": "chromosomal aberrations", "start": 27, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that knock down of CIAPIN1 by adenovirus-delivered siRNA may be a potential therapeutic strategy for treatment of HCC in which CIAPIN1 is overexpressed.", "output": {"entities": {"gene": [{"text": "HCC", "start": 136, "end": 139}], "disease": [{"text": "adenovirus", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Colonization rates of H. pylori, degree of gastric inflammation and other pathological changes including atrophic gastritis and metaplasia, serum levels and mRNA transcripts of various mouse cytokines and chemokines, and NF-kappaB binding activities, and finally the presence of gastric adenocarcinoma were compared between H. pylori infected group (HP), and H. pylori infected group administered with long-term rebamipide containing pellet diets (HPR) or nimesulide mixed pellets (HPN).", "output": {"entities": {"gene": [{"text": "HPR", "start": 448, "end": 451}], "disease": [{"text": "metaplasia", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In contrast to TAC, antagonizing the function of CTGF had no effect on LV dysfunction or LV hypertrophy in mice subjected to 4-week angiotensin II infusion.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 132, "end": 146}], "disease": [{"text": "LV hypertrophy", "start": 89, "end": 103}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 132, "end": 146}, "tail": {"text": "LV hypertrophy", "start": 89, "end": 103}}]}}, "schema": []}
{"input": "Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.", "output": {"entities": {"gene": [{"text": "aspartoacylase", "start": 21, "end": 35}], "disease": [{"text": "Canavan disease", "start": 75, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aspartoacylase", "start": 21, "end": 35}, "tail": {"text": "Canavan disease", "start": 75, "end": 90}}]}}, "schema": []}
{"input": "The pathogenesis of DC, as well as several congenital bone marrow failure (BMF) syndromes, converges on the DNA damage response (DDR) pathway and subsequent elevation of reactive oxygen species (ROS).", "output": {"entities": {"gene": [{"text": "DDR", "start": 129, "end": 132}], "disease": [{"text": "bone marrow failure", "start": 54, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "This amino acid substitution occurs within a highly conserved region of the extracellular domain of CD18 in which several other mutations have been identified in LAD.", "output": {"entities": {"gene": [{"text": "CD18", "start": 100, "end": 104}], "disease": [{"text": "LAD", "start": 162, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD18", "start": 100, "end": 104}, "tail": {"text": "LAD", "start": 162, "end": 165}}]}}, "schema": []}
{"input": "When proteasome activity is blocked in the presence of wild-type DJ-1, TTRAP forms aggregates that are localized to the cytoplasm or associated to nucleolar cavities, where it is required for a correct rRNA biogenesis.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 65, "end": 69}], "disease": [{"text": "cavities", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Skin expression of the TGFbeta-regulated genes cartilage oligomeric matrix protein (COMP) and thrombospondin 1 (TSP-1) correlated moderately well with the MRSS, but the addition of other TGFbeta-regulated genes failed to significantly improve best-fit models.", "output": {"entities": {"gene": [{"text": "COMP", "start": 84, "end": 88}], "disease": [{"text": "fit", "start": 248, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "In this study we describe a new dominant point mutation in COL1A1 causing a lethal form of Osteogenesis imperfecta (type II B).", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 59, "end": 65}], "disease": [{"text": "Osteogenesis imperfecta (type II", "start": 91, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A1", "start": 59, "end": 65}, "tail": {"text": "Osteogenesis imperfecta (type II", "start": 91, "end": 123}}]}}, "schema": []}
{"input": "Hemochromatosis mice, cytomegalovirus (CMV) infection of retina, expression of CMV-US2 in RPE, and exposure of RPE to ferric ammonium citrate (FAC) were used to examine the iron-dependent regulation of GPR91 expression.", "output": {"entities": {"gene": [{"text": "US2", "start": 83, "end": 86}], "disease": [{"text": "cytomegalovirus", "start": 22, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "No statistically significant differences in the genotype and allele frequency of IL4 and IL10 gene polymorphisms between symptomatic and asymptomatic patients were observed.", "output": {"entities": {"gene": [{"text": "IL4", "start": 81, "end": 84}], "disease": [{"text": "asymptomatic", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In addition, Skp2 expression correlates with tumor dedifferentiation and may contribute to biological aggression in HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 116, "end": 119}], "disease": [{"text": "aggression", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "MET-1 also preserved cecum tight junction protein expression, and reduced S. typhimurium translocation to the spleen.", "output": {"entities": {"gene": [{"text": "MET", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Administration of puerarin also effectively rectified the coagulation disorder in asthmatic rats, such as prothrombin time (PT) (P < 0. 01), thrombin time (TT) (P < 0. 05), fibrinogen (FIB) (P < 0. 01), the activity of factor II (FII) (P < 0. 01), the activity of factor V (FV) (P < 0. 05), the activity of factor VII (FVII) (P < 0. 05), the activity of factor X (FX) (P < 0. 05), the activity of factor VIII (FVIII) (P < 0. 01), the activity of factor IX (FIX) (P < 0. 05), and the activity of factor XII (FXII) (P < 0. 05).", "output": {"entities": {"gene": [{"text": "factor II", "start": 219, "end": 228}], "disease": [{"text": "fibrinogen", "start": 173, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that Npas4 may play a major role in the regulation of cognitive and social functions in the brain with possible implications for developmental disorders such as schizophrenia and autism.", "output": {"entities": {"gene": [{"text": "Npas4", "start": 25, "end": 30}], "disease": [{"text": "schizophrenia", "start": 181, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Npas4", "start": 25, "end": 30}, "tail": {"text": "schizophrenia", "start": 181, "end": 194}}]}}, "schema": []}
{"input": "We found that meclozine, an anti-histamine drug that has long been used for motion sickness, facilitates chondrocyte proliferation and mitigates loss of extracellular matrix in FGF2-treated rat chondrosarcoma (RCS) cells.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 177, "end": 181}], "disease": [{"text": "motion sickness", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "IL-15-dependent activation-induced cell death-resistant Th1 type CD8 alpha beta + NK1. 1 + T cells for the development of small intestinal inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 56, "end": 59}], "disease": [{"text": "inflammation", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The fundus of gp130 (F/F)/Tff2 (-/-) mice displayed glandular atrophy and metaplasia, indicating accelerated preneoplasia.", "output": {"entities": {"gene": [{"text": "gp130", "start": 14, "end": 19}], "disease": [{"text": "atrophy", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We observed that somatic MSH2 hypermethylation was present in 24% (11 of 46) of MSH2-deficient (presumed Lynch syndrome) tumors, whereas no evidence for MSH2 methylation existed in sporadic CRCs (MSI and microsatellite stable) or normal colonic tissues.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 25, "end": 29}], "disease": [{"text": "sporadic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "In addition, inhibition of Nrf2 greatly suppressed in vitro and in vivo tumor growth of DU-145 prostate cancer cells.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 27, "end": 31}], "disease": [{"text": "prostate cancer", "start": 95, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nrf2", "start": 27, "end": 31}, "tail": {"text": "prostate cancer", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "Genomic DNA samples from 93 sporadic colorectal adenocarcinoma cases and 95 healthy controls (age and ethnicity matched) were used to genotype the p53 codon 72 polymorphism.", "output": {"entities": {"gene": [{"text": "p53", "start": 147, "end": 150}], "disease": [{"text": "sporadic", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Myeloid neoplasm with eosinophilia and abnormalities of Alpha type platelet derived growth factor receptor (PDGFRA) is a type of hypereosinophilic syndrome characterized by multiorgan damage due to eosinophilia.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 108, "end": 114}], "disease": [{"text": "abnormalities", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We investigated the patterns of blood count, surface antigen, expression, chromosome aberrations, PML-RARa isoform, gene expression profile (GEP) and survival in 34 APL patients according to FLT3-ITD status.", "output": {"entities": {"gene": [{"text": "GEP", "start": 141, "end": 144}], "disease": [{"text": "chromosome aberrations", "start": 74, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest an important role for BRCA2 in the development and progression of sporadic male breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 45, "end": 50}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Differences in PEDF observed after weight loss were related to changes in obesity, insulin resistance, and blood pressure measures.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 15, "end": 19}], "disease": [{"text": "blood pressure", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We have previously described two missense mutations in the UROIIIS gene, confirming that the primary defect responsible for CEP is a structural alteration of this gene.", "output": {"entities": {"gene": [{"text": "UROIIIS", "start": 59, "end": 66}], "disease": [{"text": "CEP", "start": 124, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UROIIIS", "start": 59, "end": 66}, "tail": {"text": "CEP", "start": 124, "end": 127}}]}}, "schema": []}
{"input": "We investigated two single nucleotide polymorphisms of the NOS3 gene in type 2 diabetic patients (n = 93) and healthy non-diabetic controls (n = 76) and their relationship with smoking habits, body mass index, hypertension and dyslipidemia.", "output": {"entities": {"gene": [{"text": "NOS3 gene", "start": 59, "end": 68}], "disease": [{"text": "body mass index", "start": 193, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Riluzole' s therapeutic potential for treating mood disorders may involve GLT-1 and BDNF, and we suggest this protocol could be used to further characterize its precise long-term biochemical mechanisms of action in animal models of depression.", "output": {"entities": {"gene": [{"text": "GLT-1", "start": 74, "end": 79}], "disease": [{"text": "depression", "start": 232, "end": 242}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLT-1", "start": 74, "end": 79}, "tail": {"text": "depression", "start": 232, "end": 242}}]}}, "schema": []}
{"input": "The cooperative action between T cell activation and MKK6-mediated DC activation by Ni played an important role in the development of Ni allergy.", "output": {"entities": {"gene": [{"text": "MKK6", "start": 53, "end": 57}], "disease": [{"text": "allergy", "start": 137, "end": 144}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MKK6", "start": 53, "end": 57}, "tail": {"text": "allergy", "start": 137, "end": 144}}]}}, "schema": []}
{"input": "The absence of either CD8 + or CD20 + cells during the SHIV (DH12R-Clone 8) acute infection resulted in the rapid, complete, and irreversible loss of CD4 + T cells; sustained high levels of postpeak plasma viremia; and symptomatic disease in Mamu-A * 01-negative Indian rhesus monkeys.", "output": {"entities": {"gene": [{"text": "CD4", "start": 150, "end": 153}], "disease": [{"text": "viremia", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our study strengthens the notion that laforin and malin are pro-survival factors, and that the activation of Hipk2-p53 cell death pathway might underlie neurodegeneration in LD.", "output": {"entities": {"gene": [{"text": "p53", "start": 131, "end": 134}], "disease": [{"text": "neurodegeneration", "start": 169, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.", "output": {"entities": {"gene": [{"text": "NF1", "start": 31, "end": 34}], "disease": [{"text": "neurofibromatosis type I", "start": 43, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 31, "end": 34}, "tail": {"text": "neurofibromatosis type I", "start": 43, "end": 67}}]}}, "schema": []}
{"input": "The aim of the study was to determine the relationship between the C825T polymorphism of the gene encoding for the G protein beta3 subunit (GNB3 C825T) and vascular hypertrophy.", "output": {"entities": {"gene": [{"text": "beta3", "start": 125, "end": 130}], "disease": [{"text": "hypertrophy", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Results showed that high expression of miR-221 was exhibited in ARC tissues compared with that in normal samples and associated with Lens Opacities Classification System III grades.", "output": {"entities": {"gene": [{"text": "miR-221", "start": 39, "end": 46}], "disease": [{"text": "Lens Opacities", "start": 133, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-221", "start": 39, "end": 46}, "tail": {"text": "Lens Opacities", "start": 133, "end": 147}}]}}, "schema": []}
{"input": "Loci on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a primary constituent of semen and a proposed prostate cancer biomarker, and CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer.", "output": {"entities": {"gene": [{"text": "JAZF1", "start": 227, "end": 232}], "disease": [{"text": "endometrial cancer", "start": 316, "end": 334}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JAZF1", "start": 227, "end": 232}, "tail": {"text": "endometrial cancer", "start": 316, "end": 334}}]}}, "schema": []}
{"input": "The following biomarkers were used: heat shock protein 70 (Hsp70, a molecular chaperone), glial cell line-derived nerve growth factor (GDNF, a growth factor promoting neuronal differentiation, regeneration, and survival), and neural cell adhesion molecule (NCAM).", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 59, "end": 64}], "disease": [{"text": "shock", "start": 41, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression of Slit2 activated Slit2/Robo1 signaling and promoted tumorigenesis and tumor growth.", "output": {"entities": {"gene": [{"text": "Robo1", "start": 44, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Eligible patients underwent RFA for BE containing early cancer and/or high-grade intraepithelial neoplasia with subsequent complete histological reversion to normal NSE.", "output": {"entities": {"gene": [{"text": "NSE", "start": 165, "end": 168}], "disease": [{"text": "intraepithelial neoplasia", "start": 81, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Translesion synthesis (TLS) polymerases enable cells to bypass or overcome DNA damage during DNA replication and contributes to genomic instability and cancer.", "output": {"entities": {"gene": [{"text": "TLS", "start": 23, "end": 26}], "disease": [{"text": "genomic instability", "start": 128, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion.", "output": {"entities": {"gene": [{"text": "Choline kinase beta", "start": 0, "end": 19}], "disease": [{"text": "MDCMC", "start": 108, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Choline kinase beta", "start": 0, "end": 19}, "tail": {"text": "MDCMC", "start": 108, "end": 113}}]}}, "schema": []}
{"input": "To evaluate the roles of P-D-xylosyltransferase I (XT-I) and beta-D-endoglycosidase heparanase (Hpa) in renal tissue with the development of adriamycin (ADR) nephropathy and relevance for proteinuria.", "output": {"entities": {"gene": [{"text": "XT-I", "start": 51, "end": 55}], "disease": [{"text": "proteinuria", "start": 188, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "A diagnosis of T cell large granular lymphocyte (T-LGL) leukemia was made, based on cytomorphology, the typical CD3 +/CD4-/CD8 +/CD16 +/CD56-/CD57-/HLA-DR (+/-) immunophenotype of the lymphocytosis (9 x 10 (9)/l), and biallelic clonally rearranged T cell receptor beta (TCR beta) genes.", "output": {"entities": {"gene": [{"text": "CD4", "start": 118, "end": 121}], "disease": [{"text": "leukemia", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the polyclonal antibody specific to Nectin-2 suppressed the in vitro proliferation of OV-90 ovarian cancer cells, which express endogenous Nectin-2 on the cell surface.", "output": {"entities": {"gene": [{"text": "Nectin-2", "start": 49, "end": 57}], "disease": [{"text": "ovarian cancer", "start": 105, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nectin-2", "start": 49, "end": 57}, "tail": {"text": "ovarian cancer", "start": 105, "end": 119}}]}}, "schema": []}
{"input": "SHOX point mutations in dyschondrosteosis.", "output": {"entities": {"gene": [{"text": "SHOX", "start": 0, "end": 4}], "disease": [{"text": "dyschondrosteosis", "start": 24, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SHOX", "start": 0, "end": 4}, "tail": {"text": "dyschondrosteosis", "start": 24, "end": 41}}]}}, "schema": []}
{"input": "In tumor cell lines, colorectal cancer cells SW480, SW620, SW1116 and Colo205, breast cancer cell Bcap37 and gastric cancer cells MKN28 and SGC7901 showed high levels of SNC19 expression; cervical cancer cell HeLa-S3, lung cancer PAA, oral epithelial cancer cell KB and lymphoma cell Raji showed moderate levels of SNC19 expression; and tongue squamous cancer cell Tca8113, leukemia cells HL-60, K562, MOLT-4, lung cancer cell A549 and melanoma cell G361 showed very low levels of SNC19 expression.", "output": {"entities": {"gene": [{"text": "SNC19", "start": 170, "end": 175}], "disease": [{"text": "cervical cancer", "start": 188, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Individuals homozygous for the C282Y mutation in the HFE gene have abnormal transferrin saturation and serum ferritin values relative to the reference population; penetrance with the compound heterozygotes, as reflected by abnormal transferrin and ferritin values, is less than with the homozygotes.", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 53, "end": 61}], "disease": [{"text": "abnormal transferrin saturation", "start": 67, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Silencing the expression of ATRIP by RNA interference abolished hypoxia induced ATR activation and CHK1 phosphorylation in cancer cells.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 99, "end": 103}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Decreased platelet glycoprotein Ib, IIb, IIIa, and IIb/IIIa and vitronectin receptor expression were observed in the stroke patient.", "output": {"entities": {"gene": [{"text": "vitronectin receptor", "start": 64, "end": 84}], "disease": [{"text": "stroke", "start": 117, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vitronectin receptor", "start": 64, "end": 84}, "tail": {"text": "stroke", "start": 117, "end": 123}}]}}, "schema": []}
{"input": "IMPACT: We examined the association of 14 established breast cancer susceptibility loci with mammographic density phenotypes within a large genetic consortium and identified two breast cancer susceptibility variants, LSP1-rs3817198 and RAD51L1-rs10483813, associated with mammographic measures and in the same direction as the breast cancer association.", "output": {"entities": {"gene": [{"text": "LSP1", "start": 217, "end": 221}], "disease": [{"text": "mammographic density", "start": 93, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We have used the GABA (A) receptors of hippocampal area CA1 pyramidal cells to sense the rise of [GABA] (o) occurring in simulated ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 56, "end": 59}], "disease": [{"text": "ischemia", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that LYL1 may play a role in early hematopoiesis and may be a potential oncogenic factor in AML.", "output": {"entities": {"gene": [{"text": "LYL1", "start": 31, "end": 35}], "disease": [{"text": "AML", "start": 118, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LYL1", "start": 31, "end": 35}, "tail": {"text": "AML", "start": 118, "end": 121}}]}}, "schema": []}
{"input": "Interestingly, Ad-PUMA was found to be more efficient than Ad-p53 in inhibiting cell growth and enhancing the chemosensitivity of esophageal cancer cell lines irrespective of the p53 status.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 18, "end": 22}], "disease": [{"text": "esophageal cancer", "start": 130, "end": 147}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PUMA", "start": 18, "end": 22}, "tail": {"text": "esophageal cancer", "start": 130, "end": 147}}]}}, "schema": []}
{"input": "In this series of 28 high-grade serous carcinomas, gross genomic alteration characterized by aneuploidy did not correlate with BRCA1 status.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 127, "end": 132}], "disease": [{"text": "aneuploidy", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These results imply that systemic elevation of LPL expression may be potentially useful for the treatment of hyperlipidemias, obesity, and insulin resistance.", "output": {"entities": {"gene": [{"text": "LPL", "start": 47, "end": 50}], "disease": [{"text": "insulin resistance", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Neither smoking nor NAT2 status was independently associated with breast cancer risk.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 20, "end": 24}], "disease": [{"text": "smoking", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "The biological mechanism underlying the association between UMOD risk variants and susceptibility to CKD and hypertension was not understood until last year, when the link between UMOD and hypertension was found to be caused by overactivation of the TAL sodium-potassium-chloride co-transporter NKCC2, pointing to UMOD as a therapeutic target for lowering blood pressure and preserving renal function.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 295, "end": 300}], "disease": [{"text": "blood pressure", "start": 356, "end": 370}]}, "relations": {}}, "schema": []}
{"input": "ARF peptide treatment also induced apoptosis of several distinct human hepatoma cell lines, which correlated with reduced protein levels of the mitotic regulatory genes encoding polo-like kinase 1, aurora B kinase, and survivin, all of which are transcriptional targets of FoxM1 that are highly expressed in cancer cells and function to prevent apoptosis.", "output": {"entities": {"gene": [{"text": "FoxM1", "start": 273, "end": 278}], "disease": [{"text": "hepatoma", "start": 71, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FoxM1", "start": 273, "end": 278}, "tail": {"text": "hepatoma", "start": 71, "end": 79}}]}}, "schema": []}
{"input": "Systematic examination of protein depositions revealed parenchymal amyloid-β in 53. 8%, amyloid angiopathy (Aβ) in 23. 1%, phospho-tau immunoreactive neuritic profiles in 92. 3%, neurofibrillary degeneration in 38. 4%, new types of tau pathology in 33. 3%, and Lewy-type α-synuclein pathology in 15. 4%.", "output": {"entities": {"gene": [{"text": "α-synuclein", "start": 271, "end": 282}], "disease": [{"text": "amyloid angiopathy", "start": 88, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both IFN-alpha/beta and IFN-gamma.", "output": {"entities": {"gene": [{"text": "IFN", "start": 158, "end": 161}], "disease": [{"text": "primary immunodeficiency", "start": 52, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In combined pituitary hormone deficiency or in complex syndromic CHH in which gonadotropin deficiency is either incidental or only one aspect of a more complex endocrine disorder or a non-endocrine disorder, other mutations affecting GNRH and/or gonadotropin secretion have been reported.", "output": {"entities": {"gene": [{"text": "GNRH", "start": 234, "end": 238}], "disease": [{"text": "endocrine disorder", "start": 160, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The endometrium fails to decidualize without SRC-2, which accounts for the infertility phenotype exhibited by mice devoid of this coregulator.", "output": {"entities": {"gene": [{"text": "SRC", "start": 45, "end": 48}], "disease": [{"text": "infertility", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "SKI mRNA and protein levels dramatically increase during human melanoma tumor progression.", "output": {"entities": {"gene": [{"text": "SKI", "start": 0, "end": 3}], "disease": [{"text": "tumor progression", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity for ACE D or PAI-1 4G polymorphisms as well as compound carrier status are significant positive explanatory variable for PCOS patients with SAB, which may result in increased PAI-1 concentrations and hypofibrinolysis and contribute to early pregnancy loss.", "output": {"entities": {"gene": [{"text": "SAB", "start": 153, "end": 156}], "disease": [{"text": "early pregnancy loss", "start": 248, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry indicated that the expression of VCAM-1 was reduced in the ICP group compared to that in control group.", "output": {"entities": {"gene": [{"text": "VCAM-1", "start": 54, "end": 60}], "disease": [{"text": "ICP", "start": 80, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VCAM-1", "start": 54, "end": 60}, "tail": {"text": "ICP", "start": 80, "end": 83}}]}}, "schema": []}
{"input": "The hypoxic induction of PFKFB4 mRNA was equivalent to the expression of PFKFB3, Glut1, and VEGF, which are known HIF-1-dependent genes.", "output": {"entities": {"gene": [{"text": "PFKFB3", "start": 73, "end": 79}], "disease": [{"text": "hypoxic", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "However, in multivariate analyses, SHBG levels varied significantly with rs1799941 and rs727428 genotype after controlling for body mass index, non-SHBG-bound testosterone, and homeostasis model for insulin resistance.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 35, "end": 39}], "disease": [{"text": "body mass index", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In a prospective study, 68 HCV related HCC, 55 HCV related chronic hepatitis, and 68 HCV related patients with cirrhosis were included.", "output": {"entities": {"gene": [{"text": "HCC", "start": 39, "end": 42}], "disease": [{"text": "chronic hepatitis", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We have identified a third Ewing' s sarcoma translocation, the t (7; 22) (p22; q12), that fuses EWS to the human homologue of the murine ETS gene ER81.", "output": {"entities": {"gene": [{"text": "EWS", "start": 96, "end": 99}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Mice received either no treatment or intra tumor IFN-gamma and/or intra peritoneal TMX.", "output": {"entities": {"gene": [{"text": "TMX", "start": 83, "end": 86}], "disease": [{"text": "tumor", "start": 43, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Death-associated protein kinase 1 (DAPK) is an important serine/threonine kinase involved in various cellular processes, including apoptosis, autophagy, and inflammation.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 57, "end": 80}], "disease": [{"text": "inflammation", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "High molecular response rate and clinical correlation in patients with follicular lymphoma treated with cyclophosphamide-vincristine-prednisone plus interferon alpha 2b.", "output": {"entities": {"gene": [{"text": "interferon alpha 2b", "start": 149, "end": 168}], "disease": [{"text": "follicular lymphoma", "start": 71, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon alpha 2b", "start": 149, "end": 168}, "tail": {"text": "follicular lymphoma", "start": 71, "end": 90}}]}}, "schema": []}
{"input": "This study demonstrates that B10 transplantation inhibits NF-κB activation, possibly through inhibition of CD40 and TLR2, which might be responsible for the inhibition of proinflammatory gene expression in macrophage/microglia in the infarct lesion.", "output": {"entities": {"gene": [{"text": "CD40", "start": 107, "end": 111}], "disease": [{"text": "infarct", "start": 234, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "We report a novel transthyretin variant, Gly53Ala, in a 44-year-old British woman who presented with severe episodic headaches, often with focal neurological deficit, before developing progressive ataxia, depression, dementia and eventually peripheral neuropathy.", "output": {"entities": {"gene": [{"text": "transthyretin", "start": 18, "end": 31}], "disease": [{"text": "depression", "start": 205, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transthyretin", "start": 18, "end": 31}, "tail": {"text": "depression", "start": 205, "end": 215}}]}}, "schema": []}
{"input": "The expression of the BAD-mediated apoptotic pathway was associated with the development and/or progression of ovarian (n = 106, p < 0. 001), breast (n = 185, p < 0. 0008; n = 61, p = 0. 04), colon (n = 22, p < 0. 001) and endometrial (n = 33, p < 0. 001) cancers, as well as with ovarian endometriosis (n = 20, p < 0. 001).", "output": {"entities": {"gene": [{"text": "BAD", "start": 22, "end": 25}], "disease": [{"text": "ovarian endometriosis", "start": 281, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "Given the neuroprotective role attributed to this inhibitory cytokine, our results suggest that the down-regulation of TGF-beta 1 may lead to various neurotoxic insults potentially involved in the etiology of certain mood disorders.", "output": {"entities": {"gene": [{"text": "TGF-beta 1", "start": 119, "end": 129}], "disease": [{"text": "mood disorders", "start": 217, "end": 231}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF-beta 1", "start": 119, "end": 129}, "tail": {"text": "mood disorders", "start": 217, "end": 231}}]}}, "schema": []}
{"input": "PRRT2 mutations co-segregated with PKD in two families and occurred in two sporadic cases of PKD.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The cyclin-dependent kinase inhibitor p21Cip1/Waf1/Sdi1 protects the lung against hyperoxia, but the mechanism of protection remains unclear because loss of p21 does not lead to aberrant cell proliferation.", "output": {"entities": {"gene": [{"text": "cyclin-dependent kinase inhibitor", "start": 4, "end": 37}], "disease": [{"text": "hyperoxia", "start": 82, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Bap1 is essential for kidney function and cooperates with Vhl in renal tumorigenesis.", "output": {"entities": {"gene": [{"text": "Bap1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, JAM-C/B blocking antibodies impair in vivo glioma growth and invasion, highlighting the potential of JAM-C and JAM-B as new targets for the treatment of human gliomas.", "output": {"entities": {"gene": [{"text": "JAM-B", "start": 124, "end": 129}], "disease": [{"text": "gliomas", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 27, "end": 52}], "disease": [{"text": "acute intermittent porphyria", "start": 61, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 27, "end": 52}, "tail": {"text": "acute intermittent porphyria", "start": 61, "end": 89}}]}}, "schema": []}
{"input": "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).", "output": {"entities": {"gene": [{"text": "CERKL", "start": 12, "end": 17}], "disease": [{"text": "RP26", "start": 104, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CERKL", "start": 12, "end": 17}, "tail": {"text": "RP26", "start": 104, "end": 108}}]}}, "schema": []}
{"input": "EWS/FLI-1 is a chimeric protein formed by a tumor-specific 11; 22 translocation found in both Ewing' s sarcoma and primitive neuroectodermal tumor of childhood.", "output": {"entities": {"gene": [{"text": "EWS", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus.", "output": {"entities": {"gene": [{"text": "keratin 4", "start": 60, "end": 69}], "disease": [{"text": "white sponge nevus", "start": 97, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 4", "start": 60, "end": 69}, "tail": {"text": "white sponge nevus", "start": 97, "end": 115}}]}}, "schema": []}
{"input": "We propose that dysregulation of mRNA splicing frequently generates an aberrant FGFR3 transcript that may confer a selectable advantage on clones of cells in colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 80, "end": 85}], "disease": [{"text": "tumorigenesis", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "A blood sample was collected from subjects and genotypes for p22phox (CYBA) NADPH oxidase, FP, Fcalpha and Fcgamma receptors were analysed in a blind fashion.", "output": {"entities": {"gene": [{"text": "CYBA", "start": 70, "end": 74}], "disease": [{"text": "blind", "start": 144, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "A possible molecular mechanism for SORCS3 in synaptic depression was suggested by targeted proteomics approaches that identified the ability of SORCS3 to functionally interact with PICK1, an adaptor that sorts glutamate receptors at the postsynapse.", "output": {"entities": {"gene": [{"text": "PICK1", "start": 181, "end": 186}], "disease": [{"text": "depression", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.", "output": {"entities": {"gene": [{"text": "HNRPA3", "start": 347, "end": 353}], "disease": [{"text": "SZ", "start": 71, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HNRPA3", "start": 347, "end": 353}, "tail": {"text": "SZ", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 230, "end": 236}], "disease": [{"text": "hyperlipidemia", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Relevance of translocation type in myxoid liposarcoma and identification of a novel EWSR1-DDIT3 fusion.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 84, "end": 89}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "S. typhimurium A1-R was effective against primary bone tumor and lung metastasis expressing RFP in a nude mouse model.", "output": {"entities": {"gene": [{"text": "RFP", "start": 92, "end": 95}], "disease": [{"text": "bone tumor", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Although nerve growth factor (NGF) is a well-known neurotrophic factor, it also acts as a mediator of pain, itch and inflammation.", "output": {"entities": {"gene": [{"text": "NGF", "start": 30, "end": 33}], "disease": [{"text": "itch", "start": 108, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We identified a G to A transition, resulting in a Glu506Lys substitution in the PRKAG2 gene in 8 of the family members, who all had cardiac hypertrophy and ventricular pre-excitation.", "output": {"entities": {"gene": [{"text": "PRKAG2 gene", "start": 80, "end": 91}], "disease": [{"text": "cardiac hypertrophy", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "To clarify this hypothesis, the effects of hypoxia on the growth responses to hormonal agents and the expression levels of estrogen receptor (ER)-alpha and progesterone receptor (PgR) were investigated in two human breast cancer cell lines, ML-20 and KPL-1.", "output": {"entities": {"gene": [{"text": "progesterone receptor", "start": 156, "end": 177}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Using transcranial magnetic stimulation (TMS), we investigated whether BDNF polymorphism influences cortical plastic changes in acute stroke.", "output": {"entities": {"gene": [{"text": "TMS", "start": 41, "end": 44}], "disease": [{"text": "acute stroke", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings define the localization of SK1 in lung and provide clues as to how SK1 may play a role in normal lung physiology and the pathophysiology of lung cancer.", "output": {"entities": {"gene": [{"text": "SK1", "start": 58, "end": 61}], "disease": [{"text": "lung cancer", "start": 171, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that common genetic variations in GSTM1, GSTT1, and GPX1 are not associated with bladder cancer risk overall and that well-known environmental risk factors, such as smoking and SH infection, do not interact with these genes to modulate the risk.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 73, "end": 77}], "disease": [{"text": "smoking", "start": 186, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "The XFC group was also much better than the TPT group in improving pulmonary function, FoxP3 mRNA, IFN-gamma, IL-4, Th1/Th2, and IL-10 (P < 0. 05 or P < 0. 01).", "output": {"entities": {"gene": [{"text": "IL-10", "start": 129, "end": 134}], "disease": [{"text": "pulmonary function", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1, possibly providing new insights into genotype-phenotype comparisons.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 84, "end": 88}], "disease": [{"text": "MFS", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 84, "end": 88}, "tail": {"text": "MFS", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.", "output": {"entities": {"gene": [{"text": "BLK", "start": 146, "end": 149}], "disease": [{"text": "SLE", "start": 78, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLK", "start": 146, "end": 149}, "tail": {"text": "SLE", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "SAMP1/YitFc (SAMP) mice develop chronic ileitis similar to human CD.", "output": {"entities": {"gene": [{"text": "SAMP", "start": 0, "end": 4}], "disease": [{"text": "ileitis", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of the Val66Met gene polymorphism in the Brain-Derived Neurotrophic Factor (BDNF) gene with aggressive behavior among Southern Han Chinese schizophrenia patients.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 108, "end": 112}], "disease": [{"text": "aggressive behavior", "start": 124, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We performed a mutational analysis of SUMF1 in 20 MSD patients of different ethnic origin.", "output": {"entities": {"gene": [{"text": "SUMF1", "start": 38, "end": 43}], "disease": [{"text": "MSD", "start": 50, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUMF1", "start": 38, "end": 43}, "tail": {"text": "MSD", "start": 50, "end": 53}}]}}, "schema": []}
{"input": "During the acute-phase response the plasma concentration of AAT increases approximately 3-fold and this effect is mediated primarily by interleukin-6 (IL-6).", "output": {"entities": {"gene": [{"text": "AAT", "start": 60, "end": 63}], "disease": [{"text": "acute-phase response", "start": 11, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "In contrast, mRNA expression of integrin GPVI and the integrin complexes GPIa/IIa, GPIIb/IIIa, GPIB/GPIX/GPV was significantly down-regulated and corresponding antibodies were detected in 7 of 11 profiled patients and in 11 of 19 aplastic anemia patients.", "output": {"entities": {"gene": [{"text": "GPVI", "start": 41, "end": 45}], "disease": [{"text": "aplastic anemia", "start": 230, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Remarkably, E-cadherin nuclear translocation and enhanced expression of active PS1 were found in a patient with colorectal signet-ring cell carcinoma.", "output": {"entities": {"gene": [{"text": "PS1", "start": 79, "end": 82}], "disease": [{"text": "signet-ring cell carcinoma", "start": 123, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest a novel and critical role of TIP30 involved in HCC progression and aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 83, "end": 86}], "disease": [{"text": "aggressiveness", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "BMPs can reduce bone mass by inducing osteoclastogenesis via the RANKL-OPG pathway, which is a critical regulator of osteoclasts by osteoblasts.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 65, "end": 70}], "disease": [{"text": "bone mass", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Our data showed that overexpression of miR-122 in HCC cells induced by adenovirus expressing miR-122 could render cell sensitive to ADM or VCR.", "output": {"entities": {"gene": [{"text": "HCC", "start": 50, "end": 53}], "disease": [{"text": "adenovirus", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS.", "output": {"entities": {"gene": [{"text": "SCARF2", "start": 97, "end": 103}], "disease": [{"text": "VDEGS", "start": 133, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCARF2", "start": 97, "end": 103}, "tail": {"text": "VDEGS", "start": 133, "end": 138}}]}}, "schema": []}
{"input": "The present study indicates that atopy is importantly influenced by interleukin 13 at age 1-8 yrs and by CD14 in interaction with pet exposure at ages 4 and 8 yrs.", "output": {"entities": {"gene": [{"text": "interleukin 13", "start": 68, "end": 82}], "disease": [{"text": "atopy", "start": 33, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of KLK12 protein was significantly associated with lymph node metastasis (P = 0. 001), histological type (P < 0. 001) and tumor-node-metastasis stage (P = 0. 005), while no significant correlation was observed between expression of KLK12 protein and sex, age, depth of invasion, tumor size or lymphatic invasion.", "output": {"entities": {"gene": [{"text": "KLK12", "start": 18, "end": 23}], "disease": [{"text": "metastasis", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 contains several functional domains that directly or indirectly interact with a variety of proteins via protein-protein interaction; these include tumor suppressors (BRCA2, p53, Rb and ATM), oncogenes (c-Myc, casein kinase II and E2F), DNA damage repair proteins (RAD50 and RAD51), cell cycle regulators (cyclins and cyclin dependent kinases), transcriptional activators and repressors (RNA polymerase II, RHA, histone deacetylase complex and CtIP), DNA damage-sensing complex and mismatch repair proteins (BRCA1-Associated Surveillance Complex; BASC) and signal transducer and activator of transcription (STAT) among others Formation of foci containing BRCA1 by inherited mutations, or epigenetic mechanisms (promoter methylation) in sporadic cancers leads to a loss of DNA repair ability, disrupts the potential to form complexes with other proteins that are crucial for DNA repair pathways.", "output": {"entities": {"gene": [{"text": "p53", "start": 179, "end": 182}], "disease": [{"text": "sporadic", "start": 741, "end": 749}]}, "relations": {}}, "schema": []}
{"input": "Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.", "output": {"entities": {"gene": [{"text": "C16orf57", "start": 52, "end": 60}], "disease": [{"text": "poikiloderma with neutropenia", "start": 94, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C16orf57", "start": 52, "end": 60}, "tail": {"text": "poikiloderma with neutropenia", "start": 94, "end": 123}}]}}, "schema": []}
{"input": "Here we demonstrate that hypoxia/reoxygenation drives poorly invasive breast cancer cells toward a more aggressive phenotype by up-regulating LOX expression and catalytic activity.", "output": {"entities": {"gene": [{"text": "LOX", "start": 142, "end": 145}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Thus, miRNAs such as miR-21, miR-125b, miR-155, miR-196, and miR-210 that are critical for the immune response or hypoxia are often overexpressed in cancers and leukemias.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 21, "end": 27}], "disease": [{"text": "hypoxia", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "It was found that PACAP6-27 induced pancreatic edema, inflammatory cell infiltration, and elevation of serum amylase [(1464. 33 +/-265. 6)-(1692. 17 +/-312. 18)] IU/L vs (520. 8 +/-163. 27) IU/L of control, P < 0. 05); that PACAP6-27 aggravated vacuolization of pancreatic acinar cells in cerulein-induced pancreatitis with hemorrhage and fatty and parenchymal necrosis; and that the pathological changes of cerulein plus 100 microg/kg PACAP group were similar to those of sodium taurocholate-induced pancreatitis.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 18, "end": 23}], "disease": [{"text": "necrosis", "start": 361, "end": 369}]}, "relations": {}}, "schema": []}
{"input": "Those with the rarer Jackson-Lawler Syndrome (MIM #167210; PC-2) lack oral involvement but have natal teeth and cutaneous cysts.", "output": {"entities": {"gene": [{"text": "MIM", "start": 46, "end": 49}], "disease": [{"text": "natal teeth", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Additionally, most sporadic colorectal tumors do not necessarily require following the widely accepted genetic model, because the three key genetic mutations, APC, K-ras, and p53, rarely occur simultaneously.", "output": {"entities": {"gene": [{"text": "p53", "start": 175, "end": 178}], "disease": [{"text": "sporadic", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, mice homozygous for a Lefty1 null allele manifest LR malformations and misexpress Lefty2.", "output": {"entities": {"gene": [{"text": "Lefty1", "start": 35, "end": 41}], "disease": [{"text": "malformations", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "He was then given heparin and antithrombin III, and his DIC symptoms improved soon thereafter.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 30, "end": 46}], "disease": [{"text": "DIC", "start": 56, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "antithrombin III", "start": 30, "end": 46}, "tail": {"text": "DIC", "start": 56, "end": 59}}]}}, "schema": []}
{"input": "In this study, the growth inhibitory effect of three CLA isomers (c9, t11-CLA, t9, t11-CLA and t10, c12-CLA) was investigated on MCF-7 breast cancer cells, as well as their effect on LXR target genes.", "output": {"entities": {"gene": [{"text": "t11", "start": 70, "end": 73}], "disease": [{"text": "breast cancer", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We analyzed for PIK3CA and KRAS mutations and LINE-1 methylation by Pyrosequencing, microsatellite instability (MSI), and DNA methylation (epigenetic changes) in eight CpG island methylator phenotype (CIMP)-specific promoters [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1] by MethyLight (real-time PCR).", "output": {"entities": {"gene": [{"text": "SOCS1", "start": 290, "end": 295}], "disease": [{"text": "microsatellite instability", "start": 84, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Long-term antidepressant treatment restores clonidine' s effect on growth hormone secretion in a genetic animal model of depression.", "output": {"entities": {"gene": [{"text": "growth hormone", "start": 67, "end": 81}], "disease": [{"text": "depression", "start": 121, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "growth hormone", "start": 67, "end": 81}, "tail": {"text": "depression", "start": 121, "end": 131}}]}}, "schema": []}
{"input": "Cables-/-mice (n = 25) and the Cables +/+ littermates (n = 25) were treated with subcutaneous DMH injections over 20 weeks to initiate tumorigenesis.", "output": {"entities": {"gene": [{"text": "DMH", "start": 94, "end": 97}], "disease": [{"text": "tumorigenesis", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1).", "output": {"entities": {"gene": [{"text": "PROKR2", "start": 154, "end": 160}], "disease": [{"text": "KS", "start": 137, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PROKR2", "start": 154, "end": 160}, "tail": {"text": "KS", "start": 137, "end": 139}}]}}, "schema": []}
{"input": "BRCA1 contains several functional domains that directly or indirectly interact with a variety of proteins via protein-protein interaction; these include tumor suppressors (BRCA2, p53, Rb and ATM), oncogenes (c-Myc, casein kinase II and E2F), DNA damage repair proteins (RAD50 and RAD51), cell cycle regulators (cyclins and cyclin dependent kinases), transcriptional activators and repressors (RNA polymerase II, RHA, histone deacetylase complex and CtIP), DNA damage-sensing complex and mismatch repair proteins (BRCA1-Associated Surveillance Complex; BASC) and signal transducer and activator of transcription (STAT) among others Formation of foci containing BRCA1 by inherited mutations, or epigenetic mechanisms (promoter methylation) in sporadic cancers leads to a loss of DNA repair ability, disrupts the potential to form complexes with other proteins that are crucial for DNA repair pathways.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 172, "end": 177}], "disease": [{"text": "sporadic", "start": 741, "end": 749}]}, "relations": {}}, "schema": []}
{"input": "Ewing' s sarcoma (ES) is a primary bone tumor characterized by a chromosomic translocation between the EWS gene and a member of the ETS gene family, mainly FLI1, which leads to an aberrant transcription factor EWS-FLI1 that promotes tumorigenicity.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 103, "end": 111}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "EZH2 and HDAC4 activation are associated with particular chromosome abnormalities: EZH2 activation with aberrations in genes from the TGF and phosphatidylinositol pathways and HDAC4 activation with aberrations in inflammatory and chemokine related genes.", "output": {"entities": {"gene": [{"text": "HDAC4", "start": 9, "end": 14}], "disease": [{"text": "chromosome abnormalities", "start": 57, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e. g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).", "output": {"entities": {"gene": [{"text": "GNAS", "start": 85, "end": 89}], "disease": [{"text": "HO", "start": 195, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNAS", "start": 85, "end": 89}, "tail": {"text": "HO", "start": 195, "end": 197}}]}}, "schema": []}
{"input": "Collectively, these results indicate that FGF1 is a direct downstream target of WNT7A/& #946;-catenin signaling and this pathway has potential as a therapeutic target in ovarian cancer.", "output": {"entities": {"gene": [{"text": "WNT7A", "start": 80, "end": 85}], "disease": [{"text": "ovarian cancer", "start": 170, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WNT7A", "start": 80, "end": 85}, "tail": {"text": "ovarian cancer", "start": 170, "end": 184}}]}}, "schema": []}
{"input": "In GABRA1, we found evidence of association with several of the drinking behavior phenotypes, including COGA alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 3, "end": 9}], "disease": [{"text": "drinking behavior", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "GSH and catalase activity are involved in mechanisms responsible for eliminating oxygen free radicals during the establishment of status epilepticus in the hippocampus.", "output": {"entities": {"gene": [{"text": "catalase", "start": 8, "end": 16}], "disease": [{"text": "status epilepticus", "start": 130, "end": 148}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 8, "end": 16}, "tail": {"text": "status epilepticus", "start": 130, "end": 148}}]}}, "schema": []}
{"input": "Here, we review the emerging salient concepts highlighting the pathways of neurodegeneration and the role of LAC in modulating the redox-dependent mechanisms responsible for the upregulation of vitagenes in brain that leads to the enhancement of stress tolerance in brain.", "output": {"entities": {"gene": [{"text": "LAC", "start": 109, "end": 112}], "disease": [{"text": "neurodegeneration", "start": 75, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These results identify a TEF family member as a major regulator of MSLN overexpression, a fundamental characteristic of pancreatic and other cancers, perhaps due to an upstream and highly frequent aberrant cellular activity.", "output": {"entities": {"gene": [{"text": "TEF", "start": 25, "end": 28}], "disease": [{"text": "cancers", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Retinal neurodegeneration was assessed by measuring glial fibrillar acidic protein (GFAP) and the apoptotic rate.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 84, "end": 88}], "disease": [{"text": "neurodegeneration", "start": 8, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "These results show that low levels of CDX2 accelerate colon tumorigenesis by reducing p27Kip1 levels.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 38, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, fluorescence in situ hybridization demonstrated that the translocation fused the PLAG1-RAD51L1 genes.", "output": {"entities": {"gene": [{"text": "RAD51L1", "start": 100, "end": 107}], "disease": [{"text": "translocation", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "After SPA for 1 or 6 days, neurogenic inflammation was induced by intravenous injection of capsaicin (90microg/kg) or substance P (SP; 3microg/kg).", "output": {"entities": {"gene": [{"text": "substance P", "start": 118, "end": 129}], "disease": [{"text": "neurogenic inflammation", "start": 27, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance P", "start": 118, "end": 129}, "tail": {"text": "neurogenic inflammation", "start": 27, "end": 50}}]}}, "schema": []}
{"input": "This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.", "output": {"entities": {"gene": [{"text": "K6a", "start": 157, "end": 160}], "disease": [{"text": "laryngeal obstruction", "start": 61, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Factor IXAlabama is a variant factor IX molecule responsible for a clinically moderate form of hemophilia B. Twenty-five kilobases (kb) of the variant gene, including seven exons coding for the structural protein, were cloned and characterized.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 30, "end": 39}], "disease": [{"text": "hemophilia B", "start": 95, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 30, "end": 39}, "tail": {"text": "hemophilia B", "start": 95, "end": 107}}]}}, "schema": []}
{"input": "Studies in neurobiology have uncovered a potential implication of CUX1 in cognitive disorders, neurodegeneration and obesity.", "output": {"entities": {"gene": [{"text": "CUX1", "start": 66, "end": 70}], "disease": [{"text": "neurodegeneration", "start": 95, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "At 6-7 years of age, the comparison of various factors was made between 31 LGA and 34 appropriate-for-gestational-age (AGA) children: fibrinogen, antithrombin III, protein C and S, fasting insulin, glucose, homeostasis assessment model of insulin resistance (HOMA-IR) index, adiponectin, leptin, visfatin, IGF-1, IGF-binding protein (IGFBP)-1, IGFBP-3, lipids, and the genetic factors V Leiden G1691A mutation, prothrombin 20210A/G polymorphism, and mutation in the enzyme 5, 10-methylenetetrahydrofolate-reductase gene (MTHFR-C677T).", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 146, "end": 162}], "disease": [{"text": "fibrinogen", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that a defect in gp39 is the basis of X-linked HIM.", "output": {"entities": {"gene": [{"text": "gp39", "start": 36, "end": 40}], "disease": [{"text": "HIM", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gp39", "start": 36, "end": 40}, "tail": {"text": "HIM", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "Of 115 primary sporadic ovarian carcinomas, 39 (34%) had low BRCA1 protein and 49 (42%) had low BRCA2 expression.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 96, "end": 101}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In the villi with characteristic hypoxic/ischemic changes (HIC), including increased syncytial knots, infarction, or hypercapillarization, intense immunostaining for VEGF was detected in the media of blood vessels, and increased staining for KDR was demonstrated in the endothelial cells.", "output": {"entities": {"gene": [{"text": "HIC", "start": 59, "end": 62}], "disease": [{"text": "hypoxic", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 100, "end": 106}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 151, "end": 181}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 100, "end": 106}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 151, "end": 181}}]}}, "schema": []}
{"input": "The B-2 receptor antagonist HOE 140 (0. 1 mg/kg) prevented bradykinin-but not prostaglandin E2-induced thermal hyperaesthesia.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 59, "end": 69}], "disease": [{"text": "hyperaesthesia", "start": 111, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 59, "end": 69}, "tail": {"text": "hyperaesthesia", "start": 111, "end": 125}}]}}, "schema": []}
{"input": "These results suggest a possible functional role of CRP40 in the pathogenesis of schizophrenia.", "output": {"entities": {"gene": [{"text": "CRP40", "start": 52, "end": 57}], "disease": [{"text": "schizophrenia", "start": 81, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRP40", "start": 52, "end": 57}, "tail": {"text": "schizophrenia", "start": 81, "end": 94}}]}}, "schema": []}
{"input": "At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine & #946;-hydroxylase, much more expressed in tumor tissue.", "output": {"entities": {"gene": [{"text": "COMT", "start": 46, "end": 50}], "disease": [{"text": "PHEO", "start": 78, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COMT", "start": 46, "end": 50}, "tail": {"text": "PHEO", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "This survey aims to provide an updated account of why IL-6 inhibitors are becoming a vital class of drugs that are potentially useful for inducing immune tolerance as a treatment for autoimmune diseases and transplant rejection.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 54, "end": 58}], "disease": [{"text": "transplant rejection", "start": 207, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "In vitro, after the release of U87 cell lines from serum starvation, the expression of SYF2 was upregulated, as well as PCNA and cyclin D1.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 129, "end": 138}], "disease": [{"text": "starvation", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "These have mainly centered on possible deficiencies in monoamines, neurotrophins, the neuroendocrine system, c-AMP, cation channels as well as neuroimmune interactions and epigenetics, however the precise mechanism or mechanisms related to depression have yet to be elucidated.", "output": {"entities": {"gene": [{"text": "AMP", "start": 111, "end": 114}], "disease": [{"text": "depression", "start": 240, "end": 250}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 111, "end": 114}, "tail": {"text": "depression", "start": 240, "end": 250}}]}}, "schema": []}
{"input": "These studies identify a key role for Cck in the development and treatment of mania, and describe some of the molecular mechanisms by which lithium may act as an effective antimanic agent.", "output": {"entities": {"gene": [{"text": "Cck", "start": 38, "end": 41}], "disease": [{"text": "mania", "start": 78, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cck", "start": 38, "end": 41}, "tail": {"text": "mania", "start": 78, "end": 83}}]}}, "schema": []}
{"input": "Expression of cyclooxygenase-2 (COX2), an inflammatory mediator, and accumulation of the 42-amino acid form of beta-amyloid (Abeta42), a cause of neuronal dysfunction, were measured in autopsy brain tissues of cognitively and neurologically intact lifelong residents of cities having low (n: 9) or high (n: 10) levels of air pollution.", "output": {"entities": {"gene": [{"text": "COX2", "start": 32, "end": 36}], "disease": [{"text": "amyloid", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.", "output": {"entities": {"gene": [{"text": "SLC5A2", "start": 45, "end": 51}], "disease": [{"text": "renal glucosuria", "start": 87, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC5A2", "start": 45, "end": 51}, "tail": {"text": "renal glucosuria", "start": 87, "end": 103}}]}}, "schema": []}
{"input": "Somatostatin is a mediator of immune functions and has been used as an antineoplastic agent in animal models and human neoplasias.", "output": {"entities": {"gene": [{"text": "Somatostatin", "start": 0, "end": 12}], "disease": [{"text": "neoplasias", "start": 119, "end": 129}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Somatostatin", "start": 0, "end": 12}, "tail": {"text": "neoplasias", "start": 119, "end": 129}}]}}, "schema": []}
{"input": "In contrast, knockdown of VILIP-1 inhibits the development of bone cancer pain via downregulation of P2X3 receptors and repression of DRG excitability in MRMT-1 rats.", "output": {"entities": {"gene": [{"text": "DRG", "start": 134, "end": 137}], "disease": [{"text": "cancer pain", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported evidence that variation at GABA (A) receptor genes is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features (Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3.", "output": {"entities": {"gene": [{"text": "GABRA4", "start": 291, "end": 297}], "disease": [{"text": "schizophrenia", "start": 138, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA4", "start": 291, "end": 297}, "tail": {"text": "schizophrenia", "start": 138, "end": 151}}]}}, "schema": []}
{"input": "In this study, we examined mismatch repair (MMR) protein expression (MLH1, MSH2, MSH6, and PMS2) in 60 endocervical adenocarcinomas, including variants (minimal deviation adenocarcinoma, mesonephric adenocarcinoma, adenosquamous carcinoma, clear cell carcinoma) and a series of well-characterized lower-uterine segment carcinomas of known endocervical or endometrial origin (n = 41).", "output": {"entities": {"gene": [{"text": "MSH6", "start": 81, "end": 85}], "disease": [{"text": "clear cell carcinoma", "start": 240, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Four polymorphisms aiming at tagging the CTSL2 locus were genotyped in 421 T1D families, and subsequently in 861 rheumatoid arthritis patients, 530 juvenile idiopathic arthritis patients, and 559 controls of Norwegian origin.", "output": {"entities": {"gene": [{"text": "CTSL2", "start": 41, "end": 46}], "disease": [{"text": "juvenile idiopathic arthritis", "start": 148, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Two genes (Ercc1 and Mcm5) showed a highly significant correlation with AUD-induced decreases in the volume of the left parietal supramarginal gyrus and neuropsychological measures.", "output": {"entities": {"gene": [{"text": "Ercc1", "start": 11, "end": 16}], "disease": [{"text": "AUD", "start": 72, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ercc1", "start": 11, "end": 16}, "tail": {"text": "AUD", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "Women with an APOE-epsilon4 who took ERT did not have an increased risk of AD, but in women with a history of stroke ERT was a deleterious effect modifier.", "output": {"entities": {"gene": [{"text": "ERT", "start": 37, "end": 40}], "disease": [{"text": "stroke", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The data from the case control suggest that polymorphisms of the promoter region of the CCKAR gene do not play a major role in the pathogenesis of alcohol withdrawal symptoms or alcoholic liver injury.", "output": {"entities": {"gene": [{"text": "CCKAR gene", "start": 88, "end": 98}], "disease": [{"text": "withdrawal symptoms", "start": 155, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In addition, Cox6a1-null mice showed significantly reduced COX activity and neurogenic muscular atrophy leading to a difficulty in walking.", "output": {"entities": {"gene": [{"text": "COX", "start": 59, "end": 62}], "disease": [{"text": "difficulty in walking", "start": 117, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "MAGMAS, also referred to as PAM16 (presequence translocase-associated motor 16), is a mitochondria-associated protein involved in preprotein translocation into the matrix.", "output": {"entities": {"gene": [{"text": "presequence translocase-associated motor 16", "start": 35, "end": 78}], "disease": [{"text": "translocation", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Bace1 (-/-) mice display significantly lower body weight, lower plasma insulin concentrations, but normal glucose tolerance and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "Bace1", "start": 0, "end": 5}], "disease": [{"text": "body weight", "start": 45, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Congenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration.", "output": {"entities": {"gene": [{"text": "MIM", "start": 113, "end": 116}], "disease": [{"text": "polydipsia", "start": 177, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The majority of the mutations were truncating, confirming that the absence of full-length ATM protein is the most common molecular basis of AT.", "output": {"entities": {"gene": [{"text": "ATM", "start": 90, "end": 93}], "disease": [{"text": "AT", "start": 90, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 90, "end": 93}, "tail": {"text": "AT", "start": 90, "end": 92}}]}}, "schema": []}
{"input": "Herein, the expression of estrogen receptor alpha (ERalpha), estrogen receptor beta (ER beta) and progesterone receptor (PR) was examined in mammary gland carcinomas induced by PhIP in female Sprague-Dawley rats.", "output": {"entities": {"gene": [{"text": "estrogen receptor beta", "start": 61, "end": 83}], "disease": [{"text": "carcinomas", "start": 155, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "estrogen receptor beta", "start": 61, "end": 83}, "tail": {"text": "carcinomas", "start": 155, "end": 165}}]}}, "schema": []}
{"input": "Fifty-eight sporadic colorectal tumors that had been previously evaluated for genomic instability were analyzed for p53 mutations.", "output": {"entities": {"gene": [{"text": "p53", "start": 116, "end": 119}], "disease": [{"text": "sporadic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.", "output": {"entities": {"gene": [{"text": "IRF7", "start": 173, "end": 177}], "disease": [{"text": "adhesion", "start": 264, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "In vivo experimental studies revealed that renal L-FABP gene expression was up-regulated by various stresses that cause tubulointerstitial damage, such as massive proteinuria, hyperglycemia, hypertension, ischemia and toxins, and that urinary excretion of L-FABP was increased.", "output": {"entities": {"gene": [{"text": "L-FABP", "start": 49, "end": 55}], "disease": [{"text": "proteinuria", "start": 163, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "As CF is characterized by mucus inspissation, airway infection, and severe inflammation, we tested the hypothesis that inflammation and especially two cytokines involved in the Th1/Th2 inflammatory response, interleukin 4 (IL-4) and TNFalpha, could inhibit gene transfer efficiency using a model of human CF tracheal gland cells (CF-KM4) and Lipofectamine reagent as a transfection reagent.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 223, "end": 227}], "disease": [{"text": "inflammation", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "NGF", "start": 216, "end": 219}], "disease": [{"text": "MM", "start": 160, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NGF", "start": 216, "end": 219}, "tail": {"text": "MM", "start": 160, "end": 162}}]}}, "schema": []}
{"input": "In this study we attempted to confirm the increased incidence of the C4B null allele in autism and investigated the presence of a C4B null allele in two other childhood disorders, attention-deficit hyperactivity disorder and dyslexia (reading disability).", "output": {"entities": {"gene": [{"text": "C4B", "start": 69, "end": 72}], "disease": [{"text": "dyslexia", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "We used six human uveal melanoma tumor-derived cell lines and normal uveal melanocytes to characterize the SCF/c-Kit system and to assess its specific role in transformation.", "output": {"entities": {"gene": [{"text": "SCF", "start": 107, "end": 110}], "disease": [{"text": "uveal melanoma", "start": 18, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Among behavioral phenotypes previously reported for NK1R mice on a mixed background, an analgesic-like phenotype was maintained on the C57BL/6 background used here, while KO: s and WT: s did not differ in anxiety-and depression-related behaviors.", "output": {"entities": {"gene": [{"text": "NK1R", "start": 52, "end": 56}], "disease": [{"text": "depression", "start": 217, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NK1R", "start": 52, "end": 56}, "tail": {"text": "depression", "start": 217, "end": 227}}]}}, "schema": []}
{"input": "Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 13, "end": 18}], "disease": [{"text": "Pfeiffer syndrome", "start": 55, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 13, "end": 18}, "tail": {"text": "Pfeiffer syndrome", "start": 55, "end": 72}}]}}, "schema": []}
{"input": "In conclusion, our results demonstrate that TMP inhibits the development of inflammation and tissue injury associated with spinal cord contusion in rats which may improve the rats' hindlimb function.", "output": {"entities": {"gene": [{"text": "TMP", "start": 44, "end": 47}], "disease": [{"text": "inflammation", "start": 76, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Present data suggest that an insertion/deletion polymorphism in the promoter region of the NQO2 gene plays an important role in the pathogenesis of alcoholism and alcohol withdrawal symptoms.", "output": {"entities": {"gene": [{"text": "NQO2", "start": 91, "end": 95}], "disease": [{"text": "alcoholism", "start": 148, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NQO2", "start": 91, "end": 95}, "tail": {"text": "alcoholism", "start": 148, "end": 158}}]}}, "schema": []}
{"input": "The 13 most frequent mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not involved in sporadic vestibular schwannoma development.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 47, "end": 51}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "In this study HER3 expression was evaluated by RT-PCR analysis and immunohistochemistry from different tissue specimens of cutaneous tumors like nevi, primary malignant melanomas, basal cell carcinoma, squamous cell carcinoma and malignant melanoma metastases and normal skin samples and graded into weak, moderate and strong expression.", "output": {"entities": {"gene": [{"text": "HER3", "start": 14, "end": 18}], "disease": [{"text": "nevi", "start": 145, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Mutational screening of TITF1 is important in cases of sporadic or dominant juvenile-onset ataxia, with mild chorea where no other cause is found, particularly if pituitary abnormalities are seen on imaging.", "output": {"entities": {"gene": [{"text": "TITF1", "start": 24, "end": 29}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Treatment with anti-NGF significantly reduced allergic airway resistance and inflammation, up-regulated IFNγ, IL-10, TGFβ, T-bet, and Foxp3 expression, increased Th1 and Tregs, but down-regulated IL-4, TNFα, IL-17A, RORγT and GATA-3 expression and reduced Th2 and Th17 cells, accompanied by increased serum IgG2a.", "output": {"entities": {"gene": [{"text": "Th1", "start": 162, "end": 165}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.", "output": {"entities": {"gene": [{"text": "RGR", "start": 13, "end": 16}], "disease": [{"text": "retinitis pigmentosa", "start": 79, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RGR", "start": 13, "end": 16}, "tail": {"text": "retinitis pigmentosa", "start": 79, "end": 99}}]}}, "schema": []}
{"input": "So far, the function of KLLN has never been studied in tumorigenesis.", "output": {"entities": {"gene": [{"text": "KLLN", "start": 24, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "One hundred ten cervical specimens, which were collected from patients with various kinds of uterine cervix disease that was subsequently diagnosed as chronic cervicitis and with examination results negative for intraepithelial lesion or malignancy (NILM, n = 23), mild dysplasia (cervical intraepithelial neoplasia type 1 [CIN1], n = 37), moderate dysplasia (CIN2, n = 12), severe dysplasia (CIN3, n = 10), and squamous cell carcinoma (SCA, n = 28) confirmed by histologic diagnosis, were analyzed for the proportion of abnormal cells with TERC gain using a commercially available 2-color fluorescence in situ hybridization (FISH) probe.", "output": {"entities": {"gene": [{"text": "FISH", "start": 626, "end": 630}], "disease": [{"text": "squamous cell carcinoma", "start": 412, "end": 435}]}, "relations": {}}, "schema": []}
{"input": "Coadministration of IGF-I with IGFBP-1 neutralized the stimulating effects of IGF-I on body length and weight as well as on the femoral muscles and testes.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 20, "end": 25}], "disease": [{"text": "weight", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "After 8 weeks of therapy, final volume and weight of DU-145 tumors in mice treated with MZ-5-156 were significantly (P < 0. 01) decreased compared with controls, and serum IGF-I showed a significant reduction.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 172, "end": 177}], "disease": [{"text": "weight", "start": 43, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In a previous report, we proposed that analysis of 53BP1 expression by immunofluorescence could be a useful tool in estimating the level of genomic instability (GIN), as well as the malignant potential, of thyroid tumours.", "output": {"entities": {"gene": [{"text": "53BP1", "start": 51, "end": 56}], "disease": [{"text": "genomic instability", "start": 140, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The accumulation of damaged or postsynthetically modified proteins and dysregulation of inflammatory responses and angiogenesis in the retina/RPE are thought be etiologically related to formation of drusen and choroidal neovascularization (CNV), hallmarks of age-related macular degeneration (AMD).", "output": {"entities": {"gene": [{"text": "RPE", "start": 142, "end": 145}], "disease": [{"text": "choroidal neovascularization", "start": 210, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data suggest that DEPTOR has a tumor suppressive activity against pancreatic cancer cells, and its loss of expression may contribute to pancreatic tumorigenesis.", "output": {"entities": {"gene": [{"text": "DEPTOR", "start": 40, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 313, "end": 334}], "disease": [{"text": "alcoholism", "start": 211, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "von Willebrand factor", "start": 313, "end": 334}, "tail": {"text": "alcoholism", "start": 211, "end": 221}}]}}, "schema": []}
{"input": "The possible hint of linkage in families of JME patients emphasizes the need for further studies to determine whether a recessively inherited gene variant within the GABA (A) alpha5, beta3 and gamma3 subunit gene cluster contributes to the pathogenesis of \" idiopathic \" generalized seizures and associated EEG abnormalities in a proportion of families.", "output": {"entities": {"gene": [{"text": "beta3", "start": 183, "end": 188}], "disease": [{"text": "generalized seizures", "start": 271, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "We determined the in vitro effects of hypoxia on Cyr61 and CTGF expression in colorectal cancer cell lines.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 59, "end": 63}], "disease": [{"text": "hypoxia", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We performed a subtelomere FISH study of 50 unrelated children ascertained by a checklist that evaluates MR or developmental delay, dysmorphism, growth defect, and abnormal pedigree and found 10 bona fide causal rearrangements (detection rate 20%, 95% CI 10-33. 7%).", "output": {"entities": {"gene": [{"text": "FISH", "start": 27, "end": 31}], "disease": [{"text": "developmental delay", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Together with our prior studies on renal neoplasms and normal kidney, these studies suggested that the gene for placental S100 (S100P) is specifically expressed in benign and malignant urothelial cells.", "output": {"entities": {"gene": [{"text": "S100P", "start": 128, "end": 133}], "disease": [{"text": "renal neoplasms", "start": 35, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Further, antioxidant NAC, as well as PARP-1 inhibitor 3AB, not only alleviated the overproduction of ROS caused by DPT, but also reversed the above-mentioned biochemical events, maintained mitochondrial membrane potential and rescued glioma cells death.", "output": {"entities": {"gene": [{"text": "NAC", "start": 21, "end": 24}], "disease": [{"text": "glioma", "start": 234, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "We found that the plasma HGF level in LEC rats rose markedly during the fulminant hepatitis phase, fell during the phase of chronic/cholangiofibrosis, and fluctuated during the hepatoma phase.", "output": {"entities": {"gene": [{"text": "LEC", "start": 38, "end": 41}], "disease": [{"text": "fulminant hepatitis", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "IL-1 alpha", "start": 192, "end": 202}], "disease": [{"text": "MM", "start": 160, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 alpha", "start": 192, "end": 202}, "tail": {"text": "MM", "start": 160, "end": 162}}]}}, "schema": []}
{"input": "In this study we demonstrate that IR markedly enhanced the secretion by mouse and human breast cancer cells of CXCL16, a chemokine that binds to CXCR6 on Th1 and activated CD8 effector T cells, and plays an important role in their recruitment to sites of inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 154, "end": 157}], "disease": [{"text": "inflammation", "start": 255, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "IL-1beta, TNF-alpha, and systemic inflammation induced by casein injection also inhibited expression of adenosine triphosphate-binding cassette transporter A1 (ABCA1), peroxisome proliferator-activated receptor-alpha (PPAR-alpha), and liver X receptor-alpha (LXRalpha).", "output": {"entities": {"gene": [{"text": "liver X receptor-alpha", "start": 235, "end": 257}], "disease": [{"text": "inflammation", "start": 34, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The in vivo relationship of AR and HNE was explored by treating human GCA temporal artery-severe combined immunodeficiency (SCID) mouse chimeras with the AR inhibitors Sorbinil and Zopolrestat.", "output": {"entities": {"gene": [{"text": "HNE", "start": 35, "end": 38}], "disease": [{"text": "severe combined immunodeficiency", "start": 90, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2 heterozygous mice (B6; 129S2-Bcl-2 & lt; tm1Sjk & gt;/J) were tested in models of depression, mania and anxiety.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 0, "end": 5}], "disease": [{"text": "depression", "start": 88, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 0, "end": 5}, "tail": {"text": "depression", "start": 88, "end": 98}}]}}, "schema": []}
{"input": "This variant strongly associates with insulin resistance and, in subjects with the Trp64Arg ADRB3 variant, an increased BMI, suggesting an interaction between these two common gene variants.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 92, "end": 97}], "disease": [{"text": "insulin resistance", "start": 38, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "ANXA2 was rarely detected in either normal or chronic hepatitis liver tissues, whereas it was overexpressed at both the transcriptional and translational levels in tumorous and non-tumorous regions of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 201, "end": 204}], "disease": [{"text": "chronic hepatitis", "start": 46, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "These results are concomitant with reduced translocation of NF-κB into the nucleus and increased expression of the tissue inhibitor of MMP1 (TIMP1) and CII in chondrocytes.", "output": {"entities": {"gene": [{"text": "TIMP1", "start": 141, "end": 146}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "EMSY links the BRCA2 pathway to sporadic breast/ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 15, "end": 20}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We examined the association of the ICAM-1 K469E gene variant and plasma sICAM-1 with coronary artery calcification (CAC) in 632 asymptomatic subjects, recruited on the basis of a family history of premature cardiovascular disease.", "output": {"entities": {"gene": [{"text": "CAC", "start": 116, "end": 119}], "disease": [{"text": "coronary artery calcification", "start": 85, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Overall, our findings indicate that IL7R mutational activation is involved in human T-cell leukemogenesis, paving the way for therapeutic targeting of IL-7R-mediated signaling in T-ALL.", "output": {"entities": {"gene": [{"text": "IL7R", "start": 36, "end": 40}], "disease": [{"text": "T-ALL", "start": 179, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL7R", "start": 36, "end": 40}, "tail": {"text": "T-ALL", "start": 179, "end": 184}}]}}, "schema": []}
{"input": "Microglial C5aR (CD88) expression correlates with amyloid-beta deposition in murine models of Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "CD88", "start": 17, "end": 21}], "disease": [{"text": "amyloid", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The relationship between local treatment and tumour regression was supported by replacement of tumour cells by inflammatory cells in regressing lesions and marked induction of T and natural killer cell derived cytokines (IL-2, IL-4, IFNg...) in post-therapeutic lesions analysed 28 days after the start of Vero-IL-2 administration.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 227, "end": 231}], "disease": [{"text": "regression", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemically, the cyst-lining epithelia were almost negative for mucin core protein (MUC) 1, MUC2, and MUC6, and showed only focal staining for MUC5AC.", "output": {"entities": {"gene": [{"text": "MUC6", "start": 112, "end": 116}], "disease": [{"text": "cyst", "start": 27, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The findings suggest that breast cancer due to BRCA1, has a different natural history to BRCA2 or apparently sporadic disease, which may have implications for screening and management.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 89, "end": 94}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Aggressive BT474 and SKBR3 cancer cells where ErbB2 is overexpressed, MCF10A immortalised ductal cells and non-invasive MCF-7 cancer cells which express low levels of ErbB2, both in their naive state and when forced to mimic aggressive behaviour, were used.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 46, "end": 51}], "disease": [{"text": "aggressive behaviour", "start": 225, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Given its survival-promoting effects on cultured neurons, exogenous FGF2 was tested in several animal models of stroke and excitotoxic damage, in which it consistently proved protective against neuronal loss.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 68, "end": 72}], "disease": [{"text": "stroke", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We found that the PGC-1alpha and/or PGC-1beta expression improved mitochondrial respiration in cells harboring a complex III or IV deficiency as well as in transmitochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stroke A3243G tRNA ((Leu) UUR) gene mutation.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 18, "end": 28}], "disease": [{"text": "lactic acidosis", "start": 225, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "PGL-1", "start": 41, "end": 46}], "disease": [{"text": "paragangliomas", "start": 82, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PGL-1", "start": 41, "end": 46}, "tail": {"text": "paragangliomas", "start": 82, "end": 96}}]}}, "schema": []}
{"input": "Perhaps counterintuitively—considering Knudson' s two-hit hypothesis—a large shared deletion was followed by different truncating DEPDC5 mutations in four clonally related leiomyomas.", "output": {"entities": {"gene": [{"text": "DEPDC5", "start": 130, "end": 136}], "disease": [{"text": "hit", "start": 54, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Thus, NEFL mRNA is ectopically expressed in breast malignancies and could be a potential prognostic factor for early-stage breast cancer patients.", "output": {"entities": {"gene": [{"text": "NEFL", "start": 6, "end": 10}], "disease": [{"text": "early-stage breast cancer", "start": 111, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The increased number of CD5 + B-cells in some human autoimmune diseases, the frequent commitment of CD5 + B-cells to the production of natural autoantibodies, and the apparent involvement of these cells in the pathogenesis of the autoimmune hemolytic anemia (AIHA) in certain mouse models suggests a causal relationship between the CD5 + chronic lymphocytic leukemia (CLL) B-cell and the AIHA which frequently develops in this malignant disorder.", "output": {"entities": {"gene": [{"text": "CD5", "start": 24, "end": 27}], "disease": [{"text": "autoimmune diseases", "start": 52, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Attention-deficit/hyperactivity disorder, ADHD [MIM 126452], is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness.", "output": {"entities": {"gene": [{"text": "MIM", "start": 48, "end": 51}], "disease": [{"text": "childhood onset", "start": 119, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Our findings identify PROC on 2q14 as a novel candidate for childhood asthma and replicate the genetic association for 17q21 locus.", "output": {"entities": {"gene": [{"text": "PROC", "start": 22, "end": 26}], "disease": [{"text": "childhood asthma", "start": 60, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The deficiency of the DNA mismatch repair (MMR) system is involved in tumorigenesis of either familial or sporadic colorectal cancers showing microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MMR", "start": 43, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In this study, we compared the usefulness of urinary vanin-1 with other newly developed biomarkers [urinary monocyte chemoattractant protein-1 (MCP-1), kidney injury molecule-1 (Kim-1) and N-acetyl-beta-D-glucosaminidase (NAG)] for the detection of renal complications in rats with experimental colitis.", "output": {"entities": {"gene": [{"text": "NAG", "start": 222, "end": 225}], "disease": [{"text": "colitis", "start": 295, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "Beta-2-microglobulin is an androgen-regulated secreted protein elevated in serum of patients with advanced prostate cancer.", "output": {"entities": {"gene": [{"text": "Beta-2-microglobulin", "start": 0, "end": 20}], "disease": [{"text": "prostate cancer", "start": 107, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Beta-2-microglobulin", "start": 0, "end": 20}, "tail": {"text": "prostate cancer", "start": 107, "end": 122}}]}}, "schema": []}
{"input": "Methylation of the p16 promoter was detected in HCC (72. 7%, 16/22) and also in cirrhosis (29. 4%, 5/17) and chronic hepatitis (23. 5%, 4/17), all of which were positive for hepatitis B or C virus infections.", "output": {"entities": {"gene": [{"text": "HCC", "start": 48, "end": 51}], "disease": [{"text": "chronic hepatitis", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome.", "output": {"entities": {"gene": [{"text": "LRPPRC", "start": 112, "end": 118}], "disease": [{"text": "abnormalities", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Culture of U-CH1 cells in either hypoxia or in the presence of recombinant CCN2 peptide promoted progenitor cell-like characteristics specific to the notochordal tissue of origin.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 75, "end": 79}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In summary, we have, for the first time, demonstrated that PI3K/Akt pathway regulates the CSE expression via Sp1, which is particularly important to understand the effect of PI3K/Akt and CSE on the tumorigenesis.", "output": {"entities": {"gene": [{"text": "CSE", "start": 90, "end": 93}], "disease": [{"text": "tumorigenesis", "start": 198, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Here we have generated K562 cells (derived from CML in blast crisis) constitutively expressing a dominant negative form of NUMB (dnNUMB).", "output": {"entities": {"gene": [{"text": "NUMB", "start": 123, "end": 127}], "disease": [{"text": "blast crisis", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "These data do not support the correlation between expanded RED products (RED fragments & gt; 120) and expanded alleles at ERDA1 in trans-generational pairs with BPAD.", "output": {"entities": {"gene": [{"text": "ERDA1", "start": 122, "end": 127}], "disease": [{"text": "BPAD", "start": 161, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERDA1", "start": 122, "end": 127}, "tail": {"text": "BPAD", "start": 161, "end": 165}}]}}, "schema": []}
{"input": "Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, & #946;-catenin, melan-A, glucose transporter-1, cytokeratin CAM5. 2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma.", "output": {"entities": {"gene": [{"text": "calretinin", "start": 62, "end": 72}], "disease": [{"text": "malignant mesothelioma", "start": 271, "end": 293}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calretinin", "start": 62, "end": 72}, "tail": {"text": "malignant mesothelioma", "start": 271, "end": 293}}]}}, "schema": []}
{"input": "MEN1 tumorigenesis in the pituitary and pancreatic islet requires Cdk4 but not Cdk2.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 79, "end": 83}], "disease": [{"text": "tumorigenesis", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Cyr61 is a secreted, cysteine-rich, heparin-binding protein that mediates diverse functions including extracellular matrix formation, differentiation, cell proliferation, adhesion, migration, survival, as well as angiogenesis and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "CD276 and the alternative checkpoint inhibition PVR/NECTIN2/CD226/TIGIT pathway emerged as relevant to PC checkpoint inhibition target development.", "output": {"entities": {"gene": [{"text": "PVR", "start": 48, "end": 51}], "disease": [{"text": "PC", "start": 103, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PVR", "start": 48, "end": 51}, "tail": {"text": "PC", "start": 103, "end": 105}}]}}, "schema": []}
{"input": "Similar to PAR-1 deficiency, hematopoietic cell TF deficiency was associated with reduced inflammation and reduced steatosis in livers of low-density lipoprotein receptor-deficient mice fed a Western diet.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 11, "end": 16}], "disease": [{"text": "steatosis", "start": 115, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAR-1", "start": 11, "end": 16}, "tail": {"text": "steatosis", "start": 115, "end": 124}}]}}, "schema": []}
{"input": "Dynamic alterations in myoplasmic Ca2 + in malignant hyperthermia and central core disease.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 34, "end": 37}], "disease": [{"text": "malignant hyperthermia", "start": 43, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We describe a 0. 73 Mb duplication of chromosome 22q11. 21 between LCR-B and LCR-D and a missense mutation in a conserved C2H2 zinc finger domain of SALL4 in a cognitively normal patient with multiple skeletal anomalies including radioulnar synostosis, thumb aplasia, butterfly vertebrae, rib abnormalities, and hypoplasia of the humeral and femoral epiphyses.", "output": {"entities": {"gene": [{"text": "SALL4", "start": 149, "end": 154}], "disease": [{"text": "multiple skeletal anomalies", "start": 192, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "IRP1 was distributed between cytosolic and membrane-bound fractions, and in both cells hypoxia increased both the amount and IRE-binding activity of the membrane-associated IRP1 fraction.", "output": {"entities": {"gene": [{"text": "IRP1", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Concomitant with blood pressure increase and cardiac hypertrophy in spontaneously hypertensive rats, there was a constitutive decrease in the ratio of cardiac expression of ATRAP to Ang II type 1 receptor.", "output": {"entities": {"gene": [{"text": "ATRAP", "start": 173, "end": 178}], "disease": [{"text": "cardiac hypertrophy", "start": 45, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous brain-derived neurotrophic factor (BDNF) (+/-) mice display abnormalities in central serotonergic neurotransmission, develop decrements in serotonergic innervation of the forebrain, and exhibit enhanced intermale aggressiveness.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 48, "end": 52}], "disease": [{"text": "aggressiveness", "start": 226, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Diabetic nephropathy, clinically defined by overt albuminuria, hypertension and declining GFR, affects 25-35% of IDDM patients.", "output": {"entities": {"gene": [{"text": "GFR", "start": 90, "end": 93}], "disease": [{"text": "albuminuria", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The spectrum of podoplanin expression in encapsulating peritoneal sclerosis.", "output": {"entities": {"gene": [{"text": "podoplanin", "start": 16, "end": 26}], "disease": [{"text": "peritoneal sclerosis", "start": 55, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Emerging evidence implicates a novel family of Jumonji C catalytic domain proteins as mediators of hypoxic gene expression.", "output": {"entities": {"gene": [{"text": "Jumonji", "start": 47, "end": 54}], "disease": [{"text": "hypoxic", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 34, "end": 39}], "disease": [{"text": "HSAN-IV", "start": 67, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTRK1", "start": 34, "end": 39}, "tail": {"text": "HSAN-IV", "start": 67, "end": 74}}]}}, "schema": []}
{"input": "Additionally, unmethylation of the CTCF-binding site could lead to inactivation of the paternal IGF2 gene, and be linked to decreased embryo quality and birth weight, often associated with ART.", "output": {"entities": {"gene": [{"text": "CTCF", "start": 35, "end": 39}], "disease": [{"text": "birth weight", "start": 153, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the FSHR haplotype does not associate with different serum FSH levels but it is differently distributed in proven fathers and infertile men.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 21, "end": 25}], "disease": [{"text": "infertile", "start": 143, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Adenovirus-mediated expression of a dominant negative Ku70 fragment radiosensitizes human tumor cells under aerobic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "Ku70", "start": 54, "end": 58}], "disease": [{"text": "hypoxic", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In this review, we summarize the role of LTCCs for human diseases caused by genetic Ca2 + channel defects (channelopathies).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 84, "end": 87}], "disease": [{"text": "channelopathies", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We have assessed TNF (-/-), TNF-R1 (-/-) and TNF-R2 (-/-) mice against C57BL/6 wild-type (WT) mice from 12 weeks of age in order to evaluate measures of spatial memory and learning in the Barnes maze (BM) and Y-maze, as well as other behaviours such as exploration, social interaction, anxiety and depression-like behaviour in a battery of tests.", "output": {"entities": {"gene": [{"text": "TNF-R1", "start": 28, "end": 34}], "disease": [{"text": "depression", "start": 298, "end": 308}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF-R1", "start": 28, "end": 34}, "tail": {"text": "depression", "start": 298, "end": 308}}]}}, "schema": []}
{"input": "Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism.", "output": {"entities": {"gene": [{"text": "TBX3", "start": 167, "end": 171}], "disease": [{"text": "ulnar-mammary syndrome", "start": 27, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX3", "start": 167, "end": 171}, "tail": {"text": "ulnar-mammary syndrome", "start": 27, "end": 49}}]}}, "schema": []}
{"input": "TLR-4 Asp299Gly and Thr399Ile polymorphisms were investigated in 171 Italian patients with sporadic gastric cancer and in 151 controls.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrated that myeloid differentiation primary response gene 88 (MyD88) lies upstream of BLT2 in LPS-potentiated invasiveness and that this' MyD88-BLT2' cascade mediates activation of NF-κB and the synthesis of IL-6 and IL-8, which are critical for the invasiveness and aggression of breast cancer cells.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 230, "end": 234}], "disease": [{"text": "aggression", "start": 289, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that overexpression of the nm23 H1/NDPKA gene occurs frequently in adeno-carcinomas of the prostate and may be an early event in prostate cancer tumorigenesis.", "output": {"entities": {"gene": [{"text": "NDPKA", "start": 58, "end": 63}], "disease": [{"text": "tumorigenesis", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Comparing the glucose disposals of HEC and AT-HEC, no difference in insulin sensitivity was found.", "output": {"entities": {"gene": [{"text": "HEC", "start": 35, "end": 38}], "disease": [{"text": "insulin sensitivity", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In studies with the mTOR inhibitor rapamycin, we have elucidated the stimulatory role of a mTOR-HIF-1α-VEGF axis in allergic response.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 103, "end": 107}], "disease": [{"text": "allergic response", "start": 116, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We found that VPA can inhibit neuritic plaque formation and improve the learning and memory in the prenatal hypoxic APP/PS1 transgenic mice.", "output": {"entities": {"gene": [{"text": "APP", "start": 116, "end": 119}], "disease": [{"text": "hypoxic", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 22, "end": 27}], "disease": [{"text": "focal dermal hypoplasia", "start": 74, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PORCN", "start": 22, "end": 27}, "tail": {"text": "focal dermal hypoplasia", "start": 74, "end": 97}}]}}, "schema": []}
{"input": "In stepwise regression analysis CD34 +/OCN + cells, age, systolic blood pressure and heart rate were significant predictors of aPWV (Model R = 0. 62, p < 0. 001), independent of cardiovascular risk factors, parathyroid hormone levels and osteoporotic status.", "output": {"entities": {"gene": [{"text": "CD34", "start": 32, "end": 36}], "disease": [{"text": "heart rate", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 76, "end": 82}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COL2A1", "start": 76, "end": 82}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "Altered expression of T cell immunoglobulin-mucin (TIM) molecules in bronchoalveolar lavage CD4 + T cells in sarcoidosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 92, "end": 95}], "disease": [{"text": "sarcoidosis", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that impairment of cell cycle regulated proteolysis of cyclin E may be linked to carcinogenesis by promoting genomic instability.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 74, "end": 82}], "disease": [{"text": "genomic instability", "start": 128, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to examine whether nuclear HMGB1 plays a role in the development of cardiac hypertrophy induced by pressure overload.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 53, "end": 58}], "disease": [{"text": "cardiac hypertrophy", "start": 94, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We therefore hypothesized SH3BP2 and its putative downstream effector nuclear factor of activated T cells c1 isoform (NFATc1) are highly expressed in sporadic nonsyndromic giant cell lesions and associated with somatic SH3BP2 mutations.", "output": {"entities": {"gene": [{"text": "SH3BP2", "start": 26, "end": 32}], "disease": [{"text": "sporadic", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The number of migrating and invading gastric cancer cells in hypoxia was significantly decreased by LOX knockdown.", "output": {"entities": {"gene": [{"text": "LOX", "start": 100, "end": 103}], "disease": [{"text": "hypoxia", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In summary, colon cancer cells may up-regulate Notch-1 as a protective mechanism in response to chemotherapy.", "output": {"entities": {"gene": [{"text": "Notch-1", "start": 47, "end": 54}], "disease": [{"text": "colon cancer", "start": 12, "end": 24}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Notch-1", "start": 47, "end": 54}, "tail": {"text": "colon cancer", "start": 12, "end": 24}}]}}, "schema": []}
{"input": "These results advance our understanding of the role of lncRNA-AK058003 as a regulator of hypoxia signaling, and this newly identified hypoxia/lncRNA-AK058003/SNCG pathway may help in the development of new therapeutics.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 158, "end": 162}], "disease": [{"text": "hypoxia", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The hepatocyte growth factor (HGF)/MET pathway plays a critical role in the development of the nervous system and has been implicated in medulloblastoma pathogenesis.", "output": {"entities": {"gene": [{"text": "MET", "start": 35, "end": 38}], "disease": [{"text": "nervous system", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The neurofibromatosis 2 locus (NF2) is inactivated through mutation and loss of heterozygosity (LOH) in 40-65% of all sporadic meningiomas, while the role of the p53 tumor suppression pathway in meningioma initiation and progression is still unclear.", "output": {"entities": {"gene": [{"text": "p53", "start": 162, "end": 165}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed chromogenic in situ hybridization (CISH) and immunohistochemistry to evaluate for NF2 gene deletion in a group of sporadic meningiomas, schwannomas, and ependymomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 110, "end": 118}], "disease": [{"text": "sporadic", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.", "output": {"entities": {"gene": [{"text": "G6PT1", "start": 73, "end": 78}], "disease": [{"text": "glycogen storage disease type Ib", "start": 19, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "G6PT1", "start": 73, "end": 78}, "tail": {"text": "glycogen storage disease type Ib", "start": 19, "end": 51}}]}}, "schema": []}
{"input": "When formulated with a TLR4L-containing adjuvant (GLA-SE), 73f stimulated a strong and pluripotent Th1 response that inhibited M. leprae-induced inflammation in mice.", "output": {"entities": {"gene": [{"text": "Th1", "start": 99, "end": 102}], "disease": [{"text": "inflammation", "start": 145, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We have determined the protein (by ELISA method) and mRNA expression (using qPCR) of TLR3 and TLR4 in the postmortem brain (dorsolateral prefrontal cortex [DLPFC]) of 22 depressed suicide victims, 11 non-depressed suicide victims, 12 depressed non-suicide subjects and 20 normal control subjects.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 94, "end": 98}], "disease": [{"text": "suicide", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data provide proof-of-concept that miR-21 overexpression within MM-microenviroment plays a crucial role in bone resorption/apposition balance, supporting the design of innovative miR-21 inhibition-based strategies for MM-related BD.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 55, "end": 61}], "disease": [{"text": "bone resorption", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "OncoPrint analysis was used to reveal the alteration of SOX2 and FOXA1 genes in breast invasive carcinoma cases and lung squamous cell carcinoma cases from the Cancer Genome Atlas (TCGA) data portal.", "output": {"entities": {"gene": [{"text": "FOXA1", "start": 65, "end": 70}], "disease": [{"text": "invasive carcinoma", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that GLRA4 is involved in intellectual disability, behavioral problems and craniofacial anomalies as the second gene identified for X-linked syndromic intellectual disability at Xq22. 2.", "output": {"entities": {"gene": [{"text": "GLRA4", "start": 20, "end": 25}], "disease": [{"text": "behavioral problems", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Here we show that KIAA1199, a deafness gene of unknown function, plays a central role in HA binding and depolymerization that is independent of CD44 and HYAL enzymes.", "output": {"entities": {"gene": [{"text": "CD44", "start": 144, "end": 148}], "disease": [{"text": "deafness", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The expression of RUNX3 mRNA and miR-532-5p (microRNA) was assessed in melanoma lines and in primary and metastatic melanoma tumors.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 18, "end": 23}], "disease": [{"text": "metastatic melanoma", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that SLC39A6 has an important role in the prognosis of ESCC and may be a potential therapeutic target.", "output": {"entities": {"gene": [{"text": "SLC39A6", "start": 27, "end": 34}], "disease": [{"text": "ESCC", "start": 77, "end": 81}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SLC39A6", "start": 27, "end": 34}, "tail": {"text": "ESCC", "start": 77, "end": 81}}]}}, "schema": []}
{"input": "Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.", "output": {"entities": {"gene": [{"text": "GNPTG", "start": 136, "end": 141}], "disease": [{"text": "mucolipidosis III gamma", "start": 165, "end": 188}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTG", "start": 136, "end": 141}, "tail": {"text": "mucolipidosis III gamma", "start": 165, "end": 188}}]}}, "schema": []}
{"input": "pRb2/p130 cytoplasmic delocalization can lead to cell cycle deregulation, but considering the emerging involvement of pRb2/p130 in other key cellular processes, it could contribute to gastric tumorigenesis also through other mechanisms.", "output": {"entities": {"gene": [{"text": "p130", "start": 5, "end": 9}], "disease": [{"text": "tumorigenesis", "start": 192, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Although alcohol-related disorders (ARD) have been shown to be accompanied by comorbid depressive and anxiety disorders, and alcohol metabolic enzyme genes, ADH1B and ALDH2 polymorphisms, have been associated with an increased risk of ARD, no studies have been conducted to evaluate the associations between these genetic polymorphisms and anxiety or depression.", "output": {"entities": {"gene": [{"text": "ARD", "start": 36, "end": 39}], "disease": [{"text": "depression", "start": 351, "end": 361}]}, "relations": {}}, "schema": []}
{"input": "The p53 tumor suppressor gene has been implicated in many inherited and sporadic forms of malignancies in humans.", "output": {"entities": {"gene": [{"text": "p53 tumor suppressor gene", "start": 4, "end": 29}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "These results combined indicate that PSA facilitates tumor invasion of glioma in the brain, and that NCAM-NCAM interaction is likely attenuated in the PSA-mediated tumor invasion.", "output": {"entities": {"gene": [{"text": "NCAM", "start": 101, "end": 105}], "disease": [{"text": "glioma", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "To elucidate possible genetic predisposition for inter-individual differences in asparaginase hypersensitivity, we studied single nucleotide polymorphisms (SNPs) in the GRIA1 gene in 146 pediatric patients treated with l-asparaginase.", "output": {"entities": {"gene": [{"text": "GRIA1 gene", "start": 169, "end": 179}], "disease": [{"text": "hypersensitivity", "start": 94, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "To clarify the role of FAF1 in human cancer, a number of tumors from different organs were screened for expression of the protein, and it was only found reduced in gastric carcinoma tissue.", "output": {"entities": {"gene": [{"text": "FAF1", "start": 23, "end": 27}], "disease": [{"text": "cancer", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Ig lambda and heavy chain gene usage in early untreated systemic lupus erythematosus suggests intensive B cell stimulation.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 14, "end": 25}], "disease": [{"text": "systemic lupus erythematosus", "start": 56, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Another emerging research topic is in the designation of genetic markers for specific cirrhosis-related complications, such as spontaneous bacterial peritonitis (NOD2) and hepatic encephalopathy (glutaminase), of potential future relevance in prioritizing patients for preemptive treatment strategies.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 162, "end": 166}], "disease": [{"text": "hepatic encephalopathy", "start": 172, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Using a two-stage case-control design, we searched for pairwise interactions between cigarette smoking and alcohol intake respectively with 9 single nucleotide polymorphisms (SNPs) at ERAP1, PTTG1, CSMD1, GJB2, SERPINB8, ZNF816A and TNIP1/ANXA6 that have been associated with risk for psoriasis in 7, 223 subjects.", "output": {"entities": {"gene": [{"text": "CSMD1", "start": 198, "end": 203}], "disease": [{"text": "alcohol intake", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We propose that expression of abnormal GPIX prevents stable assembly of the GPIb/IX complex, causing BSS in the doubly heterozygous individuals in this family.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 39, "end": 43}], "disease": [{"text": "BSS", "start": 101, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIX", "start": 39, "end": 43}, "tail": {"text": "BSS", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.", "output": {"entities": {"gene": [{"text": "SMARCAL1", "start": 36, "end": 44}], "disease": [{"text": "Schimke immuno-osseous dysplasia", "start": 52, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCAL1", "start": 36, "end": 44}, "tail": {"text": "Schimke immuno-osseous dysplasia", "start": 52, "end": 84}}]}}, "schema": []}
{"input": "In the present review we discuss changes in phosphorylation of the thick filament protein myosin binding protein C (cMyBP-C) reported in failing myocardium, with emphasis on phosphorylation changes observed in familial hypertrophic cardiomyopathy caused by mutations in MYBPC3.", "output": {"entities": {"gene": [{"text": "protein C", "start": 105, "end": 114}], "disease": [{"text": "familial hypertrophic cardiomyopathy", "start": 210, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Numerous predisposing risk factors can be both inherited and acquired, including cardiac disease, vascular abnormalities, infectious diseases, collagen tissue diseases, inborn errors of metabolism, anticardiolipin antibody, lupus anticoagulant, deficiencies of protein C, protein S, antithrombin, or plasminogen, and prothrombotic mutations.", "output": {"entities": {"gene": [{"text": "protein S", "start": 272, "end": 281}], "disease": [{"text": "inborn errors of metabolism", "start": 169, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In capsaicin-induced synovitis, the increased endothelial cell proliferation index was partially blocked by administration of NK₁ or CGRP antagonists individually and was reduced to the level of saline controls by coadministration of both receptor antagonists.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 133, "end": 137}], "disease": [{"text": "synovitis", "start": 21, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Three of eight traits (HDL-C (rhoE =-0. 32), ln triglycerides (rhoE = 0. 33), and fibrinogen (rhoE = 0. 20)) displayed significant environmental correlations with diabetes status.", "output": {"entities": {"gene": [{"text": "rhoE", "start": 30, "end": 34}], "disease": [{"text": "fibrinogen", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Among all pooled never smokers (588 cases and 816 controls), TNF rs1799964 was inversely associated with smoking-related cancer (CC vs. CT + TT aOR: 0. 36, 95% CI: 0. 17-0. 77).", "output": {"entities": {"gene": [{"text": "TNF", "start": 61, "end": 64}], "disease": [{"text": "smoking", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The Aipl1-/-mouse has no functional Aipl1 and has a very rapid retinal degeneration.", "output": {"entities": {"gene": [{"text": "Aipl1", "start": 4, "end": 9}], "disease": [{"text": "retinal degeneration", "start": 63, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "An increase in the protein level of the 3 kinases was found, with respect to normal human thyrocytes (HTU5), in the human cell lines derived from follicular (FTC-133), papillary (B-CPAP) and anaplastic (8305C) thyroid carcinomas, but not in cells derived from a follicular adenoma (HTU42).", "output": {"entities": {"gene": [{"text": "CPAP", "start": 181, "end": 185}], "disease": [{"text": "carcinomas", "start": 218, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "The discovery of a very common silent polymorphism at codon 130 of GLUT 4 allowed examination of the association of this locus with Type 2 diabetes using allele-specific oligonucleotide hybridisation in a subset of the Welsh subjects. (ABSTRACT TRUNCATED AT 250 WORDS)", "output": {"entities": {"gene": [{"text": "GLUT 4", "start": 67, "end": 73}], "disease": [{"text": "Type 2 diabetes", "start": 132, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT 4", "start": 67, "end": 73}, "tail": {"text": "Type 2 diabetes", "start": 132, "end": 147}}]}}, "schema": []}
{"input": "Pharmacological inhibition of Pin1 also preserved mitochondrial integrity, nitric oxide availability and endothelial expression of adhesion molecules.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 30, "end": 34}], "disease": [{"text": "adhesion", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "A constitutively active dioxin/aryl hydrocarbon receptor induces stomach tumors.", "output": {"entities": {"gene": [{"text": "aryl hydrocarbon receptor", "start": 31, "end": 56}], "disease": [{"text": "stomach tumors", "start": 65, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "aryl hydrocarbon receptor", "start": 31, "end": 56}, "tail": {"text": "stomach tumors", "start": 65, "end": 79}}]}}, "schema": []}
{"input": "OVOL2 was also expressed in pilomatricoma, with only partial expression of OVOL1.", "output": {"entities": {"gene": [{"text": "OVOL1", "start": 75, "end": 80}], "disease": [{"text": "pilomatricoma", "start": 28, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OVOL1", "start": 75, "end": 80}, "tail": {"text": "pilomatricoma", "start": 28, "end": 41}}]}}, "schema": []}
{"input": "To better assess the implication of the EDAR gene in HED, we screened for mutations in 37 unrelated HED families or sporadic cases with no detected mutations in the ED1 gene.", "output": {"entities": {"gene": [{"text": "EDAR gene", "start": 40, "end": 49}], "disease": [{"text": "sporadic", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In addition, the relative increase in smoking risk in NAT2 slo acetylators increases with smoking intensity.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 54, "end": 58}], "disease": [{"text": "smoking", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Pathogenesis associated with a restrictive cardiomyopathy mutant in cardiac troponin T is due to reduced protein stability and greatly increased myofilament Ca2 + sensitivity.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 157, "end": 160}], "disease": [{"text": "restrictive cardiomyopathy", "start": 31, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We then assessed the predictivity of serological Fabp3 for SKM necrosis in short duration toxicology studies.", "output": {"entities": {"gene": [{"text": "Fabp3", "start": 49, "end": 54}], "disease": [{"text": "necrosis", "start": 63, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fabp3", "start": 49, "end": 54}, "tail": {"text": "necrosis", "start": 63, "end": 71}}]}}, "schema": []}
{"input": "Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy.", "output": {"entities": {"gene": [{"text": "FAF", "start": 36, "end": 39}], "disease": [{"text": "familial amyloid polyneuropathy", "start": 75, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In nephrogenic diabetes insipidus, the kidney is unable to concentrate urine despite normal or elevated concentrations of the antidiuretic hormone arginine vasopressin (AVP).", "output": {"entities": {"gene": [{"text": "AVP", "start": 169, "end": 172}], "disease": [{"text": "unable to concentrate", "start": 49, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The cell death-inducing DFFA (DNA fragmentation factor-alpha)-like effector A (CIDEA) gene is implicated as an important regulator of body weight in mice and humans and is therefore a candidate gene for human obesity.", "output": {"entities": {"gene": [{"text": "DFFA", "start": 24, "end": 28}], "disease": [{"text": "body weight", "start": 134, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls).", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 33, "end": 41}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "However, little is known about the role of HIF-1 in mood disorder.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 43, "end": 48}], "disease": [{"text": "mood disorder", "start": 52, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1", "start": 43, "end": 48}, "tail": {"text": "mood disorder", "start": 52, "end": 65}}]}}, "schema": []}
{"input": "], or, alternatively, clinically confirmed AID, systemic-onset JIA (SoJIA) and periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome with unknown genetic background.", "output": {"entities": {"gene": [{"text": "AID", "start": 43, "end": 46}], "disease": [{"text": "aphthous stomatitis", "start": 95, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Alterations in the signaling pathways of epidermal growth factor receptors (HERs) are associated with tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 41, "end": 64}], "disease": [{"text": "aggressiveness", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).", "output": {"entities": {"gene": [{"text": "GALNS", "start": 75, "end": 80}], "disease": [{"text": "MPS IVA", "start": 122, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALNS", "start": 75, "end": 80}, "tail": {"text": "MPS IVA", "start": 122, "end": 129}}]}}, "schema": []}
{"input": "Our results can suggest that neuroprotective effects of vitamin C in adult rats can be the result of reduced lipid peroxidation levels and increase of catalase activity after seizures and status epilepticus induced by pilocarpine.", "output": {"entities": {"gene": [{"text": "catalase", "start": 151, "end": 159}], "disease": [{"text": "status epilepticus", "start": 188, "end": 206}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 151, "end": 159}, "tail": {"text": "status epilepticus", "start": 188, "end": 206}}]}}, "schema": []}
{"input": "Farnesyltransferase inhibitor tipifarnib inhibits Rheb prenylation and stabilizes Bax in acute myelogenous leukemia cells.", "output": {"entities": {"gene": [{"text": "Rheb", "start": 50, "end": 54}], "disease": [{"text": "acute myelogenous leukemia", "start": 89, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the HIF binding site within the ITGB1 promoter resulted in a significant loss of ITGB1 hypoxia-inducibility.", "output": {"entities": {"gene": [{"text": "ITGB1", "start": 55, "end": 60}], "disease": [{"text": "hypoxia", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Finding germline PTEN mutations in patients with BRRS, PS, and PSL suggests equivalent risks of developing malignancy as in CS with implications for medical management.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 17, "end": 21}], "disease": [{"text": "PS", "start": 55, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 17, "end": 21}, "tail": {"text": "PS", "start": 55, "end": 57}}]}}, "schema": []}
{"input": "In contrast, induction of the rat HSP70/chloramphenicol acetyltransferase constructs by hypoxia is only detectable when both HSEs are present.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 34, "end": 39}], "disease": [{"text": "hypoxia", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In addition, since low pIGF-IR expression was found to correlate with aggressive human thyroid carcinoma, it also suggests that IGF-IR may not be needed for progression of anaplastic thyroid carcinoma possibly because other cell signaling pathways are activated, obviating the need for IGF-IR signaling.", "output": {"entities": {"gene": [{"text": "IGF", "start": 24, "end": 27}], "disease": [{"text": "anaplastic thyroid carcinoma", "start": 172, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "SLC26A4 mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enlargement of the vestibular aqueduct; nonsyndromic EVA).", "output": {"entities": {"gene": [{"text": "EVA", "start": 207, "end": 210}], "disease": [{"text": "enlargement", "start": 154, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "HSPA5", "start": 112, "end": 117}], "disease": [{"text": "SCA17", "start": 179, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA5", "start": 112, "end": 117}, "tail": {"text": "SCA17", "start": 179, "end": 184}}]}}, "schema": []}
{"input": "Blood was taken from the proband and his parents, genomic DNA was isolated and some candidate genes for cataract (CRYAA, CRYBB2, GJA8) or macular hypoplasia (OA1, P) or both (PAX6) were analyzed.", "output": {"entities": {"gene": [{"text": "CRYBB2", "start": 121, "end": 127}], "disease": [{"text": "macular hypoplasia", "start": 138, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), GRB2-associated binding protein 1 (GAB1), S100P, and claudin-4 were significantly lower in PCOS endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated.", "output": {"entities": {"gene": [{"text": "Anillin", "start": 258, "end": 265}], "disease": [{"text": "PCOS", "start": 198, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Anillin", "start": 258, "end": 265}, "tail": {"text": "PCOS", "start": 198, "end": 202}}]}}, "schema": []}
{"input": "We found that, unlike sporadic colorectal cancer and control patients, patients with CAC show activated VEGFR2 on intestinal epithelial cells (IECs).", "output": {"entities": {"gene": [{"text": "VEGFR2", "start": 104, "end": 110}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Approximately 120 distinct missense variants have been identified in the BRCA1 BRCT through breast cancer screening, and several of these have been linked to an increased cancer risk.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 73, "end": 78}], "disease": [{"text": "breast cancer", "start": 92, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 73, "end": 78}, "tail": {"text": "breast cancer", "start": 92, "end": 105}}]}}, "schema": []}
{"input": "The final diagnosis was revised to rare subtype of MCL with CCND2 translocation and intensive regimens were employed.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 60, "end": 65}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In this study, we exposed wild-type and genetically engineered mif (-/-) mice to 20 Gy single-fraction thoracic radiation to investigate the age-related role of MIF in murine RILI (mice were aged 8 wk, 8 mo, or 16 mo).", "output": {"entities": {"gene": [{"text": "MIF", "start": 161, "end": 164}], "disease": [{"text": "thoracic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "FISH study ruled out the presence of a Y-bearing cell line, and confirmed translocation of SRY to Xp terminal part.", "output": {"entities": {"gene": [{"text": "SRY", "start": 91, "end": 94}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Expression of costimulatory molecules CD80 and CD86 and their receptors CD28, CTLA-4 on malignant ascites CD3 + tumour-infiltrating lymphocytes (TIL) from patients with ovarian and other types of peritoneal carcinomatosis.", "output": {"entities": {"gene": [{"text": "TIL", "start": 145, "end": 148}], "disease": [{"text": "peritoneal carcinomatosis", "start": 196, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "There was also a significant increase for these variables in non-proband TS relatives versus non-TS relatives, indicating the association of depression with Gts genes was not due to ascertainment bias or the inappropriate choice of controls.", "output": {"entities": {"gene": [{"text": "Gts", "start": 157, "end": 160}], "disease": [{"text": "depression", "start": 141, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gts", "start": 157, "end": 160}, "tail": {"text": "depression", "start": 141, "end": 151}}]}}, "schema": []}
{"input": "We hypothesized that the functional polymorphisms in IGF-I and IGFBP-3 may be associated with the risk of prostate cancer (PCa) in the Chinese population.", "output": {"entities": {"gene": [{"text": "IGFBP-3", "start": 63, "end": 70}], "disease": [{"text": "prostate cancer", "start": 106, "end": 121}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGFBP-3", "start": 63, "end": 70}, "tail": {"text": "prostate cancer", "start": 106, "end": 121}}]}}, "schema": []}
{"input": "This suggests that in sporadic meningiomas and NF2-associated tumors the NF2 gene functions as a recessive tumor-suppressor gene.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 73, "end": 81}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice.", "output": {"entities": {"gene": [{"text": "alpha-1-antitrypsin", "start": 50, "end": 69}], "disease": [{"text": "lung tumor", "start": 220, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha-1-antitrypsin", "start": 50, "end": 69}, "tail": {"text": "lung tumor", "start": 220, "end": 230}}]}}, "schema": []}
{"input": "Re-analysis of a microarray database of human postmortem prefrontal cortex (Brodmann' s Area 46/10) found that RNF41 messenger RNA expression levels were reduced significantly in patients with major depression and bipolar disorder compared with unaffected control subjects and confirmed by qRT-PCR.", "output": {"entities": {"gene": [{"text": "RNF41", "start": 111, "end": 116}], "disease": [{"text": "major depression", "start": 193, "end": 209}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNF41", "start": 111, "end": 116}, "tail": {"text": "major depression", "start": 193, "end": 209}}]}}, "schema": []}
{"input": "The apoptotic death of putaminal neurons and glia in a patient with hereditary ferritinopathy is studied immunohistochemically with antibodies to p53, activated caspase-3, PUMA, BAX, cytochrome c, and inducible nitric oxide synthase.", "output": {"entities": {"gene": [{"text": "BAX", "start": 178, "end": 181}], "disease": [{"text": "hereditary ferritinopathy", "start": 68, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Mutation screening of the FSH receptor gene in infertile men.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 26, "end": 38}], "disease": [{"text": "infertile", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In summary, MMP-13 is androgen regulated and detectable in prostate cancer.", "output": {"entities": {"gene": [{"text": "MMP-13", "start": 12, "end": 18}], "disease": [{"text": "prostate cancer", "start": 59, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-13", "start": 12, "end": 18}, "tail": {"text": "prostate cancer", "start": 59, "end": 74}}]}}, "schema": []}
{"input": "IFN-gamma-specific mRNA in antigen-stimulated PBMC from endemic normals appeared to be more prominent than in cells from onchocerciasis patients.", "output": {"entities": {"gene": [{"text": "IFN", "start": 0, "end": 3}], "disease": [{"text": "onchocerciasis", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Atrial natriuretic peptide (ANP) is a known vascular antipermeability and antiangiogenic factor, but its possible alteration during the early stages of diabetic retinopathy has not yet been explored.", "output": {"entities": {"gene": [{"text": "ANP", "start": 28, "end": 31}], "disease": [{"text": "diabetic retinopathy", "start": 152, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In the case of A431 cells, H-296-coated dishes significantly increased the amount of expressed CAT and the adhesion of electroporated cells in comparison with non-coated dishes.", "output": {"entities": {"gene": [{"text": "CAT", "start": 95, "end": 98}], "disease": [{"text": "adhesion", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We have investigated this reported association within our familial and sporadic AD dataset, where we find no independent association between ACT and the occurrence of AD.", "output": {"entities": {"gene": [{"text": "ACT", "start": 141, "end": 144}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Evidence is also provided suggesting that shock engages a neuronal circuitry without having any negative effects on neuronal survival at 24 h. These results suggest that nociceptive activity following SCI decreases BDNF and TrkB levels, which may significantly contribute to diminished functional recovery.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 215, "end": 219}], "disease": [{"text": "shock", "start": 42, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "No significant difference in the peritoneal LTF levels was found between patients with stage II endometriosis, stage III or IV endometriotic disease and women with functional cysts of ovaries.", "output": {"entities": {"gene": [{"text": "LTF", "start": 44, "end": 47}], "disease": [{"text": "cysts", "start": 175, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Dorsal agenesis of the pancreas (DAP) is a rare congenital anomaly, with only 44 cases having been reported in the English literature since 1966.", "output": {"entities": {"gene": [{"text": "DAP", "start": 33, "end": 36}], "disease": [{"text": "agenesis", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "In portal-systemic encephalopathy resulting from chronic liver failure, astrocytes manifest altered expression of several key proteins and enzymes including monoamine oxidase B, glutamine synthetase, and the so-called peripheral-type benzodiazepine receptors.", "output": {"entities": {"gene": [{"text": "monoamine oxidase B", "start": 157, "end": 176}], "disease": [{"text": "portal-systemic encephalopathy", "start": 3, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "monoamine oxidase B", "start": 157, "end": 176}, "tail": {"text": "portal-systemic encephalopathy", "start": 3, "end": 33}}]}}, "schema": []}
{"input": "The frequency with which the subjects carried homozygotes of the CYP2A6 gene deletion allele, which causes lack of the enzyme activity, was significantly higher in the gastric cancer patients than in the healthy control subjects (OR = 3. 14, 95% confidence interval (95% CI) = 1. 05-9. 41).", "output": {"entities": {"gene": [{"text": "CYP2A6", "start": 65, "end": 71}], "disease": [{"text": "gastric cancer", "start": 168, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2A6", "start": 65, "end": 71}, "tail": {"text": "gastric cancer", "start": 168, "end": 182}}]}}, "schema": []}
{"input": "The present results provided evidence that the genetic polymorphisms of IL-17A, and MIF-794-CATT repeat are associated with CIHM status in the gastric cancer.", "output": {"entities": {"gene": [{"text": "MIF", "start": 84, "end": 87}], "disease": [{"text": "gastric cancer", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest that MTDH could promote EMT in breast cancer cells in driving the progression of their aggressive behavior.", "output": {"entities": {"gene": [{"text": "MTDH", "start": 41, "end": 45}], "disease": [{"text": "aggressive behavior", "start": 123, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial membrane protein-associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations.", "output": {"entities": {"gene": [{"text": "C19orf12", "start": 108, "end": 116}], "disease": [{"text": "Mitochondrial membrane protein-associated neurodegeneration", "start": 0, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C19orf12", "start": 108, "end": 116}, "tail": {"text": "Mitochondrial membrane protein-associated neurodegeneration", "start": 0, "end": 59}}]}}, "schema": []}
{"input": "Statistical analysis by one-factor ANOVA revealed no significant relationship of any allele, genotype or haplotype with age, sex, body mass index, heart rate, systolic or diastolic blood pressure, hypertension, the intake of antihypertensive medication or left ventricular mass.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 35, "end": 40}], "disease": [{"text": "diastolic blood pressure", "start": 171, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "It is well established that calcitonin is a potent inhibitor of bone resorption; however, a physiological role for calcitonin acting through its cognate receptor, the calcitonin receptor (CTR), has not been identified.", "output": {"entities": {"gene": [{"text": "CTR", "start": 188, "end": 191}], "disease": [{"text": "bone resorption", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Finally, we used a subcutaneous xenograft mouse model to show that AVEN knockdown in the T-ALL cell lines, MOLT-4 and CCRF-CEM, and in the acute myeloblastic leukemia cell line, Kasumi-1, leads to a halt in tumor growth owing to the increased apoptosis and decreased proliferation of tumor cells.", "output": {"entities": {"gene": [{"text": "AVEN", "start": 67, "end": 71}], "disease": [{"text": "acute myeloblastic leukemia", "start": 139, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We found that the expression of the 13 genes were significantly (P < 0. 01) down-regulated in grade II, III, IV of astrocytoma compared to normal brain tissues, including ERCC1, ERCC2, ERCC3, ERCC4, MGMT, MLH1, MLH3, NTHL1, OGG1, RAD50, SMUG1, XRCC4 and XRCC5.", "output": {"entities": {"gene": [{"text": "ERCC2", "start": 178, "end": 183}], "disease": [{"text": "astrocytoma", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The present study sought to investigate the contribution of an autophagy inhibitor (3-methyladenine, 3-MA) on the regulation of ZnTs, microtubule-associated protein 1A/1B light chain 3 (LC3), and beclin-1 expression in rat hippocampus following recurrent neonatal seizures.", "output": {"entities": {"gene": [{"text": "LC3", "start": 186, "end": 189}], "disease": [{"text": "neonatal seizures", "start": 255, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Inadequate early Th1 and Treg responses and increased production of Th2 cytokines are associated with atopy.", "output": {"entities": {"gene": [{"text": "Th1", "start": 17, "end": 20}], "disease": [{"text": "atopy", "start": 102, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We describe a previously independent T11 paraplegic patient who had delayed-onset hand weakness and recurrent pneumonia caused by myotonic dystrophy.", "output": {"entities": {"gene": [{"text": "T11", "start": 37, "end": 40}], "disease": [{"text": "recurrent pneumonia", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Our results present new advances in the post-transcriptional miR-mediated mechanisms of uPA and they suggest a new strategy to impair the aggressive behavior of HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 161, "end": 164}], "disease": [{"text": "aggressive behavior", "start": 138, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We report a severe case of EHK with a single base pair mutation that causes a threonine for asparagine substitution in residue 8 (N8T) of the 1A region of the keratin 1 protein.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 159, "end": 168}], "disease": [{"text": "EHK", "start": 27, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 159, "end": 168}, "tail": {"text": "EHK", "start": 27, "end": 30}}]}}, "schema": []}
{"input": "Disturbance of these neurodevelopmental processes is proposed as one of the etiologies for mood disorder, and genetic polymorphisms of S100B have a possibility to be in susceptibility to major depressive disorder (MDD).", "output": {"entities": {"gene": [{"text": "S100B", "start": 135, "end": 140}], "disease": [{"text": "mood disorder", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 135, "end": 140}, "tail": {"text": "mood disorder", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "Co-culture of T cells with Tim-3 knock-down macrophages led to a biased T helper type 2 (Th2) response, partially explaining how Tim-3 signalling shapes inflammation patterns in vivo.", "output": {"entities": {"gene": [{"text": "Tim-3", "start": 27, "end": 32}], "disease": [{"text": "inflammation", "start": 153, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that inactivating IDH1 and IDH2 mutations might also play a role in paraganglioma and pheochromocytoma tumorigenesis, especially in non-SDH-or non-VHL-related tumors.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 50, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46, XX and 46, XY French-Canadians: evaluation of gonadal function after puberty.", "output": {"entities": {"gene": [{"text": "HSD3B2", "start": 40, "end": 46}], "disease": [{"text": "3beta-hydroxysteroid dehydrogenase deficiency", "start": 80, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD3B2", "start": 40, "end": 46}, "tail": {"text": "3beta-hydroxysteroid dehydrogenase deficiency", "start": 80, "end": 125}}]}}, "schema": []}
{"input": "We identified ten suggestive loci (p-value ≤ 1E-5), including genes/loci that have been previously implicated in chronic periodontitis: LAMA2, HAS2, CDH2, ESR1, and the genomic region on chromosome 14q21-22 between SOS2 and NIN.", "output": {"entities": {"gene": [{"text": "LAMA2", "start": 136, "end": 141}], "disease": [{"text": "chronic periodontitis", "start": 113, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Cell lines of CTA/MAF and MAF groups have a translocation involving C-MAF or MAFB, cell lines of groups CCND1-1 and CCND1-2like have a t (11; 14) and cell lines of group MMSET have a t (4; 14).", "output": {"entities": {"gene": [{"text": "C-MAF", "start": 68, "end": 73}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The molecular basis of autosomal dominant neurohypophyseal diabetes insipidus, a hereditary deficiency of vasopressin, was determined by nucleotide sequence analysis of the arginine vasopressin-neurophysin-II gene.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 173, "end": 193}], "disease": [{"text": "neurohypophyseal diabetes insipidus", "start": 42, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "arginine vasopressin", "start": 173, "end": 193}, "tail": {"text": "neurohypophyseal diabetes insipidus", "start": 42, "end": 77}}]}}, "schema": []}
{"input": "Twenty patients with the deletion/deletion UCP2 genotype had a significant increase in body weight (3. 0 +/-0. 8 vs.-1. 0 +/-1. 1 kg, P < 0. 01) and body fat mass (3. 8 +/-0. 9 vs. 0. 8 +/-1. 0 kg, P < 0. 05) during PD, compared with 19 patients with an insertion/deletion UCP2 genotype.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 43, "end": 47}], "disease": [{"text": "body weight", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The high incidence of this alteration and the significant effects of SGNE1/7B2 on the growth and apoptosis of glioblastoma cells provide a first proof for a functional implication of SGNE1/7B2 inactivation in the molecular pathology of gliomas.", "output": {"entities": {"gene": [{"text": "7B2", "start": 75, "end": 78}], "disease": [{"text": "gliomas", "start": 236, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Importantly, the aggressiveness in PTHR1-expressing cells was completely reversed by RNAi mediated gene knockdown.", "output": {"entities": {"gene": [{"text": "PTHR1", "start": 35, "end": 40}], "disease": [{"text": "aggressiveness", "start": 17, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Individual TSPO density values were significantly and negatively correlated with both SCI-SAS-A and ASA-27 total scores, but not with HAM-D total score or HAM-D anxiety/somatization factor score.", "output": {"entities": {"gene": [{"text": "TSPO", "start": 11, "end": 15}], "disease": [{"text": "somatization", "start": 169, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Lamin A-dependent nuclear defects in human aging.", "output": {"entities": {"gene": [{"text": "Lamin A", "start": 0, "end": 7}], "disease": [{"text": "aging", "start": 43, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Some families affected by von Willebrand disease type 1 show high penetrance with exceptionally low von Willebrand factor (VWF) levels.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 100, "end": 121}], "disease": [{"text": "von Willebrand disease type 1", "start": 26, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "von Willebrand factor", "start": 100, "end": 121}, "tail": {"text": "von Willebrand disease type 1", "start": 26, "end": 55}}]}}, "schema": []}
{"input": "These findings reinforce our understanding of the mechanisms underlying PGL tumorigenesis and point to the yeast Shh4 as a good model to investigate the possible pathogenic relevance of SDHD in PGL polymorphisms.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 186, "end": 190}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Primary sporadic breast tumours were analysed for BRCA1alpha promoter methylation by methylation specific PCR and for allelic imbalance (AI) at BRCA1 and BRCA2 loci by microsatellite analysis and TP53 (also known as p53) mutations by constant denaturing gel electrophoresis.", "output": {"entities": {"gene": [{"text": "p53", "start": 216, "end": 219}], "disease": [{"text": "sporadic", "start": 8, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Changes in oligodendroglia-related genes reported in SZ, BD and MDD appear to display considerable similarities (particularly decreased expression of MAG, ERBB, TF, PLP1, MOG, MOBP, MOG), while changes in cocaine abuse and alcoholism are more diverse.", "output": {"entities": {"gene": [{"text": "ERBB", "start": 155, "end": 159}], "disease": [{"text": "alcoholism", "start": 223, "end": 233}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERBB", "start": 155, "end": 159}, "tail": {"text": "alcoholism", "start": 223, "end": 233}}]}}, "schema": []}
{"input": "The present study was undertaken to examine whether the renal structural abnormalities are greater in hypertensive (HBP) versus normotensive (NBP) male and female patients with ADPKD who were matched within gender groups for age, body surface area, serum creatinine concentration (males HBP 1. 2 +/-0. 02 vs. NBP 1. 1 +/-0. 03 mg/dl.", "output": {"entities": {"gene": [{"text": "HBP", "start": 116, "end": 119}], "disease": [{"text": "abnormalities", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The hypermethylation of ring finger protein (RNF) 180 DNA promoter is significantly associated with lymph node metastasis of gastric cancer.", "output": {"entities": {"gene": [{"text": "RNF", "start": 45, "end": 48}], "disease": [{"text": "lymph node metastasis", "start": 100, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We found the following: (i) decreased secretion with intracellular aggregation of TTR L12P in hepatoma cells relative to WT and V30M variant; this differential property of TTR L12P variant was also observed in mice injected with L12P AAV vector; (ii) differential N-glycosylation pattern of L12P variant in hepatoma cell lysates, conditioned media and mouse sera, which might represent an escape mechanism from ERAD degradation; (iii) intracellular L12P TTR aggregates mainly localized to lysosomes in cultured cells and liver; and (iv) none of the above findings were present in choroid plexus derived cells, suggesting particular secretion/quality control mechanisms that might contribute to leptomeningeal amyloidosis associated with the L12P variant.", "output": {"entities": {"gene": [{"text": "AAV", "start": 234, "end": 237}], "disease": [{"text": "hepatoma", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The apparent linkage between non-cancer proneness and a lack of ER and ODC induction was confirmed in a fibroblast strain derived from a patient with another DNA repair disorder, trichothiodystrophy, which does not lead to cancer proneness: in these cells, no induction of the ER response nor of ODC occurs after UV-C irradiation.", "output": {"entities": {"gene": [{"text": "ODC", "start": 71, "end": 74}], "disease": [{"text": "trichothiodystrophy", "start": 179, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression of SV2B clearly is altered not only in PAN nephropathy but also in another proteinuric state that is caused by an antibody against nephrin, a functional molecule of the slit diaphragm.", "output": {"entities": {"gene": [{"text": "SV2B", "start": 23, "end": 27}], "disease": [{"text": "nephropathy", "start": 63, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SV2B", "start": 23, "end": 27}, "tail": {"text": "nephropathy", "start": 63, "end": 74}}]}}, "schema": []}
{"input": "We analyzed immunologic (CD4 and CD8 slopes; interferon-gamma, interleukin-2, interleukin-10, and chemokines production; concentration of IgE; beta 2-microglobulin) and virologic (p24; HIV isolability and phenotype; plasma viremia) parameters in HIV vertically infected children > or = 8 years of age without disease progression or mild symptoms and an absolute CD4 + count > or = 500/microliter with CD4 + percentage > or = 25%.", "output": {"entities": {"gene": [{"text": "CD4", "start": 25, "end": 28}], "disease": [{"text": "viremia", "start": 223, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "McArdle' s disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 91, "end": 107}], "disease": [{"text": "McArdle' s disease", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 91, "end": 107}, "tail": {"text": "McArdle' s disease", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "It has been associated with rearrangements of the BCL3 gene, which is located at the breakpoint on chromosome 19 and is juxtaposed to the immunoglobulin heavy chain locus on chromosome 14 as a result of the translocation.", "output": {"entities": {"gene": [{"text": "BCL3 gene", "start": 50, "end": 59}], "disease": [{"text": "translocation", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Although common insulin resistance is associated with several biochemical perturbations, including elevated C-reactive protein (CRP), the biochemical profile in subjects with mutant LMNA is incompletely defined.", "output": {"entities": {"gene": [{"text": "CRP", "start": 128, "end": 131}], "disease": [{"text": "insulin resistance", "start": 16, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "To determine if increased local production of glucocorticoids by the pancreatic islets might play a role in the spontaneous noninsulin-dependent diabetes mellitus of obesity, we compared islet 11beta-HSD-1 mRNA and activity in islets of obese prediabetic and diabetic Zucker Diabetic Fatty (ZDF) (fa/fa) rats and lean wild-type (+/+) controls.", "output": {"entities": {"gene": [{"text": "HSD-1", "start": 200, "end": 205}], "disease": [{"text": "noninsulin-dependent diabetes mellitus", "start": 124, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The gene encoding the potent endogenous telomerase inhibitor PinX1 (PIN2/TRF1-interacting, telomerase inhibitor 1) is located at human chromosome 8p23, a region frequently exhibiting heterozygosity in many common human cancers, but the function or functions of PinX1 in development and tumorigenesis are unknown.", "output": {"entities": {"gene": [{"text": "TRF1", "start": 73, "end": 77}], "disease": [{"text": "tumorigenesis", "start": 286, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.", "output": {"entities": {"gene": [{"text": "CLRN1", "start": 43, "end": 48}], "disease": [{"text": "Usher syndrome type 3", "start": 71, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLRN1", "start": 43, "end": 48}, "tail": {"text": "Usher syndrome type 3", "start": 71, "end": 92}}]}}, "schema": []}
{"input": "Increased T cell activation was associated with shorter duration of viral suppression, hepatitis C virus coinfection, frequent low-level viremia, and lower nadir CD4 (+) T cell counts.", "output": {"entities": {"gene": [{"text": "CD4", "start": 162, "end": 165}], "disease": [{"text": "viremia", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In an effort to improve the therapeutic effect of a MAb-based regimen in colorectal carcinoma (CRC) patients, the effects of a combination of alpha-interferon (alpha-IFN), 5-fluorouracil (5-FU), granulocyte-macrophage colony-stimulating factor (GM-CSF) and mouse MAb17-1A was evaluated in 27 patients with metastatic disease. alpha-IFN was given s. c. once daily for 5 consecutive days and at days 4 and 5, 5-FU was administered as a daily i. v. bolus injection.", "output": {"entities": {"gene": [{"text": "granulocyte-macrophage colony-stimulating factor", "start": 195, "end": 243}], "disease": [{"text": "colorectal carcinoma", "start": 73, "end": 93}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte-macrophage colony-stimulating factor", "start": 195, "end": 243}, "tail": {"text": "colorectal carcinoma", "start": 73, "end": 93}}]}}, "schema": []}
{"input": "Our data suggest that preferential involvement of the HER2 gene in micropapillary and apocrine breast carcinomas may contribute to their aggressive behaviour.", "output": {"entities": {"gene": [{"text": "HER2 gene", "start": 54, "end": 63}], "disease": [{"text": "aggressive behaviour", "start": 137, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Since we could separate BRCA1-like, BRCA2-like, and sporadic-like tumors, using our current BRCA2-and previous BRCA1-classifier, this method of breast tumor classification could be applied as additional test for current diagnostics to help clinicians in decision making and classifying sequence variants of unknown significance.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 36, "end": 41}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Since macrophages and macrophage-derived cytokines appear to be important in the transcriptional regulation of \" high-risk \" types of human papillomaviruses (HPV), we monitored MCP-1 expression by in situ hybridization (ISH) in histologically distinct stages of cervical intra-epithelial neoplasms (CIN), cervical cancer and non-HPV-associated cases of erosive endocervicitis.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 177, "end": 182}], "disease": [{"text": "epithelial neoplasms", "start": 277, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Identification of Sp2 as a transcriptional repressor of carcinoembryonic antigen-related cell adhesion molecule 1 in tumorigenesis.", "output": {"entities": {"gene": [{"text": "carcinoembryonic antigen-related cell adhesion molecule 1", "start": 56, "end": 113}], "disease": [{"text": "tumorigenesis", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The prevention of both diabetes and thyroiditis by CD4 (+) CD45RC-peripheral cells and CD4 (+) CD8 (-) thymocytes therefore does not support the view that the mechanism of regulation involves a switch from a T helper cell type 1 (Th1) to a Th2-like response, but rather relies upon a specific suppression of the autoimmune responses involving TGF-beta and IL-4.", "output": {"entities": {"gene": [{"text": "Th1", "start": 230, "end": 233}], "disease": [{"text": "thyroiditis", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Pre-retinal neovascularization and intra-retinal ischaemia was quantified at P17 and PEDF protein expression was determined using immunofluorescence in retinal flatmounts and sections.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 85, "end": 89}], "disease": [{"text": "retinal neovascularization", "start": 4, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "N-myc (and STAT) interactor (NMI) gene has been reported in tumorigenesis, and our previous study further showed its implication in glioma progression.", "output": {"entities": {"gene": [{"text": "NMI", "start": 29, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "A 21-year-old man with Tourette' s syndrome, pedophilia, Asperger' s syndrome, and multiple sclerosis experienced seizures after receiving therapy with interferon beta-1a.", "output": {"entities": {"gene": [{"text": "interferon beta", "start": 152, "end": 167}], "disease": [{"text": "seizures", "start": 114, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interferon beta", "start": 152, "end": 167}, "tail": {"text": "seizures", "start": 114, "end": 122}}]}}, "schema": []}
{"input": "The miRNAs differentially expressed in HCV-related HCC were investigated by comparing the tumorous tissues to a wide range of liver specimens, including healthy livers obtained from liver donors and patients who underwent liver resection for angioma, in addition to tissues from various acute and chronic liver diseases, including HCV-related cirrhosis not associated with HCC, HCV-related cirrhosis associated with HCC and HBV-associated acute liver failure.", "output": {"entities": {"gene": [{"text": "HCC", "start": 51, "end": 54}], "disease": [{"text": "angioma", "start": 242, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of SOX2, NOTCH1, and ID1 in supratentorial primitive neuroectodermal tumors: a distinct differentiation pattern from that of medulloblastomas.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 16, "end": 20}], "disease": [{"text": "primitive neuroectodermal tumors", "start": 56, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Combined analysis revealed that atopic asthmatic children co-inherited the risk alleles of TNF-alpha-308G/A and IL-13 + 2044G/A more frequently than control children (aOR 1. 91, 95% CI 1. 00-3. 65), and asthmatic children co-inheriting both risk alleles had significantly lower PC (20) values vs. asthmatic children homozygous for the common alleles (P = 0. 024).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 112, "end": 117}], "disease": [{"text": "atopic", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "However, ADH1B or ADH1C genotypes did not markedly modify the risk observed after stratification by alcohol consumption, and stratification by cumulative smoking exposure (in packyears) did not show an association of GSTM1 or GSTT1 genotype with laryngeal carcinoma either.", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 18, "end": 23}], "disease": [{"text": "smoking", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "An important element of the mammalian innate defense system against invasive bacterial infections such as GAS is the production of antimicrobial peptides (AMPs) such as cathelicidins.", "output": {"entities": {"gene": [{"text": "GAS", "start": 106, "end": 109}], "disease": [{"text": "bacterial infections", "start": 77, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The IL1B TT haplotype (3962T and-511T) was also associated with atopy and moderate-persistent asthma.", "output": {"entities": {"gene": [{"text": "IL1B", "start": 4, "end": 8}], "disease": [{"text": "atopy", "start": 64, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.", "output": {"entities": {"gene": [{"text": "Caspase 10", "start": 16, "end": 26}], "disease": [{"text": "autoimmune lymphoproliferative syndrome type II", "start": 99, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Caspase 10", "start": 16, "end": 26}, "tail": {"text": "autoimmune lymphoproliferative syndrome type II", "start": 99, "end": 146}}]}}, "schema": []}
{"input": "The ORC5L gene encoding a subunit of the human origin recognition complex (ORC) maps to chromosome band 7q22, a region frequently deleted in adult acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).", "output": {"entities": {"gene": [{"text": "ORC5L", "start": 4, "end": 9}], "disease": [{"text": "adult acute myeloid leukemia", "start": 141, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In summary, our findings provide additional insights into the role of NF-kappaB transcriptional regulation in hippocampus following status epilepticus and suggest that NF-kappaB pathway activation contributes to seizure susceptibility.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 70, "end": 79}], "disease": [{"text": "status epilepticus", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Production of heat shock protein 70 (HSP70/HSPA) is induced by a wide range of cellular stress conditions, such as cancer and hypoxia, with production also being linked to tumourigenesis.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 37, "end": 42}], "disease": [{"text": "hypoxia", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that the ARF-MDM-2-p53 apoptotic pathway is disrupted in about 55% of the cases of childhood sporadic BL.", "output": {"entities": {"gene": [{"text": "p53", "start": 40, "end": 43}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Crouzon syndrome (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, ocular proptosis, and maxillary hypoplasia.", "output": {"entities": {"gene": [{"text": "MIM", "start": 18, "end": 21}], "disease": [{"text": "craniosynostosis", "start": 69, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We sought to elucidate the role of genetic variability in the gene encoding the p22 (phox) subunit of the NADPH oxidase (CYBA, 16q24. 3) in asthma susceptibility by means of an association study of haplotypes based on 3 common single nucleotide polymorphisms (SNPs),-930A/G, 242C/T (H72Y) and 640A/G.", "output": {"entities": {"gene": [{"text": "p22", "start": 80, "end": 83}], "disease": [{"text": "asthma susceptibility", "start": 140, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We find that all of the detrimental phenotypes observed in Akita diabetes are enhanced by lack of both B1R and B2R, including urinary albumin excretion, glomerulosclerosis, glomerular basement membrane thickening, mitochondrial DNA deletions, reduction of nerve conduction velocities and of heat sensation, and bone mineral loss.", "output": {"entities": {"gene": [{"text": "B1R", "start": 103, "end": 106}], "disease": [{"text": "diabetes", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The analysis of CIS, SOCS1, SOSC2 and SOCS3 transcript levels in peripheral blood mononuclear cells of systemic lupus erythematosus and rheumatoid arthritis patients.", "output": {"entities": {"gene": [{"text": "SOCS1", "start": 21, "end": 26}], "disease": [{"text": "arthritis", "start": 147, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Update on SLC26A3 mutations in congenital chloride diarrhea.", "output": {"entities": {"gene": [{"text": "SLC26A3", "start": 10, "end": 17}], "disease": [{"text": "congenital chloride diarrhea", "start": 31, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A3", "start": 10, "end": 17}, "tail": {"text": "congenital chloride diarrhea", "start": 31, "end": 59}}]}}, "schema": []}
{"input": "One of these, FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy.", "output": {"entities": {"gene": [{"text": "FKHL7", "start": 14, "end": 19}], "disease": [{"text": "monosomy", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Controlling for age, sex, education, smoking, body mass index, and antioxidant treatment, the number of minor (T) alleles of the genes LIPC and ABCA1 were significantly associated with a reduced risk of intermediate drusen (LIPC [P trend = 0. 045], ABCA1 [P = 4. 4 × 10 (-3)]), large drusen (LIPC [P = 0. 041], ABCA1 [P = 7. 7 × 10 (-4)]), and advanced AMD (LIPC [P = 1. 8 × 10 (-3)], ABCA1 [P = 3 × 10 (-4)]).", "output": {"entities": {"gene": [{"text": "LIPC", "start": 135, "end": 139}], "disease": [{"text": "smoking", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We screened five Korean familial gastric cancer patients to investigate germline mutations of the E-cadherin gene.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 98, "end": 108}], "disease": [{"text": "familial gastric cancer", "start": 24, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "E-cadherin", "start": 98, "end": 108}, "tail": {"text": "familial gastric cancer", "start": 24, "end": 47}}]}}, "schema": []}
{"input": "Circulating levels of interleukin-6 (IL-6), soluble IL-6 receptor (sIL-6R), tumor necrosis factor-alpha-receptor (TNF-RII), and soluble intercellular adhesion molecule (sICAM) did not differ between those with and without depression.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor-alpha-receptor", "start": 76, "end": 112}], "disease": [{"text": "depression", "start": 222, "end": 232}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor-alpha-receptor", "start": 76, "end": 112}, "tail": {"text": "depression", "start": 222, "end": 232}}]}}, "schema": []}
{"input": "Cumulatively, the data suggest that epigenetic variation at SKA2 mediates vulnerability to suicidal behaviors and PTSD through dysregulation of the HPA axis in response to stress.", "output": {"entities": {"gene": [{"text": "HPA", "start": 148, "end": 151}], "disease": [{"text": "suicidal", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Thirty-three patients (18. 9%) had multiple PGLs and 11 patients (6. 3%) had a malignant paraganglioma.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 44, "end": 48}], "disease": [{"text": "malignant paraganglioma", "start": 79, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Preferential V beta3 usage by hepatic T lymphocytes in patients with primary sclerosing cholangitis.", "output": {"entities": {"gene": [{"text": "beta3", "start": 15, "end": 20}], "disease": [{"text": "primary sclerosing cholangitis", "start": 69, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Acute liver failure (ALF) is defined as severe and sudden liver dysfunction leading to coagulopathy and encephalopathy in a previously healthy person without preexisting liver disease.", "output": {"entities": {"gene": [{"text": "ALF", "start": 21, "end": 24}], "disease": [{"text": "liver dysfunction", "start": 58, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "During the period of observation, 8% (4/48) of B19-seronegative patients seroconverted and infection triggered profound anemia and thrombocytopenia.", "output": {"entities": {"gene": [{"text": "B19", "start": 47, "end": 50}], "disease": [{"text": "thrombocytopenia", "start": 131, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In the present study we have analysed the association between the Gly482Ser missense mutation of the PGC-1alpha gene and insulin sensitivity and glucose tolerance in a population of obese non-diabetic subjects.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 101, "end": 111}], "disease": [{"text": "insulin sensitivity", "start": 121, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The BCL3 gene was initially discovered through its involvement in a recurring translocation, t (14; 19) (q32; q13), which is found in some patients with B-cell chronic lymphocytic leukemia (B-CLL).", "output": {"entities": {"gene": [{"text": "BCL3 gene", "start": 4, "end": 13}], "disease": [{"text": "translocation", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our results show that a family history of Type 2 diabetes is an independent contributor of CRP concentrations, in addition to age, total fatness, central fat accumulation, and insulin resistance.", "output": {"entities": {"gene": [{"text": "CRP", "start": 91, "end": 94}], "disease": [{"text": "insulin resistance", "start": 176, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "IL-13, RANTES (Regulated on Activation, Normal T cells Expressed and Secreted), and cysteinyl leukotrienes are asthma and atopy mediators.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 7, "end": 13}], "disease": [{"text": "atopy", "start": 122, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "H. pylori increases mmp-7 mRNA levels in a cag-and p120-dependent manner and induces translocation of p120 to the nucleus in vitro and in a novel ex vivo gastric gland culture system.", "output": {"entities": {"gene": [{"text": "p120", "start": 51, "end": 55}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The competitive inhibitor of LPA1 and LPA3 receptors, Ki16425, inhibits efficiently breast cancer bone metastases in animal models.", "output": {"entities": {"gene": [{"text": "LPA1", "start": 29, "end": 33}], "disease": [{"text": "bone metastases", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Our data revealed that aberrant LSD1 overexpression in OSCC was significantly associated with tumor aggressiveness and shorter overall survival.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 32, "end": 36}], "disease": [{"text": "aggressiveness", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Three very recent reports showed the evidence that the IL3 gene, colony stimulating factor 2 receptor alpha (CSF2RA), beta (CSF2RB) and IL-3 receptor alpha (IL3RA), the IL-specific receptor subunits for CSF2 and IL3, respectively, are associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "CSF2RB", "start": 124, "end": 130}], "disease": [{"text": "schizophrenia", "start": 251, "end": 264}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSF2RB", "start": 124, "end": 130}, "tail": {"text": "schizophrenia", "start": 251, "end": 264}}]}}, "schema": []}
{"input": "A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "neuronal nicotinic acetylcholine receptor alpha 4 subunit", "start": 27, "end": 84}], "disease": [{"text": "autosomal dominant nocturnal frontal lobe epilepsy", "start": 104, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "neuronal nicotinic acetylcholine receptor alpha 4 subunit", "start": 27, "end": 84}, "tail": {"text": "autosomal dominant nocturnal frontal lobe epilepsy", "start": 104, "end": 154}}]}}, "schema": []}
{"input": "Two GWASs on systolic blood pressure (SBP), diastolic blood pressure (DBP) and hypertension in Caucasians-Global Blood Pressure Genetics (Global BPgen) and Cohorts for Heart and Aging Research in Genome Epidemiology (CHARGE)-reported 51 single-nucleotide polymorphisms (SNPs) in 12 loci at P < 4 x 10 (-7).", "output": {"entities": {"gene": [{"text": "DBP", "start": 70, "end": 73}], "disease": [{"text": "systolic blood pressure", "start": 13, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "This study reports SOX10 loss-of-function mutations in approximately one-third of KS individuals with deafness, indicating a substantial involvement in this clinical condition.", "output": {"entities": {"gene": [{"text": "SOX10", "start": 19, "end": 24}], "disease": [{"text": "KS", "start": 82, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX10", "start": 19, "end": 24}, "tail": {"text": "KS", "start": 82, "end": 84}}]}}, "schema": []}
{"input": "We report a new amino acid substitution mutation in codon 155 of KRT1 (valine to aspartic acid) in the conserved H1 domain of the protein in the patient with BCIE.", "output": {"entities": {"gene": [{"text": "KRT1", "start": 65, "end": 69}], "disease": [{"text": "BCIE", "start": 158, "end": 162}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT1", "start": 65, "end": 69}, "tail": {"text": "BCIE", "start": 158, "end": 162}}]}}, "schema": []}
{"input": "Then, 32 CRC or hereditary nonpolyposis colorectal cancer (HNPCC) patients with family history and 20 cases of sporadic CRC were applied to investigate for the large fragment aberrations of MSH2 and MLH1 genes.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 190, "end": 194}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry studies on the skin lesions demonstrated that the infiltrating cells were of the CD3 (+)/CD8 (+) phenotype.", "output": {"entities": {"gene": [{"text": "CD8", "start": 110, "end": 113}], "disease": [{"text": "skin lesions", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Lung tumors were the predominant tumor type in urethane-treated mice regardless of p21 (Cip1) status.", "output": {"entities": {"gene": [{"text": "Cip1", "start": 88, "end": 92}], "disease": [{"text": "Lung tumors", "start": 0, "end": 11}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cip1", "start": 88, "end": 92}, "tail": {"text": "Lung tumors", "start": 0, "end": 11}}]}}, "schema": []}
{"input": "These results not only uncover Pin1 SUMOylation on Lys6/63 as a novel mechanism to inhibit its activity and function but also identify a critical role for SENP1-mediated deSUMOylation in promoting Pin1 function during tumorigenesis.", "output": {"entities": {"gene": [{"text": "SENP1", "start": 155, "end": 160}], "disease": [{"text": "tumorigenesis", "start": 218, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Introduction of CLIC4 or nuclear targeted CLIC4 via adenovirus into human breast cancer xenografts inhibited tumor growth, whereas overexpression of CLIC4 in stromal cells of xenografts enhanced tumor growth.", "output": {"entities": {"gene": [{"text": "CLIC4", "start": 16, "end": 21}], "disease": [{"text": "adenovirus", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The mutations of MLH1 and MSH2 have been reported to be responsible for malignant transformation and tumour progression in several sporadic tumours.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 26, "end": 30}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Among patients treated with clopidogrel for percutaneous coronary intervention, carriage of even 1 reduced-function CYP2C19 allele appears to be associated with a significantly increased risk of major adverse cardiovascular events, particularly stent thrombosis.", "output": {"entities": {"gene": [{"text": "CYP2C19", "start": 116, "end": 123}], "disease": [{"text": "thrombosis", "start": 251, "end": 261}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2C19", "start": 116, "end": 123}, "tail": {"text": "thrombosis", "start": 251, "end": 261}}]}}, "schema": []}
{"input": "Immune suppression in premalignant respiratory papillomas: enriched functional CD4 + Foxp3 + regulatory T cells and PD-1/PD-L1/L2 expression.", "output": {"entities": {"gene": [{"text": "PD-1", "start": 116, "end": 120}], "disease": [{"text": "respiratory papillomas", "start": 35, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS AND IMPLICATIONS: Overall, we found a novel sensory TRP acting metabolite and suggest that its use may help to elucidate the physiological role of TRPV4 in nociception and associated inflammation.", "output": {"entities": {"gene": [{"text": "TRP", "start": 64, "end": 67}], "disease": [{"text": "inflammation", "start": 195, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "This PER3 polymorphism differentially influences the effects of sleep deprivation on executive and non-executive function in the early morning.", "output": {"entities": {"gene": [{"text": "PER3", "start": 5, "end": 9}], "disease": [{"text": "sleep deprivation", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "These results suggested that DHA ameliorated pulmonary fibrosis induced by PQ might be attributed to its enhancement of Smad 7 and SnoN expression.", "output": {"entities": {"gene": [{"text": "Smad 7", "start": 120, "end": 126}], "disease": [{"text": "pulmonary fibrosis", "start": 45, "end": 63}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Smad 7", "start": 120, "end": 126}, "tail": {"text": "pulmonary fibrosis", "start": 45, "end": 63}}]}}, "schema": []}
{"input": "In early severe sepsis a gene expression pattern with induction of the pro-apoptotic Bcl-2 family members Bim, Bid and Bak and a downregulation of the anti-apoptotic Bcl-2 and Bcl-xl proteins was observed in peripheral blood.", "output": {"entities": {"gene": [{"text": "Bcl-xl", "start": 176, "end": 182}], "disease": [{"text": "severe sepsis", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "To assess the involvement of TIMP3 in a variety of other macular dystrophies, the authors have screened this gene for disease-causing mutations in age-related macular degeneration (AMD), adult vitelliform macular dystrophy (AVMD), central areolar choroidal dystrophy (CACD), syndrome-associated macular dystrophies, cone-rod dystrophy, and a group with unspecified macular degeneration.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 29, "end": 34}], "disease": [{"text": "cone-rod dystrophy", "start": 316, "end": 334}]}, "relations": {}}, "schema": []}
{"input": "The RNA-binding motif (RRM) gene on Y chromosome (RBMY), encoding a male germ cell-specific RNA-binding protein associated with spermatogenesis, was found inserted by hepatitis B virus (HBV) DNA in one childhood hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "RBMY", "start": 50, "end": 54}], "disease": [{"text": "childhood hepatocellular carcinoma", "start": 202, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 26, "end": 30}], "disease": [{"text": "Cowden disease", "start": 39, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 26, "end": 30}, "tail": {"text": "Cowden disease", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "We report the mutational analysis of the PTEN gene in one Italian CD kindred.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 41, "end": 45}], "disease": [{"text": "CD", "start": 66, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 41, "end": 45}, "tail": {"text": "CD", "start": 66, "end": 68}}]}}, "schema": []}
{"input": "We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor XIII (FXIII) V34L, β-fibrinogen b-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA-1) a/b, apolipoprotein B (ApoB) R3500Q, apolipoprotein E (ApoE), E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5, 10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a ViennaLab CVD strip assay.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 265, "end": 281}], "disease": [{"text": "fibrinogen", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Pemphigus vulgaris (PV) is a blistering disease of the skin and mucous membranes characterized by an autoantibody response against a keratinocyte adhesion molecule, desmoglein 3, causing acantholysis and blister formation.", "output": {"entities": {"gene": [{"text": "desmoglein 3", "start": 165, "end": 177}], "disease": [{"text": "acantholysis", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Results were correlated with clinicopathological features, therapeutic response, tumor regression grade (TRG), and metastasis-free survival (MeFS), as well as local recurrent-free survival (LRFS) and disease-specific survival (DSS).", "output": {"entities": {"gene": [{"text": "TRG", "start": 105, "end": 108}], "disease": [{"text": "metastasis", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We identified the ubiquitin-conjugating enzyme E2-EPF mRNA as differentially expressed in breast tumors relative to normal tissues and performed studies to elucidate its putative role in cancer.", "output": {"entities": {"gene": [{"text": "EPF", "start": 50, "end": 53}], "disease": [{"text": "breast tumors", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Significant higher expression (P < 0. 05) of Interferon-gamma, IL-12, IL-23 and GM-CSF were found in Inc-stimulated CD4 enriched cervical cells of CT-positive fertile women and contrastingly high IL-1 Beta, IL-4, IL-5, IL-6 and IL-10 levels were found in CT-positive infertile women.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 207, "end": 211}], "disease": [{"text": "infertile", "start": 267, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Expression of genes associated with adhesion and invasion including several integerins, matrix metalloproteinase (MMP)-3 and vascular endothelial growth factor (VEGF) were down-regulated in both MUC5AC suppressed cells.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 195, "end": 201}], "disease": [{"text": "adhesion", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Filamin C: a novel component of the KCNE2 interactome during hypoxia.", "output": {"entities": {"gene": [{"text": "Filamin C", "start": 0, "end": 9}], "disease": [{"text": "hypoxia", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Reduced S100A4 mRNA and protein expression, and inhibited cell migration, invasion, proliferation, and colony formation were observed in niclosamide-treated colon cancer cells in vitro.", "output": {"entities": {"gene": [{"text": "S100A4", "start": 8, "end": 14}], "disease": [{"text": "colon cancer", "start": 157, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A4", "start": 8, "end": 14}, "tail": {"text": "colon cancer", "start": 157, "end": 169}}]}}, "schema": []}
{"input": "Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 182, "end": 190}], "disease": [{"text": "sporadic", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The N88S seipin tg mice develop a progressive spastic motor deficit, reactive gliosis in the spinal cord and neurogenic muscular atrophy, recapitulating the symptomatic and pathological phenotype in patients of seipinopathy.", "output": {"entities": {"gene": [{"text": "seipin", "start": 9, "end": 15}], "disease": [{"text": "motor deficit", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Elevation of ZNF231 expression may be involved in the pathogenesis of multiple system atrophy.", "output": {"entities": {"gene": [{"text": "ZNF231", "start": 13, "end": 19}], "disease": [{"text": "multiple system atrophy", "start": 70, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, genetic alterations of the cyclin D1 and p16INK4A genes were not so frequent, but appeared to be associated with the aggressive behavior of the tumor, which suggests that disruption of the cell cycle-related genes results in the progression of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 263, "end": 266}], "disease": [{"text": "aggressive behavior", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The heterodimeric L-type amino acid transporter (LAT) 1/CD98hc is overexpressed in lung cancers with a poor prognosis factor.", "output": {"entities": {"gene": [{"text": "CD98hc", "start": 56, "end": 62}], "disease": [{"text": "lung cancers", "start": 83, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD98hc", "start": 56, "end": 62}, "tail": {"text": "lung cancers", "start": 83, "end": 95}}]}}, "schema": []}
{"input": "Two new mutations in the myophosphorylase gene in Italian patients with McArdle' s disease.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 25, "end": 41}], "disease": [{"text": "McArdle' s disease", "start": 72, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 25, "end": 41}, "tail": {"text": "McArdle' s disease", "start": 72, "end": 90}}]}}, "schema": []}
{"input": "The tumor suppressor PTEN (phosphatase and tensin homologue) negatively regulates the PI3K pathway through its lipid phosphatase activity and is one of the most commonly lost tumor suppressors in human cancers.", "output": {"entities": {"gene": [{"text": "tensin", "start": 43, "end": 49}], "disease": [{"text": "cancers", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "To determine which ABC transporter was expressed differently in patients with hepatic viral infection, we assayed the expression of MDR1, MDR3, MRP1, MRP2, and MRP3 in non-cancerous regions in the liver of 42 patients with hepatic tumors using both quantitative RT-PCR and immunological staining analysis, and compared the hepatic expression levels between patients with hepatitis viral infection and non-infected controls.", "output": {"entities": {"gene": [{"text": "MDR1", "start": 132, "end": 136}], "disease": [{"text": "viral infection", "start": 86, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The importance of RNA metabolism in disease was highlighted by the discovery of TDP-43 (TAR DNA-binding protein of 43 kDa), an RNA-binding protein (RBP), as a primary component of insoluble aggregates in patients with sporadic amyotrophic lateral sclerosis (ALS).", "output": {"entities": {"gene": [{"text": "RBP", "start": 148, "end": 151}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 227, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that expression of specific adipose tissue fatty-acid-handling proteins is related to obesity and insulin resistance, and that, in particular, FATP4 plays a role in acquired obesity.", "output": {"entities": {"gene": [{"text": "FATP4", "start": 167, "end": 172}], "disease": [{"text": "insulin resistance", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS.", "output": {"entities": {"gene": [{"text": "APC", "start": 128, "end": 131}], "disease": [{"text": "FAP", "start": 152, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APC", "start": 128, "end": 131}, "tail": {"text": "FAP", "start": 152, "end": 155}}]}}, "schema": []}
{"input": "We analyzed the distribution of catD and apolipoprotein E polymorphisms in Italian patients with sporadic and familial AD (FAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 123, "end": 126}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Both lipoma-like and myxoid components of the same MLSLC exhibited the identical FUS-DDIT3, as confirmed by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "FUS", "start": 81, "end": 84}], "disease": [{"text": "lipoma", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we found that NIPP1 could be activated by hypoxia and contributed to hypoxia-induced invasive and metastatic potential in HCC.", "output": {"entities": {"gene": [{"text": "NIPP1", "start": 29, "end": 34}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Analysis of these cell lines indicated that induction of Gab2WT expression, but not Gab2Tyr604Phe expression, led to Erk activation, growth arrest, cell spreading, and enlargement; expression of megakaryocyte/platelet lineage-specific integrins alphaIIb/beta3 (CD41/CD61); and upregulation of RNA for megakaryocyte/platelet proteins.", "output": {"entities": {"gene": [{"text": "beta3", "start": 254, "end": 259}], "disease": [{"text": "enlargement", "start": 168, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "APOBEC3A", "start": 29, "end": 37}], "disease": [{"text": "psychosis", "start": 165, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3A", "start": 29, "end": 37}, "tail": {"text": "psychosis", "start": 165, "end": 174}}]}}, "schema": []}
{"input": "A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.", "output": {"entities": {"gene": [{"text": "GTP cyclohydrolase I", "start": 30, "end": 50}], "disease": [{"text": "dopa responsive dystonia", "start": 108, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GTP cyclohydrolase I", "start": 30, "end": 50}, "tail": {"text": "dopa responsive dystonia", "start": 108, "end": 132}}]}}, "schema": []}
{"input": "Taken together, this study argues that p73 is not a target of genetic alteration in gastric carcinogenesis and suggests that overexpression of p73 might be triggered by physiological stresses accompanied with outgrowth of tumors, such as hypoxia or nutrient deprivation.", "output": {"entities": {"gene": [{"text": "p73", "start": 39, "end": 42}], "disease": [{"text": "hypoxia", "start": 238, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "NTE enzymatic activity was significantly reduced in fibroblast cells derived from individuals with Oliver-McFarlane syndrome.", "output": {"entities": {"gene": [{"text": "NTE", "start": 0, "end": 3}], "disease": [{"text": "Oliver-McFarlane syndrome", "start": 99, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTE", "start": 0, "end": 3}, "tail": {"text": "Oliver-McFarlane syndrome", "start": 99, "end": 124}}]}}, "schema": []}
{"input": "Next, we analyzed the relationship between ABCC11 gene expression and MTA sensitivity of 13 adenocarcinoma cells, but there was no correlation.", "output": {"entities": {"gene": [{"text": "ABCC11 gene", "start": 43, "end": 54}], "disease": [{"text": "adenocarcinoma", "start": 92, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We studied the genetic markers in human leukocyte antigen (HLA) region HLA-A,-B,-C,-DR,-DQ, C2, Bf, C4A, and C4B of 31 patients with erythema multiforme (EM) and their families.", "output": {"entities": {"gene": [{"text": "C4B", "start": 109, "end": 112}], "disease": [{"text": "erythema multiforme", "start": 133, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.", "output": {"entities": {"gene": [{"text": "SGCE", "start": 71, "end": 75}], "disease": [{"text": "Myoclonus-dystonia", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGCE", "start": 71, "end": 75}, "tail": {"text": "Myoclonus-dystonia", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "In particular, mutations in GRN account for 5-10% of all cases and give rise to a wide spectrum of clinical phenotypes, ranging from behavioral frontotemporal dementia (bvFTD) to primary progressive aphasia, including progressive non-fluent aphasia (PNFA) and semantic dementia, and corticobasal syndrome (CBS).", "output": {"entities": {"gene": [{"text": "CBS", "start": 306, "end": 309}], "disease": [{"text": "primary progressive aphasia", "start": 179, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "To characterize FOXF1 protein expression in colorectal cancer, designed tissue microarrays, comprising 50 cases of primary colorectal adenocarcinoma paired with matched adjacent normal tissue, were utilized in the immunohistochemistry (IHC) study.", "output": {"entities": {"gene": [{"text": "FOXF1", "start": 16, "end": 21}], "disease": [{"text": "colorectal adenocarcinoma", "start": 123, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that ARG2 and eNOS may work in a coordinated manner and the underlying mechanism might be of major significance for thyroid tumorigenesis and/or tumor progression pathways.", "output": {"entities": {"gene": [{"text": "ARG2", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.", "output": {"entities": {"gene": [{"text": "apolipoprotein-E", "start": 213, "end": 229}], "disease": [{"text": "lung tumor", "start": 123, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein-E", "start": 213, "end": 229}, "tail": {"text": "lung tumor", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "In contrast to normal liver, HCC xenografts showed high telomerase activity, resulting in tumor-restricted expression of E1A by a telomerase-dependent replicating adenovirus (hTERT-Ad).", "output": {"entities": {"gene": [{"text": "HCC", "start": 29, "end": 32}], "disease": [{"text": "adenovirus", "start": 163, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We detected MAML2 rearrangement using fluorescence in situ hybridization (FISH) in tissue samples from 42 cases of PMEC and 40 of adenosquamous carcinoma (ASC), and the expression of potential downstream targets of MECT1-MAML2, including HES1, FLT1 and NR4A2 with immunohistochemistry (IHC).", "output": {"entities": {"gene": [{"text": "FISH", "start": 74, "end": 78}], "disease": [{"text": "adenosquamous carcinoma", "start": 130, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Concurrent B-ALL with MPN is uncommon except in the presence of abnormalities of the PDGFRA, PDGFRB, or FGFR1 genes or the BCR-ABL1 fusion gene.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 85, "end": 91}], "disease": [{"text": "abnormalities", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Previously, we identified two Wnt signaling pathway-implicated genes, PPP3CA and MARK4, as having a role in more aggressive and potentially metastatic breast tumors.", "output": {"entities": {"gene": [{"text": "PPP3CA", "start": 70, "end": 76}], "disease": [{"text": "breast tumors", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The hNIS gene was transfected to human hepatocellular carcinoma SK-Hep1 cell lines using lipofectamine plus reagent.", "output": {"entities": {"gene": [{"text": "hNIS", "start": 4, "end": 8}], "disease": [{"text": "hepatocellular carcinoma", "start": 39, "end": 63}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hNIS", "start": 4, "end": 8}, "tail": {"text": "hepatocellular carcinoma", "start": 39, "end": 63}}]}}, "schema": []}
{"input": "WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p. Y198.", "output": {"entities": {"gene": [{"text": "WISP3", "start": 0, "end": 5}], "disease": [{"text": "progressive pseudorheumatoid dysplasia", "start": 60, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WISP3", "start": 0, "end": 5}, "tail": {"text": "progressive pseudorheumatoid dysplasia", "start": 60, "end": 98}}]}}, "schema": []}
{"input": "We investigated a range of molecular events including mutation frequency of K-ras, microsatellite instability within the coding region of TGF-beta RII, BAX, and IGF-IIR, loss of expression of p53, hMLH1, hMSH2, hMSH6, and PTEN, and methylation of hMLH1, hMSH2, and PTEN within a large population-based series of sporadic endometrial carcinomas to establish whether there are distinct differences between replication error repair (RER (+)) and RER (-) cases.", "output": {"entities": {"gene": [{"text": "p53", "start": 192, "end": 195}], "disease": [{"text": "sporadic", "start": 312, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to examine whether IL-4, a cytokine with anti-inflammatory activity, could modulate glomerular inflammation and reduce injury in vivo.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 45, "end": 49}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "These studies demonstrate that aberrant methylation of RAR-beta is an early and common alteration in murine lung tumors induced by several environmentally relevant exposures.", "output": {"entities": {"gene": [{"text": "RAR-beta", "start": 55, "end": 63}], "disease": [{"text": "lung tumors", "start": 108, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAR-beta", "start": 55, "end": 63}, "tail": {"text": "lung tumors", "start": 108, "end": 119}}]}}, "schema": []}
{"input": "This mutation results in an amino acid substitution at residue 397 of the FIX zymogen and the phenotypic display of hemophilia-B.", "output": {"entities": {"gene": [{"text": "FIX", "start": 74, "end": 77}], "disease": [{"text": "hemophilia-B", "start": 116, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIX", "start": 74, "end": 77}, "tail": {"text": "hemophilia-B", "start": 116, "end": 128}}]}}, "schema": []}
{"input": "Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.", "output": {"entities": {"gene": [{"text": "ARID2", "start": 19, "end": 24}], "disease": [{"text": "Coffin-Siris syndrome", "start": 74, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARID2", "start": 19, "end": 24}, "tail": {"text": "Coffin-Siris syndrome", "start": 74, "end": 95}}]}}, "schema": []}
{"input": "The microarray-based expression of QKI was evaluated in cortical and subcortical brain regions from suicide victims with a diagnosis of major depression (n = 16) and control subjects (n = 13).", "output": {"entities": {"gene": [{"text": "QKI", "start": 35, "end": 38}], "disease": [{"text": "major depression", "start": 136, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "QKI", "start": 35, "end": 38}, "tail": {"text": "major depression", "start": 136, "end": 152}}]}}, "schema": []}
{"input": "Secondary cell-based analysis demonstrated that stresscopin and FoxD3 are increased in neurons of DLPFC gray matter of MDD subjects.", "output": {"entities": {"gene": [{"text": "FoxD3", "start": 64, "end": 69}], "disease": [{"text": "MDD", "start": 119, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FoxD3", "start": 64, "end": 69}, "tail": {"text": "MDD", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "Using a leukemia cell line model, we show that TOP2 beta (TOP2B) is required for induction of RUNX1 chromosomal breaks by the TOP2 poison etoposide and that, while TOP2 alpha (TOP2A) and TOP2B proteins are both present on RUNX1 and RUNX1T1 chromatin, only the TOP2B enrichment reached significance following etoposide exposure at a region on RUNX1 where translocations occur.", "output": {"entities": {"gene": [{"text": "TOP2B", "start": 58, "end": 63}], "disease": [{"text": "chromosomal breaks", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Similarly lower levels of IGF-I, and high levels of IFN-gamma, are statistically significantly (P & lt; 0. 05) associated with higher DRS scores (more severe delirium).", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 26, "end": 31}], "disease": [{"text": "delirium", "start": 158, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-I", "start": 26, "end": 31}, "tail": {"text": "delirium", "start": 158, "end": 166}}]}}, "schema": []}
{"input": "Four splicing and four missense mutations were identified in 16 patients with BM, six of which are novel mutations in COL6A1.", "output": {"entities": {"gene": [{"text": "COL6A1", "start": 118, "end": 124}], "disease": [{"text": "BM", "start": 78, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL6A1", "start": 118, "end": 124}, "tail": {"text": "BM", "start": 78, "end": 80}}]}}, "schema": []}
{"input": "Phospho-DeltaNp63alpha/NF-Y protein complex transcriptionally regulates DDIT3 expression in squamous cell carcinoma cells upon cisplatin exposure.", "output": {"entities": {"gene": [{"text": "DDIT3", "start": 72, "end": 77}], "disease": [{"text": "squamous cell carcinoma", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Previously we found that particular genotypes and/or alleles of five single nucleotide polymorphisms (SNPs) located within OAS2 and OAS3 genes are associated with predisposition to severe forms of tick-borne encephalitis (TBE) in Russian population.", "output": {"entities": {"gene": [{"text": "OAS3", "start": 132, "end": 136}], "disease": [{"text": "tick-borne encephalitis", "start": 197, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate dehydrogenase subunit (SDHB and SDHD) mutations.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 284, "end": 288}], "disease": [{"text": "crest", "start": 30, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.", "output": {"entities": {"gene": [{"text": "N-ras", "start": 59, "end": 64}], "disease": [{"text": "chronic hepatitis", "start": 149, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking JunD (knockout [KO]) showed increased mortality and enhanced cardiomyocyte apoptosis and fibrosis associated with increased levels of hypoxia-induced factor-1alpha, vascular endothelial growth factor (VEGF), p53, and Bax protein and reduced levels of Bcl-2 protein after 7 days of severe pressure overload compared with wild-type (WT) siblings.", "output": {"entities": {"gene": [{"text": "JunD", "start": 13, "end": 17}], "disease": [{"text": "fibrosis", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "All families with POT1 mutations had affected members with oligodendroglioma, a specific subtype of glioma more sensitive to irradiation.", "output": {"entities": {"gene": [{"text": "POT1", "start": 18, "end": 22}], "disease": [{"text": "oligodendroglioma", "start": 59, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POT1", "start": 18, "end": 22}, "tail": {"text": "oligodendroglioma", "start": 59, "end": 76}}]}}, "schema": []}
{"input": "Although an extended analysis with a larger sample size or independent replication is required, these findings suggest a genetic association of EGR2 with BD.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 144, "end": 148}], "disease": [{"text": "BD", "start": 154, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGR2", "start": 144, "end": 148}, "tail": {"text": "BD", "start": 154, "end": 156}}]}}, "schema": []}
{"input": "As tumorigenesis in HNPCC is driven by deficient DNA mismatch repair (MMR), we compared its typical consequence, instability at microsatellite sequences, in colorectal and endometrial cancers from patients with identical predisposing mutations in the MMR genes MLH1 or MSH2.", "output": {"entities": {"gene": [{"text": "MMR", "start": 70, "end": 73}], "disease": [{"text": "tumorigenesis", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We identified three genes matching all of our selection criteria for a tumor-suppressor gene (period homolog 3 [PER3], insulin-like growth-factor-binding protein, acid labile subunit [IGFALS], and protein Z).", "output": {"entities": {"gene": [{"text": "IGFALS", "start": 184, "end": 190}], "disease": [{"text": "tumor", "start": 71, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that the dopamine-and cAMP-regulated phosphoprotein 32 kDa (DARPP-32), a key inhibitor of protein phosphate-1 (PP-1) that regulates CREB phosphorylation, is cleaved by activated calpain in both AD brains and neuronal cells treated with amyloid-β or okadaic acid, a protein phosphatase-2A inhibitor that induces tau hyperphosphorylation and neuronal death.", "output": {"entities": {"gene": [{"text": "CREB", "start": 146, "end": 150}], "disease": [{"text": "amyloid", "start": 250, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "The distinct regulation of PLA2G4C, PLA2G2D and ALOX15 genes in Aspergillus sensitization and/or cystic fibrosis could provide new insights into diagnosis and treatment of ABPA and CF.", "output": {"entities": {"gene": [{"text": "PLA2G2D", "start": 36, "end": 43}], "disease": [{"text": "cystic fibrosis", "start": 97, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Association of the Laminin, Alpha 5 (LAMA5) rs4925386 with height and longevity in an elderly population from Southern Italy.", "output": {"entities": {"gene": [{"text": "LAMA5", "start": 37, "end": 42}], "disease": [{"text": "height", "start": 59, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy.", "output": {"entities": {"gene": [{"text": "GRIN2B", "start": 14, "end": 20}], "disease": [{"text": "West syndrome", "start": 62, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GRIN2B", "start": 14, "end": 20}, "tail": {"text": "West syndrome", "start": 62, "end": 75}}]}}, "schema": []}
{"input": "Low frequencies of CD4 (+) CD146 (+) T cells are found in the circulation of healthy adults, but the frequency of these cells is significantly increased in the circulation of patients with inflammatory autoimmune diseases including Behcet' s, sarcoidosis and Crohn' s disease.", "output": {"entities": {"gene": [{"text": "CD4", "start": 19, "end": 22}], "disease": [{"text": "sarcoidosis", "start": 243, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Patients with FISH abnormalities in CD38 + cells showed a distinctive microRNA profile, characterized by the down-regulation of miR-125a-5p both in the CD38-and CD38 + populations.", "output": {"entities": {"gene": [{"text": "CD38", "start": 36, "end": 40}], "disease": [{"text": "abnormalities", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals.", "output": {"entities": {"gene": [{"text": "CEP83", "start": 44, "end": 49}], "disease": [{"text": "infantile nephronophthisis", "start": 102, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEP83", "start": 44, "end": 49}, "tail": {"text": "infantile nephronophthisis", "start": 102, "end": 128}}]}}, "schema": []}
{"input": "Infection with AdSLPI. E1AdB yielded E1A protein expression and adenovirus replication resulting in a > 100-fold increase of the virus titers only in SLPI-producing NSCLC cells (A549, H358, and HS24 cells).", "output": {"entities": {"gene": [{"text": "SLPI", "start": 17, "end": 21}], "disease": [{"text": "adenovirus", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "LECT2-knockout (KO) mice and NOD/SCID/IL2rgnull (NSG) mice were respectively used to investigate the effects of LECT2 on the tumorigenicity and metastasis of murine (Lewis lung carcinoma, LLC) and human (HCC827) lung cancer cells.", "output": {"entities": {"gene": [{"text": "LECT2", "start": 0, "end": 5}], "disease": [{"text": "lung cancer", "start": 212, "end": 223}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LECT2", "start": 0, "end": 5}, "tail": {"text": "lung cancer", "start": 212, "end": 223}}]}}, "schema": []}
{"input": "Although in adult nulliparous females, a single ThrbPV allele did not contribute to mammary gland abnormalities, the presence of two ThrbPV alleles led to mammary hyperplasia in ∼ 36% Thrb (PV/PV) mice.", "output": {"entities": {"gene": [{"text": "Thrb", "start": 48, "end": 52}], "disease": [{"text": "hyperplasia", "start": 163, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The mechanism of increased SLC activity in hyperlipidaemia is different from that in essential hypertension where increased sodium affinity is found.", "output": {"entities": {"gene": [{"text": "SLC", "start": 27, "end": 30}], "disease": [{"text": "hyperlipidaemia", "start": 43, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We performed RT-PCR to detect the expression of hTERT mRNA in 78 patients with HCC, 10 with liver cirrhosis (LC), 12 with chronic hepatitis (CH), and 34 healthy individuals without any liver diseases and cancers, and statistically analyzed the association with clinical parameters which include age, sex, etiology, Child classification, underlying liver disease, biochemical data, alpha-fetoprotein (alpha-AFP) number and size of tumor, and histological differentiation of HCC regarding HCC patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 79, "end": 82}], "disease": [{"text": "chronic hepatitis", "start": 122, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "During reperfusion, PCNA mRNA levels were up-regulated in the vulnerable CA1 subfield at 36 h following normothermic ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 73, "end": 76}], "disease": [{"text": "ischemia", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We found more frequent expression of CHEK2 in BRCA1 and BRCA2 tumors than in non-BRCA1/2 and sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 56, "end": 61}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Here, we focused on two terminal cell death effectors; caspase-activated DNase (CAD) and lysosomal enzyme DNase II, in the monkey CA1 sector undergoing 18 min ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 130, "end": 133}], "disease": [{"text": "ischemia", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Significantly, DNMT1-deficient cells demonstrated profound defects in these responses, including complete lack of gamma-H2AX induction and blunted p53 and CHK1 activation, while DNMT3B-deficient cells generally showed mild defects.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 15, "end": 20}], "disease": [{"text": "mild", "start": 218, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Over-expression and increased activity of cyclooxygenase (COX)-2 induced by smoking has been implicated in the development of cancer.", "output": {"entities": {"gene": [{"text": "COX", "start": 58, "end": 61}], "disease": [{"text": "smoking", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Plasma CD40L, CXCL5, CCL5 and EGF are mainly platelet-derived, suggesting a role of platelets in immune responses and inflammation.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 14, "end": 19}], "disease": [{"text": "inflammation", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Simvastatin inhibits NOR-1 expression induced by hyperlipemia by interfering with CREB activation.", "output": {"entities": {"gene": [{"text": "CREB", "start": 82, "end": 86}], "disease": [{"text": "hyperlipemia", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Utilizing a highly sensitive reverse transcription-polymerase chain reaction assay for HGV-RNA, we were unable to detect HGV-RNA within the livers of patients with cryptogenic cirrhosis or in the HCC arising within them.", "output": {"entities": {"gene": [{"text": "HCC", "start": 196, "end": 199}], "disease": [{"text": "cryptogenic cirrhosis", "start": 164, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, this is the first definitive case of pilocytic astrocytoma presenting as PDLG.", "output": {"entities": {"gene": [{"text": "PDLG", "start": 91, "end": 95}], "disease": [{"text": "pilocytic astrocytoma", "start": 55, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In addition, we show that hippocampal regions that are relatively free of AD neuropathology during early stages of the disease exhibit severely compromised PS2 mRNA levels even in mild AD cases.", "output": {"entities": {"gene": [{"text": "PS2", "start": 156, "end": 159}], "disease": [{"text": "mild", "start": 180, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "After exposure, hepatic inflammation (interleukin-6 [IL-6] mRNA and protein, tumor necrosis factor α [TNFα] mRNA and protein) and liver coagulant/anticoagulant factors (antithrombin [AT], fibrinogen [FIB] and Factor VIII [F VIII]) were evaluated.", "output": {"entities": {"gene": [{"text": "Factor VIII", "start": 209, "end": 220}], "disease": [{"text": "fibrinogen", "start": 188, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Nicotinamide mononucleotide adenylytransferase (NMNAT) is a neuroprotective factor that delays axon degeneration following injury and in models of neurodegenerative diseases suggesting a converging molecular pathway of axon self-destruction.", "output": {"entities": {"gene": [{"text": "NMNAT", "start": 48, "end": 53}], "disease": [{"text": "neurodegenerative diseases", "start": 147, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The parental cell line was cloned into 2 sublines, a P-type clone (SCMC-MM-1-19P) and a T-type clone (SCMC-MM-1-1T), which shared both 2q37 and 11p15 translocations, the characteristic chromosomal aberrations for rhabdomyosarcoma, with the parental SCMC-MM-1 cell line.", "output": {"entities": {"gene": [{"text": "MM-1", "start": 72, "end": 76}], "disease": [{"text": "rhabdomyosarcoma", "start": 213, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Cox proportional hazard models computed hazard ratio (HR) for death, adjusted for potential confounders, including p53, cyclin D1, KRAS, BRAF, PIK3CA, LINE-1 hypomethylation, CpG island methylator phenotype (CIMP), and microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 120, "end": 129}], "disease": [{"text": "microsatellite instability", "start": 219, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "By qRT-PCR, PLSCR4 and EMX2 were significantly down-regulated in the schizophrenia suicide completers, but could not be confirmed in bipolar disorder.", "output": {"entities": {"gene": [{"text": "PLSCR4", "start": 12, "end": 18}], "disease": [{"text": "schizophrenia", "start": 69, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLSCR4", "start": 12, "end": 18}, "tail": {"text": "schizophrenia", "start": 69, "end": 82}}]}}, "schema": []}
{"input": "Etanercept treatment of patients with active AS results in regression of spinal inflammation as assessed by spinal MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 115, "end": 118}], "disease": [{"text": "inflammation", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The average PPARGC1A methylation at four CpG sites situated 867-624 bp from the transcription start was associated with whole-body insulin sensitivity in a paradoxical positive manner (β = 0. 12, P = 0. 03), supported by a borderline significant inverse correlation with fasting insulin levels (β =-0. 88, P = 0. 06).", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 12, "end": 20}], "disease": [{"text": "insulin sensitivity", "start": 131, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Patients with esophageal atresia (EA) and tracheoesophageal fistula (TEF) often suffer chronic respiratory tract disease.", "output": {"entities": {"gene": [{"text": "TEF", "start": 69, "end": 72}], "disease": [{"text": "respiratory tract disease", "start": 95, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Western blotting revealed downregulated TRPV1 and PGC1α as well as upregulated UCP2 and activation of GSK3β, GATA4, and CREB in cold-stressed WT mouse hearts, which were obliterated by ETAKO.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 79, "end": 83}], "disease": [{"text": "cold", "start": 128, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The results indicated statistically significant lower protein and mRNA levels of the N-methyl-D-aspartate receptors, NR-1 and NR-3A, but significantly higher protein and mRNA levels of interleukin (IL)-1beta, the IL-1 receptor (IL-1R), myeloid differentiation factor 88, nuclear factor-kappa B subunits, and astroglial and microglial markers (glial fibrillary acidic protein, inducible nitric oxide synthase, c-fos and CD11b) in postmortem frontal cortex from BD compared with control subjects.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 419, "end": 424}], "disease": [{"text": "BD", "start": 460, "end": 462}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD11b", "start": 419, "end": 424}, "tail": {"text": "BD", "start": 460, "end": 462}}]}}, "schema": []}
{"input": "DN-Lats2 significantly attenuated induction of apoptosis and inhibition of hypertrophy by Mst1, indicating that Lats2 mediates the function of Mst1 in cardiac myocytes.", "output": {"entities": {"gene": [{"text": "Mst1", "start": 90, "end": 94}], "disease": [{"text": "hypertrophy", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "One-way analysis of variance (ANOVA) was performed between each genetic marker and 24-h systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as two-way ANOVAs to test the interaction effect with job strain.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 30, "end": 35}], "disease": [{"text": "diastolic blood pressure", "start": 122, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The molecular chaperone heat shock protein 90 (HSP90) is overexpressed in plaques of atherosclerosis patients, and is associated with plaque instability.", "output": {"entities": {"gene": [{"text": "HSP90", "start": 47, "end": 52}], "disease": [{"text": "plaque", "start": 74, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We found that human age-related nuclear cataract is not associated with LMNA gene mutations or truncation of lamin A.", "output": {"entities": {"gene": [{"text": "lamin A", "start": 109, "end": 116}], "disease": [{"text": "age-related nuclear cataract", "start": 20, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The levels of CR1, DAF, and CD59 on E were analyzed in 176 HD patients with DMN, 101 HD patients with non-diabetes mellitus renal diseases (non-DMN), and 108 healthy individuals.", "output": {"entities": {"gene": [{"text": "CR1", "start": 14, "end": 17}], "disease": [{"text": "renal diseases", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to evaluate the possible role of the IL-4 receptor alpha gene in modulating allergic response and asthma in the Japanese population.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 83, "end": 93}], "disease": [{"text": "allergic response", "start": 108, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the alpha-l-iduronidase A (IDUA) gene cause mucopolysaccharidosis type I (MPS I), a progressive multisystem disorder with features ranging over a continuum from mild to severe which is inherited in an autosomal recessive manner.", "output": {"entities": {"gene": [{"text": "IDUA", "start": 40, "end": 44}], "disease": [{"text": "mild", "start": 174, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "UBASH3B/Sts-1-CBL axis regulates myeloid proliferation in human preleukemia induced by AML1-ETO.", "output": {"entities": {"gene": [{"text": "ETO", "start": 92, "end": 95}], "disease": [{"text": "preleukemia", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical examination of human squamous cell carcinoma specimens revealed a prominent granular staining of heparanase within the nuclei of the epithelial tumor cells vs no nuclear staining in the adjacent stromal cells.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 117, "end": 127}], "disease": [{"text": "epithelial tumor", "start": 153, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "No interaction was detected between NAT2 and any exposure of interest, including smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 36, "end": 40}], "disease": [{"text": "smoking", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "An important regulatory mechanism of translational repression under hypoxic conditions involves inhibition of the mammalian target of rapamycin (mTOR).", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 114, "end": 143}], "disease": [{"text": "hypoxic", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Steady-state plasma glucose (SSPG) concentrations during the insulin suppression test, a reflection of the degree of insulin resistance, were also negatively correlated to adipose tissue LPL mRNA (rho =-0. 50, P < 0. 02) and activity (rho =-0. 56, P < 0. 01).", "output": {"entities": {"gene": [{"text": "LPL", "start": 187, "end": 190}], "disease": [{"text": "insulin resistance", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In asymptomatic family members, however, telomere length was not a reliable predictor for the presence or absence of a TERC or TERT gene mutation.", "output": {"entities": {"gene": [{"text": "TERC", "start": 119, "end": 123}], "disease": [{"text": "asymptomatic", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "We describe a family with a novel, inherited AXIN2 mutation (c. 1989G > A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.", "output": {"entities": {"gene": [{"text": "AXIN2", "start": 45, "end": 50}], "disease": [{"text": "sparse hair", "start": 253, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "It is the fourth reported mutation of the TGFBI gene associated with LCDI.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 42, "end": 47}], "disease": [{"text": "LCDI", "start": 69, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBI", "start": 42, "end": 47}, "tail": {"text": "LCDI", "start": 69, "end": 73}}]}}, "schema": []}
{"input": "Inactivation of the CDKL3 gene at 5q31. 1 by a balanced t (X; 5) translocation associated with nonspecific mild mental retardation.", "output": {"entities": {"gene": [{"text": "CDKL3 gene", "start": 20, "end": 30}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "REN-9,-10,-19, and-26 have a known association with human cancer.", "output": {"entities": {"gene": [{"text": "REN", "start": 0, "end": 3}], "disease": [{"text": "cancer", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Animals pre-treated with IL-1ra exhibited significant reduction of SE onset and of BBB damage.", "output": {"entities": {"gene": [{"text": "IL-1ra", "start": 25, "end": 31}], "disease": [{"text": "SE", "start": 67, "end": 69}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1ra", "start": 25, "end": 31}, "tail": {"text": "SE", "start": 67, "end": 69}}]}}, "schema": []}
{"input": "These data implicate MAL as a commonly altered gene in breast cancer with implications for response to chemotherapy.", "output": {"entities": {"gene": [{"text": "MAL", "start": 21, "end": 24}], "disease": [{"text": "breast cancer", "start": 55, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAL", "start": 21, "end": 24}, "tail": {"text": "breast cancer", "start": 55, "end": 68}}]}}, "schema": []}
{"input": "When overexpressed, SAG inhibits apoptosis induced by reactive oxygen species or hypoxia.", "output": {"entities": {"gene": [{"text": "SAG", "start": 20, "end": 23}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.", "output": {"entities": {"gene": [{"text": "ATL1", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Here, we conducted a case-control study in Tunisian women to examine the effect of genetic variation in HLA class II DRB1 and DQB1 genes on invasive cervical cancer (ICC) and squamous cell carcinoma (SCC).", "output": {"entities": {"gene": [{"text": "DRB1", "start": 117, "end": 121}], "disease": [{"text": "invasive cervical cancer", "start": 140, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In streptozotocin (STZ)-induced diabetic rats, mesangial and glomerular hypertrophy and an increase in the glomerular filtration rate (GFR) and albuminuria were observed after 12 weeks of STZ injection.", "output": {"entities": {"gene": [{"text": "GFR", "start": 135, "end": 138}], "disease": [{"text": "albuminuria", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "As HIF-1alpha is known to be stabilized by ERBB2 signaling under normoxic conditions, we propose that alpha5 integrin is a major effector in this regulatory circuit and may represent the molecular basis for the HIF-1alpha-dependent aggressiveness observed in ERBB2-overexpressing breast carcinomas.", "output": {"entities": {"gene": [{"text": "ERBB2", "start": 43, "end": 48}], "disease": [{"text": "aggressiveness", "start": 232, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "In addition, we conduct ROC analyses to detect the potential application of miR-143 and miR-215 in the diagnosis of chronic hepatitis and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 138, "end": 141}], "disease": [{"text": "chronic hepatitis", "start": 116, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Predisposing factors include achlorhydria, Helicobacter pylori infection, oxyntic atrophy and TFF2-expressing metaplasia.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 94, "end": 98}], "disease": [{"text": "atrophy", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "AGM posttreatment reduced cerebral infarct size and neurological deficit expression in diabetic rats subjected to MCAO.", "output": {"entities": {"gene": [{"text": "AGM", "start": 0, "end": 3}], "disease": [{"text": "neurological deficit", "start": 52, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "No significant correlation was identified between the expression of IMP3 and CK8/18 and the tumor grade in both BRCA-mutated and sporadic breast carcinomas (p > 0. 05).", "output": {"entities": {"gene": [{"text": "IMP3", "start": 68, "end": 72}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "However, using this large cohort of subjects, we were able to replicate the mild effects of 2 nonsynonymous SNPs, rs1613662 in GP6 and rs13146272 in CYP4V2, recently suspected to be associated with VTE.", "output": {"entities": {"gene": [{"text": "CYP4V2", "start": 149, "end": 155}], "disease": [{"text": "mild", "start": 76, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The ureteral stone group also had significantly lower erythrocyte glutathione peroxidase levels and glutathione reductase activity than the controls.", "output": {"entities": {"gene": [{"text": "glutathione reductase", "start": 100, "end": 121}], "disease": [{"text": "ureteral stone", "start": 4, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutathione reductase", "start": 100, "end": 121}, "tail": {"text": "ureteral stone", "start": 4, "end": 18}}]}}, "schema": []}
{"input": "Cytogenetic and molecular-genetic characteristics in peripheral T cell lymphoma (PTL) have not been well defined, except for those in adult T cell leukemia/lymphoma (ATL/L).", "output": {"entities": {"gene": [{"text": "PTL", "start": 81, "end": 84}], "disease": [{"text": "lymphoma", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Megf10 regulation of myoblast function appears to be mediated at least in part via interactions with key components of the Notch signaling pathway, and defects in these interactions may contribute to the pathogenesis of EMARDD.", "output": {"entities": {"gene": [{"text": "Megf10", "start": 0, "end": 6}], "disease": [{"text": "EMARDD", "start": 220, "end": 226}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Megf10", "start": 0, "end": 6}, "tail": {"text": "EMARDD", "start": 220, "end": 226}}]}}, "schema": []}
{"input": "We have previously shown that IKKs are aberrantly activated in colon cancer cells leading to SMRT phosphorylation and its release from the chromatin.", "output": {"entities": {"gene": [{"text": "SMRT", "start": 93, "end": 97}], "disease": [{"text": "colon cancer", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Mutations associated with abnormal LCAT activation are located within repeats 5, 6, and 7, corresponding to amino acids 121 to 186, while many of the mutations found in amyloid deposits are clustered at the amino terminus of the protein, namely residues 1 to 90.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 35, "end": 39}], "disease": [{"text": "amyloid deposits", "start": 169, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "To explore the relevance of XIAP, Smac/DIABLO, and XAF1 for carcinogenesis and tumor progression, we analyzed 46 primary gastric adenocarcinomas and non-neoplastic gastric mucosa samples by quantitative real-time polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 51, "end": 55}], "disease": [{"text": "non-neoplastic", "start": 149, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We studied whether variations in single nucleotide polymorphisms (SNPs) in the TNF, glutathione S transferase P1 (GSTP1) and beta2-adrenoreceptor (ADRB2) genes modify the effect of early maternal smoking on the development of childhood asthma, wheeze and allergic sensitization.", "output": {"entities": {"gene": [{"text": "TNF", "start": 79, "end": 82}], "disease": [{"text": "smoking", "start": 196, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Resting heart rate (HR), diastolic blood pressure (DBP), and systolic blood pressure (SBP) were examined before and after treatment.", "output": {"entities": {"gene": [{"text": "DBP", "start": 51, "end": 54}], "disease": [{"text": "systolic blood pressure", "start": 61, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma.", "output": {"entities": {"gene": [{"text": "ISL1", "start": 185, "end": 189}], "disease": [{"text": "neuroblastoma", "start": 326, "end": 339}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ISL1", "start": 185, "end": 189}, "tail": {"text": "neuroblastoma", "start": 326, "end": 339}}]}}, "schema": []}
{"input": "In order to determine whether their expression pattern changes in lymphoid tumors, we examined cyclin D2 and D3 expression in non-neoplastic and neoplastic lymphoid lesions, using a sensitive immunohistochemical amplification method.", "output": {"entities": {"gene": [{"text": "cyclin D2", "start": 95, "end": 104}], "disease": [{"text": "non-neoplastic", "start": 126, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "ErbB3 mRNA leukocyte levels as a biomarker for major depressive disorder.", "output": {"entities": {"gene": [{"text": "ErbB3", "start": 0, "end": 5}], "disease": [{"text": "major depressive disorder", "start": 47, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ErbB3", "start": 0, "end": 5}, "tail": {"text": "major depressive disorder", "start": 47, "end": 72}}]}}, "schema": []}
{"input": "The purpose of this study was to compare the imaging findings of nontuberculous mycobacterial (NTM) infection in patients with normal and abnormal cystic fibrosis (CF) genotypes, and normal and abnormal alpha1-antitrypsin (AAT) phenotypes.", "output": {"entities": {"gene": [{"text": "NTM", "start": 95, "end": 98}], "disease": [{"text": "cystic fibrosis", "start": 147, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "However, microsatellite alleles at a surrogate locus (Ighe) 12. 7 cM from chromogranin A (Chga), on rat chromosome 6, failed to co-segregate with blood pressure in an F2 generation (F = 0. 06, p = 0. 94).", "output": {"entities": {"gene": [{"text": "Ighe", "start": 54, "end": 58}], "disease": [{"text": "blood pressure", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "To normalize the levels of this protein, PhGPx was overexpressed in MIA PaCa-2 and AsPC-1 human pancreatic cancer cells by infection with an adenovirus-PhGPx L-form construct (AdPhGPx-L-form) (0-200 MOI) or with an adenovirus-PhGPx S-form construct (AdPhGPx-S-form) (0-200 MOI), and cell growth, plating efficiency, and growth in soft agar were determined.", "output": {"entities": {"gene": [{"text": "MIA", "start": 68, "end": 71}], "disease": [{"text": "adenovirus", "start": 141, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.", "output": {"entities": {"gene": [{"text": "MYH3", "start": 73, "end": 77}], "disease": [{"text": "Autosomal-Dominant Multiple Pterygium Syndrome", "start": 0, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH3", "start": 73, "end": 77}, "tail": {"text": "Autosomal-Dominant Multiple Pterygium Syndrome", "start": 0, "end": 46}}]}}, "schema": []}
{"input": "We also identified recurrent HBV integration events (in & #8805; 4 HCCs) that were validated by RNA sequencing (RNA-seq) and Sanger sequencing at the known and putative cancer-related TERT, MLL4 and CCNE1 genes, which showed upregulated gene expression in tumor versus normal tissue.", "output": {"entities": {"gene": [{"text": "CCNE1", "start": 199, "end": 204}], "disease": [{"text": "HCC", "start": 67, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNE1", "start": 199, "end": 204}, "tail": {"text": "HCC", "start": 67, "end": 70}}]}}, "schema": []}
{"input": "Instead, these data fit closely with an absence of selective pressures acting on BRCA2 and MRE11 gene status during tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 81, "end": 86}], "disease": [{"text": "tumorigenesis", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Three regions containing genes associated with renal cancer were identified: caspase 1/5/4/12 (CASP 1/5/4/12), epidermal growth factor receptor (EGFR), and insulin-like growth factor binding protein-3 (IGFBP3).", "output": {"entities": {"gene": [{"text": "CASP", "start": 95, "end": 99}], "disease": [{"text": "renal cancer", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "SPARC expression was correlated with leptin independent of fat mass and correlated with homeostasis model assessment-insulin resistance.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor receptor 3", "start": 30, "end": 65}], "disease": [{"text": "hypochondroplasia", "start": 97, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibroblast growth factor receptor 3", "start": 30, "end": 65}, "tail": {"text": "hypochondroplasia", "start": 97, "end": 114}}]}}, "schema": []}
{"input": "These results have important implications for our understanding of the role of Tbx2 in tumorigenesis because polyploidy frequently precedes aneuploidy, which is associated with high malignancy and poor prognosis.", "output": {"entities": {"gene": [{"text": "Tbx2", "start": 79, "end": 83}], "disease": [{"text": "aneuploidy", "start": 140, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "These data support the clinical utility of targeting specific nAChR subtypes for the alleviation of cocaine-abuse symptomatology.", "output": {"entities": {"gene": [{"text": "nAChR", "start": 62, "end": 67}], "disease": [{"text": "cocaine-abuse", "start": 100, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nAChR", "start": 62, "end": 67}, "tail": {"text": "cocaine-abuse", "start": 100, "end": 113}}]}}, "schema": []}
{"input": "BRCA1-and BRCA2-associated tumors have distinct histologic and molecular phenotypes, as compared to sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 10, "end": 15}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Together, these results suggest common genetic variation associated with reduced FREM3 expression may confer risk for a subtype of depression characterized by reduced reactivity to environmental stimuli and slower perceptual processing speed, possibly suggestive of accelerated aging.", "output": {"entities": {"gene": [{"text": "FREM3", "start": 81, "end": 86}], "disease": [{"text": "depression", "start": 131, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that viremia persists life-long lasting for more than a year, and that CD4 T cell levels display a continuous declining trend as seen in the human.", "output": {"entities": {"gene": [{"text": "CD4", "start": 90, "end": 93}], "disease": [{"text": "viremia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (Gly208Cys) near the active site of NFU1, an Fe/S scaffold protein, via an in vitro investigation into the structural and functional consequences.", "output": {"entities": {"gene": [{"text": "NFU1", "start": 159, "end": 163}], "disease": [{"text": "MMDS1", "start": 69, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NFU1", "start": 159, "end": 163}, "tail": {"text": "MMDS1", "start": 69, "end": 74}}]}}, "schema": []}
{"input": "With diet Type I and in the WT group, body mass index (BMI), weight, fat mass (FM), systolic blood pressure (SBP), diastolic blood pressure (DBP), glucose, insulin, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) concentrations decreased.", "output": {"entities": {"gene": [{"text": "DBP", "start": 141, "end": 144}], "disease": [{"text": "systolic blood pressure", "start": 84, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.", "output": {"entities": {"gene": [{"text": "OSGEP", "start": 42, "end": 47}], "disease": [{"text": "GAMOS", "start": 170, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OSGEP", "start": 42, "end": 47}, "tail": {"text": "GAMOS", "start": 170, "end": 175}}]}}, "schema": []}
{"input": "Retinol binding protein-4 (RBP4) has been reported to impair insulin sensitivity throughout the body.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 27, "end": 31}], "disease": [{"text": "insulin sensitivity", "start": 61, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "To analyse the expression of several mucins (MUC1, MUC2, MUC3, MUC5AC and MUC6), epidermal growth factor receptor (EGFR), v-erb-b2 erythroblastic leukaemia viral oncogene homologue 2 (HER2), thyroid transcription factor-1 (TTF-1), caudal type homeobox 2 (CDX2) and cytokeratin 20 (CK20), and the presence of mutations of EGFR, KRAS and HER2 in congenital pulmonary airway malformations (CPAM).", "output": {"entities": {"gene": [{"text": "MUC2", "start": 51, "end": 55}], "disease": [{"text": "leukaemia", "start": 146, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation.", "output": {"entities": {"gene": [{"text": "STRA6", "start": 22, "end": 27}], "disease": [{"text": "Matthew-Wood syndrome", "start": 122, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STRA6", "start": 22, "end": 27}, "tail": {"text": "Matthew-Wood syndrome", "start": 122, "end": 143}}]}}, "schema": []}
{"input": "We detected a statistically significant positive association between miR-30e ss178077483 and MDD (allelic P = 0. 0287; genotypic P = 0. 0275).", "output": {"entities": {"gene": [{"text": "miR-30e", "start": 69, "end": 76}], "disease": [{"text": "MDD", "start": 93, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-30e", "start": 69, "end": 76}, "tail": {"text": "MDD", "start": 93, "end": 96}}]}}, "schema": []}
{"input": "Stromal expression of CD10 (> 10% stromal positivity was considered positive) in invasive breast carcinoma was noted and was statistically analyzed with different known prognostic markers of breast carcinoma.", "output": {"entities": {"gene": [{"text": "CD10", "start": 22, "end": 26}], "disease": [{"text": "invasive breast carcinoma", "start": 81, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The association of radiographic hand osteoarthritis (RHOA) and osteoporosis related phenotypes (RHOP) with polymorphisms in IL-6 has been reported inconsistently.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 53, "end": 57}], "disease": [{"text": "hand osteoarthritis", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In prior studies, we observed PAO in the cardiomyocytes of many human heart failure samples.", "output": {"entities": {"gene": [{"text": "PAO", "start": 30, "end": 33}], "disease": [{"text": "heart failure", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that increased microbial translocation and dysregulated TLR expression/signaling, coupled with an elevated frequency of regulatory B cells, precede the diagnosis of AIDS-NHL in HIV-infected ART-treated patients.", "output": {"entities": {"gene": [{"text": "ART", "start": 211, "end": 214}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, comparison of laryngeal carcinoma patients on the basis of MIF tissue expression (high expression, LI ≥ 47, versus low expression, LI < 47) disclosed a significant difference between disease-free survival curves for local and nodal recurrence, and overall survival curve.", "output": {"entities": {"gene": [{"text": "MIF", "start": 74, "end": 77}], "disease": [{"text": "laryngeal carcinoma", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "In a large series of subjects carrying mutations in the LCAT gene, the inheritance of a mutated LCAT genotype causes a gene-dose-dependent alteration in the plasma lipid/lipoprotein profile, which is remarkably similar between subjects classified as FLD or FED.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 56, "end": 60}], "disease": [{"text": "FED", "start": 257, "end": 260}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 56, "end": 60}, "tail": {"text": "FED", "start": 257, "end": 260}}]}}, "schema": []}
{"input": "Interleukin-13 receptor A1 gene polymorphism and IL-13 serum level in atopic and non-atopic Egyptian children.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 49, "end": 54}], "disease": [{"text": "atopic", "start": 70, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "HPP is a rare metabolic bone disorder of bone mineralisation caused by mutations in the liver/bone/kidney alkaline phosphatase (ALPL) gene, which encodes tissue-non-specific alkaline phosphatase isoenzyme.", "output": {"entities": {"gene": [{"text": "HPP", "start": 0, "end": 3}], "disease": [{"text": "disorder of bone", "start": 29, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Time to leukemia (TTL) was determined for each patient sample engrafted as weeks from transplant to overt leukemia.", "output": {"entities": {"gene": [{"text": "TTL", "start": 18, "end": 21}], "disease": [{"text": "leukemia", "start": 8, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Lipoteichoic acid (LTA), a component of the cell wall of most gram-positive bacteria, has been shown to play a significant role in the initiation and progression of bacterial infection.", "output": {"entities": {"gene": [{"text": "LTA", "start": 19, "end": 22}], "disease": [{"text": "bacterial infection", "start": 165, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "BRCA2 tumours were significantly positive for PARP1 (non-cleaved) compared with sporadic tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In our study, we have determined the ATM mutation spectrum in 19 classical A-T patients, including some immigrant populations, as well as 12 of Dutch ethnic origin.", "output": {"entities": {"gene": [{"text": "ATM", "start": 37, "end": 40}], "disease": [{"text": "A-T", "start": 75, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 37, "end": 40}, "tail": {"text": "A-T", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "At the genome level, a pathognomonic EWSR1-ETS translocation is present.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 37, "end": 42}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of 60 sporadic meningiomas with a panel of eight microsatellite and two restriction fragment length polymorphism markers at the locations of BRCA1 and BRCA2 demonstrated no loss of heterozygosity.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 162, "end": 167}], "disease": [{"text": "sporadic", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "T cell recognition of Dsg3 was thus not only restricted by the pemphigus vulgaris associated DRbeta1 * 0402 allele, but also by several DR11 alleles, some of which are highly homologous to DRbeta1 * 0402, and by HLA-DQbeta1 * 0301.", "output": {"entities": {"gene": [{"text": "DR11", "start": 136, "end": 140}], "disease": [{"text": "pemphigus vulgaris", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.", "output": {"entities": {"gene": [{"text": "MTM1", "start": 41, "end": 45}], "disease": [{"text": "X-linked myotubular myopathy", "start": 84, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTM1", "start": 41, "end": 45}, "tail": {"text": "X-linked myotubular myopathy", "start": 84, "end": 112}}]}}, "schema": []}
{"input": "Genetic polymorphisms in several genes (TPH2, SLC6A4, HTR1A, HTR2A, COMT, and BDNF) were tested as predictors of relapse (defined as any drinking during follow-up) while controlling for baseline measures.", "output": {"entities": {"gene": [{"text": "HTR1A", "start": 54, "end": 59}], "disease": [{"text": "drinking", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The leukemia stem cell (LSC) hypothesis proposes that a subset of cells in the bulk leukemia population propagates the leukemia. We tested the LSC hypothesis in a mouse model of Notch-induced T-cell acute lymphoblastic leukemia (T-ALL) in which the tumor cells were largely CD4 + CD8 + T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 274, "end": 277}], "disease": [{"text": "leukemia", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that PIMT was downregulated at both gene and protein levels by DA-induced oxidative stresses in SH-SY5Y neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "PIMT", "start": 28, "end": 32}], "disease": [{"text": "neuroblastoma", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "RBP4 mRNA levels in adipose tissue and muscle of nondiabetic human subjects with either normal or impaired glucose tolerance (IGT) were studied, along with plasma RBP4.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 0, "end": 4}], "disease": [{"text": "impaired glucose tolerance", "start": 98, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Three polymorphisms (Tyr113His, His139Arg, and-613C/T) were analyzed by polymerase chain reaction (PCR) restriction fragment length polymorphisms (RFLPs) in 394 patients at different stages of disease, including 92 asymptomatic carriers, 109 patients with chronic hepatitis, 100 patients with cirrhosis, and 93 patients with HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 325, "end": 328}], "disease": [{"text": "chronic hepatitis", "start": 256, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "XRCC1 194Trp was associated with smoking in the CG group, while the variant alleles XRCC1 399Gln and XRCC3 241Met were related with gender, smoking, drinking and H pylori infection in the CG and GC groups.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 0, "end": 5}], "disease": [{"text": "smoking", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Both STX17 and the neighboring NR4A3 gene are overexpressed in melanomas from Gray horses.", "output": {"entities": {"gene": [{"text": "STX17", "start": 5, "end": 10}], "disease": [{"text": "melanomas", "start": 63, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STX17", "start": 5, "end": 10}, "tail": {"text": "melanomas", "start": 63, "end": 72}}]}}, "schema": []}
{"input": "Iontophoresis of U-II in healthy volunteers produces vasodilation (of the forearm) while in patients with heart failure or hypertension a constriction is observed.", "output": {"entities": {"gene": [{"text": "U-II", "start": 17, "end": 21}], "disease": [{"text": "constriction", "start": 138, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that a Toll-like receptor (TLR) protein, radioprotective 105 (RP105)/myeloid differentiation protein (MD)-1 complex, contributes to high-fat diet (HFD)-induced obesity, adipose tissue inflammation, and insulin resistance.", "output": {"entities": {"gene": [{"text": "RP105", "start": 76, "end": 81}], "disease": [{"text": "inflammation", "start": 198, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Finally, we found that liver Sort1 was repressed after BDL, which may be due to BA activation of farnesoid x receptor.", "output": {"entities": {"gene": [{"text": "Sort1", "start": 29, "end": 34}], "disease": [{"text": "liver", "start": 23, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sort1", "start": 29, "end": 34}, "tail": {"text": "liver", "start": 23, "end": 28}}]}}, "schema": []}
{"input": "In addition, the sequential dynamics of CD8 responses in 6 LTNPs showed that with a quick loss of CD4 T-cells around the range of 500 to 300 cells/mm (3), more vigorous CD8 responses were induced simultaneously, and plasma viremia was still kept relatively stable.", "output": {"entities": {"gene": [{"text": "CD4", "start": 98, "end": 101}], "disease": [{"text": "viremia", "start": 223, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of phosphorylated-ATF2 and STAT3 in cutaneous angiosarcoma and pyogenic granuloma.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 42, "end": 47}], "disease": [{"text": "pyogenic granuloma", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Disturbing the expression, transactivation or homo-/heterodimerization of the SOHLH2 protein could result in ovarian failure.", "output": {"entities": {"gene": [{"text": "SOHLH2", "start": 78, "end": 84}], "disease": [{"text": "ovarian failure", "start": 109, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In vitro studies have shown that colonocytes from chronically inflamed colon and cultured colon cancer cells are capable of expressing ICAM-1.", "output": {"entities": {"gene": [{"text": "ICAM-1", "start": 135, "end": 141}], "disease": [{"text": "colon cancer", "start": 90, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ICAM-1", "start": 135, "end": 141}, "tail": {"text": "colon cancer", "start": 90, "end": 102}}]}}, "schema": []}
{"input": "p53 at the crossroads between cancer and neurodegeneration.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "neurodegeneration", "start": 41, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Interferon gamma receptor 2 (IFN gamma R2) deficiency is an exceedingly rare primary immunodeficiency, conferring almost selective predisposition to mycobacterial diseases.", "output": {"entities": {"gene": [{"text": "IFN", "start": 29, "end": 32}], "disease": [{"text": "primary immunodeficiency", "start": 77, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis using dissociation electrophoretic mobility shift and yeast two-hybrid assays showed reduced binding affinity to the GATA motifs but normal interaction with FOG in vitro.", "output": {"entities": {"gene": [{"text": "GATA", "start": 137, "end": 141}], "disease": [{"text": "dissociation", "start": 26, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 15, "end": 19}], "disease": [{"text": "MFS", "start": 122, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 15, "end": 19}, "tail": {"text": "MFS", "start": 122, "end": 125}}]}}, "schema": []}
{"input": "Therefore, OPN expression by lesion-associated macrophages may contribute to the nonpermissive nature of the adult CNS preventing axonal regeneration following injury.", "output": {"entities": {"gene": [{"text": "OPN", "start": 11, "end": 14}], "disease": [{"text": "axonal regeneration", "start": 130, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "VWF", "start": 275, "end": 278}], "disease": [{"text": "blood pressure", "start": 315, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined the expression of OPG in gastric carcinomas using immunohistochemistry and reverse-transcription polymerase chain reaction methods, and compared with clinicopathological parameters.", "output": {"entities": {"gene": [{"text": "OPG", "start": 52, "end": 55}], "disease": [{"text": "carcinomas", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The expression of IL-25, IL-17RA and IL-17RB on eosinophils, and levels of plasma IL-25 were measured in 14 normal control subjects, 15 atopic nonasthmatics and 14 mild allergic asthmatics.", "output": {"entities": {"gene": [{"text": "IL-17RA", "start": 25, "end": 32}], "disease": [{"text": "atopic", "start": 136, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In tumor xenografts established by p53-mutated HCC cells, adenovirus encoding p53-PTM induced cell cycle arrest and apoptosis and then blocked the growth of tumors in mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 47, "end": 50}], "disease": [{"text": "adenovirus", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the biological effects of LMP1 and the significance of its restricted expression in EBV-associated gastric carcinomas, the LMP1 gene was transferred into EBV-negative gastric carcinoma cell lines (SCM1 and TMC1) and into EBV-negative nasopharyngeal carcinoma (NPC) cells (HONE-1) as a control.", "output": {"entities": {"gene": [{"text": "TMC1", "start": 219, "end": 223}], "disease": [{"text": "carcinomas", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "A total of 227 individuals with viral hepatitis, 53 cirrhotic and 174 non-cirrhotic, were genotyped for the XRCC1 rs25487 polymorphism using PCR-RFLP.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 108, "end": 113}], "disease": [{"text": "viral hepatitis", "start": 32, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that specific downregulation of PS2 expression is as severe in subjects with mild AD as it is in subjects in late stages of the disease.", "output": {"entities": {"gene": [{"text": "PS2", "start": 47, "end": 50}], "disease": [{"text": "mild", "start": 92, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Atherosclerotic lesions showed a marked expression of pentraxin 3 on the surface of lumen and in the plaque.", "output": {"entities": {"gene": [{"text": "pentraxin 3", "start": 54, "end": 65}], "disease": [{"text": "plaque", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We conclude that heterozygous p. Leu68Phe ADRA2A mutation causes a rare atypical FPLD, most likely by inducing excessive lipolysis in some adipose tissue depots.", "output": {"entities": {"gene": [{"text": "ADRA2A", "start": 42, "end": 48}], "disease": [{"text": "FPLD", "start": 81, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRA2A", "start": 42, "end": 48}, "tail": {"text": "FPLD", "start": 81, "end": 85}}]}}, "schema": []}
{"input": "Meta-regression demonstrated a larger difference between GHR (d3) and GHR (wt-wt) in studies using lower rhGH doses and carried out at a higher age, independently of the cause of short stature.", "output": {"entities": {"gene": [{"text": "GHR", "start": 57, "end": 60}], "disease": [{"text": "regression", "start": 5, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "AIM: To establish if PTCH1a transcriptional regulation region (TRR) is methylated in gastric cancer and its influence in gastric tumorigenesis.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "IL-8 and G-CSF levels in BAL fluid correlate only with the percentage and the absolute number of neutrophils of the BAL fluid in patients with PF (p = 0. 02/p = 0. 01; p = 0. 01/p = 0. 01; respectively).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 0, "end": 4}], "disease": [{"text": "PF", "start": 143, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-8", "start": 0, "end": 4}, "tail": {"text": "PF", "start": 143, "end": 145}}]}}, "schema": []}
{"input": "Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.", "output": {"entities": {"gene": [{"text": "GNAI2", "start": 92, "end": 97}], "disease": [{"text": "breast cancer", "start": 256, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNAI2", "start": 92, "end": 97}, "tail": {"text": "breast cancer", "start": 256, "end": 269}}]}}, "schema": []}
{"input": "Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.", "output": {"entities": {"gene": [{"text": "FAM83G", "start": 22, "end": 28}], "disease": [{"text": "Palmoplantar Keratoderma", "start": 45, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAM83G", "start": 22, "end": 28}, "tail": {"text": "Palmoplantar Keratoderma", "start": 45, "end": 69}}]}}, "schema": []}
{"input": "We genotyped the Int8 and 3' UTR variable number of tandem repeats of the dopamine transporter gene (DAT1/SLC6A3), the TaqIA (rs1800497) and TaqIB (rs1079597) SNP polymorphisms within the dopamine receptor D2 gene and the 19-bp insertion/deletion and c. 444G > A (rs1108580) polymorphisms of the dopamine β-hydroxylase gene (DBH) in a Spanish sample of 169 patients with cocaine addiction and 169 sex-matched controls.", "output": {"entities": {"gene": [{"text": "Int8", "start": 17, "end": 21}], "disease": [{"text": "cocaine addiction", "start": 371, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "Our findings showed a wide phenotypic spectrum ranging from asymptomatic females with an HCCS mutation to patients with a neonatal lethal MLS form.", "output": {"entities": {"gene": [{"text": "HCCS", "start": 89, "end": 93}], "disease": [{"text": "asymptomatic", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to test the hypothesis that elevated plasma leptin and insulin levels as well as systolic blood pressure (SBP) and diastolic blood pressure (DBP) and increased resting HR preexist in the healthy offspring of patients with EH.", "output": {"entities": {"gene": [{"text": "DBP", "start": 166, "end": 169}], "disease": [{"text": "systolic blood pressure", "start": 106, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "T helper subtype 2 cytokines, such as interleukin (IL)-4 and IL-13, may have an important role in the development of atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 61, "end": 66}], "disease": [{"text": "atopy", "start": 117, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Advanced fibrosis/cirrhosis in the peritumoral liver was the only clinicopathological factor associated with the 6p21. 1 amplicon in HCC/MS.", "output": {"entities": {"gene": [{"text": "HCC", "start": 133, "end": 136}], "disease": [{"text": "fibrosis", "start": 9, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Nerve growth factor serum concentrations increase during many inflammatory and autoimmune diseases, glomerulonephritis, chronic kidney disease, end-stage renal disease and, particularly, in renal transplant.", "output": {"entities": {"gene": [{"text": "Nerve growth factor", "start": 0, "end": 19}], "disease": [{"text": "glomerulonephritis", "start": 100, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nerve growth factor", "start": 0, "end": 19}, "tail": {"text": "glomerulonephritis", "start": 100, "end": 118}}]}}, "schema": []}
{"input": "Compound 2 blocked HSV-1-induced activation of NF-kappaB by inhibiting its translocation to the nucleus of infected corneal and conjunctival cells in vitro, as well as significantly reduced the secretion of TNF-alpha in infected NHC cells.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 207, "end": 216}], "disease": [{"text": "translocation", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In summary, we describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in CAST.", "output": {"entities": {"gene": [{"text": "CAST", "start": 134, "end": 138}], "disease": [{"text": "PLACK", "start": 24, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CAST", "start": 134, "end": 138}, "tail": {"text": "PLACK", "start": 24, "end": 29}}]}}, "schema": []}
{"input": "Collectively, these data suggest epigenetic inactivation of the SDHC gene locus with functional impairment of the SDH complex as a plausible alternate mechanism of tumorigenesis in CT.", "output": {"entities": {"gene": [{"text": "SDHC gene", "start": 64, "end": 73}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Moreover, JunD (-/-) mice were protected from bleomycin-induced fibrosis with reduced dermal thickening, decreased myofibroblast counts and lower collagen content of lesional skin.", "output": {"entities": {"gene": [{"text": "JunD", "start": 10, "end": 14}], "disease": [{"text": "fibrosis", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Here we tested the potential of Hsp70 (approved gene symbol HSPA1A) for gene therapy in the 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP) mouse model of idiopathic PD.", "output": {"entities": {"gene": [{"text": "HSPA1A", "start": 60, "end": 66}], "disease": [{"text": "PD", "start": 173, "end": 175}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HSPA1A", "start": 60, "end": 66}, "tail": {"text": "PD", "start": 173, "end": 175}}]}}, "schema": []}
{"input": "By contrast, none of the polymorphisms in MMP1, MMP2, MMP3, MMP9, or MMP10 was significantly associated with either acute MI compared with angina, or with coronary disease compared with controls.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 48, "end": 52}], "disease": [{"text": "angina", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Using parametric multipoint linkage analysis and whole exome sequencing, we have identified a gene responsible for microcephaly (MCP), severe visual impairment, intellectual disability, and short stature through the mapping of a homozygous nonsense alteration in a multiply-affected consanguineous family.", "output": {"entities": {"gene": [{"text": "MCP", "start": 129, "end": 132}], "disease": [{"text": "short stature", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature, and short and bowed legs, and is caused by mutations in PAPSS2.", "output": {"entities": {"gene": [{"text": "SEMD", "start": 34, "end": 38}], "disease": [{"text": "mild", "start": 146, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "PwCPs formed a monophyletic clade into cathepsin F and showed differential expression patterns along with developmental stages of worm.", "output": {"entities": {"gene": [{"text": "cathepsin F", "start": 39, "end": 50}], "disease": [{"text": "worm", "start": 130, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Mutations in ECEL1 cause distal arthrogryposis type 5D.", "output": {"entities": {"gene": [{"text": "ECEL1", "start": 13, "end": 18}], "disease": [{"text": "distal arthrogryposis type 5D", "start": 25, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ECEL1", "start": 13, "end": 18}, "tail": {"text": "distal arthrogryposis type 5D", "start": 25, "end": 54}}]}}, "schema": []}
{"input": "The authors assessed the linkage between this gene and schizophrenia spectrum disorders by using polymorphic dopamine transporter gene markers in 156 subjects from 16 multiplex pedigrees with schizophrenia as well as schizophreniform, schizoaffective, and schizotypal disorders and mood-incongruent psychotic depression.", "output": {"entities": {"gene": [{"text": "dopamine transporter", "start": 109, "end": 129}], "disease": [{"text": "psychotic depression", "start": 299, "end": 319}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dopamine transporter", "start": 109, "end": 129}, "tail": {"text": "psychotic depression", "start": 299, "end": 319}}]}}, "schema": []}
{"input": "In addition, we found that in a transient forebrain ischemia model, PEP-1-PRX2 inhibited the activation of astrocytes and microglia in the CA1 region of the hippocampus and lipid peroxidation and also prevented neuronal cell death against ischemic damage.", "output": {"entities": {"gene": [{"text": "CA1", "start": 139, "end": 142}], "disease": [{"text": "ischemia", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We first analyzed methylation of the RASSF2 and SFRP2 gene promoters from 788 primary gastric and colorectal tissue specimens to determine whether methylation patterns could act as stage-dependent biomarkers of gastrointestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "SFRP2 gene", "start": 48, "end": 58}], "disease": [{"text": "tumorigenesis", "start": 228, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "To study endocrine gland-derived vascular endothelial growth factor (EG-VEGF), prokineticin receptor (PROKR) 1, and PROKR2 variants in the coding regions of idiopathic recurrent miscarriage (RM) patients and further evaluate gene-gene interactions of these three genes.", "output": {"entities": {"gene": [{"text": "PROKR2", "start": 116, "end": 122}], "disease": [{"text": "recurrent miscarriage", "start": 168, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Sixty-two colorectal polyps--37 adenomatous polyps, 23 hyperplastic polyps, and 2 sessile serrated polyps (SSP)--from 34 subjects with germline MMR gene mutations were tested for MSI using a single pentaplex PCR for five mononucleotide repeat microsatellite markers, and also for expression of MLH1, MSH2, MSH6, and PMS2 proteins by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "PMS2", "start": 316, "end": 320}], "disease": [{"text": "polyps", "start": 21, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "High-resolution array Comparative Genomic Hybridisation profiling of 53 familial (21 BRCA1, 6 BRCA2 and 26 non-BRCA1/2) and 15 sporadic tumours in combination with supervised and unsupervised analysis was used to define common and/or specific copy number features.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 94, "end": 99}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that FSH gene variants showed no difference in distribution between fertile or infertile OAT men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 105, "end": 108}], "disease": [{"text": "infertile", "start": 95, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Genetic polymorphisms of inflammatory response gene TNF-α and its influence on sporadic pancreatic neuroendocrine tumors predisposition risk.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 52, "end": 57}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Recently, the KATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM 239850) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly).", "output": {"entities": {"gene": [{"text": "MIM", "start": 154, "end": 157}], "disease": [{"text": "hypertrichotic osteochondrodysplasia", "start": 116, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "These data are, to our knowledge, the first to describe the loss of p130 as a consequence of a genetic alteration, suggesting that not only pRB but also the other members of the family may contribute to tumorigenesis, providing a rationale for the observation that the DNA tumor viruses selectively target all the members of the retinoblastoma protein family.", "output": {"entities": {"gene": [{"text": "p130", "start": 68, "end": 72}], "disease": [{"text": "tumorigenesis", "start": 203, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Putting these findings in the context of other work in this field, we conclude that subjects with leprechaunism or Rabson-Mendenhall syndrome have a high probability of having a missense or nonsense insulin receptor mutation.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 199, "end": 215}], "disease": [{"text": "Rabson-Mendenhall syndrome", "start": 115, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 199, "end": 215}, "tail": {"text": "Rabson-Mendenhall syndrome", "start": 115, "end": 141}}]}}, "schema": []}
{"input": "In addition, NECs from smokers cultured alone had increased influenza-induced concentrations of the Th2 chemokine thymus and activation-regulated chemokine (TARC).", "output": {"entities": {"gene": [{"text": "TARC", "start": 157, "end": 161}], "disease": [{"text": "influenza", "start": 60, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 118, "end": 127}], "disease": [{"text": "bullous congenital ichthyosiform erythroderma", "start": 20, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 118, "end": 127}, "tail": {"text": "bullous congenital ichthyosiform erythroderma", "start": 20, "end": 65}}]}}, "schema": []}
{"input": "CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 0, "end": 11}], "disease": [{"text": "X-linked hyper-IgM syndrome", "start": 41, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD40 ligand", "start": 0, "end": 11}, "tail": {"text": "X-linked hyper-IgM syndrome", "start": 41, "end": 68}}]}}, "schema": []}
{"input": "The expression of LSD1 which mainly located in nuclei of cancer cells significantly increased in bone marrows of bone cancer pain rats from 14 d to 21 d after inoculation.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 18, "end": 22}], "disease": [{"text": "bone cancer", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate the responsibility of human & lt; i & gt; NLRP1 & lt;/i & gt; in a novel autoinflammatory disorder that we propose to call NAIAD for & lt; i & gt; NLRP1-& lt;/i & gt; associated autoinflammation with arthritis and dyskeratosis.", "output": {"entities": {"gene": [{"text": "NLRP1", "start": 57, "end": 62}], "disease": [{"text": "autoinflammation with arthritis and dyskeratosis", "start": 193, "end": 241}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NLRP1", "start": 57, "end": 62}, "tail": {"text": "autoinflammation with arthritis and dyskeratosis", "start": 193, "end": 241}}]}}, "schema": []}
{"input": "Those tested positive for the latter were evaluated for conventional thrombophilic factors, activity levels of protein C and protein S, antithrombin III levels, plasma homocysteine levels and presence of activated protein C resistance, lupus anticoagulant, methylenetetrahydrofolate reductase (MTHFR C677T) and prothrombin G20210A polymorphisms.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 294, "end": 299}], "disease": [{"text": "lupus anticoagulant", "start": 236, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "In particular, 14 epidemiologic studies have tended to show positive associations with long-term smoking among NAT2 slow acetylators, especially among postmenopausal women.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 111, "end": 115}], "disease": [{"text": "smoking", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis, we examined protein expression of excitatory amino acid transporter 1-3 and vesicular glutamate transporter 1 and 2 in subjects with schizophrenia (n = 23) and a comparison group (n = 27).", "output": {"entities": {"gene": [{"text": "vesicular glutamate transporter 1", "start": 101, "end": 134}], "disease": [{"text": "schizophrenia", "start": 158, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vesicular glutamate transporter 1", "start": 101, "end": 134}, "tail": {"text": "schizophrenia", "start": 158, "end": 171}}]}}, "schema": []}
{"input": "Both FRA-1 and PBX1 are required for the mesenchymal changes triggered by PREP1 in lung tumor cells.", "output": {"entities": {"gene": [{"text": "PBX1", "start": 15, "end": 19}], "disease": [{"text": "lung tumor", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "It is not known whether recombinant human erythropoietin has a direct, clinically apparent pressor effect in hemodialysis patients or whether hypertension developing or aggravated in these patients merely reflects increased hematocrit.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 42, "end": 56}], "disease": [{"text": "hypertension", "start": 142, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "erythropoietin", "start": 42, "end": 56}, "tail": {"text": "hypertension", "start": 142, "end": 154}}]}}, "schema": []}
{"input": "Analysis of BAL fluid and histology show that pulmonary fibrosis is unaltered, but Fgf2 (-/-) mice fail to efficiently resolve inflammation, have increased BAL cellularity, and, importantly, deficient recovery of epithelial integrity.", "output": {"entities": {"gene": [{"text": "Fgf2", "start": 83, "end": 87}], "disease": [{"text": "inflammation", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The inv (11) (p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts.", "output": {"entities": {"gene": [{"text": "DDX10", "start": 92, "end": 97}], "disease": [{"text": "chromosome translocation", "start": 22, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscle involvement.", "output": {"entities": {"gene": [{"text": "plectin", "start": 19, "end": 26}], "disease": [{"text": "LGMD2Q", "start": 111, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "plectin", "start": 19, "end": 26}, "tail": {"text": "LGMD2Q", "start": 111, "end": 117}}]}}, "schema": []}
{"input": "We have in this study analyzed T-cell receptor (TCR) variable region (V) gene usage by CD4 + and CD8 + lung and peripheral blood T cells of 29 sarcoidosis patients and 15 control subjects.", "output": {"entities": {"gene": [{"text": "CD4", "start": 87, "end": 90}], "disease": [{"text": "sarcoidosis", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin.", "output": {"entities": {"gene": [{"text": "sorcin", "start": 118, "end": 124}], "disease": [{"text": "malignant glioma", "start": 43, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Anyway, this preliminary retrospective analysis does not support the hypothesis that the investigated AR polymorphism has a major modifying effect on adiponectin or resistin serum levels in patients with alcoholism.", "output": {"entities": {"gene": [{"text": "AR", "start": 102, "end": 104}], "disease": [{"text": "alcoholism", "start": 204, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AR", "start": 102, "end": 104}, "tail": {"text": "alcoholism", "start": 204, "end": 214}}]}}, "schema": []}
{"input": "In analyses of gastric cancer cell lines, human tissue samples, and mouse models, we found AURKA to be up-regulated during chronic inflammation to promote activation of NF-κB and tumorigenesis.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 91, "end": 96}], "disease": [{"text": "tumorigenesis", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Major gene families implicated in malignancy by over-expression in carcinomas included the annexins (annexin A1 and A4) and Stat family of transcription factors (Stat3 and Stat5a).", "output": {"entities": {"gene": [{"text": "Stat3", "start": 162, "end": 167}], "disease": [{"text": "carcinomas", "start": 67, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Stat3", "start": 162, "end": 167}, "tail": {"text": "carcinomas", "start": 67, "end": 77}}]}}, "schema": []}
{"input": "Molecular screening of the microsomal triglyceride transfer protein: association between polymorphisms and both abdominal obesity and plasma apolipoprotein B concentration.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 141, "end": 157}], "disease": [{"text": "abdominal obesity", "start": 112, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "ACTG2 encodes & #947; 2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease.", "output": {"entities": {"gene": [{"text": "ACTG2", "start": 0, "end": 5}], "disease": [{"text": "MMIHS", "start": 90, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTG2", "start": 0, "end": 5}, "tail": {"text": "MMIHS", "start": 90, "end": 95}}]}}, "schema": []}
{"input": "Our findings show that proinflammatory cytokines stimulate the biliary epithelium to generate NO, via NOS2 induction, and that NO causes ductular cholestasis by a RNOS-mediated inhibition of AC and of cAMP-dependent HCO (3) (-) and Cl (-) secretory mechanisms.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 102, "end": 106}], "disease": [{"text": "cholestasis", "start": 146, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2", "start": 102, "end": 106}, "tail": {"text": "cholestasis", "start": 146, "end": 157}}]}}, "schema": []}
{"input": "Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.", "output": {"entities": {"gene": [{"text": "TTC7A", "start": 164, "end": 169}], "disease": [{"text": "multiple intestinal atresia", "start": 53, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTC7A", "start": 164, "end": 169}, "tail": {"text": "multiple intestinal atresia", "start": 53, "end": 80}}]}}, "schema": []}
{"input": "Subsequent investigation revealed that T lymphoma invasion and metastasis 1 (TIAM1) was a direct and functional target of miR-377 in HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 133, "end": 136}], "disease": [{"text": "lymphoma", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Heme oxygenase-1 protects rat liver against warm ischemia/reperfusion injury via TLR2/TLR4-triggered signaling pathways.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 86, "end": 90}], "disease": [{"text": "ischemia/reperfusion injury", "start": 49, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR4", "start": 86, "end": 90}, "tail": {"text": "ischemia/reperfusion injury", "start": 49, "end": 76}}]}}, "schema": []}
{"input": "The most common EZN-4176-related toxicities (all grades) were fatigue (59%), reversible abnormalities in liver function tests ALT (41%) and AST (41%) and infusion-related reactions including chills (36%) and pyrexia (14%).", "output": {"entities": {"gene": [{"text": "AST", "start": 140, "end": 143}], "disease": [{"text": "chills", "start": 191, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Abnormalities of p51, p53, FLT3 and N-ras genes and their prognostic value in relapsed acute myeloid leukemia.", "output": {"entities": {"gene": [{"text": "p51", "start": 17, "end": 20}], "disease": [{"text": "acute myeloid leukemia", "start": 87, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In this study 12 patients with FAD (M age = 49. 61 years, SD = 4. 99), 10 patients with sporadic Alzheimer' s disease (SAD) (M age = 71. 40, SD = 10. 00), and 15 matched normal controls (M age = 45. 01, SD = 7. 24) were selected.", "output": {"entities": {"gene": [{"text": "FAD", "start": 31, "end": 34}], "disease": [{"text": "sporadic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The role of the NF2 gene in the development of meningiomas has recently been documented; inactivating mutations plus allelic loss at 22q, the site of this gene (at 22q12), have been identified in both sporadic and neurofibromatosis type 2-associated tumors.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 16, "end": 24}], "disease": [{"text": "sporadic", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Amelioration of TGF-alpha-dependent pulmonary lesions in SP-C-EGF-R-M mice or wa-2/wa-2 mice supports the concept that autocrine and paracrine signaling mediate fibrosis and airspace remodeling caused by TGF-alpha.", "output": {"entities": {"gene": [{"text": "EGF", "start": 62, "end": 65}], "disease": [{"text": "fibrosis", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "BWMI patients showed abnormalities of carbohydrate, but not of NEFA, metabolism compared with white control subjects.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 63, "end": 67}], "disease": [{"text": "abnormalities", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In a secondary analysis of these 6 genes among parent-proband trios with a history of psychosis, evidence of the association with SIAT4A was strengthened.", "output": {"entities": {"gene": [{"text": "SIAT4A", "start": 130, "end": 136}], "disease": [{"text": "psychosis", "start": 86, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIAT4A", "start": 130, "end": 136}, "tail": {"text": "psychosis", "start": 86, "end": 95}}]}}, "schema": []}
{"input": "Increasing omega-3 index was correlated with higher insulin sensitivity (r = 0. 23; p = 0. 025), higher disposition index (r = 0. 20; p = 0. 054), and lower CRP concentrations (r =-0. 39; p < 0. 0001).", "output": {"entities": {"gene": [{"text": "CRP", "start": 157, "end": 160}], "disease": [{"text": "insulin sensitivity", "start": 52, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "KCa3. 1 inhibition switches the phenotype of glioma-infiltrating microglia/macrophages.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 0, "end": 7}], "disease": [{"text": "glioma", "start": 45, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "There was weak evidence to implicate the following: IL13, IFNGR2, EDN1, and VDR in asthma; IL18, TBXA2R, IFNGR2, and VDR in atopy; TLR9, TBXA2R, VDR, NOD2, and STAT6 in airway hyperresponsiveness; TLR10, IFNGR2, STAT6, VDR, and NPSR1 in atopic asthma.", "output": {"entities": {"gene": [{"text": "TLR9", "start": 131, "end": 135}], "disease": [{"text": "atopy", "start": 124, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "CCN family, comprising six members (Cyr61, CTGF, Nov, WISP-1, WISP-2, WISP-3), is involved in the stimulation of cell proliferation, migration, adhesion, angiogenesis, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 36, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Odds ratios (ORs) and 95% confidence intervals (95% CIs) for the joint association of NAT2 with smoking on breast cancer risk were estimated using logistic regression.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 86, "end": 90}], "disease": [{"text": "smoking", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "BRAF mutation correlates with recurrent papillary thyroid carcinoma in Chinese patients.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 0, "end": 4}], "disease": [{"text": "papillary thyroid carcinoma", "start": 40, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRAF", "start": 0, "end": 4}, "tail": {"text": "papillary thyroid carcinoma", "start": 40, "end": 67}}]}}, "schema": []}
{"input": "Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait.", "output": {"entities": {"gene": [{"text": "KVLQT1", "start": 17, "end": 23}], "disease": [{"text": "Romano-Ward syndrome", "start": 94, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KVLQT1", "start": 17, "end": 23}, "tail": {"text": "Romano-Ward syndrome", "start": 94, "end": 114}}]}}, "schema": []}
{"input": "In HDGC families lacking CDH1 mutations, testing of CTNNA1 and other tumor suppressor genes should be considered.", "output": {"entities": {"gene": [{"text": "CTNNA1", "start": 52, "end": 58}], "disease": [{"text": "HDGC", "start": 3, "end": 7}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNNA1", "start": 52, "end": 58}, "tail": {"text": "HDGC", "start": 3, "end": 7}}]}}, "schema": []}
{"input": "The t (6; 8) (q27; p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.", "output": {"entities": {"gene": [{"text": "p11", "start": 19, "end": 22}], "disease": [{"text": "myeloproliferative disorder", "start": 53, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the cell invasion, migration and adhesion capabilities were decreased after inhibition of MTA1 expression mediated by Mta1-siRNA transfection in SiHa.", "output": {"entities": {"gene": [{"text": "Mta1", "start": 131, "end": 135}], "disease": [{"text": "adhesion", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that SE may induce impairments of astroglial AQP4 functions via disruption of the dystrophin/& #945;-syntrophin complex that worsen vasogenic edema.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 105, "end": 115}], "disease": [{"text": "SE", "start": 28, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dystrophin", "start": 105, "end": 115}, "tail": {"text": "SE", "start": 28, "end": 30}}]}}, "schema": []}
{"input": "Therefore, we assumed that RhoE might play an important role in gastric cancer metastasis.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 27, "end": 31}], "disease": [{"text": "gastric cancer", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 77, "end": 82}], "disease": [{"text": "Autosomal dominant hypophosphataemic rickets", "start": 0, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF23", "start": 77, "end": 82}, "tail": {"text": "Autosomal dominant hypophosphataemic rickets", "start": 0, "end": 44}}]}}, "schema": []}
{"input": "The present study represents the first report on the expression of both HOXB2 and HOXB13 proteins through cervix tumorigenesis, providing evidence that increased expression of such proteins is a common event during progression to CeCa.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 82, "end": 88}], "disease": [{"text": "tumorigenesis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The introduction of the Fgfr3 mutations resulted in no obvious effect on tumorigenesis up to 18 months of age.", "output": {"entities": {"gene": [{"text": "Fgfr3", "start": 24, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "This deficit in alveolar leukocyte recruitment was also observed in LysM-Adam10 (-/-) mice lacking ADAM10 in myeloid cells and correlated with protection against edema formation.", "output": {"entities": {"gene": [{"text": "ADAM10", "start": 99, "end": 105}], "disease": [{"text": "edema", "start": 162, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "DDR1 deletion protected NTS-treated mice against glomerular disease (proteinuria/creatininuria 5. 5 ± 1. 1 vs. 13. 2 ± 0. 8 g/mmol in WT, crescents 12 ± 2 vs. 24 ± 2% of glomeruli, urea 16 ± 2 vs. 28 ± 5 mM), hypertension (123 ± 11 vs. 157 ± 8 mmHg), and premature death (70 vs. 10% survival) (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "DDR1", "start": 0, "end": 4}], "disease": [{"text": "proteinuria", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Novel LMNA gene mutation in a patient with Atypical Werner' s Syndrome.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 6, "end": 10}], "disease": [{"text": "Atypical Werner' s Syndrome", "start": 43, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 6, "end": 10}, "tail": {"text": "Atypical Werner' s Syndrome", "start": 43, "end": 70}}]}}, "schema": []}
{"input": "To evaluate the clinical relevance of SNCG expression in breast cancer progression and its correlation with clinical parameters, we analyzed SNCG expression in 79 clinical breast specimens from primary breast cancer, hyperplasia, and fibroadenoma patients by reverse transcription-PCR.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 38, "end": 42}], "disease": [{"text": "hyperplasia", "start": 217, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "To maximize the safety and efficacy of ETAR-targeted OC therapy, we investigated the role of other G protein subunits such as G & #945; s in the ETAR-mediated ovarian oncogenic signaling.", "output": {"entities": {"gene": [{"text": "ETAR", "start": 39, "end": 43}], "disease": [{"text": "OC", "start": 53, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ETAR", "start": 39, "end": 43}, "tail": {"text": "OC", "start": 53, "end": 55}}]}}, "schema": []}
{"input": "Eighteen goblet cell carcinoids (GCCs) and 20 classic carcinoids were stained with CK19, CD99, and Ki-67, and these results were correlated with known pathological features of aggression: extent of invasion, mitoses, necrosis, and histological pattern.", "output": {"entities": {"gene": [{"text": "CK19", "start": 83, "end": 87}], "disease": [{"text": "aggression", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Intraperitoneal injection of 6 microg Abeta (1-40) into 18-days-old rat fetuses (approximately 3 g body weight) resulted after 24 h in the appearance of the peptide in various fetal organs including brain where it enhanced the levels of glutathione (GSH), glutathione reductase, glutathione peroxidase, and stimulated the levels of pro-survival signaling activities such as Akt serine/threonine kinase, extracellular signal-regulated kinase (ERK) and protein kinase C enzymes.", "output": {"entities": {"gene": [{"text": "ERK", "start": 442, "end": 445}], "disease": [{"text": "body weight", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "This latter feature would predispose p73 to gene inactivation because a single genetic' hit' or the loss of the expressed parental allele would leave the cell without p73 activity.", "output": {"entities": {"gene": [{"text": "p73", "start": 37, "end": 40}], "disease": [{"text": "hit", "start": 88, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Expression of cS5-F also prevented involution and caused the formation of estrogen and progesterone receptor positive (ER (+) PR (+)) adenocarcinomas.", "output": {"entities": {"gene": [{"text": "cS5-F", "start": 14, "end": 19}], "disease": [{"text": "adenocarcinomas", "start": 134, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cS5-F", "start": 14, "end": 19}, "tail": {"text": "adenocarcinomas", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "MiR-221 promotes the development of androgen independence in prostate cancer cells via downregulation of HECTD2 and RAB1A.", "output": {"entities": {"gene": [{"text": "RAB1A", "start": 116, "end": 121}], "disease": [{"text": "prostate cancer", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "OAS1 rs2660 may be a prostate cancer susceptibility polymorphism, which is a significant observation, especially in a context of the OAS1-RNaseL pathway.", "output": {"entities": {"gene": [{"text": "OAS1", "start": 0, "end": 4}], "disease": [{"text": "prostate cancer susceptibility", "start": 21, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "This study included 122 sporadic colorectal cancers from three different age groups and analyzed mutation frequencies of adenomatous polyposis coli (APC), K-ras, and p53 genes and microsatellite instability to determine their mutation frequencies and relationships with clinicopathological features.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 166, "end": 175}], "disease": [{"text": "sporadic", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Stably transfected Chinese hamster ovary (CHO) fibroblast and U373 astrocytoma cell lines expressing membrane-anchored LBP (mLBP), as well as separate CHO and U373 cell lines expressing membrane CD14 (mCD14), were subsequently generated.", "output": {"entities": {"gene": [{"text": "CD14", "start": 195, "end": 199}], "disease": [{"text": "astrocytoma", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Increased hypermethylation of glutathione S-transferase P1, DNA-binding protein inhibitor, death associated protein kinase and paired box protein-5 genes in triple-negative breast cancer Saudi females.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 60, "end": 79}], "disease": [{"text": "triple-negative breast cancer", "start": 157, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.", "output": {"entities": {"gene": [{"text": "LHX2", "start": 29, "end": 33}], "disease": [{"text": "schizencephaly", "start": 62, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that membrane-expressed SEA by adenovirus from AdAFPSEA can generate stronger local and systemic antitumor responses against HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 148, "end": 151}], "disease": [{"text": "adenovirus", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer.", "output": {"entities": {"gene": [{"text": "tensin", "start": 41, "end": 47}], "disease": [{"text": "cancer", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We refer to the phenotype caused by the Lys650Met mutation as \" severe achondroplasia with developmental delay and acanthosis nigricans \" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 215, "end": 220}], "disease": [{"text": "severe achondroplasia with developmental delay and acanthosis nigricans", "start": 64, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 215, "end": 220}, "tail": {"text": "severe achondroplasia with developmental delay and acanthosis nigricans", "start": 64, "end": 135}}]}}, "schema": []}
{"input": "In human cAF modifications in transcriptional and posttranscriptional mechanisms of HCN channels occur, associated with a slight yet significant gain-of-function of If, which may contribute to enhanced atrial ectopy.", "output": {"entities": {"gene": [{"text": "HCN", "start": 84, "end": 87}], "disease": [{"text": "atrial ectopy", "start": 202, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "The results were that cardiomyocytes, exposed to 25 mM glucose for 48 h, showed cellular hypertrophy and augmented mRNA expression of ANP, BNP, and ANG, molecular markers of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "ANG", "start": 148, "end": 151}], "disease": [{"text": "cardiac hypertrophy", "start": 174, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We postulated that mutations in writers of these two chromatin marks could cause overgrowth conditions, resembling Sotos or Weaver syndromes, in patients with no NSD1 or EZH2 abnormalities.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 162, "end": 166}], "disease": [{"text": "abnormalities", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants of IL-13 signalling and human asthma and atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 20, "end": 25}], "disease": [{"text": "atopy", "start": 58, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "FBI-1/OCZF/LRF regulates osteoclast formation and apoptosis in vivo, and may become a useful marker and target in treating disorders leading to reduced bone density, including chronic arthritis.", "output": {"entities": {"gene": [{"text": "LRF", "start": 11, "end": 14}], "disease": [{"text": "bone density", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 31, "end": 47}], "disease": [{"text": "lipoprotein glomerulopathy", "start": 71, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "apolipoprotein E", "start": 31, "end": 47}, "tail": {"text": "lipoprotein glomerulopathy", "start": 71, "end": 97}}]}}, "schema": []}
{"input": "TSPO expression is induced in adult dorsal root ganglion (DRG) sensory neurons after peripheral nerve injury and a TSPO receptor ligand, Ro5-4864, enhances DRG neurite growth in vitro and axonal regeneration in vivo.", "output": {"entities": {"gene": [{"text": "DRG", "start": 58, "end": 61}], "disease": [{"text": "axonal regeneration", "start": 188, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The thrombopoietin/MPL/Bcl-xL pathway is essential for survival and self-renewal in human preleukemia induced by AML1-ETO.", "output": {"entities": {"gene": [{"text": "ETO", "start": 118, "end": 121}], "disease": [{"text": "preleukemia", "start": 90, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Silencing MTA1 by RNAi reverses adhesion, migration and invasiveness of cervical cancer cells (SiHa) via altered expression of p53, and E-cadherin/β-catenin complex.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 10, "end": 14}], "disease": [{"text": "adhesion", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of transforming growth factor (TGF)-α in the lung epithelium of transgenic mice causes a progressive pulmonary fibrosis associated with increased MEK/ERK activation localized primarily in mesenchymal cells.", "output": {"entities": {"gene": [{"text": "ERK", "start": 165, "end": 168}], "disease": [{"text": "pulmonary fibrosis", "start": 116, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, these data point towards a possible predictive impact of EFEMP1 expression in primary breast cancer.", "output": {"entities": {"gene": [{"text": "EFEMP1", "start": 70, "end": 76}], "disease": [{"text": "breast cancer", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EFEMP1", "start": 70, "end": 76}, "tail": {"text": "breast cancer", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "Thus, (a) human breast carcinoma cell surface-associated MT1-MMP, via activating proMMP-2, stimulates TCIPA; (b) ADP amplifies the effects of MMPs via stimulation of P2Y (12) receptors and (c) both tumour-and platelet-derived GPIb and GPIIb/IIIa are involved in the aggregatory effects of MT1-MMP.", "output": {"entities": {"gene": [{"text": "ADP", "start": 113, "end": 116}], "disease": [{"text": "tumour", "start": 198, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The HER2 gene, which encodes the growth factor receptor HER2, is amplified and HER2 is overexpressed in 25 to 30 percent of breast cancers, increasing the aggressiveness of the tumor.", "output": {"entities": {"gene": [{"text": "HER2", "start": 4, "end": 8}], "disease": [{"text": "aggressiveness", "start": 155, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Y chromosome binary polymorphisms on the non-recombining Y (NRY) region, believed to be a single occurrence on an evolutionary scale, were typed in a sample of fertile and infertile men with known DAZ backgrounds.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 197, "end": 200}], "disease": [{"text": "infertile", "start": 172, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.", "output": {"entities": {"gene": [{"text": "interleukin-2 receptor gamma", "start": 31, "end": 59}], "disease": [{"text": "X-linked severe combined immunodeficiency", "start": 83, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "interleukin-2 receptor gamma", "start": 31, "end": 59}, "tail": {"text": "X-linked severe combined immunodeficiency", "start": 83, "end": 124}}]}}, "schema": []}
{"input": "NSC patients in substantial proportion harbour mutations in DCDC2.", "output": {"entities": {"gene": [{"text": "DCDC2", "start": 60, "end": 65}], "disease": [{"text": "NSC", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DCDC2", "start": 60, "end": 65}, "tail": {"text": "NSC", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "The A allele of the TNF-alpha-308G > A gene polymorphism and the presence of α2-thal3. 7 kb were associated with an increase risk of splenic sequestration events (p =. 001; p =. 046), while the T allele of the IL-8-251A > T gene polymorphism was considered to be a protective factor for splenomegaly events (p =. 032).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 20, "end": 29}], "disease": [{"text": "splenic sequestration", "start": 133, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In this work, we analyzed the association of SNPs in P53 (rs1042522), MDM2 (rs2279744), MDM4 (rs1380576) and Hausp (rs1529916) genes with gastric cancer in a hospital-based Chinese Han population (642 cases and 720 cancer-free controls).", "output": {"entities": {"gene": [{"text": "Hausp", "start": 109, "end": 114}], "disease": [{"text": "gastric cancer", "start": 138, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Caveolin-1 (CAV1) is the main protein in the caveolin family and plays an important role in tumorigenesis signaling.", "output": {"entities": {"gene": [{"text": "CAV1", "start": 12, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "No significant association was found between atherosclerosis and four polymorphisms of the PON gene cluster (PON1-108C/T, PON1 Q192R, PON2 A148G, PON2 C311S).", "output": {"entities": {"gene": [{"text": "PON", "start": 91, "end": 94}], "disease": [{"text": "atherosclerosis", "start": 45, "end": 60}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PON", "start": 91, "end": 94}, "tail": {"text": "atherosclerosis", "start": 45, "end": 60}}]}}, "schema": []}
{"input": "Furthermore, SIOD patient fibroblasts reconstituted with SMARCAL1 exhibit faster cell cycle progression after S-phase arrest.", "output": {"entities": {"gene": [{"text": "SMARCAL1", "start": 57, "end": 65}], "disease": [{"text": "SIOD", "start": 13, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCAL1", "start": 57, "end": 65}, "tail": {"text": "SIOD", "start": 13, "end": 17}}]}}, "schema": []}
{"input": "We analyzed the segregation of the ApoE and ACT polymorphism in sporadic and familial AD patients.", "output": {"entities": {"gene": [{"text": "ACT", "start": 44, "end": 47}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree.", "output": {"entities": {"gene": [{"text": "T gene", "start": 51, "end": 57}], "disease": [{"text": "familial hypertrophic cardiomyopathy", "start": 62, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 198, "end": 203}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We describe a patient with partial dexamethasone suppression consistent with Cushing' s disease, an absent response to CRH suggesting ectopic ACTH production and an atypical, apparent circadian rhythm.", "output": {"entities": {"gene": [{"text": "CRH", "start": 119, "end": 122}], "disease": [{"text": "circadian rhythm", "start": 184, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The PTEN mutation carriers were obese as compared with population-based controls (mean body-mass index [the weight in kilograms divided by the square of the height in meters], 32 [range, 23 to 42] vs. 26 [range, 15 to 48]; P < 0. 001).", "output": {"entities": {"gene": [{"text": "PTEN", "start": 4, "end": 8}], "disease": [{"text": "height", "start": 157, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Niemann-Pick C disease (NPC) is a vesicular trafficking disorder primarily caused by mutations in the Npc1 gene and characterized by liver dysfunction and neuropathology.", "output": {"entities": {"gene": [{"text": "Npc1", "start": 102, "end": 106}], "disease": [{"text": "liver dysfunction", "start": 133, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Npc1", "start": 102, "end": 106}, "tail": {"text": "liver dysfunction", "start": 133, "end": 150}}]}}, "schema": []}
{"input": "Here we report two sporadic cases of Gitelman' s syndrome and two novel genotypes of SLC12A3.", "output": {"entities": {"gene": [{"text": "SLC12A3", "start": 85, "end": 92}], "disease": [{"text": "Gitelman' s syndrome", "start": 37, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC12A3", "start": 85, "end": 92}, "tail": {"text": "Gitelman' s syndrome", "start": 37, "end": 57}}]}}, "schema": []}
{"input": "The BCL10 gene was identified at the breakpoint region of the t (1; 14) (p22; q32) translocation in mucosa-associated lymphoid tissue lymphoma.", "output": {"entities": {"gene": [{"text": "p22", "start": 73, "end": 76}], "disease": [{"text": "mucosa-associated lymphoid tissue lymphoma", "start": 100, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In addition, deregulated HSET protein expression was associated with gene amplification and/or translocation.", "output": {"entities": {"gene": [{"text": "HSET", "start": 25, "end": 29}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "One SNP (located in the CAPN 13 gene, rs1879282) passed adjustments for the multiple testing mentioned above and had a significant (p <. 01) gene-BMI interaction on both systolic blood pressure (SBP) and diastolic blood pressure (DBP) among African American female offspring.", "output": {"entities": {"gene": [{"text": "DBP", "start": 230, "end": 233}], "disease": [{"text": "systolic blood pressure", "start": 170, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "In multivariable logistic regression analysis including skin type, eye and hair color, number of nevi, and dorsal lentigines (freckles), the association between EDNRB mutations and MM risk remained statistically significant (OR = 19. 9, 95% CI = 1. 34 to 296. 2; P =. 03).", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 161, "end": 166}], "disease": [{"text": "freckles", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Autotaxin immunohistochemical staining was also increased in benign neoplasms with leukocytic infiltrations.", "output": {"entities": {"gene": [{"text": "Autotaxin", "start": 0, "end": 9}], "disease": [{"text": "benign neoplasms", "start": 61, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were available from four patients with CFD and seven unaffected relatives, and the DNAs were subjected to molecular screening of the phosphoinositide kinase, five finger-containing (PIKFYVE) gene by direct sequencing or denaturing high performance liquid chromatography (DHPLC).", "output": {"entities": {"gene": [{"text": "PIKFYVE", "start": 196, "end": 203}], "disease": [{"text": "CFD", "start": 53, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIKFYVE", "start": 196, "end": 203}, "tail": {"text": "CFD", "start": 53, "end": 56}}]}}, "schema": []}
{"input": "Koreans have a higher frequency of the hepatic lipase gene 514T allele than Caucasians, and the-514T allele is associated with higher plasma HDL-C levels in Korean women, and perhaps non-smoking men.", "output": {"entities": {"gene": [{"text": "hepatic lipase", "start": 39, "end": 53}], "disease": [{"text": "smoking", "start": 187, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The risk profile of advanced atherogenesis further includes cigarette smoking, high lipoprotein (a), the factor V Leiden mutation, low antithrombin III, high fibrinogen, and diabetes.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 135, "end": 151}], "disease": [{"text": "fibrinogen", "start": 158, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Overall, the strong inhibition of MMP expression by Rh2 might provide a potential therapeutic modality for brain tumors.", "output": {"entities": {"gene": [{"text": "Rh2", "start": 52, "end": 55}], "disease": [{"text": "brain tumors", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Infusion of antiserum against salusin-β attenuated the induction of VCAM-1, monocyte chemoattractant protein (MCP)-1, and IL-1β and as well as nuclear translocation of NF-κB in aortic endothelial cells (ECs) of LDL receptor-deficient mice, which led to the prevention of monocyte adhesion to aortic ECs.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 168, "end": 173}], "disease": [{"text": "adhesion", "start": 280, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "p53, Bcl-2, Bcl-XL, Bax and Mdm2 mRNA expression patterns were evaluated in tissue samples with cervical intraepithelial neoplasia (CIN) and cervical cancer compared to those of normal cervical tissues, and correlated with the underlying cervical lesions.", "output": {"entities": {"gene": [{"text": "Bcl-XL", "start": 12, "end": 18}], "disease": [{"text": "cervical cancer", "start": 141, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Blood samples from 132 unrelated Sbeta +-thalassaemia patients attending the MRC Sickle Cell Unit at the University of the West Indies were analysed by amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) or sequencing to determine the nature and frequencies of the underlying beta-thalassaemia mutations.", "output": {"entities": {"gene": [{"text": "MRC", "start": 77, "end": 80}], "disease": [{"text": "thalassaemia", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Leukemia cells with low levels of MSH2 contained partial or complete somatic deletions of one to four genes that regulate MSH2 degradation (FRAP1 (also known as MTOR), HERC1, PRKCZ and PIK3C2B); we also found these deletions in individuals with adult acute lymphoblastic leukemia (16%) and sporadic colorectal cancer (13. 5%).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 34, "end": 38}], "disease": [{"text": "sporadic", "start": 290, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the L-2-HGA gene (L2HGDH), recently found to be mutated in consanguineous families with L-2-HGA, and identified seven novel mutations in 15 families.", "output": {"entities": {"gene": [{"text": "L-2-HGA", "start": 16, "end": 23}], "disease": [{"text": "L-2-HGA", "start": 100, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L-2-HGA", "start": 16, "end": 23}, "tail": {"text": "L-2-HGA", "start": 100, "end": 107}}]}}, "schema": []}
{"input": "The expression of alpha-smooth muscle actin (alpha-SMA), vimentin, and zona occludens (ZO)-1 were examined via PCR, Western blot analysis, and immunofluorescence.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 24, "end": 43}], "disease": [{"text": "zona", "start": 71, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Positive 14-3-3sigma protein expression (> 30% of tumor cells) was observed in 67. 7% (63/93) of cases of intrahepatic cholangiocarcinoma and was inversely correlated with cyclin B1 expression.", "output": {"entities": {"gene": [{"text": "cyclin B1", "start": 172, "end": 181}], "disease": [{"text": "intrahepatic cholangiocarcinoma", "start": 106, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We assessed TWEAK and its receptor Fn14 expression in response to angiotensin (Ang) II, myocardial infarction (MI) as well as to local adenovirus-mediated p38 gene transfer in vivo.", "output": {"entities": {"gene": [{"text": "Fn14", "start": 35, "end": 39}], "disease": [{"text": "adenovirus", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In support of this notion, the loss of glioma cell survival upon APPL2 knockdown can be rescued either by an excess of netrin-1, the prosurvival ligand of UNC5B or by simultaneous silencing of HRK.", "output": {"entities": {"gene": [{"text": "UNC5B", "start": 155, "end": 160}], "disease": [{"text": "glioma", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "For the interferon regulatory factor (IRF) family of transcription factors, mice deficient in Irf1, Irf2, Irf3, Irf4, Irf5, Irf7, Irf8 or Irf9 have defects in the immune response but show no embryologic abnormalities.", "output": {"entities": {"gene": [{"text": "Irf7", "start": 124, "end": 128}], "disease": [{"text": "abnormalities", "start": 203, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "We did not observe significant differences in MnSOD, GSTM1 and GSTP1 genotypes distribution according to CIMT, plaque type or plaque score.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 63, "end": 68}], "disease": [{"text": "plaque", "start": 111, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "These abnormalities include alterations that encompass novel candidate genes such as SNTG2, SOX5, HFE, and TRIP38.", "output": {"entities": {"gene": [{"text": "SNTG2", "start": 85, "end": 90}], "disease": [{"text": "abnormalities", "start": 6, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "(Very) severe acquired aplastic anemia ((v) SAA) and myelodysplastic syndrome (MDS) are rare diseases in childhood.", "output": {"entities": {"gene": [{"text": "SAA", "start": 44, "end": 47}], "disease": [{"text": "aplastic anemia", "start": 23, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The results showed that variants of DICER1 and DROSHA may modify the risk of abnormal semen parameters, which could result in male infertility.", "output": {"entities": {"gene": [{"text": "DROSHA", "start": 47, "end": 53}], "disease": [{"text": "male infertility", "start": 126, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DROSHA", "start": 47, "end": 53}, "tail": {"text": "male infertility", "start": 126, "end": 142}}]}}, "schema": []}
{"input": "The reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation.", "output": {"entities": {"gene": [{"text": "RPE", "start": 84, "end": 87}], "disease": [{"text": "secondary", "start": 132, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "To determine whether the association between family history of diabetes (FHD) and impaired fasting glucose (IFG) is independent of body mass index (BMI) in children and adolescents.", "output": {"entities": {"gene": [{"text": "IFG", "start": 108, "end": 111}], "disease": [{"text": "body mass index", "start": 131, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Mammaglobin B expression was evaluated by real-time PCR and/or immunohistochemistry in fresh-frozen biopsies and paraffin-embedded tissues derived from a total of 137 patients including 69 primary EOC with different histologies, 28 serous papillary omental metastasis, 8 borderline tumors, 26 benign cystadenomas and 14 normal ovaries.", "output": {"entities": {"gene": [{"text": "Mammaglobin B", "start": 0, "end": 13}], "disease": [{"text": "tumors", "start": 282, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "The RAGE levels in the pulmonary edema fluid from patients with ALI were higher than the levels from patients with hydrostatic pulmonary edema (p < 0. 05), and the plasma RAGE level in patients with ALI were significantly higher than the healthy volunteers (p < 0. 001) or patients with hydrostatic pulmonary edema (p < 0. 05).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 4, "end": 8}], "disease": [{"text": "pulmonary edema", "start": 23, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Similarly, we recently discovered that genetic variation in components of the stress-related hypothalamic pituitary adrenocortical axis, T-box 19 and corticotropin releasing hormone receptor 1, showed association and linkage to high anger/hostility in and male depression the suicidal offspring, respectively.", "output": {"entities": {"gene": [{"text": "T-box 19", "start": 137, "end": 145}], "disease": [{"text": "depression", "start": 261, "end": 271}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "T-box 19", "start": 137, "end": 145}, "tail": {"text": "depression", "start": 261, "end": 271}}]}}, "schema": []}
{"input": "After intravenous inoculation of 5 x 10 (7) RS4; 11 leukemia cells, the median survival times were 41 days for saline-treated control mice (n = 12), 44 days for control mice treated with unconjugated B43 monoclonal antibody and PAP (n = 12), 56 days for mice treated with the control immunotoxin G17. 2 (anti-CD4)-PAP (n = 6), 79 days for B43-PAP-treated test mice (n = 12), and 80 days for cyclophosphamide-treated test mice (n = 16).", "output": {"entities": {"gene": [{"text": "CD4", "start": 309, "end": 312}], "disease": [{"text": "leukemia", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 10, "end": 19}], "disease": [{"text": "limb-girdle muscular dystrophy type 2B", "start": 32, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 10, "end": 19}, "tail": {"text": "limb-girdle muscular dystrophy type 2B", "start": 32, "end": 70}}]}}, "schema": []}
{"input": "Debris (termed drusen) below the retinal pigment epithelium (RPE) have been recognized as a risk factor for dry AMD and its progression to wet AMD, which is characterized by choroidal neovascularization (CNV).", "output": {"entities": {"gene": [{"text": "RPE", "start": 61, "end": 64}], "disease": [{"text": "choroidal neovascularization", "start": 174, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "A total of 16 TC, 13 AC, 16 large cell neuroendocrine carcinomas and 15 small cell lung cancer were investigated for the mRNA expression of 11 transcription factors and related genes (MYB, MYBBP1A, OCT4, PAX6, PCDHB, RBP1, SDCBP, SOX2, SOX4, SOX11, TEAD2).", "output": {"entities": {"gene": [{"text": "TEAD2", "start": 249, "end": 254}], "disease": [{"text": "small cell lung cancer", "start": 72, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.", "output": {"entities": {"gene": [{"text": "ATP2C1", "start": 12, "end": 18}], "disease": [{"text": "Hailey-Hailey disease", "start": 72, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2C1", "start": 12, "end": 18}, "tail": {"text": "Hailey-Hailey disease", "start": 72, "end": 93}}]}}, "schema": []}
{"input": "These studies suggest that up-regulation of Nek2 is a frequent event in human seminomas and that this may participate in the onset or progression of neoplastic transformation through deregulation of centrosome duplication and/or nuclear events in germ cells.", "output": {"entities": {"gene": [{"text": "Nek2", "start": 44, "end": 48}], "disease": [{"text": "neoplastic transformation", "start": 149, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The human QKI gene, called quaking homolog, KH domain RNA binding (mouse), is a candidate gene for schizophrenia encoding an RNA-binding protein.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 125, "end": 144}], "disease": [{"text": "schizophrenia", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Nucleotide sequence analysis was performed on all coding exons and exon-intron borders of GCMB in 30 sporadic parathyroid adenomas and we identified several known polymorphisms that were either heterozygous or homozygous.", "output": {"entities": {"gene": [{"text": "GCMB", "start": 90, "end": 94}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Hematopoietic cell transplantation (HCT) from an HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 allele-matched unrelated donor is a well-recognized life-saving treatment modality for patients with hematologic disorders.", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 84, "end": 92}], "disease": [{"text": "hematologic disorders", "start": 194, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46, XY duplicated persons were completely normal and fertile whereas the 46, XX ones were males who came to clinical attention because of infertility.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 116, "end": 120}], "disease": [{"text": "infertility", "start": 268, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "Cells from 40 probands (group A) secreted about half the normal amount of normal type I procollagen and no identifiable abnormal molecules; these patients were generally of normal stature, rarely had bone deformity or dentinogenesis imperfecta, and had blue sclerae.", "output": {"entities": {"gene": [{"text": "type I procollagen", "start": 81, "end": 99}], "disease": [{"text": "bone deformity", "start": 200, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Mutations in COL8A2 gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD).", "output": {"entities": {"gene": [{"text": "VIII", "start": 61, "end": 65}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.", "output": {"entities": {"gene": [{"text": "KIF22", "start": 47, "end": 52}], "disease": [{"text": "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type", "start": 56, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF22", "start": 47, "end": 52}, "tail": {"text": "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type", "start": 56, "end": 126}}]}}, "schema": []}
{"input": "Our study suggests that the effect of dietary selenium on the risk of ESCC may be modulated by tobacco smoking, alcohol drinking, and p53 Pro/Pro and GSTP1 Ile/Ile genotypes.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 150, "end": 155}], "disease": [{"text": "alcohol drinking", "start": 112, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Our data identified HIF-1α as a regulator of CD44 that increased the number of CD44 molecules and the percentage of CD44 positive cells expressing variant exons v6 and v7/8 in breast cancer cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "CD44", "start": 45, "end": 49}], "disease": [{"text": "hypoxic", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "The association between Hp1 and lacunar stroke suggests that Hp may serve different functions depending on the pathological processes in various types of vascular disease in different organs.", "output": {"entities": {"gene": [{"text": "Hp1", "start": 24, "end": 27}], "disease": [{"text": "vascular disease", "start": 154, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "G/A or A/A genotype of the LEPR Q223R SNP was associated with a significantly higher body weight, higher height velocity before treatment, but not after GH treatment.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 27, "end": 31}], "disease": [{"text": "height", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "All 4, 880 ketosis-free diabetic patients (< 1 year postdiagnosis, without insulin therapy for > 6 months, aged ≥ 30 years) had GAD antibody (GADA) and HLA-DQ genotype measured centrally with clinical data collected locally.", "output": {"entities": {"gene": [{"text": "HLA-DQ", "start": 152, "end": 158}], "disease": [{"text": "ketosis", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have performed the experiments to test the hypothesis that histone H3K14 acetylation is the key role in the fetal heart leads to over-expression of cardiac specific genes DHAND and EHAND caused by prenatal alcohol exposure.", "output": {"entities": {"gene": [{"text": "EHAND", "start": 206, "end": 211}], "disease": [{"text": "prenatal alcohol exposure", "start": 222, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EHAND", "start": 206, "end": 211}, "tail": {"text": "prenatal alcohol exposure", "start": 222, "end": 247}}]}}, "schema": []}
{"input": "We analyzed the correlation between osteoporosis and carotid atherosclerosis (CA) by exploring the effects of ApoE gene polymorphisms on bone mineral density (BMD) of the lumbar spine and CA.", "output": {"entities": {"gene": [{"text": "ApoE gene", "start": 110, "end": 119}], "disease": [{"text": "bone mineral density", "start": 137, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In diabetic patients, GSTT1-null conferred higher levels of triglycerides and VLDL-cholesterol, while GSTM1-null was associated with increased levels of fasting blood glucose, glycated hemoglobin and blood pressure.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 22, "end": 27}], "disease": [{"text": "hemoglobin", "start": 185, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "IL-4 increases type 2, but not type 1, cytokine production in CD8 + T cells from mild atopic asthmatics.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "mild", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We also found that the interaction between RIP3 and MLKL is required for the translocation of necrosomes to mitochondria-associated membranes.", "output": {"entities": {"gene": [{"text": "RIP3", "start": 43, "end": 47}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We performed extensive mutation analyses of PINK1 in 414 PD patients negative for parkin mutations (mean [SD] age at onset, 42. 8 [14. 3] years), including 391 unrelated patients (190 patients with sporadic PD and 201 probands of patients with familial PD) from 13 countries.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 44, "end": 49}], "disease": [{"text": "sporadic", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Loss of VHL E3 ubiquitin ligase function results in accumulation of the alpha-subunit of the hypoxia-inducible heterodimeric transcription factor (HIF-alpha) and transcription of an array of genes including vascular endothelial growth factor, transforming growth factor-alpha, and erythropoietin.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 12, "end": 31}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In this study, we hypothesized that sestrin2 may protect hippocampal CA1 neurons against transient global ischemia (TGI)-induced apoptosis by regulating RpS6 phosphorylation in rats.", "output": {"entities": {"gene": [{"text": "CA1", "start": 69, "end": 72}], "disease": [{"text": "ischemia", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Serum CRP level was positively correlated with BMI (r = 0. 494, p = 0. 000), waist: hip ratio (r = 0. 451, p = 0. 000), testosterone (r = 0. 214, p = 0. 032), homeostasis model assessment of insulin resistance (HOMA-IR; r = 0. 617, p = 0. 000) and MCP-1 (r = 0. 219, p = 0. 027), and negatively correlated with HDL-C (r =-0. 209, p = 0. 035).", "output": {"entities": {"gene": [{"text": "CRP", "start": 6, "end": 9}], "disease": [{"text": "insulin resistance", "start": 191, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Thus, the in vivo treatment with DAC can significantly promote the development of natural thymic CD4 (+) CD25 (+) Foxp3 (+) Treg cells through Foxp3 demethylation, implicating a therapeutic application of DAC in patients suffering from autoimmune diseases.", "output": {"entities": {"gene": [{"text": "DAC", "start": 33, "end": 36}], "disease": [{"text": "autoimmune diseases", "start": 236, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "While suggesting involvement of other genes in a substantial part of sporadic RER + colorectal carcinomas, our results also demonstrate a clear role of MSH2 and MLH1 in these sporadic tumors and show that young sporadic RER + colorectal carcinoma patients have a high probability of germline mutations.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 152, "end": 156}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In vitro, endothelial loss of Tie2 was observed upon lowering of shear stress, not upon LPS and TNF-α stimulation, suggesting that inflammation related haemodynamic changes play a major role in loss of Tie2 in vivo, as also hemorrhagic shock induced Tie2 mRNA loss.", "output": {"entities": {"gene": [{"text": "Tie2", "start": 30, "end": 34}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Heparin-induced thrombocytopenia/thrombosis in a transgenic mouse model requires human platelet factor 4 and platelet activation through FcgammaRIIA.", "output": {"entities": {"gene": [{"text": "platelet factor 4", "start": 87, "end": 104}], "disease": [{"text": "thrombosis", "start": 33, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "platelet factor 4", "start": 87, "end": 104}, "tail": {"text": "thrombosis", "start": 33, "end": 43}}]}}, "schema": []}
{"input": "Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.", "output": {"entities": {"gene": [{"text": "MTM1", "start": 118, "end": 122}], "disease": [{"text": "X-linked myotubular myopathy", "start": 55, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTM1", "start": 118, "end": 122}, "tail": {"text": "X-linked myotubular myopathy", "start": 55, "end": 83}}]}}, "schema": []}
{"input": "The frequencies of p27 (Kip1) downregulation and Skp2 overexpression in borderline CCAFs were significantly lower than those in atypical endometriosis components in endometriosis-associated CCAs (P < 0. 05, respectively).", "output": {"entities": {"gene": [{"text": "p27", "start": 19, "end": 22}], "disease": [{"text": "atypical endometriosis", "start": 128, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly.", "output": {"entities": {"gene": [{"text": "DSC", "start": 29, "end": 32}], "disease": [{"text": "enchondroma", "start": 11, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to ascertain whether the overexpression of human LPL in skeletal muscle leads to insulin resistance and to investigate the mechanism.", "output": {"entities": {"gene": [{"text": "LPL", "start": 74, "end": 77}], "disease": [{"text": "insulin resistance", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Since YY1 is a direct target of miR-34a, the low level of miR-34a increased the expression of YY1, promoting the aggressiveness of RCC cells.", "output": {"entities": {"gene": [{"text": "YY1", "start": 6, "end": 9}], "disease": [{"text": "aggressiveness", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The results provide strong evidence that MT-3 could be a biomarker for the development of high-grade bladder cancer and that the expression of the MT-3 gene is not involved in the in vitro malignant transformation of UROtsa cells by Cd (+ 2) and As (+ 3).", "output": {"entities": {"gene": [{"text": "MT-3", "start": 41, "end": 45}], "disease": [{"text": "bladder cancer", "start": 101, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MT-3", "start": 41, "end": 45}, "tail": {"text": "bladder cancer", "start": 101, "end": 115}}]}}, "schema": []}
{"input": "To determine whether dynamic RA production acutely regulates Apoc3 expression, its mRNA levels in response to retinoid treatments or adenovirus-mediated overexpression of hepatocyte nuclear factor 4 alpha (HNF4α) and chicken ovalbumin upstream-transcription factor II (COUP-TFII) were analyzed.", "output": {"entities": {"gene": [{"text": "hepatocyte nuclear factor 4 alpha", "start": 171, "end": 204}], "disease": [{"text": "adenovirus", "start": 133, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We have sequenced the breakpoint regions in one acute myeloid leukemia (AML) with t (16; 21) (p11; q22) resulting in the formation of a FUS/ERG hybrid gene and in four myxoid liposarcomas (MLS), three of which had the translocation t (12; 16) (q13; p11) and a FUS/CHOP fusion gene and one with t (12; 22; 20) (q13; q12; q11) and an EWS/CHOP hybrid gene.", "output": {"entities": {"gene": [{"text": "EWS", "start": 332, "end": 335}], "disease": [{"text": "translocation", "start": 218, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "A larger tumor size and heavier preoperative body weight was positively correlated with the relative expression of BRAF (V600E) mutation calculated by 2 (-△ △ Ct) method.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 115, "end": 119}], "disease": [{"text": "body weight", "start": 45, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Gene polymorphisms at GSTM1, GSTT1, and GSTP1 in subjects with presbycusis were not significantly different than in the controls (p > 0. 05).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 40, "end": 45}], "disease": [{"text": "presbycusis", "start": 63, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Functional consequences of AXL sequence variants in patients with idiopathic hypogonadotropic hypogonadism support the importance of AXL and the Tyro3, Axl, Mer (TAM) family in reproductive development.", "output": {"entities": {"gene": [{"text": "Tyro3", "start": 145, "end": 150}], "disease": [{"text": "idiopathic hypogonadotropic hypogonadism", "start": 66, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Aim of the study was therefore to evaluate the reliability of TH1/TH2 cytokine profiles in two individuals with different types of an allergic/atopic disposition: one of them showed a strong TH1/type 1-mediated tuberculin-reaction (subject A), the other (subject B) revealed elevated IgE-levels and eosinophil counts (TH2/type 2-mediated).", "output": {"entities": {"gene": [{"text": "TH1", "start": 62, "end": 65}], "disease": [{"text": "atopic", "start": 143, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Thus, AT2 oligomers inducing Galphaq/11 arrest are causally involved in inducing symptoms of neurodegeneration.", "output": {"entities": {"gene": [{"text": "AT2", "start": 6, "end": 9}], "disease": [{"text": "neurodegeneration", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We studied a family with hereditary sensory motor neuropathy and deafness accompanying a missense mutation in the MPZ gene.", "output": {"entities": {"gene": [{"text": "MPZ gene", "start": 114, "end": 122}], "disease": [{"text": "deafness", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "GRM7", "start": 20, "end": 24}], "disease": [{"text": "bipolar disorder", "start": 81, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRM7", "start": 20, "end": 24}, "tail": {"text": "bipolar disorder", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "Loss of PTEN permits CXCR4-mediated tumorigenesis through ERK1/2 in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 58, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The adhesion-induced, transient expression and secretion of procalcitonin and CGRP in vitro may play an important role during monocyte adhesion and migration in vivo.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 78, "end": 82}], "disease": [{"text": "adhesion", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "However, others and we have recently described cases of mild or asymptomatic immunodeficiencies with defects in either CIITA (class II transactivator) or RFX5, both proteins required for the transcription of HLA-D genes.", "output": {"entities": {"gene": [{"text": "RFX5", "start": 154, "end": 158}], "disease": [{"text": "mild", "start": 56, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "This was associated with increases in the numbers of leukemia-specific CD4 + T cells and high serum-levels of IL-12 and IFN-gamma.", "output": {"entities": {"gene": [{"text": "CD4", "start": 71, "end": 74}], "disease": [{"text": "leukemia", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Twenty high-grade VIN and 10 invasive cancer biopsies were assessed from Arnhem Land along with 24 high-grade VIN and 10 invasive cancer biopsies from other regions of NT.", "output": {"entities": {"gene": [{"text": "VIN", "start": 18, "end": 21}], "disease": [{"text": "invasive cancer", "start": 29, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Site-specific modification of apolipoprotein B by advanced glycosylation end-products: implications for lipoprotein clearance and atherogenesis.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 30, "end": 46}], "disease": [{"text": "atherogenesis", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Intratracheal administration of TFPI limits airway obstruction, improves gas exchange, and prevents mortality in rats with sulfur mustard-analog-induced acute lung injury.", "output": {"entities": {"gene": [{"text": "TFPI", "start": 32, "end": 36}], "disease": [{"text": "airway obstruction", "start": 44, "end": 62}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TFPI", "start": 32, "end": 36}, "tail": {"text": "airway obstruction", "start": 44, "end": 62}}]}}, "schema": []}
{"input": "Downregulation of AFP and STAT3 expression plays an important role in As (2) O (3)-induced apoptosis of AFPGC cells, which suggests a new mechanism of As (2) O (3)-induced cell apoptosis.", "output": {"entities": {"gene": [{"text": "AFP", "start": 18, "end": 21}], "disease": [{"text": "AFPGC", "start": 104, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AFP", "start": 18, "end": 21}, "tail": {"text": "AFPGC", "start": 104, "end": 109}}]}}, "schema": []}
{"input": "The persistent abnormal glycosylation of serum glycoproteins seen with the microarray data indicates persisting metabolic dyshomeostasis and gene dysregulation in \" treated \" GAL.", "output": {"entities": {"gene": [{"text": "GAL", "start": 175, "end": 178}], "disease": [{"text": "abnormal glycosylation", "start": 15, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Recent studies on the torque teno virus (TTV), genus Anellovirus, have allowed formulating the hypothesis that TTV may trigger autoimmune rheumatic diseases or have some pathogenic role in them.", "output": {"entities": {"gene": [{"text": "TTV", "start": 41, "end": 44}], "disease": [{"text": "rheumatic diseases", "start": 138, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "TSPY serves normal functions in male stem germ cell proliferation and differentiation, but is ectopically expressed in early and late stages of gonadoblastomas, testicular carcinoma in situ (the premalignant precursor for all testicular germ cell tumors), seminomas, and selected nonseminomas.", "output": {"entities": {"gene": [{"text": "TSPY", "start": 0, "end": 4}], "disease": [{"text": "premalignant", "start": 195, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Levels of the basic coagulation profile, fibrinogen, and factor VIII were within normal limits.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 57, "end": 68}], "disease": [{"text": "fibrinogen", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 32, "end": 37}], "disease": [{"text": "osteoglophonic dysplasia", "start": 41, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR1", "start": 32, "end": 37}, "tail": {"text": "osteoglophonic dysplasia", "start": 41, "end": 65}}]}}, "schema": []}
{"input": "The upregulation of NF-kappaB-dependent interleukin-6 (IL-6) transcription and secretion that occurs following adhesion of myeloma cells to bone marrow stromal cells (BMSCs) may serve as a potential therapeutic target, as IL-6 is a growth and survival factor for myeloma cells.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 20, "end": 29}], "disease": [{"text": "adhesion", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Our results also suggest that NF-κB is involved in the PACT-PKR interaction and the production of pro-inflammatory cytokines in periodontitis.", "output": {"entities": {"gene": [{"text": "PKR", "start": 60, "end": 63}], "disease": [{"text": "periodontitis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Mutated KIT and platelet-derived growth factor alpha gene (PDGFRA) drive GI stromal tumor (GIST) oncogenesis, but the clinical significance of their single mutations is known incompletely.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 47, "end": 57}], "disease": [{"text": "stromal tumor", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "IR-inducible clusterin gene expression: a protein with potential roles in ionizing radiation-induced adaptive responses, genomic instability, and bystander effects.", "output": {"entities": {"gene": [{"text": "clusterin gene", "start": 13, "end": 27}], "disease": [{"text": "genomic instability", "start": 121, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The incidence of NTDs was 18% in fetuses exposed to VA alone, compared to 3. 7% and 2. 9% in fetuses exposed to IFN-gamma + VA, or GM-CSF + VA respectively.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 131, "end": 137}], "disease": [{"text": "NTD", "start": 17, "end": 20}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GM-CSF", "start": 131, "end": 137}, "tail": {"text": "NTD", "start": 17, "end": 20}}]}}, "schema": []}
{"input": "Patients undergoing ICSI (n = 508) were classified according to the referring indications as: (1) males with severe infertility (87 azoospermia and 34 oligoasthenoteratozoospermia, OAT), (2) prior to ICSI (56 males and 61 females), and (3) following an unsuccessful ICSI procedure (132 males and 138 females).", "output": {"entities": {"gene": [{"text": "OAT", "start": 181, "end": 184}], "disease": [{"text": "infertility", "start": 116, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Substance addiction, which includes alcohol, has been shown to involve the major nicotinic acetylcholine receptor subunit CHRNA5.", "output": {"entities": {"gene": [{"text": "CHRNA5", "start": 122, "end": 128}], "disease": [{"text": "Substance addiction", "start": 0, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA5", "start": 122, "end": 128}, "tail": {"text": "Substance addiction", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "Together, our data suggest that loss of a gene frequently silenced via epigenetic mechanisms, Hic1, can cooperate with loss of a gene mutated in GI cancer, Apc, to promote tumorigenesis in an in vivo model of multiple intestinal neoplasia.", "output": {"entities": {"gene": [{"text": "Hic1", "start": 94, "end": 98}], "disease": [{"text": "tumorigenesis", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Because multiple renal cysts have never been reported in DDS, we explored several genes responsible for these renal manifestations, such as HNF-1β, PAX2, PKD1, and PKD2.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 148, "end": 152}], "disease": [{"text": "multiple renal cysts", "start": 8, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate an altered functional state of PCNA protein in the ischemia-sensitive CA1 neurons suggesting that DNA repair processes are affected in these post-mitotic cells following ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 92, "end": 95}], "disease": [{"text": "ischemia", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the data in Cameroonian diabetes patients suggest the existence of HLA class II predisposing and specific protective markers, but do not support previous reports of a primary association between HLA-DP polymorphism and development of type I diabetes.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 210, "end": 216}], "disease": [{"text": "diabetes", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In this study, we sought to examine potential interactions between P22 (phox) genotypes, plasma vitamin E concentrations, and smoking in relation to CHD risk.", "output": {"entities": {"gene": [{"text": "P22", "start": 67, "end": 70}], "disease": [{"text": "smoking", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "LOX is a hypoxia-inducible amine oxidase, the activity of which enhances breast cancer cell invasion in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "LOX", "start": 0, "end": 3}], "disease": [{"text": "hypoxia", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The role of sonic hedgehog signaling in the development of neuroblastoma has not been thoroughly investigated.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 12, "end": 26}], "disease": [{"text": "neuroblastoma", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Repertoire alterations were more frequent in CD4-than in CD4 + cells and persisted despite undetectable viraemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 45, "end": 48}], "disease": [{"text": "viraemia", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Receiver operating characteristic curve analyses revealed that measurement of S100P in pancreatic juice was useful for discriminating neoplastic disease from chronic pancreatitis (area under the curve = 0. 837; 95% confidence interval, 0. 749-0. 903).", "output": {"entities": {"gene": [{"text": "S100P", "start": 78, "end": 83}], "disease": [{"text": "chronic pancreatitis", "start": 158, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Herein, we have tested the association of single nucleotide polymorphisms (SNPs) at TNF, IL10, MIF, DCSIGN, CLEC5A, NOD2, CCR5 and MRC1 as candidate genes using a matched case-control study design including 88 severe children cases of dengue patients and 335 healthy unrelated subjects that was also separated in IgG (+) and IgG (-) controls.", "output": {"entities": {"gene": [{"text": "NOD2", "start": 116, "end": 120}], "disease": [{"text": "dengue", "start": 235, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "We characterized the cellular localization and endoproteolysis of presenilin 2 (PS2) and presenilin 1 (PS1) in brains from 25 individuals with presenilin-mutations causing FAD, as well as neurologically normal individuals and individuals with sporadic Alzheimer' s disease (AD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 172, "end": 175}], "disease": [{"text": "sporadic", "start": 243, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we sought to test the hypothesis that pharmacological induction of insulin resistance in a mouse transgenic (TG) for human IAPP would induce islet amyloid and beta-cell dysfunction.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 145, "end": 149}], "disease": [{"text": "beta-cell dysfunction", "start": 181, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "However, immunoreactivities for these PGE (2) receptors increased in reactive glial cells in the vulnerable CA1 and hilar regions of rats subjected to lethal ischemia without ischemic preconditioning.", "output": {"entities": {"gene": [{"text": "CA1", "start": 108, "end": 111}], "disease": [{"text": "ischemia", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "TH2 pathway genes (IL13, TSLP, IL33, and IL1RL1) conferring asthma susceptibility were not associated with lung function.", "output": {"entities": {"gene": [{"text": "IL33", "start": 31, "end": 35}], "disease": [{"text": "asthma susceptibility", "start": 60, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "This finding suggests an important role of VEGF-A in the pathogenesis of airway scar formation and stenosis.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 43, "end": 49}], "disease": [{"text": "scar", "start": 80, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that androgen receptor regulation of adhesion and invasion of prostate cancer cells through modulation of alpha6beta4 integrin expression may be one of the molecular mechanisms responsible of this phenomenon.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 20, "end": 37}], "disease": [{"text": "adhesion", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Further studies revealed that ACRC, CLU, MEST, and NNAT were often hypermethylated in primary ES tumors.", "output": {"entities": {"gene": [{"text": "ACRC", "start": 30, "end": 34}], "disease": [{"text": "tumors", "start": 97, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Concomitant analysis of antiapoptotic proteins revealed that hypoxia induced expression of Bcl-2 and inhibitor of apoptosis proteins (IAP)-2 as well as proteins associated with anaerobic metabolism such as the glucose transporter protein GLUT-1 and the glycolytic enzyme Aldolase A.", "output": {"entities": {"gene": [{"text": "Aldolase A", "start": 271, "end": 281}], "disease": [{"text": "hypoxia", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "MCHR1 antagonists might find an additional usage in the treatment of anxiety and depression disorders.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 0, "end": 5}], "disease": [{"text": "depression", "start": 81, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 0, "end": 5}, "tail": {"text": "depression", "start": 81, "end": 91}}]}}, "schema": []}
{"input": "We have identified and analyzed 41 mutations in p53 in sporadic breast tumors from 136 unselected breast cancer patients and estimate that approximately 40% of such tumors contain p53 mutations.", "output": {"entities": {"gene": [{"text": "p53", "start": 48, "end": 51}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We screened all coding regions of the BCKDHA, BCKDHB and DBT genes for abnormalities using direct sequencing.", "output": {"entities": {"gene": [{"text": "DBT", "start": 57, "end": 60}], "disease": [{"text": "abnormalities", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking the gene for brain tryptophan hydroxylase 2 are devoid of brain 5HT and respond to METH in the same manner as wild-type controls, despite showing enhanced drug-induced hyperthermia.", "output": {"entities": {"gene": [{"text": "tryptophan hydroxylase 2", "start": 32, "end": 56}], "disease": [{"text": "hyperthermia", "start": 181, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tryptophan hydroxylase 2", "start": 32, "end": 56}, "tail": {"text": "hyperthermia", "start": 181, "end": 193}}]}}, "schema": []}
{"input": "Expression of ZNF396 in basal cell carcinoma.", "output": {"entities": {"gene": [{"text": "ZNF396", "start": 14, "end": 20}], "disease": [{"text": "basal cell carcinoma", "start": 24, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 94, "end": 103}], "disease": [{"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 94, "end": 103}, "tail": {"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}}]}}, "schema": []}
{"input": "PTPRK transcript levels were decreased in the primary tumours of patients who died from breast cancer or had metastases.", "output": {"entities": {"gene": [{"text": "PTPRK", "start": 0, "end": 5}], "disease": [{"text": "metastases", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We show for the first time that αvβ6 selectively induces matrix metalloproteinase 2 (MMP2) in vitro in multiple prostate cancer cells and promotes osteolysis in vivo in an immunodeficient mouse model of bone metastasis through upregulation of MMP2, but not MMP9.", "output": {"entities": {"gene": [{"text": "MMP9", "start": 257, "end": 261}], "disease": [{"text": "osteolysis", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We measured the prevalence of ANA and antibodies against DNA, RNP, Sm, SSA, and SSB as well as antilymphocyte antibodies (ALA) in the serum of 24 patients with childhood onset SLE and 94 of their first degree relatives and compared the prevalence of these same antibodies in 8 patients with adult onset SLE and 33 of their first degree relatives.", "output": {"entities": {"gene": [{"text": "ANA", "start": 30, "end": 33}], "disease": [{"text": "childhood onset", "start": 160, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Formalin-fixed paraffin-embedded PC before H/T and HRPC for each patient were stained for osteocalcin.", "output": {"entities": {"gene": [{"text": "osteocalcin", "start": 90, "end": 101}], "disease": [{"text": "PC", "start": 33, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "osteocalcin", "start": 90, "end": 101}, "tail": {"text": "PC", "start": 33, "end": 35}}]}}, "schema": []}
{"input": "Studies also indicate that inflammatory cytokines upregulate the serotonin transporter (SERT), representing another mechanism by which inflammation could influence serotonin availability.", "output": {"entities": {"gene": [{"text": "SERT", "start": 88, "end": 92}], "disease": [{"text": "inflammation", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.", "output": {"entities": {"gene": [{"text": "Max-interacting protein", "start": 12, "end": 35}], "disease": [{"text": "Miller-Dieker syndrome", "start": 146, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Max-interacting protein", "start": 12, "end": 35}, "tail": {"text": "Miller-Dieker syndrome", "start": 146, "end": 168}}]}}, "schema": []}
{"input": "Expression of pigmentation genes coding for tyrosinase, TRP-1 and TRP-2 correlated positively with that of EDNRB but negatively with EDNRA expression.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 107, "end": 112}], "disease": [{"text": "pigmentation", "start": 14, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The presence of both the ACE D and AT (1)-R C (1166) allele is associated with LV dilation with systolic dysfunction in genotyped HCM.", "output": {"entities": {"gene": [{"text": "ACE", "start": 25, "end": 28}], "disease": [{"text": "dilation", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To examine the possibility that hypermethylation serves as the second hit for FHIT inactivation, methylation of 5'-CpG islands of FHIT was analyzed by methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 78, "end": 82}], "disease": [{"text": "hit", "start": 70, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "One pathway regulates the association between disrupted-in-schizophrenia 1 (DISC1) and DISC1-binding zinc-finger protein via PACAP, and the other inhibits stathmin1 expression via PACAP.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 125, "end": 130}], "disease": [{"text": "schizophrenia 1", "start": 59, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "B * 5701 + and B5703 + donors demonstrate broad functional cross-reactivity to both common and rare variants of a dominant p24 epitope, which could be relevant to the association of B * 57 alleles with slow progression to AIDS.", "output": {"entities": {"gene": [{"text": "p24", "start": 123, "end": 126}], "disease": [{"text": "slow progression", "start": 202, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Using candidate gene identification based on prior biological knowledge and the functional prediction of rare variants, we identified several novel SQSTM1 mutations in patients with ALS.", "output": {"entities": {"gene": [{"text": "SQSTM1", "start": 148, "end": 154}], "disease": [{"text": "ALS", "start": 182, "end": 185}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SQSTM1", "start": 148, "end": 154}, "tail": {"text": "ALS", "start": 182, "end": 185}}]}}, "schema": []}
{"input": "We identified a KCNQ1 missense mutation, KCNQ1 G325R, in an asymptomatic patient presenting with significant QT prolongation (QTc, 448-600ms).", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 16, "end": 21}], "disease": [{"text": "asymptomatic", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Urine albumine/creatinine ratio (ACR), mean blood pressure (MBP) and index of glomerular filtration rate (GFR) based on S-creatinine were determined.", "output": {"entities": {"gene": [{"text": "ACR", "start": 33, "end": 36}], "disease": [{"text": "mean blood pressure", "start": 39, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "This case-control study examined the prevalence of a prothrombin gene mutation in the 3'-untranslated region (UTR) first reported by Poort et al in Dutch subjects with a history of venous thrombosis and in matched control subjects without a history of thrombosis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 110, "end": 113}], "disease": [{"text": "prothrombin gene mutation", "start": 53, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We found de novo heterozygous ITPR1 missense mutations in four unrelated patients with sporadic infantile-onset, nonprogressive cerebellar ataxia.", "output": {"entities": {"gene": [{"text": "ITPR1", "start": 30, "end": 35}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The methylation and mRNA expression of LATS1 and LATS2 may provide useful clues to the development of the diagnostic assays for astrocytoma.", "output": {"entities": {"gene": [{"text": "LATS2", "start": 49, "end": 54}], "disease": [{"text": "astrocytoma", "start": 128, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LATS2", "start": 49, "end": 54}, "tail": {"text": "astrocytoma", "start": 128, "end": 139}}]}}, "schema": []}
{"input": "Moreover, regardless of the 5T status, CFTR mutations appear not to be involved in female infertility.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 39, "end": 43}], "disease": [{"text": "female infertility", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of various members of the OPG/RANKL/RANK axis in patients with stable and unstable angina and in the atherosclerotic lesions of apolipoprotein E-deficient (apoE (-/-)) mice.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 155, "end": 171}], "disease": [{"text": "unstable angina", "start": 101, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "This is the first description of an EFT with a complete EWS deficiency in the presence of two copies of a rearranged chromosome 22 carrying an interstitial EWS-FLI1 translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 56, "end": 59}], "disease": [{"text": "translocation", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "In this study, we established and employed the transwell co-culture system of rabbit aortic endothelial cells and smooth muscle cells to explore the relationship between fibrin (Fb), fibrinogen (Fg), and/or their degradation products (FDPs) in relation to the instability of atherosclerotic plaques; meanwhile, we observed the effects of Fg, Fb, and FDPs on the mRNA levels of MMPs and VEGF as well as on the activation of nuclear factor-kappa B (NF-κB).", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 447, "end": 452}], "disease": [{"text": "fibrinogen", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We report a child with a 785kb deletion of the 3p14. 1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis.", "output": {"entities": {"gene": [{"text": "EIF4E3", "start": 92, "end": 98}], "disease": [{"text": "contractures", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "All HCC samples and ten patients with liver metastasis (52. 6%) exhibited APC promoter methylation.", "output": {"entities": {"gene": [{"text": "HCC", "start": 4, "end": 7}], "disease": [{"text": "liver metastasis", "start": 38, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Wnt5a induces ROR1/ROR2 heterooligomerization to enhance leukemia chemotaxis and proliferation.", "output": {"entities": {"gene": [{"text": "ROR2", "start": 19, "end": 23}], "disease": [{"text": "leukemia", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The occurrence of CHK2 mutations in sporadic cancers emphasizes the importance of the stress pathway which includes TP53.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 18, "end": 22}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The family study revealed GSH-S activity in both parents to be around half the normal level, a finding consistent with the presumed autosomal recessive mode of inheritance of this enzymopathy.", "output": {"entities": {"gene": [{"text": "GSH-S", "start": 26, "end": 31}], "disease": [{"text": "enzymopathy", "start": 180, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GSH-S", "start": 26, "end": 31}, "tail": {"text": "enzymopathy", "start": 180, "end": 191}}]}}, "schema": []}
{"input": "XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 0, "end": 5}], "disease": [{"text": "smoking", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Thus, an assembly defect of DDP1 is the molecular basis of Mohr-Tranebjaerg syndrome in patients carrying the C66W mutation.", "output": {"entities": {"gene": [{"text": "DDP1", "start": 28, "end": 32}], "disease": [{"text": "Mohr-Tranebjaerg syndrome", "start": 59, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DDP1", "start": 28, "end": 32}, "tail": {"text": "Mohr-Tranebjaerg syndrome", "start": 59, "end": 84}}]}}, "schema": []}
{"input": "This was confirmed after adjustment for BP, insulin resistance, high-sensitivity C-reactive protein, cotinine, gamma-glutamyl transferase, and reactive oxygen species.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 81, "end": 99}], "disease": [{"text": "insulin resistance", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Nuclear factor erythroid 2-related factor 2 (Nrf2)-a transcription factor that promotes the expression of numerous antioxidant, anti-inflammatory, and neuroprotective proteins-was identified as a candidate for confirmation of mRNA expression in hippocampal tissue from patients with temporal lobe epilepsy and in mice following pilocarpine-induced status epilepticus (SE).", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 45, "end": 49}], "disease": [{"text": "temporal lobe epilepsy", "start": 283, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "Secondary acute monocytic leukemia with a translocation t (8; 16) (p11; p13): case report and review of the literature.", "output": {"entities": {"gene": [{"text": "p11", "start": 67, "end": 70}], "disease": [{"text": "acute monocytic leukemia", "start": 10, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Increased synthesis of acute-phase proteins (APP) in the liver represents the most prominent aspect of acute phase reaction (APR).", "output": {"entities": {"gene": [{"text": "APP", "start": 45, "end": 48}], "disease": [{"text": "acute phase reaction", "start": 103, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The present study showed MLLT10 promiscuity in pediatric T-ALL and identified a specific MLLT10 signature within the HOXA subgroup.", "output": {"entities": {"gene": [{"text": "MLLT10", "start": 25, "end": 31}], "disease": [{"text": "T-ALL", "start": 57, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLLT10", "start": 25, "end": 31}, "tail": {"text": "T-ALL", "start": 57, "end": 62}}]}}, "schema": []}
{"input": "We investigated the molecular basis of hereditary coproporphyria in three unrelated patients, amplifying each exon of the coproporphyrinogen oxidase gene and performing heteroduplex analysis to look for mutations.", "output": {"entities": {"gene": [{"text": "coproporphyrinogen oxidase", "start": 122, "end": 148}], "disease": [{"text": "hereditary coproporphyria", "start": 39, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coproporphyrinogen oxidase", "start": 122, "end": 148}, "tail": {"text": "hereditary coproporphyria", "start": 39, "end": 64}}]}}, "schema": []}
{"input": "In comparison with the low frequencies of RADs in the general population (about 0. 83%, including systemic lupus erythematosus, 0. 03%; dermatomyositis, 0. 04%; juvenile rheumatoid arthritis, 0. 03%; ankylosing spondylitis, 0. 01%; rheumatoid arthritis, 0. 62%; and other RAD, 0. 1%), there were surprisingly high frequencies of such disorders in this small group of patients with untreated hypogonadism (P < 0. 001) and very low serum testosterone levels (P = 0. 0005).", "output": {"entities": {"gene": [{"text": "RAD", "start": 42, "end": 45}], "disease": [{"text": "hypogonadism", "start": 391, "end": 403}]}, "relations": {}}, "schema": []}
{"input": "Since sporadic colon carcinomas exhibit in 50-60% mutations in the p53 gene and in 10-15% an MSI phenotype due in the great majority of the cases to hMLH1 inactivation, we investigated how these lesions influence the cellular effects of CPT-11 by using colorectal carcinoma cell line HCT116 (which has the genotype p53 (+/+), hMLH1 (-)) and 2 derivative cell lines with the genotypes p53 (+/+), hMLH1 (+) and p53 (-/-), hMLH1 (-).", "output": {"entities": {"gene": [{"text": "p53", "start": 67, "end": 70}], "disease": [{"text": "sporadic", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Human c-Jun N-terminal kinase expression and activation in the nervous system.", "output": {"entities": {"gene": [{"text": "Jun N-terminal kinase", "start": 8, "end": 29}], "disease": [{"text": "nervous system", "start": 63, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These results add evidence supporting a role of LZTS1 in prostate cancer risk.", "output": {"entities": {"gene": [{"text": "LZTS1", "start": 48, "end": 53}], "disease": [{"text": "prostate cancer", "start": 57, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LZTS1", "start": 48, "end": 53}, "tail": {"text": "prostate cancer", "start": 57, "end": 72}}]}}, "schema": []}
{"input": "The different techniques to detect MET/HGF abnormalities are examined and a description of compounds targeting MET/HGF is also provided.", "output": {"entities": {"gene": [{"text": "HGF", "start": 39, "end": 42}], "disease": [{"text": "abnormalities", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46, XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.", "output": {"entities": {"gene": [{"text": "CYP19", "start": 35, "end": 40}], "disease": [{"text": "amenorrhea", "start": 167, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP19", "start": 35, "end": 40}, "tail": {"text": "amenorrhea", "start": 167, "end": 177}}]}}, "schema": []}
{"input": "We included 249 genotype C HBV infected patients: 39 asymptomatic carriers (AC), 68 with chronic hepatitis (CH), 75 with liver cirrhosis (LC), and 67 with HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 155, "end": 158}], "disease": [{"text": "chronic hepatitis", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Transcriptional up-regulation of RhoE by hypoxia-inducible factor (HIF)-1 promotes epithelial to mesenchymal transition of gastric cancer cells during hypoxia.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 33, "end": 37}], "disease": [{"text": "gastric cancer", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Myshkin mice (Myk/+) carry a heterozygous missense mutation in the neuronal Na (+), K (+)-ATPase & #945; 3 and model mania-related symptoms of bipolar disorder including increased activity, risk-taking behavior and reductions in sleep.", "output": {"entities": {"gene": [{"text": "ATPase", "start": 90, "end": 96}], "disease": [{"text": "bipolar disorder", "start": 143, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATPase", "start": 90, "end": 96}, "tail": {"text": "bipolar disorder", "start": 143, "end": 159}}]}}, "schema": []}
{"input": "We investigated the clinical significance of CD4 (+) CD25 (high) T regulatory (Treg) cells in hemophilia patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 45, "end": 48}], "disease": [{"text": "hemophilia", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to examine the association between the expression of insulin-like growth binding protein-1 and-2 (IGFBP1 and IGFBP2), insulin-like growth factor 2 mRNA binding protein 3/KH domain containing protein over-expressed in cancer (IGF2BP3/KOC1), and HtrA serine peptidase 1/serine protease with IGF-binding domain (HTRA1/PRSS11) genes and function of endoplasmic reticulum stress signaling mediated by ERN1 (endoplasmic reticulum to nucleus signaling 1) as well as the regulation of these genes by hypoxia in U87glioma cells.", "output": {"entities": {"gene": [{"text": "PRSS11", "start": 348, "end": 354}], "disease": [{"text": "hypoxia", "start": 525, "end": 532}]}, "relations": {}}, "schema": []}
{"input": "These data provide evidence that the proposed effect of MMP3 in the process of atherogenesis may be modified by the MMP3 genotype.", "output": {"entities": {"gene": [{"text": "MMP3", "start": 56, "end": 60}], "disease": [{"text": "atherogenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In vivo: liver tissues were obtained from 30 patients (10 chronic hepatitis, 7 cirrhosis, 13 HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 93, "end": 96}], "disease": [{"text": "chronic hepatitis", "start": 58, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "This study reveals sex-specific alterations in gene expression of the pre-synaptic 5-HT1D autoreceptors and 5-HT-related transcription factors, NUDR and REST, in DR neurons of women with MDD.", "output": {"entities": {"gene": [{"text": "NUDR", "start": 144, "end": 148}], "disease": [{"text": "MDD", "start": 187, "end": 190}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NUDR", "start": 144, "end": 148}, "tail": {"text": "MDD", "start": 187, "end": 190}}]}}, "schema": []}
{"input": "We investigated the relationship of polymorphisms in 6 cytokine genes associated with inflammation-interleukin (IL) 1alpha, IL1beta, IL2, IL6, tumor necrosis factor (TNF), and lymphotoxin alpha (LTA)-with spontaneous preterm and SGA birth in a nested case-control study drawn from a prospective pregnancy cohort.", "output": {"entities": {"gene": [{"text": "IL2", "start": 133, "end": 136}], "disease": [{"text": "inflammation", "start": 86, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase and tensin homologue deleted on chromosome 10), also referred to as MMAC1 (mutated in multiple advanced cancers) gene was recently identified as a putative tumor suppressor in a variety of malignant tumors.", "output": {"entities": {"gene": [{"text": "tensin", "start": 22, "end": 28}], "disease": [{"text": "cancers", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Plasma APOA5 concentration was measured by ELISA in 215 subjects with type 2 diabetes, who were taken from the Diabetes Atorvastatin Lipid-lowering Intervention (DALI) study, a 30-week randomised, double-blind, placebo-controlled study, and given atorvastatin 10 mg or 80 mg daily.", "output": {"entities": {"gene": [{"text": "DALI", "start": 162, "end": 166}], "disease": [{"text": "blind", "start": 204, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that TNFR2 has a protective role in TNF-α-induced bone resorption.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 24, "end": 29}], "disease": [{"text": "bone resorption", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Three of 20 patients with juvenile osteoporosis were found to have a heterozygous mutation in the LRP5 gene.", "output": {"entities": {"gene": [{"text": "LRP5 gene", "start": 98, "end": 107}], "disease": [{"text": "juvenile osteoporosis", "start": 26, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation.", "output": {"entities": {"gene": [{"text": "INPP5E", "start": 0, "end": 6}], "disease": [{"text": "Joubert syndrome", "start": 54, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "INPP5E", "start": 0, "end": 6}, "tail": {"text": "Joubert syndrome", "start": 54, "end": 70}}]}}, "schema": []}
{"input": "Lateralised morphological abnormalities of the hippocampal formation in FES and left TLE are comparable, and may be specific to temporolimbic regions.", "output": {"entities": {"gene": [{"text": "FES", "start": 72, "end": 75}], "disease": [{"text": "abnormalities", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Myeloproliferative neoplasms associated with FIP1L1-PDGFR rearrangements represent a rare subset of myeloid and lymphoid malignancies, characterised by the presence of eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 genes.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 202, "end": 208}], "disease": [{"text": "abnormalities", "start": 185, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Conversely, chloroquine-treated VCPR155H/+ mice revealed progressive muscle weakness, cytoplasmic accumulation of TDP-43, ubiquitin-positive inclusion bodies and increased LC3-I/II, p62/SQSTM1, and optineurin expression levels.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 114, "end": 120}], "disease": [{"text": "progressive muscle weakness", "start": 57, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.", "output": {"entities": {"gene": [{"text": "ITGA8", "start": 65, "end": 70}], "disease": [{"text": "ovarian cancers", "start": 11, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITGA8", "start": 65, "end": 70}, "tail": {"text": "ovarian cancers", "start": 11, "end": 26}}]}}, "schema": []}
{"input": "Only MRZ increased the proteasome substrate p27 in orthotopic brain tumors after a single injection, while both MRZ and BTZ increased p21 levels after multiple treatments.", "output": {"entities": {"gene": [{"text": "BTZ", "start": 120, "end": 123}], "disease": [{"text": "brain tumors", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Five novel factor IX mutations in unrelated hemophilia B patients.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 11, "end": 20}], "disease": [{"text": "hemophilia B", "start": 44, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 11, "end": 20}, "tail": {"text": "hemophilia B", "start": 44, "end": 56}}]}}, "schema": []}
{"input": "Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 27, "end": 36}], "disease": [{"text": "epidermolytic hyperkeratosis", "start": 45, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 27, "end": 36}, "tail": {"text": "epidermolytic hyperkeratosis", "start": 45, "end": 73}}]}}, "schema": []}
{"input": "In order to relate HLA-DRB1 alleles to disease aggressiveness, patients with relapsing remitting MS and secondary progressive MS were subdivided into 3 groups:' benign' MS patients who maintain an Extended Disability Status Scale (EDSS) score of < or = 3 at least 10 years after disease onset; non-benign MS patients with EDSS > 3 after the same period and' aggressive' MS those with EDSS > or = 6 within 15 years of disease onset.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 19, "end": 27}], "disease": [{"text": "aggressiveness", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.", "output": {"entities": {"gene": [{"text": "UBA1", "start": 124, "end": 128}], "disease": [{"text": "SMAX2", "start": 77, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBA1", "start": 124, "end": 128}, "tail": {"text": "SMAX2", "start": 77, "end": 82}}]}}, "schema": []}
{"input": "A panel of pancreas development genes, including GCK, Kir6. 2, PTF1A, PDX-1, HNF-1A, NgN3, SOX17, SOX7, SOX9, INS, HNF1-B and SUR1 plus the GATA4 gene, were screened for characterization of pancreatic agenesis and cardiac defect.", "output": {"entities": {"gene": [{"text": "PDX-1", "start": 70, "end": 75}], "disease": [{"text": "cardiac defect", "start": 214, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.", "output": {"entities": {"gene": [{"text": "ATP13A2", "start": 70, "end": 77}], "disease": [{"text": "Kufor-Rakeb syndrome", "start": 21, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP13A2", "start": 70, "end": 77}, "tail": {"text": "Kufor-Rakeb syndrome", "start": 21, "end": 41}}]}}, "schema": []}
{"input": "Hcrtr1 and 2 signaling differentially regulates depression-like behaviors.", "output": {"entities": {"gene": [{"text": "Hcrtr1", "start": 0, "end": 6}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hcrtr1", "start": 0, "end": 6}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "Two MRI studies indicate the neural basis for language impairment in epilepsy.", "output": {"entities": {"gene": [{"text": "MRI", "start": 4, "end": 7}], "disease": [{"text": "epilepsy", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The severity of HDB was classified into normal, mild, moderate and severe grades (marked as 0 to III), according to the degree of hyperplasia in the mammary gland.", "output": {"entities": {"gene": [{"text": "HDB", "start": 16, "end": 19}], "disease": [{"text": "mild", "start": 48, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Glomuvenous malformations (MIM 138000) are rare vascular malformations consisting of glomus cells, and in affected individuals, lesions may appear in any number anywhere on the body.", "output": {"entities": {"gene": [{"text": "MIM", "start": 27, "end": 30}], "disease": [{"text": "vascular malformations", "start": 48, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We used high resolution mate-pair sequencing (HRMPS) in 15 patients with primary myelofibrosis (PMF): eight with normal karyotype and seven with PMF-characteristic cytogenetic abnormalities, including der (6) t (1; 6) (q21-23; p21. 3) (n = 4), der (7) t (1; 7) (q10; p10) (n = 2), del (20) (q11. 2q13. 3) (n = 3), and complex karyotype (n = 1).", "output": {"entities": {"gene": [{"text": "p10", "start": 267, "end": 270}], "disease": [{"text": "primary myelofibrosis", "start": 73, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Studies have been published examining KIR gene associations with birdshot chorioretinopathy (BCR), Vogt-Koyanagi-Harada (VKH) disease, and HLA-B27-associated acute anterior uveitis (AAU) and axial spondyloarthropathy.", "output": {"entities": {"gene": [{"text": "BCR", "start": 93, "end": 96}], "disease": [{"text": "birdshot chorioretinopathy", "start": 65, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Case-control and within-family tests for an association between conduct disorder and DAT1.", "output": {"entities": {"gene": [{"text": "DAT1", "start": 85, "end": 89}], "disease": [{"text": "conduct disorder", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In summary, we have demonstrated that the expression of exogenous RCAN1 reduces migration and alters adhesion; and that the loss of endogenous RCAN1 leads to an increase in migration in the examined cancer cell lines.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 66, "end": 71}], "disease": [{"text": "adhesion", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Lysyl oxidase is known to play an important role in hypoxia-dependent cancer cell dissemination and metastasis.", "output": {"entities": {"gene": [{"text": "Lysyl oxidase", "start": 0, "end": 13}], "disease": [{"text": "hypoxia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.", "output": {"entities": {"gene": [{"text": "PAK7", "start": 20, "end": 24}], "disease": [{"text": "psychosis", "start": 76, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAK7", "start": 20, "end": 24}, "tail": {"text": "psychosis", "start": 76, "end": 85}}]}}, "schema": []}
{"input": "Apolipoprotein E polymorphism is not associated with spinal bone mineral density in peri-and postmenopausal Greek women.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 0, "end": 16}], "disease": [{"text": "bone mineral density", "start": 60, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In this study we probed SP110 variants in pulmonary (PTB) and lymph node tuberculosis (LNTB) cases to explore their role in controlling susceptibility to Mycobacterium tuberculosis infection in north Indians.", "output": {"entities": {"gene": [{"text": "PTB", "start": 53, "end": 56}], "disease": [{"text": "lymph node tuberculosis", "start": 62, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The category \" AML with myelodysplastic syndrome (MDS)-related changes \" (AML-MRC) is separated from \" AML not otherwise specified \" (AML-NOS) by presence of MLD, MDS-related cytogenetics, or history of MDS or MDS/myeloproliferative neoplasm (MPN).", "output": {"entities": {"gene": [{"text": "MRC", "start": 78, "end": 81}], "disease": [{"text": "myeloproliferative neoplasm", "start": 214, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "By FC analysis, 19/20 T-LGL leukaemia cases were CD3 + CD8 + and one case was CD3 + CD4 +.", "output": {"entities": {"gene": [{"text": "CD4", "start": 84, "end": 87}], "disease": [{"text": "leukaemia", "start": 28, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Thus, overall, mice with targeted mutation of the BDNF gene exhibited increased spontaneous locomotion and increased response to acute amphetamine, altered response to chronic cocaine, increased aggression, increase in risk-taking behavior, as demonstrated by time spent in the center of an open field, and changes in eating patterns.", "output": {"entities": {"gene": [{"text": "BDNF gene", "start": 50, "end": 59}], "disease": [{"text": "aggression", "start": 195, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "After 28 weeks, both MT-IGF mice and wild-type littermates gained comparable 40-57% of body weight, with similar increases in fat masses; all mice maintained a normal sensitivity to insulin and did not become severely hyperglycemic.", "output": {"entities": {"gene": [{"text": "IGF", "start": 24, "end": 27}], "disease": [{"text": "body weight", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The EARS II study was undertaken to investigate whether a paternal history of CHD was associated with differences in postprandial lipemia.", "output": {"entities": {"gene": [{"text": "EARS", "start": 4, "end": 8}], "disease": [{"text": "lipemia", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Three EGFR [-216G/T (rs712830),-191A/C (rs712829), 497R > K (A/G) (rs2227983)], one EGF [61A/G, (rs4444903)] and one TGFA (rs3821262C/T) polymorphisms previously demonstrated to alter gene functions were genotyped in 229 sporadic idiopathic ILD patients and 693 normal healthy individuals.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 6, "end": 10}], "disease": [{"text": "sporadic", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Treatment of HCMEC with IL-18 increases 1) NF-kappaB DNA binding activity; 2) induces kappaB-driven luciferase activity; 3) induces IL-1beta and TNF-alpha expression via NF-kappaB activation; 4) inhibits antiapoptotic Bcl-2 and Bcl-X (L); 5) up-regulates proapoptotic Fas, Fas-L, and Bcl-X (S) expression; 6) induces fas and Fas-L promoter activities via NF-kappaB activation; 7) activates caspases-8,-3,-9, and BID; 8) induces cytochrome c release into the cytoplasm; 9) inhibits FLIP; and 10) induces HCME cell death by apoptosis as seen by increased annexin V staining and increased levels of mono-and oligonucleosomal fragmented DNA.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 428, "end": 440}], "disease": [{"text": "fas", "start": 317, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "CD8 T cells mediate direct biliary ductule damage in nonobese diabetic autoimmune biliary disease.", "output": {"entities": {"gene": [{"text": "CD8", "start": 0, "end": 3}], "disease": [{"text": "biliary disease", "start": 82, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Further, the strength of these associations increased after removing the SQ component from HSI and FTND scores in both the EA and AA samples, suggesting that ARRB1 and ARRB2 play an important role in biological processes involved in the regulation of smoking urgency (that is time to smoke first cigarette).", "output": {"entities": {"gene": [{"text": "ARRB2", "start": 168, "end": 173}], "disease": [{"text": "smoking", "start": 251, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that VKORC1-dependent effects on the coagulation cascade and atherosclerosis would contribute to susceptibility for vascular diseases.", "output": {"entities": {"gene": [{"text": "VKORC1", "start": 21, "end": 27}], "disease": [{"text": "vascular diseases", "start": 132, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VKORC1", "start": 21, "end": 27}, "tail": {"text": "vascular diseases", "start": 132, "end": 149}}]}}, "schema": []}
{"input": "Neutralisation of IL-1 & #946; attenuated the silica-induced inflammatory response of the heart and kidney and decreased fibrosis in the mouse kidney.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 18, "end": 22}], "disease": [{"text": "fibrosis", "start": 121, "end": 129}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1", "start": 18, "end": 22}, "tail": {"text": "fibrosis", "start": 121, "end": 129}}]}}, "schema": []}
{"input": "Because the mutation has been reported to be rare in Caucasian early-onset FAD and to be absent in Caucasian late-onset FAD and sporadic AD, the situation of this mutation in Alzheimer' s disease may be common beyond the ethnic background.", "output": {"entities": {"gene": [{"text": "FAD", "start": 75, "end": 78}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "IFN α receptor (IFNAR) knock-out (KO) mice exhibited increased mortality and morbidity with higher viral load after infection with influenza virus A/FM/1/47 (H1N1, a mouse-adapted strain) compared with wild-type (WT) mice, though the viruses were finally eliminated in both groups.", "output": {"entities": {"gene": [{"text": "IFNAR", "start": 16, "end": 21}], "disease": [{"text": "viral load", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Hereditary primary adrenal insufficiency syndromes due to ACTH resistance include hereditary glucocorticoid deficiency (HGD) and Allgrove' s syndrome (AS).", "output": {"entities": {"gene": [{"text": "HGD", "start": 120, "end": 123}], "disease": [{"text": "primary adrenal insufficiency", "start": 11, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The prolonged excretion of blood in stool driven by inflammatory process which causes iron metabolism disorder and anemia may elucidate the inverse correlation between hemoglobin and IL-17 serum levels in UC patients.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 183, "end": 188}], "disease": [{"text": "iron metabolism disorder", "start": 86, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Hence, we compared the cytomorphology of metastatic KRAS-AD and EGFR-positive adenocarcinoma (EGFR-AD) in aspiration specimens from lymph nodes.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 64, "end": 68}], "disease": [{"text": "aspiration", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Our data confirm a substantial activation of BAL CD4 (+) T cells of patients with sarcoidosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 49, "end": 52}], "disease": [{"text": "sarcoidosis", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Morphological studies in tvrm5 mice demonstrated increased cell shedding and the presence of large multinucleated RPE cells, suggesting defects in intercellular adhesion and cytokinesis.", "output": {"entities": {"gene": [{"text": "RPE", "start": 114, "end": 117}], "disease": [{"text": "adhesion", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha-308 A allele might interact with smoking to enhance susceptibility to nodular CWP.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 0, "end": 9}], "disease": [{"text": "smoking", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Serum TGF beta 1 levels were higher in HCC than in chronic hepatitis (p < 0. 05).", "output": {"entities": {"gene": [{"text": "HCC", "start": 39, "end": 42}], "disease": [{"text": "chronic hepatitis", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "TA levels and hTERT mRNA were higher in HCC compared with chronic hepatitis (P < 0. 001) and normal livers (P < 0. 001).", "output": {"entities": {"gene": [{"text": "HCC", "start": 40, "end": 43}], "disease": [{"text": "chronic hepatitis", "start": 58, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Western blotting and immunohistochemistry of these cells indicated a fall in the expression level of E-cadherin and an increase in fibronectin expression after 48 h. PAR1 activation also induced significant increases in nuclear levels of the Snail which is a repressor of E-cadherin gene expression.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 101, "end": 111}], "disease": [{"text": "fall", "start": 69, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Effects of electroacupuncture on bone mineral density, oestradiol level and osteoprotegerin ligand expression in ovariectomised rabbits.", "output": {"entities": {"gene": [{"text": "osteoprotegerin ligand", "start": 76, "end": 98}], "disease": [{"text": "bone mineral density", "start": 33, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that the genetic information about GRL would be useful for further genetic study of obesity, diabetes, and related metabolic diseases.", "output": {"entities": {"gene": [{"text": "GRL", "start": 51, "end": 54}], "disease": [{"text": "obesity", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "After more than 10 years of control of infection, plasma viremia increased progressively, with a concomitant loss of CD4 (+) T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 117, "end": 120}], "disease": [{"text": "viremia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We suggest testing for ALG1 mutations in unsolved CDG patients with a type 1 transferrin isoelectric focusing pattern, especially with epilepsy, severe visual loss and hemorrhagic/thrombotic events.", "output": {"entities": {"gene": [{"text": "ALG1", "start": 23, "end": 27}], "disease": [{"text": "epilepsy", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The mRNA and protein expression of NKG2D ligands, MHC class I-related chain molecules A (MICA) and UL16-binding proteins (ULBPs), in human laryngeal carcinoma cell line Hep-2 and fresh tumour tissues were evaluated.", "output": {"entities": {"gene": [{"text": "MICA", "start": 89, "end": 93}], "disease": [{"text": "laryngeal carcinoma", "start": 139, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "A lesion induced by 6-OHDA produced more severe motor deterioration in CB1 KO mice accompanied by more loss of DA neurons and increased PENK gene expression in the CPu.", "output": {"entities": {"gene": [{"text": "CB1", "start": 71, "end": 74}], "disease": [{"text": "motor deterioration", "start": 48, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Transfection of T98G cells with AKT3 or PI3KCA siRNA and exposure to TMZ and BCNU led to a significant reduction in cell viability, accumulation of subG1-phase cells, and reduction of cells in the S and G2/M phases, as well as induction of apoptosis or necrosis, and regulation of autophagy.", "output": {"entities": {"gene": [{"text": "AKT3", "start": 32, "end": 36}], "disease": [{"text": "necrosis", "start": 253, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "The suspicion of prenatal meconium ileus syndrome was raised in a pregnancy in a family with no history of cystic fibrosis because of significantly higher maternal serum alpha-fetoprotein in the 16th and 19th week of gestation, dispersed areas with increased echogenity in the fetal abdomen, slight fetal ascites in the 24th-25th weeks of gestation, decreased amniotic fluid gamma-glutamyltranspeptidase (GGT) activity and alpha-fetoprotein level in the 25th-26th weeks, and normal 46, XY karotype of the fetus.", "output": {"entities": {"gene": [{"text": "GGT", "start": 405, "end": 408}], "disease": [{"text": "cystic fibrosis", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Magnetic Resonance Imaging in living mice showed that the in vivo pharmacological or biotechnological knock down of GPR17 markedly prevents brain infarct evolution, suggesting GPR17 as a mediator of neuronal death at this early ischemic stage.", "output": {"entities": {"gene": [{"text": "GPR17", "start": 116, "end": 121}], "disease": [{"text": "brain infarct", "start": 140, "end": 153}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GPR17", "start": 116, "end": 121}, "tail": {"text": "brain infarct", "start": 140, "end": 153}}]}}, "schema": []}
{"input": "As a molecular marker of oxidative stress, increased COX-2 expression was noted in 17 of 18 (94%) TCCs, 4 of 4 (100%) papillomas, and 39 of 47 (83%) PN hyperplasias.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 53, "end": 58}], "disease": [{"text": "papillomas", "start": 118, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 53, "end": 58}, "tail": {"text": "papillomas", "start": 118, "end": 128}}]}}, "schema": []}
{"input": "Through expanded whole exome sequencing, we identified a novel genetic substrate for TS, p. Ile1166Thr-CACNA1C.", "output": {"entities": {"gene": [{"text": "CACNA1C", "start": 103, "end": 110}], "disease": [{"text": "TS", "start": 85, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1C", "start": 103, "end": 110}, "tail": {"text": "TS", "start": 85, "end": 87}}]}}, "schema": []}
{"input": "Of the SNPs examined, none of them exhibited statistically significant association with ACR after accounting for the effect of age, sex, diabetes, duration of diabetes, systolic blood pressure and anti-hypertensive medications.", "output": {"entities": {"gene": [{"text": "ACR", "start": 88, "end": 91}], "disease": [{"text": "systolic blood pressure", "start": 169, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Elevated expression of GLO1 was significantly associated with gastric wall invasion, lymph node metastasis, and pathological stage, suggesting a novel role of GLO1 in gastric cancer development and progression.", "output": {"entities": {"gene": [{"text": "GLO1", "start": 23, "end": 27}], "disease": [{"text": "lymph node metastasis", "start": 85, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The effect of the LEP genotypes on leptin concentration and on the slopes of the weight and body mass index (BMI) Z-score curves before and after the onset of risperidone treatment was investigated.", "output": {"entities": {"gene": [{"text": "LEP", "start": 18, "end": 21}], "disease": [{"text": "weight", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Whereas in sporadic human malignancies mutations of the TP53 tumor-suppressor gene occur in cancers of almost every organ and histologic subtype, patients with an inborn TP53 defect are at high risk to develop, in particular, soft tissue and bone sarcomas, brain tumors, leukaemias, adrenocortical tumors, and breast cancer.", "output": {"entities": {"gene": [{"text": "TP53", "start": 56, "end": 60}], "disease": [{"text": "sporadic", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Here, we further studied an additional 5 FA patients for sequence alterations of the FANCA gene and found pathogenic mutations in 2 of them.", "output": {"entities": {"gene": [{"text": "FANCA", "start": 85, "end": 90}], "disease": [{"text": "FA", "start": 41, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FANCA", "start": 85, "end": 90}, "tail": {"text": "FA", "start": 41, "end": 43}}]}}, "schema": []}
{"input": "Pituitary tumour transforming gene (PTTG) encodes a multifunctional protein that is implicated in initiating and perpetuating pituitary adenoma growth.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 36, "end": 40}], "disease": [{"text": "pituitary adenoma", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To examine the hypothesis that abnormal cell-cycle regulators act as the mutators contributing to genomic instability, the present study, based on primary tumor tissues from 71 patients with breast cancer, was performed to determine whether there was an association between aberrant expression of cell-cycle regulators (cyclin A, cyclin D1, cyclin E, RB1, p21, and p27) and chromosomal instability.", "output": {"entities": {"gene": [{"text": "p21", "start": 356, "end": 359}], "disease": [{"text": "genomic instability", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In all patients we analyzed activated factor VIII: C, fibrinogen, antithrombin (AT), protein C (PC), protein S (PS), activated PC resistance, and homocysteine.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 38, "end": 49}], "disease": [{"text": "fibrinogen", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "MCM5, MCM7, and RAD9 are overexpressed in malignant thyroid neoplasms of follicular cell origin.", "output": {"entities": {"gene": [{"text": "MCM5", "start": 0, "end": 4}], "disease": [{"text": "thyroid neoplasms", "start": 52, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Two human glioma cell lines, U87 and U251, were transfected with Ad5F35-IL24 via recombinant adenovirus-mediated gene transfer and apoptosis, as well as PKR and eIF-2α expression analyzed.", "output": {"entities": {"gene": [{"text": "PKR", "start": 153, "end": 156}], "disease": [{"text": "adenovirus", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "IGF-II and IGFBP-3 serum levels were associated with increases in the mammographically lucent area in both premenopausal (P (t) = 0. 01 and 0. 04, respectively) and postmenopausal women (P (t) < 0. 001 for both), but these associations were no longer statistically significant after adjustment for body mass index and waist circumference.", "output": {"entities": {"gene": [{"text": "IGF-II", "start": 0, "end": 6}], "disease": [{"text": "body mass index", "start": 298, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.", "output": {"entities": {"gene": [{"text": "SOS2", "start": 31, "end": 35}], "disease": [{"text": "Noonan syndrome", "start": 63, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOS2", "start": 31, "end": 35}, "tail": {"text": "Noonan syndrome", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "These data indicate that glomerular ET-1 and ETB receptor expression in PAN nephrosis in increased at the mRNA level and that methylprednisolone treatment results in an attenuated increase.", "output": {"entities": {"gene": [{"text": "ETB", "start": 45, "end": 48}], "disease": [{"text": "nephrosis", "start": 76, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ETB", "start": 45, "end": 48}, "tail": {"text": "nephrosis", "start": 76, "end": 85}}]}}, "schema": []}
{"input": "In portal-systemic encephalopathy resulting from chronic liver failure, astrocytes manifest altered expression of several key proteins and enzymes including monoamine oxidase B, glutamine synthetase, and the so-called peripheral-type benzodiazepine receptors.", "output": {"entities": {"gene": [{"text": "glutamine synthetase", "start": 178, "end": 198}], "disease": [{"text": "portal-systemic encephalopathy", "start": 3, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutamine synthetase", "start": 178, "end": 198}, "tail": {"text": "portal-systemic encephalopathy", "start": 3, "end": 33}}]}}, "schema": []}
{"input": "ACEI and ARB treatment prevents ventricular remodeling by inhibiting expression of Smad 2 and Smad 3.", "output": {"entities": {"gene": [{"text": "Smad 3", "start": 94, "end": 100}], "disease": [{"text": "ventricular remodeling", "start": 32, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Smad 3", "start": 94, "end": 100}, "tail": {"text": "ventricular remodeling", "start": 32, "end": 54}}]}}, "schema": []}
{"input": "To characterize EGF gene expression in the pathogenesis of regenerative cirrhotic fibrosis, we employed biotinylated antisense oligonucleotide probes to localize hepatic mRNA transcripts in situ.", "output": {"entities": {"gene": [{"text": "EGF gene", "start": 16, "end": 24}], "disease": [{"text": "fibrosis", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In consequence, the inability of cells with a surplus of RAD51 to properly repair complex DNA damage and to resolve replication stress leads to higher genomic instability and thus drives tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 57, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether mutations within the human COL10A1 gene were responsible for causing the disorders achondroplasia, hypochondroplasia, pseudoachondroplasia, and thanatophoric dysplasia, by analyzing the coding regions of the gene by using PCR and the single-stranded conformational polymorphism technique.", "output": {"entities": {"gene": [{"text": "COL10A1 gene", "start": 51, "end": 63}], "disease": [{"text": "hypochondroplasia", "start": 123, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Compared to sporadic AD, Swedish FAD showed a significant increase in GSSG levels and the GSSG/2GSH ratio in the FIC, SPCC and OPC.", "output": {"entities": {"gene": [{"text": "FAD", "start": 33, "end": 36}], "disease": [{"text": "sporadic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.", "output": {"entities": {"gene": [{"text": "F11", "start": 54, "end": 57}], "disease": [{"text": "factor XI deficiency", "start": 105, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "F11", "start": 54, "end": 57}, "tail": {"text": "factor XI deficiency", "start": 105, "end": 125}}]}}, "schema": []}
{"input": "Furthermore, deletion of STAT3 in the brain endothelium also resulted in attenuated fever.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 25, "end": 30}], "disease": [{"text": "fever", "start": 84, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT3", "start": 25, "end": 30}, "tail": {"text": "fever", "start": 84, "end": 89}}]}}, "schema": []}
{"input": "In this study, the therapeutic efficacy of parvovirus-mediated delivery of three distinct cyto/chemokines (Il-2, MCP-3/CCL7 and IP-10/CXCL10) was evaluated in xenograft models of human PDAC.", "output": {"entities": {"gene": [{"text": "CXCL10", "start": 134, "end": 140}], "disease": [{"text": "parvovirus", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Using the isolated rat heart, we found that the reduction of left ventricular pressure (LVP), rate-pressure product, and maximal values of the first derivative of LVP elicited by hrSTA-CgA (1-78) at 33 nM is abolished by blocking G (i/o) proteins with pertussis toxin, scavenging NO with hemoglobin, and blocking NOS activity with N (G)-monomethyl-l-arginine or N (5)-(iminoethyl)-l-ornithine, soluble guanylate cyclase with 1H-[1, 2, 4] oxadiazole-[4, 4-a] quinoxalin-1-one, and protein kinase (PKG) with KT5823.", "output": {"entities": {"gene": [{"text": "PKG", "start": 496, "end": 499}], "disease": [{"text": "hemoglobin", "start": 288, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "The role of A2350G polymorphism in exon 17 of the ACE gene and A1166C-in 3'-UTR of the AGTR1 in the pathogenesis of left ventricular hypertrophy was studied in patients with essential hypertension (EH) and arterial hypertension combined with diabetes mellitus type 2 (AH + DM2).", "output": {"entities": {"gene": [{"text": "UTR", "start": 76, "end": 79}], "disease": [{"text": "left ventricular hypertrophy", "start": 116, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that passive and active smoking may be related to breast cancer, and the effect may be differentially modified by NAT2 phenotype.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 137, "end": 141}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In case 3, a dir ins (18; 5) (q21. 3; p13. 1p14) was associated with spontaneous abortions, in case 4, the proband with mental retardation, microcephaly, and a heart defect showed a pure trisomy of (12) (q13--> q15), which had segregated from a carrier of an ins (18; 12) (p11. 3; q13q15).", "output": {"entities": {"gene": [{"text": "p11", "start": 273, "end": 276}], "disease": [{"text": "heart defect", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that K13 upregulates the expression of a number of NF-κB responsive genes involved in cytokine signaling, cell death, adhesion, inflammation and immune response, including two NF-κB subunits involved in the alternate NF-κB pathway, RELB and NFKB2.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 66, "end": 71}], "disease": [{"text": "adhesion", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We speculate that indomethacin stimulates circulating arginine vasopressin levels and enhances peripheral arginine vasopressin effects in the fetus, resulting in oliguria and hypertension.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 54, "end": 74}], "disease": [{"text": "oliguria", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Cox proportional hazards model and backward stepwise elimination were used to compute hazard ratio (HR) of deaths according to CDK8 status, initially adjusted for various patient and molecular features, including beta-catenin, p53, p21, p27 (CDK inhibitors), cyclin D1, fatty acid synthase (FASN), cyclooxygenase-2 (COX-2), microsatellite instability (MSI), CpG island methylator phenotype (CIMP), LINE-1 methylation, and mutations in KRAS, BRAF and PIK3CA.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 259, "end": 268}], "disease": [{"text": "microsatellite instability", "start": 324, "end": 350}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to analyze P-cadherin expression in invasive breast cancer and to correlate it with tumor markers, pathologic features, and patient survival.", "output": {"entities": {"gene": [{"text": "P-cadherin", "start": 28, "end": 38}], "disease": [{"text": "invasive breast cancer", "start": 53, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We concluded that in ART-treated individuals, higher levels of gut-associated HIV-DNA are associated with persistent immune activation and microbial translocation.", "output": {"entities": {"gene": [{"text": "ART", "start": 21, "end": 24}], "disease": [{"text": "translocation", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "However, both SM22alpha; TRE-Cre; R26R; Bmpr1a (flox/+) and flox/flox mutant mice had fewer muscularized distal pulmonary arteries and attenuated loss of peripheral pulmonary arteries compared with age-matched control littermates in hypoxia.", "output": {"entities": {"gene": [{"text": "TRE", "start": 25, "end": 28}], "disease": [{"text": "hypoxia", "start": 233, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "alpha 1-antitrypsin (alpha 1-A. T.) phenotypes were determined in 55 patients with rheumatoid arthritis (R. A.), 33 patients with R. A. and either obstructive airways disease or recurrent chest infections, 49 patients with fibrosing alveolitis (F. A.), 22 patients with R. A. and F. A., and 200 healthy controls.", "output": {"entities": {"gene": [{"text": "alpha 1-antitrypsin", "start": 0, "end": 19}], "disease": [{"text": "fibrosing alveolitis", "start": 223, "end": 243}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 1-antitrypsin", "start": 0, "end": 19}, "tail": {"text": "fibrosing alveolitis", "start": 223, "end": 243}}]}}, "schema": []}
{"input": "Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 17, "end": 38}], "disease": [{"text": "Hunter syndrome", "start": 68, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 17, "end": 38}, "tail": {"text": "Hunter syndrome", "start": 68, "end": 83}}]}}, "schema": []}
{"input": "Adiponectin is an adipocyte-derived protein that acts to reduce insulin resistance in the liver and muscle and also inhibits atherosclerosis.", "output": {"entities": {"gene": [{"text": "Adiponectin", "start": 0, "end": 11}], "disease": [{"text": "atherosclerosis", "start": 125, "end": 140}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Adiponectin", "start": 0, "end": 11}, "tail": {"text": "atherosclerosis", "start": 125, "end": 140}}]}}, "schema": []}
{"input": "Blood samples from 12 patients with ductal carcinoma in situ, 133 patients with invasive breast cancer, 20 patients with hematological malignancies, 31 healthy volunteers, and tumor tissues from 40 patients with invasive breast cancer were screened for mRNA encoding hMAM, EGF-R, or CK-19 by nested RT-PCR.", "output": {"entities": {"gene": [{"text": "EGF", "start": 273, "end": 276}], "disease": [{"text": "ductal carcinoma in situ", "start": 36, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.", "output": {"entities": {"gene": [{"text": "GABRA4", "start": 57, "end": 63}], "disease": [{"text": "autism", "start": 100, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA4", "start": 57, "end": 63}, "tail": {"text": "autism", "start": 100, "end": 106}}]}}, "schema": []}
{"input": "The studies described in this report suggest that cisplatin-induced ototoxicity and cochlear uptake can be modulated by administration of a CTR1 inhibitor, copper sulfate.", "output": {"entities": {"gene": [{"text": "CTR1", "start": 140, "end": 144}], "disease": [{"text": "ototoxicity", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "cardiomyopathy", "start": 248, "end": 262}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "cardiomyopathy", "start": 248, "end": 262}}]}}, "schema": []}
{"input": "Quantitative analysis of normal and diabetic porcine retinas reveals that while the expression levels of ADA2, A2AAR, ENT1, TNF-α and MMP9 are increased, the levels of AK are reduced during inflammation as an endogenous protective mechanism.", "output": {"entities": {"gene": [{"text": "ENT1", "start": 118, "end": 122}], "disease": [{"text": "inflammation", "start": 190, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Therefore, TGFbeta1 promotes benign tumors by modifying tumor promoter-induced cell proliferation and inflammation but retains a suppressive function for malignant conversion.", "output": {"entities": {"gene": [{"text": "TGFbeta1", "start": 11, "end": 19}], "disease": [{"text": "inflammation", "start": 102, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TGFbeta1", "start": 11, "end": 19}, "tail": {"text": "inflammation", "start": 102, "end": 114}}]}}, "schema": []}
{"input": "Here we applied whole-genome sequencing (WGS) to the DNA of a sporadic FAP patient in which we did not find any pathological APC mutations by direct sequencing.", "output": {"entities": {"gene": [{"text": "APC", "start": 125, "end": 128}], "disease": [{"text": "FAP", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APC", "start": 125, "end": 128}, "tail": {"text": "FAP", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori' s disease.", "output": {"entities": {"gene": [{"text": "AGL", "start": 11, "end": 14}], "disease": [{"text": "Cori' s disease", "start": 78, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGL", "start": 11, "end": 14}, "tail": {"text": "Cori' s disease", "start": 78, "end": 93}}]}}, "schema": []}
{"input": "The importance of these systems is indicated by the evidence that, in genetic models of hypertension in the rat, blood pressure is elevated by the renin gene independently of changes in plasma levels of renin.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 147, "end": 157}], "disease": [{"text": "blood pressure", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Wnt7a signaling through its receptor Fzd7 accelerates and augments regeneration by stimulating satellite stem cell expansion through the planar cell polarity pathway, as well as myofiber hypertrophy through the AKT/mammalian target of rapamycin (mTOR) anabolic pathway.", "output": {"entities": {"gene": [{"text": "Fzd7", "start": 37, "end": 41}], "disease": [{"text": "hypertrophy", "start": 187, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to analyze the relationship between fractures and BMD and the rs3102735 (163 A/G), rs3134070 (245 T/G) and rs2073618 (1181 G/C) SNPs of the OPG and the rs2277438 SNP of the RANKL, in patients with sporadic PHPT.", "output": {"entities": {"gene": [{"text": "OPG", "start": 165, "end": 168}], "disease": [{"text": "sporadic", "start": 222, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "We also examine whether ischemia-induced RGS2-mediated apoptosis is affected by siRNA-targeted endogenous PKCdelta downregulation or its phosphorylation.", "output": {"entities": {"gene": [{"text": "RGS2", "start": 41, "end": 45}], "disease": [{"text": "ischemia", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Stathmin levels increase early during normal mouse prostate development and again during prostate tumor development and progression.", "output": {"entities": {"gene": [{"text": "Stathmin", "start": 0, "end": 8}], "disease": [{"text": "prostate tumor", "start": 89, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Stathmin", "start": 0, "end": 8}, "tail": {"text": "prostate tumor", "start": 89, "end": 103}}]}}, "schema": []}
{"input": "Ectopic expression of mitochondrial uncoupling protein 1 (UCP1) in the white adipose tissue of the aP2-Ucp1 transgenic mice reduced obesity induced by genetic or dietary manipulations.", "output": {"entities": {"gene": [{"text": "UCP1", "start": 58, "end": 62}], "disease": [{"text": "obesity", "start": 132, "end": 139}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "UCP1", "start": 58, "end": 62}, "tail": {"text": "obesity", "start": 132, "end": 139}}]}}, "schema": []}
{"input": "In ATS, loss of GLUT10 results in defective collagen and/or elastin.", "output": {"entities": {"gene": [{"text": "GLUT10", "start": 16, "end": 22}], "disease": [{"text": "ATS", "start": 3, "end": 6}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT10", "start": 16, "end": 22}, "tail": {"text": "ATS", "start": 3, "end": 6}}]}}, "schema": []}
{"input": "ligand 14, S100 calcium binding protein A9, and keratin 17) were found to be upregulated in ELF of non-small-cell lung cancer patients with adenocarcinoma or squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "ELF", "start": 92, "end": 95}], "disease": [{"text": "squamous cell carcinoma", "start": 158, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "F VIII dosage was gradually reduced with advanced resorption of the haematoma and thereafter switched to prophylaxis (40 IU/kg bw 3 times weekly).", "output": {"entities": {"gene": [{"text": "VIII", "start": 2, "end": 6}], "disease": [{"text": "haematoma", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.", "output": {"entities": {"gene": [{"text": "K71", "start": 69, "end": 72}], "disease": [{"text": "hypotrichosis", "start": 119, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "K71", "start": 69, "end": 72}, "tail": {"text": "hypotrichosis", "start": 119, "end": 132}}]}}, "schema": []}
{"input": "To investigate tissue flow disturbance and hypoxia during migraine aura, we studied a case of familial hemiplegic migraine (FHM) using novel magnetic resonance imaging (MRI) techniques.", "output": {"entities": {"gene": [{"text": "MRI", "start": 169, "end": 172}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The current study was undertaken to determine whether 1 mechanism by which group II sPLA2 might contribute to the progression of inflammation and atherosclerosis is by increasing the formation of biologically active oxidized phospholipids.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 84, "end": 89}], "disease": [{"text": "inflammation", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Deficiency of ECHS1 or HIBCH should be considered in children with Leigh disease.", "output": {"entities": {"gene": [{"text": "ECHS1", "start": 14, "end": 19}], "disease": [{"text": "Leigh disease", "start": 67, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ECHS1", "start": 14, "end": 19}, "tail": {"text": "Leigh disease", "start": 67, "end": 80}}]}}, "schema": []}
{"input": "Patients suffer from blindness, ataxia, epilepsy and cognitive defects, with MRI indicating widespread brain atrophy, and profound neuron loss is evident within the retina and brain.", "output": {"entities": {"gene": [{"text": "MRI", "start": 77, "end": 80}], "disease": [{"text": "epilepsy", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Examination of sputum provides a direct method to investigate airway inflammation non-invasively in particular Th1 (IL-2, IFN-gamma) and Th2 (IL-4, IL-10) cytokine production.", "output": {"entities": {"gene": [{"text": "Th1", "start": 111, "end": 114}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "No significant difference in IL-13 or interferon-gamma gene expression in the tuberculin reactions was seen between atopic and nonatopic individuals.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 29, "end": 34}], "disease": [{"text": "atopic", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The expression of MRP1/CD9 and integrin alpha3 from the same tissue sample were examined immunohistochemically in 15 patients with normal endometrium and in 56 patients with uterine endometrioid adenocarcinoma.", "output": {"entities": {"gene": [{"text": "CD9", "start": 23, "end": 26}], "disease": [{"text": "endometrioid adenocarcinoma", "start": 182, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Molecular cloning and initial characterization of a novel fibrinogen-related gene, HFREP-1.", "output": {"entities": {"gene": [{"text": "HFREP-1", "start": 83, "end": 90}], "disease": [{"text": "fibrinogen", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "], magnetic resonance imaging [MRI], and subtraction scintigraphy) suggested coexistent primary hyperparathyroidism (pHPT); however, hypercalcemia persisted postoperatively.", "output": {"entities": {"gene": [{"text": "MRI", "start": 31, "end": 34}], "disease": [{"text": "primary hyperparathyroidism", "start": 88, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In addition, we analyzed ABCB7 and PUS1, genes implicated in congenital sideroblastic anemia syndromes, but again found no coding mutations in acquired cases.", "output": {"entities": {"gene": [{"text": "PUS1", "start": 35, "end": 39}], "disease": [{"text": "congenital sideroblastic anemia", "start": 61, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated.", "output": {"entities": {"gene": [{"text": "KRT9", "start": 19, "end": 23}], "disease": [{"text": "EPPK", "start": 67, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT9", "start": 19, "end": 23}, "tail": {"text": "EPPK", "start": 67, "end": 71}}]}}, "schema": []}
{"input": "We concluded that NF-kappaB is a major and essential factor in regulating the expression of adhesion molecules, it plays an important role in the pathogenesis of UC.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 18, "end": 27}], "disease": [{"text": "adhesion", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In patients with HC, levels of NT-pro-BNP were correlated significantly with LV end-systolic volume index (r = 0. 50, p < 0. 05), LV mass index (r = 0. 47, p < 0. 05), proportion of hypokinetic segments (r = 0. 50, p < 0. 05), and levels of serum aminoterminal propeptide of type III procollagen (r = 0. 52, p < 0. 01).", "output": {"entities": {"gene": [{"text": "BNP", "start": 38, "end": 41}], "disease": [{"text": "hypokinetic", "start": 182, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We propose a model of defective anthracycline response in NQO1-deficient breast tumors, along with increased genomic instability promoted by elevated reactive oxygen species (ROS), and suggest that the NQO1 genotype is a prognostic and predictive marker for breast cancer.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 58, "end": 62}], "disease": [{"text": "genomic instability", "start": 109, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "A short term elevation of serum CTRP12 by adenovirus-mediated expression improved glucose tolerance and insulin sensitivity, normalized hyperglycemia and hyperinsulinemia, and lowered postprandial insulin resistance in obese and diabetic mice.", "output": {"entities": {"gene": [{"text": "CTRP12", "start": 32, "end": 38}], "disease": [{"text": "hyperinsulinemia", "start": 154, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The coordinated expression of PTX3 and TSG-6 may play a role in ECM remodeling at sites of inflammation.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 30, "end": 34}], "disease": [{"text": "inflammation", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "A genetic screen using a library of 6, 961 siRNAs led to the identification of SHP-1 (PTPN6), a tumor suppressor frequently mutated in malignant lymphomas, leukemias, and prostate cancer, as a potential synthetic lethal partner of the DNA repair protein polynucleotide kinase/phosphatase (PNKP).", "output": {"entities": {"gene": [{"text": "PNKP", "start": 289, "end": 293}], "disease": [{"text": "prostate cancer", "start": 171, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "We also show that the levels of BiP are not significantly different in the brains of individuals with sporadic Alzheimer' s disease or PS1-mediated FAD to levels in control brains.", "output": {"entities": {"gene": [{"text": "FAD", "start": 148, "end": 151}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.", "output": {"entities": {"gene": [{"text": "NEK2", "start": 108, "end": 112}], "disease": [{"text": "retinitis pigmentosa", "start": 41, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NEK2", "start": 108, "end": 112}, "tail": {"text": "retinitis pigmentosa", "start": 41, "end": 61}}]}}, "schema": []}
{"input": "This switch appears to be independent of a coincidental activation of the NF-kappaB pathway but is associated with high levels of proteinuria, a well known risk factor for progression of IgA nephropathy.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 74, "end": 83}], "disease": [{"text": "proteinuria", "start": 130, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We have demonstrated that an intact vimentin intermediate filament network contributes to the maintenance of the chondrocyte phenotype and thus an imbalance favouring filament disassembly can disturb the integrity of the articular cartilage, and may ultimately lead to the development of pathologies such as osteoarthritis.", "output": {"entities": {"gene": [{"text": "vimentin", "start": 36, "end": 44}], "disease": [{"text": "osteoarthritis", "start": 308, "end": 322}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vimentin", "start": 36, "end": 44}, "tail": {"text": "osteoarthritis", "start": 308, "end": 322}}]}}, "schema": []}
{"input": "In the present study, we focused on downstream signals of IL-6 and oxidative stress induced by cisplatin in order to evaluate the protective role of IL-6 in the development of acute renal failure.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 58, "end": 62}], "disease": [{"text": "acute renal failure", "start": 176, "end": 195}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-6", "start": 58, "end": 62}, "tail": {"text": "acute renal failure", "start": 176, "end": 195}}]}}, "schema": []}
{"input": "SPECT-CT imaging of xenograft tumors infected with Ad5/3PB-hNIS showed steady uptake, whereas infection with Ad5/3PB-ADP-hNIS led to increasing uptake, indicating viral spread.", "output": {"entities": {"gene": [{"text": "ADP", "start": 117, "end": 120}], "disease": [{"text": "tumors", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Genetic analysis demonstrated the absence of an usual FMTC mutation and the presence of a germline 9-bp duplication in RET exon 8 in the heterozygous state in all patients with MTC.", "output": {"entities": {"gene": [{"text": "RET", "start": 119, "end": 122}], "disease": [{"text": "FMTC", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 119, "end": 122}, "tail": {"text": "FMTC", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "The serine-threonine mitogen-activated protein kinase kinase family member T-LAK cell-originated protein kinase (TOPK/PBK) is heavily involved in tumor development, cancer growth, apoptosis, and inflammation.", "output": {"entities": {"gene": [{"text": "PBK", "start": 118, "end": 121}], "disease": [{"text": "inflammation", "start": 195, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The distribution of AGXT2L1 expression in control subjects versus BPD and SZ was highly significant (Fisher' s Exact Test, p & lt; 10 (-06)).", "output": {"entities": {"gene": [{"text": "AGXT2L1", "start": 20, "end": 27}], "disease": [{"text": "SZ", "start": 74, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGXT2L1", "start": 20, "end": 27}, "tail": {"text": "SZ", "start": 74, "end": 76}}]}}, "schema": []}
{"input": "Heart failure was produced by myocardial infarction, and was associated with markedly increased AMPK and SIRT1 protein levels.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 105, "end": 110}], "disease": [{"text": "Heart failure", "start": 0, "end": 13}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 105, "end": 110}, "tail": {"text": "Heart failure", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "In mice, angiotensin II infusion induces renal fibrosis via ADAM17-mediated TGF-alpha shedding and subsequent EGFR activation.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 60, "end": 66}], "disease": [{"text": "renal fibrosis", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Forced expression of BCAR4 in human ZR-75-1 and MCF7 breast cancer cells resulted in cell proliferation in the absence of estrogen and in the presence of various antiestrogens.", "output": {"entities": {"gene": [{"text": "BCAR4", "start": 21, "end": 26}], "disease": [{"text": "breast cancer", "start": 53, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR4", "start": 21, "end": 26}, "tail": {"text": "breast cancer", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "Moreover, in human intestinal inflammation, IDO was expressed in ulcer associated cell lineage.", "output": {"entities": {"gene": [{"text": "IDO", "start": 44, "end": 47}], "disease": [{"text": "ulcer", "start": 65, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "These evidences indicate the NEDD8/beta-catenin/p27 pathway as a possible molecular target for prevention of lipodystrophy development in patients under HAART therapy.", "output": {"entities": {"gene": [{"text": "p27", "start": 48, "end": 51}], "disease": [{"text": "lipodystrophy", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In the absence of FMRP, these same mRNAs may be partially translated via alternative mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 18, "end": 22}], "disease": [{"text": "fragile X syndrome", "start": 165, "end": 183}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 18, "end": 22}, "tail": {"text": "fragile X syndrome", "start": 165, "end": 183}}]}}, "schema": []}
{"input": "We found the following frequencies: blood group O (0. 54), sickle-cell trait (0. 23), G6PD deficiency (0. 09), MBP gene mutations (0. 34), TNF-alpha promoter mutations (at positions-238: 0. 17 and-308: 0. 22) and NOS2 promoter mutation (0. 18).", "output": {"entities": {"gene": [{"text": "MBP gene", "start": 111, "end": 119}], "disease": [{"text": "sickle-cell trait", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.", "output": {"entities": {"gene": [{"text": "SLC26A3", "start": 30, "end": 37}], "disease": [{"text": "Congenital Chloride Diarrhea", "start": 67, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A3", "start": 30, "end": 37}, "tail": {"text": "Congenital Chloride Diarrhea", "start": 67, "end": 95}}]}}, "schema": []}
{"input": "For smoking HBV carriers, the odds ratios of developing HCC for those heterozygous and homozygous for the NAT2 * 4 functional allele compared with those without any copies of the functional allele (reference group) were 2. 67 (95% confidence interval 1. 15-6. 22) and 2. 58 (95% confidence interval 1. 04-6. 43), respectively.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 106, "end": 110}], "disease": [{"text": "smoking", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Our goal was to set up a pilot study to explore the possible relation between the expression of p66 ((ShcA)) and PTX3, two emerging regulators of stress response and inflammation processes, respectively, and the circulating levels of LDL-cholesterol (LDL), a factor implicated in the development of inflammation and oxidative-stress associated diseases such as atherosclerosis.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 113, "end": 117}], "disease": [{"text": "inflammation", "start": 166, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We have identified PKHD1, the gene mutated in ARPKD.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 19, "end": 24}], "disease": [{"text": "ARPKD", "start": 46, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 19, "end": 24}, "tail": {"text": "ARPKD", "start": 46, "end": 51}}]}}, "schema": []}
{"input": "Leukocyte adhesion deficiency type II is a hereditary disorder of neutrophil migration caused by mutations in the guanosine diphosphate-fucose transporter gene (SLC35C1).", "output": {"entities": {"gene": [{"text": "SLC35C1", "start": 161, "end": 168}], "disease": [{"text": "Leukocyte adhesion deficiency type II", "start": 0, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC35C1", "start": 161, "end": 168}, "tail": {"text": "Leukocyte adhesion deficiency type II", "start": 0, "end": 37}}]}}, "schema": []}
{"input": "Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 22, "end": 28}], "disease": [{"text": "Ehlers-Danlos syndrome type VII", "start": 58, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A1", "start": 22, "end": 28}, "tail": {"text": "Ehlers-Danlos syndrome type VII", "start": 58, "end": 89}}]}}, "schema": []}
{"input": "MIF enhanced Akt activity in primary and immortalized fibroblasts (MEF and NIH/3T3), HeLa cervix carcinoma cells and various breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "MEF", "start": 67, "end": 70}], "disease": [{"text": "cervix carcinoma", "start": 90, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Here, I will overview and contrast these models highlighting the advances both represent in our understanding of how defects in the ATR-dependent DNA damage response can impact on normal development, tissue homeostasis, ageing and cancer.", "output": {"entities": {"gene": [{"text": "ATR", "start": 132, "end": 135}], "disease": [{"text": "ageing", "start": 220, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The essential role of the vasopressin V2 receptor and AQP2 in the maintenance of body water homeostasis became clear when it was shown that mutations in their genes cause nephrogenic diabetes insipidus, a disorder in which the kidney is unable to concentrate urine in response to AVP.", "output": {"entities": {"gene": [{"text": "AVP", "start": 280, "end": 283}], "disease": [{"text": "unable to concentrate", "start": 237, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Telomere shortening: a biological marker of sporadic colorectal cancer with normal expression of p53 and mismatch repair proteins.", "output": {"entities": {"gene": [{"text": "p53", "start": 97, "end": 100}], "disease": [{"text": "sporadic", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Cellular Prion Protein (PrP (C)) is known to mediate a protective role in several neurological conditions such as ischemia and epilepsy.", "output": {"entities": {"gene": [{"text": "Prion Protein", "start": 9, "end": 22}], "disease": [{"text": "ischemia", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Among behavioral phenotypes previously reported for NK1R mice on a mixed background, an analgesic-like phenotype was maintained on the C57BL/6 background used here, while KO: s and WT: s did not differ in anxiety-and depression-related behaviors.", "output": {"entities": {"gene": [{"text": "NK1R", "start": 52, "end": 56}], "disease": [{"text": "depression", "start": 217, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NK1R", "start": 52, "end": 56}, "tail": {"text": "depression", "start": 217, "end": 227}}]}}, "schema": []}
{"input": "IGF-I concentrations are also partly heritable and thus genetic variation at IGF1 could influence height, weight, BMI and the risk of developing chronic diseases.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 77, "end": 81}], "disease": [{"text": "weight", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In addition, immunostaining showed that the PTGFR was expressed in human tumor blood vessels in vivo.", "output": {"entities": {"gene": [{"text": "PTGFR", "start": 44, "end": 49}], "disease": [{"text": "tumor", "start": 73, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "It has been reported that lysyl oxidase (LOX) is a hypoxia-responsive factor and is associated with the malignant progression of carcinoma.", "output": {"entities": {"gene": [{"text": "LOX", "start": 41, "end": 44}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Patterns of loss of heterozygosity at loci from chromosome arm 13q suggests a possible involvement of BRCA2 in sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 102, "end": 107}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "To test the biological consequences of the 8-bp repeat sequence in the insulin promoter, a normal and variant promoter were subcloned into a luciferase plasmid, and reporter gene activity assessed by transient transfection into mouse insulinoma (beta TC1) and hamster insulinoma (HIT) cells.", "output": {"entities": {"gene": [{"text": "TC1", "start": 251, "end": 254}], "disease": [{"text": "hamster insulinoma", "start": 260, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "The expression of miRNA-200c and RhoE were investigated in gastric cancer tissues and cells (SGC7901 and SGC7901/DDP) by qRT-PCR.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 33, "end": 37}], "disease": [{"text": "gastric cancer", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We focused on two inflammation-associated cytokines, interleukin-6 (IL-6) and transforming growth factor-beta 1 (TGF-β1), and investigated their expression and activity, as well as their relationship to key features of malignancy, in tumour samples from patients with BTC and in cultured BTC cells.", "output": {"entities": {"gene": [{"text": "BTC", "start": 268, "end": 271}], "disease": [{"text": "inflammation", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Here, we concentrate on chromatin disposal during necrosis and the involvement of Deoxyribonuclease 1 in this process with respect to its possible role in the prevention of anti-nuclear auto-immunity.", "output": {"entities": {"gene": [{"text": "Deoxyribonuclease 1", "start": 82, "end": 101}], "disease": [{"text": "necrosis", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Chromosome translocation creates a fusion between the EWSR1 gene and an ETS family gene.", "output": {"entities": {"gene": [{"text": "EWSR1 gene", "start": 54, "end": 64}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "We investigated the roles of AURKA in inflammation and gastric tumorigenesis.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 29, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "These results are consistent with the expression of VDR and 1alpha (OH) ase in samples of normal colonic tissue, aberrant crypt foci (ACFs) and colon adenocarcinomas.", "output": {"entities": {"gene": [{"text": "1alpha (OH) ase", "start": 60, "end": 75}], "disease": [{"text": "aberrant crypt foci", "start": 113, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The expression of NRP-1 in a panel of human gastric cancer cells was examined by real-time RT-PCR and immunoblotting.", "output": {"entities": {"gene": [{"text": "NRP", "start": 18, "end": 21}], "disease": [{"text": "gastric cancer", "start": 44, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Enriched expression of LSC maintenance and ESC-like program genes in normal myeloid progenitors and poor-prognosis human malignancies links the frequency of aberrantly self-renewing progenitor-like cancer stem cells (CSCs) to prognosis in human cancer.", "output": {"entities": {"gene": [{"text": "LSC", "start": 23, "end": 26}], "disease": [{"text": "cancer", "start": 198, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Males and alleles of loci flanking SP-B were associated with more severe cases (forced expiratory volume in one second/forced vital capacity < or = 40%).", "output": {"entities": {"gene": [{"text": "SP-B", "start": 35, "end": 39}], "disease": [{"text": "vital capacity", "start": 126, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We summarize experimental data describing the roles of BDNF, VGF and other neuropeptides in depression and how they may be acting through the generation of new neurons and altered synaptic activity.", "output": {"entities": {"gene": [{"text": "VGF", "start": 61, "end": 64}], "disease": [{"text": "depression", "start": 92, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGF", "start": 61, "end": 64}, "tail": {"text": "depression", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "The severity of inflammation corresponded to increased numbers of CD8alphabeta (+) NK1. 1 (+) T cells and levels of production of the Th1-type cytokines IFN-gamma and TNF-alpha.", "output": {"entities": {"gene": [{"text": "Th1", "start": 134, "end": 137}], "disease": [{"text": "inflammation", "start": 16, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The analysis of 40 individuals with mild asthma and 49 patients with the severe form of the disease revealed a negative association of genotype GG IL4 (OR = 0. 39, 95% CI = 0. 15-0. 99, p = 0. 035), and also a trend towards a positive association of the GC IL4 genotype (OR = 2. 52, 95% CI = 0. 98-6. 57, p = 0. 052) with mild BA.", "output": {"entities": {"gene": [{"text": "IL4", "start": 147, "end": 150}], "disease": [{"text": "mild", "start": 36, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "As variations in the TNFSF11 gene promoter could alter its expression, the aim of the study was to evaluate the functional influence of three polymorphisms in the promoter and to investigate their association with bone mineral density (BMD) and biochemical markers in postmenopausal women.", "output": {"entities": {"gene": [{"text": "TNFSF11 gene", "start": 21, "end": 33}], "disease": [{"text": "bone mineral density", "start": 214, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "In this study we report seven different germline mutations in the RET proto-oncogene in five of five MEN 2A and five of six FMTC families.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 66, "end": 84}], "disease": [{"text": "FMTC", "start": 124, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 66, "end": 84}, "tail": {"text": "FMTC", "start": 124, "end": 128}}]}}, "schema": []}
{"input": "FH4 = STAP1. Another gene for familial hypercholesterolemia? Relevance to cascade testing and drug development?", "output": {"entities": {"gene": [{"text": "STAP1", "start": 6, "end": 11}], "disease": [{"text": "hypercholesterolemia", "start": 39, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAP1", "start": 6, "end": 11}, "tail": {"text": "hypercholesterolemia", "start": 39, "end": 59}}]}}, "schema": []}
{"input": "Transgenic models with extra copies of the Pmp22 gene have provided formal proof that overexpression of only this candidate gene is sufficent to cause peripheral demyelination, onion bulb formation, secondary axonal loss, and progressive muscle atrophy, the pathological hallmarks of CMT1A.", "output": {"entities": {"gene": [{"text": "Pmp22 gene", "start": 43, "end": 53}], "disease": [{"text": "peripheral demyelination", "start": 151, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Our findings point to an association of APOL1 G1/G2 with kidney disease in sickle cell disease, possibly through increased risk of hemoglobinuria, and associations of HMOX1 variants with kidney disease, possibly through reduced protection of the kidney from hemoglobin-mediated toxicity.", "output": {"entities": {"gene": [{"text": "HMOX1", "start": 167, "end": 172}], "disease": [{"text": "hemoglobinuria", "start": 131, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Public TRB were identified in MT from the blood and tumor of different melanoma patients.", "output": {"entities": {"gene": [{"text": "TRB", "start": 7, "end": 10}], "disease": [{"text": "melanoma", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "At least one other gene contained in the commonly deleted region, LYSMD3, shows a high level of central nervous expression during embryogenesis and is also, therefore, a good candidate gene for other central nervous system (CNS) symptoms, such as psychomotor retardation, brain anomalies and muscular hypotonia of the 5q14. 3 microdeletion syndrome.", "output": {"entities": {"gene": [{"text": "LYSMD3", "start": 66, "end": 72}], "disease": [{"text": "muscular hypotonia", "start": 292, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "The risk of developing RV with minor skin vasculitis (i. e., purpura or petechiae) was 10-20-fold increased in patients with DRB1 * 04, in particular in those homozygous for DRB1 * 04, and also in those with DRB1 * 0401.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 125, "end": 129}], "disease": [{"text": "purpura", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Multiple logistic regression analyses revealed that the ALDH2 * 2 variant allele was an independent variable exhibiting strong protection (odds ratio 0. 072; 95 per cent confidence interval 0. 02-0. 26) against HDS after adjustment for hypertension, diabetes mellitus, smoking status and liver dysfunction.", "output": {"entities": {"gene": [{"text": "HDS", "start": 211, "end": 214}], "disease": [{"text": "diabetes mellitus", "start": 250, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Neutralizing CCL2 with an anti-CCL2 antibody (0. 2-20 ng) or injecting RS-102895 (0. 1-10 pmol), a CCR2b chemokine receptor antagonist, into the RVM on day 1 after SNL, significantly attenuated the established thermal and mechanical hypersensitivity.", "output": {"entities": {"gene": [{"text": "SNL", "start": 164, "end": 167}], "disease": [{"text": "hypersensitivity", "start": 233, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine in a clinically and therapeutically homogeneous group of 122 sporadic Dukes' B colorectal carcinomas with a median follow-up of 67 months (3-144 months) whether or not p53 protein expression, TP53 mutation and K-ras mutation correlated with prognosis.", "output": {"entities": {"gene": [{"text": "TP53", "start": 231, "end": 235}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Consequently, the CIHM status in the gastric cancer tissue, in relation to IL-17A (-197G > A),-17F (7488T > C), and MIF (-173G > C and-794 tetranucleotide repeats) polymorphisms was investigated.", "output": {"entities": {"gene": [{"text": "MIF", "start": 116, "end": 119}], "disease": [{"text": "gastric cancer", "start": 37, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In the adult heart, cardiac GRK2 is a major factor regulating inotropic and lusitropic tachyphylaxis to beta-adrenergic agonist, which likely contributes to its protective effects in catecholamine cardiomyopathy.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 28, "end": 32}], "disease": [{"text": "cardiomyopathy", "start": 197, "end": 211}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GRK2", "start": 28, "end": 32}, "tail": {"text": "cardiomyopathy", "start": 197, "end": 211}}]}}, "schema": []}
{"input": "The task elicited significant increases of systolic blood pressure (SBP), diastolic BP (DBP) and heart rate (HR) and a significant decrease of HRV (all time effects P < 0. 0001).", "output": {"entities": {"gene": [{"text": "DBP", "start": 88, "end": 91}], "disease": [{"text": "systolic blood pressure", "start": 43, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In this study, MR-1 protein expression was determined by immunohistochemistry in specimens of primary cancer and the adjacent noncancerous tissues from gastric cancer patients.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 15, "end": 19}], "disease": [{"text": "gastric cancer", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "HIF-1α and LOX were knocked down in epithelial ovarian cancer cells (EOC), and HIF-1α/LOX regulation mechanism and LOX catalytic activity under hypoxia/reoxygenation microenvironment were explored.", "output": {"entities": {"gene": [{"text": "LOX", "start": 11, "end": 14}], "disease": [{"text": "hypoxia", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration.", "output": {"entities": {"gene": [{"text": "espin", "start": 28, "end": 33}], "disease": [{"text": "deafness", "start": 95, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "espin", "start": 28, "end": 33}, "tail": {"text": "deafness", "start": 95, "end": 103}}]}}, "schema": []}
{"input": "In late-onset bortezomib-induced peripheral neuropathy, the significant genes were SOD2 (upregulated by 1 & #183; 18 times; p = 9 & #183; 6 & #215; 10 (-3)) and MYO5A (1 & #183; 93 times; p = 3 & #183; 2 & #215; 10 (-2)), involved in development and function of the nervous system.", "output": {"entities": {"gene": [{"text": "MYO5A", "start": 161, "end": 166}], "disease": [{"text": "peripheral neuropathy", "start": 33, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYO5A", "start": 161, "end": 166}, "tail": {"text": "peripheral neuropathy", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "The epidermal growth factor (EGF) rs4444903 A > G polymorphism has been associated with the development of liver cancer, which commonly complicates cirrhosis of viral origin; however, whether this polymorphism might be associated with fibrosis progression in chronic viral hepatitis is unknown.", "output": {"entities": {"gene": [{"text": "EGF", "start": 29, "end": 32}], "disease": [{"text": "fibrosis", "start": 235, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Metaphase spreads obtained from the BM revealed an aneuploid karyotype with-7 and a submetacentric marker chromosome derived from chromosome 2, which was determined to be inv (2) (p23q13) by fluorescence in situ hybridization using the Vysis ALK probe.", "output": {"entities": {"gene": [{"text": "ALK", "start": 242, "end": 245}], "disease": [{"text": "aneuploid", "start": 51, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In an effort to identify gene (s) whose variant (s) are involved in the development of asthma, we examined the genetic effects of 19 single nucleotide polymorphisms in eight cytokine and cytokine receptor genes, including IL1A, IL1B, IL2, IL3, IL4, IL8, IL10, and IL5RA, on asthma and atopy.", "output": {"entities": {"gene": [{"text": "IL1B", "start": 228, "end": 232}], "disease": [{"text": "atopy", "start": 285, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "EFT-like cases with fusions of EWS to non-ETS translocation partners are also uncommon but involve the same amino-terminal portion of EWS, which in our novel EWS-SP3 fusion is joined to the SP3 zinc-finger DNA-binding domain.", "output": {"entities": {"gene": [{"text": "EWS", "start": 31, "end": 34}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The mean TRF length in gastric cancer was not statistically correlated with clinicopathological parameters and telomerase activity.", "output": {"entities": {"gene": [{"text": "TRF", "start": 9, "end": 12}], "disease": [{"text": "gastric cancer", "start": 23, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We did not identify the SRY gene in 46, XX true hermaphrodites and 46, XX males with ambiguous genitalia, therefore SRY translocation to X chromosome or autosome is unlikely.", "output": {"entities": {"gene": [{"text": "SRY", "start": 24, "end": 27}], "disease": [{"text": "translocation", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "All these effects were more pronounced in females and remained significant after adjustment for sex, age, BMI, systolic blood pressure and serum apolipoprotein B levels.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 145, "end": 161}], "disease": [{"text": "systolic blood pressure", "start": 111, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "STRAD in Peutz-Jeghers syndrome and sporadic cancers.", "output": {"entities": {"gene": [{"text": "STRAD", "start": 0, "end": 5}], "disease": [{"text": "cancers", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 61, "end": 66}], "disease": [{"text": "ovarian cancer", "start": 22, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 61, "end": 66}, "tail": {"text": "ovarian cancer", "start": 22, "end": 36}}]}}, "schema": []}
{"input": "Cav1 protects squamous epithelia by controlling cell growth and stabilizing cell junctions and matrix adhesion.", "output": {"entities": {"gene": [{"text": "Cav1", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Bronchiolar CC10 mRNA levels remained unchanged in sections containing abnormalities elsewhere.", "output": {"entities": {"gene": [{"text": "CC10", "start": 12, "end": 16}], "disease": [{"text": "abnormalities", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Because CD19 (+) CD5 (+) B cells are important producers of IgA and contribute to several autoimmune diseases, they may play an important role in IgA nephropathy.", "output": {"entities": {"gene": [{"text": "CD5", "start": 17, "end": 20}], "disease": [{"text": "autoimmune diseases", "start": 90, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "To test directly whether LPL is an insulin resistance gene, we performed the hyperinsulinemic-euglycemic clamp in a large family-based population of Mexican Americans who were genotyped at six polymorphisms in LPL that define the most common haplotypes in the population.", "output": {"entities": {"gene": [{"text": "LPL", "start": 25, "end": 28}], "disease": [{"text": "insulin resistance", "start": 35, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In 41 samples of corresponding non-neoplastic mucosae, no DNA methylation of CHFR was detected.", "output": {"entities": {"gene": [{"text": "CHFR", "start": 77, "end": 81}], "disease": [{"text": "non-neoplastic", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "According to data analysis males, cigarette smokers, patients who carry metabolic syndrome or familial antecedent of adenomas were significantly associated with CRA risk.", "output": {"entities": {"gene": [{"text": "CRA", "start": 161, "end": 164}], "disease": [{"text": "metabolic syndrome", "start": 72, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "This family had an anti-centromere + child with PHT and a congenital heart lesion, a mother who died of PPH, and asymptomatic ANA + relatives (father anti-Sm +/anti-RNP +; autoantibodies unknown in fraternal twin sister and in maternal grandmother).", "output": {"entities": {"gene": [{"text": "PPH", "start": 104, "end": 107}], "disease": [{"text": "asymptomatic", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In this study, hydrophobic fluorescent dyes ICG-Der-01 was entrapped into the N-succinyl-N'-octyl chitosan (SOC) micelles to form the near infrared absorbing dyes SOC-ICG-Der-01 and SOC-ICG-Der-01 mediated near infrared laser (SOC-ICG-Der-01/NIR) thermotherapy was combined with Ad-ERβ gene therapy to regress colon cancer in vivo.", "output": {"entities": {"gene": [{"text": "SOC", "start": 108, "end": 111}], "disease": [{"text": "colon cancer", "start": 310, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "Key genes that may play a role in keloid formation and growth involve: suppressor gene p53., cyclin-depend-ent kinase inhibitor CDKN1A (p21) and BCL2 family genes: antiapoptotic BCL-2 and proapoptotic BAX.", "output": {"entities": {"gene": [{"text": "BAX", "start": 201, "end": 204}], "disease": [{"text": "keloid formation", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "A female patient with the karyotype 45, X/46, X, r (X) (p11. 2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome.", "output": {"entities": {"gene": [{"text": "p11", "start": 56, "end": 59}], "disease": [{"text": "prominent fingertip pads", "start": 100, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In contrast, UCP2 mRNA levels were increased by 30% in skeletal muscle of 20% weight-reduced subjects with obesity.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 13, "end": 17}], "disease": [{"text": "weight", "start": 78, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Moreover, DDN displayed a greater synergistic effect with cisplatin in a FA-proficient cancer cell line compared to its FA-deficient isogenic counterpart, suggesting that DDN might be a good lead candidate as cisplatin chemosensitizer in both FA-deficient and FA-competent tumors.", "output": {"entities": {"gene": [{"text": "DDN", "start": 10, "end": 13}], "disease": [{"text": "tumors", "start": 273, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "We propose that RhoE-targeted therapy might inhibit the high invasive potential of gastric cancer cells in hypoxic regions.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 16, "end": 20}], "disease": [{"text": "gastric cancer", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Correlation analysis demonstrated that high expression of MR-1 in gastric cancer was significantly correlated with clinical stage (P = 0. 034).", "output": {"entities": {"gene": [{"text": "MR-1", "start": 58, "end": 62}], "disease": [{"text": "gastric cancer", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of RhoE significantly enhanced the migratory and invasive abilities of gastric cancer cells both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 17, "end": 21}], "disease": [{"text": "gastric cancer", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Gemcitabine triggers a pro-survival response in pancreatic cancer cells through activation of the MNK2/eIF4E pathway.", "output": {"entities": {"gene": [{"text": "MNK2", "start": 98, "end": 102}], "disease": [{"text": "pancreatic cancer", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to study the role of the transient receptor potential vanilloid 1 (TRPV1), a key integrator of noxious stimuli, in the pathogenesis of pancreatic pain in a rat model of CP.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 79, "end": 84}], "disease": [{"text": "CP", "start": 181, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPV1", "start": 79, "end": 84}, "tail": {"text": "CP", "start": 181, "end": 183}}]}}, "schema": []}
{"input": "This study was designed to determine the prevalence of p16, MGMT, RARbeta2, CLDN3, CRBP and MT1G gene methylation in patients with ESCC to evaluate the variation of gene methylation across a spectrum of preneoplastic lesions, and assess the feasibility of using gene methylation in a primary screening test utilizing frozen esophageal cells collected by balloon cytology samplers.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 60, "end": 64}], "disease": [{"text": "esophageal", "start": 324, "end": 334}]}, "relations": {}}, "schema": []}
{"input": "Functional analyses showed that LRRC50 deficiency disrupts assembly of distally and proximally DNAH5-and DNAI2-containing ODA complexes, as well as DNALI1-containing IDA complexes, resulting in immotile cilia.", "output": {"entities": {"gene": [{"text": "DNALI1", "start": 148, "end": 154}], "disease": [{"text": "immotile cilia", "start": 194, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Exposure to plasticizers di (n-butyl) phthalate (DBP) and diethylhexyl phthalate (DEHP) during sexual differentiation causes male reproductive tract malformations in rats and rabbits.", "output": {"entities": {"gene": [{"text": "DBP", "start": 49, "end": 52}], "disease": [{"text": "malformations", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Cigarette smoke extracts (CSE) could promote esophageal squamous cell carcinoma (ESCC) through upregulation of cyclooxygenase-2 (COX-2) expression.", "output": {"entities": {"gene": [{"text": "CSE", "start": 26, "end": 29}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 45, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The leukemic cells in an acute myeloid leukemia (AML) patient with a t (9; 11) (p22; p15) were recently shown to have a fusion between the NUP98 gene and the LEDGF gene but it was not demonstrated that this fusion was recurrent in other leukaemia patients with the same translocation.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 139, "end": 149}], "disease": [{"text": "translocation", "start": 270, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.", "output": {"entities": {"gene": [{"text": "BMPR1B", "start": 38, "end": 44}], "disease": [{"text": "brachydactyly type A1", "start": 65, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1B", "start": 38, "end": 44}, "tail": {"text": "brachydactyly type A1", "start": 65, "end": 86}}]}}, "schema": []}
{"input": "RANTES A-403 was associated with CAD independently from conventional risk factors and CRP or fibrinogen as inflammatory biomarkers.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 0, "end": 6}], "disease": [{"text": "fibrinogen", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Recent findings have added yet another functional dimension, wherein cancer cells themselves co-opt NKG2D for their own benefit to complement the presence of its ligands for self-stimulation of parameters of tumorigenesis.", "output": {"entities": {"gene": [{"text": "NKG2D", "start": 100, "end": 105}], "disease": [{"text": "tumorigenesis", "start": 208, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Individuals with LEP-2548A/G or G/G genotype in ISS group (47. 5%) showed a significantly lower weight and body mass index (BMI) (but not leptin levels) than individuals carrying the A/A genotype (52. 5%).", "output": {"entities": {"gene": [{"text": "LEP", "start": 17, "end": 20}], "disease": [{"text": "weight", "start": 96, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Herein, CGRP immunolabeling (IL) was detected in epidermal keratinocytes at levels that were especially high and widespread in the skin of humans from locations afflicted with postherpetic neuralgia (PHN) and complex region pain syndrome type 1 (CRPS), of monkeys infected with simian immunodeficiency virus, and of rats subjected to L5/L6 spinal nerve ligation, sciatic nerve chronic constriction, and subcutaneous injection of complete Freund' s adjuvant.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 8, "end": 12}], "disease": [{"text": "constriction", "start": 385, "end": 397}]}, "relations": {}}, "schema": []}
{"input": "] and other conditions affecting the chromosome 14q32. 2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd (14) pat phenotype, several matters, including regulatory mechanism (s) for RTL1 expression, imprinting status of DIO3 and placental histological characteristics, remain to be elucidated.", "output": {"entities": {"gene": [{"text": "DIO3", "start": 282, "end": 286}], "disease": [{"text": "pat", "start": 173, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Paired-box gene 8 (PAX8)-peroxisome proliferator-activated receptor-γ (PPARγ) gene fusion has been identified at significant frequency in follicular thyroid carcinomas (FTCs) with cytogenetically detectable translocation t (2; 3) (q13; p25).", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 71, "end": 76}], "disease": [{"text": "translocation", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Thus, the presence of a RASAL1 amplification in ossifying fibroma may indicate a requirement for closer follow-up and more aggressive management.", "output": {"entities": {"gene": [{"text": "RASAL1", "start": 24, "end": 30}], "disease": [{"text": "fibroma", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Through a large-candidate gene-sequencing screen in patients with atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect.", "output": {"entities": {"gene": [{"text": "ALK2", "start": 181, "end": 185}], "disease": [{"text": "atrial septal defect", "start": 245, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Activation of AP-1 and of a nuclear redox factor, Ref-1, in the response of HT29 colon cancer cells to hypoxia.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 14, "end": 18}], "disease": [{"text": "hypoxia", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Moreover, rolipram significantly potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 82, "end": 92}], "disease": [{"text": "hyperalgesia", "start": 45, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 82, "end": 92}, "tail": {"text": "hyperalgesia", "start": 45, "end": 57}}]}}, "schema": []}
{"input": "While Sp1 levels increase in the cortex in a rat model of stroke, inhibition of Sp1 binding leads to enhanced apoptosis and cortical injury.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 6, "end": 9}], "disease": [{"text": "stroke", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "To identify the frequency of a mutation of the RDH5 gene in Japanese patients with hereditary retinal degeneration and to characterize clinical findings for the patients associated with a 1085delC/insGAAG mutation in the RDH5 gene.", "output": {"entities": {"gene": [{"text": "RDH5 gene", "start": 47, "end": 56}], "disease": [{"text": "retinal degeneration", "start": 94, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Familial Alzheimer' s disease (FAD) tends to present with more prominent neurological symptoms including cerebellar signs than sporadic Alzheimer' s disease (SAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 31, "end": 34}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The BCCs from sun-exposed sites, whether arsenic related or sporadic, more frequently showed overexpression of p53 than those from less-exposed areas (P =. 004; 2-tailed test).", "output": {"entities": {"gene": [{"text": "p53", "start": 111, "end": 114}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Analysis of 84 genes, which are associated with oxidative stress and antioxidant defense, showed that 7 genes were significantly and differentially regulated, namely BCL2/adenovirus E1B 19kD-interacting protein 3 (BNIP3), 24-dehydrocholesterol reduc-tase (DHCR24), dual specificity phosphatase 1 (DUSP1), forkhead box M1 (FOXM1), nudix-type motif 1 (NUDT1), prostaglandin-endoperoxide synthase 2 (PTGS2), and scavenger receptor class A, member 3 (SCARA3).", "output": {"entities": {"gene": [{"text": "SCARA3", "start": 447, "end": 453}], "disease": [{"text": "adenovirus", "start": 171, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Although healthy volunteers with the 22GA genotype had a lower Vmax value of ADA than volunteers with the GG genotype (61. 6 +/-4. 3 ng/min/mg, n = 14, vs. 78. 0 +/-2. 8 ng/min/mg, n = 82; P = 0. 02), this did not potentiate the forearm vasodilator response to 13 min of ischaemia (77. 4 +/-8. 8 ml/dl in the GA group (n = 5) vs. 87. 0 +/-5. 0 ml/dl (n = 35), area under the curve, P = 0. 3).", "output": {"entities": {"gene": [{"text": "ADA", "start": 77, "end": 80}], "disease": [{"text": "ischaemia", "start": 271, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "Because IGF-1 reduces angiotensin (Ang) II and apoptosis, we tested whether streptozotocin-induced diabetic cardiomyopathy was attenuated in IGF-1 transgenic mice (TGM).", "output": {"entities": {"gene": [{"text": "IGF-1", "start": 8, "end": 13}], "disease": [{"text": "diabetic cardiomyopathy", "start": 99, "end": 122}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-1", "start": 8, "end": 13}, "tail": {"text": "diabetic cardiomyopathy", "start": 99, "end": 122}}]}}, "schema": []}
{"input": "This study demonstrates the implication of CHCHD10 in FTD and ALS spectrum.", "output": {"entities": {"gene": [{"text": "CHCHD10", "start": 43, "end": 50}], "disease": [{"text": "ALS", "start": 62, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHCHD10", "start": 43, "end": 50}, "tail": {"text": "ALS", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "At least four of these (MCC, APC, p53 and DCC) apparently contribute to sporadic colorectal carcinogenesis.", "output": {"entities": {"gene": [{"text": "p53", "start": 34, "end": 37}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The identification of p27 (kip) in regressing keratoacanthoma but not in expanding keratoacanthoma suggests that p27 (kip) may be playing a role in promoting regression of keratoacanthoma and is a potential target for pharmacologic intervention.", "output": {"entities": {"gene": [{"text": "p27", "start": 22, "end": 25}], "disease": [{"text": "keratoacanthoma", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "ERM samples were obtained by vitrectomy from 12 subjects with PDR (aged 57 ± 6 years; duration of diabetes 16 ± 7 years), and 12 subjects with idiopathic ERM (aged 68 ± 5 years).", "output": {"entities": {"gene": [{"text": "ERM", "start": 0, "end": 3}], "disease": [{"text": "diabetes", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We made the following observations: (i) CD85j (ILT-2/LIR-1) was highly expressed alongside CD57-an established effector memory marker-on CMV-specific CD8 (+) T cells; (ii) on CD8 (+) T cells as a whole, with increasing age, CD57 and CD85j (ILT-2/LIR-1) expression increased whereas CCR7 expression decreased, indicating increasing maturation of the total CD8 (+) T-cell compartment with age; (iii) unit increases in the percentage of CMV-specific CD8 (+) T cells expressing CD57 and CD85j (ILT-2/LIR-1) were associated with incremental expansion of these T-cell populations; (iv) CMV seropositivity is associated with a marked effect on the overall phenotype of CD8 (+) T cells (at any given age, CMV seropositivity is associated with an 18. 7% increase in CD85j (ILT-2/LIR-1) expression); and (v) from our observations we estimated from this an apparent' ageing effect' of CMV on CD8 (+) T cells of 35. 4 years.", "output": {"entities": {"gene": [{"text": "CD8", "start": 40, "end": 43}], "disease": [{"text": "ageing", "start": 856, "end": 862}]}, "relations": {}}, "schema": []}
{"input": "Thirteen of these markers of brain amyloid burden--c-peptide, fibrinogen, alpha-1-antitrypsin, pancreatic polypeptide, complement C3, vitronectin, cortisol, AXL receptor kinase, interleukin-3, interleukin-13, matrix metalloproteinase-9 total, apolipoprotein E and immunoglobulin E--were used along with co-variates in multiple linear regression, and were shown by cross-validation to explain > 30% of the variance of brain amyloid burden.", "output": {"entities": {"gene": [{"text": "AXL", "start": 157, "end": 160}], "disease": [{"text": "fibrinogen", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These findings strongly implicate 5-HT2C receptors in the serotonergic suppression of DA-mediated behavioral responses to cocaine and as a potential therapeutic target for cocaine abuse.", "output": {"entities": {"gene": [{"text": "5-HT2C", "start": 34, "end": 40}], "disease": [{"text": "cocaine abuse", "start": 172, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2C", "start": 34, "end": 40}, "tail": {"text": "cocaine abuse", "start": 172, "end": 185}}]}}, "schema": []}
{"input": "Serotonin 5-HT1A, 5-HT1B, and 5-HT2A receptor mRNA expression in subjects with major depression, bipolar disorder, and schizophrenia.", "output": {"entities": {"gene": [{"text": "5-HT1B", "start": 18, "end": 24}], "disease": [{"text": "depression, bipolar", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "To assess the independent effects of obesity, insulin resistance, and steatosis on response to IFN-alpha therapy and to determine hepatic expression of factors inhibiting IFN-alpha signalling in obese and non-obese subjects with chronic HCV.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 95, "end": 104}], "disease": [{"text": "insulin resistance", "start": 46, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "GNAT1 associated with autosomal recessive congenital stationary night blindness.", "output": {"entities": {"gene": [{"text": "GNAT1", "start": 0, "end": 5}], "disease": [{"text": "congenital stationary night blindness", "start": 42, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAT1", "start": 0, "end": 5}, "tail": {"text": "congenital stationary night blindness", "start": 42, "end": 79}}]}}, "schema": []}
{"input": "Collectively, these results indicate that capsaicin induces divergent effects of the growth of gastric cancer cells that parallel its effects on tNOX expression, and demonstrate that forced tNOX down-regulation restored capsaicin-induced growth inhibition in TMC-1 cells.", "output": {"entities": {"gene": [{"text": "TMC", "start": 259, "end": 262}], "disease": [{"text": "gastric cancer", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Then, thermotherapy with SOC-ICG-Der-01/NIR combined with Ad-ERβ gene therapy to treat HCT-116 colon cancer xenograft model was investigated.", "output": {"entities": {"gene": [{"text": "SOC", "start": 25, "end": 28}], "disease": [{"text": "colon cancer", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Although intravenous heparin is routinely used in the treatment of patients with acute coronary syndromes, this anticoagulant requires antithrombin III as a cofactor, has no affinity to clot-bound thrombin, and is bound or inactivated by several plasma proteins and platelet factor 4.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 135, "end": 151}], "disease": [{"text": "acute coronary syndromes", "start": 81, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "antithrombin III", "start": 135, "end": 151}, "tail": {"text": "acute coronary syndromes", "start": 81, "end": 105}}]}}, "schema": []}
{"input": "Although mechanisms underlying loss of IENF in SFN are poorly understood, available data suggest that it results from axonal degeneration and reduced regenerative capacity.", "output": {"entities": {"gene": [{"text": "SFN", "start": 47, "end": 50}], "disease": [{"text": "axonal degeneration", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to examine the association between the hOGG1 genotype and body mass index (BMI) and fasting blood glucose (FBG) levels.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 69, "end": 74}], "disease": [{"text": "body mass index", "start": 88, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Moreover, treating both active and passive MS models with the anti-CD146 antibody AA98 significantly decreased the infiltrated lymphocytes in the CNS and decreased neuroinflammation.", "output": {"entities": {"gene": [{"text": "CD146", "start": 67, "end": 72}], "disease": [{"text": "MS", "start": 43, "end": 45}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CD146", "start": 67, "end": 72}, "tail": {"text": "MS", "start": 43, "end": 45}}]}}, "schema": []}
{"input": "Plasma TFPI levels might reflect injury of vascular endothelial cells as do plasma TM levels, and decreased plasma TFPI/TF ratio and vascular endothelial cell injuries might play causative roles in TTP.", "output": {"entities": {"gene": [{"text": "TFPI", "start": 7, "end": 11}], "disease": [{"text": "TTP", "start": 198, "end": 201}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TFPI", "start": 7, "end": 11}, "tail": {"text": "TTP", "start": 198, "end": 201}}]}}, "schema": []}
{"input": "We conclude that it is feasible to treat patients with HIV-associated lymphoma using standard dose m-BACOD plus GMCSF, but further study is needed to determine whether full-dose regimens improve survival when compared with reduced dose regimens in these individuals.", "output": {"entities": {"gene": [{"text": "GMCSF", "start": 112, "end": 117}], "disease": [{"text": "HIV-associated lymphoma", "start": 55, "end": 78}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GMCSF", "start": 112, "end": 117}, "tail": {"text": "HIV-associated lymphoma", "start": 55, "end": 78}}]}}, "schema": []}
{"input": "TLR2 and TLR3 expression as a biomarker for the risk of doxorubicin-induced heart failure.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 0, "end": 4}], "disease": [{"text": "heart failure", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR2", "start": 0, "end": 4}, "tail": {"text": "heart failure", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.", "output": {"entities": {"gene": [{"text": "RASSF1", "start": 273, "end": 279}], "disease": [{"text": "polyps", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 45, "end": 60}], "disease": [{"text": "Budd-Chiari syndrome", "start": 8, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor V Leiden", "start": 45, "end": 60}, "tail": {"text": "Budd-Chiari syndrome", "start": 8, "end": 28}}]}}, "schema": []}
{"input": "Notably, three candidates (TC0100223, TC0101686 and TC0101441) were aberrantly expressed in ERα-positive compared to ERα-negative EOC tissues, showing correlations with some malignant cancer phenotypes such as advanced FIGO stage and/or high histological grade.", "output": {"entities": {"gene": [{"text": "TC0101441", "start": 52, "end": 61}], "disease": [{"text": "cancer", "start": 184, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Our studies indicate that the AVP and its V1b receptor system may be a potential therapeutic target for treating anxiety and depressive symptoms associated with cocaine addiction.", "output": {"entities": {"gene": [{"text": "AVP", "start": 30, "end": 33}], "disease": [{"text": "depressive symptoms", "start": 125, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AVP", "start": 30, "end": 33}, "tail": {"text": "depressive symptoms", "start": 125, "end": 144}}]}}, "schema": []}
{"input": "DVL2 and DVL3 were expressed in all normal mucosa samples tested, and in sporadic colon cancer, but were not expressed in colon cancers arising in IBD patients.", "output": {"entities": {"gene": [{"text": "DVL3", "start": 9, "end": 13}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "COL2A1 mutations may be more common in LCPD patients than currently thought, particularly in familial and/or bilateral cases.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 0, "end": 6}], "disease": [{"text": "LCPD", "start": 39, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 0, "end": 6}, "tail": {"text": "LCPD", "start": 39, "end": 43}}]}}, "schema": []}
{"input": "The lack of PXR results in a severe repression of the Na/Pi cotransporter NaPi-IIb/Npt2b (SLC34A2), thus leading Pxr-/-males and females to develop a type of hypophosphatemia.", "output": {"entities": {"gene": [{"text": "SLC34A2", "start": 90, "end": 97}], "disease": [{"text": "hypophosphatemia", "start": 158, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The TWEAK-Fn14 signaling axis enhances lung cancer cell survival and therapeutic resistance through Mcl-1, positioning both TWEAK-Fn14 and Mcl-1 as therapeutic opportunities in lung cancer.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 4, "end": 9}], "disease": [{"text": "lung cancer", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We now show for the first time that, compared with controls, mice exposed prenatally to secondhand CS exhibit increased lung inflammation (predominant infiltration by eosinophils and polymorphs), atopy, and airway resistance, and produce proinflammatory cytokines (IL-4, IL-5, IL-6, and IL-13, but not IL-2 or IFN-gamma).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 287, "end": 292}], "disease": [{"text": "atopy", "start": 196, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "In the absence of clinical methods to quantitate the Ph +/Ph-progenitor ratio, we hypothesized that the pre-IM percentage of BCR-ABL + cells measured by fluorescence in situ hybridization (FISH) predicts for myelosuppression.", "output": {"entities": {"gene": [{"text": "FISH", "start": 189, "end": 193}], "disease": [{"text": "myelosuppression", "start": 208, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "microRNA (miR)-146b-5p inhibits NFκB-mediated inflammation by targeted repression of IRAK1 and TNF receptor-associated factor-6 (TRAF6).", "output": {"entities": {"gene": [{"text": "IRAK1", "start": 85, "end": 90}], "disease": [{"text": "inflammation", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "TSC", "start": 15, "end": 18}], "disease": [{"text": "squamous cell carcinoma", "start": 108, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TSC", "start": 15, "end": 18}, "tail": {"text": "squamous cell carcinoma", "start": 108, "end": 131}}]}}, "schema": []}
{"input": "Pediatric Ewing' s sarcoma (TC-32), neuroblastoma (IMR32 and KCNR), and glioblastoma (SF188) models were also highly sensitive to PLK1 inhibition.", "output": {"entities": {"gene": [{"text": "PLK1", "start": 130, "end": 134}], "disease": [{"text": "sarcoma", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "To determine whether there is gene-environment interaction between NAT2 polymorphisms, alone or in combination with mEH polymorphisms, and cumulative smoking exposure in the development of lung cancer, we conducted a case control study of 1115 Caucasian lung cancer patients and 1250 spouse and friend controls.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 67, "end": 71}], "disease": [{"text": "smoking", "start": 150, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Similar increase in XDH + XOD activity in plasma was observed after induction of acute pancreatitis and after i. v.", "output": {"entities": {"gene": [{"text": "XDH", "start": 20, "end": 23}], "disease": [{"text": "acute pancreatitis", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In APOA1 (-75)-APOA1 (+ 83) bilocus haplotypes, G-M2 (+) was associated (P = 0. 0001) with very high risk (OR 3. 173, 95% CI 1. 774 to 5. 674) for gallstone disease in males only.", "output": {"entities": {"gene": [{"text": "APOA1", "start": 3, "end": 8}], "disease": [{"text": "gallstone disease", "start": 147, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We show here that SAP mutants found in XLP patients are defective in binding its physiological ligands signaling lymphocyte activating molecule (SLAM), a co-receptor in T cell activation, and Fyn, a Src family protein tyrosine kinase.", "output": {"entities": {"gene": [{"text": "SAP", "start": 18, "end": 21}], "disease": [{"text": "XLP", "start": 39, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAP", "start": 18, "end": 21}, "tail": {"text": "XLP", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c. 2786T & gt; C mutation in GLI3, which predicts p. Leu929Pro.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 117, "end": 121}], "disease": [{"text": "acrocallosal syndrome", "start": 40, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLI3", "start": 117, "end": 121}, "tail": {"text": "acrocallosal syndrome", "start": 40, "end": 61}}]}}, "schema": []}
{"input": "This study evaluates the possibility of treating Bon1 and QGP pancreatic neuroendocrine tumor cells with radioactive iodide ((131) I) after stable transfection with the thyroid sodium iodide symporter (NIS).", "output": {"entities": {"gene": [{"text": "NIS", "start": 202, "end": 205}], "disease": [{"text": "pancreatic neuroendocrine tumor", "start": 62, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "An increased Ca2 +-buffering capacity of the sarcoplasmic reticulum lumen might counteract elevated cytosolic Ca2 + levels in diabetes thereby preventing Ca2 +-dependent myo-necrosis.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 13, "end": 16}], "disease": [{"text": "necrosis", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Concomitantly, epithelial cell proliferation and the expression of the G1/S cell cycle regulator CDK4 and c-myc were diminished in the polyps of Apc Min/+ Sphk1 (-/-) mice.", "output": {"entities": {"gene": [{"text": "Sphk1", "start": 155, "end": 160}], "disease": [{"text": "polyps", "start": 135, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In addition to numerical and structural chromosomal changes driven by genome instability in cancer cells, other mechanisms might be involved in MDR1 regional activation, such as chromatin remodeling and DNA or histone modifications of the 7q21 region.", "output": {"entities": {"gene": [{"text": "MDR1", "start": 144, "end": 148}], "disease": [{"text": "genome instability", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.", "output": {"entities": {"gene": [{"text": "TIE2", "start": 189, "end": 193}], "disease": [{"text": "blue rubber bleb nevus", "start": 30, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIE2", "start": 189, "end": 193}, "tail": {"text": "blue rubber bleb nevus", "start": 30, "end": 52}}]}}, "schema": []}
{"input": "Eighteen mutations in BRCA1 were detected in 11/28 breast/ovarian cancer families and 7/33 breast cancer families and none in the families with only two cases.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 22, "end": 27}], "disease": [{"text": "breast cancer", "start": 91, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 22, "end": 27}, "tail": {"text": "breast cancer", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "The TRAR4 gene locates in SCZD5 (MIM 603175), which a number of studies have linked with schizophrenia.", "output": {"entities": {"gene": [{"text": "MIM", "start": 33, "end": 36}], "disease": [{"text": "schizophrenia", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This study has investigated the patterns of membrane 2H4 (CD45RA) and UCHL1 (CD45RO) expression by CD4 + and CD8 + lymphocyte subpopulations in 10 adults and seven children with common variable immunodeficiency (CVI) and X-linked hypogammaglobulinaemia (XLA).", "output": {"entities": {"gene": [{"text": "CD4", "start": 58, "end": 61}], "disease": [{"text": "common variable immunodeficiency", "start": 178, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "GAB2 has previously been shown to mediate osteoclast differentiation, and osteoclasts are critical mediators of tumor-related osteolysis.", "output": {"entities": {"gene": [{"text": "GAB2", "start": 0, "end": 4}], "disease": [{"text": "osteolysis", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Campomelic dysplasia (CD; MIM 114290), an autosomal dominant skeletal malformation syndrome with XY sex reversal, is caused by heterozygous de novo mutations in and around the SOX9 gene on 17q.", "output": {"entities": {"gene": [{"text": "MIM", "start": 26, "end": 29}], "disease": [{"text": "sex reversal", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities.", "output": {"entities": {"gene": [{"text": "xanthine dehydrogenase", "start": 40, "end": 62}], "disease": [{"text": "Classical xanthinuria type I", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "xanthine dehydrogenase", "start": 40, "end": 62}, "tail": {"text": "Classical xanthinuria type I", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "CDH1 and NEUROG1 were more frequently methylated in extrahepatic cholangiocarcinoma than in intrahepatic cholangiocarcinoma, whereas CHFR, GSTP1, IGF2, MGMT, MINT31, p14, and RBP1 were more frequently methylated in intrahepatic cholangiocarcinoma: the differences was statistically significant (P <. 05).", "output": {"entities": {"gene": [{"text": "RBP1", "start": 175, "end": 179}], "disease": [{"text": "extrahepatic cholangiocarcinoma", "start": 52, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Moreover, potent pharmacologic inhibitors of MYC or EZH2 suppressed prostate cancer cell growth in vitro, and the knockdown of MST1 caused cells' resistance to MYC and EZH2 inhibitor-induced growth retardation.", "output": {"entities": {"gene": [{"text": "MST1", "start": 127, "end": 131}], "disease": [{"text": "growth retardation", "start": 191, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 63, "end": 67}], "disease": [{"text": "campomelic dysplasia", "start": 83, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 63, "end": 67}, "tail": {"text": "campomelic dysplasia", "start": 83, "end": 103}}]}}, "schema": []}
{"input": "Our results demonstrated for the first time that ischemia/reperfusion induced leptin and leptin receptor gene expression in the rat heart.", "output": {"entities": {"gene": [{"text": "leptin receptor gene", "start": 89, "end": 109}], "disease": [{"text": "ischemia", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation of the COL4A5 gene may present in this family as possible X-linked inheritance and a mild form of AS.", "output": {"entities": {"gene": [{"text": "COL4A5 gene", "start": 27, "end": 38}], "disease": [{"text": "mild", "start": 105, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of TGFBR1 and TGFBR2 are recommended.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 263, "end": 269}], "disease": [{"text": "cardiac murmur", "start": 149, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "To directly test the role of c-Rel in breast tumorigenesis, mice were generated in which overexpression of mouse c-rel cDNA was driven by the hormone-responsive mouse mammary tumor virus long terminal repeat (MMTV-LTR) promoter, and four founder lines identified.", "output": {"entities": {"gene": [{"text": "c-rel", "start": 113, "end": 118}], "disease": [{"text": "tumorigenesis", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Conversely, mice with targeted deletion of exon 4A (the first exon for KS-WNK1) exhibited Na (+) retention, elevated blood pressure on a high-Na (+) diet and increased surface expression of total and phosphorylated NCC and NKCC2 in respective nephron segments.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 223, "end": 228}], "disease": [{"text": "blood pressure", "start": 117, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Thus, RBP4 causes insulin resistance, at least partly, by activating AT APCs that induce CD4 T cell Th1 polarization and AT inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 100, "end": 103}], "disease": [{"text": "inflammation", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Studies in a murine model of the helminthic infection, schistosomiasis mansoni, led to the discovery of a novel fibrogenic protein, fibrosin.", "output": {"entities": {"gene": [{"text": "fibrosin", "start": 132, "end": 140}], "disease": [{"text": "helminthic infection", "start": 33, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The comparison of the staining intensity of the nm23-H1/NDP kinase in primary lesions of tumors with lymph node metastases and those without metastases revealed no statistically significant difference.", "output": {"entities": {"gene": [{"text": "NDP", "start": 56, "end": 59}], "disease": [{"text": "lymph node metastases", "start": 101, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Compared with chronic hepatitis, HCC patients had more frequent rs2275913 genotype GG (odds ratios [OR] 3. 317, 95% confidence interval [CI] 1. 663-6. 617, P = 0. 001) and allele G (OR 1. 844, 95% CI 1. 311-2. 595, P < 0. 001), and more frequent haplotypes CG (OR 1. 868, 95% CI 1. 256-2. 778, P = 0. 002) and TG (OR 1. 788, 95% CI 1. 031-3. 101, P = 0. 037) of rs8193036 and rs2275913.", "output": {"entities": {"gene": [{"text": "HCC", "start": 33, "end": 36}], "disease": [{"text": "chronic hepatitis", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into the role of IF proteins in podocytes, we investigated the expression of nestin, vimentin, and desmin in puromycin aminonucleoside (PAN) nephrosis.", "output": {"entities": {"gene": [{"text": "nestin", "start": 93, "end": 99}], "disease": [{"text": "nephrosis", "start": 157, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nestin", "start": 93, "end": 99}, "tail": {"text": "nephrosis", "start": 157, "end": 166}}]}}, "schema": []}
{"input": "Aberrant expression of viral oncoproteins may therefore promote tumourigenesis through increased somatic mutation and aneuploidy due to DDR inactivation.", "output": {"entities": {"gene": [{"text": "DDR", "start": 136, "end": 139}], "disease": [{"text": "aneuploidy", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, adipositas might be related to the MAPK8IP1 gene.", "output": {"entities": {"gene": [{"text": "MAPK8IP1 gene", "start": 48, "end": 61}], "disease": [{"text": "adipositas", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Taken together, RAD51 paralogs prevent degradation of stalled forks and promote the restart of halted replication to avoid replication fork collapse, thereby maintaining genomic integrity and suppressing tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 16, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 204, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.", "output": {"entities": {"gene": [{"text": "HSD3B2", "start": 128, "end": 134}], "disease": [{"text": "3beta-hydroxysteroid dehydrogenase deficiency", "start": 40, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD3B2", "start": 128, "end": 134}, "tail": {"text": "3beta-hydroxysteroid dehydrogenase deficiency", "start": 40, "end": 85}}]}}, "schema": []}
{"input": "Canonical WNT signals are transduced through Frizzled (FZD) family receptor and LRP5/LRP6 co-receptor to upregulate FGF20, JAG1, DKK1, WISP1, CCND1 and MYC genes for cell-fate determination, while non-canonical WNT signals are transduced through FZD family receptor and ROR2/PTK7/RYK co-receptor to activate RHOA/RHOU/RAC/CDC42, JNK, PKC, NLK and NFAT signaling cascades for the regulation of tissue polarity, cell movement, and adhesion.", "output": {"entities": {"gene": [{"text": "RAC", "start": 318, "end": 321}], "disease": [{"text": "adhesion", "start": 429, "end": 437}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction.", "output": {"entities": {"gene": [{"text": "UTR", "start": 118, "end": 121}], "disease": [{"text": "cervical cancer", "start": 170, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In the nervous system, the functions of NRG1 are essential for peripheral myelination, the establishment and maintenance of neuromuscular and sensorimotor systems and the plasticity of cortical neuronal circuits.", "output": {"entities": {"gene": [{"text": "NRG1", "start": 40, "end": 44}], "disease": [{"text": "nervous system", "start": 7, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "On the basis of the data presented here and in a previous study, we were able to establish highly significant correlations between the FBN1 mutation type and the MFS phenotype in a group of 76 mutation-positive patients for whom comprehensive clinical data were available.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 135, "end": 139}], "disease": [{"text": "MFS", "start": 162, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 135, "end": 139}, "tail": {"text": "MFS", "start": 162, "end": 165}}]}}, "schema": []}
{"input": "In summary, these results suggest that activating B-Raf mutations initially promote nevi development, but the resulting high, intense activation of the MAPK pathway inhibits further tumor progression requiring Akt3 activation to bypass this barrier and aid melanoma development.", "output": {"entities": {"gene": [{"text": "Akt3", "start": 210, "end": 214}], "disease": [{"text": "nevi", "start": 84, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "HCT-8 colon cancer cells secreted heat shock protein 90alpha (HSP90alpha) and had increased invasiveness upon serum starvation.", "output": {"entities": {"gene": [{"text": "HSP90alpha", "start": 62, "end": 72}], "disease": [{"text": "colon cancer", "start": 6, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "We used esophageal squamous cell lines from patients who had GERD with Barrett' s esophagus (normal esophageal squamous [NES]-B3T and NES-B10T) and without Barrett' s esophagus (NES-G2T and NES-G4T) to study effects of acid and bile salts on expression of the CDX2 gene.", "output": {"entities": {"gene": [{"text": "NES", "start": 121, "end": 124}], "disease": [{"text": "esophageal", "start": 8, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "OVA challenge induced severe airway resistance, inflammation, higher levels of IL-4, TNFα, IL-17A, TGFβ, GATA-3 and RORγT expression and increased Th2 and Th17 cells and IgE responses, but decreased IFNγ and IL-10 responses, T-bet and Foxp3 expression and Th1 and Tregs.", "output": {"entities": {"gene": [{"text": "Th1", "start": 155, "end": 158}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that increase in APPcc in CA1 neurons could be an early event leading to the translocation of SET and the progression of AD through tau hyperphosphorylation.", "output": {"entities": {"gene": [{"text": "CA1", "start": 45, "end": 48}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In this study we investigated the effect of TMP on lens opacification induced by sodium selenite in rats, addressing the potential of TMP eye drops to prevent and treat cataracts.", "output": {"entities": {"gene": [{"text": "TMP", "start": 44, "end": 47}], "disease": [{"text": "cataracts", "start": 169, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we postulate a dual function of OPN in intestinal inflammation: During acute inflammation OPN seems to activate innate immunity, reduces tissue damage and initiates mucosal repair whereas during chronic inflammation it promotes the Th1 response and strengthens inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 248, "end": 251}], "disease": [{"text": "inflammation", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The D52-86 is associated with varied phenotypes including pulmonary disease (pulmonary fibrosis) as the first presentation.", "output": {"entities": {"gene": [{"text": "D52", "start": 4, "end": 7}], "disease": [{"text": "pulmonary disease", "start": 58, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We conclude that cyclin D1 alterations are common in esophageal carcinomas but do not appear to be important in anal carcinogenesis.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 17, "end": 26}], "disease": [{"text": "esophageal", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Histological and biochemical iron overload has been reported in non-tumoral liver of most patients presenting an hepatocellular carcinoma (HCC) developed in non-cirrhotic liver (NCL).", "output": {"entities": {"gene": [{"text": "NCL", "start": 178, "end": 181}], "disease": [{"text": "iron overload", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The ratio of the CRH-RAR-alpha double-staining neurons to the CRH-immunoreactive neurons in affective disorder patients was also increased.", "output": {"entities": {"gene": [{"text": "RAR-alpha", "start": 21, "end": 30}], "disease": [{"text": "affective disorder", "start": 92, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAR-alpha", "start": 21, "end": 30}, "tail": {"text": "affective disorder", "start": 92, "end": 110}}]}}, "schema": []}
{"input": "We provide evidence that hypoxia inhibits CTGF synthesis in human proximal tubular epithelial cells, involving HIF-1alpha.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism of the interleukin 1 receptor antagonist (IL1Ra) gene and placental abruption.", "output": {"entities": {"gene": [{"text": "IL1Ra", "start": 55, "end": 60}], "disease": [{"text": "placental abruption", "start": 71, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The PGRN Leu271LeufsX10 mutation was found in 31% of corticobasal syndrome (CBS), 29% of frontotemporal dementia with motorneuron disease (FTD-MND), 15% of behavioral variant frontotemporal dementia (FTD), 9. 5% of primary progressive aphasia (PPA), 2% dementia with Lewy bodies and 0% of progressive supranuclear palsy and multiple system atrophy cases.", "output": {"entities": {"gene": [{"text": "CBS", "start": 76, "end": 79}], "disease": [{"text": "primary progressive aphasia", "start": 215, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "We examined 209 single-nucleotide polymorphisms (SNPs) covering 19 circadian genes (ADCYAP1, ARNTL, ARNTL2, BHLHB2, BHLHB3, CLOCK, CRY1, CRY2, CSNK1E, DBP, NPAS2, NR1D1, PER1, PER2, PER3, RORA, TIMELESS, VIP, and VIPR2) in a sample of 534 MD patients (335 with unipolar major mood depression (MDD) and 199 with bipolar disorder (BD)) and 440 community-based screened controls.", "output": {"entities": {"gene": [{"text": "DBP", "start": 151, "end": 154}], "disease": [{"text": "bipolar disorder", "start": 311, "end": 327}]}, "relations": {}}, "schema": []}
{"input": "Anaplerotic therapy in Mecp2 knockout mice also improved indicators of impaired substrate utilization, decreased adiposity, increased glucose tolerance and insulin sensitivity, decreased serum leptin and insulin, and improved mitochondrial morphology in skeletal muscle.", "output": {"entities": {"gene": [{"text": "Mecp2", "start": 23, "end": 28}], "disease": [{"text": "insulin sensitivity", "start": 156, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the RECQL-helicase gene BLM.", "output": {"entities": {"gene": [{"text": "RECQL", "start": 155, "end": 160}], "disease": [{"text": "chromosomal instability", "start": 67, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In contrast, ENL lesions represent immediate-type hypersensitivity reactions reflecting the selective stimulation of cytokines that attract neutrophils, stimulate antibody production, and down-regulate macrophage activation.", "output": {"entities": {"gene": [{"text": "ENL", "start": 13, "end": 16}], "disease": [{"text": "hypersensitivity reactions", "start": 50, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency.", "output": {"entities": {"gene": [{"text": "factor X", "start": 8, "end": 16}], "disease": [{"text": "factor X deficiency", "start": 98, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor X", "start": 8, "end": 16}, "tail": {"text": "factor X deficiency", "start": 98, "end": 117}}]}}, "schema": []}
{"input": "In the leukocyte adhesion deficiency (LAD)-1 syndrome, there is diminished expression of beta2 (CD18) integrins.", "output": {"entities": {"gene": [{"text": "CD18", "start": 96, "end": 100}], "disease": [{"text": "LAD)-1", "start": 38, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD18", "start": 96, "end": 100}, "tail": {"text": "LAD)-1", "start": 38, "end": 44}}]}}, "schema": []}
{"input": "Our results indicate that increase of systolic blood pressure (SBP) is favored by ACE I/D-D allele and advanced age, while alcohol consumption and aging are associated with high diastolic blood pressure (DBP).", "output": {"entities": {"gene": [{"text": "DBP", "start": 204, "end": 207}], "disease": [{"text": "systolic blood pressure", "start": 38, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The potency of these compounds on these features of apoptosis were in the order of HDB > HMDB > DBM in colorectal carcinoma COLO 205 cells.", "output": {"entities": {"gene": [{"text": "HDB", "start": 83, "end": 86}], "disease": [{"text": "colorectal carcinoma", "start": 103, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of MTDH expression in HCC cell lines resulted in downregulation of N-cadherin and snail, upregulation of E-cadherin, and translocation of β-catenin.", "output": {"entities": {"gene": [{"text": "HCC", "start": 32, "end": 35}], "disease": [{"text": "translocation", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, transfection of the human mammary tumor cell line, MCF-7, and the human mesothelioma cell line, H-MESO-1, with the PBGD-DNA-containing plasmids was shown to produce a 2. 5-2. 7-fold increase in enzyme activity.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 129, "end": 133}], "disease": [{"text": "mammary tumor", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Several genes (TGFbeta RII, IGFIIR, MSH3, MSH6, BAX, MBD4) with significance in tumorigenesis harbor repeats in their coding regions and are often somatically inactivated because of deletions causing frameshifts.", "output": {"entities": {"gene": [{"text": "MBD4", "start": 53, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in the esophagus cell lines, the normoxic and hypoxic expression levels of LOX and BNIP3 were below the detection limit in OE19 and OE33, respectively.", "output": {"entities": {"gene": [{"text": "LOX", "start": 88, "end": 91}], "disease": [{"text": "hypoxic", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Transient receptor potential cation channel-6 (TRPC6) is one of the proteins that plays a key role causing focal segmental glomerulosclerosis (FSGS) associated with the steroid-resistant nephritic syndrome (SRNS).", "output": {"entities": {"gene": [{"text": "TRPC6", "start": 47, "end": 52}], "disease": [{"text": "nephritic syndrome", "start": 187, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Neuritin has several effects in the nervous system, such as promoting neurite outgrowth, modulating neurite outgrowth during neuronal differentiation, protecting motor neuron axons, promoting dendritic growth, shaping dendritic arbors of target neurons, regulating synaptic plasticity, stabilizing active synapses, promoting synaptic maturation and neuronal migration, promoting the development and maturation of visual cortical neurons, regulating apoptosis of proliferative neurons, and regenerating peripheral nerve and spinal axons.", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 349, "end": 367}], "disease": [{"text": "nervous system", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "In a sequence analysis of the iduronate-2-sulfatase gene, evidence was obtained for the R468Q (G1403 to A) mutation, a common one in Hunter disease.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 30, "end": 51}], "disease": [{"text": "Hunter disease", "start": 133, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 30, "end": 51}, "tail": {"text": "Hunter disease", "start": 133, "end": 147}}]}}, "schema": []}
{"input": "Moreover, transfection of dominant negative MKP-1 cDNA led to p38 MAPK activation and PP2Acα down-regulation in U937 cells, while PP2A inhibitor attenuated caffeine-induced ERK inactivation and MKP-1 down-regulation.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 44, "end": 49}], "disease": [{"text": "caffeine", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The latter, biochemically defined association was confirmed in an independent population-based cohort of at-risk drinkers with a median alcohol intake of 300 g/week (OR 4. 75; P (genotype) = 0. 040; P (allelic) = 0. 022), and for aspartate aminotransferase (AST) levels.", "output": {"entities": {"gene": [{"text": "AST", "start": 258, "end": 261}], "disease": [{"text": "alcohol intake", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 62, "end": 66}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Molecular characterization of RET/PTC3; a novel rearranged version of the RETproto-oncogene in a human thyroid papillary carcinoma.", "output": {"entities": {"gene": [{"text": "PTC3", "start": 34, "end": 38}], "disease": [{"text": "thyroid papillary carcinoma", "start": 103, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTC3", "start": 34, "end": 38}, "tail": {"text": "thyroid papillary carcinoma", "start": 103, "end": 130}}]}}, "schema": []}
{"input": "A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.", "output": {"entities": {"gene": [{"text": "RUNX2", "start": 90, "end": 95}], "disease": [{"text": "cleidocranial dysplasia", "start": 10, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RUNX2", "start": 90, "end": 95}, "tail": {"text": "cleidocranial dysplasia", "start": 10, "end": 33}}]}}, "schema": []}
{"input": "PRTFDC1, a possible tumor-suppressor gene, is frequently silenced in oral squamous-cell carcinomas by aberrant promoter hypermethylation.", "output": {"entities": {"gene": [{"text": "PRTFDC1", "start": 0, "end": 7}], "disease": [{"text": "squamous-cell carcinomas", "start": 74, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRTFDC1", "start": 0, "end": 7}, "tail": {"text": "squamous-cell carcinomas", "start": 74, "end": 98}}]}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "breast cancer", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "breast cancer", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Thus, failure of activated PBMC to bind CD40-Ig is not an absolute diagnostic hallmark of XHIM and molecular analysis of the CD40L gene may be required for the correct diagnosis.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 125, "end": 130}], "disease": [{"text": "XHIM", "start": 90, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD40L", "start": 125, "end": 130}, "tail": {"text": "XHIM", "start": 90, "end": 94}}]}}, "schema": []}
{"input": "Moreover, we show that GA down regulates the levels of Fra-1 and c-Jun, two main components of AP1 transcription complex in invasive breast cancer cells and that AP1-specific inhibitor abrogates breast cancer cell invasion.", "output": {"entities": {"gene": [{"text": "AP1", "start": 95, "end": 98}], "disease": [{"text": "invasive breast cancer", "start": 124, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein E Sendai (arginine 145--& gt; proline): a new variant associated with lipoprotein glomerulopathy.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 0, "end": 16}], "disease": [{"text": "lipoprotein glomerulopathy", "start": 85, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Apolipoprotein E", "start": 0, "end": 16}, "tail": {"text": "lipoprotein glomerulopathy", "start": 85, "end": 111}}]}}, "schema": []}
{"input": "Ser-752--& gt; Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.", "output": {"entities": {"gene": [{"text": "integrin beta 3", "start": 57, "end": 72}], "disease": [{"text": "Glanzmann thrombasthenia", "start": 184, "end": 208}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "integrin beta 3", "start": 57, "end": 72}, "tail": {"text": "Glanzmann thrombasthenia", "start": 184, "end": 208}}]}}, "schema": []}
{"input": "Serum parameters like AFP, CEA, CA-125, IAP, LDH, SA, TGF-alpha, and M-CSF have been used as ovarian tumor markers.", "output": {"entities": {"gene": [{"text": "IAP", "start": 40, "end": 43}], "disease": [{"text": "ovarian tumor", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that activated PPARα can compete with GATA-4 binding to NFATc4, thereby decreasing transactivation of NFATc4, and interfering with ET-1 induced cardiomyocyte hypertrophy.", "output": {"entities": {"gene": [{"text": "GATA", "start": 58, "end": 62}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 164, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Infection of CD4 + T cells by HTLV-1 is therefore thought to play a pivotal role in HTLV-1-related pathogenicity, including leukemia/lymphoma of CD4 + T cells and chronic inflammatory diseases.", "output": {"entities": {"gene": [{"text": "CD4", "start": 13, "end": 16}], "disease": [{"text": "leukemia", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Demonstration of disrupted cholesterol homeostasis in this select group of patients provides further evidence of the involvement of the immune system in atherogenesis and may inform us of the role of CD36 in the general atherogenic process.", "output": {"entities": {"gene": [{"text": "CD36", "start": 200, "end": 204}], "disease": [{"text": "atherogenesis", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 23, "end": 27}], "disease": [{"text": "CS", "start": 83, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 23, "end": 27}, "tail": {"text": "CS", "start": 83, "end": 85}}]}}, "schema": []}
{"input": "In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 140, "end": 145}], "disease": [{"text": "hypochondroplasia", "start": 55, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 140, "end": 145}, "tail": {"text": "hypochondroplasia", "start": 55, "end": 72}}]}}, "schema": []}
{"input": "Moreover, our data demonstrated that the functional transformation of hypoxia-induced autophagy, pro-survival to pro-death, was rigorously regulated by the switch between hypoxia-inducible factor-1α (HIF-1α) and mammalian target of rapamycin (mTOR) pathways.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 212, "end": 241}], "disease": [{"text": "hypoxia", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Association of ApoE and LRP mRNA levels with dementia and AD neuropathology.", "output": {"entities": {"gene": [{"text": "LRP", "start": 24, "end": 27}], "disease": [{"text": "dementia", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "G6PD deficiency, variations at nts 388 and 521 of OATP2 gene, and variations at nt-211 and in the promoter area of UGT1A1 gene were reported to be the risk factors for the occurrence of mild hyperbilirubinemia amongst Taiwanese adults.", "output": {"entities": {"gene": [{"text": "OATP2", "start": 50, "end": 55}], "disease": [{"text": "mild", "start": 186, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to evaluate the association between peroxisome proliferator activated receptor (PPAR) α and PPARγ polymorphisms, two genes involved in lipid metabolism and adipocyte differentiation, and elements of the metabolic syndrome, lipodystrophy, or carbohydrate metabolism abnormalities in patients receiving HAART.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 113, "end": 117}], "disease": [{"text": "abnormalities", "start": 298, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "Increasing numbers of either ERCC1 118 or XRCC1 399 variant alleles were associated with shorter survival of non-smoking female lung adenocarcinoma patients (Log-rank P < 0. 001).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 42, "end": 47}], "disease": [{"text": "smoking", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In mouse models of acute and chronic colitis, oral administration of Elafin-expressing LAB decreased elastolytic activity and inflammation and restored intestinal homeostasis.", "output": {"entities": {"gene": [{"text": "Elafin", "start": 69, "end": 75}], "disease": [{"text": "inflammation", "start": 126, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 12, "end": 18}], "disease": [{"text": "DSC", "start": 95, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 12, "end": 18}, "tail": {"text": "DSC", "start": 95, "end": 98}}]}}, "schema": []}
{"input": "With increasing visfatin tertiles, patients proved to be more often anorectic (P < 0. 05) and to have incrementally lower serum albumin, cholesterol and triglycerides as well as lower essential and non-essential serum amino acids (P < 0. 05 for all).", "output": {"entities": {"gene": [{"text": "visfatin", "start": 16, "end": 24}], "disease": [{"text": "anorectic", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We investigated the relationship between IGF1 promoter cytosine-adenine (CA) dinucleotide-repeat polymorphism length and CRC risk in 121 MMR gene mutation carriers using Cox regression and Kaplan-Meier analysis.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 41, "end": 45}], "disease": [{"text": "regression", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In asymptomatic sickle cell patients the upward deviation of mean serum IL-8 levels was significantly greater in Duffy-negatives (n = 20) than in Duffy-positives (n = 8) (P = 0. 011).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 72, "end": 76}], "disease": [{"text": "asymptomatic", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that variation within genes on the serotonin pathway, particularly HTR3A, may have modest effects on autism risk.", "output": {"entities": {"gene": [{"text": "HTR3A", "start": 86, "end": 91}], "disease": [{"text": "autism", "start": 120, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HTR3A", "start": 86, "end": 91}, "tail": {"text": "autism", "start": 120, "end": 126}}]}}, "schema": []}
{"input": "In addition, our results allow for the possibility that controlled overexpression of RCAN1-1L in the striatal region of the brain might be a viable avenue for therapeutic intervention in Huntington disease patients (and perhaps other polyglutamine expansion disorders).", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 85, "end": 90}], "disease": [{"text": "Huntington disease", "start": 187, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RCAN1", "start": 85, "end": 90}, "tail": {"text": "Huntington disease", "start": 187, "end": 205}}]}}, "schema": []}
{"input": "The distribution of TNFRSF11B haplotypes significantly differed in sporadic PDB cases and controls (chi (2) = 30. 2, df = 9, p < 0. 001) because of over-representation of haplotypes containing the G1181 allele in cases.", "output": {"entities": {"gene": [{"text": "TNFRSF11B", "start": 20, "end": 29}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Because loss of signaling mediated by TP53 is associated with the development and survival of many human tumors, identification of gene expression profiles in morphologically normal cells that carry \" one-hit \" p53 mutations may reveal novel biomarkers, enabling the discovery of potential targets for chemoprevention of sporadic tumors as well.", "output": {"entities": {"gene": [{"text": "p53", "start": 211, "end": 214}], "disease": [{"text": "sporadic", "start": 321, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "To investigate the mechanism of hyperinsulinaemia in rats with acute liver failure induced by the administration of d-galactosamine (GalN), we focused on the role of polyprimidine tract-binding protein (PTB) in islet insulin synthesis.", "output": {"entities": {"gene": [{"text": "GalN", "start": 133, "end": 137}], "disease": [{"text": "hyperinsulinaemia", "start": 32, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "NDG could effectively inhibit the stereotyped behaviors in TS rats, and the mechanisms may be related to the suppression of DA system by increasing the content of HVA in sera, decrease the content of DA and repressing the expression of DRD2 mRNA in striatum.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 236, "end": 240}], "disease": [{"text": "stereotyped behaviors", "start": 34, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the mRNA levels of the hMSH2 and hMLH1 components of the mismatch DNA repair (MMR) system in 29 unselected frozen pairs of primary non-small cell lung carcinomas (NSCLCs) and their adjacent normal tissue (ANTs) specimens by quantitative real-time PCR analysis relative to housekeeping Porphobilinogen deaminase (hPBGD) mRNA.", "output": {"entities": {"gene": [{"text": "Porphobilinogen deaminase", "start": 298, "end": 323}], "disease": [{"text": "carcinomas", "start": 164, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The immune-related pathways, ribosome pathway, immune-related genes including (HLA-DRB1, HLA-DPA1, HLA-DPB1, HLA-DOA and HLA-DRA) and ribosome-related genes (RPL31, RPS3A and RPL9) might be involved in systemic vasculitis.", "output": {"entities": {"gene": [{"text": "RPL31", "start": 158, "end": 163}], "disease": [{"text": "systemic vasculitis", "start": 202, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "In cardiomyopathic hamsters with heart failure, the atrial levels of immunoreactive ANF are decreased while the plasma and ventricular levels are increased.", "output": {"entities": {"gene": [{"text": "ANF", "start": 84, "end": 87}], "disease": [{"text": "heart failure", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The distribution of DR3 and DR4 risk alleles was not associated with cardiovascular autonomic neuropathy both in patients with normal albumin excretion rate and microalbuminuria (1. 6 vs 2. 1; p = 0. 21).", "output": {"entities": {"gene": [{"text": "DR4", "start": 28, "end": 31}], "disease": [{"text": "autonomic neuropathy", "start": 84, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Macrophage scavenger receptor A (SR-A) and class B scavenger receptor CD36 (CD36) contribute to foam cell formation and atherogenesis via uptake of modified lipoproteins.", "output": {"entities": {"gene": [{"text": "CD36", "start": 70, "end": 74}], "disease": [{"text": "atherogenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The EWS/Fli-1 fusion gene, a product of the translocation t (11; 22) (q24; 12), is detected in 95% of ES patients.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The levels of plasma Ang II and endoxin were all obvious positive correlation with systolic blood pressure (SBP) and diastolic blood pressure (DBP) (Ang II: r = 0. 5151, 0. 7978; endoxin: r = 0. 4706, 0. 7274, respectively).", "output": {"entities": {"gene": [{"text": "DBP", "start": 143, "end": 146}], "disease": [{"text": "systolic blood pressure", "start": 83, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "When overexpressed in breast cancer cells, these forms of cyclin E induce genomic instability, resistance to inhibition by p21 and p27, and resistance to antiestrogen therapy.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 58, "end": 66}], "disease": [{"text": "genomic instability", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In patients with the presence of at least one unfavourable cytogenetic abnormality (deletion of 13q14, deletion of 17p13, aberrations of 11q), a significantly increased BM MVD was observed (254 +/-93 vs. 160 +/-60 in patients with absence of these abnormalities; P = 0. 0035).", "output": {"entities": {"gene": [{"text": "MVD", "start": 172, "end": 175}], "disease": [{"text": "abnormalities", "start": 248, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "An important role for CX3CL1 in neuroinflammation and neurodegeneration has been suggested in recent publications.", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 22, "end": 28}], "disease": [{"text": "neurodegeneration", "start": 54, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) polymorphisms in susceptibility to bladder cancer: the influence of smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 46, "end": 50}], "disease": [{"text": "smoking", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Diabetic mice, which typically show impaired postischemic muscular neovascularization and blood perfusion recovery, have these defects corrected by intramuscular gene transfer of a dominant negative mutant form of p75 (NTR).", "output": {"entities": {"gene": [{"text": "NTR", "start": 219, "end": 222}], "disease": [{"text": "neovascularization", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "A stepwise procedure identified rs17885289, rs266085 and 3'-untranslated region (UTR) SNP rs266093 as the most parsimonious subset of SNPs necessary to define the haplotype inversely associated with cervical cancer risk in our study.", "output": {"entities": {"gene": [{"text": "UTR", "start": 81, "end": 84}], "disease": [{"text": "cervical cancer", "start": 199, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).", "output": {"entities": {"gene": [{"text": "mucopolysaccharidosis type IIIA", "start": 91, "end": 122}], "disease": [{"text": "Sanfilippo A", "start": 124, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mucopolysaccharidosis type IIIA", "start": 91, "end": 122}, "tail": {"text": "Sanfilippo A", "start": 124, "end": 136}}]}}, "schema": []}
{"input": "By demonstrating that the HACE1-OPTN axis synergistically suppresses growth and tumorigenicity of lung cancer cells, our findings may open an avenue for developing autophagy-targeted therapeutic intervention into cancer.", "output": {"entities": {"gene": [{"text": "HACE1", "start": 26, "end": 31}], "disease": [{"text": "lung cancer", "start": 98, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We observed that the Mcl-1 protein is widely expressed in human sarcoma cell lines of different histological origin (n = 7).", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 21, "end": 26}], "disease": [{"text": "sarcoma", "start": 64, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mcl-1", "start": 21, "end": 26}, "tail": {"text": "sarcoma", "start": 64, "end": 71}}]}}, "schema": []}
{"input": "In conclusion, we could not find evidence of association between RGS4, PRODH, COMT and GRK3 genes and bipolar affective disorder 1 in the Scottish population.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 71, "end": 76}], "disease": [{"text": "bipolar affective disorder", "start": 102, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRODH", "start": 71, "end": 76}, "tail": {"text": "bipolar affective disorder", "start": 102, "end": 128}}]}}, "schema": []}
{"input": "At various points before and after the infusion, blood samples were withdrawn and analyzed by means of whole-blood flow cytometry to evaluate expression of inflammation-associated adhesion molecules (CD11b, CD11a, CD49d, and CD62L) and CD14 on the leukocytes.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 207, "end": 212}], "disease": [{"text": "adhesion", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "In spite of a homozygous abnormality of the insulin receptor gene and many of the clinical features of severe insulin resistance, the proband' s clinical syndrome was noticeably different from previously described patients with leprechaunism who usually die within the first six months of life.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 44, "end": 60}], "disease": [{"text": "leprechaunism", "start": 228, "end": 241}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 44, "end": 60}, "tail": {"text": "leprechaunism", "start": 228, "end": 241}}]}}, "schema": []}
{"input": "Naive CD4 + T cells in blood increased during the initial 2 weeks in parallel with reduced plasma viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 6, "end": 9}], "disease": [{"text": "viremia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF.", "output": {"entities": {"gene": [{"text": "GFRA2", "start": 317, "end": 322}], "disease": [{"text": "eosinophilia", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of STK15 with coordinate loss of wild-type p53 function thus appears to play an important role in ovarian tumorigenesis and offers a novel molecular target in designing effective therapy of human ovarian cancer.", "output": {"entities": {"gene": [{"text": "STK15", "start": 18, "end": 23}], "disease": [{"text": "tumorigenesis", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Thus once on the cell surface, LPL-N9 enhances bridging, as assessed both by LDL binding and internalisation, and monocyte adhesion.", "output": {"entities": {"gene": [{"text": "LPL", "start": 31, "end": 34}], "disease": [{"text": "adhesion", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "COMMD1-deficient dogs progressively develop copper-induced chronic hepatitis.", "output": {"entities": {"gene": [{"text": "COMMD1", "start": 0, "end": 6}], "disease": [{"text": "chronic hepatitis", "start": 59, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COMMD1", "start": 0, "end": 6}, "tail": {"text": "chronic hepatitis", "start": 59, "end": 76}}]}}, "schema": []}
{"input": "Moreover, acute thrombosis induced by the i. v. injection of sublethal doses of collagen and phenylephrine produced a smaller fall in the number of circulating platelets in Podxl-null mice than in control mice.", "output": {"entities": {"gene": [{"text": "Podxl", "start": 173, "end": 178}], "disease": [{"text": "thrombosis", "start": 16, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Podxl", "start": 173, "end": 178}, "tail": {"text": "thrombosis", "start": 16, "end": 26}}]}}, "schema": []}
{"input": "The child mutated for p. R296G presented with a generally more severe phenotype than the p. S309G carrier (obesity, compulsive eating, neonatal hypotonia versus overweight only), while both mutations had strong loss-of-function effects on SIM1 transcriptional activity.", "output": {"entities": {"gene": [{"text": "SIM1", "start": 239, "end": 243}], "disease": [{"text": "neonatal hypotonia", "start": 135, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In addition, the ME of B. microstachya (3--300 mg kg (-1), i. p., 30 min earlier) inhibited, in a graded manner, the hyperalgesia induced by bradykinin (3. 2 microg/paw), substance P (13. 5 microg/paw), carrageenan (300 microg/paw), capsaicin (100 microg/paw) and adrenaline (100 ng/paw) in the rat paw, with mean ID50 values of 20. 5, 17. 9, 101. 8, 54. 2 and 99. 7 mg kg (-1), respectively.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 141, "end": 151}], "disease": [{"text": "hyperalgesia", "start": 117, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 141, "end": 151}, "tail": {"text": "hyperalgesia", "start": 117, "end": 129}}]}}, "schema": []}
{"input": "Significant pulmonary hypertension developed 3 weeks after the administration of MCT, but gene therapy with CYP2J2 significantly attenuated the development of pulmonary hypertension and pulmonary vascular remodeling, without causing changes in systemic arterial pressure or heart rate.", "output": {"entities": {"gene": [{"text": "CYP2J2", "start": 108, "end": 114}], "disease": [{"text": "pulmonary hypertension", "start": 12, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In this work we investigated about the presence of a correlation between a (CA) n repeat located in exon 29 of NOS1 gene and the beta-thalassemia trait in Corsica Island (France).", "output": {"entities": {"gene": [{"text": "NOS1 gene", "start": 111, "end": 120}], "disease": [{"text": "beta-thalassemia", "start": 129, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 130, "end": 134}], "disease": [{"text": "renal coloboma syndrome", "start": 185, "end": 208}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX2", "start": 130, "end": 134}, "tail": {"text": "renal coloboma syndrome", "start": 185, "end": 208}}]}}, "schema": []}
{"input": "Transcriptional silencing of secreted frizzled related protein 1 (SFRP 1) by promoter hypermethylation in non-small-cell lung cancer.", "output": {"entities": {"gene": [{"text": "frizzled related protein", "start": 38, "end": 62}], "disease": [{"text": "lung cancer", "start": 121, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In the multiplicative model, from the genetic factors, GSTM1-null and NAT2 * 6B had a statistically significant influence on the risk for CRC, while from the environmental factors, smoking and diet had similar effects.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 70, "end": 74}], "disease": [{"text": "smoking", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "These data show that combined MYC activation and Pten loss driven by the Hoxb13 regulatory locus synergize to induce genomic instability and aggressive prostate cancer that phenocopies the human disease at the histologic and genomic levels.", "output": {"entities": {"gene": [{"text": "Hoxb13", "start": 73, "end": 79}], "disease": [{"text": "genomic instability", "start": 117, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Celecoxib-elicited PPARγ translocation was inhibited by NS-398.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 19, "end": 24}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "GM-CSF with biochemotherapy (cisplatin, DTIC, tamoxifen, IL-2 and interferon-alpha): a phase I trial in melanoma.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 0, "end": 6}], "disease": [{"text": "melanoma", "start": 104, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GM-CSF", "start": 0, "end": 6}, "tail": {"text": "melanoma", "start": 104, "end": 112}}]}}, "schema": []}
{"input": "Therefore we tested TRAIL and Tarolidine (TRD), two substances with apoptogenic properties on human fibrosarcoma (HT1080).", "output": {"entities": {"gene": [{"text": "TRD", "start": 42, "end": 45}], "disease": [{"text": "fibrosarcoma", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Mitogen-activated protein kinase kinase 7 (MKK7) induces cardiac hypertrophy by activating the c-Juns NH2-terminal kinases (JNK).", "output": {"entities": {"gene": [{"text": "MKK7", "start": 43, "end": 47}], "disease": [{"text": "cardiac hypertrophy", "start": 57, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "HIV-1-specific CD4 + T-cell responses are not associated with significant viral epitope variation in persons with persistent plasma viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 15, "end": 18}], "disease": [{"text": "viremia", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We measured interventricular (difference of QT intervals between LV and RV type leads) and transmural electrocardiographic dispersion of repolarization from 25-lead electrocardiograms in nine asymptomatic KCNQ1 mutation carriers (LQT1) and eight controls during rest, Valsalva maneuver, mental stress, sustained handgrip and supine exercise.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 205, "end": 210}], "disease": [{"text": "asymptomatic", "start": 192, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The analysis of the isotype of the G immunoglobulins raised against the immunodominant determinants of the PSA indicates that both IgG1 and IgG2 classes are produced during natural infections but that the IgG2 predominates over that of the IgG1.", "output": {"entities": {"gene": [{"text": "PSA", "start": 107, "end": 110}], "disease": [{"text": "infections", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "TNF-α, IL-6, and CRP showed strong correlations with the MetS components and insulin resistance but not relevant predictive values according to ROC curves (AUC values 0. 544-0. 555).", "output": {"entities": {"gene": [{"text": "CRP", "start": 17, "end": 20}], "disease": [{"text": "insulin resistance", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Concordantly, the treatment of SMNΔ7 mice with hyperoxia treatment increased the inclusion of SMN2 exon 7 in skeletal muscles and resulted in improved motor function.", "output": {"entities": {"gene": [{"text": "SMN2", "start": 94, "end": 98}], "disease": [{"text": "hyperoxia", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Sufu mutants mice had high Gli activity, due to loss of Sufu, disrupting the regulatory loop and migration of enteric NCCs, leading to defective axonal fasciculation, delayed gut colonization, or intestinal hypoganglionosis.", "output": {"entities": {"gene": [{"text": "Sufu", "start": 0, "end": 4}], "disease": [{"text": "hypoganglionosis", "start": 207, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that (1) fetal oliguria secondary to indomethacin is mediated through the stimulation of the renal arginine vasopressin V2-receptor and (2) prostaglandin synthesis inhibition may play a role in renal tubular sodium handling.", "output": {"entities": {"gene": [{"text": "arginine vasopressin V2-receptor", "start": 121, "end": 153}], "disease": [{"text": "oliguria", "start": 37, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "arginine vasopressin V2-receptor", "start": 121, "end": 153}, "tail": {"text": "oliguria", "start": 37, "end": 45}}]}}, "schema": []}
{"input": "Plasma level of TNF-alpha or sTNFR was of little value in predicting the occurrence of early septic shock in ASP.", "output": {"entities": {"gene": [{"text": "ASP", "start": 109, "end": 112}], "disease": [{"text": "septic shock", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We investigated the cooperativity of these two pathways in countering cyclin E-induced genomic instability in primary human cells.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 70, "end": 78}], "disease": [{"text": "genomic instability", "start": 87, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Numerous mRNAs and miRNAs in the blood were significantly up-or down-regulated in animals developing pathological changes in the lung after MCA/corn oil administration followed by MWCNT/air inhalation, including fcrl5 and miR-122-5p in the presence of hyperplasia, mthfd2 and miR-206-3p in the presence of fibrosis, fam178a and miR-130a-3p in the presence of bronchiolo-alveolar adenoma, and il7r and miR-210-3p in the presence of bronchiolo-alveolar adenocarcinoma, among others.", "output": {"entities": {"gene": [{"text": "miR-130a", "start": 328, "end": 336}], "disease": [{"text": "bronchiolo-alveolar adenocarcinoma", "start": 431, "end": 465}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-130a", "start": 328, "end": 336}, "tail": {"text": "bronchiolo-alveolar adenocarcinoma", "start": 431, "end": 465}}]}}, "schema": []}
{"input": "Based on recent studies supporting an increasingly relevant role for the critical vasomodulatory protein endothelial nitric oxide synthase (eNOS) in aneurysm pathobiology, the authors assayed blood from all 197 participants to determine and compare their eNOS genotypes.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 105, "end": 138}], "disease": [{"text": "aneurysm", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that during the initiation of R. aurantiacus-induced inflammation, IL-4 deficiency attenuates cytokine responses in macrophages, which contributes to amelioration in mouse survival and reduction of granulomatous inflammation, and augments a hepatic IFN-γ response which transiently accelerates bacterial elimination.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 91, "end": 95}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Diabetic neonates exhibited a kidney weight-to-body weight ratio higher than that of control rats, together with decreased IGF-I and increased IGF-II renal concentration.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 123, "end": 128}], "disease": [{"text": "body weight", "start": 47, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates, for the first time, that SHIP2 is frequently downregulated in gastric cancer, and reduced SHIP2 expression promotes tumorigenesis and proliferation of gastric cancer via activation of the PI3K/Akt signaling.", "output": {"entities": {"gene": [{"text": "SHIP2", "start": 50, "end": 55}], "disease": [{"text": "tumorigenesis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "IL-4 abrogates T (H) 17 cell-mediated inflammation by selective silencing of IL-23 in antigen-presenting cells.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The role of the TP53 gene in the development of inherited and sporadic pheochromocytomas and medullary thyroid carcinomas (MTC) has not been clarified because of conflicting reports and limitations in the assays used to detect mutations.", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 16, "end": 25}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "ABH positive tumors were usually diploid, but ABH negative ones were more evenly aneuploid or diploid.", "output": {"entities": {"gene": [{"text": "ABH", "start": 0, "end": 3}], "disease": [{"text": "aneuploid", "start": 81, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Prolactin rise after a fall in blood-pressure.", "output": {"entities": {"gene": [{"text": "Prolactin", "start": 0, "end": 9}], "disease": [{"text": "fall in blood-pressure", "start": 23, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prolactin", "start": 0, "end": 9}, "tail": {"text": "fall in blood-pressure", "start": 23, "end": 45}}]}}, "schema": []}
{"input": "Together, these findings provide new insight into the underlying molecular mechanisms of depression and antidepressant action, and support the antidepressant potential of HDAC inhibitors and perhaps other agents that act at the level of chromatin structure.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 171, "end": 175}], "disease": [{"text": "depression", "start": 89, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC", "start": 171, "end": 175}, "tail": {"text": "depression", "start": 89, "end": 99}}]}}, "schema": []}
{"input": "In the pooled analysis, there was a significant interaction between smoking, NAT2 genotype, and risk of breast cancer [pack-years (continuous variable, P (interaction) = 0. 03)], with higher pack-years significantly associated with an increased risk of breast cancer among women with NAT2 slow genotypes (pooled analysis relative risk, 1. 49; 95% confidence interval, 1. 08-2. 04).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 77, "end": 81}], "disease": [{"text": "smoking", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Finally, we show that miR-7 introduction inhibits the motility, invasiveness, anchorage-independent growth, and tumorigenic potential of highly invasive breast cancer cells.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 22, "end": 27}], "disease": [{"text": "invasive breast cancer", "start": 144, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The suppression of REV3L expression enhanced the sensitivity of cervical cancer cells to cisplatin, and the overexpression of REV3L conferred resistance to cisplatin as evidenced by the alteration of apoptosis rates, and significantly expression level changes of anti-apoptotic proteins B-cell lymphoma 2 (Bcl-2), myeloid cell leukemia sequence 1 (Mcl-1) and B-cell lymphoma-extra large (Bcl-xl) and proapoptotic Bcl-2-associated x protein (Bax).", "output": {"entities": {"gene": [{"text": "Bcl-xl", "start": 388, "end": 394}], "disease": [{"text": "cervical cancer", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Based on the oncogenic role of phosphatidylinositol glycan (PIG) class U in human tumors, we explored the role of two additional subunits of the glycosylphosphatidylinositol (GPI) transamidase complex in human breast cancer.", "output": {"entities": {"gene": [{"text": "GPI", "start": 175, "end": 178}], "disease": [{"text": "tumors", "start": 82, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The clinical outcome of contralateral prophylactic mastectomy (CPM) in women with a BRCA1 or BRCA2 mutation and a personal history of invasive breast cancer is unknown.", "output": {"entities": {"gene": [{"text": "CPM", "start": 63, "end": 66}], "disease": [{"text": "invasive breast cancer", "start": 134, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Desmoplastic small round cell tumor (DSRCT) is characterized by the presence of a fusion protein EWS/WT1, arising from the t (11; 22) (p13; q12) translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 97, "end": 100}], "disease": [{"text": "translocation", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Recognized precursor lesions for gastric adenocarcinoma are intestinal metaplasia and spasmolytic polypeptide expressing metaplasia (SPEM), defined here by ectopic CDX2 and TFF2 expression, respectively.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 173, "end": 177}], "disease": [{"text": "metaplasia", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "SLCO1B1 * 5 genotype and female sex were associated mild statin-induced side effects.", "output": {"entities": {"gene": [{"text": "SLCO1B1", "start": 0, "end": 7}], "disease": [{"text": "mild", "start": 52, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "PRRT2 mutations occur more frequently in familial forms of PRRT2-related syndromes (80-100%) than in sporadic cases (33-46%) suggesting further heterogeneity in the latter.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In this study we identified mutations in the DAX-1 gene of two patients with AHC.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 45, "end": 50}], "disease": [{"text": "AHC", "start": 77, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 45, "end": 50}, "tail": {"text": "AHC", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "More recently, it transpires that SOX9 becomes expressed and induces destructive ECM components in organ fibrosis and related disorders.", "output": {"entities": {"gene": [{"text": "ECM", "start": 81, "end": 84}], "disease": [{"text": "fibrosis", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained.", "output": {"entities": {"gene": [{"text": "KHK", "start": 37, "end": 40}], "disease": [{"text": "fructosuria", "start": 83, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KHK", "start": 37, "end": 40}, "tail": {"text": "fructosuria", "start": 83, "end": 94}}]}}, "schema": []}
{"input": "In a rat model of pressure-overload hypertrophy, we examined whether activation of MAPK pathways, namely, the extracellular signal-regulated protein kinase (ERK), c-Jun NH (2)-terminal kinase (JNK), and the p38-MAPK pathways, occurs during rapid changes in hemodynamic load in vivo.", "output": {"entities": {"gene": [{"text": "JNK", "start": 193, "end": 196}], "disease": [{"text": "hypertrophy", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "FSH receptor, KL1/2, P450, and PAPP genes in granulosa-lutein cells from in vitro fertilization patients show a different expression pattern depending on the infertility diagnosis.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 0, "end": 12}], "disease": [{"text": "infertility", "start": 158, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The impaired sorting profile to the apical membrane of human intestinal sucrase-isomaltase is the underlying cause in the pathogenesis of a novel phenotype of intestinal congenital sucrase-isomaltase deficiency.", "output": {"entities": {"gene": [{"text": "sucrase-isomaltase", "start": 72, "end": 90}], "disease": [{"text": "congenital sucrase-isomaltase deficiency", "start": 170, "end": 210}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "sucrase-isomaltase", "start": 72, "end": 90}, "tail": {"text": "congenital sucrase-isomaltase deficiency", "start": 170, "end": 210}}]}}, "schema": []}
{"input": "Moreover, patients with high immunoreactivity of ABHD2 showed low cancer-specific survival rates and a resistance to docetaxel-based chemotherapy.", "output": {"entities": {"gene": [{"text": "ABHD2", "start": 49, "end": 54}], "disease": [{"text": "cancer", "start": 66, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The expression of TLR4 in 30 specimens of chronic calculous cholecystitis, 13 specimens of gallbladder adenocarcinoma and 10 specimens of normal gallbladder tissue was determined by immunohistochemistry, western blotting analysis and quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 18, "end": 22}], "disease": [{"text": "cholecystitis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "After adjustment for age, sex, waist-hip ratio, and mean blood pressure both AdipoR1 and AdipoR2 mRNA remained independent determinants of PWV (R (2) = 0. 35 and R (2) = 0. 57, P < 0. 05).", "output": {"entities": {"gene": [{"text": "AdipoR1", "start": 77, "end": 84}], "disease": [{"text": "waist-hip ratio", "start": 31, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Two novel UBR1 gene mutations & #305; n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.", "output": {"entities": {"gene": [{"text": "UBR1", "start": 10, "end": 14}], "disease": [{"text": "Johanson Blizzard Syndrome", "start": 55, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBR1", "start": 10, "end": 14}, "tail": {"text": "Johanson Blizzard Syndrome", "start": 55, "end": 81}}]}}, "schema": []}
{"input": "Older age (P =. 007), clinical Stage B or C disease (P <. 001), unmutated immunoglobulin (Ig) VH gene status (P <. 001), genetic abnormalities (P <. 001), positive CD38 status (P <. 001), and type of initial therapy were associated with a significantly shorter time to first infection.", "output": {"entities": {"gene": [{"text": "CD38", "start": 164, "end": 168}], "disease": [{"text": "abnormalities", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "RT-PCR validation confirmed that two miRNAs, miR-497 in SZ samples and miR-29c in BD samples, have significantly increased expression when compared to control samples.", "output": {"entities": {"gene": [{"text": "miR-497", "start": 45, "end": 52}], "disease": [{"text": "SZ", "start": 56, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-497", "start": 45, "end": 52}, "tail": {"text": "SZ", "start": 56, "end": 58}}]}}, "schema": []}
{"input": "The study suggests that an incremental expression of EMT-related genes in CTCs is associated with metastatic castration-resistant cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 53, "end": 56}], "disease": [{"text": "resistant cancer", "start": 120, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 44, "end": 48}], "disease": [{"text": "B-ALL", "start": 64, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ETV6", "start": 44, "end": 48}, "tail": {"text": "B-ALL", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "Here we show decreasing the levels of CTR1 (Cu transporter 1), or mutations in MEK1 that disrupt Cu binding, decreased BRAF (V600E)-driven signalling and tumorigenesis in mice and human cell settings.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 79, "end": 83}], "disease": [{"text": "tumorigenesis", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "AdipoR1 and AdipoR2 mRNAs were increased in monocytes of obese controls and T2D patients when compared to normal-weight controls, and AdipoR1 mRNA positively correlated to AdipoR2 mRNA, the waist to hip ratio and systemic adiponectin.", "output": {"entities": {"gene": [{"text": "AdipoR1", "start": 0, "end": 7}], "disease": [{"text": "waist to hip ratio", "start": 190, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "We determined loss of heterozygosity in the patched and p53 loci as well as sequencing the p53 gene in tumors both from sporadic and hereditary cases.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 91, "end": 99}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Immunophenotypic analyses revealed that blasts were positive for CD19, CD79a, and cytCD22, as well as MPO, CD13, and CD33, fulfilling the diagnostic criteria of mixed phenotype acute leukemia, B/myeloid.", "output": {"entities": {"gene": [{"text": "CD79a", "start": 71, "end": 76}], "disease": [{"text": "mixed phenotype acute leukemia", "start": 161, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "In addition, group 3 NB cell lines were different from group 1 and 2, in terms of serum starvation-induced caspase 3 cleavage and picropodophyllin-induced G2/M arrest.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 107, "end": 116}], "disease": [{"text": "starvation", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Various clinicopathologic characteristics of HBCs arising in patients with BRCA1 or BRCA2 germline mutations were compared with those of the control group (sporadic breast carcinomas).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 84, "end": 89}], "disease": [{"text": "sporadic", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "This approach revealed a homozygous frameshift mutation, 2470insG, in exon 19 of COL7A1 and resulted in attenuated basement membrane zone expression of type VII collagen, a reduced number of anchoring fibrils at the dermal-epidermal junction, and a sub-lamina densa level of blister formation.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 81, "end": 87}], "disease": [{"text": "blister", "start": 275, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Inactivating mutations of the caspase-10 gene in gastric cancer.", "output": {"entities": {"gene": [{"text": "caspase-10", "start": 30, "end": 40}], "disease": [{"text": "gastric cancer", "start": 49, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "caspase-10", "start": 30, "end": 40}, "tail": {"text": "gastric cancer", "start": 49, "end": 63}}]}}, "schema": []}
{"input": "The primary PCR amplified CYP21-specific DNA fragments, and the secondary PCR used products from the primary PCR for analysis of amplification-created restriction sites (ACRS) and direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 26, "end": 31}], "disease": [{"text": "secondary", "start": 64, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In this study, we assessed the association between UCP1 genotypes and systolic blood pressure (SBP) and diastolic blood pressure (DBP), in a population comprised of 832 Korean female subjects, using a general linear model, which was adjusted for age and body mass index (BMI).", "output": {"entities": {"gene": [{"text": "DBP", "start": 130, "end": 133}], "disease": [{"text": "systolic blood pressure", "start": 70, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients.", "output": {"entities": {"gene": [{"text": "NF1", "start": 62, "end": 65}], "disease": [{"text": "NF1", "start": 161, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 62, "end": 65}, "tail": {"text": "NF1", "start": 161, "end": 164}}]}}, "schema": []}
{"input": "Since placental trisomy 16 as well as cases with increased alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) are associated with (intrauterine growth retardation (IUGR), oligohydramnios, and fetal demise, at least some cases with this atypical biochemical profile could be explained by this chromosomal abnormality.", "output": {"entities": {"gene": [{"text": "AFP", "start": 78, "end": 81}], "disease": [{"text": "chromosomal abnormality", "start": 304, "end": 327}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first \" schizophrenic \" episode of psychosis.", "output": {"entities": {"gene": [{"text": "CD45", "start": 58, "end": 62}], "disease": [{"text": "psychosis", "start": 216, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD45", "start": 58, "end": 62}, "tail": {"text": "psychosis", "start": 216, "end": 225}}]}}, "schema": []}
{"input": "We have reported that overexpression of copper/zinc superoxide dismutase (SOD1) reduced superoxide production and ameliorated neuronal injury in the hippocampal CA1 subregion after global ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 161, "end": 164}], "disease": [{"text": "ischemia", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we hypothesized that BDG consumption improves inflammatory markers and insulin sensitivity in overweight and obese subjects with moderately increased levels of C-reactive protein, indicating subclinical inflammation.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 171, "end": 189}], "disease": [{"text": "insulin sensitivity", "start": 82, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietin receptor contributes to melanoma cell survival in vivo.", "output": {"entities": {"gene": [{"text": "Erythropoietin receptor", "start": 0, "end": 23}], "disease": [{"text": "melanoma", "start": 39, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Erythropoietin receptor", "start": 0, "end": 23}, "tail": {"text": "melanoma", "start": 39, "end": 47}}]}}, "schema": []}
{"input": "Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).", "output": {"entities": {"gene": [{"text": "myosin VIIA", "start": 81, "end": 92}], "disease": [{"text": "DFNA11", "start": 149, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myosin VIIA", "start": 81, "end": 92}, "tail": {"text": "DFNA11", "start": 149, "end": 155}}]}}, "schema": []}
{"input": "The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 200, "end": 205}], "disease": [{"text": "pigment", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization, loss of heterozygosity testing, and comparative genomic hybridization have been used to detect NF2 gene alterations in both sporadic and neurofibromatosis type 2 (NF2)-associated central nervous system tumors.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 131, "end": 139}], "disease": [{"text": "sporadic", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we also show that certain families and individuals with CS do not have mutations in the coding sequence of MMAC1.", "output": {"entities": {"gene": [{"text": "MMAC1", "start": 120, "end": 125}], "disease": [{"text": "CS", "start": 69, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MMAC1", "start": 120, "end": 125}, "tail": {"text": "CS", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "Angiotensin-converting enzyme (ACE) gene I/D polymorphism, apolipoprotein E (ApoE) gene polymorphism, methylenetetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism, and beta fibrinogen (Fgbeta) gene 148C/T polymorphism were analyzed in 100 patients and 100 matched controls.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 59, "end": 75}], "disease": [{"text": "fibrinogen", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Radiovirotherapy of xenograft LNCaP tumors with Ad5/3PB-ADP-hNIS showed the most significant survival extension versus control tumors (p = 0. 001), but the benefit of radiovirotherapy was not statistically significant compared with virotherapy alone in this model.", "output": {"entities": {"gene": [{"text": "ADP", "start": 56, "end": 59}], "disease": [{"text": "tumors", "start": 36, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The role of the orphan G protein-coupled receptor 37 (GPR37) in multiple myeloma cells.", "output": {"entities": {"gene": [{"text": "GPR37", "start": 54, "end": 59}], "disease": [{"text": "multiple myeloma", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.", "output": {"entities": {"gene": [{"text": "calpain 3", "start": 36, "end": 45}], "disease": [{"text": "limb-girdle muscular dystrophy type 2A", "start": 52, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "calpain 3", "start": 36, "end": 45}, "tail": {"text": "limb-girdle muscular dystrophy type 2A", "start": 52, "end": 90}}]}}, "schema": []}
{"input": "Protease-activated receptor (PAR) 2, but not PAR1, signaling promotes the development of mammary adenocarcinoma in polyoma middle T mice.", "output": {"entities": {"gene": [{"text": "PAR1", "start": 45, "end": 49}], "disease": [{"text": "mammary adenocarcinoma", "start": 89, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p. (Ala507Ser) and c. 401-1G > A, and we describe eye defects associated with this gene for the first time.", "output": {"entities": {"gene": [{"text": "PNPT1", "start": 94, "end": 99}], "disease": [{"text": "microcephaly", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of 44 individuals with NBS; these mutations were confirmed to be de novo when parental samples were available.", "output": {"entities": {"gene": [{"text": "SMARCA2", "start": 54, "end": 61}], "disease": [{"text": "NBS", "start": 101, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCA2", "start": 54, "end": 61}, "tail": {"text": "NBS", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "Our findings demonstrate that DLL4 mutations are an additional cause of autosomal-dominant AOS or isolated ACC and provide further evidence for a key role of NOTCH signaling in the etiology of this disorder.", "output": {"entities": {"gene": [{"text": "DLL4", "start": 30, "end": 34}], "disease": [{"text": "ACC", "start": 107, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DLL4", "start": 30, "end": 34}, "tail": {"text": "ACC", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "We identified three germline inactivating mutations of the CDC73 gene in the probands and affected patients of the three kindreds, but also in some asymptomatic subjects.", "output": {"entities": {"gene": [{"text": "CDC73 gene", "start": 59, "end": 69}], "disease": [{"text": "asymptomatic", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to investigate the hypothesis that diaphragmatic DES expression is decreased in fetal rats with nitrofen-induced CDH.", "output": {"entities": {"gene": [{"text": "DES", "start": 73, "end": 76}], "disease": [{"text": "CDH", "start": 137, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DES", "start": 73, "end": 76}, "tail": {"text": "CDH", "start": 137, "end": 140}}]}}, "schema": []}
{"input": "Recombinant human elafin protects airway epithelium integrity during inflammation.", "output": {"entities": {"gene": [{"text": "elafin", "start": 18, "end": 24}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of FLAP (but not inhibition of 5-LO) reduced proteinuria, with no effect on estimated glomerular filtration rate.", "output": {"entities": {"gene": [{"text": "5-LO", "start": 42, "end": 46}], "disease": [{"text": "proteinuria", "start": 56, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "LMNA mutations represent the most prevalent genetic DCM cause.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 0, "end": 4}], "disease": [{"text": "DCM", "start": 52, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 0, "end": 4}, "tail": {"text": "DCM", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "ATRA is not protective but instead aggravates cryoglobulinaemic MPGN and its systemic manifestations in TSLP tg mice.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 104, "end": 108}], "disease": [{"text": "MPGN", "start": 64, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TSLP", "start": 104, "end": 108}, "tail": {"text": "MPGN", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "Serial chimerism analyses indicate that mixed haemopoietic chimerism influences the probability of graft rejection and disease recurrence following allogeneic stem cell transplantation (SCT) for severe aplastic anaemia (SAA): indication for routine assessment of chimerism post SCT for SAA.", "output": {"entities": {"gene": [{"text": "SAA", "start": 220, "end": 223}], "disease": [{"text": "aplastic anaemia", "start": 202, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "The following parameters were monitored: platelets (PLT), fibrinogen (Fib), D-dimer (D-D), activated partial thromboplastin time (APTT), prothrombin time (PT), tumor necrosis factor-a (TNF-a), interferon-g (IFN-g), interleukin-1b (IL-1b), creatinine (Cr), alanine aminotransferase (ALT), creatinine kinase-MB (CK-MB), and endothelin (ET).", "output": {"entities": {"gene": [{"text": "IL-1b", "start": 231, "end": 236}], "disease": [{"text": "fibrinogen", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "To define the role of BRCA2 in sporadic breast and ovarian cancer, we screened the entire gene for mutations using a combination of techniques in 70 primary breast carcinomas and in 55 primary epithelial ovarian carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 22, "end": 27}], "disease": [{"text": "sporadic", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Although adenovirus particles were insensitive to recombinant group V and X sPLA2s, direct addition of these enzymes to 293A cells suppressed both number and size of adenovirus plaque formation.", "output": {"entities": {"gene": [{"text": "sPLA2s", "start": 76, "end": 82}], "disease": [{"text": "plaque", "start": 177, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We provide evidence that TG2 is an important link in IL-6-mediated tumor aggressiveness, and that TG2 could be an important mediator of distant metastasis, both in a xenograft animal model and in patients with advanced breast cancer.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 53, "end": 57}], "disease": [{"text": "aggressiveness", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The biological activities of LNP-siRNA, including the cellular uptake, CDK4 expression and G (1) cell cycle arrest, in both HeLa cervical cancer and MDA-MB-468 breast cancer cells were evaluated by flow cytometry, confocal microscopy, quantitative reverse transcription PCR (qRT-PCR) and Western blotting, respectively.", "output": {"entities": {"gene": [{"text": "LNP", "start": 29, "end": 32}], "disease": [{"text": "cervical cancer", "start": 129, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-4 (IL4) is an anti-inflammatory cytokine that may play a role in the inflammation pathology observed surrounding senile plaques, and may also associate with Alzheimer' s disease (AD) pathogenesis.", "output": {"entities": {"gene": [{"text": "IL4", "start": 15, "end": 18}], "disease": [{"text": "inflammation", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "ARB treatment also significantly ameliorated increased glomerular p27 (Kip1) expression in diabetes mellitus as assessed by immunohistochemistry (P < 0. 01).", "output": {"entities": {"gene": [{"text": "p27", "start": 66, "end": 69}], "disease": [{"text": "diabetes mellitus", "start": 91, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22. 1.", "output": {"entities": {"gene": [{"text": "C14orf160", "start": 62, "end": 71}], "disease": [{"text": "L-2-Hydroxyglutaric aciduria", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C14orf160", "start": 62, "end": 71}, "tail": {"text": "L-2-Hydroxyglutaric aciduria", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "Cardiac dysfunction and myocardial hypertrophy of the diabetic rats were associated with increased mRNA and protein expression of iNOS, OBRb, and PKCɛ, while expression of CASQ2, SERCA2a, and FKBP12. 6 was significantly down-regulated.", "output": {"entities": {"gene": [{"text": "FKBP12. 6", "start": 192, "end": 201}], "disease": [{"text": "hypertrophy", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In cultured primary lymphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylation of the downstream targets, p38 and ERK1/2, and enhanced binding of RHOA to the MAP3K1 complex.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 194, "end": 198}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Although PTB incidence was significantly higher in patients who developed grade 3-4 neutropenia than in those who did not, PTB was not associated with grade 3-4 diarrhea.", "output": {"entities": {"gene": [{"text": "PTB", "start": 9, "end": 12}], "disease": [{"text": "neutropenia", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We suggest that in 2K1C, COX-1 and PGES expression may fail to oppose the effects of renovascular hypertension through reduced prostaglandin signaling in late distal tubule and cortical collecting duct.", "output": {"entities": {"gene": [{"text": "PGES", "start": 35, "end": 39}], "disease": [{"text": "renovascular hypertension", "start": 85, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2 +-ATPase in myotonic dystrophy type 1.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 103, "end": 106}], "disease": [{"text": "myotonic dystrophy", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We report that autoimmune regulator (Aire), a transcriptional regulator, is inducibly expressed in human and mouse tumor keratinocytes in a K17-dependent manner and is required for timely onset of Gli2-induced skin tumorigenesis in mice.", "output": {"entities": {"gene": [{"text": "K17", "start": 140, "end": 143}], "disease": [{"text": "tumorigenesis", "start": 215, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Associations with canonical pathways previously shown to be involved in AD were also observed, such as dehydrogenases 1A (ADH1A), ADH7, aldehyde dehydrogenases 3B2 (ALDH3B2) and cytochrome P450 2A13.", "output": {"entities": {"gene": [{"text": "ALDH3B2", "start": 165, "end": 172}], "disease": [{"text": "AD", "start": 72, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH3B2", "start": 165, "end": 172}, "tail": {"text": "AD", "start": 72, "end": 74}}]}}, "schema": []}
{"input": "Thus, our data provide new insight into RA pathogenesis and provide evidence that inflammatory cytokines trigger a cytokine amplification loop via IL-6-STAT3 that promotes sustained inflammation and joint destruction.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 152, "end": 157}], "disease": [{"text": "inflammation", "start": 182, "end": 194}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STAT3", "start": 152, "end": 157}, "tail": {"text": "inflammation", "start": 182, "end": 194}}]}}, "schema": []}
{"input": "We detail here the clinical description and the family genetic study of a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features and a combination of two rare genetic variants: a maternally inherited 16p13. 11-p12. 3 duplication and a de novo 12p12. 1 deletion affecting SOX5.", "output": {"entities": {"gene": [{"text": "p12", "start": 266, "end": 269}], "disease": [{"text": "dysmorphic features", "start": 165, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "These observations raise the possibility that a regulatory program controlled in inhibitory interneurons by the NPAS1 and NPAS3 transcription factors may be either substantively or tangentially relevant to psychosis.", "output": {"entities": {"gene": [{"text": "NPAS1", "start": 112, "end": 117}], "disease": [{"text": "psychosis", "start": 206, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS1", "start": 112, "end": 117}, "tail": {"text": "psychosis", "start": 206, "end": 215}}]}}, "schema": []}
{"input": "Activities of GSH-Px, SOD, and CAT which did not change after exposure to hyperoxia were increased by MT (P < 0. 05).", "output": {"entities": {"gene": [{"text": "CAT", "start": 31, "end": 34}], "disease": [{"text": "hyperoxia", "start": 74, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The Conradi-Hünermann-Happle (CHH) syndrome (X-chromosomal dominant chondrodysplasia punctata type II; MIM 302960) is an X-linked dominant disorder that is characterized by ichthyosis, chondrodysplasia punctata, cataracts and short stature.", "output": {"entities": {"gene": [{"text": "MIM", "start": 103, "end": 106}], "disease": [{"text": "ichthyosis", "start": 173, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "BRCA2 tumors had significantly more frequently low cyclin D1 expression (68%) than sporadic or familial non-BRCA1/2 tumors and significantly more frequently high cyclin E expression than familial non-BRCA1/2 tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We previously found that, in patients with a PRKCSH mutation, over 76% of the cysts acquired a somatic' second-hit' mutation in the wild type PRKCSH allele.", "output": {"entities": {"gene": [{"text": "PRKCSH", "start": 45, "end": 51}], "disease": [{"text": "hit", "start": 111, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "To determine the incidence and genotypes of the calpain 3 (p94) gene mutations in Japanese LGMD patients, we sequenced the gene in 80 patients with clinical characteristics of autosomal recessive or sporadic LGMD.", "output": {"entities": {"gene": [{"text": "p94", "start": 59, "end": 62}], "disease": [{"text": "sporadic", "start": 199, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Both TAP1 and TAP2 expression levels in the autologous tumor were minimal, yet were upregulated 7-to 18-fold, respectively, by interferon-gamma.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 14, "end": 18}], "disease": [{"text": "tumor", "start": 55, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "There is increasing evidence that BRCA1 and BRCA2 associated tumors may differ from sporadic cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 44, "end": 49}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We compared immunoreactive protein and relative gene expression of ABCG2 and Bmi-1 in eight cell lines derived from source tissues ranging in disease severity from normal (OKF6-TERT2) through mild and moderate/severe dysplasia (DOK, POE-9n) to OSCC (PE/CA-PJ15, SCC04, SCC25, SCC09, SCC15).", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 67, "end": 72}], "disease": [{"text": "mild", "start": 192, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We further demonstrate that overexpression of DSCR1 and ZAKI-4 inhibits calcineurin-dependent gene transcription through the inhibition of NF-AT translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "ZAKI-4", "start": 56, "end": 62}], "disease": [{"text": "translocation", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The effects of Sonic hedgehog (Shh) signaling pathway activation on S-type neuroblastoma (NB) cell lines and its role in NB tumorigenesis were investigated.", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 15, "end": 29}], "disease": [{"text": "neuroblastoma", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Using a model in which rhesus macaques were infected with chimeric simian-human immunodeficiency viruses (SHIVs), we show that both the level of viremia and the structure of the HIV-1 envelope glycoprotein ectodomains individually contributed to the efficiency with which CD4 (+) T lymphocytes were depleted.", "output": {"entities": {"gene": [{"text": "CD4", "start": 272, "end": 275}], "disease": [{"text": "viremia", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Association between SNPs and autism was only detected for PITX1.", "output": {"entities": {"gene": [{"text": "PITX1", "start": 58, "end": 63}], "disease": [{"text": "autism", "start": 29, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PITX1", "start": 58, "end": 63}, "tail": {"text": "autism", "start": 29, "end": 35}}]}}, "schema": []}
{"input": "The protumorigenic and fibroinflammatory effects of MyD88 inhibition are mediated by dendritic cells (DCs), which induce pancreatic antigen-restricted Th2-deviated CD4 (+) T cells and promote the transition from pancreatitis to carcinoma.", "output": {"entities": {"gene": [{"text": "CD4", "start": 164, "end": 167}], "disease": [{"text": "carcinoma", "start": 228, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Fasting adiponectin, leptin, insulin resistance (homeostasis model assessment, HOMA-IR), testosterone, estradiol, sex hormone binding globulin (SHBG), LH and FSH were determined in 144 newly-diagnosed histologically confirmed breast cancer patients and 77 controls.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 144, "end": 148}], "disease": [{"text": "insulin resistance", "start": 29, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "BRCA2-defective cells show a high degree of chromosome instability.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "chromosome instability", "start": 44, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "This pilot phase II study was designed to determine the efficacy, toxicities, and biological activity of multiple hepatic arterial injections of recombinant adenovirus p53 (rAd-p53) and 5-fluorouracil (5-FU) after transcatheter arterial chemoembolization (TACE) when compared with TACE alone in patients with unresectable hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 348, "end": 351}], "disease": [{"text": "unresectable hepatocellular carcinoma", "start": 309, "end": 346}]}, "relations": {}}, "schema": []}
{"input": "The remaining 3 probands with GNRHR mutations were from a subgroup of 18 patients without evidence of familial involvement, indicating a prevalence of 3 of 18 (16. 7%) in patients with sporadic IHH and a normal sense of smell.", "output": {"entities": {"gene": [{"text": "GNRHR", "start": 30, "end": 35}], "disease": [{"text": "sporadic", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "The use of human zymogen protein C in our patient with heterozygous protein C deficiency during the perioperative period of a THA was associated with no evidence of excessive bleeding, hematoma, deep venous thrombosis, or pulmonary embolism.", "output": {"entities": {"gene": [{"text": "protein C", "start": 25, "end": 34}], "disease": [{"text": "hematoma", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.", "output": {"entities": {"gene": [{"text": "BLK", "start": 36, "end": 39}], "disease": [{"text": "systemic lupus erythematosus", "start": 87, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLK", "start": 36, "end": 39}, "tail": {"text": "systemic lupus erythematosus", "start": 87, "end": 115}}]}}, "schema": []}
{"input": "Thus, resistance of Pin1 KO mice to hepatic steatosis is partially attributable to the lack of Pin1-induced down-regulation of peroxisome proliferator-activated receptor α, although multiple other mechanisms are apparently involved.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 20, "end": 24}], "disease": [{"text": "hepatic steatosis", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe length of the short tandem repeat aromatase (CYP19A1) polymorphism and its relationship to increased weight and sperm count.", "output": {"entities": {"gene": [{"text": "CYP19A1", "start": 63, "end": 70}], "disease": [{"text": "increased weight", "start": 109, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Hypoxic-ischemic injury, which mimics stroke, has been shown to result in changes in connexins (Cxs), however, changes in Cxs have not been studied in the P10 hypoxia model.", "output": {"entities": {"gene": [{"text": "P10", "start": 155, "end": 158}], "disease": [{"text": "stroke", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The DNA repair enzyme XRCC1 is a potential treatment predictor for the outcome and survival of anthracycline and cyclophosphamide/methotrexate/5-fluorouracil-based chemotherapy of invasive breast cancer.", "output": {"entities": {"gene": [{"text": "DNA repair enzyme", "start": 4, "end": 21}], "disease": [{"text": "invasive breast cancer", "start": 180, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa.", "output": {"entities": {"gene": [{"text": "AURKC", "start": 32, "end": 37}], "disease": [{"text": "polyploid", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In this study, 12 sporadic SSC were assessed for the presence of allelic deletions on the p53 and BRCA1 gene loci.", "output": {"entities": {"gene": [{"text": "p53", "start": 90, "end": 93}], "disease": [{"text": "sporadic", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Placental growth factor is rapidly produced in infarct myocardium, especially by endothelial cells during the acute phase of myocardial infarction.", "output": {"entities": {"gene": [{"text": "Placental growth factor", "start": 0, "end": 23}], "disease": [{"text": "infarct", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In the present study we investigated the diagnostic and prognostic significance of alterations in expression of EB1 in oral cancer.", "output": {"entities": {"gene": [{"text": "EB1", "start": 112, "end": 115}], "disease": [{"text": "oral cancer", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Laminin & #947;-1 was decreased in MV and increased in M. In conclusion, similarities and differences in oxidative stress in the different aortopathies studied including pathologies with aneurysms were found with alterations in SOD, CAT, GPx, GST, and eNOS activity that modify subendothelial basement membrane proteins.", "output": {"entities": {"gene": [{"text": "SOD", "start": 228, "end": 231}], "disease": [{"text": "MV", "start": 35, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD", "start": 228, "end": 231}, "tail": {"text": "MV", "start": 35, "end": 37}}]}}, "schema": []}
{"input": "Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 20, "end": 24}], "disease": [{"text": "Budd-Chiari Syndrome", "start": 60, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "JAK2", "start": 20, "end": 24}, "tail": {"text": "Budd-Chiari Syndrome", "start": 60, "end": 80}}]}}, "schema": []}
{"input": "Significant CD4 recover and HIV viremia suppression were reached in a mean period of three to six months in all treated patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 12, "end": 15}], "disease": [{"text": "viremia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Our study shows that PPP2R2C is downregulated in glioma cells and human brain cancer patient samples.", "output": {"entities": {"gene": [{"text": "PPP2R2C", "start": 21, "end": 28}], "disease": [{"text": "glioma", "start": 49, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Using microglial BV2 cells, we demonstrate that hypoxia induces the expression, translocation, and release of CIRP, which is associated with an increase of TNF-α levels.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 156, "end": 161}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In pancreatic cancer cells constitutively expressing mda-7/IL-24 mRNA, a single treatment with arsenic trioxide, HPR or NSC656240 induces apoptosis, which correlates with production of MDA-7/IL-24 protein.", "output": {"entities": {"gene": [{"text": "mda-7", "start": 53, "end": 58}], "disease": [{"text": "pancreatic cancer", "start": 3, "end": 20}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "mda-7", "start": 53, "end": 58}, "tail": {"text": "pancreatic cancer", "start": 3, "end": 20}}]}}, "schema": []}
{"input": "Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.", "output": {"entities": {"gene": [{"text": "hMLH1", "start": 42, "end": 47}], "disease": [{"text": "colorectal cancer", "start": 69, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMLH1", "start": 42, "end": 47}, "tail": {"text": "colorectal cancer", "start": 69, "end": 86}}]}}, "schema": []}
{"input": "Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 83, "end": 94}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The TNC signaling pathway plays an important role in mammary tumor growth and metastases, suggesting that TNC may be a relevant target for therapy against metastatic breast cancer.", "output": {"entities": {"gene": [{"text": "TNC", "start": 4, "end": 7}], "disease": [{"text": "mammary tumor", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Additive effect of the mutations in the beta3-adrenoceptor gene and UCP3 gene promoter on body fat distribution and glycemic control after weight reduction in overweight subjects with CAD or metabolic syndrome.", "output": {"entities": {"gene": [{"text": "beta3", "start": 40, "end": 45}], "disease": [{"text": "weight reduction", "start": 139, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c. 305 & #160; A & #160; & gt; & #160; G, p. Asp102Gly; and c. 2626delG, p. Val876Tyrfs * 16) were identified in the compound heterozygous state, thus broadening the mutational spectrum of the disease.", "output": {"entities": {"gene": [{"text": "FREM1", "start": 204, "end": 209}], "disease": [{"text": "MOTA", "start": 71, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FREM1", "start": 204, "end": 209}, "tail": {"text": "MOTA", "start": 71, "end": 75}}]}}, "schema": []}
{"input": "Functional annotation clustering based on whole-genome expression profiling revealed pathways upregulated in PD-L1 (+) melanomas, involving immune cell activation, inflammation, and antigen processing and presentation.", "output": {"entities": {"gene": [{"text": "PD-L1", "start": 109, "end": 114}], "disease": [{"text": "inflammation", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The increases in NK-3R mRNA in the cerebellum point to the development of receptor supersensitivity and suggest a functional role of NKB in this animal model of epilepsy.", "output": {"entities": {"gene": [{"text": "NKB", "start": 133, "end": 136}], "disease": [{"text": "epilepsy", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In contrast, there were low levels of EGFR expression in chronic cervicitis (1/10) and low-grade CIN (7/16).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 38, "end": 42}], "disease": [{"text": "chronic cervicitis", "start": 57, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 31, "end": 42}], "disease": [{"text": "X-linked immunodeficiency with hyper-IgM", "start": 50, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD40 ligand", "start": 31, "end": 42}, "tail": {"text": "X-linked immunodeficiency with hyper-IgM", "start": 50, "end": 90}}]}}, "schema": []}
{"input": "Mutations in PTF1A cause pancreatic and cerebellar agenesis.", "output": {"entities": {"gene": [{"text": "PTF1A", "start": 13, "end": 18}], "disease": [{"text": "pancreatic and cerebellar agenesis", "start": 25, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTF1A", "start": 13, "end": 18}, "tail": {"text": "pancreatic and cerebellar agenesis", "start": 25, "end": 59}}]}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) polymorphism is associated with treatment resistant depression.", "output": {"entities": {"gene": [{"text": "Vascular endothelial growth factor", "start": 0, "end": 34}], "disease": [{"text": "treatment resistant depression", "start": 74, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Vascular endothelial growth factor", "start": 0, "end": 34}, "tail": {"text": "treatment resistant depression", "start": 74, "end": 104}}]}}, "schema": []}
{"input": "Our data indicate that resveratrol modulates the effect of MED28 on cellular migration, presumably through the EGFR/phosphatidylinositol 3-kinase (PI3K) signaling pathway, in breast cancer cells.", "output": {"entities": {"gene": [{"text": "MED28", "start": 59, "end": 64}], "disease": [{"text": "breast cancer", "start": 175, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MED28", "start": 59, "end": 64}, "tail": {"text": "breast cancer", "start": 175, "end": 188}}]}}, "schema": []}
{"input": "In patients with hippocampal sclerosis, the number of cells expressing sst2 receptor mRNA as well as sst2 receptor-binding sites and immunoreactivity decreased significantly in the CA1-3, reflecting neuronal loss.", "output": {"entities": {"gene": [{"text": "CA1", "start": 181, "end": 184}], "disease": [{"text": "hippocampal sclerosis", "start": 17, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).", "output": {"entities": {"gene": [{"text": "DAT1", "start": 109, "end": 113}], "disease": [{"text": "conduct disorder", "start": 198, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Association between + 936 C > T gene polymorphism of vascular endothelial growth factor and lung cancer: a meta-analysis.", "output": {"entities": {"gene": [{"text": "T gene", "start": 30, "end": 36}], "disease": [{"text": "lung cancer", "start": 92, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Here we discuss emerging concepts concerning nm23, such as its varied pattern of alteration/expression in tumor metastasis, its effect on tumorigenesis, and its possible biochemical functions.", "output": {"entities": {"gene": [{"text": "nm23", "start": 45, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In this double-blind multicentre phase II trial patients with wild-type BRAF melanoma were randomized (1: 1) to docetaxel with selumetinib or placebo.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 72, "end": 76}], "disease": [{"text": "blind", "start": 15, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "In this study, 67 sporadic CRC and eight samples of normal bowel were analysed for MSI status (by SSCP) and levels of MLH1, MSH2 and p53 gene transcription (by RT-PCR and scanning densitometry).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 124, "end": 128}], "disease": [{"text": "sporadic", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We genotyped 23 single nucleotide polymorphisms (SNPs) in the PDYN and OPRK1 genes in 816 alcohol-dependent subjects and investigated their association with: (1) negative craving measured by a subscale of the Inventory of Drug Taking Situations; (2) a self-reported history of depression; (3) the intensity of depressive symptoms measured by the Beck Depression Inventory-II.", "output": {"entities": {"gene": [{"text": "OPRK1", "start": 71, "end": 76}], "disease": [{"text": "depressive symptoms", "start": 310, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Previously, we reported a strong evidence of linkage between D2S171 microsatellite marker (located in vicinity of FKBP1B gene) and susceptibility to autoimmune thyroid diseases (AITDs).", "output": {"entities": {"gene": [{"text": "FKBP1B gene", "start": 114, "end": 125}], "disease": [{"text": "thyroid diseases", "start": 160, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The tumor suppressor EAF2 is regulated by androgen signaling and associated with prostate cancer.", "output": {"entities": {"gene": [{"text": "EAF2", "start": 21, "end": 25}], "disease": [{"text": "prostate cancer", "start": 81, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The tumour suppressor gene phosphatase and tensin homologue deleted from chromosome 10 (PTEN) located on chromosome 10q23 plays an important role in different cancer, but its relevance for MPM is unclear.", "output": {"entities": {"gene": [{"text": "tensin", "start": 43, "end": 49}], "disease": [{"text": "cancer", "start": 159, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We further show that deletion of a single retinoic acid receptor alpha (Rara) allele in a Trim24-null background suppresses HCC development and restores wild-type expression of retinoic acid-responsive genes in the liver, thus demonstrating that in this genetic background Rara expresses an oncogenic activity correlating with a dysregulation of the retinoic acid signaling pathway.", "output": {"entities": {"gene": [{"text": "Trim24", "start": 90, "end": 96}], "disease": [{"text": "HCC", "start": 124, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Trim24", "start": 90, "end": 96}, "tail": {"text": "HCC", "start": 124, "end": 127}}]}}, "schema": []}
{"input": "Owing to the role of the nuclear phosphoprotein p53 in the regulation of neurodegeneration and neurodevelopmental processes, some authors have suggested TP53 as a candidate gene for schizophrenia and/or the neurocognitive deficits commonly observed in these patients.", "output": {"entities": {"gene": [{"text": "TP53", "start": 153, "end": 157}], "disease": [{"text": "neurodegeneration", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination.", "output": {"entities": {"gene": [{"text": "PGM3", "start": 45, "end": 49}], "disease": [{"text": "atopy", "start": 90, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Complete sequencing of the two Mn-SOD expression forms unambiguously characterizes this enzyme from a tumor cell line providing evidence that can be used for generation of antibodies and allowing conformational studies.", "output": {"entities": {"gene": [{"text": "Mn-SOD", "start": 31, "end": 37}], "disease": [{"text": "tumor", "start": 102, "end": 107}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Mn-SOD", "start": 31, "end": 37}, "tail": {"text": "tumor", "start": 102, "end": 107}}]}}, "schema": []}
{"input": "We studied the association of 11 ADIPOQ single-nucleotide polymorphisms (SNPs) with common and internal carotid intima media thickness (cIMT), presence of coronary artery calcification (CAC), and CAC scores (in those with CAC) in 2, 847 participants in the Multi-Ethnic Study of Atherosclerosis (MESA).", "output": {"entities": {"gene": [{"text": "CAC", "start": 186, "end": 189}], "disease": [{"text": "coronary artery calcification", "start": 155, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.", "output": {"entities": {"gene": [{"text": "fumarylacetoacetase", "start": 94, "end": 113}], "disease": [{"text": "tyrosinemia type 1", "start": 31, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fumarylacetoacetase", "start": 94, "end": 113}, "tail": {"text": "tyrosinemia type 1", "start": 31, "end": 49}}]}}, "schema": []}
{"input": "The absence of complete schwannomin/merlin in almost 60% of primary sporadic meningiomas seems to be an important factor in meningioma tumorigenesis.", "output": {"entities": {"gene": [{"text": "schwannomin", "start": 24, "end": 35}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that IL-6 is increased as a result of adipose deposition and CD4 (+) cell inflammation in lymphedema.", "output": {"entities": {"gene": [{"text": "CD4", "start": 82, "end": 85}], "disease": [{"text": "lymphedema", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Although Kir6. 1 is also present in atrial tissue, it is unknown whether this channel modulates atrial repolarization and hence whether the S422L mutation portends a greater risk of atrial arrhythmias.", "output": {"entities": {"gene": [{"text": "Kir6. 1", "start": 9, "end": 16}], "disease": [{"text": "atrial arrhythmias", "start": 182, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "To examine the frequency distribution of the Ser680Asn polymorphism of the follicle-stimulating hormone receptor (FSHR) gene in ovarian dysfunction (OD) infertile women, \" poor responders \" (PR) and \" good responders \" (GR).", "output": {"entities": {"gene": [{"text": "FSHR", "start": 114, "end": 118}], "disease": [{"text": "infertile", "start": 153, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "CLCNKB", "start": 192, "end": 198}], "disease": [{"text": "body mass index", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In a Cox proportional hazards model including age, sex, race, diabetes, critical limb ischemia, redo (vs primary) bypass, vein type, and baseline C-reactive protein level, the p27 (Kip1)-838AA genotype was significantly associated with higher graft patency (hazard ratio for failure, 0. 4; 95% confidence interval, 0. 17-0. 93).", "output": {"entities": {"gene": [{"text": "p27", "start": 176, "end": 179}], "disease": [{"text": "diabetes", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "To explain the focal lesions that affected different organs and tissues the \" double hit \" theory has been proposed (germinal mutation plus somatic mutation on PKD1 or PKD2).", "output": {"entities": {"gene": [{"text": "PKD1", "start": 160, "end": 164}], "disease": [{"text": "hit", "start": 85, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of a germline mutation of the MEN1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity of the parathyroids may result in the formation of carcinoma.", "output": {"entities": {"gene": [{"text": "MEN1 gene", "start": 55, "end": 64}], "disease": [{"text": "hyperactivity", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Previously, we mapped the 12-O-tetradecanoylphorbol-13-acetate (TPA) skin tumor promotion susceptibility locus, Psl1, to distal chromosome 9 in crosses of sensitive DBA/2 mice with relatively resistant C57BL/6 mice.", "output": {"entities": {"gene": [{"text": "Psl1", "start": 112, "end": 116}], "disease": [{"text": "skin tumor", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis by PCR sequencing of the promoter, the 5' untranslated region (UTR) and exons of both GCK and HNF1A genes was carried out in two families with clinically diagnosed dominant diabetes mellitus.", "output": {"entities": {"gene": [{"text": "UTR", "start": 82, "end": 85}], "disease": [{"text": "diabetes mellitus", "start": 192, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Autotaxin expression was up-regulated by treatment with TNFalpha (insulin resistance-promoting cytokine), and down-regulated by rosiglitazone treatment (insulin-sensitising compound) in 3T3F442A adipocytes.", "output": {"entities": {"gene": [{"text": "Autotaxin", "start": 0, "end": 9}], "disease": [{"text": "insulin resistance", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We confirmed the association of hypomorphic variants of MCP and CFI in a cohort of non-autoimmune preeclampsia patients in which five of 59 were heterozygous for mutations.", "output": {"entities": {"gene": [{"text": "MCP", "start": 56, "end": 59}], "disease": [{"text": "preeclampsia", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Reversal of P-glycoprotein-mediated multi-drug resistance by the E3 ubiquitin ligase Cbl-b in human gastric adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 65, "end": 84}], "disease": [{"text": "gastric adenocarcinoma", "start": 100, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and prostacyclin synthase in the persistent patency of the ductus arteriosus seen in preterm infants.", "output": {"entities": {"gene": [{"text": "prostacyclin synthase", "start": 147, "end": 168}], "disease": [{"text": "patency of the ductus arteriosus", "start": 187, "end": 219}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prostacyclin synthase", "start": 147, "end": 168}, "tail": {"text": "patency of the ductus arteriosus", "start": 187, "end": 219}}]}}, "schema": []}
{"input": "In the family study, evidence for association (p < 0. 0005) was found regarding several genes (NAV2, EFCAB11/TDP1, AGBL1, PTPN9, LINGO1 and LOC730118), with the strongest association at rs4143999 near EFCAB11/TDP1 (p = 0. 00001 for carotid presence and 0. 00003 for plaque area, multiple testing corrected p ≤ 0. 02).", "output": {"entities": {"gene": [{"text": "AGBL1", "start": 115, "end": 120}], "disease": [{"text": "plaque", "start": 266, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "The expression of CCL-checkpoint and DNA damage response genes: MDM4, ATM and ATR was strongly upregulated and associated with progression of dementia (cognitive dementia rating, CDR), appearing as early as questionable or mild dementia (CDRs 0. 5-1).", "output": {"entities": {"gene": [{"text": "ATR", "start": 78, "end": 81}], "disease": [{"text": "dementia", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Using an in situ hybridization technique we have also studied the expression of monocyte chemoattractant protein 1 (MCP-1), RANTES and interleukin (IL)-8 chemokines mRNA in leprosy skin lesions.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 116, "end": 121}], "disease": [{"text": "leprosy", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In conclusion our study can at least partly replicate the previous findings concerning the impact of SNAP-25 gene polymorphisms on weight gain during antipsychotic treatment.", "output": {"entities": {"gene": [{"text": "SNAP-25", "start": 101, "end": 108}], "disease": [{"text": "weight gain", "start": 131, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In slices from post-ischemia animals, CA1 neurons with robust action potentials exhibit greatly enhanced AMPA-elicited rises in intracellular Ca (2 +).", "output": {"entities": {"gene": [{"text": "CA1", "start": 38, "end": 41}], "disease": [{"text": "ischemia", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "In addition, we review the pathophysiology, epidemiology, and extracutaneous manifestations of AAT disease and propose a diagnostic algorithm for ulcerative panniculitis.", "output": {"entities": {"gene": [{"text": "AAT", "start": 95, "end": 98}], "disease": [{"text": "ulcerative", "start": 146, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The antinociception caused by the mixture of compounds seems to involve mechanisms independent of opioid, alpha-adrenergic, serotoninergic, and nitrergic system mediation, since it was not affected by naloxone, prazosin, yohimbine, DL-p-chlorophenylalanine methyl ester, or L-arginine. Interestingly, the i. p. administration of alpha, beta-amyrin reduced the mechanical hyperalgesia produced by i. pl. injection of carrageenan, capsaicin, bradykinin, substance P, prostaglandin E2, 8-Br-cAMP, and TPA in rats.", "output": {"entities": {"gene": [{"text": "substance P", "start": 452, "end": 463}], "disease": [{"text": "mechanical hyperalgesia", "start": 360, "end": 383}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance P", "start": 452, "end": 463}, "tail": {"text": "mechanical hyperalgesia", "start": 360, "end": 383}}]}}, "schema": []}
{"input": "SR-A1 is a human high-molecular-weight SR-related CTD-associated factor that links the machineries of transcription and mRNA splicing.", "output": {"entities": {"gene": [{"text": "SR-A1", "start": 0, "end": 5}], "disease": [{"text": "weight", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate whether LSD1 in metastasized MRMT-1 breast cancer cells in bone marrows participated in the production of endogenous formaldehyde in bone cancer pain rats.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 40, "end": 44}], "disease": [{"text": "cancer pain", "start": 170, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "These diabetic cardiomyopathy-associated alterations were significantly attenuated (P & lt; 0. 05) in diabetic transgenic rats expressing the human kallikrein 1 (hKLK1) gene with STZ-induced diabetes.", "output": {"entities": {"gene": [{"text": "hKLK1", "start": 162, "end": 167}], "disease": [{"text": "diabetic cardiomyopathy", "start": 6, "end": 29}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hKLK1", "start": 162, "end": 167}, "tail": {"text": "diabetic cardiomyopathy", "start": 6, "end": 29}}]}}, "schema": []}
{"input": "Mice infected with murine rotavirus (strain EDIM) accumulated NO2/NO3 in the urine at the onset for diarrhoea.", "output": {"entities": {"gene": [{"text": "NO3", "start": 66, "end": 69}], "disease": [{"text": "diarrhoea", "start": 100, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "As both the immune system and the blood-brain barrier (BBB) are likely to be developmentally immature in the perinatal period, neonatal gene transfer may be useful for the treatment of lysosomal storage disease (LSD) with neurological involvements such as metachromatic leukodystrophy (MLD).", "output": {"entities": {"gene": [{"text": "LSD", "start": 212, "end": 215}], "disease": [{"text": "metachromatic leukodystrophy", "start": 256, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "We established mouse models, expressing the costimulator molecule B7. 1 (CD80) on pancreatic beta cells (RIP-B7. 1 tg mice) or are deficient in coinhibitory PD-L1 or PD-1 molecules (PD-L1 (-/-) and PD-1 (-/-) mice), to study induction of preproinsulin (ppins)-specific CD8 T-cell responses and experimental autoimmune diabetes (EAD) by DNA-based immunization.", "output": {"entities": {"gene": [{"text": "CD8", "start": 73, "end": 76}], "disease": [{"text": "autoimmune diabetes", "start": 307, "end": 326}]}, "relations": {}}, "schema": []}
{"input": "Role of protein kinase C activation in synthesis of complement components C2 and factor B in interferon-gamma-stimulated human fibroblasts, glioblastoma cell line A172 and monocytes.", "output": {"entities": {"gene": [{"text": "factor B", "start": 81, "end": 89}], "disease": [{"text": "glioblastoma", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "A search for expressed sequences within the contig have so far revealed one CpG island, seven anonymous ESTs and three previously characterised genes, DAD-R, KRAG and HT21, all of which were found not to be directly disrupted by the translocation.", "output": {"entities": {"gene": [{"text": "DAD-R", "start": 151, "end": 156}], "disease": [{"text": "translocation", "start": 233, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Sod2 and catalase overexpressing HT-1080 fibrosarcoma cell lines were used to evaluate the H (2) O (2)-dependent regulation of matrix metalloproteinase (MMP)-1 promoter activity, mitogen-activated protein (MAP) kinase signaling, DNA-binding activity, and MMP mRNA levels.", "output": {"entities": {"gene": [{"text": "Sod2", "start": 0, "end": 4}], "disease": [{"text": "fibrosarcoma", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "It is possible that the amplification of ODC genes in Ehrlich ascites-carcinoma cells in response to 2-difluoromethylornithine (DFMO) was associated with hypomethylation, or that less-methylated genes were amplified.", "output": {"entities": {"gene": [{"text": "ODC", "start": 41, "end": 44}], "disease": [{"text": "carcinoma", "start": 70, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, multinucleate giant cells were frequently observed in granulomas in CCR2-/-mice, whereas they rarely appeared in CCR2 +/+ mice.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 83, "end": 87}], "disease": [{"text": "granulomas", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Although considerable controversy remains regarding its pathogenesis, TDI-induced asthma is an inflammatory disease of the airways characterized by airway remodeling caused, at least in part, by an excess of extracellular matrix deposition in the airway wall.", "output": {"entities": {"gene": [{"text": "TDI", "start": 70, "end": 73}], "disease": [{"text": "inflammatory disease", "start": 95, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of COX-2 in papillomas seems to be a consequence of enhanced EGFR--& gt; phosphatidylinositol 3-kinase signaling.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 18, "end": 23}], "disease": [{"text": "papillomas", "start": 27, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 18, "end": 23}, "tail": {"text": "papillomas", "start": 27, "end": 37}}]}}, "schema": []}
{"input": "A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy.", "output": {"entities": {"gene": [{"text": "CIAS1", "start": 8, "end": 13}], "disease": [{"text": "neonatal-onset multisystem inflammatory disease", "start": 96, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CIAS1", "start": 8, "end": 13}, "tail": {"text": "neonatal-onset multisystem inflammatory disease", "start": 96, "end": 143}}]}}, "schema": []}
{"input": "Cathepsin K knockout mice and their wild-type littermates were subjected to abdominal aortic constriction, resulting in cardiac remodeling (heart weight, cardiomyocyte size, left ventricular wall thickness, and end diastolic and end systolic dimensions) and decreased fractional shortening, the effects of which were significantly attenuated or ablated by cathepsin K knockout.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 356, "end": 367}], "disease": [{"text": "constriction", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, subsequent sequence determination, and restriction enzyme digestion of PCR products, initial symptoms were the onset of slowly progressive spastic paraplegia from the middle of the second decade, and all patients had diminished GALC activity in their leukocytes.", "output": {"entities": {"gene": [{"text": "GALC", "start": 34, "end": 38}], "disease": [{"text": "progressive spastic paraplegia", "start": 358, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p. (Ala507Ser) and c. 401-1G > A, and we describe eye defects associated with this gene for the first time.", "output": {"entities": {"gene": [{"text": "PNPT1", "start": 94, "end": 99}], "disease": [{"text": "seizures", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "ALK/CNG, but not translocation of ALK, is present in HCC and may be an unfavorable prognostic predictor.", "output": {"entities": {"gene": [{"text": "HCC", "start": 53, "end": 56}], "disease": [{"text": "translocation", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.", "output": {"entities": {"gene": [{"text": "EDA", "start": 32, "end": 35}], "disease": [{"text": "Hypohidrotic Ectodermal Dysplasia", "start": 75, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA", "start": 32, "end": 35}, "tail": {"text": "Hypohidrotic Ectodermal Dysplasia", "start": 75, "end": 108}}]}}, "schema": []}
{"input": "PON1 also plays a key role in prevention of atherosclerosis.", "output": {"entities": {"gene": [{"text": "PON1", "start": 0, "end": 4}], "disease": [{"text": "atherosclerosis", "start": 44, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PON1", "start": 0, "end": 4}, "tail": {"text": "atherosclerosis", "start": 44, "end": 59}}]}}, "schema": []}
{"input": "Interestingly, immunofluorescence analysis evidenced that endometrioid adenocarcinoma tissues displayed, similarly to AN3CA cells, also a GRP78 plasma membrane localization.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 138, "end": 143}], "disease": [{"text": "endometrioid adenocarcinoma", "start": 58, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Topical application of HAFi caused marked epidermal hyperplasia in wt but not in CD44-/-mice, and significant skin thickening in patients with age-or corticosteroid-related skin atrophy.", "output": {"entities": {"gene": [{"text": "CD44", "start": 81, "end": 85}], "disease": [{"text": "skin thickening", "start": 110, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Glut1 staining was present in the epidermis of 8 of 15 scars (53%) but was not detected in any BCC, even in areas of focal keratinization and squamous metaplasia.", "output": {"entities": {"gene": [{"text": "Glut1", "start": 0, "end": 5}], "disease": [{"text": "scars", "start": 55, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Finally, we have found that HA content, HA molecular weight, HAS2 mRNA level, and CD44 expression were significantly decreased in DSCs from unexplained miscarriage compared with the normal pregnancy.", "output": {"entities": {"gene": [{"text": "CD44", "start": 82, "end": 86}], "disease": [{"text": "miscarriage", "start": 152, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Data mining analysis generated a predictive model for anemia (hemoglobin (Hb) concentration < 10 g/dl); the CC genotype of ITPA, baseline Hb < 14. 0 g/dl, and low creatinine clearance (CLcr) were predictors of anemia.", "output": {"entities": {"gene": [{"text": "CLcr", "start": 185, "end": 189}], "disease": [{"text": "anemia", "start": 54, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Common allelic variations have now been associated with bone density for the estrogen receptor, TGF beta receptor, and TGF beta 1, for the insulin-like growth factor-I pathway, for interleukin-4 and-6 and the interleukin-1 receptor antagonist, for calcitonin and the PTH receptors and for apolipoprotein E. Of considerable interest, chromosomal loci, notably 11q 12-13, have now been linked to bone phenotypes in human and mouse studies.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 289, "end": 305}], "disease": [{"text": "bone density", "start": 56, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that CA9 may be involved in the development of HCC by contributing to the survival of hepatocytes infected with HBV in liver tissue with fibrosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 66, "end": 69}], "disease": [{"text": "fibrosis", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Overall, abnormalities of the CDKL5 gene accounted for 16. 3% (8 of 49) of patients.", "output": {"entities": {"gene": [{"text": "CDKL5 gene", "start": 30, "end": 40}], "disease": [{"text": "abnormalities", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Five additional cases were diagnosed with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and 10 patients with AID were referred from other adult departments.", "output": {"entities": {"gene": [{"text": "AID", "start": 151, "end": 154}], "disease": [{"text": "aphthous stomatitis", "start": 58, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Cox regression showed that Cripto-1 might be an independent prognostic factor for recurrence/metastasis-free survival (P = 0. 036).", "output": {"entities": {"gene": [{"text": "Cripto-1", "start": 27, "end": 35}], "disease": [{"text": "regression", "start": 4, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, selective ablation of human GSC-derived VE-cadherin-expressing cells attenuated vascular formation in mouse intracranial tumors, thereby significantly prolonging mouse survival.", "output": {"entities": {"gene": [{"text": "GSC", "start": 42, "end": 45}], "disease": [{"text": "intracranial tumors", "start": 122, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that estrogen-mediated suppression of PTPRO is probably one of the early events in estrogen-induced tumorigenesis and that expression of PTPRO could facilitate endocrine therapy of breast cancer.", "output": {"entities": {"gene": [{"text": "PTPRO", "start": 57, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In gastric adenocarcinoma tissues, nuclear PDCD4 expression was decreased, while cytoplasmic PDCD4 expression was unchanged or somewhat increased.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 43, "end": 48}], "disease": [{"text": "gastric adenocarcinoma", "start": 3, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the study was to determine if the tumor suppressor gene phosphate and tensin homolog (PTEN) (mutated in multiple advanced cancers 1) in combination with Gleason scoring and serum prostate specific antigen (PSA) could be employed to better predict the progression of prostate carcinoma.", "output": {"entities": {"gene": [{"text": "tensin", "start": 85, "end": 91}], "disease": [{"text": "cancers", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "After adjustment for the covariates of age, gender, smoking, alcohol use, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), triglyceride (TG), and total cholesterol (TC), the diabetic protective effect of the rs2283171-G allele remained.", "output": {"entities": {"gene": [{"text": "DBP", "start": 131, "end": 134}], "disease": [{"text": "systolic blood pressure", "start": 74, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "PURPOSE: The aim of the present study was to investigate associations between the renin gene (REN) and the risk of essential hypertension and blood pressure (BP) levels in Koreans.", "output": {"entities": {"gene": [{"text": "REN", "start": 94, "end": 97}], "disease": [{"text": "blood pressure", "start": 142, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The promoter activity of the VEGF gene, which contains five SP-1 binding sites and one AP-1 binding site but not hypoxia regulatory elements, was enhanced by bFGF or TNF-alpha but not by hypoxia.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 87, "end": 91}], "disease": [{"text": "hypoxia", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "In the kindreds showing linkage to the MCKD2 locus on chromosome 16p12, mutational analysis of the UMOD gene was performed by exon polymerase chain reaction (PCR) and direct sequencing.", "output": {"entities": {"gene": [{"text": "UMOD", "start": 99, "end": 103}], "disease": [{"text": "MCKD2", "start": 39, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UMOD", "start": 99, "end": 103}, "tail": {"text": "MCKD2", "start": 39, "end": 44}}]}}, "schema": []}
{"input": "C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.", "output": {"entities": {"gene": [{"text": "C9orf72", "start": 0, "end": 7}], "disease": [{"text": "motor deficits", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The SGPP1, weakly expressed in healthy endometrium, is up-regulated in endometriosis-affected women (11. 9-and 64. 7-fold, respectively), but its expression remains low.", "output": {"entities": {"gene": [{"text": "SGPP1", "start": 4, "end": 9}], "disease": [{"text": "endometriosis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "This finding suggested us that the cytokines IL-1α and IL-6 play a role on aggressive behaviour of ameloblastomas and keratocystic odontogenic tumors by making easy bone resorption.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 55, "end": 59}], "disease": [{"text": "aggressive behaviour", "start": 75, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The ACTH receptor (ACTH-R) has recently been cloned, allowing systematic evaluation of its expression and function in adrenal tumorigenesis.", "output": {"entities": {"gene": [{"text": "ACTH receptor", "start": 4, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Mounting evidence indicates increased susceptibility to cell death and increased oxidative damage as common features in neurons from sporadic Alzheimer' s disease (AD) patients but also from familial AD (FAD) cases.", "output": {"entities": {"gene": [{"text": "FAD", "start": 204, "end": 207}], "disease": [{"text": "sporadic", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In men, 24-h systolic blood pressure (SBP) and diastolic blood pressure (DBP) values, daytime SBP and DBP values, and nighttime SBP and DBP values were significantly higher in IVS5 + 169T allele carriers than C allele carriers.", "output": {"entities": {"gene": [{"text": "DBP", "start": 73, "end": 76}], "disease": [{"text": "systolic blood pressure", "start": 13, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "This study shows no proatherogenic effects of adenovirus-mediated gene transfers of VEGF-A,-B,-C, or-D in the LDLR/apoB48-deficient hypercholesterolemic mice, in which lipoprotein profile and atherosclerosis closely resemble those in human disease.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 110, "end": 114}], "disease": [{"text": "adenovirus", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, Folbp1 and RFC1 genetically modified mice exhibit distinct changes in colonocyte phenotype and therefore have utility as models to examine the role of folate homeostasis in colon cancer development.", "output": {"entities": {"gene": [{"text": "RFC1", "start": 26, "end": 30}], "disease": [{"text": "colon cancer", "start": 188, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RFC1", "start": 26, "end": 30}, "tail": {"text": "colon cancer", "start": 188, "end": 200}}]}}, "schema": []}
{"input": "Three other IA-2 epitope peptides are 71-100% similar over 7-12 aa to herpes, rhino-, hanta-and flaviviruses.", "output": {"entities": {"gene": [{"text": "IA-2", "start": 12, "end": 16}], "disease": [{"text": "herpes", "start": 70, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "This study examined whether mediators from biopsies of human irritable bowel syndrome (IBS) colons alter intrinsic excitability of colonic nociceptive dorsal root ganglion (DRG) neurons by a protease activated receptor 2 (PAR2)-mediated mechanism.", "output": {"entities": {"gene": [{"text": "DRG", "start": 173, "end": 176}], "disease": [{"text": "irritable bowel syndrome", "start": 61, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 122, "end": 127}], "disease": [{"text": "SOD", "start": 145, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 122, "end": 127}, "tail": {"text": "SOD", "start": 145, "end": 148}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization analysis revealed amplification of MYB in 5 (29%) of 17 BRCA1 breast tumors, whereas none of 8 BRCA2 tumors and 13 breast cancer cell lines, and only 2 of 100 sporadic breast tumors exhibited altered MYB copy numbers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 130, "end": 135}], "disease": [{"text": "sporadic", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "CYP2E1 c1/c1, DD and NAT2 slow acetylation, especially combined with smoking, contributes to the development of lung cancer.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 21, "end": 25}], "disease": [{"text": "smoking", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "FGD5", "start": 78, "end": 82}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGD5", "start": 78, "end": 82}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "Our study shows that-26 5' UTR polymorphism in BRCA2 can modulate the fine-tuned regulation of the multifunctional gene BRCA2 and renders risk or protection according to the genotype status in the sporadic form of breast cancer, which is further influenced by the germline genetic backgrounds of codon 72 polymorphism of p53.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 47, "end": 52}], "disease": [{"text": "sporadic", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "To determine whether sporadic (non-NF) cases of meningioangiomatosis arise from somatic alterations of the same gene, we screened the NF2 gene for mutations in 12 sporadic cases of meningioangiomatosis and in constitutional DNA from 6 of these 12 patients.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 134, "end": 142}], "disease": [{"text": "sporadic", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.", "output": {"entities": {"gene": [{"text": "ZNF341", "start": 56, "end": 62}], "disease": [{"text": "hyper-IgE syndrome", "start": 20, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF341", "start": 56, "end": 62}, "tail": {"text": "hyper-IgE syndrome", "start": 20, "end": 38}}]}}, "schema": []}
{"input": "BR males are also moderately susceptible, and the susceptibility of both sexes of BR mice to liver tumors induced with N, N-diethylnitrosamine relative to the resistant C57BL/6J (B6) strain is caused by two loci designated Hcf1 and Hcf2 (hepatocarcinogenesis in females) located on chromosomes 17 and 1, respectively.", "output": {"entities": {"gene": [{"text": "Hcf1", "start": 223, "end": 227}], "disease": [{"text": "liver tumors", "start": 93, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hcf1", "start": 223, "end": 227}, "tail": {"text": "liver tumors", "start": 93, "end": 105}}]}}, "schema": []}
{"input": "These were rather focused and consistent with amplifications frequent in patient samples, involving the genes platelet-derived growth factor receptor A (PDGFRA), cysteine-rich hydrophobic domain 2 (CHIC2), FIP-like 1 (FIP1L1), ligand of numb-protein X1 (LNX1), RAS-like family 11 member B (RASL11B), and sec1 family domain containing 2 (SCFD2), probably a sign of continued tumor progression.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 218, "end": 224}], "disease": [{"text": "tumor progression", "start": 374, "end": 391}]}, "relations": {}}, "schema": []}
{"input": "Fifty-eight patients diagnosed with PD-related LRRK2 G2019S mutation were included in the study and compared with 54 sporadic PD patients with negative tests for LRRK2 G2019S, PINK1, SNCA, PRKN, and DJ1 mutations.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 176, "end": 181}], "disease": [{"text": "sporadic", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children.", "output": {"entities": {"gene": [{"text": "ERG", "start": 11, "end": 14}], "disease": [{"text": "rod-cone dystrophy", "start": 65, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Putative pathogenic CPVT1-causing mutations in RyR2 were detected in 6% of unrelated, genotype-negative LQTS referrals.", "output": {"entities": {"gene": [{"text": "RyR2", "start": 47, "end": 51}], "disease": [{"text": "CPVT1", "start": 20, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RyR2", "start": 47, "end": 51}, "tail": {"text": "CPVT1", "start": 20, "end": 25}}]}}, "schema": []}
{"input": "The median (interquartile range) HD5 mRNA level was 6. 0 (5. 6-6. 7) log10 transcripts/microg of total RNA among 18 participants who experienced diarrhea within 2 months after biopsy-sample collection, compared with 6. 8 (6. 2-7. 3) log10 transcripts/microg of total RNA among 94 participants who did not (P =. 006).", "output": {"entities": {"gene": [{"text": "HD5", "start": 33, "end": 36}], "disease": [{"text": "diarrhea", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The TP53 gene status was first investigated in a series of 35 BRCA1 BLCs using immunohistochemistry, direct sequencing of the coding sequence, and functional analysis of separated alleles in yeast, and compared with the TP53 status in a series of 38 sporadic (nonhereditary) BLCs.", "output": {"entities": {"gene": [{"text": "TP53", "start": 4, "end": 8}], "disease": [{"text": "sporadic", "start": 250, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "The creation of a fusion between EWSR1 and an ETS family gene consecutive to a chromosomal translocation is characteristic of the Ewing family of tumors (EFT).", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 33, "end": 38}], "disease": [{"text": "chromosomal translocation", "start": 79, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In vitro experiments indicated that salusin-β directly enhances the expression levels of proinflammatory molecules, including VCAM-1, MCP-1, IL-1β, and NADPH oxidase 2, as well as THP-1 monocyte adhesion to cultured human umbilical vein ECs (HUVECs).", "output": {"entities": {"gene": [{"text": "salusin-β", "start": 36, "end": 45}], "disease": [{"text": "adhesion", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a possible role of TAAR6 in antidepressant response and suicide behavior in patients with depressive disorder.", "output": {"entities": {"gene": [{"text": "TAAR6", "start": 41, "end": 46}], "disease": [{"text": "depressive disorder", "start": 112, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TAAR6", "start": 41, "end": 46}, "tail": {"text": "depressive disorder", "start": 112, "end": 131}}]}}, "schema": []}
{"input": "The administration of IFN-γ instead of Th1 cells caused AHR elevation but not neutrophilia, and remarkably induced neurokinin-2 receptor (NK2R) expression along with neurokinin A (NKA) production in the lung.", "output": {"entities": {"gene": [{"text": "IFN", "start": 22, "end": 25}], "disease": [{"text": "neutrophilia", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Induction of POMC/α-melanocyte-stimulating hormone (α-MSH) activates the melanocortin 1 receptor (MC1R), resulting in skin pigmentation.", "output": {"entities": {"gene": [{"text": "POMC", "start": 13, "end": 17}], "disease": [{"text": "skin pigmentation", "start": 118, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The present study is the first to indicate that the polymorphism of PTH/PTHrP receptor gene is closely related to the extent of bone mass reduction in pHPT and that this polymorphism would be one of the genetic factors responsible for the severity of the pathological state of pHPT.", "output": {"entities": {"gene": [{"text": "PTH/PTHrP receptor", "start": 68, "end": 86}], "disease": [{"text": "bone mass", "start": 128, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "MOF was induced by peritoneal injection of zymosan (500 mg/kg i. p. as a suspension in saline) in 5-LOWT and in 5-LOKO mice.", "output": {"entities": {"gene": [{"text": "5-LOKO", "start": 112, "end": 118}], "disease": [{"text": "MOF", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-LOKO", "start": 112, "end": 118}, "tail": {"text": "MOF", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "The milder forms, especially adult and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner depending on the effect that the & lt; i & gt; ALPL & lt;/i & gt; pathogenic variant has on TNSALP activity.", "output": {"entities": {"gene": [{"text": "TNSALP", "start": 227, "end": 233}], "disease": [{"text": "odontohypophosphatasia", "start": 39, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNSALP", "start": 227, "end": 233}, "tail": {"text": "odontohypophosphatasia", "start": 39, "end": 61}}]}}, "schema": []}
{"input": "We examined the sequential expression of hyperplasia, micronucleated cells, ornithine decarboxylase (ODC) activity, polyamine levels, transglutaminase I activity, epidermal growth factor receptor (EGF-R) levels, keratins, gamma-glutamyltranspeptidase (GGT), transforming growth factor-beta 1 (TGF-beta 1), leukoplakia, and carcinomas induced during carcinogenesis.", "output": {"entities": {"gene": [{"text": "ODC", "start": 101, "end": 104}], "disease": [{"text": "carcinomas", "start": 323, "end": 333}]}, "relations": {}}, "schema": []}
{"input": "Rescuing nerve injury-induced reduction of Kv1. 2 in the injured L5 DRG attenuated the development and maintenance of SNL-induced pain hypersensitivity without affecting acute pain and locomotor function.", "output": {"entities": {"gene": [{"text": "DRG", "start": 68, "end": 71}], "disease": [{"text": "acute pain", "start": 170, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Together, we show that the GluR2 gene is embedded into an open chromatin configuration in glioma cells and expression of GluR2 is controlled by REST and Sp1.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 27, "end": 32}], "disease": [{"text": "glioma", "start": 90, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "CDH18", "start": 163, "end": 168}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH18", "start": 163, "end": 168}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "Until recently, modulating CFTR dysfunction was only a research aspiration, however, greater focus placed upon addressing the primary defect of CF has developed several clinical therapeutic strategies in this area.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 27, "end": 31}], "disease": [{"text": "aspiration", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the treatment of CL1-5 cells with EGCG caused downregulation of c-Jun N-terminal kinase (JNK), resulting in repression of the translocation of transcriptional factors, Sp1, and NF-κB, from the cytosol into the nucleus.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 178, "end": 181}], "disease": [{"text": "translocation", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The results here and those published previously indicate that the Weissenbacher-Zweym & #252; ller syndrome (heterozygous OSMED), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene.", "output": {"entities": {"gene": [{"text": "COL11A2", "start": 215, "end": 222}], "disease": [{"text": "heterozygous OSMED", "start": 109, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL11A2", "start": 215, "end": 222}, "tail": {"text": "heterozygous OSMED", "start": 109, "end": 127}}]}}, "schema": []}
{"input": "Recombinant OPN was found to induce translocation of p65 into the nucleus of HCC cells and activation of MMP-2 and MEK/ERK/1/2, which were suppressed by the nuclear factor kappaB (NF-kappaB) inhibitor pyrrolidine dithiocarbamate.", "output": {"entities": {"gene": [{"text": "HCC", "start": 77, "end": 80}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Forced expression of TRAF2DeltaN in HHMSX highly metastatic melanoma cells that lack Fas expression and thus utilize the TNFalpha-TNFR1 as the major apoptotic pathway sensitized cells to UV-induced apoptosis.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 130, "end": 135}], "disease": [{"text": "metastatic melanoma", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that the DRD2 Taq IA polymorphism modifies the effects of lead and hemoglobin on intelligence quotient (IQ) among children.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 34, "end": 38}], "disease": [{"text": "hemoglobin", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Thus, combined expression of MYC, EGFR and FGFR2 is predictive of poor survival in CF-treated metastatic gastric cancer patients.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 34, "end": 38}], "disease": [{"text": "gastric cancer", "start": 105, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EGFR", "start": 34, "end": 38}, "tail": {"text": "gastric cancer", "start": 105, "end": 119}}]}}, "schema": []}
{"input": "The levels of platelet GPVI were similar in symptomatic and asymptomatic VWD patients (109. 6 +/-58. 4 vs 114. 1 +/-52. 5, respectively; p: 0. 77).", "output": {"entities": {"gene": [{"text": "GPVI", "start": 23, "end": 27}], "disease": [{"text": "asymptomatic", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "AIM: The aim of our study was to evaluate the association between the p53 codon 72 polymorphism and the oral cancer risk in Chinese Han patients.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "oral cancer", "start": 104, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We therefore analyzed the expression of the PcG genes (EZH2, BMI-1, EED, SUZ12) in relation to that of the nephric-progenitor genes (WT1, PAX2, SALL1, SIX2, CITED1) using real-time polymerase chain reaction and methylation assays during renal development, regeneration, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "CITED1", "start": 157, "end": 163}], "disease": [{"text": "tumorigenesis", "start": 274, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Together, we identified a novel p53-RNPC1 autoregulatory loop, and our findings suggest that RNPC1 plays a role in tumorigenesis by repressing p53 translation.", "output": {"entities": {"gene": [{"text": "RNPC1", "start": 36, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "In this respect, a patient cohort (from HTLV-1 endemic region) consisting of seronegative controls (controls), asymptomatic carriers (ACs), and patients with adult T-cell leukemia (ATL) or HTLV-associated myelopathy/tropical spastic paraparesis (HAM/TSP) was analyzed for CD8 (+) T cells polyfunctionality in response to the viral antigen Tax.", "output": {"entities": {"gene": [{"text": "CD8", "start": 272, "end": 275}], "disease": [{"text": "tropical spastic paraparesis", "start": 216, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.", "output": {"entities": {"gene": [{"text": "MYO7A", "start": 20, "end": 25}], "disease": [{"text": "Usher syndrome type 1", "start": 39, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYO7A", "start": 20, "end": 25}, "tail": {"text": "Usher syndrome type 1", "start": 39, "end": 60}}]}}, "schema": []}
{"input": "These data confirm the involvement of the VMD2 gene in Best macular dystrophy onset, even in sporadic cases of the disease, pointing out the relevance of molecular analysis in the diagnosis of this degenerative retinal disease.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 42, "end": 46}], "disease": [{"text": "Best macular dystrophy", "start": 55, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 42, "end": 46}, "tail": {"text": "Best macular dystrophy", "start": 55, "end": 77}}]}}, "schema": []}
{"input": "We reviewed and summarized by a meta-analytic approach the evidence from the literature on the interaction of smoking with the five most studied gene polymorphisms (GSTM1, GSTT1, mEH3, mEH4, NAT2).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 191, "end": 195}], "disease": [{"text": "smoking", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Cyclin E also tended to predict the benefit from radiotherapy with a local recurrence rate of 0. 31 (RT vs. CMF; 95% CI, 0. 12-0. 83) for patients with low expression and 0. 68 (RT vs. CMF; 95% CI, 0. 2-2. 32) for patients with high expression of cyclin E. When the p53 status was taken in consideration the results showed that patients with both normal p53 and normal Rb expression had considerably lower locoregional recurrence rate when treated with radiotherapy instead of CMF (RR = 0. 17; 95% CI, 0. 052-0. 58) as compared to patients with either altered Rb or p53 or both (RR = 0. 70; 95% CI, 0. 28-1. 73).", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 247, "end": 255}], "disease": [{"text": "locoregional recurrence", "start": 406, "end": 429}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the SIRT1 gene may play an important role in the pathophysiology of schizophrenia in the Japanese population.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 19, "end": 24}], "disease": [{"text": "schizophrenia", "start": 83, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT1", "start": 19, "end": 24}, "tail": {"text": "schizophrenia", "start": 83, "end": 96}}]}}, "schema": []}
{"input": "We studied the effects of streptozotocin induced diabetes on infarct size and HIF-1 alpha gene expression.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 84, "end": 94}], "disease": [{"text": "infarct", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the current study provides a new sight for the regulatory pattern of miRNA-214 and TFAM in cervical cancer in vitro, indicating that miRNA-214 and MTFA may become important candidates for developing promising therapeutic strategies for the treatment of cervical cancer.", "output": {"entities": {"gene": [{"text": "TFAM", "start": 98, "end": 102}], "disease": [{"text": "cervical cancer", "start": 106, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Lysophosphatidic acid (LPA) is one of the major growth factors in ascites from ovarian cancer patients and appears to play an important role in proliferation, survival, and invasion of ovarian cancer cells.", "output": {"entities": {"gene": [{"text": "LPA", "start": 23, "end": 26}], "disease": [{"text": "ascites", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "By performing systematic biochemical and bioinformatical analyses, we identified two miR-221 targets, HECTD2 and RAB1A, which could mediate the development of CRPC phenotype in multiple prostate cancer cell lines.", "output": {"entities": {"gene": [{"text": "HECTD2", "start": 102, "end": 108}], "disease": [{"text": "prostate cancer", "start": 186, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "To the best of our knowledge, this is the first report which shows the involvement of PKC epsilon, DGK eta, Tnfaip, and Rho kinase in the liver of type 2 diabetic rats and its association with diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "DGK eta", "start": 99, "end": 106}], "disease": [{"text": "diabetic nephropathy", "start": 193, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DGK eta", "start": 99, "end": 106}, "tail": {"text": "diabetic nephropathy", "start": 193, "end": 213}}]}}, "schema": []}
{"input": "Altogether, our data in this Z-12 cell model suggest that the beneficial effects of treatment with progestin observed in endometriosis patients might arise from decreased pre-receptor metabolism of the protective progesterone by the SRD5A1 and AKR1C enzymes.", "output": {"entities": {"gene": [{"text": "SRD5A1", "start": 233, "end": 239}], "disease": [{"text": "endometriosis", "start": 121, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRD5A1", "start": 233, "end": 239}, "tail": {"text": "endometriosis", "start": 121, "end": 134}}]}}, "schema": []}
{"input": "Univariate analysis revealed higher frequencies of DR2 (odds ratio [OR], 4. 8; 95% confidence interval [CI], 1. 2-18. 8) and DR5 (OR, 7. 5; 95% CI, 1. 5-37. 5) but lower frequencies of DR4 (OR, 2. 3; 95% CI, 1. 1-4. 9) and DR6 (OR, 2. 8; 95% CI, 1. 4-5. 8), in rubella vaccinees compared with placebo recipients with arthropathy.", "output": {"entities": {"gene": [{"text": "DR5", "start": 125, "end": 128}], "disease": [{"text": "arthropathy", "start": 317, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "Expression of p53 in arsenic-related and sporadic basal cell carcinoma.", "output": {"entities": {"gene": [{"text": "p53", "start": 14, "end": 17}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We enriched and re-sequenced continuous genomic regions comprising FTO, MC4R, TMEM18, SDCCAG8, TKNS, MSRA and TBC1D1 in a screening sample of 196 extremely obese children and adolescents with age and sex specific body mass index (BMI) ≥ 99th percentile and 176 lean adults (BMI ≤ 15th percentile).", "output": {"entities": {"gene": [{"text": "TMEM18", "start": 78, "end": 84}], "disease": [{"text": "body mass index", "start": 213, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Double-hit lymphoma (DHL) has been defined by others as a B-cell lymphoma with MYC/8q24 rearrangement in combination with a translocation involving another gene, such as BCL2, BCL3, or BCL6.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 176, "end": 180}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Porphobilinogen deaminase mutants that cause acute intermittent porphyria have been investigated as recombinant proteins expressed in Escherichia coli, yielding important insight into the mechanism of dipyrromethane cofactor assembly and tetrapyrrole chain polymerization.", "output": {"entities": {"gene": [{"text": "Porphobilinogen deaminase", "start": 0, "end": 25}], "disease": [{"text": "acute intermittent porphyria", "start": 45, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Porphobilinogen deaminase", "start": 0, "end": 25}, "tail": {"text": "acute intermittent porphyria", "start": 45, "end": 73}}]}}, "schema": []}
{"input": "Crouzon craniostenosis [MIM 123500], is identified on the basis of the additional phenotypical manifestations of acanthosis nigricans, vertebral changes and cementomas of the jaws.", "output": {"entities": {"gene": [{"text": "MIM", "start": 24, "end": 27}], "disease": [{"text": "craniostenosis", "start": 8, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "We tested 538 patients for p53 codon 72 variants, including 167 unrelated patients with pathogenic germline mutations in MSH2 or MLH1 and colorectal carcinoma as first tumour, 126 patients with sporadic microsatellite stable colorectal cancers, and 245 healthy controls.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 121, "end": 125}], "disease": [{"text": "sporadic", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "We assessed univariate associations of each SNV with quantitative traits and a principal components analysis and associations between SNVs in KLB and FGFR4 and symptom phenotype in 405 IBS, 228 controls and colonic transit in 70 IBS-D, 71 IBS-constipation.", "output": {"entities": {"gene": [{"text": "FGFR4", "start": 150, "end": 155}], "disease": [{"text": "constipation", "start": 243, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "In particular, the TRX to TBP-2 ratio was significantly higher during late secretory and menstrual phase in patients with endometriosis compared with the control group.", "output": {"entities": {"gene": [{"text": "TBP", "start": 26, "end": 29}], "disease": [{"text": "endometriosis", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "MEK1/2 inhibitor selumetinib (AZD6244) inhibits growth of ovarian clear cell carcinoma in a PEA-15-dependent manner in a mouse xenograft model.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 0, "end": 4}], "disease": [{"text": "clear cell carcinoma", "start": 66, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether smoking would interact with the TNF-alpha G-308A polymorphism in determining plasma levels of TNF-alpha and CRP.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 56, "end": 65}], "disease": [{"text": "smoking", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The present study evaluated the prognostic significance of apoptosis-related proteins, p53, Bcl-2, Bax, and galectin-3 in patients with locally advanced esophageal cancer treated with definitive chemoradiotherapy.", "output": {"entities": {"gene": [{"text": "galectin-3", "start": 108, "end": 118}], "disease": [{"text": "esophageal cancer", "start": 153, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "galectin-3", "start": 108, "end": 118}, "tail": {"text": "esophageal cancer", "start": 153, "end": 170}}]}}, "schema": []}
{"input": "To explore the association of polymorphisms within the NTRK2 gene (encoding TrkB) and sporadic AD (sAD), a case-control study was conducted in a Chinese Han cohort including 216 sAD patients and 244 control participants.", "output": {"entities": {"gene": [{"text": "NTRK2 gene", "start": 55, "end": 65}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Simple regression analysis revealed that age, female sex, homeostasis model assessment of insulin resistance (HOMA-IR) index, systolic blood pressure, low HDL cholesterol, and high-sensitivity C-reactive protein (hs-CRP) were positively correlated with plasma resistin (P < 0. 001, 0. 003, < 0. 001, 0. 004, < 0. 001, and 0. 003, respectively).", "output": {"entities": {"gene": [{"text": "CRP", "start": 216, "end": 219}], "disease": [{"text": "insulin resistance", "start": 90, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients.", "output": {"entities": {"gene": [{"text": "FAH", "start": 30, "end": 33}], "disease": [{"text": "HT1", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAH", "start": 30, "end": 33}, "tail": {"text": "HT1", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "This investigation was designed to explore the role of IL-1RN genotype in unexplained infant deaths (including sudden infant death syndrome (SIDS)), non-infectious infant deaths, and infectious infant deaths, and to investigate whether IL-1RN genotype is related to the finding of organisms in normally sterile sites in infant deaths.", "output": {"entities": {"gene": [{"text": "IL-1RN", "start": 55, "end": 61}], "disease": [{"text": "sterile", "start": 303, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "In AIA, arthritis was significantly decreased in PAR-2-deficient mice and was associated with decreased levels of anti-mBSA IgG antibodies and lymph node cell proliferation.", "output": {"entities": {"gene": [{"text": "PAR", "start": 49, "end": 52}], "disease": [{"text": "arthritis", "start": 8, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 124, "end": 129}], "disease": [{"text": "major depression", "start": 75, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR1", "start": 124, "end": 129}, "tail": {"text": "major depression", "start": 75, "end": 91}}]}}, "schema": []}
{"input": "Thus, these mice may provide an attractive model to discover the pathogenic mechanisms linking aberrant pre-messenger RNA splicing with liver damage, fibrosis, and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 164, "end": 167}], "disease": [{"text": "fibrosis", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "This correlated with inhibition of hyperglycemia-induced PAI-1 expression by GF109203X, NAC, and GSH.", "output": {"entities": {"gene": [{"text": "NAC", "start": 88, "end": 91}], "disease": [{"text": "hyperglycemia", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The decrease in peripheral blood lymphocyte subgroup CD4 + and CD8 + cells after renal transplantation in patients with CMV viremia showed prognostic value for pneumonia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 53, "end": 56}], "disease": [{"text": "viremia", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The COX-2 inhibitor celecoxib decreased neuronal excitability and prevented epileptogenesis in pilocarpine-induced status epilepticus rats.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 4, "end": 9}], "disease": [{"text": "status epilepticus", "start": 115, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 4, "end": 9}, "tail": {"text": "status epilepticus", "start": 115, "end": 133}}]}}, "schema": []}
{"input": "We demonstrate that PDLIM2 is decreased in both ovarian high-grade serous carcinoma and in various human ovarian cancer cell lines compared with normal ovary tissues and human ovarian surface epithelial cells (HOSE).", "output": {"entities": {"gene": [{"text": "PDLIM2", "start": 20, "end": 26}], "disease": [{"text": "serous carcinoma", "start": 67, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The present study investigated the potential therapeutic utility of combining a 5-HT7 antagonist with a selective serotonin (5-HT) reuptake inhibitor (SSRI), the standard of care in depression, on circadian rhythm regulation.", "output": {"entities": {"gene": [{"text": "5-HT7", "start": 80, "end": 85}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT7", "start": 80, "end": 85}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "Here we report a novel missense mutation of GPR56, E496K, identified in a consanguineous pedigree with bilateral frontoparietal polymicrogyria.", "output": {"entities": {"gene": [{"text": "GPR56", "start": 44, "end": 49}], "disease": [{"text": "bilateral frontoparietal polymicrogyria", "start": 103, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR56", "start": 44, "end": 49}, "tail": {"text": "bilateral frontoparietal polymicrogyria", "start": 103, "end": 142}}]}}, "schema": []}
{"input": "The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type (WT), is complex due to the existence of different subgroups with distinct molecular hallmarks, including defects in the succinate dehydrogenase (SDH) complex and mutations of neurofibromatosis type 1 (NF1), BRAF, or KRAS genes (RAS-pathway or RAS-P). In this extremely heterogeneous landscape, the clinical profile and molecular abnormalities of the small subgroup of WT GIST suitably referred to as quadruple wild-type GIST (quadrupleWT or KITWT/PDGFRAWT/SDHWT/RAS-PWT) remains undefined.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 63, "end": 69}], "disease": [{"text": "abnormalities", "start": 410, "end": 423}]}, "relations": {}}, "schema": []}
{"input": "Treatment of AML cells with the clinically available RANKL Ab Denosumab resulted in enhanced NK cell anti-leukemia reactivity.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 53, "end": 58}], "disease": [{"text": "leukemia", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the true nature of fatal LPD observed in Herpesvirus papio (HVP)-induced rabbit hemophagocytosis, reactive or neoplastic, we analyzed sequential development of HVP-induced rabbit LPD and their cell lines.", "output": {"entities": {"gene": [{"text": "LPD", "start": 38, "end": 41}], "disease": [{"text": "hemophagocytosis", "start": 93, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We have investigated frameshift mutations in exonic repeats in the ATR, BRCA1, BRCA2, PTCH, CTCF, Cx26, NuMa and TGFbetaRII genes, using human tumor samples from stomach, esophagus, breast and skin and melanoma, as well as colon cancer and endometrial cancer cell lines (125 samples in total).", "output": {"entities": {"gene": [{"text": "Cx26", "start": 98, "end": 102}], "disease": [{"text": "endometrial cancer", "start": 240, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Comparison of gene expression profiles revealed a significantly enriched expression of oncogenes, chromosomal instability markers and E2F1 targets in the post-PHx compared to spontaneous tumors.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 134, "end": 138}], "disease": [{"text": "chromosomal instability", "start": 98, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Combination treatment with Grb7 peptide and Doxorubicin or Trastuzumab (Herceptin) results in cooperative cell growth inhibition in breast cancer cells.", "output": {"entities": {"gene": [{"text": "Grb7", "start": 27, "end": 31}], "disease": [{"text": "breast cancer", "start": 132, "end": 145}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Grb7", "start": 27, "end": 31}, "tail": {"text": "breast cancer", "start": 132, "end": 145}}]}}, "schema": []}
{"input": "These studies suggest a specific role for proteoglycanbound ApoE at the surface of HSPCs to promote cholesterol efflux via ABCA1/ABCG1 and decrease cell proliferation, monocytosis, and atherosclerosis.", "output": {"entities": {"gene": [{"text": "ABCG1", "start": 129, "end": 134}], "disease": [{"text": "monocytosis", "start": 168, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the oncogene rearrangements involving BCL2 and MYC in the leukemia cells of a patient with an aggressive prolymphocytic leukemia that had an abnormal karyotype including a t (14; 18) translocation and a chromosome 17q +.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 55, "end": 59}], "disease": [{"text": "prolymphocytic leukemia", "start": 122, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of myocardial fibrosis markers (CTGF, TGF-beta 1, Collagen I/III) in AF group increased significantly compared to the SR group (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "CTGF", "start": 48, "end": 52}], "disease": [{"text": "myocardial fibrosis", "start": 19, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Association at SYNE1 in both bipolar disorder and recurrent major depression.", "output": {"entities": {"gene": [{"text": "SYNE1", "start": 15, "end": 20}], "disease": [{"text": "recurrent major depression", "start": 50, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SYNE1", "start": 15, "end": 20}, "tail": {"text": "recurrent major depression", "start": 50, "end": 76}}]}}, "schema": []}
{"input": "Magnetic resonance imaging (MRI) allows examining inflammation and central nervous system (CNS) tissue damage in patients suffering from multiple sclerosis (MS), a demyelinating disease of the CNS.", "output": {"entities": {"gene": [{"text": "MRI", "start": 28, "end": 31}], "disease": [{"text": "inflammation", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Cells expressing the IL-6 gene or the IL-1 alpha gene were found scattered inside sarcoid granulomas and in the residual lymphoid tissue.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 43, "end": 53}], "disease": [{"text": "granulomas", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "No association was found between the genotype frequencies of NOX4 and CYBA SNPs and inflammation scores or fibrosis stages in the overall population.", "output": {"entities": {"gene": [{"text": "CYBA", "start": 70, "end": 74}], "disease": [{"text": "inflammation", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "A RUNX3 real-time quantitative methylation-specific PCR (RTQ-MSP) technique we developed was used to analyze the CpG sites in the RUNX3 promoter of 119 colorectal tumors and 344 sera from colorectal cancer patients.", "output": {"entities": {"gene": [{"text": "MSP", "start": 61, "end": 64}], "disease": [{"text": "colorectal tumors", "start": 152, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "However, when we looked at marginal zone lymphoma, a specific subtype of lymphoma characterised by inflammation, we found that homozygosity for the SOD2 16Ala allele was associated with a decreased risk among UK study participants.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 148, "end": 152}], "disease": [{"text": "marginal zone lymphoma", "start": 27, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results strongly demonstrated that B-myb had a critical role in both cell cycle progression and tumorigenesis, and might serve as a novel potential target in the diagnosis and/or treatment of human breast cancer.", "output": {"entities": {"gene": [{"text": "B-myb", "start": 55, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite instability in sporadic carcinomas of the proximal colon: association with diploid DNA content, negative protein expression of p53, and distinct histomorphologic features.", "output": {"entities": {"gene": [{"text": "p53", "start": 142, "end": 145}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Whereas those with t (1; 7)) (q10; p10) showed brief survivals, those with trisomy 1q but monosomy for regions other than 7q survived longer than the remaining patients.", "output": {"entities": {"gene": [{"text": "p10", "start": 35, "end": 38}], "disease": [{"text": "trisomy", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Studies with transgenic mice that over-express AKR1B1 indicate that it is the key protein for the development of diabetic complications including diabetic cataract.", "output": {"entities": {"gene": [{"text": "AKR1B1", "start": 47, "end": 53}], "disease": [{"text": "cataract", "start": 155, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1B1", "start": 47, "end": 53}, "tail": {"text": "cataract", "start": 155, "end": 163}}]}}, "schema": []}
{"input": "Constitutive expression of functional CD40 on mouse renal cancer cells: induction of Fas and Fas-mediated killing by CD40L.", "output": {"entities": {"gene": [{"text": "CD40", "start": 38, "end": 42}], "disease": [{"text": "renal cancer", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In addition, we present evidence for increased LDHA and SOD2 expression in SDHB-PHEOs/PGLs, proteins that have been proposed as promising therapeutic targets in other cancers.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 86, "end": 90}], "disease": [{"text": "cancers", "start": 167, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In non-neoplastic inflammation, such as gastritis, NOVA1 was highly enriched in T lymphocytes and stromal spindle cells, while expression of this protein was frequently decreased in those types of cells within gastric cancer tissues.", "output": {"entities": {"gene": [{"text": "NOVA1", "start": 51, "end": 56}], "disease": [{"text": "non-neoplastic", "start": 3, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We report a new missense SACS mutation (7848C & gt; T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients.", "output": {"entities": {"gene": [{"text": "SACS", "start": 25, "end": 29}], "disease": [{"text": "ARSACS", "start": 138, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SACS", "start": 25, "end": 29}, "tail": {"text": "ARSACS", "start": 138, "end": 144}}]}}, "schema": []}
{"input": "Previous studies have shown that antipsychotics with high propensity for antipsychotic-induced weight gain (AIWG) influence glucose transporter type 4 (GLUT4) mediated glucose intake.", "output": {"entities": {"gene": [{"text": "GLUT4", "start": 152, "end": 157}], "disease": [{"text": "weight gain", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Patients with mild to severe ABCG2 dysfunction accounted for 78. 4% of gout cases.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 29, "end": 34}], "disease": [{"text": "mild", "start": 14, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "APOB", "start": 180, "end": 184}], "disease": [{"text": "blood pressure", "start": 315, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Most of the 32 endometrioid adenocarcinoma cases showed positive KGF and KGFR stainings (90. 6 and 71. 9%, respectively).", "output": {"entities": {"gene": [{"text": "KGF", "start": 65, "end": 68}], "disease": [{"text": "endometrioid adenocarcinoma", "start": 15, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "No significant differences were detected in the minor allele frequency of ACE2 rs2106809, rs2285666, or ACE I/D in either female or male patients with orthostatic hypertension (15. 1%, 22. 7%, 19. 6%, respectively), hypotension (13. 8%, 25%, 16. 5%), or normal orthostatic blood pressure response (14. 4%, 21. 9%, 15. 8%) in additive, dominant or recessive models after adjustment for confounders (all P > 0. 05).", "output": {"entities": {"gene": [{"text": "ACE2", "start": 74, "end": 78}], "disease": [{"text": "hypotension", "start": 216, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Assessment of possible replication in 847 cases of European descent from a large independent sample, the Collaborative Study of the Genetics of Alcoholism, yielded replication for DKK2 but not EGF.", "output": {"entities": {"gene": [{"text": "EGF", "start": 193, "end": 196}], "disease": [{"text": "Alcoholism", "start": 144, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGF", "start": 193, "end": 196}, "tail": {"text": "Alcoholism", "start": 144, "end": 154}}]}}, "schema": []}
{"input": "We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.", "output": {"entities": {"gene": [{"text": "CBFA1", "start": 17, "end": 22}], "disease": [{"text": "CCD", "start": 39, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBFA1", "start": 17, "end": 22}, "tail": {"text": "CCD", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "Interestingly, these cells showed different phenotypic features from the majority of original leukemia cells (CD3 +/-CD4 + CD8-).", "output": {"entities": {"gene": [{"text": "CD4", "start": 117, "end": 120}], "disease": [{"text": "leukemia", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Dental phenotype in Jalili syndrome due to a c. 1312 dupC homozygous mutation in the CNNM4 gene.", "output": {"entities": {"gene": [{"text": "CNNM4", "start": 85, "end": 90}], "disease": [{"text": "Jalili syndrome", "start": 20, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CNNM4", "start": 85, "end": 90}, "tail": {"text": "Jalili syndrome", "start": 20, "end": 35}}]}}, "schema": []}
{"input": "Overall, these results suggest that PKCι is functionally important in alveolar rhabdomyosarcoma anchorage-independent growth and tumor-cell proliferation and that combination therapy with ATM and microtubule inhibitors holds promise for the treatment of alveolar rhabdomyosarcoma.", "output": {"entities": {"gene": [{"text": "ATM", "start": 188, "end": 191}], "disease": [{"text": "alveolar rhabdomyosarcoma", "start": 70, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "smoking and alcohol were tested, drinkers seemed to be at lower risk than nondrinkers when carrying the heterozygous genotype Ile/Val in codon 432 of CYP1B1 (OR = 0. 42; 95% CI = 0. 21-0. 83; p = 0. 013 vs. OR = 1. 02; 95% CI = 0. 34-2. 94; p = 0. 977).", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 150, "end": 156}], "disease": [{"text": "smoking", "start": 0, "end": 7}]}, "relations": {}}, "schema": []}
{"input": "Human IL-21 and IL-21R deficiencies cause severe, primary immunodeficiency reminiscent of common variable immunodeficiency.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 6, "end": 11}], "disease": [{"text": "common variable immunodeficiency", "start": 90, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In the case of TRH, higher doses were needed to induce such effects. NS-3 (0. 1-0. 3 mg/kg, i. v.) reversed the pentobarbital-induced narcosis in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "TRH", "start": 15, "end": 18}], "disease": [{"text": "narcosis", "start": 134, "end": 142}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 15, "end": 18}, "tail": {"text": "narcosis", "start": 134, "end": 142}}]}}, "schema": []}
{"input": "This case was associated with a more aggressive course than typically seen with B-CLL or malignant lymphoma, small lymphocytic type, implying along with previous reports that CD2 expression may serve as a marker of small lymphocytic tumor cell behavior and the ultimate clinical course.", "output": {"entities": {"gene": [{"text": "CD2", "start": 175, "end": 178}], "disease": [{"text": "malignant lymphoma, small lymphocytic", "start": 89, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We conducted an association study by genotyping four SNPs (rs2244012 and rs6871536 in RAD50 as well as rs1295686 and rs1800925 in IL13) in 652 asthmatic children and age-matched 752 healthy controls from Northeastern Han Chinese to evaluate the asthma susceptibility with each individual SNP using SNaPshot genotyping method.", "output": {"entities": {"gene": [{"text": "RAD50", "start": 86, "end": 91}], "disease": [{"text": "asthma susceptibility", "start": 245, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Oligoasthenoteratozoospermia (OAT) is a phenotype frequently observed in infertile men, and is defined by low spermatozoa number, abnormal spermatozoa morphology and poor motility.", "output": {"entities": {"gene": [{"text": "OAT", "start": 30, "end": 33}], "disease": [{"text": "infertile", "start": 73, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Exposure of C6 glioma cells to lipopopolysaccharide (LPS) resulted in increased expression of NOS2 and production of NO that was dramatically potentiated by Mn and was blocked through overexpression of mutant IkappaBalpha (S32/36A).", "output": {"entities": {"gene": [{"text": "NOS2", "start": 94, "end": 98}], "disease": [{"text": "glioma", "start": 15, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Clinically, patients with mutations in C2ORF71 show signs of typical RP; these signs include poor night vision and peripheral field loss, typical retinal bone-spicule-type pigment deposits, pale appearance of the optic disk, and markedly reduced or completely extinguished electroretinograms.", "output": {"entities": {"gene": [{"text": "C2ORF71", "start": 39, "end": 46}], "disease": [{"text": "pigment", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2,-4, and-5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy.", "output": {"entities": {"gene": [{"text": "EIF2B", "start": 79, "end": 84}], "disease": [{"text": "childhood ataxia with central nervous system hypomyelination", "start": 144, "end": 204}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EIF2B", "start": 79, "end": 84}, "tail": {"text": "childhood ataxia with central nervous system hypomyelination", "start": 144, "end": 204}}]}}, "schema": []}
{"input": "After a 12-week high-fat diet (60% fat), lgals3 (-/-) mice had lower body weight and eWAT mass than lgals3 (+/+) mice.", "output": {"entities": {"gene": [{"text": "lgals3", "start": 41, "end": 47}], "disease": [{"text": "body weight", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Expression of growth factors and their receptors in human esophageal carcinomas: regulation of expression by epidermal growth factor and transforming growth factor alpha.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 109, "end": 132}], "disease": [{"text": "esophageal", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "These studies suggest that increased expression of cyclin D1 is an early event in the tumorigenic process of esophageal adenocarcinomas and that the increased expression of this gene might predispose the epithelium to malignant transformation.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 51, "end": 60}], "disease": [{"text": "esophageal", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Using quantitative polymerase chain reaction (PCR), we found that high levels of JAK2 617V > F in PV correlate with increased granulocytes and high levels of hemoglobin and endogenous erythroid colony formation.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 81, "end": 85}], "disease": [{"text": "hemoglobin", "start": 158, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In addition, our detailed mutational analysis of MID1 in a cohort of 15 patients with OS has resulted in the identification of seven novel mutations, two of which disrupt the N-terminus of the protein.", "output": {"entities": {"gene": [{"text": "MID1", "start": 49, "end": 53}], "disease": [{"text": "OS", "start": 86, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MID1", "start": 49, "end": 53}, "tail": {"text": "OS", "start": 86, "end": 88}}]}}, "schema": []}
{"input": "The Hsp90 cochaperone FK506 binding protein 5 (FKBP5) is an established regulator of the glucocorticoid receptor (GR), and numerous genetic studies have linked it to stress-related diseases such as major depression or posttraumatic stress disorder.", "output": {"entities": {"gene": [{"text": "Hsp90", "start": 4, "end": 9}], "disease": [{"text": "major depression", "start": 198, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hsp90", "start": 4, "end": 9}, "tail": {"text": "major depression", "start": 198, "end": 214}}]}}, "schema": []}
{"input": "CLB/LN pathology is the most significant correlate of dementia in PD.", "output": {"entities": {"gene": [{"text": "CLB", "start": 0, "end": 3}], "disease": [{"text": "dementia", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 22, "end": 42}], "disease": [{"text": "neurohypophyseal diabetes insipidus", "start": 99, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "arginine vasopressin", "start": 22, "end": 42}, "tail": {"text": "neurohypophyseal diabetes insipidus", "start": 99, "end": 134}}]}}, "schema": []}
{"input": "Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 31, "end": 36}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) mainly characterized by recurrent intracellular mycobacterium or/and salmonella infections, we comprehensively investigated IL12/23-IFN-γ signaling, candidate genetic sequencings or/and protein expressions of IL12RB1, IFNRG1, IL12p40, IFNRG2, STAT1, IKKA, NEMO, CYBB and IRF8 in four patients.", "output": {"entities": {"gene": [{"text": "IFN", "start": 96, "end": 99}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of these mutations demonstrated that retinal disease may result from perturbation of pH homeostasis in the outer retina, after disruption of CAIV and sodium bicarbonate cotransporter 1 (NBC1)-mediated bicarbonate transport.", "output": {"entities": {"gene": [{"text": "CAIV", "start": 161, "end": 165}], "disease": [{"text": "retinal disease", "start": 57, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We identified previously unknown 5' fusion partners in prostate tumours with ETV1 outlier expression, including untranslated regions from a prostate-specific androgen-induced gene (SLC45A3) and an endogenous retroviral element (HERV-K_22q11. 23), a prostate-specific androgen-repressed gene (C15orf21), and a strongly expressed housekeeping gene (HNRPA2B1).", "output": {"entities": {"gene": [{"text": "ETV1", "start": 77, "end": 81}], "disease": [{"text": "prostate tumours", "start": 55, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ETV1", "start": 77, "end": 81}, "tail": {"text": "prostate tumours", "start": 55, "end": 71}}]}}, "schema": []}
{"input": "Down-regulation of miR-206 is associated with Hirschsprung disease and suppresses cell migration and proliferation in cell models.", "output": {"entities": {"gene": [{"text": "miR-206", "start": 19, "end": 26}], "disease": [{"text": "Hirschsprung disease", "start": 46, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-206", "start": 19, "end": 26}, "tail": {"text": "Hirschsprung disease", "start": 46, "end": 66}}]}}, "schema": []}
{"input": "Six of these Dravet syndrome patients with SCN9A missense variants also harbored either missense or splice site SCN1A mutations and three had no SCN1A mutations.", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 43, "end": 48}], "disease": [{"text": "Dravet syndrome", "start": 13, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN9A", "start": 43, "end": 48}, "tail": {"text": "Dravet syndrome", "start": 13, "end": 28}}]}}, "schema": []}
{"input": "In the HTN genes population, there were no significant differences based on the number of functional CYP3A5 alleles, in systolic blood pressure (SBP) or diastolic blood pressure (DBP) among the normotensive whites or blacks (all P > or = 0. 70) or in allele frequency between normotensives and hypertensives.", "output": {"entities": {"gene": [{"text": "DBP", "start": 179, "end": 182}], "disease": [{"text": "systolic blood pressure", "start": 120, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "After ischemia, p75 (NTR) and NADE were induced in degenerating rat hippocampal CA1 neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 80, "end": 83}], "disease": [{"text": "ischemia", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase multiprotein complex.", "output": {"entities": {"gene": [{"text": "PSEN1", "start": 178, "end": 183}], "disease": [{"text": "skin lesions", "start": 74, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.", "output": {"entities": {"gene": [{"text": "aspartoacylase", "start": 26, "end": 40}], "disease": [{"text": "Canavan disease", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aspartoacylase", "start": 26, "end": 40}, "tail": {"text": "Canavan disease", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "TSPO modulation with ligands in the Alzheimer' s disease mouse model showed improvement in behavioral symptoms, and studies in Drosophila species showed increased cell survival and prolonged lifespan in flies after TSPO inhibition.", "output": {"entities": {"gene": [{"text": "TSPO", "start": 0, "end": 4}], "disease": [{"text": "behavioral symptoms", "start": 91, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, MCP-4 correlated with homeostasis model assessment of insulin resistance (r = 0. 392, p = 0. 002), high-sensitivity C-reactive protein (hsCRP) (r = 0. 350, p = 0. 006).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 129, "end": 147}], "disease": [{"text": "insulin resistance", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The lipid and protein phosphatase, PTEN (Phosphatase and Tensin homology protein on chromosome 10), is a known tumor suppressor whose function is frequently lost in various malignancies due to mutations in the coding region or genomic deletions.", "output": {"entities": {"gene": [{"text": "Tensin", "start": 57, "end": 63}], "disease": [{"text": "malignancies", "start": 173, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Treatment of nude mice bearing subcutaneously established HCC tumors with a combination of an adenovirus expressing TIP30 and the cytotoxic drug 5-fluorouracil completely suppressed tumor growth and prolonged survival.", "output": {"entities": {"gene": [{"text": "HCC", "start": 58, "end": 61}], "disease": [{"text": "adenovirus", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "There was a profound decrease in bone formation rate (BFR) with aging in CTR rats, whereas PTH treatment resulted in a significant relative 1. 5-, 3-, and 4. 7-fold increase in BFR, without altering indices of bone resorption.", "output": {"entities": {"gene": [{"text": "CTR", "start": 73, "end": 76}], "disease": [{"text": "bone resorption", "start": 210, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in autism.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 57, "end": 64}], "disease": [{"text": "language delays", "start": 160, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTNAP2", "start": 57, "end": 64}, "tail": {"text": "language delays", "start": 160, "end": 175}}]}}, "schema": []}
{"input": "Using microcomputed tomography, histology, and serum markers, we found that EPO induced a 32%-61% trabecular bone loss caused by increased bone resorption (+ 60%-88% osteoclast number) and reduced bone formation rate (-19 to-74%; P < 0. 05 throughout).", "output": {"entities": {"gene": [{"text": "EPO", "start": 76, "end": 79}], "disease": [{"text": "bone resorption", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that alteration of the p53 gene is implicated in the development of cancers complicating ulcerative colitis, as it is in the development of sporadic colorectal cancers, and it appears to be involved at a relatively early stage.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 43, "end": 51}], "disease": [{"text": "sporadic", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In unirradiated lymphoblasts, & #947; H2AX levels were significantly increased in the schizophrenia group compared with controls (effect size = 0. 86).", "output": {"entities": {"gene": [{"text": "H2AX", "start": 38, "end": 42}], "disease": [{"text": "schizophrenia", "start": 86, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "H2AX", "start": 38, "end": 42}, "tail": {"text": "schizophrenia", "start": 86, "end": 99}}]}}, "schema": []}
{"input": "beta2-adrenergic receptor gene polymorphisms in myasthenia gravis (MG).", "output": {"entities": {"gene": [{"text": "beta2", "start": 0, "end": 5}], "disease": [{"text": "myasthenia gravis", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The upregulation of CXCR4 and downregulation of CXCR7 expression by PAX3-FKHR or hypoxia may give SDF-1 an advantage to better engage the CXCR4 receptor, thus increasing RMS motility.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 68, "end": 72}], "disease": [{"text": "hypoxia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Compared with parental T24-L cells, epithelial-like T24-B cells displayed increased adhesion but decreased migration or invasion abilities as well as up-regulation of cytokeratins and down-regulation of vimentin, N-cadherin and MMP2.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 228, "end": 232}], "disease": [{"text": "adhesion", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic reactivation of Nrf2 in murine prostate cancer TRAMP C1 cells by natural phytochemicals Z-ligustilide and Radix angelica sinensis via promoter CpG demethylation.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 27, "end": 31}], "disease": [{"text": "prostate cancer", "start": 42, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nrf2", "start": 27, "end": 31}, "tail": {"text": "prostate cancer", "start": 42, "end": 57}}]}}, "schema": []}
{"input": "AMOG-mediated Akt phosphorylation specifically activates the mTOR/p70S6 kinase pathway previously implicated in cell size regulation, but it does not depend on tuberous sclerosis complex/Ras homolog enriched in brain (Rheb) signaling.", "output": {"entities": {"gene": [{"text": "AMOG", "start": 0, "end": 4}], "disease": [{"text": "tuberous sclerosis complex", "start": 160, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Here, we reveal higher levels of glutamate in the plasma of PKC patients and the culture medium of neurons following knock-out Prrt2 expression.", "output": {"entities": {"gene": [{"text": "Prrt2", "start": 127, "end": 132}], "disease": [{"text": "PKC", "start": 60, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Prrt2", "start": 127, "end": 132}, "tail": {"text": "PKC", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "As another new mechanism underlying MSI, overexpression of miR-155 or miR-21 has been shown to downregulate the expression of the MMR genes.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 70, "end": 76}], "disease": [{"text": "MSI", "start": 36, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-21", "start": 70, "end": 76}, "tail": {"text": "MSI", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "We therefore assessed PIK3CA for mutation in human neuroblastomas, as well as in neuroblastomas arising in transgenic mice with MYCN overexpressed in neural-crest tissues.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 22, "end": 28}], "disease": [{"text": "crest", "start": 157, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "After multivariate adjustment, the CYP1B1 rs162555 CC genotype was associated with a 9. 4% higher mammographic density than the TC/TT genotype (P = 0. 04).", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 35, "end": 41}], "disease": [{"text": "mammographic density", "start": 98, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In this study the proportion of sporadic and familial malignant melanoma (MM) cases harbouring 1100delC in CHK2 was determined to assess whether this mutation is associated with the occurrence of MM.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 107, "end": 111}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Since identification of the NF2 gene more than a decade ago, a large body of information has been collected on the nature and consequences of these alterations in patients with NF2 and in individuals in whom sporadic tumors associated with NF2 develop.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 28, "end": 36}], "disease": [{"text": "sporadic", "start": 208, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the expression of LPL enzyme protein is impaired in patients with hypertriglyceridemia coupled with hypertension, impaired glucose tolerance and hyperinsulinemia, and the impaired expression of LPL recovers during treatment with bezafibrate, resulting in improvement of hypertriglyceridemia.", "output": {"entities": {"gene": [{"text": "LPL", "start": 45, "end": 48}], "disease": [{"text": "hypertriglyceridemia", "start": 93, "end": 113}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LPL", "start": 45, "end": 48}, "tail": {"text": "hypertriglyceridemia", "start": 93, "end": 113}}]}}, "schema": []}
{"input": "We conclude that the ANX7 gene exhibits many biological and genetic properties expected of a TSG and may play a role in prostate cancer progression.", "output": {"entities": {"gene": [{"text": "TSG", "start": 93, "end": 96}], "disease": [{"text": "prostate cancer", "start": 120, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that telomerase is expressed during the early stage of gastric carcinogenesis, and that the clinical significance of TRF length appears to be limited in gastric cancer.", "output": {"entities": {"gene": [{"text": "TRF", "start": 137, "end": 140}], "disease": [{"text": "gastric cancer", "start": 173, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The hallmark of SEB-induced lethal shock is acute vasodilation leading to severe hypotension.", "output": {"entities": {"gene": [{"text": "SEB", "start": 16, "end": 19}], "disease": [{"text": "hypotension", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Isodicentric Y (p11. 32) chromosome in an infant with mixed gonadal dysgenesis.", "output": {"entities": {"gene": [{"text": "p11", "start": 16, "end": 19}], "disease": [{"text": "mixed gonadal dysgenesis", "start": 54, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The constitutive expression of MUC2 and MUC3 mRNA in inflammatory bowel diseases suggests that these genes may be necessary for maintenance of normal epithelial cell function during inflammation.", "output": {"entities": {"gene": [{"text": "MUC3", "start": 40, "end": 44}], "disease": [{"text": "inflammation", "start": 182, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "After the onset of stroke, an increase in AcPAO first occurred, followed by increased levels of SMO and finally acrolein.", "output": {"entities": {"gene": [{"text": "SMO", "start": 96, "end": 99}], "disease": [{"text": "stroke", "start": 19, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMO", "start": 96, "end": 99}, "tail": {"text": "stroke", "start": 19, "end": 25}}]}}, "schema": []}
{"input": "Genes with altered expression in the heart due to hyperlipidemia included procollagen type III, cofilin/destrin, tensin, transcription repressor p66, synaptic vesicle protein 2B, Hsp86, chaperonin subunit 5epsilon, metallothionein, glutathione S-transferase, protein kinase C inhibitor, ATP synthase subunit c, creatine kinase, chloride intracellular channel 4, NADH oxidoreductase and dehydrogenase, fibronectin receptor beta chain, CD81 antigen, farnesyltransferase, calreticulin, disintegrin, p120 catenin, Smad7, etc.", "output": {"entities": {"gene": [{"text": "Smad7", "start": 510, "end": 515}], "disease": [{"text": "hyperlipidemia", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "There was a significant difference in the overall distribution of the haplotype (UCP3 rs180049, UCP3 rs2075577, UCP2 rs660339) between the weight groups (P = 0. 010), and in women, there was a significant difference (P = 0. 042) in the overall distribution of the haplotype (UCP3 rs2075577, UCP2 rs660339).", "output": {"entities": {"gene": [{"text": "UCP2", "start": 112, "end": 116}], "disease": [{"text": "weight", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review previously reported cases.", "output": {"entities": {"gene": [{"text": "CHN", "start": 124, "end": 127}], "disease": [{"text": "congenital hypomyelinating neuropathy", "start": 85, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that hypoxia and REDD1 suppress mammalian TORC1 (mTORC1) activity by releasing TSC2 from its growth factor-induced association with inhibitory 14-3-3 proteins.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 70, "end": 76}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "CT administration produced a significantly reduction (p & lt; 0. 05) in the mechanical hyperalgesia induced by CG, TNF-& #945;, PGE2 and DA when compared with control group.", "output": {"entities": {"gene": [{"text": "TNF", "start": 115, "end": 118}], "disease": [{"text": "mechanical hyperalgesia", "start": 76, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 115, "end": 118}, "tail": {"text": "mechanical hyperalgesia", "start": 76, "end": 99}}]}}, "schema": []}
{"input": "A cohort of 1163 unrelated patients with IBD (874 Crohn' s disease, 259 ulcerative colitis, 30 indeterminate colitis) and 312 controls were analysed for anti-Saccharomyces cerevisiae antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6.", "output": {"entities": {"gene": [{"text": "TLR6", "start": 470, "end": 474}], "disease": [{"text": "indeterminate colitis", "start": 95, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Sonic hedgehog (Hh) developmental pathway deregulation has been proven to play an essential role in several malignancies as neuroblastoma.", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 0, "end": 14}], "disease": [{"text": "neuroblastoma", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study is to investigate the clinical relevance of deletion of ovarian carcinoma 2/disabled homolog 2 (DOC-2/DAB2) interacting protein (DAB2IP) expression in human urothelial carcinoma (UC).", "output": {"entities": {"gene": [{"text": "DAB2IP", "start": 155, "end": 161}], "disease": [{"text": "ovarian carcinoma", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "However, in colorectal cancer (CRC) cells, the mechanisms that regulate SOCS and SHP1 genes, and the cause of abnormalities in the JAK/STAT signaling pathway, remain largely unknown.", "output": {"entities": {"gene": [{"text": "SHP1", "start": 81, "end": 85}], "disease": [{"text": "abnormalities", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene.", "output": {"entities": {"gene": [{"text": "NF1", "start": 25, "end": 28}], "disease": [{"text": "NF1", "start": 100, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 25, "end": 28}, "tail": {"text": "NF1", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "To explore the effects of NDG on stereotyped behavior, homovanillic acid (HVA) in sera, dopamine (DA) and dopamine D2 receptor (DRD2) in striatum in TS rats.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 128, "end": 132}], "disease": [{"text": "stereotyped behavior", "start": 33, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Studies have demonstrated that adenovirus subtype 5 mediated rat insulin promoter directed thymidine kinase (A-5-RIP-TK)/ganciclovir (GCV) gene therapy resulted in significant enhanced cytotoxicity to both PANC-1 and MIA PaCa2 pancreatic cancer cells in vitro.", "output": {"entities": {"gene": [{"text": "MIA", "start": 217, "end": 220}], "disease": [{"text": "adenovirus", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "In the present study we investigated, by means of zymography and reverse transcription-polymerase chain reaction (RT-PCR), the expression of different matrix metalloproteinases (MMPs) and of the specific tissue inhibitor of metalloproteinases [TIMPs] in human cell lines derived from normal thyrocytes (HTU5), follicular adenoma (HTU42), and follicular (FTC-133), papillary (B-CPAP), and anaplastic (CAL-62, 8305C) thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "CPAP", "start": 377, "end": 381}], "disease": [{"text": "carcinomas", "start": 423, "end": 433}]}, "relations": {}}, "schema": []}
{"input": "Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.", "output": {"entities": {"gene": [{"text": "AIRE", "start": 6, "end": 10}], "disease": [{"text": "APECED", "start": 102, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 6, "end": 10}, "tail": {"text": "APECED", "start": 102, "end": 108}}]}}, "schema": []}
{"input": "Mutations in BRCA1 and BRCA2 account only for a relatively small proportion of breast cancers, even within the group of familiar clusters, they seem to be virtually non-existing in sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 23, "end": 28}], "disease": [{"text": "sporadic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive neurological or non-neurological manifestations (complex or complicated SPG).", "output": {"entities": {"gene": [{"text": "SPG", "start": 31, "end": 34}], "disease": [{"text": "progressive spasticity", "start": 156, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to assess the biologic significance of p53, heat shock protein 70 (Hsp70), Ki67, and CD34 and their influence on survival in patients with tongue cancer.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 92, "end": 96}], "disease": [{"text": "tongue cancer", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In the present study, oxytocin (OXT) receptor was detected at the protein level in total cell lysates from C81 (an androgen-independent subline of LNCaP), DU145 and PC3 prostate cancer cells, but not in immortalized normal prostate luminal epithelial cells (RWPE1), and OXT-induced migration of PC3 cells.", "output": {"entities": {"gene": [{"text": "OXT", "start": 32, "end": 35}], "disease": [{"text": "prostate cancer", "start": 169, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Hepatocyte growth factor both prevents and ameliorates the symptoms of dermal sclerosis in a mouse model of scleroderma.", "output": {"entities": {"gene": [{"text": "Hepatocyte growth factor", "start": 0, "end": 24}], "disease": [{"text": "sclerosis", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Forty-four male SD rats were randomly divided into 8 groups: 4-week control group (n = 7), 4-week shunt group (n = 7), 4-week shunt + propargylglycine (PPG, an endogenous H2S release inhibitor) intraperitoneal injection group (n = 8), 11-week control group (n = 7), 11-week shunt group (n = 7), and 11-week shunt + sodium hydrosulfide (NaHS, a H2S donor) intraperitoneal injection group (n = 8).", "output": {"entities": {"gene": [{"text": "PPG", "start": 152, "end": 155}], "disease": [{"text": "shunt", "start": 98, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Noteworthy, BATF, crucial for the immunoglobulin-class-switch and T (H2), T (H17) development, was found down-regulated in the lungs of T-bet ((-/-)) mice after SIT and after treatment with anti-IL-6R antibody, indicating a critical role of IL-6 in controlling BATF/IRF4 integrated functions in T (H2), T (H17) cells and B cells also in a T-bet independent fashion in allergic asthma.", "output": {"entities": {"gene": [{"text": "H17", "start": 77, "end": 80}], "disease": [{"text": "allergic asthma", "start": 368, "end": 383}]}, "relations": {}}, "schema": []}
{"input": "Eight additional patients with AR cerebellar ataxia and atrophy were screened for mutations in the CABC1/ADCK3 gene.", "output": {"entities": {"gene": [{"text": "ADCK3", "start": 105, "end": 110}], "disease": [{"text": "atrophy", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The percentage of immunohistochemical positivity for p16 had the following distribution across the groups: VIN: 21. 4% (6/28), cancer: 24. 3% (9/37) and control: absent (p = 0. 202).", "output": {"entities": {"gene": [{"text": "VIN", "start": 107, "end": 110}], "disease": [{"text": "cancer", "start": 127, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.", "output": {"entities": {"gene": [{"text": "EMG1", "start": 54, "end": 58}], "disease": [{"text": "Bowen-Conradi syndrome", "start": 67, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EMG1", "start": 54, "end": 58}, "tail": {"text": "Bowen-Conradi syndrome", "start": 67, "end": 89}}]}}, "schema": []}
{"input": "Insights into this role have emerged from studies on the tumour suppressor BRCA2, whose inactivation in human cancers causes chromosomal instability through the loss of essential functions of the BRCA2 protein in the normal mechanisms responsible for the replication, repair and segregation of DNA during cell division.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 75, "end": 80}], "disease": [{"text": "chromosomal instability", "start": 125, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "A second level of molecular genetic heterogeneity stems from the variation in the location of the translocation breakpoints, resulting in the inclusion of different combinations of exons from EWS and FLI1 (or ERG) in the fusion products.", "output": {"entities": {"gene": [{"text": "EWS", "start": 192, "end": 195}], "disease": [{"text": "translocation", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVES: We have previously shown that genetic variance in NEDD4L, a regulating protein of a sodium channel in the distal nephron, has been associated with marginally higher blood pressure and enhanced salt sensitivity.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 62, "end": 68}], "disease": [{"text": "blood pressure", "start": 177, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Jumonji domain containing 1A is a novel prognostic marker for colorectal cancer: in vivo identification from hypoxic tumor cells.", "output": {"entities": {"gene": [{"text": "Jumonji", "start": 0, "end": 7}], "disease": [{"text": "hypoxic", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In intestinal samples of BD, TLR-2 and TLR-4 mRNA were detected in ileocaecal ulcer lesions, but not in unaffected sites of the same sample, indicating the association of the TLR expression with the disease manifestation of intestinal BD.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 39, "end": 44}], "disease": [{"text": "ulcer", "start": 78, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Role of TPPP/p25 on α-synuclein-mediated oligodendroglial degeneration and the protective effect of SIRT2 inhibition in a cellular model of multiple system atrophy.", "output": {"entities": {"gene": [{"text": "SIRT2", "start": 100, "end": 105}], "disease": [{"text": "multiple system atrophy", "start": 140, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "NF-kappaB regulates transcription of adhesion molecules and chemokines.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 0, "end": 9}], "disease": [{"text": "adhesion", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The authors' results in this study indicate that IL-6 expression may contribute to the development of brain edema associated with meningiomas.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 49, "end": 53}], "disease": [{"text": "brain edema", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene.", "output": {"entities": {"gene": [{"text": "ROCK2", "start": 67, "end": 72}], "disease": [{"text": "heterotaxia", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The transforming growth factor beta (TGF-beta) pathway regulates vascular remodeling and mutations in its receptor genes, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysm (TAA).", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 133, "end": 139}], "disease": [{"text": "vascular remodeling", "start": 65, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We screened the entire coding region of the APC gene for mutations in an unselected series of 105 Dutch FAP kindreds.", "output": {"entities": {"gene": [{"text": "APC", "start": 44, "end": 47}], "disease": [{"text": "FAP", "start": 104, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APC", "start": 44, "end": 47}, "tail": {"text": "FAP", "start": 104, "end": 107}}]}}, "schema": []}
{"input": "The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression.", "output": {"entities": {"gene": [{"text": "NPAS2", "start": 263, "end": 268}], "disease": [{"text": "bipolar disorder", "start": 232, "end": 248}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS2", "start": 263, "end": 268}, "tail": {"text": "bipolar disorder", "start": 232, "end": 248}}]}}, "schema": []}
{"input": "Sanger sequencing of CDH23 p. P240L was performed on connexin-negative samples without enlarged vestibular aqueducts (EVA), followed by targeted resequencing of 129 deafness genes, including CDH23, unless p. P240L homozygotes were detected in the first screening.", "output": {"entities": {"gene": [{"text": "EVA", "start": 118, "end": 121}], "disease": [{"text": "deafness", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aim to determine whether EFEMP1 affects the tumorigenesis and progression of endometrial carcinoma.", "output": {"entities": {"gene": [{"text": "EFEMP1", "start": 43, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Functional studies are required to validate the potential involvement of KCNIP4 in modulating asthma susceptibility and/or AHR.", "output": {"entities": {"gene": [{"text": "AHR", "start": 123, "end": 126}], "disease": [{"text": "asthma susceptibility", "start": 94, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "PON1 haplotypes segregate with HIV infection, HDL metabolism, the presence of subclinical atherosclerosis, and CD4 (+) cell recovery after treatment.", "output": {"entities": {"gene": [{"text": "CD4", "start": 111, "end": 114}], "disease": [{"text": "atherosclerosis", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Twenty of 43 (47%) and 10 of 26 (38%) primary breast cancer samples which showed downregulation of TSLC1 and DAL-1 expression were unmethylated for these genes.", "output": {"entities": {"gene": [{"text": "DAL-1", "start": 109, "end": 114}], "disease": [{"text": "breast cancer", "start": 46, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAL-1", "start": 109, "end": 114}, "tail": {"text": "breast cancer", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "The changes in LRIG1 and epidermal growth factor receptor (EGFR) protein levels were measured by Western blot; growth curves were estimated by the tetrazolium (MTT) assay; then cell-cell adhesion, cell-matrix adhesion and cell invasion assays were used to measure proliferation, adhesion and invasion in LGIR1-transfected and control cells.", "output": {"entities": {"gene": [{"text": "LRIG1", "start": 15, "end": 20}], "disease": [{"text": "adhesion", "start": 187, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We have successfully isolated a cell line (IEC-1) from an intraepidermal carcinoma of the skin of a patient and compared its behavior, in vitro, to normal human epidermal keratinocytes (HEK) and squamous cell carcinoma cell lines (SCCs).", "output": {"entities": {"gene": [{"text": "HEK", "start": 186, "end": 189}], "disease": [{"text": "squamous cell carcinoma", "start": 195, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "COX-2-derived prostanoids play a fundamental role in the development of Ang II-induced AAAs in both hyperlipidemic and nonhyperlipidemic mice.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 0, "end": 5}], "disease": [{"text": "AAA", "start": 87, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 0, "end": 5}, "tail": {"text": "AAA", "start": 87, "end": 90}}]}}, "schema": []}
{"input": "Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL.", "output": {"entities": {"gene": [{"text": "cathepsin D", "start": 41, "end": 52}], "disease": [{"text": "NCL", "start": 142, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cathepsin D", "start": 41, "end": 52}, "tail": {"text": "NCL", "start": 142, "end": 145}}]}}, "schema": []}
{"input": "GST pi expression was studied in transgenic mice hybrids (B6-C3H) with symptoms of neurodegeneration harboring SOD1G93A (SOD1/+), Dync1h1 (Cra1/+) and double (Cra1/SOD1) mutations, at presymptomatic and symptomatic stages (age 70, 140, 365 days) using RT-PCR and Western blotting.", "output": {"entities": {"gene": [{"text": "Dync1h1", "start": 130, "end": 137}], "disease": [{"text": "neurodegeneration", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Gq alpha and PLC-beta may play important roles in scar remodeling as well as cardiac hypertrophy and fibrosis of the surviving tissue in post-MI rat heart.", "output": {"entities": {"gene": [{"text": "PLC", "start": 13, "end": 16}], "disease": [{"text": "scar", "start": 50, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Increased Her2 expression may potentially lead to an aggressive behavior of tumor cells through the stimulation of tumor cell proliferation because Her2 staining was shown to be significantly associated with Ki67 labeling index.", "output": {"entities": {"gene": [{"text": "Her2", "start": 10, "end": 14}], "disease": [{"text": "aggressive behavior", "start": 53, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4. 1. 40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized.", "output": {"entities": {"gene": [{"text": "NF1", "start": 105, "end": 108}], "disease": [{"text": "NF1", "start": 211, "end": 214}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 105, "end": 108}, "tail": {"text": "NF1", "start": 211, "end": 214}}]}}, "schema": []}
{"input": "Immunostaining analysis of p53 protein accumulation suggested that alterations of the p53 gene are as common in familial as in sporadic gliomas.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 86, "end": 94}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Thus, detection of t (1; 14) (p22; q32) and t (11; 18) (q21; q21) is useful in the differential diagnosis between lymphoplasmacytic lymphoma and mucosa-associated lymphoid tissue lymphoma.", "output": {"entities": {"gene": [{"text": "p22", "start": 30, "end": 33}], "disease": [{"text": "mucosa-associated lymphoid tissue lymphoma", "start": 145, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Sulindac enhances adenoviral vector expressing mda-7/IL-24-mediated apoptosis in human lung cancer.", "output": {"entities": {"gene": [{"text": "mda-7", "start": 47, "end": 52}], "disease": [{"text": "lung cancer", "start": 87, "end": 98}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "mda-7", "start": 47, "end": 52}, "tail": {"text": "lung cancer", "start": 87, "end": 98}}]}}, "schema": []}
{"input": "Association analysis between the prostaglandin E synthase 2 R298H polymorphism and body mass index in 8079 participants of the KORA study cohort.", "output": {"entities": {"gene": [{"text": "prostaglandin E synthase 2", "start": 33, "end": 59}], "disease": [{"text": "body mass index", "start": 83, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "AKT2", "start": 36, "end": 40}], "disease": [{"text": "breast tumors", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT2", "start": 36, "end": 40}, "tail": {"text": "breast tumors", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "In cell-spreading assays, CD147 was found to be essential for dynamic focal adhesion enlargement and disassembly.", "output": {"entities": {"gene": [{"text": "CD147", "start": 26, "end": 31}], "disease": [{"text": "enlargement", "start": 85, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "MiR-221 promotes the development of androgen independence in prostate cancer cells via downregulation of HECTD2 and RAB1A.", "output": {"entities": {"gene": [{"text": "HECTD2", "start": 105, "end": 111}], "disease": [{"text": "prostate cancer", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).", "output": {"entities": {"gene": [{"text": "GK1", "start": 26, "end": 29}], "disease": [{"text": "galactokinase deficiency", "start": 54, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GK1", "start": 26, "end": 29}, "tail": {"text": "galactokinase deficiency", "start": 54, "end": 78}}]}}, "schema": []}
{"input": "The study also aimed to examine the effect of ARHI on the activity of the nuclear factor (NF)-κB and to determine whether ARHI acts as a tumor suppressor in the development of pancreatic cancer by inhibiting the activity of NF-κB.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 46, "end": 50}], "disease": [{"text": "pancreatic cancer", "start": 176, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin).", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 135, "end": 147}], "disease": [{"text": "medulloblastomas", "start": 27, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-catenin", "start": 135, "end": 147}, "tail": {"text": "medulloblastomas", "start": 27, "end": 43}}]}}, "schema": []}
{"input": "We analyzed XAF1 methylation in a panel of 16 GB cell lines and 80 patients with first-diagnosed WHO grade III/IV high-grade gliomas using methylation-sensitive high-resolution melt (MS-HRM) analysis.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 12, "end": 16}], "disease": [{"text": "gliomas", "start": 125, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XAF1", "start": 12, "end": 16}, "tail": {"text": "gliomas", "start": 125, "end": 132}}]}}, "schema": []}
{"input": "Consistent with a pathogenic role for MRP4 in PAH, WT mice exposed to hypoxia for 3 weeks showed reversal of hypoxic pulmonary hypertension (PH) following oral administration of the MRP4 inhibitor MK571, and Mrp4-/-mice were protected from hypoxic PH.", "output": {"entities": {"gene": [{"text": "Mrp4", "start": 208, "end": 212}], "disease": [{"text": "hypoxic", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We conclude that 1) sporadic hypoparathyroidism can be caused by de novo gain-of-function mutations of the CaR; 2) the phenotype can vary from mild to life-threatening hypocalcemia; 3) gain-of-function mutations can involve not only extracellular regions, as previously reported, but also transmembrane domains of the CaR; and 4) the mechanism of activation can involve both increased receptor sensitivity to Ca2 + and increased maximal signal transduction.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 409, "end": 412}], "disease": [{"text": "hypoparathyroidism", "start": 29, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Depression and fatigue during chronic IFN-& #945; administration were associated with alterations in the expression (OAS2) and transcriptional control (CREB/ATF) of genes linked to behavioral disorders including CFS and major depression, further supporting an immune contribution to these diseases.", "output": {"entities": {"gene": [{"text": "OAS2", "start": 117, "end": 121}], "disease": [{"text": "major depression", "start": 220, "end": 236}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OAS2", "start": 117, "end": 121}, "tail": {"text": "major depression", "start": 220, "end": 236}}]}}, "schema": []}
{"input": "AKAP95 pathway and pantothenate and CoA biosynthesis were unique to MD.", "output": {"entities": {"gene": [{"text": "AKAP95", "start": 0, "end": 6}], "disease": [{"text": "MD", "start": 68, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKAP95", "start": 0, "end": 6}, "tail": {"text": "MD", "start": 68, "end": 70}}]}}, "schema": []}
{"input": "PIM1 protein levels and mRNA levels were significantly upregulated in astrocytoma tissues, indicating the oncogenic role of PIM1 in astrocytoma.", "output": {"entities": {"gene": [{"text": "PIM1", "start": 0, "end": 4}], "disease": [{"text": "astrocytoma", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Thus, lower PPARγ and PON2 gene expression in the BALF of children with CF is associated specifically with P. aeruginosa infection and neutrophilia.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 12, "end": 17}], "disease": [{"text": "neutrophilia", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The C1QTNF5 gene encodes a secreted and membrane-associated protein involved in adhesion of retinal pigmented epithelial cells (RPE) to Bruch' s membrane.", "output": {"entities": {"gene": [{"text": "RPE", "start": 128, "end": 131}], "disease": [{"text": "adhesion", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Although the total protein expressions of IR-β, IRS-1, PI3K, PKB and GLUT4 in skeletal muscle were not affected, insulin-stimulated GLUT4 translocation and phosphorylation of Tyr-IR-β, Tyr612-IRS-1, p85-PI3K, Ser473-PKB, and Thr308-PKB were significantly increased by CHS supplement.", "output": {"entities": {"gene": [{"text": "p85", "start": 199, "end": 202}], "disease": [{"text": "translocation", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that SPRY4-IT1 plays a critical role in GC tumorigenesis and may represent a novel prognostic marker and potential therapeutic target in patients with GC.", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 22, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The number of positive cells per millimeter of basement membrane for both IL-13 and IL-4 mRNA was increased significantly in the bronchial mucosa of atopic asthmatics compared to normal controls (p <. 001).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 74, "end": 79}], "disease": [{"text": "atopic", "start": 149, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune thyroid diseases (AITDs), which include Hashimoto thyroiditis (HT), Graves' disease (GD) and primary idiopathic myxoedema (PIM), are recognized as multifactorial diseases.", "output": {"entities": {"gene": [{"text": "PIM", "start": 134, "end": 137}], "disease": [{"text": "thyroid diseases", "start": 11, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha changes the electrophysiological properties of myenteric neurones via cyclooxygenase metabolites and protein tyrosine phosphorylation; the cells primarily responding to the cytokine seem to be non-neuronal cells in the ganglion culture, which respond with a nuclear STAT5 translocation suggesting an action on gene transcription.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 0, "end": 9}], "disease": [{"text": "translocation", "start": 282, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "Hence, heterozygous p35 knockout mice model both cognitive endophenotypes and molecular changes reminiscent of schizophrenia.", "output": {"entities": {"gene": [{"text": "p35", "start": 20, "end": 23}], "disease": [{"text": "schizophrenia", "start": 111, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p35", "start": 20, "end": 23}, "tail": {"text": "schizophrenia", "start": 111, "end": 124}}]}}, "schema": []}
{"input": "Our finding suggests that rs2249825 of HMGB1 genetic polymorphisms are significantly associated with HT and diastolic blood pressure, and the genetic effect on HT is modulated by age.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 39, "end": 44}], "disease": [{"text": "diastolic blood pressure", "start": 108, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We report 5 cases (World Health Organization grade III) in which metaphase cytogenetics identified a derivative chromosome consisting of what appears to be the whole arms of 1q and 19p forming a der (1; 19) (q10; p10).", "output": {"entities": {"gene": [{"text": "p10", "start": 213, "end": 216}], "disease": [{"text": "arms", "start": 166, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1.", "output": {"entities": {"gene": [{"text": "ATXN7", "start": 140, "end": 145}], "disease": [{"text": "central nervous system disorders", "start": 92, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The effects of oltipraz on body weight, fat content, glucose disposal, insulin signalling, metabolic profiles and endogenous NRF2 functional status in the three groups of mice were investigated.", "output": {"entities": {"gene": [{"text": "NRF2", "start": 125, "end": 129}], "disease": [{"text": "body weight", "start": 27, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the risk of early childhood wheeze associated with early maternal smoking may be modified by TNF and GSTP1 polymorphisms.", "output": {"entities": {"gene": [{"text": "TNF", "start": 118, "end": 121}], "disease": [{"text": "smoking", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.", "output": {"entities": {"gene": [{"text": "HOXD13", "start": 21, "end": 27}], "disease": [{"text": "synpolydactyly", "start": 72, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXD13", "start": 21, "end": 27}, "tail": {"text": "synpolydactyly", "start": 72, "end": 86}}]}}, "schema": []}
{"input": "ARNTL, ARNTL2, VIP and ADCYAP1 were indicated as having influence on alcohol use or abuse.", "output": {"entities": {"gene": [{"text": "VIP", "start": 15, "end": 18}], "disease": [{"text": "alcohol use", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase and tensin homologue deleted on chromosome ten) is a tumor suppressor gene implicated in a wide variety of human cancers, including glioblastoma.", "output": {"entities": {"gene": [{"text": "tensin", "start": 22, "end": 28}], "disease": [{"text": "cancers", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Through the contribution of IL-17, some Th1-like T cells appear to mediate synovial inflammation.", "output": {"entities": {"gene": [{"text": "Th1-like", "start": 40, "end": 48}], "disease": [{"text": "inflammation", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 12, "end": 23}], "disease": [{"text": "neurodegeneration", "start": 99, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Administration of synthetic TCAP-1 into the basolateral amygdala significantly increases the acoustic startle response in low-anxiety rats and decreases the response in high-anxiety animals in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "TCAP", "start": 28, "end": 32}], "disease": [{"text": "anxiety", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 69, "end": 73}], "disease": [{"text": "Juvenile polyposis of infancy", "start": 0, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 69, "end": 73}, "tail": {"text": "Juvenile polyposis of infancy", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "Rats treated with ibuprofen after transient forebrain ischemia displayed long-lasting protection of CA1 hippocampal neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 100, "end": 103}], "disease": [{"text": "ischemia", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic analysis of von Hippel-Lindau tumor suppressor gene (VHL gene) was performed on 38 tissues of human glial tumors (ependymoma, 1; astrocytoma, 6; oligodendroglioma, 1; oligoastrocytoma, 2; anaplastic oligoastrocytoma, 3; anaplastic astrocytoma, 14; glioblastoma multiforme, 11).", "output": {"entities": {"gene": [{"text": "VHL gene", "start": 71, "end": 79}], "disease": [{"text": "oligodendroglioma", "start": 163, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "ST7-mediated suppression of tumorigenicity of prostate cancer cells is characterized by remodeling of the extracellular matrix.", "output": {"entities": {"gene": [{"text": "ST7", "start": 0, "end": 3}], "disease": [{"text": "prostate cancer", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We investigated a recently identified variant of the UCP2 gene in exon 8 as a marker for glucose and weight homeostasis.", "output": {"entities": {"gene": [{"text": "UCP2 gene", "start": 53, "end": 62}], "disease": [{"text": "weight", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Immunohistologic staining for nm23-H1 protein shows different staining patterns and percentages of stained cells in squamous cell carcinoma of the vulva.", "output": {"entities": {"gene": [{"text": "nm23-H1", "start": 30, "end": 37}], "disease": [{"text": "squamous cell carcinoma of the vulva", "start": 116, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 59, "end": 63}], "disease": [{"text": "Lethal multiple pterygium syndrome", "start": 0, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 59, "end": 63}, "tail": {"text": "Lethal multiple pterygium syndrome", "start": 0, "end": 34}}]}}, "schema": []}
{"input": "In univariate analyses, no association was seen with age, weight, body mass index, gender, or pack-years smoking; tumor grade, stage, or patient performance status; p53 or c-erbB2 immunohistochemical staining, or p53 mutations.", "output": {"entities": {"gene": [{"text": "p53", "start": 165, "end": 168}], "disease": [{"text": "body mass index", "start": 66, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Dysregulation of tensin proteins has previously been implicated in human cancers.", "output": {"entities": {"gene": [{"text": "tensin", "start": 17, "end": 23}], "disease": [{"text": "cancers", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Results of the analysis of matched sets of primary tumors and lymph node metastases were also consistent with the lack of a strong association between increased copy number of c-erbB-2 proto-oncogene and aggressiveness of tumors.", "output": {"entities": {"gene": [{"text": "c-erbB-2 proto-oncogene", "start": 176, "end": 199}], "disease": [{"text": "aggressiveness", "start": 204, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "At the 4-year follow-up, subjects in the highest FABP4 tertile at baseline exhibited higher values for body mass index, fat mass and percent body fat, as well as blood pressure, fasting glucose, total cholesterol, triglycerides, low-density lipoprotein (LDL)-cholesterol, insulin, homeostasis model assessment of insulin resistance, monocyte chemoattractant protein-1 and tumor necrosis factor-α levels (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "monocyte chemoattractant protein-1", "start": 333, "end": 367}], "disease": [{"text": "body mass index", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Numerous allelotype studies indicate that allelic deletions Including the BRCA2 locus on chromosome 13q are common in ovarian cancers in general, suggesting that somatic mutations of this gene may be involved in sporadic ovarian tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 74, "end": 79}], "disease": [{"text": "sporadic", "start": 212, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "To identify immunoglobulin variable heavy chain (VH) gene usages in Korean ankylosing spondylitis (AS) patients, expression level of VH2 genes from peripheral blood mononuclear cells (PBMCs) of 8 AS patients and 9 healthy donors was analysed by quantitative real-time PCR (Q-PCR).", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 36, "end": 47}], "disease": [{"text": "ankylosing spondylitis", "start": 75, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In the present study PCR-SSCP was used to examine the exons 4-9 of the p53 gene in paired peripheral blood leucocyte and tumour DNA in a variety of adrenal tumours, including aldosterone-producing carcinoma and adenoma (both familial and sporadic), phaeochromocytoma and incidentaloma.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 71, "end": 79}], "disease": [{"text": "sporadic", "start": 238, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of Nrf2 expression using an siRNA approach attenuated basal Nox4 expression; however, it enhanced superoxide/ROS generation under both normoxia and hyperoxia.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 13, "end": 17}], "disease": [{"text": "hyperoxia", "start": 158, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Four patients with PNH-associated marrow aplasia were transplanted with marrow from their HLA-matched, MLR-nonreactive siblings.", "output": {"entities": {"gene": [{"text": "MLR", "start": 103, "end": 106}], "disease": [{"text": "aplasia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The expression of the chondroitin sulfate proteoglycan neuron-glial antigen 2 (NG2) has been demonstrated in association with rearrangement of the mixed lineage leukemia (MLL) gene in acute leukemia, but the frequency of NG2 expression in adult acute lymphoblastic leukemia (ALL) is yet unknown.", "output": {"entities": {"gene": [{"text": "NG2", "start": 79, "end": 82}], "disease": [{"text": "acute leukemia", "start": 184, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Pre-treatment of glioblastoma cell lines with GDNF but not the alternative ligand neurturin, promoted mitogenic behaviour and conferred chemoresistance to 1, 3-bis (2-chloroethyl)-1-nitrosourea (BCNU).", "output": {"entities": {"gene": [{"text": "GDNF", "start": 46, "end": 50}], "disease": [{"text": "glioblastoma", "start": 17, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDNF", "start": 46, "end": 50}, "tail": {"text": "glioblastoma", "start": 17, "end": 29}}]}}, "schema": []}
{"input": "Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 30, "end": 40}], "disease": [{"text": "obsessive-compulsive disorder", "start": 88, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.", "output": {"entities": {"gene": [{"text": "BMPER", "start": 0, "end": 5}], "disease": [{"text": "diaphanospondylodysostosis", "start": 18, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPER", "start": 0, "end": 5}, "tail": {"text": "diaphanospondylodysostosis", "start": 18, "end": 44}}]}}, "schema": []}
{"input": "These data suggest that hypoxia increases AP-1 binding activity by enhancing Ca2 + influx via La3 +-sensitive TRP-encoded SOC channels in hPAEC.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "A better understanding of early onset MEN 1 disease is needed to formulate recommendations for early MEN 1 genetic testing.", "output": {"entities": {"gene": [{"text": "MEN 1", "start": 38, "end": 43}], "disease": [{"text": "MEN 1", "start": 101, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN 1", "start": 38, "end": 43}, "tail": {"text": "MEN 1", "start": 101, "end": 106}}]}}, "schema": []}
{"input": "Targeting Wnt5a in the skin may reduce IFN hypersensitivity and be of therapeutical value.", "output": {"entities": {"gene": [{"text": "Wnt5a", "start": 10, "end": 15}], "disease": [{"text": "hypersensitivity", "start": 43, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The SP1/SP3 and hypoxia-response element in the CA9 promoter thus may represent a novel type of enhancer capable of mounting responses to a wider range of hypoxic conditions.", "output": {"entities": {"gene": [{"text": "SP3", "start": 8, "end": 11}], "disease": [{"text": "hypoxic", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Association of a microRNA/TP53 feedback circuitry with pathogenesis and outcome of B-cell chronic lymphocytic leukemia.", "output": {"entities": {"gene": [{"text": "TP53", "start": 26, "end": 30}], "disease": [{"text": "B-cell chronic lymphocytic leukemia", "start": 83, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 26, "end": 30}, "tail": {"text": "B-cell chronic lymphocytic leukemia", "start": 83, "end": 118}}]}}, "schema": []}
{"input": "Collectively, we describe a C5a-dependent induction of apoptotic events in cells of adrenal medulla in vivo and pheochromocytoma PC12 cells in vitro.", "output": {"entities": {"gene": [{"text": "C5a", "start": 28, "end": 31}], "disease": [{"text": "pheochromocytoma", "start": 112, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The novel aim of this study was to elucidate the critical role of GAPDH and its interaction with β-amyloid in the blood of Moroccan patients with familial AD (FAD) carrying presenilin mutations and in sporadic late onset AD (LOAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 159, "end": 162}], "disease": [{"text": "sporadic", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Despite comparable insulin resistance, fasting lipids, adipokines and dietary habits, MTP GG genotype had significantly more severe beta-cell dysfunction; higher plasma Tg, FFA, intestinal and hepatic very low-density lipoprotein 1 subfractions and oxLDL responses and deeper HDL-C fall than GT/TT carriers in patients and controls.", "output": {"entities": {"gene": [{"text": "MTP", "start": 86, "end": 89}], "disease": [{"text": "insulin resistance", "start": 19, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 61, "end": 70}], "disease": [{"text": "hemophilia B", "start": 103, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 61, "end": 70}, "tail": {"text": "hemophilia B", "start": 103, "end": 115}}]}}, "schema": []}
{"input": "Transforming growth factor-beta1 (TGF-beta1) plays a critical role in promoting extracellular matrix (ECM) deposition and fibrosis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 102, "end": 105}], "disease": [{"text": "fibrosis", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Ten patients had sensorineural hearing loss (38%), two patients had conductive hearing loss (7. 7%), one patient had a mixed hearing loss (3. 8%), and two patients had an as yet undefined hearing loss (ABR had not yet been performed at the time of this study) (7. 7%).", "output": {"entities": {"gene": [{"text": "ABR", "start": 202, "end": 205}], "disease": [{"text": "mixed hearing loss", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we have found significant association between the Gly482Ser variant of the PGC-1alpha gene and reduced insulin sensitivity in obese subjects.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 90, "end": 100}], "disease": [{"text": "insulin sensitivity", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Not only did expression of CLDN1 decrease significantly in response to reduction of intracellular beta-catenin by adenovirus-mediated transfer of wild-type APC into the APC-deficient colon cancer cells, but also two putative Tcf4 binding elements in the 5' flanking region of CLDN1 were confirmed to be responsible for activating its transcription.", "output": {"entities": {"gene": [{"text": "CLDN1", "start": 27, "end": 32}], "disease": [{"text": "adenovirus", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We observed that, in contrast to E2F1 and E2F3, which sensitize to death, E2F4 plays a crucial protective role in neuronal death evoked by DNA damage, hypoxia, and global ischemic insult both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "E2F3", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The ACT allelic distribution was also similar for familial and sporadic PD, for female and male patients, and for the different clinical subtypes of PD.", "output": {"entities": {"gene": [{"text": "ACT", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the retinal-expressed gene CRX (cone-rod homeobox gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "cone-rod homeobox", "start": 45, "end": 62}], "disease": [{"text": "cone-rod dystrophy", "start": 104, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cone-rod homeobox", "start": 45, "end": 62}, "tail": {"text": "cone-rod dystrophy", "start": 104, "end": 122}}]}}, "schema": []}
{"input": "Wild type carriers of PPARG Pro12Ala (p < 0. 05), homozygous carriers of the variant allele of ADIPOQ G276T (p < 0. 001) and epsilon4 carriers of APOE (p < 0. 001) had higher total and low density lipoprotein (LDL)-cholesterol levels adjusted for age, gender, BMI and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "APOE", "start": 146, "end": 150}], "disease": [{"text": "insulin sensitivity", "start": 268, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to examine whether the NTRK2 and BDNF polymorphisms impact brain white matter connections in major depressive disorder and whether they may also have an interactive effect with environmental stress in the form of early life adversity.", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 49, "end": 54}], "disease": [{"text": "major depressive disorder", "start": 119, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTRK2", "start": 49, "end": 54}, "tail": {"text": "major depressive disorder", "start": 119, "end": 144}}]}}, "schema": []}
{"input": "FIP1L1-PDGFRA-associated MPN, a subtype of myeloid and lymphoid neoplasm, is characterized by eosinophilia and abnormalities in the PDGFRA, PDGFRB or FGFR1 gene.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 7, "end": 13}], "disease": [{"text": "abnormalities", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Thirteen of 17 elf (+/-) mutant mice developed steatosis, fibrosis, hepatic dysplasia, with HCC in two mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 92, "end": 95}], "disease": [{"text": "fibrosis", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "All of the patients were treated with perindopril (4 mg/day) and, after one and six months of therapy, their levels of plasma fibrinogen (Fb), t-PA antigen, PAI-1 antigen, von Willebrand factor (vWF), ACE activity and blood pressure were measured.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 172, "end": 193}], "disease": [{"text": "blood pressure", "start": 218, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "In Trypanosoma evansi infections changes in the haemogram are commonly observed, and the enzyme adenosine deaminase (ADA) plays an important role in the production and differentiation of blood cells.", "output": {"entities": {"gene": [{"text": "ADA", "start": 117, "end": 120}], "disease": [{"text": "infections", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.", "output": {"entities": {"gene": [{"text": "FKBP10", "start": 13, "end": 19}], "disease": [{"text": "Bruck syndrome", "start": 37, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKBP10", "start": 13, "end": 19}, "tail": {"text": "Bruck syndrome", "start": 37, "end": 51}}]}}, "schema": []}
{"input": "The exon 3-deleted patients required approximately 20% lower doses of pegvisomant per kilogram of weight (28 +/-11 compared to 22 +/-7 mg per kg of weight; P = 0. 033) to normalize IGF-I.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 181, "end": 186}], "disease": [{"text": "weight", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Therefore, it is of clinical interest to investigate whether AS against Glut5 mRNA can tackle breast cancer.", "output": {"entities": {"gene": [{"text": "Glut5", "start": 72, "end": 77}], "disease": [{"text": "breast cancer", "start": 94, "end": 107}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Glut5", "start": 72, "end": 77}, "tail": {"text": "breast cancer", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Finally, the expression of colon cancer-derived beta-globin mRNA was detectable 24 h after intravenous injection, but only in samples obtained from the HT-29DEX-, but not in those from the HT-29-inoculated mice.", "output": {"entities": {"gene": [{"text": "beta-globin", "start": 48, "end": 59}], "disease": [{"text": "colon cancer", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, there were no chi, chi-like, topoisomerase II, or translin consensus sequences in the introns harboring the translocation breakpoints, nor could the number of topo I sites in EWS, RBP56, and CHN introns explain the uneven distribution of the breakpoints among EWS or CHN introns.", "output": {"entities": {"gene": [{"text": "EWS", "start": 188, "end": 191}], "disease": [{"text": "translocation", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "This analysis supports a dominant-negative mechanism for GS variants in ITPR1.", "output": {"entities": {"gene": [{"text": "ITPR1", "start": 72, "end": 77}], "disease": [{"text": "GS", "start": 57, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITPR1", "start": 72, "end": 77}, "tail": {"text": "GS", "start": 57, "end": 59}}]}}, "schema": []}
{"input": "CSE1L, DIDO1 and RBM39 in colorectal adenoma to carcinoma progression.", "output": {"entities": {"gene": [{"text": "DIDO1", "start": 7, "end": 12}], "disease": [{"text": "carcinoma", "start": 48, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Since 2002, mutations in the SALL4 locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition.", "output": {"entities": {"gene": [{"text": "SALL4", "start": 29, "end": 34}], "disease": [{"text": "IVIC syndrome", "start": 116, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SALL4", "start": 29, "end": 34}, "tail": {"text": "IVIC syndrome", "start": 116, "end": 129}}]}}, "schema": []}
{"input": "In addition to sporadic forms of AD, familial forms (FAD) have been recognized.", "output": {"entities": {"gene": [{"text": "FAD", "start": 53, "end": 56}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The association with the HLA-DRB1 gene is the best understood, although several non-HLA loci have been linked to RA, including the 18q21 region of the TNFRSR11A gene, which encodes the receptor activator of nuclear factor kappaB, important in bone resorption in RA.", "output": {"entities": {"gene": [{"text": "HLA-DRB1 gene", "start": 25, "end": 38}], "disease": [{"text": "bone resorption", "start": 243, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Weak association of the platelet-derived growth factor beta (PDGFB) and PDGF receptor beta (PDGFRB) genes with schizophrenia and schizoaffective disorder.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 61, "end": 66}], "disease": [{"text": "schizoaffective disorder", "start": 129, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "This case-control study was designed to investigate the association of alpha1-antichymotrypsin gene (ACT) polymorphism between 210 Taiwanese patients with clinical definite sporadic PD and 260 controls, matched by age and sex.", "output": {"entities": {"gene": [{"text": "ACT", "start": 101, "end": 104}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "To assess olfactory dysfunction in PINK1-related Parkinsonism, we evaluated olfactory detection threshold, odor discrimination, and odor identification in five groups of subjects: sporadic PD (n = 19), PINK1 homozygous (n = 7), and heterozygous (n = 6) parkinsonian patients, asymptomatic PINK1 heterozygous carriers (n = 12), and Italian healthy subjects (n = 67).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 35, "end": 40}], "disease": [{"text": "sporadic", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "In the border zone and scar region of infarcted myocardium, and in hypoxic neonatal cardiomyocytes, the selective degradation of PLC-delta1 by the calcium sensitive proteases may play important roles in intracellular Ca2 + regulations under the ischemic conditions.", "output": {"entities": {"gene": [{"text": "PLC", "start": 129, "end": 132}], "disease": [{"text": "scar", "start": 23, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The presence of mutations in this racial population suggests worldwide, common involvement of the SQSTM1 gene in ALS.", "output": {"entities": {"gene": [{"text": "SQSTM1", "start": 98, "end": 104}], "disease": [{"text": "ALS", "start": 113, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SQSTM1", "start": 98, "end": 104}, "tail": {"text": "ALS", "start": 113, "end": 116}}]}}, "schema": []}
{"input": "Genetic mappings uncovered numerous shared genes among substance use, stress response, obesity and hemodynamic traits, including CAMK4, CNTN4, DLG2, FHIT, GRID2, ITPR2, NOVA1 and PRKCE, forming network of interacting proteins, sharing synaptic function and display higher and patterned expression profiles in brain-related tissues; moreover, pathway analysis of shared genes pointed to long-term potentiation.", "output": {"entities": {"gene": [{"text": "DLG2", "start": 143, "end": 147}], "disease": [{"text": "obesity", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "New studies have revealed an essential role for TRPA1, a sensory neuronal TRP ion channel, in airway chemosensation and inflammation.", "output": {"entities": {"gene": [{"text": "TRP", "start": 48, "end": 51}], "disease": [{"text": "inflammation", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Of 40 cases of hairy cell leukemia, 38 had mutated IGHV and/or IGK/LV, with variations in 13/13 cloned cases, while two had 100% unmutated IGHV and IGK/LV.", "output": {"entities": {"gene": [{"text": "IGK", "start": 63, "end": 66}], "disease": [{"text": "hairy cell leukemia", "start": 15, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to evaluate single-nucleotide polymorphisms (SNPs) of the RANKL, RANK, and OPG genes in premenopausal SLE patients and their association with sRANKL and OPG serum levels, vertebral fractures, and bone mineral density (BMD).", "output": {"entities": {"gene": [{"text": "RANKL", "start": 88, "end": 93}], "disease": [{"text": "bone mineral density", "start": 226, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "TRMT12 is a homologue of a yeast gene encoding a tRNA methyltransferase involved in the posttranscriptional modification of tRNA (Phe), and exploring the biological consequence of its altered expression, may reveal novel pathways in tumorigenesis.", "output": {"entities": {"gene": [{"text": "TRMT12", "start": 0, "end": 6}], "disease": [{"text": "tumorigenesis", "start": 233, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "A significant positive correlation between the serum non-ceruloplasmin copper and lipid peroxidation products and negative correlation with antioxidants were observed in hepatocellular carcinoma patients.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 57, "end": 70}], "disease": [{"text": "hepatocellular carcinoma", "start": 170, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 57, "end": 70}, "tail": {"text": "hepatocellular carcinoma", "start": 170, "end": 194}}]}}, "schema": []}
{"input": "In the present study, we investigated the baseline activity of the PI3K/Akt/mTOR pathway TORC1/2 in MM cell lines with different genetic abnormalities.", "output": {"entities": {"gene": [{"text": "TORC1", "start": 89, "end": 94}], "disease": [{"text": "abnormalities", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "To examine the associations of functional GSTM3 gene polymorphisms (Val224Ile and insdelAGG), their haplotypes and, in combination with GSTT1-null and GSTM1-null polymorphisms, with bone mineral density (BMD) measured at femoral neck (_fn), lumbar spine (_ls) and total hip (_th) and biochemical bone turnover markers in 593 Slovenian elderly women and 119 Slovenian elderly men.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 151, "end": 156}], "disease": [{"text": "bone mineral density", "start": 182, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "LIT1 and H19 methylation defects in isolated hemihyperplasia.", "output": {"entities": {"gene": [{"text": "LIT1", "start": 0, "end": 4}], "disease": [{"text": "hemihyperplasia", "start": 45, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LIT1", "start": 0, "end": 4}, "tail": {"text": "hemihyperplasia", "start": 45, "end": 60}}]}}, "schema": []}
{"input": "The increase of PTPα catalytic activity requires its phosphorylation at Ser180 and/or Ser204 and its dissociation from PTPα/Grb2 complex.", "output": {"entities": {"gene": [{"text": "Grb2", "start": 124, "end": 128}], "disease": [{"text": "dissociation", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The most remarkable risk was seen for the small cell carcinoma among subjects with the GSTP1 * B/* B genotype and concurrent lack of the GSTM1 gene (OR = 6. 9, 95% CI 1. 6-30. 2).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 87, "end": 92}], "disease": [{"text": "small cell carcinoma", "start": 42, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Sandhoff disease is caused by abnormalities in HEXB gene encoding the beta-subunit of beta-hexosaminidase.", "output": {"entities": {"gene": [{"text": "HEXB gene", "start": 47, "end": 56}], "disease": [{"text": "abnormalities", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Hepatic PGC-1beta overexpression caused combined hyperlipidemia independent of SREBP-1c activation.", "output": {"entities": {"gene": [{"text": "PGC", "start": 8, "end": 11}], "disease": [{"text": "hyperlipidemia", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: Substance P (SP) is a pleiotropic cytokine/neuropeptide that enhances breast cancer (BC) aggressiveness by transactivating tyrosine kinase receptors like EGFR and HER2.", "output": {"entities": {"gene": [{"text": "HER2", "start": 175, "end": 179}], "disease": [{"text": "aggressiveness", "start": 101, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Hereditary cerebral hemorrhage with amyloidosis-Dutch type is an autosomal dominant hereditary disease caused by a point mutation in the amyloid precursor protein gene on chromosome 21.", "output": {"entities": {"gene": [{"text": "amyloid precursor protein", "start": 137, "end": 162}], "disease": [{"text": "Hereditary cerebral hemorrhage with amyloidosis-Dutch type", "start": 0, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "amyloid precursor protein", "start": 137, "end": 162}, "tail": {"text": "Hereditary cerebral hemorrhage with amyloidosis-Dutch type", "start": 0, "end": 58}}]}}, "schema": []}
{"input": "There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life.", "output": {"entities": {"gene": [{"text": "MRI", "start": 57, "end": 60}], "disease": [{"text": "epilepsy", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia induced aggressiveness of prostate cancer cells is linked with deregulated expression of VEGF, IL-6 and miRNAs that are attenuated by CDF.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 103, "end": 107}], "disease": [{"text": "aggressiveness", "start": 16, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The subject (Patient A) with no detected NR2E3 mutation had features not usually associated with ESCS, in particular moderate rod photoreceptor function in peripheral retina and an abnormally thick retinal nerve fibre layer.", "output": {"entities": {"gene": [{"text": "NR2E3", "start": 41, "end": 46}], "disease": [{"text": "ESCS", "start": 97, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR2E3", "start": 41, "end": 46}, "tail": {"text": "ESCS", "start": 97, "end": 101}}]}}, "schema": []}
{"input": "Allelic variant frequency of the identified IGF1 polymorphisms was assessed in a total of 145 SGA children and in 180 controls born with adequate weight and length and adult height sd score greater than-2.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 44, "end": 48}], "disease": [{"text": "weight", "start": 146, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We used transgenic mice that overexpressed a constitutively activated form of YAP (YAP (S127A)), and measured protein levels in HCC, colorectal and pancreatic tumor samples from patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 128, "end": 131}], "disease": [{"text": "pancreatic tumor", "start": 148, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.", "output": {"entities": {"gene": [{"text": "ORC1", "start": 13, "end": 17}], "disease": [{"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORC1", "start": 13, "end": 17}, "tail": {"text": "Meier-Gorlin syndrome", "start": 122, "end": 143}}]}}, "schema": []}
{"input": "Mutations in the human cardiac troponin T gene (TNNT2) are associated with familial hypertrophic cardiomyopathy (FHC) linked to chromosome 1q3 (CMH2).", "output": {"entities": {"gene": [{"text": "T gene", "start": 40, "end": 46}], "disease": [{"text": "familial hypertrophic cardiomyopathy", "start": 75, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption.", "output": {"entities": {"gene": [{"text": "TCIRG1 gene", "start": 17, "end": 28}], "disease": [{"text": "bone resorption", "start": 265, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "Congenital aniridia is due to deletions and point mutations in the PAX6 gene.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 67, "end": 71}], "disease": [{"text": "Congenital aniridia", "start": 0, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 67, "end": 71}, "tail": {"text": "Congenital aniridia", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "Haploinsufficiency of one of them, RAI1, seems to be responsible for the neurobehavioural, craniofacial and otolaryngological features of the syndrome, but not for short stature, commonly seen in SMS patients with chromosome deletion, implying the role of other genes in the 17p11. 2 region.", "output": {"entities": {"gene": [{"text": "RAI1", "start": 35, "end": 39}], "disease": [{"text": "chromosome deletion", "start": 214, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Phosphodiesterase-4 (PDE4), an enzyme that catalyzes the hydrolysis of cyclic AMP and plays a critical role in controlling its intracellular concentration, has been implicated in depression-and anxiety-like behaviors.", "output": {"entities": {"gene": [{"text": "AMP", "start": 78, "end": 81}], "disease": [{"text": "depression", "start": 179, "end": 189}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 78, "end": 81}, "tail": {"text": "depression", "start": 179, "end": 189}}]}}, "schema": []}
{"input": "We evaluated the GFI1B expression in erythroleukaemia and megakaryocytic leukaemia, as well as in patients with other subtypes of acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL), chronic myeloid leukaemia (CML), myelodysplastic syndrome (MDS), severe aplastic anaemia (SAA), myelofibrosis with myeloid metaplasia (MMM) and in healthy volunteers.", "output": {"entities": {"gene": [{"text": "SAA", "start": 288, "end": 291}], "disease": [{"text": "aplastic anaemia", "start": 270, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "In 8-Br-cAMP-treated hESF from eutopic endometrium of women with endometriosis, the balance in estradiol (E2) and P4 biosynthetic and metabolizing enzymes is disturbed (decreased HSD3B1 and HSD17B2, and increased HSD17B1 and aromatase), with the equilibrium being shifted towards an E2-enriched milieu.", "output": {"entities": {"gene": [{"text": "HSD17B2", "start": 190, "end": 197}], "disease": [{"text": "endometriosis", "start": 65, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSD17B2", "start": 190, "end": 197}, "tail": {"text": "endometriosis", "start": 65, "end": 78}}]}}, "schema": []}
{"input": "The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 62, "end": 66}], "disease": [{"text": "CCHS", "start": 100, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BDNF", "start": 62, "end": 66}, "tail": {"text": "CCHS", "start": 100, "end": 104}}]}}, "schema": []}
{"input": "Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.", "output": {"entities": {"gene": [{"text": "FBLN4", "start": 82, "end": 87}], "disease": [{"text": "prostate cancer", "start": 103, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBLN4", "start": 82, "end": 87}, "tail": {"text": "prostate cancer", "start": 103, "end": 118}}]}}, "schema": []}
{"input": "In age-and gender-adjusted regression models, MMP-9 concentrations were positively associated with the homeostasis model assessment of insulin resistance (HOMA-IR) index and triglyceride concentrations, fasting serum insulin, fasting plasma glucose, C-reactive protein, fibrinogen, and serum amyloid A.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 250, "end": 268}], "disease": [{"text": "insulin resistance", "start": 135, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Current concepts of the immunopathogenesis of sarcoidosis favor a central role of activated, interleukin-2 (IL-2) producing helper T-cells at sites of inflammation.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 108, "end": 112}], "disease": [{"text": "inflammation", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Five polymorphisms forming two haplotype blocks within the GTP cyclohydrolase 1 gene, encoding a rate limiting enzyme in tetrahydrobiopterin synthesis, were studied in the context of flow and nitroglycerin mediated dilation (FMD and NMD), intima-media thickness (IMT), and plasma concentrations of von Willebrand factor (vWF) and malondialdehyde (MDA).", "output": {"entities": {"gene": [{"text": "GTP cyclohydrolase 1", "start": 59, "end": 79}], "disease": [{"text": "dilation", "start": 215, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "The results of our study unravel the significance of Wnt/Ca2 + signaling in cervical cancer.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 57, "end": 60}], "disease": [{"text": "cervical cancer", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "CDNA expression array analysis revealed increased manganese superoxide dismutase (SOD-2) expression in the mac25/IGFBP-rP1-transfected M12 human prostate cancer cell line compared to M12 control cells.", "output": {"entities": {"gene": [{"text": "mac25", "start": 107, "end": 112}], "disease": [{"text": "prostate cancer", "start": 145, "end": 160}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "mac25", "start": 107, "end": 112}, "tail": {"text": "prostate cancer", "start": 145, "end": 160}}]}}, "schema": []}
{"input": "Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.", "output": {"entities": {"gene": [{"text": "follitropin receptor", "start": 81, "end": 101}], "disease": [{"text": "ovarian hyperstimulation syndrome", "start": 130, "end": 163}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "follitropin receptor", "start": 81, "end": 101}, "tail": {"text": "ovarian hyperstimulation syndrome", "start": 130, "end": 163}}]}}, "schema": []}
{"input": "We evaluated a strategy for anti-TGF-beta gene therapy for hepatic fibrosis by transfecting plasmids expressing an entire extracellular domain of human TGF-beta type II [soluble type II TGF-beta receptor (sTGF-betaIIR)] into skeletal muscle in a rat experimental model of dimethylnitrosamine-(DMN-) induced fibrosis.", "output": {"entities": {"gene": [{"text": "DMN", "start": 293, "end": 296}], "disease": [{"text": "fibrosis", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Subsequent real-time PCR assays confirmed 16 of these targets, and 9 of these genes (ARHGAP29, CDC25A, CDKN2AIP, CX3CL1, ELF4, GNAL, KDELR1, POU4F2, and THRA) have a known role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "ARHGAP29", "start": 85, "end": 93}], "disease": [{"text": "tumorigenesis", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor receptor-2", "start": 34, "end": 79}], "disease": [{"text": "major depression", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vascular endothelial growth factor receptor-2", "start": 34, "end": 79}, "tail": {"text": "major depression", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "Collectively, these observations argue that ADI1 may check prostate cancer progression through apoptosis and that this activity does not require metal binding.", "output": {"entities": {"gene": [{"text": "ADI1", "start": 44, "end": 48}], "disease": [{"text": "prostate cancer", "start": 59, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADI1", "start": 44, "end": 48}, "tail": {"text": "prostate cancer", "start": 59, "end": 74}}]}}, "schema": []}
{"input": "In contrast, the metabolic benefit of STS in males may have been accounted for by the male-specific decrease of inflammation in white adipose tissue and skeletal muscle as well as a pattern of skeletal muscle gene expression that favors energy expenditure.", "output": {"entities": {"gene": [{"text": "STS", "start": 38, "end": 41}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STS", "start": 38, "end": 41}, "tail": {"text": "inflammation", "start": 112, "end": 124}}]}}, "schema": []}
{"input": "p42. 3 gene expression in gastric cancer cell and its protein regulatory network analysis.", "output": {"entities": {"gene": [{"text": "p42. 3", "start": 0, "end": 6}], "disease": [{"text": "gastric cancer", "start": 26, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 58, "end": 64}], "disease": [{"text": "Juvenile polyposis of infancy", "start": 0, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1A", "start": 58, "end": 64}, "tail": {"text": "Juvenile polyposis of infancy", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "The GRL locus does not appear to be a major locus for obesity, but we cannot exclude that this gene or gene located nearby may have some minor effects on the obese phenotype or may be involved in some subtypes of obesity.", "output": {"entities": {"gene": [{"text": "GRL", "start": 4, "end": 7}], "disease": [{"text": "obesity", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Sixty consecutive non-smoking patients (aged 46. 77 +/-4. 96 years) with moderate to severe chronic periodontitis (CP) were treated with scaling and root planing (SRP).", "output": {"entities": {"gene": [{"text": "SRP", "start": 163, "end": 166}], "disease": [{"text": "smoking", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that the replication and cytopathogenicity of an E1B, 55-kDa gene-attenuated adenovirus, ONYX-015, is blocked by functional p53 in RKO and U20S carcinoma lines.", "output": {"entities": {"gene": [{"text": "E1B", "start": 74, "end": 77}], "disease": [{"text": "carcinoma", "start": 169, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that TAC1, PENK and SOCS2 might be intimately connected with the excessive daytime sleepiness not only in dogs, but also in other species, possibly including humans.", "output": {"entities": {"gene": [{"text": "PENK", "start": 33, "end": 37}], "disease": [{"text": "excessive daytime sleepiness", "start": 87, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Family history of ESRD is common in older Americans and the increased risk of ESRD associated with a family history reflects lower GFR, higher albuminuria, and comorbid conditions.", "output": {"entities": {"gene": [{"text": "GFR", "start": 131, "end": 134}], "disease": [{"text": "albuminuria", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The morphological features of tumours from patients harbouring mutations in the BRCA1 and BRCA2 genes differ from each other and from sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 90, "end": 101}], "disease": [{"text": "sporadic", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Moreover, silencing of CUX1 in fibroblasts from kidneys of patients with renal fibrosis resulted in increased type I collagen expression.", "output": {"entities": {"gene": [{"text": "CUX1", "start": 23, "end": 27}], "disease": [{"text": "renal fibrosis", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "SMAC knockdown led to impaired caspase activation, mitochondrial membrane depolarization, and release of cytochrome c. A small molecule Smac mimetic, at nanomolar concentrations, significantly sensitized HNSCC cells to gemcitabine-induced apoptosis and restored gemcitabine sensitivity in SMAC knockdown cells, through caspase activation, X-linked IAP dissociation, and mitochondria-associated events, but not the TNF-α pathway.", "output": {"entities": {"gene": [{"text": "SMAC", "start": 0, "end": 4}], "disease": [{"text": "dissociation", "start": 352, "end": 364}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the relationship between mRNA gene expressions of TMPRSS4, ECM1 and VDR in 21 papillary thyroid carcinoma samples and compared it to 21 normal thyroid tissues from the same patients.", "output": {"entities": {"gene": [{"text": "ECM1", "start": 72, "end": 76}], "disease": [{"text": "papillary thyroid carcinoma", "start": 91, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of FLG mutations with self-reported food allergy, symptoms of oral allergy syndrome (OAS), and alcohol sensitivity.", "output": {"entities": {"gene": [{"text": "FLG", "start": 35, "end": 38}], "disease": [{"text": "food allergy", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Dysbindin-1, a schizophrenia-related protein, interacts with HDAC3.", "output": {"entities": {"gene": [{"text": "HDAC3", "start": 61, "end": 66}], "disease": [{"text": "schizophrenia", "start": 15, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC3", "start": 61, "end": 66}, "tail": {"text": "schizophrenia", "start": 15, "end": 28}}]}}, "schema": []}
{"input": "Individuals with the BCHE UF phenotype (N = 45) showed a significantly higher mean stature (about 3 cm more; P = 0. 02) than their controls with the usual phenotype (N = 135).", "output": {"entities": {"gene": [{"text": "BCHE", "start": 21, "end": 25}], "disease": [{"text": "stature", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.", "output": {"entities": {"gene": [{"text": "PCDH9", "start": 153, "end": 158}], "disease": [{"text": "ASD", "start": 236, "end": 239}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PCDH9", "start": 153, "end": 158}, "tail": {"text": "ASD", "start": 236, "end": 239}}]}}, "schema": []}
{"input": "Identification of ATF-3, caveolin-1, DLC-1, and NM23-H2 as putative antitumorigenic, progesterone-regulated genes for ovarian cancer cells by gene profiling.", "output": {"entities": {"gene": [{"text": "ATF-3", "start": 18, "end": 23}], "disease": [{"text": "ovarian cancer", "start": 118, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ATF-3", "start": 18, "end": 23}, "tail": {"text": "ovarian cancer", "start": 118, "end": 132}}]}}, "schema": []}
{"input": "DYNACTIN-2 (DCTN2) localises to chromosome 12q13-q15, a region prone to stable amplification in several cancers.", "output": {"entities": {"gene": [{"text": "DCTN2", "start": 12, "end": 17}], "disease": [{"text": "cancers", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In addition, the evaluation of IGF-1 and IGF-1rec immunoreactivity might have clinical implications, because it positively correlates with the aggressiveness of these tumors.", "output": {"entities": {"gene": [{"text": "IGF", "start": 31, "end": 34}], "disease": [{"text": "aggressiveness", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Unlike other DNA repair defects that affect humans, PNKP mutations universally cause severe seizures.", "output": {"entities": {"gene": [{"text": "PNKP", "start": 52, "end": 56}], "disease": [{"text": "seizures", "start": 92, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PNKP", "start": 52, "end": 56}, "tail": {"text": "seizures", "start": 92, "end": 100}}]}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "Because DGAT1 expression is up-regulated during adipocyte differentiation and DGAT1 deficiency is associated with leanness in mice, we hypothesized that alterations in DGAT1 expression may affect human body weight.", "output": {"entities": {"gene": [{"text": "DGAT1", "start": 8, "end": 13}], "disease": [{"text": "body weight", "start": 202, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "We examined CD4 + and CD8 + subgroups of T cells in the peripheral blood (PBL), benign gastric mucosa, and tumor (TIL) lymphocytes of 12 patients with primary gastric carcinomas of both intestinal and diffuse types.", "output": {"entities": {"gene": [{"text": "CD4", "start": 12, "end": 15}], "disease": [{"text": "carcinomas", "start": 167, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "They were matched and randomly assigned into four groups: type II diabetic patients with no sign of CAD (T2DM), type II diabetic patients with CAD/ND (T2DM/CAD), CAD patients with no sign of diabetes (CAD/ND), and healthy individuals (NCAD/ND).", "output": {"entities": {"gene": [{"text": "NCAD", "start": 235, "end": 239}], "disease": [{"text": "diabetes", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "We observed that the expression of amphiregulin, betacellulin and epiregulin was significantly increased in young EPP mice when compared to aged-matched controls in all genetic backgrounds.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 35, "end": 47}], "disease": [{"text": "EPP", "start": 114, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "amphiregulin", "start": 35, "end": 47}, "tail": {"text": "EPP", "start": 114, "end": 117}}]}}, "schema": []}
{"input": "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.", "output": {"entities": {"gene": [{"text": "RSPH1", "start": 30, "end": 35}], "disease": [{"text": "primary ciliary dyskinesia", "start": 42, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RSPH1", "start": 30, "end": 35}, "tail": {"text": "primary ciliary dyskinesia", "start": 42, "end": 68}}]}}, "schema": []}
{"input": "In this report, we showed that the expression of Janus-activated kinase 2 (JAK2), a Stat3 activator, was increased, whereas the expression of a negative regulator of Stat3, suppressor of cytokine signaling-1 (SOCS-1), was reduced in the brain metastatic melanoma cell line A375Br, relative to that in the parental A375P cell line.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 75, "end": 79}], "disease": [{"text": "metastatic melanoma", "start": 243, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Stress and heat shock proteins such as HSP90, HSP70 and HSP27 are induced in response to a wide variety of physiological environmental insults including heat, reactive oxygen species or anticancer drugs.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 46, "end": 51}], "disease": [{"text": "shock", "start": 16, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have indicated that the hyperlipidemia and gene expression changes induced by a short-term high-fat diet (HFD) are mediated through the peroxisome proliferator-activated receptor gamma coactivator (PGC)-1beta, and that in vitro both PGC-1beta and PGC-1alpha increase PPARalpha-mediated transcriptional activities.", "output": {"entities": {"gene": [{"text": "PGC", "start": 215, "end": 218}], "disease": [{"text": "hyperlipidemia", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "To understand the role of sporadic mutations in the tumor suppressor gene p53 (also known as TP53) in the pathogenesis of breast cancer, it is important to identify at which histologic stage such mutations first occur.", "output": {"entities": {"gene": [{"text": "TP53", "start": 93, "end": 97}], "disease": [{"text": "sporadic", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Since epidemiologic studies closely link prolactin and the development of ERα + tumors in women, we examined characteristics of the aggressive ERα + and ERα-carcinomas which develop in response to mammary prolactin in a murine transgenic model (neu-related lipocalin-prolactin (NRL-PRL)).", "output": {"entities": {"gene": [{"text": "NRL", "start": 278, "end": 281}], "disease": [{"text": "carcinomas", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Primary ALS deficiency due to IGFALS mutations should be considered as a possible cause of postnatal growth deficit in IGF-I-deficient patients in the absence of GH deficiency or insensitivity.", "output": {"entities": {"gene": [{"text": "IGFALS", "start": 30, "end": 36}], "disease": [{"text": "ALS deficiency", "start": 8, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGFALS", "start": 30, "end": 36}, "tail": {"text": "ALS deficiency", "start": 8, "end": 22}}]}}, "schema": []}
{"input": "Inherited autosomal dominant mutations in the ARMC5 gene are a frequent cause of PMAH.", "output": {"entities": {"gene": [{"text": "ARMC5", "start": 46, "end": 51}], "disease": [{"text": "PMAH", "start": 81, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARMC5", "start": 46, "end": 51}, "tail": {"text": "PMAH", "start": 81, "end": 85}}]}}, "schema": []}
{"input": "We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed by comprehensive nucleotide sequencing of the ARSA gene to detect rare or private mutations.", "output": {"entities": {"gene": [{"text": "ARSA", "start": 215, "end": 219}], "disease": [{"text": "MLD", "start": 37, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARSA", "start": 215, "end": 219}, "tail": {"text": "MLD", "start": 37, "end": 40}}]}}, "schema": []}
{"input": "A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 2, "end": 8}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 70, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 2, "end": 8}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 70, "end": 100}}]}}, "schema": []}
{"input": "In the present study, 54 patients presented liver mild fibrosis, 68 had severe fibrosis and 51 patients had HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 108, "end": 111}], "disease": [{"text": "fibrosis", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "HIF-1alpha was not expressed in benign breast tissue, whereas it was significantly expressed in DH, ADH, DCIS, and IDC (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 0, "end": 10}], "disease": [{"text": "DCIS", "start": 105, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1alpha", "start": 0, "end": 10}, "tail": {"text": "DCIS", "start": 105, "end": 109}}]}}, "schema": []}
{"input": "RNA interference and TRAIL receptor blockage experiments revealed that in bortezomib-treated hepatoma cells TRAIL-R1/TRAIL-R2 up-regulation, enhanced TRAIL DISC formation and cFLIPL down-regulation in addition to accumulation of Bak cooperatively sensitized for TRAIL.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 21, "end": 26}], "disease": [{"text": "hepatoma", "start": 93, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRAIL", "start": 21, "end": 26}, "tail": {"text": "hepatoma", "start": 93, "end": 101}}]}}, "schema": []}
{"input": "A total 90 patients (67 HCC, 9 cirrhosis and 14 chronic hepatitis) were enrolled in the study.", "output": {"entities": {"gene": [{"text": "HCC", "start": 24, "end": 27}], "disease": [{"text": "chronic hepatitis", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In contrast, several population doublings after exposure to a low dose of only 0. 5 Gy chromosomal instability, manifested as gross chromosomal rearrangements and aneuploidy, had developed in BRCA2-deficient FA fibroblasts and in some-but not all-BRCA heterozygous fibroblasts.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 192, "end": 197}], "disease": [{"text": "chromosomal instability", "start": 87, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We found that the disruption of one allele of Smyd4 (SET and MYND domain containing 4) gene through chromosome translocation led to tumorigenesis.", "output": {"entities": {"gene": [{"text": "SET and MYND domain containing 4", "start": 53, "end": 85}], "disease": [{"text": "chromosome translocation", "start": 100, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control study with 183 silicosis patients and 111 silica-exposed miners, and a 1: 2 matched case-control study of 61 PTB cases and 122 PTB-free miners.", "output": {"entities": {"gene": [{"text": "PTB", "start": 137, "end": 140}], "disease": [{"text": "silicosis", "start": 43, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "APPcc overexpression in CA1 and not in the dentate gyrus induced endogenous SET translocation and tau hyperphosphorylation.", "output": {"entities": {"gene": [{"text": "CA1", "start": 24, "end": 27}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "FNDC3B was also associated with primary open-angle glaucoma (P = 5. 6 & #215; 10 (-4); tested in 3 cohorts with 2, 979 cases and 7, 399 controls).", "output": {"entities": {"gene": [{"text": "FNDC3B", "start": 0, "end": 6}], "disease": [{"text": "primary open-angle glaucoma", "start": 32, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FNDC3B", "start": 0, "end": 6}, "tail": {"text": "primary open-angle glaucoma", "start": 32, "end": 59}}]}}, "schema": []}
{"input": "Isolated BMACs from TSP-1-knockout mice demonstrated improved tube formation, migration, and adhesion in parallel with active SHH signaling.", "output": {"entities": {"gene": [{"text": "SHH", "start": 126, "end": 129}], "disease": [{"text": "adhesion", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Treatment of GSC-derived mouse intracranial tumors reduced tumor sizes in vivo without a noticeable cell death in normal brains.", "output": {"entities": {"gene": [{"text": "GSC", "start": 13, "end": 16}], "disease": [{"text": "intracranial tumors", "start": 31, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Patients with lung cancer (n = 263) were studied to determine the relationship among ectopic production of atrial natriuretic factors (ANF) and arginine vasopressin (AVP), serum sodium, and patient outcome.", "output": {"entities": {"gene": [{"text": "ANF", "start": 135, "end": 138}], "disease": [{"text": "lung cancer", "start": 14, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The study also suggests TP53 as a potential molecular marker and prognostic tool, at least in a subset of sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "TP53", "start": 24, "end": 28}], "disease": [{"text": "sporadic", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Treatment significantly improved the clonogenic potential of bone marrow erythroid, myeloid, megakaryocytic colony-forming cells and increased the proportion of CD34 (+) cells expressing the adhesion molecules CD11a, CD49d, CD54, CXCR4 and the SLAM antigen CD48.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 210, "end": 215}], "disease": [{"text": "adhesion", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Immunohistologic detection of nm23-H1 protein in squamous cell carcinoma of the vulva.", "output": {"entities": {"gene": [{"text": "nm23-H1", "start": 30, "end": 37}], "disease": [{"text": "squamous cell carcinoma of the vulva", "start": 49, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR) signalling pathways via p53, the protein Regulated in the Development and DNA damage response 1 (Redd1) and the tuberous sclerosis complex (TSC2) factors in two beta-amyloid peptide (Abeta) neurotoxicity models.", "output": {"entities": {"gene": [{"text": "Redd1", "start": 275, "end": 280}], "disease": [{"text": "amyloid", "start": 344, "end": 351}]}, "relations": {}}, "schema": []}
{"input": "We investigated a common signal peptide polymorphism in the alpha 1-antichymotrypsin (ACT) gene in 125 sporadic Alzheimer disease (AD) patients and 141 healthy control subjects in Chinese Han population.", "output": {"entities": {"gene": [{"text": "ACT", "start": 86, "end": 89}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "sRAGE (assessed by ELISA) was significantly higher in DN than normoalbuminuria subjects (P = 0. 007) and positively correlated with age, S-urea, S-creatinine and albuminuria and AGEs (determined spectrofluorimetrically), negatively with GFR (all P < 0. 05); however, multivariate regression revealed that GFR was the only independent variable associated with sRAGE (P = 0. 047).", "output": {"entities": {"gene": [{"text": "GFR", "start": 237, "end": 240}], "disease": [{"text": "albuminuria", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The GSTA1 homozygous wild-type genotype was significantly more often present in patients with gastric cancer compared with controls (odds ratio 4. 3, 95% CI 1. 2-17), which was even more apparent after adjustment for age, gender, current smoking, current alcohol consumption, and polymorphisms in GSTP1, GSTT1, or GSTM1 (odds ratio 5. 0, 95% CI 1. 2-25).", "output": {"entities": {"gene": [{"text": "GSTA1", "start": 4, "end": 9}], "disease": [{"text": "alcohol consumption", "start": 255, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "A 1: 2 case control study of 61 male workers with PTB (50 silicosis patients and 11 unsilicosis workers) as the case group and 122 male PTB-free workers (100 silicosis patients and 22 unsilicosis workers) as the control group was conducted with the frequency matched for age of +/-5 years, the job, the silica exposure, and the condition of cigarette smoking and alcohol drinking.", "output": {"entities": {"gene": [{"text": "PTB", "start": 50, "end": 53}], "disease": [{"text": "silicosis", "start": 58, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In a patient hypophysectomized because of a pituitary tumor, who, despite undetectable serum gonadotropin levels, had normal testis volume and semen parameters and fathered three children under testosterone substitution alone, we hypothesized an activating mutation of the FSH receptor.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 273, "end": 285}], "disease": [{"text": "pituitary tumor", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.", "output": {"entities": {"gene": [{"text": "MKP1", "start": 56, "end": 60}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKP1", "start": 56, "end": 60}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "Mean BDNF concentration was decreased in CRS compared with controls, with the most significant decrease in patients with polyps (p < 0. 05).", "output": {"entities": {"gene": [{"text": "BDNF", "start": 5, "end": 9}], "disease": [{"text": "polyps", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The cytogenetic hallmark is the translocation t (12; 22) (q13; q12) resulting in a chimeric EWS/ATF1 gene in which the 3'-terminal part of EWS at 22q is replaced by the 3'-terminal part of ATF1 at 12q.", "output": {"entities": {"gene": [{"text": "EWS", "start": 92, "end": 95}], "disease": [{"text": "translocation", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietin protects against doxorubicin-induced cardiomyopathy via a phosphatidylinositol 3-kinase-dependent pathway.", "output": {"entities": {"gene": [{"text": "Erythropoietin", "start": 0, "end": 14}], "disease": [{"text": "cardiomyopathy", "start": 52, "end": 66}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Erythropoietin", "start": 0, "end": 14}, "tail": {"text": "cardiomyopathy", "start": 52, "end": 66}}]}}, "schema": []}
{"input": "Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.", "output": {"entities": {"gene": [{"text": "CAV3", "start": 60, "end": 64}], "disease": [{"text": "rippling muscle disease", "start": 20, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CAV3", "start": 60, "end": 64}, "tail": {"text": "rippling muscle disease", "start": 20, "end": 43}}]}}, "schema": []}
{"input": "However, somatic mutations in BRCA1 and BRCA2 in sporadic breast and ovarian tumors are rare, even though loss of heterozygosity in BRCA1 and BRCA2 loci in these tumors appears frequently.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 40, "end": 45}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "These data suggest contributions of both IRAK1 and MECP2 to SLE susceptibility.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 51, "end": 56}], "disease": [{"text": "SLE", "start": 60, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 51, "end": 56}, "tail": {"text": "SLE", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "BAP1 deficiency was the only significant independent prognostic predictor for patients with polyploid tumors, with a 16-fold increased hazard ratio (HR 15. 90, P = 0. 009).", "output": {"entities": {"gene": [{"text": "BAP1", "start": 0, "end": 4}], "disease": [{"text": "polyploid", "start": 92, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Of interest, CD2 coexpression in acute myelomonocytic leukemia with eosinophilia (M4-Eo) was exclusively associated with inversion of chromosome 16 (inv 16) and was not observed in the other M4-Eo' s without inv16.", "output": {"entities": {"gene": [{"text": "CD2", "start": 13, "end": 16}], "disease": [{"text": "acute myelomonocytic leukemia", "start": 33, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Heterogenous fusion transcripts involving the NUP98 gene and HOXD13 gene activation in a case of acute myeloid leukemia with the t (2; 11) (q31; p15) translocation.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 46, "end": 56}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q.", "output": {"entities": {"gene": [{"text": "SKY", "start": 32, "end": 35}], "disease": [{"text": "partial trisomy", "start": 173, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Methylation status by using methylation-specific polymerase chain reaction (MS-PCR) and protein expression by using immunohistochemistry for p16 INK4A and MGMT genes were performed in cervical squamous intraepithelial neoplasms (CIN), invasive squamous cell carcinomas (SCC), adenocarcinomas and non-neoplastic cervices.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 155, "end": 159}], "disease": [{"text": "intraepithelial neoplasms", "start": 202, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Five additional heterozygous missense variants in KCNK3 were independently identified in 92 unrelated patients with familial pulmonary arterial hypertension and 230 patients with idiopathic pulmonary arterial hypertension.", "output": {"entities": {"gene": [{"text": "KCNK3", "start": 50, "end": 55}], "disease": [{"text": "familial pulmonary arterial hypertension", "start": 116, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNK3", "start": 50, "end": 55}, "tail": {"text": "familial pulmonary arterial hypertension", "start": 116, "end": 156}}]}}, "schema": []}
{"input": "Dysfunctions of the CFTR gene are responsible for the highly variable clinical presentation ranging from severe CF, disseminated bronchiectasis, idiopathic chronic pancreatitis and congenital bilateral absence of vas deferens (CBAVD).", "output": {"entities": {"gene": [{"text": "CFTR", "start": 20, "end": 24}], "disease": [{"text": "CF", "start": 20, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 20, "end": 24}, "tail": {"text": "CF", "start": 20, "end": 22}}]}}, "schema": []}
{"input": "Disruption of this gene was indicated in a patient with a t (8; 17) (p11; q25) and Ph-negative chronic myeloid leukemia in association with systemic malignant mast cell disease, a patient with acute myeloid leukemia with a t (8; 11) (p11; p15), and two cases with T-cell lymphoma, myeloproliferative disorder, and marrow eosinophilia with a t (8; 12) (p11; q15) and ins (12; 8) (p11; p11p21), respectively.", "output": {"entities": {"gene": [{"text": "p15", "start": 239, "end": 242}], "disease": [{"text": "mast cell disease", "start": 159, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of endothelial chemokine receptors and CXCL8, CCL2, and CCL5 expression by cytotoxic macrophages may regulate myofiber necrosis.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 59, "end": 63}], "disease": [{"text": "necrosis", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We used RNA-seq to investigate samples from individuals diagnosed with small round cell tumors of bone, possibly Ewing sarcoma, but which lacked the canonical EWSR1-ETS translocation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 159, "end": 164}], "disease": [{"text": "translocation", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We examined 64 tag and functional single-nucleotide polymorphisms (SNPs) in the NER genes ERCC1, ERCC2 (XPD), ERCC3 (XPB), ERCC4 (XPF), ERCC5 (XPG), LIG1, XPA, and XPC in a population-based case-control study in Washington state, with 783 endometrial cancer cases and 795 controls.", "output": {"entities": {"gene": [{"text": "ERCC3", "start": 110, "end": 115}], "disease": [{"text": "endometrial cancer", "start": 239, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that LPL mediates HCV cell entry by a mechanism similar to hepatic clearance of TRL from the circulation, promoting a non-productive virus uptake.", "output": {"entities": {"gene": [{"text": "LPL", "start": 26, "end": 29}], "disease": [{"text": "HCV", "start": 39, "end": 42}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LPL", "start": 26, "end": 29}, "tail": {"text": "HCV", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "Various groups have explored the role of the common genetic variation of IDE on insulin resistance and reported associations of various single nucleotide polymorphisms (SNPs) and haplotypes on both type 2 diabetes and glycemic traits.", "output": {"entities": {"gene": [{"text": "IDE", "start": 73, "end": 76}], "disease": [{"text": "insulin resistance", "start": 80, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The human TP53 gene is a possible tumor suppressor since TP53 gene mutations are observed in greater than 70% of sporadic colorectal carcinoma DNAs.", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 10, "end": 19}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We quantified the GIPR and LHCGR expression in a large cohort of 55 patients (25 children and 30 adults) with functioning and non-functioning sporadic adrenocortical tumors.", "output": {"entities": {"gene": [{"text": "LHCGR", "start": 27, "end": 32}], "disease": [{"text": "sporadic", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "A role for DAZL1 and DAZ in spermatogenesis is supported by their homology to a Drosophila male infertility protein Boule and by sterility of Dazl1 knock-out mice.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 11, "end": 14}], "disease": [{"text": "sterility", "start": 129, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that the GSTP1 polymorphism influences individual susceptibility to breast cancer in the Korean women and this effect may be modified by alcohol consumption.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 30, "end": 35}], "disease": [{"text": "alcohol consumption", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "HBx-upregulated lncRNA UCA1 promotes cell growth and tumorigenesis by recruiting EZH2 and repressing p27Kip1/CDK2 signaling.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 109, "end": 113}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Our present study provided the first line of direct evidence suggesting that the CHRNA4 gene combined with CHRNB2 receptor gene may be linked to schizophrenia.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 107, "end": 113}], "disease": [{"text": "schizophrenia", "start": 145, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNB2", "start": 107, "end": 113}, "tail": {"text": "schizophrenia", "start": 145, "end": 158}}]}}, "schema": []}
{"input": "Interestingly, mutations in an inwardly rectifying potassium channel, Kir2. 1, cause a similar constellation of birth defects as in FASD.", "output": {"entities": {"gene": [{"text": "Kir2. 1", "start": 70, "end": 77}], "disease": [{"text": "birth defects", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Among the infants born before 32 weeks of gestation and having the SP-B genotype Thr/Thr, the SP-A1 allele 6A (2) was over-represented in RDS group compared with controls (P = 0. 001, OR = 4. 7, CI 1. 8-12. 2).", "output": {"entities": {"gene": [{"text": "SP-B", "start": 67, "end": 71}], "disease": [{"text": "RDS", "start": 138, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SP-B", "start": 67, "end": 71}, "tail": {"text": "RDS", "start": 138, "end": 141}}]}}, "schema": []}
{"input": "20 microgram TRH injected bilaterally into the caudate-putamen, tuberculum olfactorium, nucleus accumbens, amygdala, lateral ventricles, midbrain or cerebral cortex failed to induce any increase in locomotor activity (measured using photocells), although other behavioural changes were observed after each injection, and included body shakes, limb tremor, repetitive head and limb movements, biting, scratching and an alert appearance.", "output": {"entities": {"gene": [{"text": "TRH", "start": 13, "end": 16}], "disease": [{"text": "shakes", "start": 335, "end": 341}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 13, "end": 16}, "tail": {"text": "shakes", "start": 335, "end": 341}}]}}, "schema": []}
{"input": "We suggest a novel link between HD-associated inflammation and p66 (shc) gene expression contributing to systemic oxidative stress.", "output": {"entities": {"gene": [{"text": "p66", "start": 63, "end": 66}], "disease": [{"text": "inflammation", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Mutations within HESX1 are a rare cause of SOD and hypopituitarism.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 17, "end": 22}], "disease": [{"text": "SOD", "start": 43, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 17, "end": 22}, "tail": {"text": "SOD", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "Mean protein and mRNA levels of AA-selective cytosolic phospholipase A (2) (cPLA (2)) IVA, secretory sPLA (2) IIA, cyclooxygenase (COX)-2 and membrane prostaglandin E synthase (mPGES) were significantly elevated in the BD cortex.", "output": {"entities": {"gene": [{"text": "sPLA (2", "start": 101, "end": 108}], "disease": [{"text": "BD", "start": 219, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sPLA (2", "start": 101, "end": 108}, "tail": {"text": "BD", "start": 219, "end": 221}}]}}, "schema": []}
{"input": "GPR26-deficient mice display increased anxiety-and depression-like behaviors accompanied by reduced phosphorylated cyclic AMP responsive element-binding protein level in central amygdala.", "output": {"entities": {"gene": [{"text": "AMP", "start": 122, "end": 125}], "disease": [{"text": "depression", "start": 51, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 122, "end": 125}, "tail": {"text": "depression", "start": 51, "end": 61}}]}}, "schema": []}
{"input": "Knockdown of LOX led to inhibition of hypoxia-induced invasion and migration.", "output": {"entities": {"gene": [{"text": "LOX", "start": 13, "end": 16}], "disease": [{"text": "hypoxia", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Next, we estimated miR-29b and miR-146a, as well as renalase expression, in genetically hypertensive blood pressure high and genetically hypotensive blood pressure low mice.", "output": {"entities": {"gene": [{"text": "renalase", "start": 52, "end": 60}], "disease": [{"text": "blood pressure low", "start": 149, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "VPS35 mutants showed increased interaction with dynamin-like protein (DLP) 1, which enhanced turnover of the mitochondrial DLP1 complexes via the mitochondria-derived vesicle-dependent trafficking of the complexes to lysosomes for degradation.", "output": {"entities": {"gene": [{"text": "DLP", "start": 70, "end": 73}], "disease": [{"text": "vesicle", "start": 167, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Using a yeast two-hybrid screen, we identified a novel transcription complex AR-p44-Smad1, confirmed for physical interaction by co-immunoprecipitaion and functional interaction with luciferase assays in human prostate cancer cells.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 84, "end": 89}], "disease": [{"text": "prostate cancer", "start": 210, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "A major structural alteration specifically involving the oligomerization domain of a germline p53 gene has not been previously described and occurs in a region rarely mutated in sporadic tumors.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 94, "end": 102}], "disease": [{"text": "sporadic", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "The percentages of CD4 + CD25 + Treg were detected as well as in the blood of carcinoma patients and CIN II/III, but the number of cells was much higher compared to both control and CIN I groups (p < 0. 01).", "output": {"entities": {"gene": [{"text": "CD4", "start": 19, "end": 22}], "disease": [{"text": "carcinoma", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrated that MALAT1 was involved in cervical cancer cell growth, cell cycle progression, and invasion through the regulation of gene expression, such as caspase-3,-8, Bax, Bcl-2, and BclxL, suggesting that MALAT1 could have important implications in cervical cancer biology.", "output": {"entities": {"gene": [{"text": "BclxL", "start": 197, "end": 202}], "disease": [{"text": "cervical cancer", "start": 50, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "As we have found that Lyn, but not Fyn, activity promotes migration of glioblastoma cells in response to the cooperative signal generated by platelet-derived growth factor receptor beta and integrin alpha (v) beta3, we compared the activity and expression of Lyn and Fyn in glioblastoma (grade IV) tumor biopsy samples with that in anaplastic astrocytoma (grade III) tumors, nonneoplastic brain, and normal autopsy brain samples.", "output": {"entities": {"gene": [{"text": "beta3", "start": 209, "end": 214}], "disease": [{"text": "anaplastic astrocytoma", "start": 332, "end": 354}]}, "relations": {}}, "schema": []}
{"input": "Using a knock-in mouse model of SCA1 that recapitulates the selective neurodegeneration seen in affected individuals, we found that elevated Atxn1l levels suppress neuropathology by displacing mutant Atxn1 from its native complex with Capicua (CIC).", "output": {"entities": {"gene": [{"text": "Atxn1l", "start": 141, "end": 147}], "disease": [{"text": "SCA1", "start": 32, "end": 36}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Atxn1l", "start": 141, "end": 147}, "tail": {"text": "SCA1", "start": 32, "end": 36}}]}}, "schema": []}
{"input": "Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.", "output": {"entities": {"gene": [{"text": "ectodysplasin-A", "start": 145, "end": 160}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 30, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ectodysplasin-A", "start": 145, "end": 160}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 30, "end": 63}}]}}, "schema": []}
{"input": "Because huntingtin-interacting protein-1 (HIP1) is known to play a role in tumorigenesis, we tested the involvement of HIP1 in NSCLC progression and metastasis.", "output": {"entities": {"gene": [{"text": "HIP1", "start": 42, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Parathyroid hormone-related protein varies with sex and androgen status in nonsmall cell lung cancer.", "output": {"entities": {"gene": [{"text": "Parathyroid hormone-related protein", "start": 0, "end": 35}], "disease": [{"text": "nonsmall cell lung cancer", "start": 75, "end": 100}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Parathyroid hormone-related protein", "start": 0, "end": 35}, "tail": {"text": "nonsmall cell lung cancer", "start": 75, "end": 100}}]}}, "schema": []}
{"input": "To determine whether HOXD10 is involved in the etiology of idiopathic clubfoot, HOXD10 coding and 5' and 3' untranslated regions were resequenced in 190 patients (177 with clubfoot, 10 with sporadic vertical talus, and 3 with both clubfoot and vertical talus), and 160 ethnically matched control subjects.", "output": {"entities": {"gene": [{"text": "HOXD10", "start": 21, "end": 27}], "disease": [{"text": "sporadic", "start": 190, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We asked whether hypokalemia caused downregulation of the tonicity-responsive enhancer binding protein (TonEBP) transcriptional activator in the renal medulla due to the reduced tonicity.", "output": {"entities": {"gene": [{"text": "TonEBP", "start": 104, "end": 110}], "disease": [{"text": "hypokalemia", "start": 17, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We propose that IL-1 and the IL-6 family of cytokines regulate YKL-40 expression during sterile inflammation via both STAT3 and RelB/p50 complexes.", "output": {"entities": {"gene": [{"text": "RelB", "start": 128, "end": 132}], "disease": [{"text": "inflammation", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Inherited pericentric inversion (X) (p11. 4q11. 2) associated with delayed puberty and obesity in two brothers.", "output": {"entities": {"gene": [{"text": "p11", "start": 37, "end": 40}], "disease": [{"text": "obesity", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In children with asthma who were not receiving any controller medications, sputum amphiregulin level was negatively correlated with the provocative concentration of methacholine causing a 20% fall in FEV (1) (r =-0. 398; p = 0. 008).", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 82, "end": 94}], "disease": [{"text": "fall", "start": 192, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, rat transplanted with EPCs transfected with TERT showed significantly reduced renal interstitial fibrosis and increased endogenous creatinine clearance rate and peritubular MVD (p < 0. 05).", "output": {"entities": {"gene": [{"text": "TERT", "start": 57, "end": 61}], "disease": [{"text": "renal interstitial fibrosis", "start": 91, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The evaluation of CD99 immunoreactivity and EWS/FLI1 translocation by fluorescence in situ hybridization in central PNETs and Ewing' s sarcoma family of tumors.", "output": {"entities": {"gene": [{"text": "EWS", "start": 44, "end": 47}], "disease": [{"text": "translocation", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The CHK2 founder mutation was detected in one out of 101 (1%) of the sporadic MM cases, in none of the 16 familial MMs, and in two of the 1024 individuals (0. 2%) from the general population.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 4, "end": 8}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Moreover, this mouse model is a close reproduction of clinical behavior of ASS in HCC and is useful in testing arginine-depleting agents and for studies of the role of ASS in tumorigenesis.", "output": {"entities": {"gene": [{"text": "ASS", "start": 75, "end": 78}], "disease": [{"text": "tumorigenesis", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "This converging cross-species evidence implicates ADCY7 in the modulation of mood regulatory neural mechanisms and, possibly, risk for and pathophysiology of depression, together supporting a continuous dimensional approach to major depressive disorder and other affective disorders.", "output": {"entities": {"gene": [{"text": "ADCY7", "start": 50, "end": 55}], "disease": [{"text": "depression", "start": 158, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADCY7", "start": 50, "end": 55}, "tail": {"text": "depression", "start": 158, "end": 168}}]}}, "schema": []}
{"input": "Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 41, "end": 46}], "disease": [{"text": "Rett syndrome", "start": 80, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 41, "end": 46}, "tail": {"text": "Rett syndrome", "start": 80, "end": 93}}]}}, "schema": []}
{"input": "BMP7 has unique developmental and trophic actions on catecholamine neurons and these findings suggest that reduced astrocyte support for pontine LC neurons may contribute to pathology of brain noradrenergic neurons in MDD.", "output": {"entities": {"gene": [{"text": "BMP7", "start": 0, "end": 4}], "disease": [{"text": "MDD", "start": 218, "end": 221}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BMP7", "start": 0, "end": 4}, "tail": {"text": "MDD", "start": 218, "end": 221}}]}}, "schema": []}
{"input": "The Ile164 beta2-adrenergic receptor polymorphism adversely affects the outcome of congestive heart failure.", "output": {"entities": {"gene": [{"text": "beta2", "start": 11, "end": 16}], "disease": [{"text": "congestive heart failure", "start": 83, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Antioxidant 1 (Atox1) is shown to act as a copper-dependent transcription factor, as well as a copper chaperone, for SOD3 in vitro, but its role in Ang II-induced hypertension in vivo is unknown.", "output": {"entities": {"gene": [{"text": "Atox1", "start": 15, "end": 20}], "disease": [{"text": "hypertension", "start": 163, "end": 175}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Atox1", "start": 15, "end": 20}, "tail": {"text": "hypertension", "start": 163, "end": 175}}]}}, "schema": []}
{"input": "Mutations in nucleotide sequences encoding one of three specific cysteine residues in the extracellular domain of the RET protein were found in 33 of the 34 MEN2A patients and in five of the six FMTC patients examined.", "output": {"entities": {"gene": [{"text": "RET", "start": 118, "end": 121}], "disease": [{"text": "FMTC", "start": 195, "end": 199}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 118, "end": 121}, "tail": {"text": "FMTC", "start": 195, "end": 199}}]}}, "schema": []}
{"input": "However, transient perinatal hyperkalemia in infants with ROMK mutations suggests an additional function of ROMK for K secretion in the cortical collecting duct.", "output": {"entities": {"gene": [{"text": "ROMK", "start": 58, "end": 62}], "disease": [{"text": "hyperkalemia", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The newborn ovary homeobox gene (NOBOX) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis, thus representing an attractive candidate gene for nonsyndromic ovarian failure.", "output": {"entities": {"gene": [{"text": "NOBOX", "start": 33, "end": 38}], "disease": [{"text": "ovarian failure", "start": 194, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Type 1 diabetes is associated with coronary heart disease (CHD) and coronary artery calcification (CAC), a measure of subclinical CHD.", "output": {"entities": {"gene": [{"text": "CAC", "start": 99, "end": 102}], "disease": [{"text": "coronary artery calcification", "start": 68, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.", "output": {"entities": {"gene": [{"text": "LMNB2", "start": 30, "end": 35}], "disease": [{"text": "acquired partial lipodystrophy", "start": 82, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNB2", "start": 30, "end": 35}, "tail": {"text": "acquired partial lipodystrophy", "start": 82, "end": 112}}]}}, "schema": []}
{"input": "Thus, GFAP-IL6 but not GFAP-TNF mice showed markedly enhanced sensitivity to glutamatergic-but not cholinergic-induced seizures and lethality.", "output": {"entities": {"gene": [{"text": "IL6", "start": 11, "end": 14}], "disease": [{"text": "seizures", "start": 119, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL6", "start": 11, "end": 14}, "tail": {"text": "seizures", "start": 119, "end": 127}}]}}, "schema": []}
{"input": "Familial Alzheimer' s disease (FAD) mutations in APP cause a disease phenotype that is identical (with the exception that they cause an earlier onset of the disease) to that of' sporadic' AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 31, "end": 34}], "disease": [{"text": "sporadic", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.", "output": {"entities": {"gene": [{"text": "AFG3L2", "start": 29, "end": 35}], "disease": [{"text": "spinocerebellar ataxia type 28", "start": 87, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AFG3L2", "start": 29, "end": 35}, "tail": {"text": "spinocerebellar ataxia type 28", "start": 87, "end": 117}}]}}, "schema": []}
{"input": "These data suggest that FGF3 haploinsufficiency is likely to be the cause of otodental syndrome.", "output": {"entities": {"gene": [{"text": "FGF3", "start": 24, "end": 28}], "disease": [{"text": "otodental syndrome", "start": 77, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF3", "start": 24, "end": 28}, "tail": {"text": "otodental syndrome", "start": 77, "end": 95}}]}}, "schema": []}
{"input": "Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.", "output": {"entities": {"gene": [{"text": "PCYT1A", "start": 13, "end": 19}], "disease": [{"text": "spondylometaphyseal dysplasia with cone-rod dystrophy", "start": 26, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCYT1A", "start": 13, "end": 19}, "tail": {"text": "spondylometaphyseal dysplasia with cone-rod dystrophy", "start": 26, "end": 79}}]}}, "schema": []}
{"input": "In conclusion, our study does not support the hypothesis that genes coding for CRH or PENK contribute to the genetic susceptibility to bipolar disorder. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96: 178-181, 2000.", "output": {"entities": {"gene": [{"text": "CRH", "start": 79, "end": 82}], "disease": [{"text": "bipolar disorder", "start": 135, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH", "start": 79, "end": 82}, "tail": {"text": "bipolar disorder", "start": 135, "end": 151}}]}}, "schema": []}
{"input": "The reported patient, in addition to glioma, had suffered from benign meningioma in the past but did not show any clinical signs of Cowden disease or other hereditary diseases typically associated with PTEN germline mutations.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 202, "end": 206}], "disease": [{"text": "benign meningioma", "start": 63, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTEN", "start": 202, "end": 206}, "tail": {"text": "benign meningioma", "start": 63, "end": 80}}]}}, "schema": []}
{"input": "In mice null for the EFNA1 receptor, EphA2, versus control animals, vascular endothelial growth factor receptor blockade and hypoxia caused more severe pulmonary hypertension, judged by elevated right ventricular systolic pressure, right ventricular hypertrophy, and loss of small arteries.", "output": {"entities": {"gene": [{"text": "EFNA1", "start": 21, "end": 26}], "disease": [{"text": "right ventricular hypertrophy", "start": 232, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.", "output": {"entities": {"gene": [{"text": "FAM83H gene", "start": 31, "end": 42}], "disease": [{"text": "mild", "start": 80, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "AIM: To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group.", "output": {"entities": {"gene": [{"text": "PRRT2 gene", "start": 150, "end": 160}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Venous blood was obtained from each patient to determine the HAL concentration/dose (C/D) ratio (plasma concentration of HAL divided by the daily dose of HAL per body weight) and for CYP2D6 genotyping.", "output": {"entities": {"gene": [{"text": "HAL", "start": 61, "end": 64}], "disease": [{"text": "body weight", "start": 162, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Thus, NAT1 polymorphisms may affect the individual bladder cancer risk by interacting with environmental factors (smoking and occupational risks) and by interacting with the NAT2 gene.", "output": {"entities": {"gene": [{"text": "NAT2 gene", "start": 174, "end": 183}], "disease": [{"text": "smoking", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Besides B-cell dominated infiltrates, we observe a hypergammaglobulinemia with immune complex deposits in several tissues, high-titer nuclear autoantibodies and an increased CD4 +/CD8 + ratio.", "output": {"entities": {"gene": [{"text": "CD4", "start": 174, "end": 177}], "disease": [{"text": "hypergammaglobulinemia", "start": 51, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Employing transgenic adenocarcinoma of mouse prostate (TRAMP) mice, we also demonstrated that oral administration of melatonin, at human-achievable doses, significantly inhibited PCa tumorigenesis as shown by decreases in (i) prostate and genitourinary weight, (ii) serum insulin-like growth factor-1 (IGF-1)/IGF-binding protein-3 (IGFBP3) ratio, (iii) mRNA and protein levels of the proliferation markers (PCNA, Ki-67).", "output": {"entities": {"gene": [{"text": "IGF", "start": 302, "end": 305}], "disease": [{"text": "weight", "start": 253, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Conversely, NGF gene transfer ameliorated EC and cardiomyocyte survival, promoted neovascularization and improved myocardial blood flow and cardiac function.", "output": {"entities": {"gene": [{"text": "NGF gene", "start": 12, "end": 20}], "disease": [{"text": "neovascularization", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the mechanism of fibroblastic proliferation observed in this case of myelofibrosis might differ from those reported in other acquired myeloproliferative syndromes and could be associated with an intrinsic abnormality of HOA fibroblast growth.", "output": {"entities": {"gene": [{"text": "HOA", "start": 245, "end": 248}], "disease": [{"text": "myelofibrosis", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "T-regulatory cells that are CD4 + CD25 + and express forkhead box P3, influence the development and expression of atopy and allergic response.", "output": {"entities": {"gene": [{"text": "forkhead box P3", "start": 53, "end": 68}], "disease": [{"text": "allergic response", "start": 124, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed sixty-one sporadic meningiomas for LOH of 22q and for mutations in the NF2 gene.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 98, "end": 106}], "disease": [{"text": "sporadic", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Partial DAZ deletions in a family with five infertile brothers.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 8, "end": 11}], "disease": [{"text": "infertile", "start": 44, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In summary, this project provides further clarity concerning the function of Malat1, specifically in breast cancer, while also indicating that the Nischarin expression context is an important factor in the determining how Malat1 activity is governed in breast cancer.", "output": {"entities": {"gene": [{"text": "Malat1", "start": 77, "end": 83}], "disease": [{"text": "breast cancer", "start": 101, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Malat1", "start": 77, "end": 83}, "tail": {"text": "breast cancer", "start": 101, "end": 114}}]}}, "schema": []}
{"input": "In particular, our highly significant findings regarding the association of rs3758549 reproduce the results of the initial report on transcription factor gene variants, providing further evidence for PITX3 and EN1 polymorphisms as potential genetic risk factors for sporadic PD.", "output": {"entities": {"gene": [{"text": "PITX3", "start": 200, "end": 205}], "disease": [{"text": "sporadic", "start": 266, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Vehicle and untreated NTN exhibited heavy proteinuria and glomerular thrombosis at 24 h with P-selectin and fibrin immunostaining within capillaries, glomerular macrophage and T cell infiltration, activation of JNK and p38 MAPK signalling, and upregulation of glomerular mRNA levels of pro-inflammatory molecules (TNF-α, NOS2, MMP-12 and CCL2).", "output": {"entities": {"gene": [{"text": "NTN", "start": 22, "end": 25}], "disease": [{"text": "heavy proteinuria", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, reinitiation of cell cycle progression by insulin/insulin-like growth factor I in hydroxytamoxifen-arrested cells involves dissociation of the corepressors nuclear receptor corepressor (N-CoR) and silencing mediator for retinoid and thyroid hormone receptor (SMRT) from nuclear estrogen receptor alpha and redistribution to the cytoplasm, a process that is inhibited by mitogen-activated protein/extracellular signal-regulated kinase, but not phosphatidylinositol 3'-kinase, inhibitors.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor I", "start": 63, "end": 91}], "disease": [{"text": "dissociation", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "VGF is also downregulated in the cortices from sporadic cases with major mental disease.", "output": {"entities": {"gene": [{"text": "VGF", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that IFN-gamma suppressed tumor-induced bone loss and hypercalcemia in Tax (+) mice by inhibiting both Tax (+) tumor cell growth and host-induced osteolysis.", "output": {"entities": {"gene": [{"text": "IFN", "start": 28, "end": 31}], "disease": [{"text": "osteolysis", "start": 169, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Pericentrin (PCNT) interacts with disruption-in-schizophrenia 1 (DISC1), a known genetic risk factor for schizophrenia, bipolar disorder and major depressive disorder (MDD).", "output": {"entities": {"gene": [{"text": "PCNT", "start": 13, "end": 17}], "disease": [{"text": "schizophrenia 1", "start": 48, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "While sequencing of a select number of triple negative, basal-like FMAs and testing for loss of heterozygosity of BRCA1 and BRCA2 did not identify mutations similar to those described in human TNBC, further in-depth evaluation is required to elucidate a potential role of BRCA in the tumorigenesis of triple negative, basal-like FMAs.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 124, "end": 129}], "disease": [{"text": "tumorigenesis", "start": 284, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that BAFF and its signalling in B cells contribute to B cell abnormalities and the development of skin disease in patients with BD.", "output": {"entities": {"gene": [{"text": "BAFF", "start": 27, "end": 31}], "disease": [{"text": "abnormalities", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.", "output": {"entities": {"gene": [{"text": "AIRE", "start": 46, "end": 50}], "disease": [{"text": "autoimmune polyendocrine syndrome type 1", "start": 63, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 46, "end": 50}, "tail": {"text": "autoimmune polyendocrine syndrome type 1", "start": 63, "end": 103}}]}}, "schema": []}
{"input": "When CSF cytology specimens were appropriately prepared and had adequate cellularity without dry artifacts, the CSF cytology was suitable to evaluate HER2 status by FISH analysis in patients with LM.", "output": {"entities": {"gene": [{"text": "HER2", "start": 150, "end": 154}], "disease": [{"text": "dry", "start": 93, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the hypothesis that smoking is primarily linked to a specific colon tumor subgroup (s), we assessed associations between smoking and the occurrence of mutations in the APC, K-ras and p53 genes, p53 overexpression, and microsatellite instability (MSI) in a Dutch population-based case-control study on sporadic colon carcinomas.", "output": {"entities": {"gene": [{"text": "genes, p53", "start": 199, "end": 209}], "disease": [{"text": "sporadic", "start": 313, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "TIMP-1 levels in plasma, CSF, and brain tissue of control, HIV-1 infected patients without cognitive impairment, and HAD patients were also studied.", "output": {"entities": {"gene": [{"text": "HAD", "start": 117, "end": 120}], "disease": [{"text": "cognitive impairment", "start": 91, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The adhesion probabilities of this pair of cells were mediated by specific interactions between ICAM-1 and LFA-1.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 107, "end": 112}], "disease": [{"text": "adhesion", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "miR-29b is increased in memory CD4 (+) T cells from multiple sclerosis (MS) patients, which may reflect chronic Th1 inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 112, "end": 115}], "disease": [{"text": "inflammation", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune neutropenia, thrombocytopenia and haemolytic anaemia are known as sequelae of B19 infections.", "output": {"entities": {"gene": [{"text": "B19", "start": 89, "end": 92}], "disease": [{"text": "thrombocytopenia", "start": 24, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "This androgen regulation of clusterin may underline the cytoprotective role of androgens in normal prostate physiology as well as play an antiapoptotic role in prostate cancer progression.", "output": {"entities": {"gene": [{"text": "clusterin", "start": 28, "end": 37}], "disease": [{"text": "prostate cancer", "start": 160, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "clusterin", "start": 28, "end": 37}, "tail": {"text": "prostate cancer", "start": 160, "end": 175}}]}}, "schema": []}
{"input": "Although 17p LOH is correlated with common p53 gene mutations, inactivating mutations of the BRCA1 gene are uncommon in sporadic ovarian cases.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 43, "end": 51}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The ALG12 mannosyltransferase defect defines a new type of congenital disorder of glycosylation, designated CDG-Ig.", "output": {"entities": {"gene": [{"text": "ALG12", "start": 4, "end": 9}], "disease": [{"text": "CDG-Ig", "start": 108, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALG12", "start": 4, "end": 9}, "tail": {"text": "CDG-Ig", "start": 108, "end": 114}}]}}, "schema": []}
{"input": "Our data show that the pathogenesis of proteinuria in anti-Thy1 glomerulonephritis involves TNF-α and TGF-β/activin pathways, and the evolution of this process can be attenuated by pentoxifylline via downregulation of NF-κB and Smad signals and restoration of the podocyte component of the glomerular filtration barrier.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 218, "end": 223}], "disease": [{"text": "proteinuria", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.", "output": {"entities": {"gene": [{"text": "Meis 1", "start": 43, "end": 49}], "disease": [{"text": "breast cancer", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Meis 1", "start": 43, "end": 49}, "tail": {"text": "breast cancer", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "However, prognostic significance of tumoral cyclin D1 remains uncertain, and no previous study has considered potential confounding effect of p53, p21, p27, and related molecular events [microsatellite instability (MSI), CpG island methylator phenotype, and LINE-1 hypomethylation].", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 44, "end": 53}], "disease": [{"text": "microsatellite instability", "start": 187, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "These findings, combined with those of previous studies, demonstrate an adhesion-mediated NFκB/IL-1/TGF-β1 axis that can be initiated by increased FN in patients with myelofibrosis for the production of SP.", "output": {"entities": {"gene": [{"text": "NFκB", "start": 90, "end": 94}], "disease": [{"text": "adhesion", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In this study, we used ex vivo and in vivo approaches to define a mechanotransduction pathway involving Rho/Rho kinase (Rho/ROCK), actin cytoskeletal remodeling, and a mechanosensitive transcription factor, megakaryoblastic leukemia 1 (MKL1), that coordinately regulate myofibroblast differentiation and survival.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 108, "end": 118}], "disease": [{"text": "megakaryoblastic leukemia", "start": 207, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of the two frequently mutated ADAM genes, ADAM29 and ADAM7 demonstrated that the mutations affect adhesion of melanoma cells to specific extracellular matrix proteins and in some cases increase their migration ability.", "output": {"entities": {"gene": [{"text": "ADAM7", "start": 73, "end": 78}], "disease": [{"text": "melanoma", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Although high expression of ZEB1 mRNA is estrogen-dependent in normal human ovarian and endometrial biopsies, high expression is estrogen-independent in late stage ovarian and endometrial carcinomas, raising the possibility that deregulated expression promotes cancer progression.", "output": {"entities": {"gene": [{"text": "ZEB1", "start": 28, "end": 32}], "disease": [{"text": "endometrial carcinomas", "start": 176, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZEB1", "start": 28, "end": 32}, "tail": {"text": "endometrial carcinomas", "start": 176, "end": 198}}]}}, "schema": []}
{"input": "Transcription factor activity was not detected in pulmonary CD4 (+) T lymphocytes from normal controls or from peripheral blood CD4 (+) T lymphocytes from individuals with sarcoidosis, further evidence of compartmentalization of the lymphoproliferative process in this condition.", "output": {"entities": {"gene": [{"text": "CD4", "start": 60, "end": 63}], "disease": [{"text": "sarcoidosis", "start": 172, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, after the western blot validation only two of the remaining proteins, namely LIM and SH3 domain protein1, and short-chain specific acyl-CoA dehydrogenase mitochondrial protein, resulted in being significantly upregulated in PBD samples suggesting additional mechanisms that could be associated with the psychotic features of bipolar disorder.", "output": {"entities": {"gene": [{"text": "short-chain specific acyl-CoA dehydrogenase mitochondrial", "start": 124, "end": 181}], "disease": [{"text": "bipolar disorder", "start": 339, "end": 355}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "short-chain specific acyl-CoA dehydrogenase mitochondrial", "start": 124, "end": 181}, "tail": {"text": "bipolar disorder", "start": 339, "end": 355}}]}}, "schema": []}
{"input": "CML66 antibody also was found in sera from 18-38% of patients with lung cancer, melanoma, and prostate cancer.", "output": {"entities": {"gene": [{"text": "CML66", "start": 0, "end": 5}], "disease": [{"text": "melanoma", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Hepatitis C virus core protein epigenetically silences SFRP1 and enhances HCC aggressiveness by inducing epithelial-mesenchymal transition.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 55, "end": 60}], "disease": [{"text": "aggressiveness", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "MSR1", "start": 22, "end": 26}], "disease": [{"text": "esophageal adenocarcinoma", "start": 85, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "CD8 (+) T cells contribute to central nervous system inflammation in human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP).", "output": {"entities": {"gene": [{"text": "CD8", "start": 0, "end": 3}], "disease": [{"text": "tropical spastic paraparesis", "start": 139, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Elevated production of TWEAK is correlated positively and significantly with SLEDAI, proteinuria, serum anti-dsDNA, IL-10 and MCP-1, but inversely associated with serum complements.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 116, "end": 121}], "disease": [{"text": "proteinuria", "start": 85, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Obese subjects showed significantly greater levels of systolic blood pressure (SBP) (p < 0. 01), diastolic blood pressure (DBP) (p < 0. 05), plasma insulin (p < 0. 05), and HOMA-IR (p < 0. 05) when compared with normal weight subjects.", "output": {"entities": {"gene": [{"text": "DBP", "start": 123, "end": 126}], "disease": [{"text": "systolic blood pressure", "start": 54, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Several of the affected genes were known to be associated with aggressive prostate cancer such as loss of PTEN, CDH1, BCAR1 and gain of MYC.", "output": {"entities": {"gene": [{"text": "BCAR1", "start": 118, "end": 123}], "disease": [{"text": "prostate cancer", "start": 74, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR1", "start": 118, "end": 123}, "tail": {"text": "prostate cancer", "start": 74, "end": 89}}]}}, "schema": []}
{"input": "Recent studies on the liver X receptor-alpha (LXR-alpha) have recognized its crucial protective role in the initiation of a cross-talk between lipid metabolism and inflammation regarded as a prerequisite for the development of atherosclerotic lesions.", "output": {"entities": {"gene": [{"text": "liver X receptor-alpha", "start": 22, "end": 44}], "disease": [{"text": "inflammation", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "RT-PCR analyses also demonstrated elevated constitutive aryl hydrocarbon receptor nuclear translocator mRNA content (an approximately two-fold increase) in skin tumors.", "output": {"entities": {"gene": [{"text": "aryl hydrocarbon receptor nuclear translocator", "start": 56, "end": 102}], "disease": [{"text": "skin tumors", "start": 156, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever.", "output": {"entities": {"gene": [{"text": "MEFV gene", "start": 112, "end": 121}], "disease": [{"text": "episodic fever", "start": 23, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Lower expression of nuclear ING5 was detected in gastric dysplasia and carcinoma than that in nonneoplastic mucosa (P <. 05).", "output": {"entities": {"gene": [{"text": "ING5", "start": 28, "end": 32}], "disease": [{"text": "gastric dysplasia", "start": 49, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the expressions of Toll-like receptor (TLR) 2, TLR4, TLR9, and their correlations with the expression of cytokines that are associated with activation of CD4 (+) T cells and inflammation including interferon gamma (IFNgamma), interleukin 4 (IL4), interleukin 17 (IL17), and tumor necrosis factor alpha (TNFalpha) in muscle tissues of patients with dermatomyositis (DM) and polymyositis (PM).", "output": {"entities": {"gene": [{"text": "IL4", "start": 282, "end": 285}], "disease": [{"text": "inflammation", "start": 215, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We also show that geranylgeranylpyrophosphate (GGPP), but not farnesylpyrophosphate, induces CTGF promoter activity following simvastatin inhibition by 55. 3 and 31. 1% over GGPP-negative cultures in IMR90 and IPF-derived fibroblasts, respectively, implicating small GTPase Rho involvement rather than Ras in these effects.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 93, "end": 97}], "disease": [{"text": "IPF", "start": 210, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTGF", "start": 93, "end": 97}, "tail": {"text": "IPF", "start": 210, "end": 213}}]}}, "schema": []}
{"input": "To identify the autoantigen recognized by the autoantibody that is associated with clinically amyopathic dermatomyositis (C-ADM) and rapidly progressive interstitial lung disease (ILD).", "output": {"entities": {"gene": [{"text": "ADM", "start": 124, "end": 127}], "disease": [{"text": "rapidly progressive", "start": 133, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic analysis of a de novo balanced translocation t (6; 17) (p21. 31; q11. 2) associated with hypospadias and anorectal malformation.", "output": {"entities": {"gene": [{"text": "p21", "start": 74, "end": 77}], "disease": [{"text": "hypospadias", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Together, our results reveal a Sin1-phosphorylation-dependent mTORC2 regulation, providing a potential molecular mechanism by which mutations in the mTORC1-S6K-Sin1 signalling axis might cause aberrant hyper-activation of the mTORC2-Akt pathway, which facilitates tumorigenesis.", "output": {"entities": {"gene": [{"text": "Sin1", "start": 31, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 264, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n = 5) and two patients with temporal lobe epilepsy with hippocampal sclerosis.", "output": {"entities": {"gene": [{"text": "MRI", "start": 94, "end": 97}], "disease": [{"text": "epilepsy", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Peroxisome proliferator-activated receptor alpha (PPAR & #945;) has been implicated in the pathogenesis of cardiac hypertrophy, although its mechanism of action remains largely unknown.", "output": {"entities": {"gene": [{"text": "Peroxisome proliferator-activated receptor alpha", "start": 0, "end": 48}], "disease": [{"text": "cardiac hypertrophy", "start": 107, "end": 126}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Peroxisome proliferator-activated receptor alpha", "start": 0, "end": 48}, "tail": {"text": "cardiac hypertrophy", "start": 107, "end": 126}}]}}, "schema": []}
{"input": "Furthermore, melanoma B16F0 cells injected into the retro-orbital sinus also metastasized less efficiently in mice expressing ANGPTL4.", "output": {"entities": {"gene": [{"text": "ANGPTL4", "start": 126, "end": 133}], "disease": [{"text": "metastasized", "start": 77, "end": 89}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ANGPTL4", "start": 126, "end": 133}, "tail": {"text": "metastasized", "start": 77, "end": 89}}]}}, "schema": []}
{"input": "Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal.", "output": {"entities": {"gene": [{"text": "Sox3", "start": 55, "end": 59}], "disease": [{"text": "sex reversal", "start": 158, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 178, "end": 183}], "disease": [{"text": "hemolysis", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor.", "output": {"entities": {"gene": [{"text": "orphan G protein-coupled receptor", "start": 92, "end": 125}], "disease": [{"text": "bipolar affective disorder", "start": 33, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "orphan G protein-coupled receptor", "start": 92, "end": 125}, "tail": {"text": "bipolar affective disorder", "start": 33, "end": 59}}]}}, "schema": []}
{"input": "Evaluation of additional FCCX families for mutations in RPS20 and other ribosome-associated genes is warranted.", "output": {"entities": {"gene": [{"text": "RPS20", "start": 56, "end": 61}], "disease": [{"text": "FCCX", "start": 25, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPS20", "start": 56, "end": 61}, "tail": {"text": "FCCX", "start": 25, "end": 29}}]}}, "schema": []}
{"input": "The proposed model states that the RER + carcinogenesis is divided into two clearly distinct evolutive phases: (1) a preliminary phase starting with the counter-selective loss of mismatch repair function, in which most clones with the RER mutator phenotype are eliminated through apoptosis or an accelerated aging process; (2) an explosive phase that is initiated only if mutations blocking apoptosis and senescence, rapidly acquired during the short life span of the nontransformed RER + clones, eventually rescue one RER + cell that gives rise to the malignant clone.", "output": {"entities": {"gene": [{"text": "RER", "start": 35, "end": 38}], "disease": [{"text": "carcinogenesis", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Thus hepadnavirus infection may play an important role in the development of HCC by causing chronic hepatitis and HCC with the same mechanisms by which other risk factors for HCC cause chronic necroinflammatory liver disease and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 77, "end": 80}], "disease": [{"text": "chronic hepatitis", "start": 92, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "A sporadic RP was found carrying a sequence variant of PDE6B gene, a G to C transversion in intron 18, the 15th base adjacent to the 3' end of exon 18.", "output": {"entities": {"gene": [{"text": "PDE6B gene", "start": 55, "end": 65}], "disease": [{"text": "sporadic", "start": 2, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "As roles for 5-HT7 receptors in anxiety and depression were recently established, the current findings have implications for understanding the high anxiety and depressive-like phenotype of SERT-deficient mice.", "output": {"entities": {"gene": [{"text": "5-HT7", "start": 13, "end": 18}], "disease": [{"text": "depression", "start": 44, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT7", "start": 13, "end": 18}, "tail": {"text": "depression", "start": 44, "end": 54}}]}}, "schema": []}
{"input": "Electrophoretic mobility shift assays and immunodepletion assays were used to further define the interaction of Ref-1 with specific AP-1-binding proteins under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 132, "end": 136}], "disease": [{"text": "hypoxic", "start": 160, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.", "output": {"entities": {"gene": [{"text": "TBC1D24", "start": 0, "end": 7}], "disease": [{"text": "infantile myoclonic epilepsy", "start": 61, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBC1D24", "start": 0, "end": 7}, "tail": {"text": "infantile myoclonic epilepsy", "start": 61, "end": 89}}]}}, "schema": []}
{"input": "MIB 1 immunostaining in cervical intraepithelial neoplasia: prognostic significance in mild and moderate lesions.", "output": {"entities": {"gene": [{"text": "MIB", "start": 0, "end": 3}], "disease": [{"text": "mild", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Lipopolysaccharide-binding protein, a surrogate marker of microbial translocation, is associated with physical function in healthy older adults.", "output": {"entities": {"gene": [{"text": "Lipopolysaccharide-binding protein", "start": 0, "end": 34}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Inhibition by specific PLB1 antibodies, or inhibitors of phospholipase B (PLB), but not lysophospholipase (LPL) or lysophospholipase transacylase (LPTA) activities decreased the adhesion of H99 and deltaplb1rec by 33-58%.", "output": {"entities": {"gene": [{"text": "PLB", "start": 23, "end": 26}], "disease": [{"text": "adhesion", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "HLA DR5 was associated with relapsing thyrotoxicosis, whereas HLA DR7 and B12 were negatively correlated with relapse.", "output": {"entities": {"gene": [{"text": "DR5", "start": 4, "end": 7}], "disease": [{"text": "thyrotoxicosis", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The frequency of obesity (BMI ≥ 25 kg/m (2)) in CC genotype carriers was significantly greater than in T allele carriers (31. 8% vs 21. 5%), but the frequency of central obesity (WC ≥ 85 for men and WC ≥ 90 cm for women) was not significant by CNR1 4895 C/T genotype.", "output": {"entities": {"gene": [{"text": "CNR1", "start": 244, "end": 248}], "disease": [{"text": "central obesity", "start": 162, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Lymphocytic infiltration is the most common histologic feature observed in primary mediastinal seminoma and both OCT4 immunostain and FISH for 12p abnormalities can be very helpful in diagnosing mediastinal seminoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 134, "end": 138}], "disease": [{"text": "mediastinal seminoma", "start": 83, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Altered intra-amniotic levels of anti-inflammatory cytokines, interleukin (IL) 1ra and IL-4, and beta2-adrenergic receptor (beta2AR) production have been associated with preterm labor and delivery.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 87, "end": 91}], "disease": [{"text": "preterm labor", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "The polymorphisms of codon 727 and 52 of thyroid-stimulating hormone receptor gene are not associated with mitral valve prolapse syndrome in Taiwan Chinese.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 61, "end": 77}], "disease": [{"text": "mitral valve prolapse syndrome", "start": 107, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that prolonged arginine starvation by exposure to ADI-PEG20 (pegylated arginine deiminase) induced autophagy-dependent death of ASS1-deficient breast cancer cells, because these cells are arginine auxotrophs (dependent on uptake of extracellular arginine).", "output": {"entities": {"gene": [{"text": "ASS1", "start": 144, "end": 148}], "disease": [{"text": "breast cancer", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The CYP2B6 * 6 allele is associated with a substantial decrease in steady-state ketamine plasma clearance in chronic pain patients.", "output": {"entities": {"gene": [{"text": "CYP2B6", "start": 4, "end": 10}], "disease": [{"text": "chronic pain", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "hMSH6", "start": 46, "end": 51}], "disease": [{"text": "colorectal cancer", "start": 107, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMSH6", "start": 46, "end": 51}, "tail": {"text": "colorectal cancer", "start": 107, "end": 124}}]}}, "schema": []}
{"input": "The activated leukocyte cell adhesion molecule (ALCAM) is involved in cell migration and adhesion.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 48, "end": 53}], "disease": [{"text": "adhesion", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations in BRCA1 and BRCA2 have not been found and the involvement of these genes in sporadic tumour development therefore remains unclear.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 31, "end": 36}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The expression of LSD1 which mainly located in nuclei of cancer cells significantly increased in bone marrows of bone cancer pain rats from 14 d to 21 d after inoculation.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 18, "end": 22}], "disease": [{"text": "cancer pain", "start": 118, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to investigate whether the BDNF Val66Met polymorphism plays a role in endometriosis, endometriosis-related infertility and the outcomes of IVF and embryo transfer (IVF-ET).", "output": {"entities": {"gene": [{"text": "BDNF", "start": 52, "end": 56}], "disease": [{"text": "infertility", "start": 132, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.", "output": {"entities": {"gene": [{"text": "Ganglioside-induced differentiation-associated protein-1", "start": 0, "end": 56}], "disease": [{"text": "Charcot-Marie-Tooth disease type 4A", "start": 70, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Ganglioside-induced differentiation-associated protein-1", "start": 0, "end": 56}, "tail": {"text": "Charcot-Marie-Tooth disease type 4A", "start": 70, "end": 105}}]}}, "schema": []}
{"input": "Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 22, "end": 47}], "disease": [{"text": "acute intermittent porphyria", "start": 70, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 22, "end": 47}, "tail": {"text": "acute intermittent porphyria", "start": 70, "end": 98}}]}}, "schema": []}
{"input": "To determine whether cytokines are generated in vivo in subjects with asthma, we have measured cytokine levels (tumor necrosis factor [TNF], granulocyte-macrophage-colony-stimulating factor [GM-CSF], interleukin [IL]-1 alpha, IL-1 beta, IL-2, IL-4, and IL-6) in the airways of subjects with symptomatic (N = 24) and asymptomatic (N = 9) asthma with immunoassays (GM-CSF, IL-1 alpha, IL-1 beta, IL-2, and IL-4) or bioassays (TNF and IL-6) and the polymerase chain reaction (IL-1 beta and TNF).", "output": {"entities": {"gene": [{"text": "IL-2", "start": 237, "end": 241}], "disease": [{"text": "asymptomatic", "start": 316, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "Targeted knockdown of PFKFB3 also limited cell growth under normoxic and hypoxic conditions and blocked in vivo tumor formation in mice.", "output": {"entities": {"gene": [{"text": "PFKFB3", "start": 22, "end": 28}], "disease": [{"text": "hypoxic", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We examined whether TH1-and TH2-type cytokines are expressed by atopic asthmatic sensitized ASM and serve to autologously regulate the proasthmatic phenotype in the sensitized ASM.", "output": {"entities": {"gene": [{"text": "TH1", "start": 20, "end": 23}], "disease": [{"text": "atopic", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The association of RAD52-rs3748522 with SGC was strongest for mucoepidermoid carcinoma (OR = 2. 21, 95% CI: 1. 55-3. 15, P = 1. 25 × 10 (-5), n = 74), and the association of XRCC4-rs13180356 with SGC was strongest for adenoid cystic carcinoma (OR = 0. 60, 95% CI: 0. 42-0. 87, P = 6. 91 × 10 (-3), n = 123).", "output": {"entities": {"gene": [{"text": "XRCC4", "start": 174, "end": 179}], "disease": [{"text": "adenoid cystic carcinoma", "start": 218, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "These results reveal a presynaptic-and translation-independent function of FMRP that is linked to a specific subset of FXS phenotypes.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 75, "end": 79}], "disease": [{"text": "FXS", "start": 119, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 75, "end": 79}, "tail": {"text": "FXS", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.", "output": {"entities": {"gene": [{"text": "acid sphingomyelinase", "start": 68, "end": 89}], "disease": [{"text": "type A Niemann-Pick disease", "start": 124, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid sphingomyelinase", "start": 68, "end": 89}, "tail": {"text": "type A Niemann-Pick disease", "start": 124, "end": 151}}]}}, "schema": []}
{"input": "The neuroprotective role of attractin in neurodegeneration.", "output": {"entities": {"gene": [{"text": "attractin", "start": 28, "end": 37}], "disease": [{"text": "neurodegeneration", "start": 41, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "attractin", "start": 28, "end": 37}, "tail": {"text": "neurodegeneration", "start": 41, "end": 58}}]}}, "schema": []}
{"input": "We found that SIRT1 overexpression prevented TNF-α-and high-glucose-dependent nuclear factor-κB (NF-κB)-p65 acetylation, E-selectin promoter activity, E-selectin release and adhesion of THP-1 cells to HUVECs.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 97, "end": 102}], "disease": [{"text": "adhesion", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Novel genes associated with SLE susceptibility included two transcription factors (EHF and MED1), two components of the NF-κB pathway (RASSF2 and RNF114), one gene involved in adhesion and endothelial migration (CNTN6) and two genes involved in antigen presentation (BIN1 and SEC61G).", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 120, "end": 125}], "disease": [{"text": "adhesion", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The aim of the current study was to investigate the frequency of these BRCA1 and BRCA2 mutations in southern Iranian familial and sporadic cases with breast cancer. Two hundred fifty women with sporadic breast cancer, 55 women with a familial history of breast cancer in their first degree-relatives and 200 healthy women formed the studied groups.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 81, "end": 86}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "To characterize in detail the phenotype of five unrelated families with autosomal dominant bull' s eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene.", "output": {"entities": {"gene": [{"text": "PROM1 gene", "start": 154, "end": 164}], "disease": [{"text": "bull' s eye maculopathy", "start": 91, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in ADCY8 and ADCY5 and within a lincRNA are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression.", "output": {"entities": {"gene": [{"text": "ADCY5", "start": 27, "end": 32}], "disease": [{"text": "depression", "start": 161, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADCY5", "start": 27, "end": 32}, "tail": {"text": "depression", "start": 161, "end": 171}}]}}, "schema": []}
{"input": "We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism.", "output": {"entities": {"gene": [{"text": "PIN1", "start": 53, "end": 57}], "disease": [{"text": "idiopathic hypogonadotropic hypogonadism", "start": 249, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Correlation of p53 mutations with epidermal growth factor receptor overexpression and absence of mdm2 amplification in human esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "mdm2", "start": 97, "end": 101}], "disease": [{"text": "esophageal", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In other studies, we show that the small-molecule p38 inhibitors SD-282 and SCIO-469 potentiate As (2) O (3)-mediated suppression of myeloid leukemic progenitor growth from CML patients, indicating a critical regulatory role for p38 in the induction of antileukemic responses.", "output": {"entities": {"gene": [{"text": "p38", "start": 50, "end": 53}], "disease": [{"text": "CML", "start": 173, "end": 176}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "p38", "start": 50, "end": 53}, "tail": {"text": "CML", "start": 173, "end": 176}}]}}, "schema": []}
{"input": "Using tissue microarrays we examined both nuclear and cytoplasmic levels of MMR proteins MSH2, MSH6, MSH3, MLH1 and PMS2 in more than 200 cases of cutaneous SCC and basal cell carcinoma (BCC).", "output": {"entities": {"gene": [{"text": "MSH6", "start": 95, "end": 99}], "disease": [{"text": "basal cell carcinoma", "start": 165, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We report (a) previously unknown high-frequency copy-neutral LOH (uniparental disomy) in FL on chromosomes 1p (approximately 50%) and 6p (approximately 30%); (b) that del6q is complex, as reported, with at least two regions of minimal common loss at 6q13-15 and 6q23-24, and that in addition, approximately 8% of FL specimens contain a homozygous deletion at 6q23. 3-24. 1 that spans the negative NFkappaB regulator A20 and the p53 apoptosis effector PERP; (c) that combined analysis of chromosome 17p for LOH, copy number, and p53 mutations shows that most p53 mutations in FL do not involve del17p.", "output": {"entities": {"gene": [{"text": "PERP", "start": 451, "end": 455}], "disease": [{"text": "uniparental disomy", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Tumour necrosis factor-alpha gene polymorphisms in Iranian patients with biliary atresia.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 23, "end": 33}], "disease": [{"text": "biliary atresia", "start": 73, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene.", "output": {"entities": {"gene": [{"text": "NOTCH3", "start": 77, "end": 83}], "disease": [{"text": "IM", "start": 60, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOTCH3", "start": 77, "end": 83}, "tail": {"text": "IM", "start": 60, "end": 62}}]}}, "schema": []}
{"input": "Enhanced expression of BCL2/adenovirus EIB 19-kDa-interacting protein 3 mRNA, a candidate for intrinsic depression-related factor, and effects of imipramine in the frontal cortex of stressed mice.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 23, "end": 27}], "disease": [{"text": "depression", "start": 104, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCL2", "start": 23, "end": 27}, "tail": {"text": "depression", "start": 104, "end": 114}}]}}, "schema": []}
{"input": "Other human postthymic leukemias, such as T-prolymphocytic leukemias, involve mostly the CD4 cellular subset and share many similarities to ATLs (aggressive course, cutaneous involvement, CD4 +, CD29 +, CD45RA-phenotype, and alpha-naphthyl-acetate esterase positivity).", "output": {"entities": {"gene": [{"text": "CD4", "start": 89, "end": 92}], "disease": [{"text": "leukemias", "start": 23, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Stress or heat shock proteins (HSPs) such as HSP27 and HSP70 are expressed in response to a wide variety of physiological and environmental insults including heat, reactive oxygen species or anticancer drugs.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 55, "end": 60}], "disease": [{"text": "shock", "start": 15, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The interaction with proinsulin but not insulin remained statistically significant after further adjustment for other factors associated with insulin resistance (triglycerides and BMI) and C-reactive protein (P = 0. 01).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 189, "end": 207}], "disease": [{"text": "insulin resistance", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "To investigate dynamic changes in the expression of HCN2, HCN4, as well as KCNE1, and KCNE2 mRNA and protein levels in ventricular cells from acute myocardial infarction (AMI) rat hearts.", "output": {"entities": {"gene": [{"text": "HCN4", "start": 58, "end": 62}], "disease": [{"text": "acute myocardial infarction", "start": 142, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "None of traditional cardiovascular risk factors, including body mass index, blood pressures, lipids, glucose, C-reactive protein, creatinine, and insulin resistance, was associated with haplogroup I of the Y chromosome in the joint inverse variance meta-analysis.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 110, "end": 128}], "disease": [{"text": "insulin resistance", "start": 146, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%.", "output": {"entities": {"gene": [{"text": "IQSEC1", "start": 143, "end": 149}], "disease": [{"text": "tumor progression", "start": 256, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Major gene families implicated in malignancy by over-expression in carcinomas included the annexins (annexin A1 and A4) and Stat family of transcription factors (Stat3 and Stat5a).", "output": {"entities": {"gene": [{"text": "annexin A1", "start": 101, "end": 111}], "disease": [{"text": "carcinomas", "start": 67, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "annexin A1", "start": 101, "end": 111}, "tail": {"text": "carcinomas", "start": 67, "end": 77}}]}}, "schema": []}
{"input": "We found that ASXL3 interacts with BAP1, a hydrolase that removes mono-ubiquitin from histone H2A lysine 119 (H2AK119Ub1) as a component of the Polycomb repressive deubiquitination (PR-DUB) complex.", "output": {"entities": {"gene": [{"text": "BAP1", "start": 35, "end": 39}], "disease": [{"text": "mono", "start": 66, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Since CGRP has potent vasodilatory activity, it has long been considered to be involved in aggravation of inflammation such as tissue hyperemia and edema.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 6, "end": 10}], "disease": [{"text": "hyperemia", "start": 134, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Thus our data suggest that Akt2/B23 functions as an oncogenic unit to drive tumorigenesis of A549 lung cancer cells.", "output": {"entities": {"gene": [{"text": "B23", "start": 32, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "And our results indicated that adenovirus-delivered shRNA may serve as a novel therapeutic for HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 95, "end": 98}], "disease": [{"text": "adenovirus", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Three members of the caspase recruitment domain (CARD) family of adaptors (CARD9, CARD10, and CARD11) are known to form heterotrimers with B-cell lymphoma 10 (BCL10) and mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1).", "output": {"entities": {"gene": [{"text": "CARD10", "start": 82, "end": 88}], "disease": [{"text": "mucosa-associated lymphoid tissue lymphoma", "start": 170, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined interactions between the Cx37 polymorphism and common risk factors and their associations to early vascular parameters of atherosclerosis: carotid artery intima-media thickness (IMT), and carotid artery compliance (CAC) and brachial artery flow mediated dilatation (FMD).", "output": {"entities": {"gene": [{"text": "Cx37", "start": 52, "end": 56}], "disease": [{"text": "dilatation", "start": 281, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "In patients with endometrioid adenocarcinoma, 17 cases showed reduced expression of MRP1/CD9, and 20 cases had reduced expression of integrin alpha3.", "output": {"entities": {"gene": [{"text": "CD9", "start": 89, "end": 92}], "disease": [{"text": "endometrioid adenocarcinoma", "start": 17, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.", "output": {"entities": {"gene": [{"text": "SLC29A3", "start": 31, "end": 38}], "disease": [{"text": "cutaneous hyperpigmentation", "start": 183, "end": 210}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC29A3", "start": 31, "end": 38}, "tail": {"text": "cutaneous hyperpigmentation", "start": 183, "end": 210}}]}}, "schema": []}
{"input": "Therefore, whereas genetic disruption of NKX3. 1 in mice leads to PIN, nongenetic mechanisms reduce NKX3. 1 protein levels early in human prostate carcinogenesis, which may facilitate both proliferation and DNA damage in atrophic and PIN cells.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 100, "end": 107}], "disease": [{"text": "atrophic", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "We were not able to find any correlation among smoking, dietary patterns, parameters of tumor aggressiveness or patient outcome and any NAT2 genotypes or phenotypes considered in separate or in different combinations.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 136, "end": 140}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "These results may indicate a role of Cx32 and Cx43 in urethane-induced lung carcinogenesis, since their absence may contribute to the development of urethane induced lung tumors.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 46, "end": 50}], "disease": [{"text": "lung tumors", "start": 166, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cx43", "start": 46, "end": 50}, "tail": {"text": "lung tumors", "start": 166, "end": 177}}]}}, "schema": []}
{"input": "Mutations of the MECP2 (methyl-CpG-binding protein) gene mainly cause Rett syndrome but were also shown to be involved in mental retardation.", "output": {"entities": {"gene": [{"text": "CpG-binding protein", "start": 31, "end": 50}], "disease": [{"text": "mental retardation", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "In this report we analyzed fifteen Japanese familial Alzheimer' s disease (FAD) including 12 early-onset FAD and 13 sporadic AD patients for the mutation of PS-1 gene by direct sequence analysis.", "output": {"entities": {"gene": [{"text": "FAD", "start": 75, "end": 78}], "disease": [{"text": "sporadic", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.", "output": {"entities": {"gene": [{"text": "PEX13", "start": 29, "end": 34}], "disease": [{"text": "Zellweger syndrome", "start": 0, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PEX13", "start": 29, "end": 34}, "tail": {"text": "Zellweger syndrome", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "ClC-3 protein may be considered as a potential tumor marker and therapeutic target for human nasopharyngeal carcinoma.", "output": {"entities": {"gene": [{"text": "ClC-3", "start": 0, "end": 5}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 93, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ClC-3", "start": 0, "end": 5}, "tail": {"text": "nasopharyngeal carcinoma", "start": 93, "end": 117}}]}}, "schema": []}
{"input": "We encountered two sporadic Japanese patients with Gitelman syndrome and analyzed their TSC gene.", "output": {"entities": {"gene": [{"text": "TSC", "start": 88, "end": 91}], "disease": [{"text": "Gitelman syndrome", "start": 51, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSC", "start": 88, "end": 91}, "tail": {"text": "Gitelman syndrome", "start": 51, "end": 68}}]}}, "schema": []}
{"input": "Genes that are upregulated in sarcoma include MUC4, CD24, FOXL1, ANGPTL2, HIF1α, MDK, cMET, TIMP-2, PRL, PCSK1, IGFR-1, TIE1, KDR, TEK, FLT1 and several microRNAs.", "output": {"entities": {"gene": [{"text": "PCSK1", "start": 105, "end": 110}], "disease": [{"text": "sarcoma", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We conclude that clonal karyotypic abnormalities are frequently found in the stem cell-like (CD34 +/CD38-) and more mature (CD34 +/CD38 +) populations of patients with AML, irrespective of the phenotype of the bulk population of leukemic blasts and of the primary or secondary character of the leukemia.", "output": {"entities": {"gene": [{"text": "CD38", "start": 100, "end": 104}], "disease": [{"text": "abnormalities", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Attention-deficit/hyperactivity disorder (ADHD) comorbid with oppositional defiant disorder (ODD) or conduct disorder (CD) and substance abuse/dependence seems to represent a specific subset within the phenotypic ADHD spectrum.", "output": {"entities": {"gene": [{"text": "ODD", "start": 93, "end": 96}], "disease": [{"text": "substance abuse", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that antibodies associated with HITP react with PF4 complexed with heparin in solution or with glycosaminoglycan molecules on the surface of endothelial cells and provide the basis for a new hypothesis to explain the development of thrombocytopenia with thrombosis or disseminated intravascular coagulation in patients sensitive to heparin.", "output": {"entities": {"gene": [{"text": "PF4", "start": 72, "end": 75}], "disease": [{"text": "thrombosis", "start": 278, "end": 288}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PF4", "start": 72, "end": 75}, "tail": {"text": "thrombosis", "start": 278, "end": 288}}]}}, "schema": []}
{"input": "In contrast to the seborrhoeic keratoses and keratoacanthoma, no MSI was observed in two samples from DSP lesional epidermis examined.", "output": {"entities": {"gene": [{"text": "DSP", "start": 102, "end": 105}], "disease": [{"text": "keratoacanthoma", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Cardiac MCR mRNA and protein levels increased nearly by 80% after MI and Cap treatment normalized cardiac MCR protein and mRNA expression. Kidney MCR expression was not affected.", "output": {"entities": {"gene": [{"text": "MCR", "start": 8, "end": 11}], "disease": [{"text": "MI", "start": 66, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCR", "start": 8, "end": 11}, "tail": {"text": "MI", "start": 66, "end": 68}}]}}, "schema": []}
{"input": "These results indicate that AM protects against myocardial infarction, arrhythmia, and apoptosis in I/R injury via suppression of oxidative stress-induced Bax and p38 MAPK phosphorylation and activation of the Akt-Bad-Bcl-2 signaling pathway.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 218, "end": 223}], "disease": [{"text": "arrhythmia", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Subjects with the 5A/5A genotype had a higher mean systolic blood pressure (SBP) (+ 4. 2 mmHg) and diastolic blood pressure (DBP) (+ 2. 2 mmHg) compared to subjects with 5A/6A and 6A/6A genotypes.", "output": {"entities": {"gene": [{"text": "DBP", "start": 125, "end": 128}], "disease": [{"text": "systolic blood pressure", "start": 51, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate whether platelets from patients with AMI increase myocardial injury after ischaemia and reperfusion in isolated rat hearts and the modification of this effect by the P2Y12 receptor antagonist cangrelor and the glycoprotein IIb/IIIa receptor blocker abciximab.", "output": {"entities": {"gene": [{"text": "P2Y12", "start": 198, "end": 203}], "disease": [{"text": "ischaemia", "start": 106, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate polymorphic loci in the FATP4 gene with respect to associations with fasting and postprandial lipid and lipoprotein variables and markers of insulin resistance in 608 healthy, middle-aged Swedish men and to evaluate possible mechanisms behind any associations observed.", "output": {"entities": {"gene": [{"text": "FATP4", "start": 65, "end": 70}], "disease": [{"text": "insulin resistance", "start": 182, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "An associated dominant type 2 helper T cell bias in the immunodeficiency case provides a mechanistic explanation for recurrence of infections by pathogens met by Th1-driven responses.", "output": {"entities": {"gene": [{"text": "Th1", "start": 162, "end": 165}], "disease": [{"text": "immunodeficiency", "start": 56, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We propose the existence of SOX2-expressing ovarian CSCs as a mechanism of tumor aggressiveness and therapy resistance in human SOC.", "output": {"entities": {"gene": [{"text": "SOC", "start": 128, "end": 131}], "disease": [{"text": "aggressiveness", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "(4) To validate the results screened by proteome research, immunohistochemistry was used to validate several lung adenocarcinoma differentially expressed proteins including 14-3-3 sigma, annexin 1, and manganese superoxide dismutase.", "output": {"entities": {"gene": [{"text": "annexin 1", "start": 187, "end": 196}], "disease": [{"text": "lung adenocarcinoma", "start": 109, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "annexin 1", "start": 187, "end": 196}, "tail": {"text": "lung adenocarcinoma", "start": 109, "end": 128}}]}}, "schema": []}
{"input": "The pathogenesis of crescentic glomerulonephritis (CGN) involves cellular migration and proliferation in the urinary space, frequently followed by fibrous organization.", "output": {"entities": {"gene": [{"text": "CGN", "start": 51, "end": 54}], "disease": [{"text": "crescentic glomerulonephritis", "start": 20, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Dissociation of superoxide dismutase 1 dimers is enhanced by glutathionylation, although the dissociation constants reported to date are imprecise.", "output": {"entities": {"gene": [{"text": "superoxide dismutase 1", "start": 16, "end": 38}], "disease": [{"text": "dissociation", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Our study adds DBP to the list of potential genes that contribute to the complex genetic etiology of IBD, and further emphasizes the association between vitamin D homeostasis and intestinal inflammation.", "output": {"entities": {"gene": [{"text": "DBP", "start": 15, "end": 18}], "disease": [{"text": "inflammation", "start": 190, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis was performed on 34 osteochondroma specimens from 22 patients with sporadic lesions and 4 patients with HME utilizing standard methodologies.", "output": {"entities": {"gene": [{"text": "HME", "start": 125, "end": 128}], "disease": [{"text": "sporadic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We infected HCC cells (HepG2, Hep3B and Huh7) with an adenovirus expressing SPARC (AdsSPARC) to examine the role of SPARC expression on HCC cells and its effect on tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 12, "end": 15}], "disease": [{"text": "aggressiveness", "start": 170, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Consistent with nitrosative stress and the deamination of 5-methylcytosine, p53 mutations were also detected in sporadic colon cancer tissue and were associated with iNOS activity in these tissues.", "output": {"entities": {"gene": [{"text": "p53", "start": 76, "end": 79}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "BNP is elevated in other cardiac disease states such as the acute coronary syndromes, diastolic dysfunction, atrial fibrillation (AF), amyloidosis, restrictive cardiomyopathy (RCM), and valvular heart disease.", "output": {"entities": {"gene": [{"text": "BNP", "start": 0, "end": 3}], "disease": [{"text": "valvular heart disease", "start": 186, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we describe the clinical and molecular analysis of two multigenerational families with Best disease and correlate the optical coherence tomography (OCT) findings in asymptomatic and symptomatic subjects carrying BEST1 mutations.", "output": {"entities": {"gene": [{"text": "OCT", "start": 170, "end": 173}], "disease": [{"text": "asymptomatic", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "In hypertension induced by abdominal aorta coarctation, deficits in aortic vesicular acetylcholine transporter and α7nAChR were present both above and below the coarctation site, indicating that they were independent of the level of arterial pressure itself.", "output": {"entities": {"gene": [{"text": "vesicular acetylcholine transporter", "start": 75, "end": 110}], "disease": [{"text": "coarctation", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "This enzyme drives irreversible degradation of sphingosine 1-phosphate (S1P), a bioactive lipid associated with resistance to therapeutics in various cancers, including prostate adenocarcinoma.", "output": {"entities": {"gene": [{"text": "S1P", "start": 72, "end": 75}], "disease": [{"text": "prostate adenocarcinoma", "start": 169, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "To understand its neuroprotective effect in vitro, GM-CSF was administered to a glutamate-induced excitotoxicity neuronal injury cell culture model that mimics the pathophysiology of focal hypoxic cerebral injury.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 51, "end": 57}], "disease": [{"text": "hypoxic", "start": 189, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Antidepressant treatment response across 5-HT1A-1019C/G genotype groups showed no differences in either Major Depressive Episode or major depression between genotype groups, whereas stratification for the melancholic subtype of depression revealed a significantly worse treatment response as conferred by the-1019CC genotype (p = 0. 02).", "output": {"entities": {"gene": [{"text": "5-HT1A", "start": 41, "end": 47}], "disease": [{"text": "Major Depressive Episode", "start": 104, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1A", "start": 41, "end": 47}, "tail": {"text": "Major Depressive Episode", "start": 104, "end": 128}}]}}, "schema": []}
{"input": "Our results indicate that the GSTM1 null genotype and NAT2 intermediate or slow genotype are associated with an increased risk of urothelial cancer in relation to smoking amounts.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 54, "end": 58}], "disease": [{"text": "smoking", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial PSIS.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 8, "end": 13}], "disease": [{"text": "PSIS", "start": 119, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 8, "end": 13}, "tail": {"text": "PSIS", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "In this cross-sectional study we compared the central aortic systolic pressure (CASP), peripheral brachial systolic pressure (PSP), peripheral brachial diastolic pressure (PDP) and augmentation index (AIx) between normotensive offspring of nonhypertensive parents (ONT) and normotensive offspring with at least one hypertensive parent (OHT).", "output": {"entities": {"gene": [{"text": "CASP", "start": 80, "end": 84}], "disease": [{"text": "systolic pressure", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Transcription Factor KLF5 Binds a Cyclin E1 Polymorphic Intronic Enhancer to Confer Increased Bladder Cancer Risk.", "output": {"entities": {"gene": [{"text": "KLF5", "start": 21, "end": 25}], "disease": [{"text": "Bladder Cancer", "start": 94, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KLF5", "start": 21, "end": 25}, "tail": {"text": "Bladder Cancer", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.", "output": {"entities": {"gene": [{"text": "PTCH", "start": 11, "end": 15}], "disease": [{"text": "nevoid basal cell carcinoma syndrome", "start": 63, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTCH", "start": 11, "end": 15}, "tail": {"text": "nevoid basal cell carcinoma syndrome", "start": 63, "end": 99}}]}}, "schema": []}
{"input": "Despite a similar reduction in HbA (1c) and similar improvement in insulin sensitivity with nutritional therapy, there were no significant changes in muscle AMPK and ACC phosphorylation, or the expression of ADIPOR1, ADIPOR2, PPARGC1 and genes involved in mitochondrial function and fat oxidation.", "output": {"entities": {"gene": [{"text": "PPARGC1", "start": 226, "end": 233}], "disease": [{"text": "insulin sensitivity", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In 39 sporadic cerebellar medulloblastomas screeened for alterations in the AXIN1 gene, another component of the Wnt pathway, we found missense AXIN1 mutations in two tumours, CCC--> TCC at codon 255 (exon 1, Pro--> Ser) and TCT--> TGT at codon 263 (exon 1, Ser--> Cys).", "output": {"entities": {"gene": [{"text": "AXIN1", "start": 76, "end": 81}], "disease": [{"text": "sporadic", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 122, "end": 128}], "disease": [{"text": "cardiac hypertrophy", "start": 31, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "TAZ has been previously reported to play a role in tumorigenesis in breast cancer, but detailed analyses of the different breast cancer phenotypes have not been conducted thus far.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The whole genomic region of PRRT2 was sequenced in six Han Chinese families and 15 sporadic cases of PD-related phenotypes.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 28, "end": 33}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A striking observation from the data set was that tau binding to heat shock protein 70 (Hsp70) decreased, whereas binding to Hsp90 significantly increased.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 88, "end": 93}], "disease": [{"text": "shock", "start": 70, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Whether CDX2 has tumor suppression or tumorigenesis potential remains to be elucidated.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 8, "end": 12}], "disease": [{"text": "tumorigenesis", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In this review, we highlight the current knowledge about the role of CXCR7 in the biologic processes of cancer, including cancer growth, survival, adhesion, invasion, metastasis, angiogenesis, and progression.", "output": {"entities": {"gene": [{"text": "CXCR7", "start": 69, "end": 74}], "disease": [{"text": "adhesion", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrated that a bicistronic rAd harboring both suicide and chemokine genes in sequence exerted the enhanced, macrophage-dependent, antitumor effects in a model of HCC and support the use of this strategy for the treatment of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 181, "end": 184}], "disease": [{"text": "suicide", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We have shown that normal D-dimer levels obtained after the discontinuation of oral anticoagulant treatment (OAT) has a high negative predictive value for recurrent venous thromboembolism (VTE).", "output": {"entities": {"gene": [{"text": "OAT", "start": 109, "end": 112}], "disease": [{"text": "venous thromboembolism", "start": 165, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "A metabolic switch from GLS2 to GLS1 was observed in a series of tissues representing progressive pathologic states mimicking HCC oncogenic transformation, including normal liver, fibrotic liver, dysplasia nodule, and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 126, "end": 129}], "disease": [{"text": "nodule", "start": 206, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, L-carnitine decreased fibrinogen, FVII, FDP, PAI-1, MDA, and platelet aggregation and increased PT, aPTT, coagulation time, protein C, ATIII, and antioxidants in diabetic rats.", "output": {"entities": {"gene": [{"text": "ATIII", "start": 154, "end": 159}], "disease": [{"text": "fibrinogen", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that genetically mediated alterations in the renin gene may exert a significant influence on alcohol consumption and may be a component in the etiology of alcoholism.", "output": {"entities": {"gene": [{"text": "renin", "start": 68, "end": 73}], "disease": [{"text": "alcoholism", "start": 178, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 68, "end": 73}, "tail": {"text": "alcoholism", "start": 178, "end": 188}}]}}, "schema": []}
{"input": "Finally, ABCR-mediated retinal degeneration may result from \" poisoning \" of the RPE due to A2-E accumulation, with secondary photoreceptor degeneration due to loss of the RPE support role.", "output": {"entities": {"gene": [{"text": "RPE", "start": 81, "end": 84}], "disease": [{"text": "retinal degeneration", "start": 23, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.", "output": {"entities": {"gene": [{"text": "sarcoglycan-gamma", "start": 101, "end": 118}], "disease": [{"text": "OA", "start": 242, "end": 244}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sarcoglycan-gamma", "start": 101, "end": 118}, "tail": {"text": "OA", "start": 242, "end": 244}}]}}, "schema": []}
{"input": "TGM2 may be involved in dysfunction of the immune system in schizophrenia.", "output": {"entities": {"gene": [{"text": "TGM2", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 60, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGM2", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 60, "end": 73}}]}}, "schema": []}
{"input": "Our findings, although based on small numbers, suggest that the oxidative stress genes MPO and CAT may influence the risk of arsenic-induced premalignant hyperkeratotic skin lesions.", "output": {"entities": {"gene": [{"text": "CAT", "start": 95, "end": 98}], "disease": [{"text": "premalignant", "start": 141, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAT", "start": 95, "end": 98}, "tail": {"text": "premalignant", "start": 141, "end": 153}}]}}, "schema": []}
{"input": "Our case-control studies show that polymorphisms at the glutathione S-transferase, GSTP1, locus on chromosome 11q13 may account for variation in host response to oxidative stress, a key component of airway inflammation.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 83, "end": 88}], "disease": [{"text": "inflammation", "start": 206, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Genetic association studies have implicated the TSNAX/DISC1 (disrupted in schizophrenia 1) in schizophrenia (SCZ), bipolar affective disorder (BPAD) and major depression.", "output": {"entities": {"gene": [{"text": "TSNAX/DISC1", "start": 48, "end": 59}], "disease": [{"text": "major depression", "start": 153, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TSNAX/DISC1", "start": 48, "end": 59}, "tail": {"text": "major depression", "start": 153, "end": 169}}]}}, "schema": []}
{"input": "The purpose of this study was to investigate the role of αB crystallin in sodium iodate (NaIO3)-induced retinal degeneration, a model of AMD in which the primary site of pathology is the RPE.", "output": {"entities": {"gene": [{"text": "RPE", "start": 187, "end": 190}], "disease": [{"text": "retinal degeneration", "start": 104, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "To determine the specific receptor systems that mediate the interaction of tumor cells with insoluble TSP, the attachment of HT1080 fibrosarcoma and C32 and G361 melanoma cells to TSP-coated discs was studied in the presence of heparin, Arg-Gly-Asp-Ser, or antibodies to glycoprotein (GP) IV (CD36, GPIIIb), a TSP receptor.", "output": {"entities": {"gene": [{"text": "C32", "start": 149, "end": 152}], "disease": [{"text": "fibrosarcoma", "start": 132, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "To characterize the phenotypic patterns of differentiation in colorectal serrated polyps, we examined the immunohistochemical expression profile of gastric (MUC5AC, TFF1, MUC6, GlcNAcalpha1--> 4Gal--> R, and PDX1) and intestinal (MUC2, TFF3, and CDX2) epithelial markers in 15 hyperplastic polyps (HPs), 29 sessile serrated adenomas (SSAs), 12 traditional serrated adenomas (TSAs), and 16 conventional adenomas (CAs).", "output": {"entities": {"gene": [{"text": "PDX1", "start": 208, "end": 212}], "disease": [{"text": "polyps", "start": 82, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Between January 1991 and August 1997 twenty five patients with advanced acute myeloid (n = 19) or lymphoid (n = 6) leukemia, 11 males and 14 females, age 22 to 41 (median 32) years received MUD (n = 22) or 1-antigen mismatched unrelated donor (n = 3) grafts.", "output": {"entities": {"gene": [{"text": "MUD", "start": 190, "end": 193}], "disease": [{"text": "leukemia", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We studied the association between polymorphisms of genes coding for dopamine D (2) (DRD2), dopamine D (3) (DRD3), serotonin 2 (a) (HTR2A), and serotonin 2 (c) (HTR2C) receptors and Antipsychotic-Induced Parkinsonism (AIP), rigidity, bradykinesia, and rest-tremor in African-Caribbeans treated with antipsychotics.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 132, "end": 137}], "disease": [{"text": "tremor", "start": 257, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Data from the second interim analysis indicate that, in the subgroup of patients without co-amplification of topoisomerase 2 (TOPO-2), the arm without trastuzumab (ACT) showed a DFS significantly poorer that in the other arms; moreover, if we consider the lower toxicity of TCH regimen in comparison with anthracycline-containing arms, the innovative statements offered by BCIRG 006 trial appear evident, and these findings opened an important question about the consolidated employment of anthracyclines in adjuvant setting. The FinHer trial was a small trial testing a short course of trastuzumab (9 weeks) concomitantly with a chemotherapy including docetaxel, and there was a significant advantage in DFS for the trastuzumab based arms, without relevant toxicity and without any cardiotoxicity.", "output": {"entities": {"gene": [{"text": "ACT", "start": 164, "end": 167}], "disease": [{"text": "arms", "start": 221, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, chemerin serum level positively correlated with blood pressure, body mass index, and serum insulin and was negatively correlated with serum eNOS.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 13, "end": 21}], "disease": [{"text": "blood pressure", "start": 61, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Abnormal thymocyte development and peripheral T-cell activation in ADA-deficient and PNP-deficient patients cause increased susceptibility to infections and immune dysregulation.", "output": {"entities": {"gene": [{"text": "ADA", "start": 67, "end": 70}], "disease": [{"text": "immune dysregulation", "start": 157, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, Merit40 mutation exacerbated ICL-induced chromosome instability in the context of concomitant Brca2 deficiency but not in conjunction with Fancd2 mutation.", "output": {"entities": {"gene": [{"text": "Brca2", "start": 109, "end": 114}], "disease": [{"text": "chromosome instability", "start": 56, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarrays contained primary cancer, normal stomach, intestinal metaplasia, and gastric epithelial dysplasia and were probed with antibodies against nine potential markers that were either identified in a database of genes overexpressed in gastric adenocarcinoma or were already of interest to our laboratory: claudin-4, mitogen-activated protein kinase kinase 4 (MKK4), 14-3-3sigma (stratifin), S100A4, mesothelin, fascin, topoisomerase IIalpha, HER-2/neu, and epithelial growth factor receptor.", "output": {"entities": {"gene": [{"text": "MKK4", "start": 372, "end": 376}], "disease": [{"text": "intestinal metaplasia", "start": 61, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Methylation-specific polymerase chain reaction and sodium bisulfite sequencing of these genes show that DCC, but not MBD1, CXXC1, SMAD4 and MBD2, has promoter CpG island methylation in CRC cell lines and tissues {normal mucosa [29. 5% (18/61)], adenomas [81. 0% (47/58)] and carcinomas [82. 7% (62/75)] (P = 8. 6 x 10 (-9))} that is associated with reduced DCC expression, independent of 18q21 loss analyzed by multiplex ligation-dependent probe amplification.", "output": {"entities": {"gene": [{"text": "CXXC1", "start": 123, "end": 128}], "disease": [{"text": "carcinomas", "start": 275, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Little is known about the contribution of genetics and lipoprotein subclasses to the development of coronary artery calcification (CAC) in asymptomatic, first-degree relatives of patients with CAD.", "output": {"entities": {"gene": [{"text": "CAC", "start": 131, "end": 134}], "disease": [{"text": "coronary artery calcification", "start": 100, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Whereas the inhibition of vascular endothelial growth factor (VEGF) has shown promising results in sporadic colon cancer, the role of VEGF signaling in colitis-associated cancer (CAC) has not been addressed.", "output": {"entities": {"gene": [{"text": "CAC", "start": 179, "end": 182}], "disease": [{"text": "colon cancer", "start": 108, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the SET complex facilitates HIV-1 infection by preventing suicidal autointegration.", "output": {"entities": {"gene": [{"text": "SET", "start": 15, "end": 18}], "disease": [{"text": "suicidal", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results suggest a model where combined genetic and environmental inhibition of PI3K/mTOR signaling leads to variability within FASD.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 97, "end": 101}], "disease": [{"text": "FASD", "start": 145, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PI3K", "start": 97, "end": 101}, "tail": {"text": "FASD", "start": 145, "end": 149}}]}}, "schema": []}
{"input": "In our previous linkage study on 148 Chinese hypertensive families, the regions at or near the LPL gene were found to be associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP).", "output": {"entities": {"gene": [{"text": "DBP", "start": 197, "end": 200}], "disease": [{"text": "systolic blood pressure", "start": 137, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Since myoepithelial markers are frequently expressed in breast carcinomas with a basal-like phenotype, which are frequently occurring tumors in women with BRCA1 germline mutations, we evaluated whether CAV1 was associated with a basal-like phenotype in 509 sporadic and 47 hereditary BRCA1-/BRCA2-associated carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 291, "end": 296}], "disease": [{"text": "sporadic", "start": 257, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype.", "output": {"entities": {"gene": [{"text": "NSUN2", "start": 23, "end": 28}], "disease": [{"text": "DS", "start": 79, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NSUN2", "start": 23, "end": 28}, "tail": {"text": "DS", "start": 79, "end": 81}}]}}, "schema": []}
{"input": "Neither IL-1B-511, IL-1B + 3954 nor IL-1RN genotypes, allele or carrier frequencies showed significant association with tubal pathology or C. trachomatis post-infection-based tubal pathology.", "output": {"entities": {"gene": [{"text": "IL-1RN", "start": 36, "end": 42}], "disease": [{"text": "trachomatis", "start": 142, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The presence of a SP1/SP3-binding element in the PR1 position is absolutely required for mild hypoxia-induced activity, and it significantly up-regulates the true hypoxic induction.", "output": {"entities": {"gene": [{"text": "SP3", "start": 22, "end": 25}], "disease": [{"text": "mild", "start": 89, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "It was also found that IAP gene expression levels are increased concomitantly with translocation to the nucleus of the TNF-responsive transcription factor NF-kappaB.", "output": {"entities": {"gene": [{"text": "TNF", "start": 119, "end": 122}], "disease": [{"text": "translocation", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The cellular function of the menin tumor suppressor protein, product of the MEN1 gene mutated in familial multiple endocrine neoplasia type 1, has not been defined.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 76, "end": 80}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 106, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 76, "end": 80}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 106, "end": 141}}]}}, "schema": []}
{"input": "These results show that ERalpha and ERbeta are differentially expressed in SMC and MEC of human myometrium and fibroids.", "output": {"entities": {"gene": [{"text": "SMC", "start": 75, "end": 78}], "disease": [{"text": "fibroids", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In TNF-alpha-stimulated corneal epithelial cells, NFkappaB p65 subunit translocation to the nucleus was observed using immunofluorescence microscopy.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 3, "end": 12}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Intraperitoneal administration of GO-CoA-Tat improves glucose tolerance and reduces weight gain in wild-type mice but not in ghrelin-deficient mice, supporting the concept that its beneficial metabolic effects are due specifically to GOAT inhibition.", "output": {"entities": {"gene": [{"text": "GOAT", "start": 234, "end": 238}], "disease": [{"text": "weight gain", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "This patient suffered from acute pancreatitis, showed chylomicronemia and lacked detectable LPL activity or mass in her postheparin plasma.", "output": {"entities": {"gene": [{"text": "LPL", "start": 92, "end": 95}], "disease": [{"text": "acute pancreatitis", "start": 27, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The clinical symptomatology in the X-linked Wiskott-Aldrich syndrome (WAS), a combined immunodeficiency and autoimmune disease resulting from WAS protein (WASp) deficiency, reflects the underlying coexistence of an impaired T helper 1 (TH1) immunity alongside intact TH2 immunity.", "output": {"entities": {"gene": [{"text": "TH1", "start": 236, "end": 239}], "disease": [{"text": "immunodeficiency", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy.", "output": {"entities": {"gene": [{"text": "POMC", "start": 141, "end": 145}], "disease": [{"text": "skin pigmentation", "start": 52, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Maspin is both overexpressed in tumors and inflammation, implicating a possible role in bridging inflammation and neoplasia.", "output": {"entities": {"gene": [{"text": "Maspin", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "This novel characterization of NPM/B23 in estrogen-mediated cell proliferation may extend our understanding of the tumorigenesis of steroid hormone-related cancers.", "output": {"entities": {"gene": [{"text": "B23", "start": 35, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "PRRT2 analysis of the 32 additional probands showed mutations in 10, 8 familial and 2 sporadic, probands.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Association studies of positional candidate genes have implicated DCDC2 and KIAA0319 in DYX2, as well as C2ORF3 and MRPL19 (DYX3), whereas DYX1C1/EKN1 (DYX1) and ROBO1 (DYX5) were found to be disrupted by rare translocation breakpoints in reading-disabled individuals.", "output": {"entities": {"gene": [{"text": "MRPL19", "start": 116, "end": 122}], "disease": [{"text": "translocation", "start": 210, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.", "output": {"entities": {"gene": [{"text": "TJP2", "start": 77, "end": 81}], "disease": [{"text": "familial hypercholanemia", "start": 23, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TJP2", "start": 77, "end": 81}, "tail": {"text": "familial hypercholanemia", "start": 23, "end": 47}}]}}, "schema": []}
{"input": "In BRCA2-associated patients, who were mainly HRec-positive, the OR was higher than in sporadic patients (89% vs 38%, respectively; P = 0. 02), whereas the median PFS was not significantly different (7. 1 vs 5. 7 months, respectively).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 3, "end": 8}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Therefore, disruption of HGF/c-MET signaling is a potential targeted approach to treating metastatic bone disease.", "output": {"entities": {"gene": [{"text": "MET", "start": 31, "end": 34}], "disease": [{"text": "bone disease", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "RNA for cDNA probe synthesis was isolated from reflected human amnion and choriodecidua membranes delivered following Caesarean section at term before the onset of labour (TNL, n = 4), spontaneous labour at term (TSL, n = 4), and PTL with and without chorioamnionitis (PTL (+ INF) and PTL (-INF) respectively, n = 4 each).", "output": {"entities": {"gene": [{"text": "PTL", "start": 230, "end": 233}], "disease": [{"text": "chorioamnionitis", "start": 251, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "The effect of the simultaneous administration of indomethacin (a preferential inhibitor of cyclooxygenase-1; COX-1) or celecoxib (a relatively selective inhibitor of cyclooxygenase-2; COX-2), with selective antagonists of bradykinin (2) (B (2)) bradykinin (1) (B (1)) receptors (HOE 140 or des-Arg (10)-HOE 140) on the alleviation of diabetic and toxic neuropathic pain was investigated.", "output": {"entities": {"gene": [{"text": "cyclooxygenase-1", "start": 91, "end": 107}], "disease": [{"text": "neuropathic pain", "start": 353, "end": 369}]}, "relations": {}}, "schema": []}
{"input": "Oxidative stress-mediated thrombospondin-2 upregulation impairs bone marrow-derived angiogenic cell function in diabetes mellitus.", "output": {"entities": {"gene": [{"text": "thrombospondin-2", "start": 26, "end": 42}], "disease": [{"text": "diabetes mellitus", "start": 112, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thrombospondin-2", "start": 26, "end": 42}, "tail": {"text": "diabetes mellitus", "start": 112, "end": 129}}]}}, "schema": []}
{"input": "Nortriptyline plasma levels and clinical response in patients with familial pure unipolar depression and blunted TRH tests.", "output": {"entities": {"gene": [{"text": "TRH", "start": 113, "end": 116}], "disease": [{"text": "unipolar depression", "start": 81, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 113, "end": 116}, "tail": {"text": "unipolar depression", "start": 81, "end": 100}}]}}, "schema": []}
{"input": "Dysregulation of β-catenin and the transcriptional activator FOXM1 mediate oncogenesis, but it is not clear how these proteins become dysregulated in tumors that do not typically carry mutations in adenomatous polyposis coli (APC) or β-catenin, such as pancreatic ductal adenocarcinomas (PDACs).", "output": {"entities": {"gene": [{"text": "FOXM1", "start": 61, "end": 66}], "disease": [{"text": "adenomatous polyposis coli", "start": 198, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "The t10, c12-CLA isomer was more effective than c9, t11-CLA in inhibiting cell proliferation of MCF-7 breast cancer cells and enhancing the accumulation of p53 and pRb.", "output": {"entities": {"gene": [{"text": "t11", "start": 52, "end": 55}], "disease": [{"text": "breast cancer", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Indeed, inducible expression, under control of a tetracycline-regulated promoter, of D404G-TbetaRII in TGF-beta-sensitive Mac-1 cells as well as in Hep3B hepatoma cells results in resistance to TGF-beta and disappearance of cell surface TbetaRI and TbetaRII.", "output": {"entities": {"gene": [{"text": "Mac-1", "start": 122, "end": 127}], "disease": [{"text": "hepatoma", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.", "output": {"entities": {"gene": [{"text": "L-FABP", "start": 505, "end": 511}], "disease": [{"text": "CRF", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "L-FABP", "start": 505, "end": 511}, "tail": {"text": "CRF", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Consistently, hypoxia induced both AP-1 and NF-kappaB activity.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 35, "end": 39}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to explore whether abnormalities in SERT might be present in healthy individuals with familial predisposition to mood disorder.", "output": {"entities": {"gene": [{"text": "SERT", "start": 62, "end": 66}], "disease": [{"text": "abnormalities", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The concentrations of fibrinogen (Fb) and the activities of factor VII (F VIIC) and antithrombin III (AT III) both in men less than 55 years old with a history of myocardial infarction (MI) and with normolipemia (MI-NLP) or hyperlipoproteinemia (MI-HLP) and in their sons have been measured.", "output": {"entities": {"gene": [{"text": "NLP", "start": 216, "end": 219}], "disease": [{"text": "hyperlipoproteinemia", "start": 224, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.", "output": {"entities": {"gene": [{"text": "ACHE", "start": 54, "end": 58}], "disease": [{"text": "breast cancer", "start": 160, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACHE", "start": 54, "end": 58}, "tail": {"text": "breast cancer", "start": 160, "end": 173}}]}}, "schema": []}
{"input": "Mortality was particularly raised from diabetes (SMR, 5. 8; 95% CI, 3. 4-9. 3), epilepsy (SMR, 7. 2; 95% CI, 3. 1-14. 1), pulmonary embolism (SMR, 5. 7; 95% CI, 2. 5-11. 3), peripheral vascular disease (SMR, 7. 9; 95% CI, 2. 9-17. 2), vascular insufficiency of the intestine (SMR, 12. 3; 95% CI, 4. 0-28. 8), renal disease (SMR, 5. 0; 95% CI, 2. 0-10. 3), and femoral fracture (SMR, 39. 4; 95% CI, 4. 8-142. 3).", "output": {"entities": {"gene": [{"text": "SMR", "start": 49, "end": 52}], "disease": [{"text": "diabetes", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Additional studies of ALAD, Pb, and prostate cancer are warranted and should include black men. Prostate 74: 637-646, 2014. & #169; 2014 Wiley Periodicals, Inc.", "output": {"entities": {"gene": [{"text": "ALAD", "start": 22, "end": 26}], "disease": [{"text": "prostate cancer", "start": 36, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALAD", "start": 22, "end": 26}, "tail": {"text": "prostate cancer", "start": 36, "end": 51}}]}}, "schema": []}
{"input": "The neuropathological diagnosis of PDD + AD correlated with an older age of PD onset (p = 0. 001; OR, 1. 12; 95% CI, 1. 04-1. 21), higher CLB/LN burden (p = 0. 037; OR, 2. 48; 95% CI, 1. 06-5. 82), and cerebral amyloid angiopathy severity (p = 0. 032; OR, 4. 16; 95% CI, 1. 13-15. 30).", "output": {"entities": {"gene": [{"text": "CLB", "start": 138, "end": 141}], "disease": [{"text": "cerebral amyloid angiopathy", "start": 202, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "By immunohistochemistry, 75% of esophageal carcinomas showed evidence of cyclin D1 expression.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 73, "end": 82}], "disease": [{"text": "esophageal", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Glucose metabolism, insulin sensitivity, and gene expression of key adipocyte genes, including adiponectin, interleukin 6 (Il6), 11 beta-hydroxysteroid dehydrogenase (11beta Hsd), peroxisome proliferator-activated receptor gamma (Ppar gamma), forkhead box O1 (Foxo1), glucose transporter 4 (Glut4), CCAAT/enhancer binding protein (C/ebp alpha), and fatty acid synthase (Fasn) were characterized in adipocytes from epididymal and subcutaneous fat depots of 28-week-old male WOKW rats and Dark Agouti (DA) controls.", "output": {"entities": {"gene": [{"text": "Il6", "start": 123, "end": 126}], "disease": [{"text": "insulin sensitivity", "start": 20, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In summary, CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans; however, the mechanism by which these mutations lead to both JBTS and JATD remains unknown.", "output": {"entities": {"gene": [{"text": "CSPP1", "start": 12, "end": 17}], "disease": [{"text": "JBTS", "start": 149, "end": 153}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSPP1", "start": 12, "end": 17}, "tail": {"text": "JBTS", "start": 149, "end": 153}}]}}, "schema": []}
{"input": "Electron beam computed tomography is an accurate, noninvasive method to detect and quantify coronary artery calcification (CAC), a marker of subclinical and clinical coronary artery atherosclerosis.", "output": {"entities": {"gene": [{"text": "CAC", "start": 123, "end": 126}], "disease": [{"text": "coronary artery calcification", "start": 92, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We concluded that autoimmune diabetes with onset during pregnancy is associated with the type 1 diabetes-associated genotypes and also with MICA5. 0/5. 1, whereas DR7-DQ2/y, DR9-DQ9/y, DR14-DQ5/y, and MICA5. 0/z are risk factors for nonautoimmune GDM.", "output": {"entities": {"gene": [{"text": "DQ2", "start": 167, "end": 170}], "disease": [{"text": "autoimmune diabetes", "start": 18, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "TGFR-β2-875 G/G genotype is a risk factor for BAVM, and the IL-17A-197 G/A and TGFR-β2-875 A/G genotype is closely related to hemorrhage risk for patients with BAVM.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 60, "end": 66}], "disease": [{"text": "hemorrhage", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.", "output": {"entities": {"gene": [{"text": "PTPN22", "start": 78, "end": 84}], "disease": [{"text": "SLE", "start": 96, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTPN22", "start": 78, "end": 84}, "tail": {"text": "SLE", "start": 96, "end": 99}}]}}, "schema": []}
{"input": "We describe our findings with a new set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and directly show the translocation as juxtaposed red-green signals on der (22) in nuclei extracted from formalin-fixed, paraffm-embedded tissues.", "output": {"entities": {"gene": [{"text": "EWS", "start": 74, "end": 77}], "disease": [{"text": "translocation", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "More than 2, 500 sera from patients with connective tissue disease (including myositis and ILD) and controls were examined for anti-AsnRS autoantibodies by immunoprecipitation (IP).", "output": {"entities": {"gene": [{"text": "AsnRS", "start": 132, "end": 137}], "disease": [{"text": "myositis", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The levels of gp130 activators (IL-6, IL-11, LIF) were analyzed by ELISA in plasma and mucosa of patients with gastric adenocarcinoma.", "output": {"entities": {"gene": [{"text": "LIF", "start": 45, "end": 48}], "disease": [{"text": "gastric adenocarcinoma", "start": 111, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B).", "output": {"entities": {"gene": [{"text": "AP3B1", "start": 175, "end": 180}], "disease": [{"text": "congenital neutropenia", "start": 22, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We sequenced the complete MC4R coding region, the region of the proopiomelanocortin gene (POMC) encoding the alpha melanocyte-stimulating hormone, and the leptin-binding domain of LEPR in 469 severely obese white subjects (370 women and 99 men; mean [+/-SE] age, 41. 0 +/-0. 5 years; body-mass index [the weight in kilograms divided by the square of the height in meters], 44. 1 +/-2. 0).", "output": {"entities": {"gene": [{"text": "LEPR", "start": 180, "end": 184}], "disease": [{"text": "height", "start": 354, "end": 360}]}, "relations": {}}, "schema": []}
{"input": "We identified the R148S variant in ACTG2 as a cause of FVM in one family.", "output": {"entities": {"gene": [{"text": "ACTG2", "start": 35, "end": 40}], "disease": [{"text": "FVM", "start": 55, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTG2", "start": 35, "end": 40}, "tail": {"text": "FVM", "start": 55, "end": 58}}]}}, "schema": []}
{"input": "beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of beta-mannosidase.", "output": {"entities": {"gene": [{"text": "beta-mannosidase", "start": 74, "end": 90}], "disease": [{"text": "beta-Mannosidosis", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-mannosidase", "start": 74, "end": 90}, "tail": {"text": "beta-Mannosidosis", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "We previously have shown the aberrant overexpression of stratifin (SFN, 14-3-3 ς) in lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "14-3-3", "start": 72, "end": 78}], "disease": [{"text": "lung adenocarcinoma", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The treatment of PCa cells with CDF, a novel Curcumin-derived synthetic analogue previously showed anti-tumor activity in vivo, inhibited the productions of VEGF and IL-6, and down-regulated the expression of Nanog, Oct4, EZH2 mRNAs, as well as miR-21 under hypoxic condition.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 245, "end": 251}], "disease": [{"text": "hypoxic", "start": 258, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "To address this question, this study was carried out in order to determine the frequencies of the SDF1 polymorphism and the SDF1-3' A allele on 1061 genomic DNA samples purified from peripheral blood cells of 136 healthy individuals (group 1), 147 HIV-1-exposed seronegative individuals (group 2), 161 HIV-1-infected asymptomatic individuals and with CD4 (+) T-cells count 350 mm (-3) (group 3), and 617 HIV-1-infected individuals with AIDS and/or CD4 (+) T-cells count < 350 mm (-3) (group 4).", "output": {"entities": {"gene": [{"text": "SDF1", "start": 98, "end": 102}], "disease": [{"text": "asymptomatic", "start": 317, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "A gene coding a similar protein (CLPMT1) has been implicated in CLP etiology both through linkage studies and by a translocation disrupting the gene, indicating the possible involvement of CLPTM1L with CL/P.", "output": {"entities": {"gene": [{"text": "CLPTM1L", "start": 189, "end": 196}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We provide data, which document that unlike nevi and melanoma in situ, primary and metastatic melanomas express high levels of CDK2, CDK1, and CDK5.", "output": {"entities": {"gene": [{"text": "CDK5", "start": 143, "end": 147}], "disease": [{"text": "nevi", "start": 44, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We report that under normoxic conditions, ET (B) R activation by ET-1/ET-3 enhances vascular endothelial growth factor (VEGF) up-regulation, cyclooxygenase (COX)-1/COX-2 protein expression and COX-2 promoter activity, prostaglandin E (2) (PGE (2)) production, and do so to a greater extent under hypoxia.", "output": {"entities": {"gene": [{"text": "COX", "start": 157, "end": 160}], "disease": [{"text": "hypoxia", "start": 296, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.", "output": {"entities": {"gene": [{"text": "IFN", "start": 76, "end": 79}], "disease": [{"text": "edema", "start": 219, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "This points to a molecular aetiology of primary cutaneous ALC lymphomas and LyP distinct from that of extracutaneous CD30 + lymphoproliferative disease.", "output": {"entities": {"gene": [{"text": "ALC", "start": 58, "end": 61}], "disease": [{"text": "lymphoproliferative disease", "start": 124, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Parameters were correlated with markers of systemic inflammation (C-reactive protein [CRP]) and insulin resistance (homeostatis model assessment of insulin resistance [HOMA-IR]).", "output": {"entities": {"gene": [{"text": "CRP", "start": 86, "end": 89}], "disease": [{"text": "insulin resistance", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "A multifactorial likelihood model for classification of unclassified variants in BRCA1 and BRCA2 has previously been developed, which uses data on co-occurrence of the unclassified variant with pathogenic mutations in the same gene, cosegregation of the unclassified variant with affected status, and Grantham analysis of the fit between the missense substitution and the evolutionary range of variation observed at its position in the protein.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 81, "end": 86}], "disease": [{"text": "fit", "start": 326, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.", "output": {"entities": {"gene": [{"text": "PXR", "start": 8, "end": 11}], "disease": [{"text": "metabolic syndrome", "start": 85, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PXR", "start": 8, "end": 11}, "tail": {"text": "metabolic syndrome", "start": 85, "end": 103}}]}}, "schema": []}
{"input": "Together, these data suggest that loss of CDKN2B promotes atherosclerosis by increasing the size and complexity of the lipid-laden necrotic core through impaired efferocytosis.", "output": {"entities": {"gene": [{"text": "CDKN2B", "start": 42, "end": 48}], "disease": [{"text": "necrotic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "One hundred and fourteen cases of epithelial neoplasms, including seborrheic keratosis (SEB), basal cell carcinomas (BCCs), solar keratosis (SK), Bowen' s disease (BD), and squamous cell carcinomas (SCCs) were examined using argyrophilic nucleolar organizer region (AgNOR) staining.", "output": {"entities": {"gene": [{"text": "SEB", "start": 88, "end": 91}], "disease": [{"text": "epithelial neoplasms", "start": 34, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009).", "output": {"entities": {"gene": [{"text": "MIM", "start": 194, "end": 197}], "disease": [{"text": "nephrocalcinosis", "start": 128, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Cold-inducible RNA-binding protein (CIRP) is a newly discovered proinflammatory mediator that can be released into the circulation during hemorrhage or septic shock.", "output": {"entities": {"gene": [{"text": "CIRP", "start": 36, "end": 40}], "disease": [{"text": "hemorrhage", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Thus, GPIbalpha contributes to arterial thrombosis by important adhesion mechanisms independent of the binding to VWF.", "output": {"entities": {"gene": [{"text": "GPIbalpha", "start": 6, "end": 15}], "disease": [{"text": "arterial thrombosis", "start": 31, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Prognostic significance of pre B cell leukemia transcription factor 2 (PBX2) expression in non-small cell lung carcinoma.", "output": {"entities": {"gene": [{"text": "transcription factor 2", "start": 47, "end": 69}], "disease": [{"text": "non-small cell lung carcinoma", "start": 91, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "It is hereby concluded that 3p25 aneusomy or PAX8-PPARG translocation may play an important role in the molecular pathogenesis of follicular thyroid tumors.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 50, "end": 55}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "This study investigated whether cinacalcet and NPS-2143 may rectify Ca (2 +) i alterations associated with FHH2-and ADH2-causing Gα11 mutations, and evaluated the influence of germline gain-of-function Gα11 mutations on MAPK signaling by measuring ERK phosphorylation, and assessed the effect of NPS-2143 on a uveal melanoma Gα11 mutant.", "output": {"entities": {"gene": [{"text": "ERK", "start": 248, "end": 251}], "disease": [{"text": "uveal melanoma", "start": 310, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "The convulsions induced by isoniazid (INH) were very resistant to both caerulein and diazepam; CCK-8 was not tested against isoniazid.", "output": {"entities": {"gene": [{"text": "CCK", "start": 95, "end": 98}], "disease": [{"text": "convulsions", "start": 4, "end": 15}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CCK", "start": 95, "end": 98}, "tail": {"text": "convulsions", "start": 4, "end": 15}}]}}, "schema": []}
{"input": "To determine whether this loss influences the neoplastic behavior of cervical carcinoma cells, we have constructed HeLa cell lines in which Cx43 expression can be induced in response to doxycycline.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 140, "end": 144}], "disease": [{"text": "cervical carcinoma", "start": 69, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 29, "end": 33}], "disease": [{"text": "Proteus-like syndrome", "start": 62, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 29, "end": 33}, "tail": {"text": "Proteus-like syndrome", "start": 62, "end": 83}}]}}, "schema": []}
{"input": "In conclusion, our data suggest that the ACE allelic variant is not a susceptibility factor in sporadic and familial AD (FAD), nor does it mitigate the effect of the APOE epsilon4 allele in the risk of developing AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 121, "end": 124}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Pituitary weight and serum insulin-like growth factor (IGF)-1 level were also reduced in the mutant.", "output": {"entities": {"gene": [{"text": "IGF", "start": 55, "end": 58}], "disease": [{"text": "weight", "start": 10, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "cIAP1 was positive in all precursor B-cell lymphoblastic lymphoma/leukemia (LBL) and nodal marginal zone B-cell lymphoma (MZL), over 90% of follicular lymphoma and diffuse large B-cell lymphoma (DLBCL), and approximately 50% to 60% of myeloma, Burkitt lymphoma (BL), lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM), small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL), extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue (MALT-lymphoma), splenic MZL, and mantle cell lymphoma.", "output": {"entities": {"gene": [{"text": "LPL", "start": 325, "end": 328}], "disease": [{"text": "follicular lymphoma", "start": 140, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Sarcomere protein myosin binding protein C is functionally related to cardiac diastolic function and hypertrophy.", "output": {"entities": {"gene": [{"text": "protein C", "start": 33, "end": 42}], "disease": [{"text": "hypertrophy", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "TPH2 variants have been consistently associated with anxiety-related traits; since anxiety is critical for alcohol dependence treatment, in the present paper we investigated 9 SNPs within the THP2 gene in anxiety symptoms during the detoxification procedure.", "output": {"entities": {"gene": [{"text": "THP2", "start": 192, "end": 196}], "disease": [{"text": "alcohol dependence", "start": 107, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "THP2", "start": 192, "end": 196}, "tail": {"text": "alcohol dependence", "start": 107, "end": 125}}]}}, "schema": []}
{"input": "The aim of this study was to confirm the association between LITAF and obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "LITAF", "start": 61, "end": 66}], "disease": [{"text": "insulin resistance", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "MATERIALS AND METHODS: Genotyping of p. P47S, p. R72P, PIN3 ins16bp, p. R213R and r. 13494g > a polymorphisms of TP53 in 136 sporadic EC patients and 136 controls using polymerase chain reaction and PCR-RFLP.", "output": {"entities": {"gene": [{"text": "TP53", "start": 113, "end": 117}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection.", "output": {"entities": {"gene": [{"text": "CD70", "start": 10, "end": 14}], "disease": [{"text": "CD70 deficiency", "start": 10, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD70", "start": 10, "end": 14}, "tail": {"text": "CD70 deficiency", "start": 10, "end": 25}}]}}, "schema": []}
{"input": "Therefore, this disease belongs to the new WHO category of myeloid and lymphoid neoplasms with abnormalities in PDGFRA, PDGFRB and FGFR1 genes.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 112, "end": 118}], "disease": [{"text": "abnormalities", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Cysteine-rich 61 (Cyr61) is a member of the CCN protein family that has been implicated in diverse biological processes such as cell adhesion, proliferation, angiogenesis, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 18, "end": 23}], "disease": [{"text": "tumorigenesis", "start": 176, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "In classification and regression tree analysis, combinations of GSTM1 present, CYP1A12C AA or GG, EPHX1 exon3 TC, and EPHX1 exon4 AA or GG genotype strongly enhanced the risk of AML (OR = 5. 89; 95% CI = 1. 40-26. 62; P = 0. 01).", "output": {"entities": {"gene": [{"text": "EPHX1", "start": 98, "end": 103}], "disease": [{"text": "regression", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "AIM: Women who developed vestibulodynia (vulvar vestibulitis) while taking combined hormonal contraceptives (CHCs) and a control group of women were tested for polymorphisms of the gene coding for the androgen receptor (AR) that is located on the X chromosome.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "vulvar vestibulitis", "start": 41, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Twenty CP natives, examined in CP, were rated using a chronic mountain sickness (CMS) score to separate controls (10) from those with CMS (10), a maladaptation syndrome in natives to altitude which includes severe, recurring headache.", "output": {"entities": {"gene": [{"text": "CMS", "start": 81, "end": 84}], "disease": [{"text": "headache", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "In this study we investigate the association of A313G and C341T GSTP1 polymorphisms, GSTM1 and GSTT1 null genotypes in the head and neck cancer development, interactions between these polymorphisms, the tumor histopathologic parameters and risk factors (smoking and drinking) were also evaluated in the case-control study.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 64, "end": 69}], "disease": [{"text": "drinking", "start": 266, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "In this study, we identified by whole-exome sequencing the somatic mutation p. S54L in the PRKACB gene, encoding the catalytic subunit & #946; (C & #946;) of PKA, in a CPA from a patient with severe Cushing syndrome.", "output": {"entities": {"gene": [{"text": "PRKACB", "start": 91, "end": 97}], "disease": [{"text": "Cushing syndrome", "start": 199, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRKACB", "start": 91, "end": 97}, "tail": {"text": "Cushing syndrome", "start": 199, "end": 215}}]}}, "schema": []}
{"input": "Moreover, Flavopiridol (CDK9 inhibitor) could inhibit THP-1 cell (monocytic acute leukemia cell line) proliferation by targeting CDK9.", "output": {"entities": {"gene": [{"text": "CDK9", "start": 24, "end": 28}], "disease": [{"text": "acute leukemia", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC.", "output": {"entities": {"gene": [{"text": "PGR", "start": 126, "end": 129}], "disease": [{"text": "body mass index", "start": 215, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "The larger obese/lean rats ratio of LPL and ACS parameters in abdominal subcutaneous fat than mesenteric fat may be related to the observation that the increase of subcutaneous fat weight was larger than that of mesenteric fat weight in fatty rats (21. 1-vs 4. 9-fold).", "output": {"entities": {"gene": [{"text": "LPL", "start": 36, "end": 39}], "disease": [{"text": "weight", "start": 181, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We compared radiosensitivity in a \" single-hit \" cell line with TP53 mutation converted to \" double-hit \" using RNA interference targeting FHIT.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 139, "end": 143}], "disease": [{"text": "hit", "start": 43, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Clinical features typically associated with Sotos syndrome were not found to be significantly different between individuals with and without NSD1 abnormalities.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 141, "end": 145}], "disease": [{"text": "abnormalities", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we revealed that the extent of endogenous HGF up-regulation was less than that of c-Met, an HGF receptor, during the acute phase of SCI and administered exogenous HGF into injured spinal cord using a replication-incompetent herpes simplex virous-1 (HSV-1) vector to determine whether HGF exerts beneficial effects and promotes functional recovery after SCI.", "output": {"entities": {"gene": [{"text": "HGF", "start": 64, "end": 67}], "disease": [{"text": "herpes simplex", "start": 246, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "The results show that H (2) promoted 2-[(14) C]-deoxy-d-glucose (2-DG) uptake into C2C12 cells via the translocation of glucose transporter Glut4 through activation of phosphatidylinositol-3-OH kinase (PI3K), protein kinase C (PKC), and AMP-activated protein kinase (AMPK), although it did not stimulate the translocation of Glut2 in Hep G2 cells.", "output": {"entities": {"gene": [{"text": "Glut2", "start": 325, "end": 330}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether cells of mesenchymal origin acquire embryonic phenotypes, we generated human cells of mesodermal origin with overexpression of the chimeric OCT4/3 gene with physiological co-activator EWS (product of the EWSR1 gene), which is driven by the potent EWS promoter by translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 207, "end": 210}], "disease": [{"text": "translocation", "start": 286, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Chronic beryllium disease (CBD) is a hypersensitivity granulomatosis characterized by beryllium hypersensitivity (BH) and mediated by CD4 + T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 134, "end": 137}], "disease": [{"text": "hypersensitivity", "start": 37, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "ST3/MMP11 protein expression was observed in 45/79 (57%) precancerous lesions [28/48 (58%) with hyperplasia and 17/31 (55%) with dysplasia] and in 123/177 (70%) oral SCCs.", "output": {"entities": {"gene": [{"text": "MMP11", "start": 4, "end": 9}], "disease": [{"text": "hyperplasia", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "There was no statistically significant evidence of multiplicative interactions between any pair of genotypes based on CYP2E1 RsaI, CYP2E1 DraI, GSTP1, GSTM1, or GSTT1; nor between Helicobacter pylori status and any of these five loci; nor between smoking status and GSTP1, GSTM1, or GSTT1; nor between alcohol consumption and ALDH2.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 144, "end": 149}], "disease": [{"text": "alcohol consumption", "start": 302, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "Consistent with this, Sup5T4 compared with Sup cells show increased invasion in vitro concordant with increased LFA-1 and VLA-4 integrin expression, adhesion to extracellular matrix and secretion of matrix metalloproteases (MMP-2/-9).", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 112, "end": 117}], "disease": [{"text": "adhesion", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women.", "output": {"entities": {"gene": [{"text": "WNT4", "start": 13, "end": 17}], "disease": [{"text": "abnormalities", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The patient and the patient' s asymptomatic family members underwent genetic screening of the three genes most frequently associated with LQTS: KCNQ1, KCNH2, and SCN5A.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 144, "end": 149}], "disease": [{"text": "asymptomatic", "start": 31, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "These findings showed that the advantage in tumor growth depended upon the MTATP6 function but was not due to secondary nuclear mutations caused by the mutant mitochondria.", "output": {"entities": {"gene": [{"text": "MTATP6", "start": 75, "end": 81}], "disease": [{"text": "secondary", "start": 110, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our data suggest involvement of GAL3 receptors in GAL-mediated effects on mood, anxiety, and behavior, making it a possible target for alternative treatment strategies for mood disorders.", "output": {"entities": {"gene": [{"text": "GAL", "start": 47, "end": 50}], "disease": [{"text": "mood disorders", "start": 187, "end": 201}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAL", "start": 47, "end": 50}, "tail": {"text": "mood disorders", "start": 187, "end": 201}}]}}, "schema": []}
{"input": "This review will summarize the studies on the MC4R, from its cloning and tissue distribution to its physiological roles in regulating energy homeostasis, cachexia, cardiovascular function, glucose and lipid homeostasis, reproduction and sexual function, drug abuse, pain perception, brain inflammation, and anxiety.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 46, "end": 50}], "disease": [{"text": "brain inflammation", "start": 283, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "We first carried out a preliminary array screen of pooled RNA, and then used RT-PCR to quantify five mRNAs which the array identified as differentially expressed in schizophrenia (myelin basic protein [MBP], myelin-oligodendrocyte glycoprotein [MOG], & #946;-actin [ACTB], thymosin & #946;-10 [TB10], and superior cervical ganglion-10 [SCG10]).", "output": {"entities": {"gene": [{"text": "TB10", "start": 294, "end": 298}], "disease": [{"text": "schizophrenia", "start": 165, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TB10", "start": 294, "end": 298}, "tail": {"text": "schizophrenia", "start": 165, "end": 178}}]}}, "schema": []}
{"input": "Therefore, combining IDO inhibition with standard TMZ treatment could be an encouraging therapeutic strategy for patients with malignant glioma.", "output": {"entities": {"gene": [{"text": "IDO", "start": 21, "end": 24}], "disease": [{"text": "malignant glioma", "start": 127, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In the 2 remaining individuals with sporadic PKD, PRRT2 mutations were not detected.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 50, "end": 55}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Our results reveal that cluster 1 tumors display a marked increase in both vascularization and in the expression of major angiogenic molecules, including VEGF, its receptors, HIF2α, Angiopoietin-2, and the endothelin receptors ETA and ETB.", "output": {"entities": {"gene": [{"text": "ETB", "start": 235, "end": 238}], "disease": [{"text": "vascularization", "start": 75, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "CD36-/-mice express reduced levels of COX2 and VEGF in vivo, and COX2-/-mice develop progressive choroidal degeneration similar to what is seen in CD36 deficiency.", "output": {"entities": {"gene": [{"text": "CD36", "start": 0, "end": 4}], "disease": [{"text": "choroidal degeneration", "start": 97, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The up-regulation of CD44 and LFA-1 at different times in the development of AIA suggests an important role for these adhesion molecules in establishing and sustaining an inflammatory response in the AIA joint.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 30, "end": 35}], "disease": [{"text": "adhesion", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A statistically significant effect was seen for SULT1A2 genotype on a 24DNT Hb-adduct; GSTP1 genotype on a 2, 4, 6-trinitrotoluene Hb-adduct; and SULT1A1, SULT1A2, NAT1, GSTT1, and GSTP1 genotypes on chromosomal aberrations in the exposed workers.", "output": {"entities": {"gene": [{"text": "NAT1", "start": 164, "end": 168}], "disease": [{"text": "chromosomal aberrations", "start": 200, "end": 223}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NAT1", "start": 164, "end": 168}, "tail": {"text": "chromosomal aberrations", "start": 200, "end": 223}}]}}, "schema": []}
{"input": "Patients with cystic fibrosis and unexplained upper abdominal pain should be screened for pancreatitis, and consideration should be given to screening patients with idiopathic pancreatitis for mutations in the CFTR gene.", "output": {"entities": {"gene": [{"text": "CFTR gene", "start": 210, "end": 219}], "disease": [{"text": "upper abdominal pain", "start": 46, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c. 419C > G (p. Ser140Cys), and the rare substitution c. 1098C > A (p. Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state.", "output": {"entities": {"gene": [{"text": "TSPYL1", "start": 148, "end": 154}], "disease": [{"text": "infertile", "start": 62, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that gene therapy with human tissue kallikrein may have potential as a treatment for hypertension and associated insulin resistance.", "output": {"entities": {"gene": [{"text": "tissue kallikrein", "start": 51, "end": 68}], "disease": [{"text": "hypertension", "start": 107, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tissue kallikrein", "start": 51, "end": 68}, "tail": {"text": "hypertension", "start": 107, "end": 119}}]}}, "schema": []}
{"input": "We now document the ability of tetrapeptide-based inhibitors of interleukin 1beta-converting enzyme (ICE)-like caspase 1 and cysteine protease protein (CPP)-32-like caspase 3, two members of a novel class of cysteine proteases involved in final pathways to apoptosis, to block TTP/sporadic HUS plasma-mediated apoptosis.", "output": {"entities": {"gene": [{"text": "caspase 1", "start": 111, "end": 120}], "disease": [{"text": "sporadic", "start": 281, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "To gain insights into the molecular mechanisms underlying the leukemogenesis of NUP98-HOX fusion products, we cloned NUP98-PMX1 from a CML-blast crisis patient with t (1; 11) as a secondary chromosomal translocation, and functionally studied the fusion products in detail through various molecular and protein biochemical assays.", "output": {"entities": {"gene": [{"text": "PMX1", "start": 123, "end": 127}], "disease": [{"text": "blast crisis", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Expression of elastin, decorin, lumican and the extracellular matrix remodeling factor TIMP3 were reduced in facioscapulohumeral muscular dystrophy myoblasts.", "output": {"entities": {"gene": [{"text": "lumican", "start": 32, "end": 39}], "disease": [{"text": "facioscapulohumeral muscular dystrophy", "start": 109, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "lumican", "start": 32, "end": 39}, "tail": {"text": "facioscapulohumeral muscular dystrophy", "start": 109, "end": 147}}]}}, "schema": []}
{"input": "A correlation between CD13/CD33 positivity and the t (12; 21) translocation was uniformly observed in B-ALL patients for a positive threshold of 30%, whereas SJ1D1/D3HL60 detected no correlation between t (12; 21) and CD13/CD33 positivity when the threshold was lowered to 20%.", "output": {"entities": {"gene": [{"text": "CD13", "start": 22, "end": 26}], "disease": [{"text": "translocation", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Notably, we found a possible modifying effect of patient' s body mass index (BMI) on tumor TP53.", "output": {"entities": {"gene": [{"text": "TP53", "start": 91, "end": 95}], "disease": [{"text": "body mass index", "start": 60, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Chromosome analysis of the bone marrow showed 49, XX, der (1; 7) (q10; p10), + 8, + 19, + 21 in therapy-related myelodysplastic syndrome with additional chromosomes 8, and 12 and two additional chromosomes 21 in acute leukemia.", "output": {"entities": {"gene": [{"text": "p10", "start": 71, "end": 74}], "disease": [{"text": "acute leukemia", "start": 212, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "In 2008, the WHO introduced a new entity called \" Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 \", which are characterized by the formation of a fusion gene encoding an aberrant tyrosine kinase.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 120, "end": 126}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The Kir5. 1 (-/-) mice displayed hypokalemic, hyperchloremic metabolic acidosis with hypercalciuria.", "output": {"entities": {"gene": [{"text": "Kir5. 1", "start": 4, "end": 11}], "disease": [{"text": "hyperchloremic metabolic acidosis", "start": 46, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The translocation t (8; 16) (p11; p13) is associated with a subtype of acute monocytic leukemia (AML M5) characterized morphologically by erythrophagocytosis and clinically by a poor prognosis.", "output": {"entities": {"gene": [{"text": "p11", "start": 29, "end": 32}], "disease": [{"text": "acute monocytic leukemia", "start": 71, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of GPx3 in prostate cancer cell lines induced the suppression of colony formation and anchorage-independent growth of PC3, LNCaP, and Du145 cells.", "output": {"entities": {"gene": [{"text": "GPx3", "start": 18, "end": 22}], "disease": [{"text": "prostate cancer", "start": 26, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPx3", "start": 18, "end": 22}, "tail": {"text": "prostate cancer", "start": 26, "end": 41}}]}}, "schema": []}
{"input": "CCL2 gene silencing in PyVmT carcinoma cells or BT474 luminal B breast cancer cells decreased cell growth and viability associated with increased necrosis and autophagy.", "output": {"entities": {"gene": [{"text": "CCL2 gene", "start": 0, "end": 9}], "disease": [{"text": "necrosis", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The familial cancers were immunonegative for membranous Na +/H + exchanger regulatory factor 1 expression compared with sporadic cancers (P =. 001); notably, vascular endothelial growth factor receptor 1 staining correlated with cytoplasmic Na +/H + exchanger regulatory factor 1 expression in familial tumors (P =. 009).", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor receptor 1", "start": 158, "end": 203}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Expression of GLUT-1 and transglutaminase 2 is increased in aggressive breast cancer, whereas claudin-1, which is expressed in normal tissues, is absent in such tumors.", "output": {"entities": {"gene": [{"text": "claudin-1", "start": 94, "end": 103}], "disease": [{"text": "breast cancer", "start": 71, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "claudin-1", "start": 94, "end": 103}, "tail": {"text": "breast cancer", "start": 71, "end": 84}}]}}, "schema": []}
{"input": "Haplotype 5 was associated with higher SHBG and lower free T. Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 39, "end": 43}], "disease": [{"text": "insulin resistance", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "autoimmune hepatitis, type 2 diabetes, a family history of HCC, hypothyroidism, and non-alcoholic steatohepatitis also show an increased risk of HCC compared to the general population.", "output": {"entities": {"gene": [{"text": "HCC", "start": 59, "end": 62}], "disease": [{"text": "type 2 diabetes", "start": 22, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Genotype 1 (G1) chronic hepatitis C (CHC) patients achieving a rapid virological response (RVR) on pegylated interferon (PEG-IFN) plus ribavirin have a high chance of sustained virological response (SVR), influenced by IL28B status, viral load, fibrosis and insulin resistance.", "output": {"entities": {"gene": [{"text": "IFN", "start": 125, "end": 128}], "disease": [{"text": "insulin resistance", "start": 258, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Long non-coding RNA LOC100507600 functions as a competitive endogenous RNA to regulate BMI1 expression by sponging miR128-1-3p in Hirschsprung' s disease.", "output": {"entities": {"gene": [{"text": "BMI1", "start": 87, "end": 91}], "disease": [{"text": "Hirschsprung' s disease", "start": 130, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BMI1", "start": 87, "end": 91}, "tail": {"text": "Hirschsprung' s disease", "start": 130, "end": 153}}]}}, "schema": []}
{"input": "Early changes in insulin receptor signaling and pain sensation in streptozotocin-induced diabetic neuropathy in rats.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 17, "end": 33}], "disease": [{"text": "diabetic neuropathy", "start": 89, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "insulin receptor", "start": 17, "end": 33}, "tail": {"text": "diabetic neuropathy", "start": 89, "end": 108}}]}}, "schema": []}
{"input": "Overexpression of HOXB8 can promote gastric cancer cells migration and invasion, while silencing HOXB8 leads to the opposite results.", "output": {"entities": {"gene": [{"text": "HOXB8", "start": 18, "end": 23}], "disease": [{"text": "gastric cancer", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "These results suggested that deregulation of p16-cyclin D1/Cdk4-Rb pathway, but not oncogenic activation of ras, plays a crucial role in bladder tumorigenesis induced by bladder calculi.", "output": {"entities": {"gene": [{"text": "p16", "start": 45, "end": 48}], "disease": [{"text": "bladder calculi", "start": 170, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Here we have used an antibody specific to human persyn to demonstrate that the level of this protein is increased in ageing cerebral cortex and in breast tumours.", "output": {"entities": {"gene": [{"text": "persyn", "start": 48, "end": 54}], "disease": [{"text": "ageing", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The apolipoprotein E gene promoter (-219G/T) polymorphism determines insulin sensitivity in response to dietary fat in healthy young adults.", "output": {"entities": {"gene": [{"text": "apolipoprotein E gene", "start": 4, "end": 25}], "disease": [{"text": "insulin sensitivity", "start": 69, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In this work, we have explored the molecular pathology of the lethal form of EB-PA, and we describe novel ITGB4 mutations in five alleles of three patients.", "output": {"entities": {"gene": [{"text": "ITGB4", "start": 106, "end": 111}], "disease": [{"text": "EB-PA", "start": 77, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB4", "start": 106, "end": 111}, "tail": {"text": "EB-PA", "start": 77, "end": 82}}]}}, "schema": []}
{"input": "These data suggest that heterozygous mutation of RAI1 and Rai1 leads to a disrupted circadian rhythm and thus results in an abnormal sleep-wake cycle, which can contribute to an abnormal feeding pattern and dependent cognitive performance.", "output": {"entities": {"gene": [{"text": "Rai1", "start": 58, "end": 62}], "disease": [{"text": "circadian rhythm", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We studied by immunohistochemistry the phosphorylation status of proteins of the RAS/MEK/ERK and PI3K/AKT/mTOR pathways in 53 MTC tissues (18 hereditary, 35 sporadic), including 51 primary MTCs and 2 cases with only lymph node metastases (LNM).", "output": {"entities": {"gene": [{"text": "ERK", "start": 89, "end": 92}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We observed a higher risk associated with alcohol consumption and smoking among homozygous GPX1 (198) Leu carriers, with incidence rate ratios for colorectal cancer of 1. 45 (95% CI: 1. 17-1. 81, P = 0. 02) per 10g alcohol intake per day and 2. 56 (95% CI: 0. 99-6. 61, P = 0. 02) among ever smokers compared with never smokers at enrolment.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 91, "end": 95}], "disease": [{"text": "smoking", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin μ-binding protein.", "output": {"entities": {"gene": [{"text": "IGHMBP2 gene", "start": 218, "end": 230}], "disease": [{"text": "muscular atrophy", "start": 7, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Insulin-like growth factor-II mRNA-binding protein 3 (IMP3) plays a vital role in carcinogenesis; however, its significance and prognostic value in colon cancer remain unclear.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 54, "end": 58}], "disease": [{"text": "colon cancer", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "OFQ/N pretreatment resulted in translocation of PKC-alpha, G protein-coupled receptor kinase 2 (GRK2) and GRK3 from the cytosol to the membrane, and this translocation was also blocked by chelerythrine.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 96, "end": 100}], "disease": [{"text": "translocation", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "To determine esophageal expression and the genetic variation of the Myo9B gene in the RE-BE-EAC cascade.", "output": {"entities": {"gene": [{"text": "Myo9B gene", "start": 68, "end": 78}], "disease": [{"text": "esophageal", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Tim-3 stimulates mast cells to produce Th2 cytokines, and anti-Tim-3 is able to dampen asthmatic inflammation.", "output": {"entities": {"gene": [{"text": "Tim-3", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In this report we show a strong synergistic interaction between granulocyte colony-stimulating factor (G-CSF) and all-trans retinoic acid (ATRA) on the expression of leukocyte alkaline phosphatase (LAP) in freshly isolated acute promyelocytic leukemia (APL) blasts as well as in NB40 and HL-60 cell lines.", "output": {"entities": {"gene": [{"text": "LAP", "start": 198, "end": 201}], "disease": [{"text": "acute promyelocytic leukemia", "start": 223, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.", "output": {"entities": {"gene": [{"text": "hydroxymethylbilane synthase", "start": 39, "end": 67}], "disease": [{"text": "acute intermittent porphyria", "start": 86, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hydroxymethylbilane synthase", "start": 39, "end": 67}, "tail": {"text": "acute intermittent porphyria", "start": 86, "end": 114}}]}}, "schema": []}
{"input": "Examination of sputum provides a direct method to investigate airway inflammation non-invasively in particular Th1 (IL-2, IFN-gamma) and Th2 (IL-4, IL-10) cytokine production.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 142, "end": 146}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Urinary determination of TMA/TMAO ratio in 158KK/308EG individuals showed a considerable reduction in FMO3 activity although they do not show the classical features of trimethylaminuria as a strong body odor and breath.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 102, "end": 106}], "disease": [{"text": "body odor", "start": 198, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Hyperekplexia is a neurological disorder associated primarily with mutations in the α1 subunit of glycine receptors (GlyRs) that lead to dysfunction of glycinergic inhibitory transmission.", "output": {"entities": {"gene": [{"text": "GlyRs", "start": 117, "end": 122}], "disease": [{"text": "neurological disorder", "start": 19, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Single-nucleotide polymorphism 1 (rs3813946), located in the 5' untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus.", "output": {"entities": {"gene": [{"text": "CR2", "start": 91, "end": 94}], "disease": [{"text": "lupus", "start": 220, "end": 225}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CR2", "start": 91, "end": 94}, "tail": {"text": "lupus", "start": 220, "end": 225}}]}}, "schema": []}
{"input": "LPS-dependent IL-12 overproduction by neutrophils is responsible for the switch in T helper Th1/Th2 balance to Th1 and in this way may participate in inflammation and autoimmune DM1 progression.", "output": {"entities": {"gene": [{"text": "Th1", "start": 92, "end": 95}], "disease": [{"text": "inflammation", "start": 150, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We conclude that central and peripheral ghrelin exerts a potent protective action on the stomach of rats exposed to ethanol or WRS, and these effects depend upon vagal activity and hyperemia mediated by the NOS-NO system and CGRP released from sensory afferent nerves.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 225, "end": 229}], "disease": [{"text": "hyperemia", "start": 181, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to compare cerebrospinal fluid (CSF) levels of the light subtype of the neurofilament proteins (NFL), tau, and beta-amyloid42 (Abeta42) in individuals with moderate or severe white matter changes (WMC) and in those with mild or no WMC.", "output": {"entities": {"gene": [{"text": "NFL", "start": 128, "end": 131}], "disease": [{"text": "mild", "start": 252, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway.", "output": {"entities": {"gene": [{"text": "NGF", "start": 112, "end": 115}], "disease": [{"text": "HSAN5", "start": 35, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NGF", "start": 112, "end": 115}, "tail": {"text": "HSAN5", "start": 35, "end": 40}}]}}, "schema": []}
{"input": "Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 26, "end": 30}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "A panel of NB cell lines (CHP-382, GOTO, SHEP-1, SHSY-5Y, and GI-CA-N) were infected with either a bcl-xS adenovirus (pAdRSV-bcl-xS) or a control virus (pAdRSV-lac-z).", "output": {"entities": {"gene": [{"text": "CHP", "start": 26, "end": 29}], "disease": [{"text": "adenovirus", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Transfusion of a 6% solution of a 500-kDa polymer possessing a P50 of 17 Torr and a cooperativity of n = 2. 0 resulted in a 66% reduction of infarct volume.", "output": {"entities": {"gene": [{"text": "P50", "start": 63, "end": 66}], "disease": [{"text": "infarct", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "This study shows a role of cPLA (2) & #945; in luminal breast cancer progression, in which the enzyme could represent a novel therapeutic target and a predictive marker.", "output": {"entities": {"gene": [{"text": "cPLA (2", "start": 27, "end": 34}], "disease": [{"text": "breast cancer", "start": 55, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cPLA (2", "start": 27, "end": 34}, "tail": {"text": "breast cancer", "start": 55, "end": 68}}]}}, "schema": []}
{"input": "Sera were analysed for testosterone and SHBG, and insulin resistance was estimated using a homeostatic model (HOMA2-IR).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 40, "end": 44}], "disease": [{"text": "insulin resistance", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Most XX male subjects present an anomalous translocation of the sex-determining region of the chromosome Y (SRY) gene from chromosome Y to chromosome X.", "output": {"entities": {"gene": [{"text": "SRY", "start": 108, "end": 111}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In vascular endothelial cells the histone methyltransferase Set7 can write the mono-methylation mark H3K4m1 and this methyl-writing enzyme is recruited as a gene co-activator in response to glucose.", "output": {"entities": {"gene": [{"text": "Set7", "start": 60, "end": 64}], "disease": [{"text": "mono", "start": 79, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Recent results suggest that mutations in MMR genes lead to tumorigenesis in mice, but DNA replication errors appear to be insufficient to initiate intestinal tumorigenesis in this model system.", "output": {"entities": {"gene": [{"text": "MMR", "start": 41, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Functional crosstalk of PGC-1 coactivators and inflammation in skeletal muscle pathophysiology.", "output": {"entities": {"gene": [{"text": "PGC", "start": 24, "end": 27}], "disease": [{"text": "inflammation", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Enamel-renal-gingival syndrome and FAM20A mutations.", "output": {"entities": {"gene": [{"text": "FAM20A", "start": 35, "end": 41}], "disease": [{"text": "Enamel-renal-gingival syndrome", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM20A", "start": 35, "end": 41}, "tail": {"text": "Enamel-renal-gingival syndrome", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "SPARC treatment resulted in decreased mRNA levels of PCNA (proliferating cell nuclear antigen), MCM2 (minichromosome maintenance protein 2), ClnD1 and Bcl-2, but an increased mRNA level of p21 (Waf1) in cyst-lining epithelial cells.", "output": {"entities": {"gene": [{"text": "MCM2", "start": 96, "end": 100}], "disease": [{"text": "cyst", "start": 203, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Supernatants were reserved for cytokine quantification, and endothelial adhesion molecules (EAM) were analyzed by flow cytometry; gene expressions of ICAM1 and genes of the NF-κB pathway were analyzed by qPCR.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 173, "end": 178}], "disease": [{"text": "adhesion", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The molecular diagnosis was based on the finding of a homozygous missense D652N mutation at a position in SLC26A3 (the known congenital chloride diarrhea locus) that is virtually completely conserved in orthologues and paralogues from invertebrates to humans, and clinical follow-up confirmed the diagnosis.", "output": {"entities": {"gene": [{"text": "SLC26A3", "start": 106, "end": 113}], "disease": [{"text": "congenital chloride diarrhea", "start": 125, "end": 153}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A3", "start": 106, "end": 113}, "tail": {"text": "congenital chloride diarrhea", "start": 125, "end": 153}}]}}, "schema": []}
{"input": "IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 9, "end": 13}], "disease": [{"text": "tumorigenesis", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We did not find a clear association between GLIALCAM mutations and AEP-macrocephaly comorbidity.", "output": {"entities": {"gene": [{"text": "AEP", "start": 67, "end": 70}], "disease": [{"text": "macrocephaly", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data indicate that Paneth cell hyperplasia and expression of their various antimicrobial products contribute to the immune response driven by TH2 cytokines, such as IL-9 and IL-13 in the intestinal mucosa.", "output": {"entities": {"gene": [{"text": "IL-9", "start": 185, "end": 189}], "disease": [{"text": "hyperplasia", "start": 51, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-9", "start": 185, "end": 189}, "tail": {"text": "hyperplasia", "start": 51, "end": 62}}]}}, "schema": []}
{"input": "A poorer response to purine nucleoside analogues (PNAs) is observed in patients with more marked leukocytosis, bulky splenomegaly, an unmutated immunoglobulin variable heavy chain (IgVH) gene profile, use of VH4-34 or with TP53 mutations.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 168, "end": 179}], "disease": [{"text": "splenomegaly", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the length shortening of telomere was an important characteristic in the carcinogenesis of esophageal epithelial cells, followed by increase of telomerase activity and downregulation of PinX1.", "output": {"entities": {"gene": [{"text": "PinX1", "start": 201, "end": 206}], "disease": [{"text": "esophageal", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-18 delays neutrophil apoptosis following alcohol intoxication and burn injury.", "output": {"entities": {"gene": [{"text": "Interleukin-18", "start": 0, "end": 14}], "disease": [{"text": "alcohol intoxication", "start": 53, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Interleukin-18", "start": 0, "end": 14}, "tail": {"text": "alcohol intoxication", "start": 53, "end": 73}}]}}, "schema": []}
{"input": "Only 1 ER-positive invasive carcinoma showed focal reactivity for Id4.", "output": {"entities": {"gene": [{"text": "Id4", "start": 66, "end": 69}], "disease": [{"text": "invasive carcinoma", "start": 19, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Only some ten years ago, the classical or short pentraxin C-reactive protein and the newly discovered long pentraxin PTX3 were considered to exert most of the detrimental effects of acute inflammation, whether microbial or sterile in origin.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 58, "end": 76}], "disease": [{"text": "sterile", "start": 223, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "To examine the association between genomewide association study-based diabetes mellitus-related single-nucleotide polymorphisms (SNPs) and coronary artery calcification (CAC), a valid risk factor for coronary heart disease, in a large, unselected, population-based cohort.", "output": {"entities": {"gene": [{"text": "CAC", "start": 170, "end": 173}], "disease": [{"text": "coronary artery calcification", "start": 139, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Mismatch repair gene MSH3 polymorphism is associated with the risk of sporadic prostate cancer.", "output": {"entities": {"gene": [{"text": "MSH3", "start": 21, "end": 25}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that hsa-miR-222 plays an important role in OTSCC invasion, and may serve as a novel therapeutic target for OTSCC patients at risk of metastatic disease.", "output": {"entities": {"gene": [{"text": "hsa-miR-222", "start": 26, "end": 37}], "disease": [{"text": "metastatic disease", "start": 155, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hsa-miR-222", "start": 26, "end": 37}, "tail": {"text": "metastatic disease", "start": 155, "end": 173}}]}}, "schema": []}
{"input": "These findings strongly suggested that CHK may play a role in tumorigenesis and in the terminal differentiation of neurons within the CNS.", "output": {"entities": {"gene": [{"text": "CHK", "start": 39, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "To determine the association of the Apolipoprotein E (APOE) E4 gene polymorphism with bone mineral density (BMD) and fractures we conducted a meta-analysis of 17 reports.", "output": {"entities": {"gene": [{"text": "APOE", "start": 54, "end": 58}], "disease": [{"text": "bone mineral density", "start": 86, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Normal and non-neoplastic brain tissues were negative for MK, PCNA, and p53 protein.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 62, "end": 66}], "disease": [{"text": "non-neoplastic", "start": 11, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans.", "output": {"entities": {"gene": [{"text": "DBP", "start": 108, "end": 111}], "disease": [{"text": "systolic blood pressure", "start": 48, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant.", "output": {"entities": {"gene": [{"text": "GBA", "start": 66, "end": 69}], "disease": [{"text": "secondary", "start": 116, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Ptp4a3-null mice developed 50% fewer colon tumors than wildtype mice after exposure to azoxymethane and dextran sodium sulfate.", "output": {"entities": {"gene": [{"text": "Ptp4a3", "start": 0, "end": 6}], "disease": [{"text": "colon tumors", "start": 37, "end": 49}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Ptp4a3", "start": 0, "end": 6}, "tail": {"text": "colon tumors", "start": 37, "end": 49}}]}}, "schema": []}
{"input": "Previously, we proposed the term \" early HCC \" for HCCs without definite destructive growth, and the nodule-in-nodule lesions described here are considered to be in the transitional stage from early HCC to advanced HCC, and are therefore named early advanced HCC (eAd HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 41, "end": 44}], "disease": [{"text": "nodule", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Both birthweight and polymorphisms in the VDR gene were associated with the presence of lumbar spine osteophytes and a significant interaction was observed between these 2 factors in men.", "output": {"entities": {"gene": [{"text": "VDR gene", "start": 42, "end": 50}], "disease": [{"text": "birthweight", "start": 5, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these results suggest that Nm23H1 and H2 have differential abilities to modulate tumorigenesis.", "output": {"entities": {"gene": [{"text": "Nm23H1", "start": 41, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We found significant evidence of an association between SPP1 promoter polymorphisms and glioma risk.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 56, "end": 60}], "disease": [{"text": "glioma", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Activation of beta-catenin in mouse hepatoma cells activates GSTm3 promoter-driven reporter activity, independently of beta-catenin/T-cell factor sites, via a retinoid X receptor-binding site.", "output": {"entities": {"gene": [{"text": "GSTm3", "start": 61, "end": 66}], "disease": [{"text": "hepatoma", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel R299Q mutation in GATA3 in a Japanese family with HDR syndrome.", "output": {"entities": {"gene": [{"text": "GATA3", "start": 40, "end": 45}], "disease": [{"text": "HDR syndrome", "start": 72, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA3", "start": 40, "end": 45}, "tail": {"text": "HDR syndrome", "start": 72, "end": 84}}]}}, "schema": []}
{"input": "Single layers of epithelial cells exhibiting all four CK15/CK19 phenotypes were observed contiguous to areas of atypical ductal hyperplasia that contained p53 positive cells that lost CK15 expression (CK15-/CK19 +) and had a very similar phenotype to those of the neighboring ductal carcinoma in situ (DCIS) and invasive cells.", "output": {"entities": {"gene": [{"text": "CK15", "start": 54, "end": 58}], "disease": [{"text": "atypical ductal hyperplasia", "start": 112, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Determine body mass index; measure serum androgen, insulin-like growth factor (IGF)-binding protein 1, lipids, IGF-1, and SHBG concentrations; perform glucose tolerance tests; and assay for G972R variant of the IRS-1 gene.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 122, "end": 126}], "disease": [{"text": "body mass index", "start": 10, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Two-locus haplotypes including HLA-A25-B13, HLA-A25-B27, HLA-A25-Cw * 0602, HLA-A25-DQA1 * 0302, HLA-A25-DQA1 * 0601, HLA-A25-DQB1 * 0303, HLA-B13-Cw * 0602, HLA-B13-DQA1 * 0302, HLA-B13-DQA1 * 0601, HLA-B27-Cw * 0602, HLA-B27-DQA1 * 0302, HLA-B27-DQA1 * 0601, HLA-B27-DQB1 * 0303, HLA-B27-DQB1 * 0503, HLA-Cw * 0602-DQA1 * 0302, HLA-Cw * 0602-DQA1 * 0601, HLA-Cw * 0602-DQB1 * 0303, HLA-Cw * 0602-DQB1 * 0503 and HLA-DQA1 * 0302-DQB1 * 0503 were associated with all types of vitiligo in Chinese Hans.", "output": {"entities": {"gene": [{"text": "B27", "start": 52, "end": 55}], "disease": [{"text": "vitiligo", "start": 476, "end": 484}]}, "relations": {}}, "schema": []}
{"input": "The significant independent risk factors for oral and pharyngeal cancer overall among moderate-to-heavy drinkers were inactive ALDH2 * 1/* 2, less-active ADH1B * 1/* 1, frequent drinking of strong alcohol beverages straight, smoking, and lower intake of green-yellow vegetables.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 127, "end": 132}], "disease": [{"text": "pharyngeal cancer", "start": 54, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The recently identified single nucleotide polymorphism in the MDM2 promoter (SNP 309) may contribute to the early onset of both sporadic and hereditary malignancies in patients with defective p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 192, "end": 195}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "When the cells were exposed to heat shock in the presence of fisetin, the induction of HSF1 target proteins, such as HSP70, HSP27 and BAG3 (Bcl-2-associated athanogene domain 3), were inhibited.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 117, "end": 122}], "disease": [{"text": "shock", "start": 36, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "FA and OCT reported an increased vascular leakage and pre-retinal neovascularization, respectively, in response to 12-HETE that were not observed in the PEDF-treated group.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 153, "end": 157}], "disease": [{"text": "retinal neovascularization", "start": 58, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We evaluated cells from a normal-appearing 27-year-old man with infertility and initial karyotype of 45, der (X) t (X; Y) (p22. 3; p11. 2) [8]/46, t (X; Y) (p22. 3; p11. 2) [12].", "output": {"entities": {"gene": [{"text": "p22", "start": 123, "end": 126}], "disease": [{"text": "infertility", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Moreover, silencing of the VPS13A gene increased caspase 3 activity and induced necrosis in HUVECs.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 49, "end": 58}], "disease": [{"text": "necrosis", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, increased expressions in the hippocampus of three noradrenergic-regulated plasticity genes and one neurotrophic factor may be one of the molecular and cellular mechanisms underlying the antidepressant action of DISS in chronic mild stress (CMS) rats.", "output": {"entities": {"gene": [{"text": "neurotrophic factor", "start": 114, "end": 133}], "disease": [{"text": "mild", "start": 242, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Treatment with Epo (10 U for 5 times/week) stimulated hematopoietic recovery in the AZT-treated animals and reduced the severe anemia and thrombocytopenia by 3 weeks.", "output": {"entities": {"gene": [{"text": "Epo", "start": 15, "end": 18}], "disease": [{"text": "thrombocytopenia", "start": 138, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Epo", "start": 15, "end": 18}, "tail": {"text": "thrombocytopenia", "start": 138, "end": 154}}]}}, "schema": []}
{"input": "The expression of NK-1R in inflammatory cells and blood vessels also points to an interaction of immunoreactive substance P nerves, inflammatory cells and blood vessels, and further supports the existence of a neuroimmune interaction that probably influences the pain syndrome and chronic inflammatory changes so characteristic of CP.", "output": {"entities": {"gene": [{"text": "substance P", "start": 112, "end": 123}], "disease": [{"text": "pain syndrome", "start": 263, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Partial SPRY1 knockdown by RNA interference protected endothelial cells from apoptosis as well as increased endothelial cell proliferation, migration, capillary network formation, and adhesion to extracellular matrix proteins.", "output": {"entities": {"gene": [{"text": "SPRY1", "start": 8, "end": 13}], "disease": [{"text": "adhesion", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Our data show that both IL-33 and ST2 were highly up-regulated in EOC tumors compared with normal ovary and ovarian benign tumors, and the expression levels were further increased in tumor tissues at the metastatic site.", "output": {"entities": {"gene": [{"text": "ST2", "start": 34, "end": 37}], "disease": [{"text": "benign tumors", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "IL-10 was strongly associated (p = 0. 004, odd ratio (OR) = 6. 8, confidence interval = 1. 9-25) with lesions, excluding IFN-gamma, IL-12, TNF, IL-13, and IL-4 from the regression model.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 155, "end": 159}], "disease": [{"text": "regression", "start": 169, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Typically, myxofibrosarcoma gain and/or amplification was mapped to 7p21. 3-q31. 1, q31. 1-q31. 33, q33-q36. 2, p21. 3, p21. 2, p14. 1-q11. 23, q31. 33-q33, p21. 2-p14. 1, q11. 23-q21. 3, q36. 2-q36. 3, which, respectively are known to harbour tumour-associated genes, including TIF, BRAF, MLL3, SMO, and MET.", "output": {"entities": {"gene": [{"text": "SMO", "start": 296, "end": 299}], "disease": [{"text": "myxofibrosarcoma", "start": 11, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Consequently, both techniques are equally effective in assessing for an EWSR1 rearrangement and are useful ancillary diagnostic tests for clear cell sarcoma.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 72, "end": 77}], "disease": [{"text": "clear cell sarcoma", "start": 138, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EWSR1", "start": 72, "end": 77}, "tail": {"text": "clear cell sarcoma", "start": 138, "end": 156}}]}}, "schema": []}
{"input": "Here, we have employed SKY and high-resolution 244K oligonucleotide array CGH to characterize rearrangements and amplifications in a new WDLS cell line (GOT3) with a giant marker chromosome derived from chromosomes 12, 1, and X.", "output": {"entities": {"gene": [{"text": "SKY", "start": 23, "end": 26}], "disease": [{"text": "giant", "start": 166, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.", "output": {"entities": {"gene": [{"text": "homogentisic acid oxidase", "start": 21, "end": 46}], "disease": [{"text": "alkaptonuria", "start": 56, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "homogentisic acid oxidase", "start": 21, "end": 46}, "tail": {"text": "alkaptonuria", "start": 56, "end": 68}}]}}, "schema": []}
{"input": "One of these roles is that it provides an effective autoregulatory mechanism which protects the host from excessive inflammation and tissue damage which is in part initiated by the Th1 driven pro-inflammatory immune responses during infections (such as TB, HIV and malaria).", "output": {"entities": {"gene": [{"text": "Th1", "start": 181, "end": 184}], "disease": [{"text": "inflammation", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the role of CD4 (+) and CD8 (+) T cells in immunity to Ehrlichia and the pathogenesis of fatal ehrlichiosis caused by infection with low-and high-dose (10 (3) and 10 (5) bacterial genomes/mouse, respectively) ehrlichial inocula.", "output": {"entities": {"gene": [{"text": "CD4", "start": 34, "end": 37}], "disease": [{"text": "ehrlichiosis", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "DISC1, a promising candidate susceptibility gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis.", "output": {"entities": {"gene": [{"text": "NDEL1", "start": 125, "end": 130}], "disease": [{"text": "psychosis", "start": 202, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDEL1", "start": 125, "end": 130}, "tail": {"text": "psychosis", "start": 202, "end": 211}}]}}, "schema": []}
{"input": "The functions of glutathione peroxidase 7 (GPX7), an antioxidant enzyme frequently silenced during Barrett' s tumorigenesis, remain largely uncharacterized.", "output": {"entities": {"gene": [{"text": "GPX7", "start": 43, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the present study investigated whether SAC consumption would help prevent tumour growth and progression, including the EMT, in a mouse xenograft model of oral cancer.", "output": {"entities": {"gene": [{"text": "SAC", "start": 50, "end": 53}], "disease": [{"text": "oral cancer", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "TLE3", "start": 80, "end": 84}], "disease": [{"text": "breast tumors", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLE3", "start": 80, "end": 84}, "tail": {"text": "breast tumors", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.", "output": {"entities": {"gene": [{"text": "RB1", "start": 0, "end": 3}], "disease": [{"text": "retinoblastoma", "start": 80, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 0, "end": 3}, "tail": {"text": "retinoblastoma", "start": 80, "end": 94}}]}}, "schema": []}
{"input": "t (6; 14) (p22; q32): a new recurrent IGH @translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL).", "output": {"entities": {"gene": [{"text": "BCP", "start": 121, "end": 124}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "To explore this further, we examined polymorphisms in CYP1A1, CYP2E1, GSTM1 and GSTT1, both independently and in combination, for potential associations with the risk of biopsy-proven squamous dysplasia of the esophagus in asymptomatic adults from Linxian, a high risk region in China.", "output": {"entities": {"gene": [{"text": "CYP2E1", "start": 62, "end": 68}], "disease": [{"text": "asymptomatic", "start": 223, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "The gene expression of FOS also increased with longer exposure to hypoxia.", "output": {"entities": {"gene": [{"text": "FOS", "start": 23, "end": 26}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction.", "output": {"entities": {"gene": [{"text": "RPGR", "start": 23, "end": 27}], "disease": [{"text": "retinal degeneration", "start": 88, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPGR", "start": 23, "end": 27}, "tail": {"text": "retinal degeneration", "start": 88, "end": 108}}]}}, "schema": []}
{"input": "Partial recessive STAT1 deficiency is what we believe to be a novel primary immunodeficiency, resulting in impairment of the response to at least 4 cytokines (IFN-alpha/beta, IFN-gamma, IFN-lambda1, and IL-27).", "output": {"entities": {"gene": [{"text": "IFN", "start": 159, "end": 162}], "disease": [{"text": "primary immunodeficiency", "start": 68, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Central QRFP administration also evoked highly sustained elevation of blood pressure and heart rate.", "output": {"entities": {"gene": [{"text": "QRFP", "start": 8, "end": 12}], "disease": [{"text": "blood pressure", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of the CYP26B1 splice variant was observed in human oral cancer tissue compared with adjacent normal tissue, and increased expression was observed in patients at a late tumor stage.", "output": {"entities": {"gene": [{"text": "CYP26B1", "start": 28, "end": 35}], "disease": [{"text": "oral cancer", "start": 73, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Multiple linear regression analysis was performed with normalized APC-SR (APTT) or APC-SR (ETP) as dependent variable and putative determinants [levels of FII, FV, FVII, FVIII, FIX, FX, FXI, FXII, FXIII A subunit, FXIII B subunit, protein S total, protein S free, protein C, tissue factor pathway inhibitor (TFPI) total, TFPI free, antithrombin and fibrinogen] as independent variables.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 170, "end": 175}], "disease": [{"text": "fibrinogen", "start": 349, "end": 359}]}, "relations": {}}, "schema": []}
{"input": "Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.", "output": {"entities": {"gene": [{"text": "troponin T", "start": 6, "end": 16}], "disease": [{"text": "familial dilated cardiomyopathy", "start": 29, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The effect of the factor V Leiden mutation, high levels of fibrinogen, and increasing levels of factor VIII was stronger in males than in females.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 96, "end": 107}], "disease": [{"text": "fibrinogen", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Only 35/56 samples had Real-Time-Polymerase-Chain-Reaction/Fluorescent-In-Situ-Hybridization analysis, 32/35 had EWS-translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 113, "end": 116}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Significant neuroprotective effects were observed, with fewer apoptotic cells found in the spinal cords of SIRT1-overexpressing EAE mice associated with increased brain-derived neurotrophic factor and NAD levels.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 107, "end": 112}], "disease": [{"text": "EAE", "start": 128, "end": 131}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 107, "end": 112}, "tail": {"text": "EAE", "start": 128, "end": 131}}]}}, "schema": []}
{"input": "Our findings 1. establish the search for aberrant proteostasis as a successful strategy to identify neuronal dysfunction in deficient cognitive behavior, 2. reveal a previously unknown functional network of proteins (ARP3, NEB2, BRAG2) involved in age-associated cognitive dysfunction.", "output": {"entities": {"gene": [{"text": "BRAG2", "start": 229, "end": 234}], "disease": [{"text": "cognitive dysfunction", "start": 263, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "The positive rates of HBsAg and HBVDNA were 62. 5% (15/24) and 75. 0% (12/16) in chronic hepatitis, 64. 0% (16/25) and 83. 3% (15/18) in liver cirrhosis, 72. 7% (16/22) and 85. 7% (12/14) in the paratumorous tissu and 45. 0% (14/31) and 64. 3% (9/14) in HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 254, "end": 257}], "disease": [{"text": "chronic hepatitis", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Sleep spindle activity (SPA) is associated with neuroplasticity mechanisms during brain maturation and is more abundant in childhood and adolescence than in adulthood, and as such, may be a more sensitive measure of sleep alteration than PSG in early-onset depression.", "output": {"entities": {"gene": [{"text": "PSG", "start": 238, "end": 241}], "disease": [{"text": "depression", "start": 257, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Additionally, the rates of mild, moderate and severe ABCG2 dysfunctions in Japanese (35. 4%, 12. 4% and 1. 6%, respectively) were higher than those in Caucasians (14. 0%, 2. 5% and 0%, respectively) and African-Americans (14. 0%, 2. 0% and 0%, respectively).", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 53, "end": 58}], "disease": [{"text": "mild", "start": 27, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The possible role of Cdx2 in human colorectal tumorigenesis is discussed.", "output": {"entities": {"gene": [{"text": "Cdx2", "start": 21, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 26, "end": 31}], "disease": [{"text": "enteropathy", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Transient forebrain ischemia leads to delayed death of the CA1 neurons in the hippocampus.", "output": {"entities": {"gene": [{"text": "CA1", "start": 59, "end": 62}], "disease": [{"text": "ischemia", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The observed inconsistency between the clinical cure and the presence of detectable MLL/ENL transcript suggests the existence of a MLL/ENL-expressing \" preleukemia \" stem cells, similar to what demonstrated for the AML1/ETO-positive leukemia setting.", "output": {"entities": {"gene": [{"text": "ETO", "start": 220, "end": 223}], "disease": [{"text": "preleukemia", "start": 152, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "For functional analyses, primary cultures of fibroblasts were obtained from 11 patients carrying either mono-or biallelic variants, including 1 case harboring a large deletion encompassing the entire SACS gene.", "output": {"entities": {"gene": [{"text": "SACS gene", "start": 200, "end": 209}], "disease": [{"text": "mono", "start": 104, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Study findings are in accordance with the hepatocellular carcinogenic model where IL28B TT genotype, by promoting a persistent chronic hepatitis which leads to both hepatocyte injury and chronic inflammation, could facilitate HCC development.", "output": {"entities": {"gene": [{"text": "HCC", "start": 226, "end": 229}], "disease": [{"text": "chronic hepatitis", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that p53 mutations are uncommon in sporadic hepatic angiosarcomas (2/21, 9%), and the mutational profile is consistent with endogenous mechanisms.", "output": {"entities": {"gene": [{"text": "p53", "start": 25, "end": 28}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In cases with nodule in nodule pattern of HCC, the p53-positive rate was different among nodules with the same level of differentiation.", "output": {"entities": {"gene": [{"text": "HCC", "start": 42, "end": 45}], "disease": [{"text": "nodule", "start": 14, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The number of CD3 +, CD4 + and CCR4 + cells and the expression of RORC2 mRNA were significantly increased in the tuberculous pleurisy patients compared with the nonspecific pleuritis subjects.", "output": {"entities": {"gene": [{"text": "CD4", "start": 21, "end": 24}], "disease": [{"text": "tuberculous pleurisy", "start": 113, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, silencing of SAF-1 expression in breast cancer cells by SAF-1-specific short hairpin RNAs (shRNAs) significantly reduced H-Ras and K-Ras mRNA level.", "output": {"entities": {"gene": [{"text": "SAF", "start": 28, "end": 31}], "disease": [{"text": "breast cancer", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "A significant increase in the frequency of the T/T genotype was detected from chronic hepatitis to HCC and LC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 99, "end": 102}], "disease": [{"text": "chronic hepatitis", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Dorsal agenesis of the pancreas (DAP) is a rare congenital anomaly, with only 44 cases having been reported in the English literature since 1966.", "output": {"entities": {"gene": [{"text": "DAP", "start": 33, "end": 36}], "disease": [{"text": "congenital anomaly", "start": 48, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.", "output": {"entities": {"gene": [{"text": "SMC1A", "start": 0, "end": 5}], "disease": [{"text": "X-Linked Cornelia de Lange syndrome", "start": 65, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMC1A", "start": 0, "end": 5}, "tail": {"text": "X-Linked Cornelia de Lange syndrome", "start": 65, "end": 100}}]}}, "schema": []}
{"input": "Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.", "output": {"entities": {"gene": [{"text": "VHL", "start": 40, "end": 43}], "disease": [{"text": "pulmonary arterial hypertension", "start": 87, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VHL", "start": 40, "end": 43}, "tail": {"text": "pulmonary arterial hypertension", "start": 87, "end": 118}}]}}, "schema": []}
{"input": "The frequency of CFTR mutations was compared with that of patients with secondary obstructive azoospermia (OAZ; one out of 16, 6. 3%) and non-obstructive azoospermia (NOAZ; two out of 22, 9. 1%) with conserved spermatogenesis, which were similar to the general population.", "output": {"entities": {"gene": [{"text": "OAZ", "start": 107, "end": 110}], "disease": [{"text": "non-obstructive azoospermia", "start": 138, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Using a combination of denaturing gradient gel electrophoresis (DGGE), temporal temperature gel electrophoresis (TTGE), and sequence analysis, we screened 64 unrelated CS-like subjects for germline mutations in PTEN.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 211, "end": 215}], "disease": [{"text": "CS", "start": 168, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 211, "end": 215}, "tail": {"text": "CS", "start": 168, "end": 170}}]}}, "schema": []}
{"input": "Pulmonary cyclooxygenase (COX)-2 protects against acid aspiration and bacterial instillation via lipoxins, a family of potent anti-inflammatory lipid mediators.", "output": {"entities": {"gene": [{"text": "COX", "start": 26, "end": 29}], "disease": [{"text": "aspiration", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Aberrantly increased mRNA expression of betaglycan, an inhibin co-receptor in the ovarian tissues in women with polycystic ovary syndrome.", "output": {"entities": {"gene": [{"text": "betaglycan", "start": 40, "end": 50}], "disease": [{"text": "polycystic ovary syndrome", "start": 112, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Targeting p21 via the selective p53 inhibitor pifithrin-alpha was able to prevent acute renal failure when administered immediately before ischemia.", "output": {"entities": {"gene": [{"text": "p21", "start": 10, "end": 13}], "disease": [{"text": "acute renal failure", "start": 82, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Experimental and natural infections in MyD88-and IRAK-4-deficient mice and humans.", "output": {"entities": {"gene": [{"text": "IRAK", "start": 49, "end": 53}], "disease": [{"text": "infections", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on a child with a de novo 12; 17 translocation, 46, XX, t (12; 17) (q14. 3; q24. 3) chromosome complement, resulting in SRY-negative 46, XX testicular disorder of sex development (46, XX DSD without campomelic dysplasia).", "output": {"entities": {"gene": [{"text": "SRY", "start": 136, "end": 139}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Production of AFP is a distinctive feature, which has not been reported in the pulmonary and extrapulmonary cases of small cell carcinoma.", "output": {"entities": {"gene": [{"text": "AFP", "start": 14, "end": 17}], "disease": [{"text": "small cell carcinoma", "start": 117, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The coculture model mimics the proliferative index (Ki67 expression) and tumor aggressiveness (HER-2 expression) akin to those observed in clinical tumor samples.", "output": {"entities": {"gene": [{"text": "HER-2", "start": 95, "end": 100}], "disease": [{"text": "aggressiveness", "start": 79, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Expression of PDGF-A, a potent growth factor for fibroblasts, has been detected in desmoplastic small round cell tumors and has been linked to the characteristic desmoplasia in these tumors.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 14, "end": 20}], "disease": [{"text": "desmoplastic", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Diabetic Sema3a (+) mice develop massive proteinuria, renal insufficiency, and extensive nodular glomerulosclerosis, mimicking advanced DN in humans.", "output": {"entities": {"gene": [{"text": "Sema3a", "start": 9, "end": 15}], "disease": [{"text": "nodular glomerulosclerosis", "start": 89, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Modulatory effects of LDL phenotypes on the activation of adhesion molecules, monocyte adherence, and transcriptional activity of nuclear factor-kappaB (NF-kappaB) and activator protein-1 (AP-1) were investigated.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 153, "end": 162}], "disease": [{"text": "adhesion", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We have studied the porphobilinogen deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 20, "end": 45}], "disease": [{"text": "acute intermittent porphyria", "start": 139, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 20, "end": 45}, "tail": {"text": "acute intermittent porphyria", "start": 139, "end": 167}}]}}, "schema": []}
{"input": "Interestingly, relative abundance of mRNA for CTGF compared with BNP was positively correlated with diastolic dysfunction, myocardial fibrosis area, and procollagen type 1 mRNA expression.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 46, "end": 50}], "disease": [{"text": "myocardial fibrosis", "start": 123, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The ThrbPV mutation further markedly augmented the risk of mammary hyperplasia in a mouse model with high susceptibility to mammary tumors (Pten (+/-) mouse), as demonstrated by the occurrence of mammary hyperplasia in ∼ 60% of Thrb (PV/+) Pten (+/-) and ∼ 77% of Thrb (PV/PV) Pten (+/-) mice versus ∼ 33% of Thrb (+/+) Pten (+/-) mice.", "output": {"entities": {"gene": [{"text": "Thrb", "start": 4, "end": 8}], "disease": [{"text": "hyperplasia", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These data replicate the finding of decreased cx I and cx II expression in the hippocampus in schizophrenia and show a similar or greater abnormality in bipolar disorder.", "output": {"entities": {"gene": [{"text": "cx II", "start": 55, "end": 60}], "disease": [{"text": "schizophrenia", "start": 94, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cx II", "start": 55, "end": 60}, "tail": {"text": "schizophrenia", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Intraperitoneal injection of a replication-deficient adenovirus containing the HST-1 (FGF-4) gene (Adex1HST-1) increased peripheral platelet counts in mice, and also effectively prevented experimentally induced thrombocytopenia.", "output": {"entities": {"gene": [{"text": "HST-1", "start": 79, "end": 84}], "disease": [{"text": "adenovirus", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The DRD2/ANKK1 gene is associated with response to add-on dextromethorphan treatment in bipolar disorder.", "output": {"entities": {"gene": [{"text": "ANKK1", "start": 9, "end": 14}], "disease": [{"text": "bipolar disorder", "start": 88, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKK1", "start": 9, "end": 14}, "tail": {"text": "bipolar disorder", "start": 88, "end": 104}}]}}, "schema": []}
{"input": "The presence of HLA haplotype DR3-DQ2 or DR4-DQ8 is associated with an increased risk of celiac disease.", "output": {"entities": {"gene": [{"text": "DR4", "start": 41, "end": 44}], "disease": [{"text": "celiac disease", "start": 89, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Depletion of dHDAC6 significantly enhances the effects caused by ectopic expression of alpha-synuclein, namely, loss of DA neurons, retinal degeneration, and locomotor dysfunction.", "output": {"entities": {"gene": [{"text": "alpha-synuclein", "start": 87, "end": 102}], "disease": [{"text": "retinal degeneration", "start": 132, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the translocation status in 14 cases of oncocytic mucoepidermoid carcinoma using a MAML2-11q21 break-apart probe spanning the entire chromosome region of the MAML2 gene and correlated these findings with clinicopathologic parameters including age, sex, stage, predominant growth pattern, grade, and p63 immunostaining pattern.", "output": {"entities": {"gene": [{"text": "p63", "start": 312, "end": 315}], "disease": [{"text": "translocation", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the inhibition of L-type amino acid transporter 1 activity via JPH203, which may act as a potential novel anti-oral-cancer agent, leads to apoptosis by inducing the intracellular depletion of the neutral amino acids essential for cancer cell growth in YD-38 human oral cancer cells.", "output": {"entities": {"gene": [{"text": "L-type amino acid transporter 1", "start": 45, "end": 76}], "disease": [{"text": "oral cancer", "start": 291, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "Moreover, there were no significant differences in the allele frequencies of the DNA polymorphism in intron 9 among the 11 FAD, 39 sporadic AD, and 110 control subjects.", "output": {"entities": {"gene": [{"text": "FAD", "start": 123, "end": 126}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Stromal COX-2 expression and the proliferative index were increased only in sporadic adenomas (sporadic adenomas: COX-2 12%; 7-17, Ki67 24%; 15-33, FAP adenomas: COX-2 8%; 5-11, Ki67 5%; 2-9, normal controls: COX-2 4%; 2-7, Ki67 6%; 1-11).", "output": {"entities": {"gene": [{"text": "Ki67", "start": 131, "end": 135}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "There were no clear patterns of increased risk associated with smoking by NAT2 status among premenopausal women.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 74, "end": 78}], "disease": [{"text": "smoking", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Finally, as has been suggested for colitis-associated cancer, the authors of this report concluded that the inhibition of NF-kappaB signaling also may be an additional option for the treatment of sporadic CRC.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 122, "end": 131}], "disease": [{"text": "sporadic", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The data furthermore support the hypothesis that the 5-HT (7) receptor might be a suitable target for treating depression.", "output": {"entities": {"gene": [{"text": "5-HT (7", "start": 53, "end": 60}], "disease": [{"text": "depression", "start": 111, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (7", "start": 53, "end": 60}, "tail": {"text": "depression", "start": 111, "end": 121}}]}}, "schema": []}
{"input": "Inhibition of miR-130a reversed liver size enlargement induced by Hippo pathway inactivation and blocked YAP-induced tumorigenesis.", "output": {"entities": {"gene": [{"text": "YAP", "start": 105, "end": 108}], "disease": [{"text": "enlargement", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "[The relationship of P47phox C923T (Ala308Val) polymorphism to cerebral infarction and its effect on plasma lipid levels].", "output": {"entities": {"gene": [{"text": "P47phox", "start": 21, "end": 28}], "disease": [{"text": "cerebral infarction", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "MIF was abundantly expressed in the non-invasive breast cancer cell lines MDA-MB-468 and ZR-75-1, but not in invasive MDA-MB-231 cells, which in turn expressed higher levels of the MIF-receptor CD74.", "output": {"entities": {"gene": [{"text": "CD74", "start": 194, "end": 198}], "disease": [{"text": "breast cancer", "start": 49, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD74", "start": 194, "end": 198}, "tail": {"text": "breast cancer", "start": 49, "end": 62}}]}}, "schema": []}
{"input": "Betel quid (BQ) chewing is an etiologic factor of oral cancer and submucus fibrosis (OSF).", "output": {"entities": {"gene": [{"text": "OSF", "start": 85, "end": 88}], "disease": [{"text": "fibrosis", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Allelic deletion at chromosome 9p21 (p16) and 17p13 (p53) in microdissected sporadic dysplastic nevus.", "output": {"entities": {"gene": [{"text": "p53", "start": 53, "end": 56}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Some mutants with amino acid replacements were capable of normal mitochondrial processing, indicating that the activity of steroidogenic acute regulatory protein is not associated with its translocation into mitochondria.", "output": {"entities": {"gene": [{"text": "steroidogenic acute regulatory protein", "start": 123, "end": 161}], "disease": [{"text": "translocation", "start": 189, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "We aimed to investigate whether a phenotype related to healthy metabolic aging could be identified in individuals carrying the longevity-associated FOXO3A rs2802292 G-allele.", "output": {"entities": {"gene": [{"text": "FOXO3A", "start": 148, "end": 154}], "disease": [{"text": "aging", "start": 73, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The homozygous mutation of the IGF1R is associated with severe IUGR, dysmorphic features, and insulin resistance, while both parents were asymptomatic heterozygous carriers of the same mutation.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 31, "end": 36}], "disease": [{"text": "asymptomatic", "start": 138, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We found that the presence/absence of the estrogen receptor (ER) may play a crucial role in driving tumor development through distinct genomic pathways independently of the tumor type (sporadic or familial) and mutation status (BRCA1 or BRCA2).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 237, "end": 242}], "disease": [{"text": "sporadic", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Multivariate regression analysis demonstrated that elevated serum ceruloplasmin was a determinant of albuminuria independently of conventional risk factors.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 66, "end": 79}], "disease": [{"text": "albuminuria", "start": 101, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 66, "end": 79}, "tail": {"text": "albuminuria", "start": 101, "end": 112}}]}}, "schema": []}
{"input": "Five-hundred eighty-five type 1 diabetic patients and 592 similar age and sex control subjects were evaluated for progression of coronary artery calcification (CAC), a marker of subclinical CAD, before and after a 2. 5-year follow-up.", "output": {"entities": {"gene": [{"text": "CAC", "start": 160, "end": 163}], "disease": [{"text": "coronary artery calcification", "start": 129, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "No relationship of FCRN expression with age at disease onset, age at diagnosis, diagnostic delay, IgG levels or frequency of infections before or during replacement immunoglobulin treatment, the presence of lung functional abnormalities, chronic diarrhea, granulomas, lymphadenopathy, splenomegaly or autoimmune phenomena was observed.", "output": {"entities": {"gene": [{"text": "FCRN", "start": 19, "end": 23}], "disease": [{"text": "chronic diarrhea", "start": 238, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities.", "output": {"entities": {"gene": [{"text": "aquaporin 7", "start": 55, "end": 66}], "disease": [{"text": "abnormalities", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The level of chromosome breaks (spontaneous and induced), the level of DNA damage (spontaneous and induced), DNA repair potential and the distribution of polymorphic variants of GSTT1 gene are not significantly different in YA and in OP, which suggests that these factors do not appear the causative factors for HNSCC in young age.", "output": {"entities": {"gene": [{"text": "GSTT1 gene", "start": 178, "end": 188}], "disease": [{"text": "chromosome breaks", "start": 13, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Scaffold attachment factors SAFB1 and SAFB2: Innocent bystanders or critical players in breast tumorigenesis?", "output": {"entities": {"gene": [{"text": "SAFB2", "start": 38, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In Mfrprd6 eyes, a significant 1. 5-to 2. 0-fold decrease was observed among transcripts of genes linked to retinal degeneration, including those involved in visual cycle (Rpe65, Lrat, Rgr), phototransduction (Pde6a, Guca1b, Rgs9), and photoreceptor disc morphogenesis (Rpgrip1 and Fscn2).", "output": {"entities": {"gene": [{"text": "Lrat", "start": 179, "end": 183}], "disease": [{"text": "retinal degeneration", "start": 108, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "This disorder, characterized by a typical MRI pattern and a progressive spastic paraplegia that may be associated with dementia and ataxia, may have an onset in early childhood and probably is one of the more common forms of complicated HSP.", "output": {"entities": {"gene": [{"text": "MRI", "start": 42, "end": 45}], "disease": [{"text": "progressive spastic paraplegia", "start": 60, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Over twenty different mutations in the Ca2 +-release channel are associated with susceptibility to the pharmacogenetic disorder malignant hyperthermia.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 39, "end": 42}], "disease": [{"text": "malignant hyperthermia", "start": 128, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We genotyped four single nucleotide polymorphisms (SNPs) in HLA-DP (rs3077 and rs9277535) and HLA-DQ (rs2856718 and rs7453920) in a two-stage case-control study with a total of 2317 cervical cancer cases and 2109 cancer-free controls using TaqMan allelic discrimination assay.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 60, "end": 66}], "disease": [{"text": "cervical cancer", "start": 182, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Intravenous administration of superoxide dismutase (5 mg/kg), catalase (5 mg/kg) and mannitol (200 mg/kg) protected the mice against pulmonary thromboembolism.", "output": {"entities": {"gene": [{"text": "catalase", "start": 62, "end": 70}], "disease": [{"text": "pulmonary thromboembolism", "start": 133, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 62, "end": 70}, "tail": {"text": "pulmonary thromboembolism", "start": 133, "end": 158}}]}}, "schema": []}
{"input": "The objective of this study was to assess the relationship between polymorphisms in LRRFIP1 gene and adiposity (BMI, fat mass (FM), waist circumference (WC), and computed tomography-derived areas of total, subcutaneous and visceral abdominal adipose tissue) and markers of inflammation (C-reactive protein (CRP) and interleukin-6 (IL-6)).", "output": {"entities": {"gene": [{"text": "LRRFIP1 gene", "start": 84, "end": 96}], "disease": [{"text": "inflammation", "start": 273, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "APOER2 gene expression analysis revealed lower transcript levels in lymphoblastoid cells from cognitively impaired schizophrenia patients of the alternatively spliced exon 19, mediating Reelin signaling and synaptic plasticity in the adult brain.", "output": {"entities": {"gene": [{"text": "APOER2", "start": 0, "end": 6}], "disease": [{"text": "schizophrenia", "start": 115, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOER2", "start": 0, "end": 6}, "tail": {"text": "schizophrenia", "start": 115, "end": 128}}]}}, "schema": []}
{"input": "Placental growth factor messenger ribonucleic acid expression was 26. 6-fold greater in a mouse AMI model than in sham-operated mice, and PlGF was expressed mainly in endothelial cells within the infarct region.", "output": {"entities": {"gene": [{"text": "PlGF", "start": 138, "end": 142}], "disease": [{"text": "infarct", "start": 196, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "We report that constitutive expression of the microsomal prostaglandin E synthase-1 (mPGES-1) is associated with increased prostaglandin E (2) (PGE (2)) production and stimulation of growth in the human astroglioma cell line U87-MG compared with human primary astrocytes.", "output": {"entities": {"gene": [{"text": "U87", "start": 225, "end": 228}], "disease": [{"text": "astroglioma", "start": 203, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Hepatitis B surface antigen (HBsAg), proliferating cell nuclear antigen (PCNA) and glutathione S-transferases (GST-pi) were detected by immunohistochemical staining and HBV DNA was detected by in situ hybridization (ISH) in formalin-fixed and paraffin-embedded sections with a total of 111 specimens of chronic hepatitis, liver cirrhosis, paratumorous tissue, HCC and normal liver tissue.", "output": {"entities": {"gene": [{"text": "HCC", "start": 360, "end": 363}], "disease": [{"text": "chronic hepatitis", "start": 303, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "The current findings indicated that differential expression of adhesion and ECM molecules, such as CD166, versican, perlecan, and Col4A2, may interfere with cartilaginous differentiation.", "output": {"entities": {"gene": [{"text": "CD166", "start": 99, "end": 104}], "disease": [{"text": "adhesion", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The role of STAT3 activation in ESFT pathogenesis seems to be independent of the type of EWS/Ets translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 89, "end": 92}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "For treatment of a posttraumatic intramural jejunal haematoma with extension into the mesenterium the patient received continuous infusion (CI) of a high purity F VIII concentrate, starting with an initial bolus injection of 100 IU F VIII/kg bw and followed by 4-5 IU F VIII/kg bw/h i. v.", "output": {"entities": {"gene": [{"text": "VIII", "start": 163, "end": 167}], "disease": [{"text": "haematoma", "start": 52, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "As roles for 5-HT7 receptors in anxiety and depression were recently established, the current findings have implications for understanding the high anxiety and depressive-like phenotype of SERT-deficient mice.", "output": {"entities": {"gene": [{"text": "5-HT7", "start": 13, "end": 18}], "disease": [{"text": "depression", "start": 44, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT7", "start": 13, "end": 18}, "tail": {"text": "depression", "start": 44, "end": 54}}]}}, "schema": []}
{"input": "Cold-inducible RNA-binding protein (CIRP) is a newly discovered proinflammatory mediator that can be released into the circulation during hemorrhage or septic shock.", "output": {"entities": {"gene": [{"text": "CIRP", "start": 36, "end": 40}], "disease": [{"text": "septic shock", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In MCF-7 breast cancer cells Gab2 was markedly tyrosine phosphorylated in response to heregulin and also following EGF, insulin or bFGF administration, indicating that a variety of RTKs implicated in breast cancer development or progression couple to this docking protein.", "output": {"entities": {"gene": [{"text": "docking protein", "start": 256, "end": 271}], "disease": [{"text": "breast cancer", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Common human Toll-like receptor 9 polymorphisms and haplotypes: association with atopy and functional relevance.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 9", "start": 13, "end": 33}], "disease": [{"text": "atopy", "start": 81, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "FSH receptor genotyping may, thus, be interesting as an adjunct indicator of ovarian reserve for infertile women undergoing assisted reproduction, and may be helpful in the determination of the starting dosage of FSH in in vitro fertilization.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 0, "end": 12}], "disease": [{"text": "infertile", "start": 97, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The relationship between programmed cell death (apoptosis), cell proliferation, and apoptosis regulatory genes (p53 and bcl-2), was studied in normal colonic epithelium, 26 sporadic adenomas both early and late, 25 FAP adenomas, and 34 carcinomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 112, "end": 115}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "POLG mutations cause a potentially painful, axonal/mixed, mainly sensory polyneuropathy; TYMP mutations lead to a demyelinating sensory-motor polyneuropathy; SURF1 mutations are associated with a demyelinating/mixed sensory-motor polyneuropathy.", "output": {"entities": {"gene": [{"text": "TYMP", "start": 89, "end": 93}], "disease": [{"text": "painful", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "These observations suggest that MIS regulates androgen-induced gene expression and growth in prostate cancer cells through a NFkappaB-dependent but Smad1-independent mechanism.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 148, "end": 153}], "disease": [{"text": "prostate cancer", "start": 93, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.", "output": {"entities": {"gene": [{"text": "NCAM1", "start": 131, "end": 136}], "disease": [{"text": "major depression", "start": 75, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NCAM1", "start": 131, "end": 136}, "tail": {"text": "major depression", "start": 75, "end": 91}}]}}, "schema": []}
{"input": "cIAP2 was positive in all MALT-lymphoma, over 90% of precursor B-cell LBL (94%), most BL (75%), LPL/WM (71%), and SLL/CLL (67%), and approximately 40% to 60% of follicular lymphoma, myeloma, and DLBCL.", "output": {"entities": {"gene": [{"text": "LPL", "start": 96, "end": 99}], "disease": [{"text": "follicular lymphoma", "start": 161, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In this study we addressed the role of the nuclear factor (NF)-kappaB1/p50 subunit in chronic injury of the liver by determining the inflammatory and fibrotic responses of nfkappab1-null mice in an experimental model that mimics chronic liver disease.", "output": {"entities": {"gene": [{"text": "p50", "start": 71, "end": 74}], "disease": [{"text": "chronic liver disease", "start": 229, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Embryonic form of smooth muscle myosin heavy chain (SMemb/MHC-B) in gastrointestinal stromal tumor and interstitial cells of Cajal.", "output": {"entities": {"gene": [{"text": "smooth muscle myosin heavy chain", "start": 18, "end": 50}], "disease": [{"text": "gastrointestinal stromal tumor", "start": 68, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "HMGA1 staining was not detected in normal ovarian surface epithelium, which is the area from which ovarian adenocarcinoma frequently arises.", "output": {"entities": {"gene": [{"text": "HMGA1", "start": 0, "end": 5}], "disease": [{"text": "ovarian adenocarcinoma", "start": 99, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Conversely, DNA hypomethylation has been associated with distal colon cancer (CLC).", "output": {"entities": {"gene": [{"text": "CLC", "start": 78, "end": 81}], "disease": [{"text": "colon cancer", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Using the cell-based reporter assay, we identified several oncogenic pathways modulated by sulforaphane in hypoxia by activating anticancer responses (p53, ARE, IRF-1, Pax-6 and XRE) and suppressing responses supporting tumor progression (AP-1 and HIF-1).", "output": {"entities": {"gene": [{"text": "AP-1", "start": 239, "end": 243}], "disease": [{"text": "hypoxia", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF), which is induced by hypoxia or cytokines, plays a critical role in the abnormal growth of blood vessels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "abnormal growth", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Multiple secreted proteins of A549 cells were identified in this study and the overexpression of ENO1 and PEBP in NSCLC was revealed for the first time.", "output": {"entities": {"gene": [{"text": "ENO1", "start": 97, "end": 101}], "disease": [{"text": "NSCLC", "start": 114, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ENO1", "start": 97, "end": 101}, "tail": {"text": "NSCLC", "start": 114, "end": 119}}]}}, "schema": []}
{"input": "Excessive erythrocytosis, caused by a lower oxygen saturation and hypoxic ventilatory response and/or ventilatory inefficiency, is the outstanding sign of CMS, and right ventricular enlargement, pulmonary hypertension, and remodeling of pulmonary arterioles are hallmarks of HAPH.", "output": {"entities": {"gene": [{"text": "CMS", "start": 155, "end": 158}], "disease": [{"text": "erythrocytosis", "start": 10, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to first evaluate the developmental abnormalities and carry out the molecular analysis of external genitalia in newborn hypospadiac male rats induced by maternal exposure to di-n-butyl phthalate (DBP).", "output": {"entities": {"gene": [{"text": "DBP", "start": 228, "end": 231}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We show that DICER expression is suppressed by hypoxia through an epigenetic mechanism that involves inhibition of oxygen-dependent H3K27me3 demethylases KDM6A/B and results in silencing of the DICER promoter.", "output": {"entities": {"gene": [{"text": "KDM6A", "start": 154, "end": 159}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcription polymerase chain reaction of RNA isolated from MPP (+)-treated human neuroblastoma SH-SY5Y cells identified changes in steady-state mRNA levels of the mitochondrial transcript for subunit 4 of complex I (ND4).", "output": {"entities": {"gene": [{"text": "ND4", "start": 226, "end": 229}], "disease": [{"text": "neuroblastoma", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in a putative promoter region of ORMDL3, which are associated with childhood asthma, alter transcriptional regulation of ORMDL3, correlate with changes in TH2 cytokines levels, and therefore might contribute to the childhood asthma susceptibility signal from 17q21.", "output": {"entities": {"gene": [{"text": "ORMDL3", "start": 47, "end": 53}], "disease": [{"text": "asthma susceptibility", "start": 239, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "There were independent effects of p22phox polymorphism on body mass index (BMI), neck circumference (NC), waist-to-hip ratio (WHR) in the OSAHS group, and the carriers of the T allele of p22phox polymorphism had greater NC, WHR, systolic blood pressure (SBP), diastolic blood pressure (DBP) and apnea-hypopnea index (AHI) (P < 0. 05), but the carriers of the T allele had lower SOD (P < 0. 01) and lowest SaO (2) (P = 0. 04).", "output": {"entities": {"gene": [{"text": "DBP", "start": 286, "end": 289}], "disease": [{"text": "systolic blood pressure", "start": 229, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that expression of RIOK3 (RIght Open reading frame kinase 3) was increased during hypoxic exposure in an HIF1α-dependent manner.", "output": {"entities": {"gene": [{"text": "RIOK3", "start": 34, "end": 39}], "disease": [{"text": "hypoxic", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Therefore, targeted sequencing of the polymerase genes POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3 and POLE4 was performed in 266 unrelated patients with polyposis or fulfilled Amsterdam criteria.", "output": {"entities": {"gene": [{"text": "POLE2", "start": 89, "end": 94}], "disease": [{"text": "polyposis", "start": 157, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Association testing was performed for physician-diagnosed asthma before the 7th birthday (asthma) using genotypes from 6, 500 individuals from the Exome Sequencing Project (ESP) as controls to gain statistical power.", "output": {"entities": {"gene": [{"text": "ESP", "start": 173, "end": 176}], "disease": [{"text": "asthma", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that UCP2 has a unique role in energy balance, body weight regulation and thermoregulation and their responses to inflammatory stimuli.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 26, "end": 30}], "disease": [{"text": "body weight", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that BCR-ABL1-positive MVs could initiate malignant transformation of normal hematopoietic transplants through genomic instability, which might serve as a convenient and operable model for investigating leukemogenesis, especially for DCL.", "output": {"entities": {"gene": [{"text": "BCR", "start": 21, "end": 24}], "disease": [{"text": "genomic instability", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype.", "output": {"entities": {"gene": [{"text": "SPG10", "start": 30, "end": 35}], "disease": [{"text": "SPG10", "start": 85, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG10", "start": 30, "end": 35}, "tail": {"text": "SPG10", "start": 85, "end": 90}}]}}, "schema": []}
{"input": "The identification of the alpha 1-antitrypsin deficiency state as the cause of a distinct type of panniculitis adds additional evidence for the elimination of the term Weber-Christian disease.", "output": {"entities": {"gene": [{"text": "alpha 1-antitrypsin", "start": 26, "end": 45}], "disease": [{"text": "Weber-Christian disease", "start": 168, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 1-antitrypsin", "start": 26, "end": 45}, "tail": {"text": "Weber-Christian disease", "start": 168, "end": 191}}]}}, "schema": []}
{"input": "Pre-diagnostic smoking behaviour and poorer prognosis in a German breast cancer patient cohort-Differential effects by tumour subtype, NAT2 status, BMI and alcohol intake.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 135, "end": 139}], "disease": [{"text": "smoking", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "We identified eight PTEN mutations, of which seven were novel, in 13 CD patients.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 20, "end": 24}], "disease": [{"text": "CD", "start": 69, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 20, "end": 24}, "tail": {"text": "CD", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "Both conditions show great variations during pregnancy that makes pregnancy a suitable condition to detect any metabolic abnormalities related to PPAR-gamma2 polymorphisms.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 146, "end": 150}], "disease": [{"text": "abnormalities", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We studied the effects of 8-weeks of intermittent hypoxia exposure on COX-pathway gene expression and atherosclerosis, and the influence of COX-1 inhibition by SC-560 on atherosclerosis progression in aortas of apolipoprotein E (-/-) mice.", "output": {"entities": {"gene": [{"text": "COX", "start": 70, "end": 73}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The most recent studies also suggest that neutrophil dysfunction additionally contributes to the increased susceptibility to lung infections seen in PAP.", "output": {"entities": {"gene": [{"text": "PAP", "start": 149, "end": 152}], "disease": [{"text": "neutrophil dysfunction", "start": 42, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Employing criteria previously established for EGFR copy number, patients with IGF1R amplification/high polysomy (n = 48; 27%) had 3-year survival of 58%, patients with low polysomy (n = 87; 48%) had 3-year survival of 47% and patients with trisomy/disomy (n = 46; 25%) had 3-year survival of 35%, respectively (P =. 024).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 46, "end": 50}], "disease": [{"text": "trisomy", "start": 240, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "We have investigated two kindreds with AHC and HHG for DAX1 mutations.", "output": {"entities": {"gene": [{"text": "DAX1", "start": 55, "end": 59}], "disease": [{"text": "AHC", "start": 39, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX1", "start": 55, "end": 59}, "tail": {"text": "AHC", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "A pathogenic mutation for probable Alzheimer' s disease in the APP gene at the N-terminus of beta-amyloid.", "output": {"entities": {"gene": [{"text": "APP", "start": 63, "end": 66}], "disease": [{"text": "Alzheimer' s disease", "start": 35, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APP", "start": 63, "end": 66}, "tail": {"text": "Alzheimer' s disease", "start": 35, "end": 55}}]}}, "schema": []}
{"input": "G protein-activated K + channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing.", "output": {"entities": {"gene": [{"text": "GIRK2", "start": 35, "end": 40}], "disease": [{"text": "depression", "start": 165, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GIRK2", "start": 35, "end": 40}, "tail": {"text": "depression", "start": 165, "end": 175}}]}}, "schema": []}
{"input": "CONCLUSIONS: Taken together, our data indicate that S-nitrosylation of parkin, leading to p53-mediated neuronal cell death, contributes to the pathophysiology of sporadic PD.", "output": {"entities": {"gene": [{"text": "p53", "start": 90, "end": 93}], "disease": [{"text": "sporadic", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In the postmenopausal groups, we observed a sixfold increase in the CALD1 gene expression in POP patients compared to asymptomatic controls (P = 0. 03).", "output": {"entities": {"gene": [{"text": "CALD1 gene", "start": 68, "end": 78}], "disease": [{"text": "asymptomatic", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Colorectal cancer risk associated with active smoking was elevated after accumulation of 30 (+) pack-years of smoking [odds ratio (OR), 1. 4; 95% confidence interval (95% CI), 0. 9-2. 2] but not significantly modified by either NAT1 or NAT2 genotype.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 236, "end": 240}], "disease": [{"text": "smoking", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Gene aberrations include translocation t (15, 19) (q13, p13. 1) fusion oncogene BRD4-NUT, DNA repair genes (ERCC1, ERCC2, XRCC1), TGFβ1 pathway activation genes (TGFB1, LTBP4), Dyrk1B, and potential oncogenesis protector genes such as NFkB pathway inhibition genes (NFKBIB, PPP1R13L) and EGLN2.", "output": {"entities": {"gene": [{"text": "PPP1R13L", "start": 274, "end": 282}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the effects of the naturally occurring berberine (the major constituent of Coptis chinensis) on the cell cycle, as well as on CDK1, cyclin B1, 14-3-3sigma, Wee1 and Cdc25c expressions, were investigated in the human promyelocytic leukemia HL-60 cells and in the murine myelomonocytic leukemia WEHI-3 cells.", "output": {"entities": {"gene": [{"text": "cyclin B1", "start": 154, "end": 163}], "disease": [{"text": "myelomonocytic leukemia", "start": 291, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "In the in-house dataset, HRD was predicted in 5% (20/385) of sporadic tumors luminal or HER2 + by the LST genomic signature and the inactivation of BRCA1, BRCA2 or RAD51C confirmed this prediction in 75% (12/16) of the tested cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 155, "end": 160}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.", "output": {"entities": {"gene": [{"text": "Ras-related protein Rab-7b", "start": 164, "end": 190}], "disease": [{"text": "ACS", "start": 504, "end": 507}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ras-related protein Rab-7b", "start": 164, "end": 190}, "tail": {"text": "ACS", "start": 504, "end": 507}}]}}, "schema": []}
{"input": "Downregulating TGFBRI expression reduced wound scarring, the extracellular matrix deposition of scar tissue, and decreased CTGF and α-smooth muscle actin mRNA expression in vivo.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 134, "end": 153}], "disease": [{"text": "scarring", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we demonstrated a pivotal role of H6PD in proliferation and migratory potential of 3 human breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "H6PD", "start": 56, "end": 60}], "disease": [{"text": "breast cancer", "start": 113, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "H6PD", "start": 56, "end": 60}, "tail": {"text": "breast cancer", "start": 113, "end": 126}}]}}, "schema": []}
{"input": "Effect of the vascular endothelial growth factor receptor-2 antibody DC101 plus gemcitabine on growth, metastasis and angiogenesis of human pancreatic cancer growing orthotopically in nude mice.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor receptor-2", "start": 14, "end": 59}], "disease": [{"text": "pancreatic cancer", "start": 140, "end": 157}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "vascular endothelial growth factor receptor-2", "start": 14, "end": 59}, "tail": {"text": "pancreatic cancer", "start": 140, "end": 157}}]}}, "schema": []}
{"input": "Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.", "output": {"entities": {"gene": [{"text": "apolipoprotein-A1", "start": 175, "end": 192}], "disease": [{"text": "lung tumor", "start": 123, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein-A1", "start": 175, "end": 192}, "tail": {"text": "lung tumor", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "We evaluated 107 subfertile patients, male partners of infertile couples, affected by non-obstructive azoospermia (n = 38) and oligoasthenoteratozoospermia (OAT) (n = 69), and 102 men with proven fertility.", "output": {"entities": {"gene": [{"text": "OAT", "start": 157, "end": 160}], "disease": [{"text": "infertile", "start": 55, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Data from these cell studies were further supported by in vivo observations that hypoxic tumor regions contained cells with a higher concentration of CD44 expression.", "output": {"entities": {"gene": [{"text": "CD44", "start": 150, "end": 154}], "disease": [{"text": "hypoxic", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "CDKN1C mutations lead to Beckwith Wiedemann syndrome (BWS, overgrowth syndrome) and in IMAGe syndrome which associates growth retardation and adrenal insufficiency.", "output": {"entities": {"gene": [{"text": "CDKN1C", "start": 0, "end": 6}], "disease": [{"text": "growth retardation", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Duration of fever at diagnosis of KD was significantly different between patients with Hp 2-2 (6. 4 +/-1. 2 days, n = 25) and with Hp1 allele (Hp 2-1 plus Hp 1-1; 8. 8 +/-3. 5 days, n = 22).", "output": {"entities": {"gene": [{"text": "Hp1", "start": 131, "end": 134}], "disease": [{"text": "fever", "start": 12, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Plant-based oral tolerance to hemophilia therapy employs a complex immune regulatory response including LAP + CD4 + T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 110, "end": 113}], "disease": [{"text": "hemophilia", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that VULM1457, as new member of ACAT family of inhibitors could negatively regulate cell proliferation induced by AM, which may correlate with down-regulation of membrane-bound AM receptors on HepG2 cells, and moreover, with the induction and expression of AM in hypoxia.", "output": {"entities": {"gene": [{"text": "ACAT", "start": 54, "end": 58}], "disease": [{"text": "hypoxia", "start": 285, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH).", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 58, "end": 64}], "disease": [{"text": "mild", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Given the distinct clinical and pathological characteristics, we believe that hematological neoplasms harboring BCR-JAK2 should be included as an additional distinct entity to the current WHO category of \" myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR \", and testing for a JAK2 fusion should be pursued in neoplasms with a karyotypic 9p24 abnormality.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 276, "end": 282}], "disease": [{"text": "abnormalities", "start": 259, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Moreover, significant reductions in Flk1 and GR protein levels were found in postmortem prefrontal cortex samples from schizophrenia subjects.", "output": {"entities": {"gene": [{"text": "Flk1", "start": 36, "end": 40}], "disease": [{"text": "schizophrenia", "start": 119, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Flk1", "start": 36, "end": 40}, "tail": {"text": "schizophrenia", "start": 119, "end": 132}}]}}, "schema": []}
{"input": "KCNS3 and LHX6 might be useful for characterizing cell-type specific molecular alterations of cortical GABA neurotransmission and for the development of novel treatments targeting PV and/or SST neurons in schizophrenia.", "output": {"entities": {"gene": [{"text": "LHX6", "start": 10, "end": 14}], "disease": [{"text": "schizophrenia", "start": 205, "end": 218}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LHX6", "start": 10, "end": 14}, "tail": {"text": "schizophrenia", "start": 205, "end": 218}}]}}, "schema": []}
{"input": "Correlation analysis showed that there were negative correlations between pulmonary function parameters and IFN-γ, Th1/Th2, STAT4 protein, and positive correlations between pulmonary function parameters and IL-4, IL-13, IL-4 mRNA, STAT6 protein (P < 0. 01 or P < 0. 05).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 207, "end": 211}], "disease": [{"text": "pulmonary function", "start": 74, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "270 unrelated probands with various forms of retinal degeneration including autosomal dominant and autosomal recessive retinitis pigmentosa (RP), autosomal dominant and autosomal recessive cone-rod dystrophy (CRD), and Leber' s congenital amaurosis (LCA), were screened for mutations in the SP4 gene.", "output": {"entities": {"gene": [{"text": "SP4 gene", "start": 291, "end": 299}], "disease": [{"text": "retinal degeneration", "start": 45, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Expression of human HtrA1, HtrA2, HtrA3 and TGF-beta1 genes was examined in ovarian tissue specimens including 19 normal ovaries, 20 benign tumors, 7 borderline tumors, 44 cancers and 8 Krukenberg tumors.", "output": {"entities": {"gene": [{"text": "HtrA3", "start": 34, "end": 39}], "disease": [{"text": "benign tumors", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "IL-6 blockade reduced CNS inflammation by limiting inflammatory cell proliferation; however, the relative frequencies of CNS leukocyte infiltrates, including the Th1, Th17, and Treg CD4 T cell subsets, were not altered.", "output": {"entities": {"gene": [{"text": "Th1", "start": 162, "end": 165}], "disease": [{"text": "inflammation", "start": 26, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Moreover, adenovirus-mediated overexpression of recombinant p21 (WAF1/CIP1) in TSU-Pr1 cells result in growth arrest, morphological change to microglia-like cells, and increased alpha-naphthyl acetate esterase activity, all of which are associated with cellular differentiation.", "output": {"entities": {"gene": [{"text": "Pr1", "start": 83, "end": 86}], "disease": [{"text": "adenovirus", "start": 10, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Frequent somatic mutations of the APC and p53 genes in sporadic ampullary carcinomas.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 42, "end": 51}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In particular, loop regions in SOD1 lose their restraint and become significantly disordered upon dissociation of metal ions and reduction of the disulfide bond.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 31, "end": 35}], "disease": [{"text": "dissociation", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "By microsatellite analysis, multiplex ligation-dependent probe amplification, and array comparative genomic hybridization a deletion including the CDKN2A, CDKN2B and CDKN2BAS gene cluster was detected in both twin sisters, encompassing a large region at 9p21. 3 and occurring de novo after the loss of one paternal allele. Patient B is a boy of 7 years when treated for astrocytoma then developing melanoma associated to congenital nevi on the head 10 years later: sequencing and multiplex ligation-dependent probe amplification revealed a normal profile of the CDKN2A/CDKN2B/CDKN2BAS region.", "output": {"entities": {"gene": [{"text": "CDKN2BAS", "start": 166, "end": 174}], "disease": [{"text": "nevi", "start": 432, "end": 436}]}, "relations": {}}, "schema": []}
{"input": "This inverse association remained even after adjustment for potential mediators including child environmental tobacco smoke exposure, birth size, postnatal weight and height changes, and adult smoking status and alcohol intake (β =-0. 22, 95% confidence interval =-0. 40 to-0. 03 for ever exposed to PTS vs. never exposed using models of log-transformed methylation levels).", "output": {"entities": {"gene": [{"text": "PTS", "start": 300, "end": 303}], "disease": [{"text": "weight", "start": 156, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The findings presented in this fetus are compatible with diagnosis of AARRS, expanding the mutational spectrum of limb malformations arising from defects in WNT7A.", "output": {"entities": {"gene": [{"text": "WNT7A", "start": 157, "end": 162}], "disease": [{"text": "AARRS", "start": 70, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT7A", "start": 157, "end": 162}, "tail": {"text": "AARRS", "start": 70, "end": 75}}]}}, "schema": []}
{"input": "Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.", "output": {"entities": {"gene": [{"text": "follicle-stimulating hormone receptor", "start": 24, "end": 61}], "disease": [{"text": "ovarian hyperstimulation syndrome", "start": 111, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "follicle-stimulating hormone receptor", "start": 24, "end": 61}, "tail": {"text": "ovarian hyperstimulation syndrome", "start": 111, "end": 144}}]}}, "schema": []}
{"input": "In familial pulmonary fibrosis, asymptomatic preclinical alveolar inflammation associated with mutation in TERT and telomerase insufficiency can progress to fibrotic lung disease over 2 to 3 decades.", "output": {"entities": {"gene": [{"text": "TERT", "start": 107, "end": 111}], "disease": [{"text": "asymptomatic", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies.", "output": {"entities": {"gene": [{"text": "BRI", "start": 318, "end": 321}], "disease": [{"text": "parkinsonism", "start": 263, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "The NEDD4L gene is located on human chromosome 18q21 within several blood pressure quantitative trait loci, including those for familial orthostatic hypotension, essential hypertension, pulse pressure, and systolic blood pressure response to postural challenge.", "output": {"entities": {"gene": [{"text": "NEDD4L gene", "start": 4, "end": 15}], "disease": [{"text": "blood pressure", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "When re-expressed in cancer cells in which endogenous fak is deleted by Cre-lox-mediated recombination, the RACK1-binding-impaired FAK mutant protein does not support formation of nascent actin adhesion structures as cells spread.", "output": {"entities": {"gene": [{"text": "RACK1", "start": 108, "end": 113}], "disease": [{"text": "adhesion", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "This replication effort identified five new SLE susceptibility loci (P & lt; 5 x 10 (-8)): TNIP1 (odds ratio (OR) = 1. 27), PRDM1 (OR = 1. 20), JAZF1 (OR = 1. 20), UHRF1BP1 (OR = 1. 17) and IL10 (OR = 1. 19).", "output": {"entities": {"gene": [{"text": "JAZF1", "start": 144, "end": 149}], "disease": [{"text": "SLE", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "JAZF1", "start": 144, "end": 149}, "tail": {"text": "SLE", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "In particular, CD5 + B cells which are capable of producing natural antibodies with autoreactive specificities are likely to be important in the development of HCV-associated autoimmunity and lymphoproliferation.", "output": {"entities": {"gene": [{"text": "CD5", "start": 15, "end": 18}], "disease": [{"text": "autoimmunity", "start": 175, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that knockdown of Epha4 also rescues the axonopathy induced by expression of mutant TAR DNA-binding protein 43 (TDP-43), another protein causing familial ALS, and the axonopathy induced by knockdown of survival of motor neuron 1, a model for spinomuscular atrophy.", "output": {"entities": {"gene": [{"text": "Epha4", "start": 40, "end": 45}], "disease": [{"text": "ALS", "start": 176, "end": 179}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Epha4", "start": 40, "end": 45}, "tail": {"text": "ALS", "start": 176, "end": 179}}]}}, "schema": []}
{"input": "Taken together, this study identifies a novel Akt2-dependent pathway that is activated by hypoxia and promotes tumor resistance via induction of miR-21.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 145, "end": 151}], "disease": [{"text": "hypoxia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that JME mutations, including F229L, do not alter the ability of EFHC1 to colocalize with the centrosome and the mitotic spindle, but act in a dominant-negative manner to impair mitotic spindle organization.", "output": {"entities": {"gene": [{"text": "EFHC1", "start": 79, "end": 84}], "disease": [{"text": "JME", "start": 19, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFHC1", "start": 79, "end": 84}, "tail": {"text": "JME", "start": 19, "end": 22}}]}}, "schema": []}
{"input": "These results indicate that inactivation of C3G by de novo methylation plays an important role in the development of cervical squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "C3G", "start": 44, "end": 47}], "disease": [{"text": "cervical squamous cell carcinoma", "start": 117, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In the monoiodoacetic acid-induced arthritis model, anti-FGF8 antibody reduced ECM release into the synovial cavity.", "output": {"entities": {"gene": [{"text": "ECM", "start": 79, "end": 82}], "disease": [{"text": "arthritis", "start": 35, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that increased number of BDNF Met alleles was associated with increased aggressive behaviour.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 44, "end": 48}], "disease": [{"text": "aggressive behaviour", "start": 91, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "If a two-hit mutational mechanism is operational, these results suggest that the majority of somatic mutations in adult PKD1 are likely to be missense changes.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 120, "end": 124}], "disease": [{"text": "hit", "start": 9, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis showed chromosomal translocation t (11; 22) (q24; q12) or EWS/FLI-1 rearrangement in the malignant cells of the eye.", "output": {"entities": {"gene": [{"text": "EWS", "start": 77, "end": 80}], "disease": [{"text": "chromosomal translocation", "start": 26, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Instead of the conventional gene-specific approach with Sanger sequencing, we used whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c. 146C & gt; T, p. Thr49Me) in DKC1.", "output": {"entities": {"gene": [{"text": "DKC1", "start": 273, "end": 277}], "disease": [{"text": "Hoyeraal-Hreidarsson syndrome", "start": 162, "end": 191}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DKC1", "start": 273, "end": 277}, "tail": {"text": "Hoyeraal-Hreidarsson syndrome", "start": 162, "end": 191}}]}}, "schema": []}
{"input": "A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "sigma-1 receptor", "start": 14, "end": 30}], "disease": [{"text": "juvenile amyotrophic lateral sclerosis", "start": 38, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "sigma-1 receptor", "start": 14, "end": 30}, "tail": {"text": "juvenile amyotrophic lateral sclerosis", "start": 38, "end": 76}}]}}, "schema": []}
{"input": "Protein C, S, antithrombin III, anticardiolipin antibodies and fibrinogen were normal.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 14, "end": 30}], "disease": [{"text": "fibrinogen", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Monoclonal antibodies to CD11a, CD11b, CD18, and ICAM-1 caused varying degrees of inhibition of neutrophil adhesion.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 25, "end": 30}], "disease": [{"text": "adhesion", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "One nodule-in-nodule HCC sample was obtained from a patient to analyze the different expression in well-to moderately differentiated HCC and poorly differentiated HCC using microarray technique.", "output": {"entities": {"gene": [{"text": "HCC", "start": 21, "end": 24}], "disease": [{"text": "nodule", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Laminin & #947;-1 was decreased in MV and increased in M. In conclusion, similarities and differences in oxidative stress in the different aortopathies studied including pathologies with aneurysms were found with alterations in SOD, CAT, GPx, GST, and eNOS activity that modify subendothelial basement membrane proteins.", "output": {"entities": {"gene": [{"text": "CAT", "start": 233, "end": 236}], "disease": [{"text": "MV", "start": 35, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAT", "start": 233, "end": 236}, "tail": {"text": "MV", "start": 35, "end": 37}}]}}, "schema": []}
{"input": "To determine whether the M235--> T polymorphism (exon 2) of the angiotensinogen gene is associated with hypertension in elderly patients with isolated systolic hypertension [ISH: systolic blood pressure (SBP) > or = 160 mmHg, diastolic blood pressure (DBP) < 90 mmHg) or systolic-diastolic hypertension (SDH: DBP > or = 90 mmHg, SBP > or = 160 mmHg) compared with normotensive controls (SBP < 160 mmHg, DBP < 90 mmHg).", "output": {"entities": {"gene": [{"text": "DBP", "start": 252, "end": 255}], "disease": [{"text": "systolic blood pressure", "start": 179, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "LPS induced a dramatic leukopenia at 4 h after challenge, which was blunted in NPY-treated animals by stabilizing granulocyte and T-lymphocyte numbers.", "output": {"entities": {"gene": [{"text": "NPY", "start": 79, "end": 82}], "disease": [{"text": "leukopenia", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We analyzed reconstitution characteristics of plasmacytoid dendritic cells (PDCs) and myeloid DCs-1 in 38 HIV-1-infected patients with impaired restoration of CD4 T cell counts despite prolonged suppression of plasma viremia (discordant) and compared them with 42 patients showing good immunological and virological responses following highly active antiretroviral therapy (HAART).", "output": {"entities": {"gene": [{"text": "CD4", "start": 159, "end": 162}], "disease": [{"text": "viremia", "start": 217, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "This observation is likely to relate to the findings that TAL1 and LMO are highly synergistic in T-cell tumorigenesis in double-transgenic mice.", "output": {"entities": {"gene": [{"text": "TAL1", "start": 58, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Our finding that FOXM1 is upregulated early during oral cancer progression renders FOXM1 an attractive diagnostic biomarker for early cancer detection and its candidate mechanistic targets, CEP55 and HELLS, as indicators of malignant conversion and progression.", "output": {"entities": {"gene": [{"text": "CEP55", "start": 190, "end": 195}], "disease": [{"text": "oral cancer", "start": 51, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Promoter methylation as a common mechanism for inactivating E-cadherin in human salivary gland adenoid cystic carcinoma.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 60, "end": 70}], "disease": [{"text": "salivary gland adenoid cystic carcinoma", "start": 80, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The results showed that hypoxia upregulated HIF-1α, GPER and α-SMA expression in CAFs, and induced the secretion of Interleukin-6 (IL-6), vascular endothelial growth factor (VEGF) and connective tissue growth factor (CTGF) in CAFs.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 217, "end": 221}], "disease": [{"text": "hypoxia", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "When we used elevation of either CDT or GGT to detect habitual drinking in ALDH2 (1)/2 (1) and 2 (1)/2 (2) subjects, the sensitivities were 57% and 46%, respectively.", "output": {"entities": {"gene": [{"text": "GGT", "start": 40, "end": 43}], "disease": [{"text": "drinking", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that SIRT1 reduces neuronal loss in this chronic demyelinating disease model and that this is associated with a reduction in inflammation.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 27, "end": 32}], "disease": [{"text": "demyelinating disease", "start": 71, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 27, "end": 32}, "tail": {"text": "demyelinating disease", "start": 71, "end": 92}}]}}, "schema": []}
{"input": "Purkinje cell protein 4 (PCP4) is a calmodulin (CaM)-binding protein that accelerates calcium association and dissociation with CaM.", "output": {"entities": {"gene": [{"text": "PCP4", "start": 25, "end": 29}], "disease": [{"text": "dissociation", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Inhibiting mda-9/syntenin, using an adenovirus expressing antisense mda-9/syntenin, NF-kappaB, using an adenovirus expressing a mutant super-repressor of IkappaBalpha, or FAK, and using a dominant-negative mutant of FAK (FRNK), blocks melanoma cell migration, anchorage-independent growth, and invasion.", "output": {"entities": {"gene": [{"text": "syntenin", "start": 17, "end": 25}], "disease": [{"text": "adenovirus", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In order to clarify whether neutrophil elastase distributes into the brain parenchyma and exacerbates neuronal damage following ischemia, we examined the effects of specific neutrophil elastase inhibitor, ONO-5046, on hippocampal CA1 neuronal death in relation to neutrophil elastase activity in the plasma and its distribution in the brain and to caspase-3/7 activity.", "output": {"entities": {"gene": [{"text": "CA1", "start": 230, "end": 233}], "disease": [{"text": "ischemia", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Splenic small B-cell lymphoma with IGH/BCL3 translocation.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 39, "end": 43}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In summary, we provide evidence for a mechanism by which ethanol triggers TLR4/TLR2 association contributing to the neuroinflammation and neurodegeneration associated with alcohol abuse.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 79, "end": 83}], "disease": [{"text": "alcohol abuse", "start": 172, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR2", "start": 79, "end": 83}, "tail": {"text": "alcohol abuse", "start": 172, "end": 185}}]}}, "schema": []}
{"input": "Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.", "output": {"entities": {"gene": [{"text": "SLC26A3", "start": 39, "end": 46}], "disease": [{"text": "congenital chloride diarrhea", "start": 79, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A3", "start": 39, "end": 46}, "tail": {"text": "congenital chloride diarrhea", "start": 79, "end": 107}}]}}, "schema": []}
{"input": "Each of the BRCA1-associated cancers with Chk2 mutations also contained mutations in p53, whereas the single sporadic cancer with Chk2 mutation was wild-type for p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 85, "end": 88}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The worldwide burden of tuberculosis (TB) remains an enormous problem, and is particularly severe in the admixed South African Coloured (SAC) population residing in the Western Cape.", "output": {"entities": {"gene": [{"text": "SAC", "start": 137, "end": 140}], "disease": [{"text": "tuberculosis", "start": 24, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Lysyl oxidase (LOX), a copper-dependent amine oxidase known to function both intracellularly and extracellularly, is implicated in promoting tumor progression and hypoxic metastasis in certain malignancies.", "output": {"entities": {"gene": [{"text": "LOX", "start": 15, "end": 18}], "disease": [{"text": "hypoxic", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "A meta analysis of six individual studies in which somatostatin was given for acute pancreatitis showed that somatostatin significantly reduces mortality.", "output": {"entities": {"gene": [{"text": "somatostatin", "start": 51, "end": 63}], "disease": [{"text": "pancreatitis", "start": 84, "end": 96}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "somatostatin", "start": 51, "end": 63}, "tail": {"text": "pancreatitis", "start": 84, "end": 96}}]}}, "schema": []}
{"input": "We hypothesize that subclinical atherosclerosis, measured as coronary artery calcification (CAC), will be extensive in individuals with type 2 diabetes and that its presence depends on both genetic and environmental factors.", "output": {"entities": {"gene": [{"text": "CAC", "start": 92, "end": 95}], "disease": [{"text": "coronary artery calcification", "start": 61, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Higher DNMT3a immunopositivity may be associated with oral SCC and alcohol use, whilst lower levels of DNMT1 may be related with smoking habit.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 103, "end": 108}], "disease": [{"text": "alcohol use", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The site of first DM is different between BRCA1-and BRCA2-associated and sporadic BC patients.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 52, "end": 57}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Chronic alcohol consumption up-regulated the hepatic expression of genes involved in inflammation, fatty acid synthesis, and cholesterol metabolism, including tumor necrosis factor alpha (TNFalpha), liver X receptor alpha (LXRalpha), sterol regulatory element-binding protein (SREBP)-1c, fatty acid synthase, acetyl-coenzyme A carboxylase alpha (ACC), stearoyl-coenzyme A desaturase 1, 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGR), and low-density lipoprotein receptor (LDLR).", "output": {"entities": {"gene": [{"text": "LDLR", "start": 480, "end": 484}], "disease": [{"text": "alcohol consumption", "start": 8, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We measured serum anti-UACA antibody titer using ELISA in patients with autoimmune thyroid diseases (Graves' disease, Hashimoto' s thyroiditis, subacute thyroiditis, and silent thyroiditis).", "output": {"entities": {"gene": [{"text": "UACA", "start": 23, "end": 27}], "disease": [{"text": "subacute thyroiditis", "start": 144, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We argue that the chromosomal instability and cancer predisposition provoked by BRCA2 inactivation are a consequence of the failure to re-start stalled DNA replication, and to repair DNA double-strand breaks, through error-free pathways that depend on homologous pairing between DNA strands.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 80, "end": 85}], "disease": [{"text": "chromosomal instability", "start": 18, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, a similar impairment in microgliosis has been reported in mouse models of prion disease, stroke, and multiple sclerosis, suggesting a critical role for TREM2 in supporting microgliosis in response to pathology in the central nervous system.", "output": {"entities": {"gene": [{"text": "TREM2", "start": 167, "end": 172}], "disease": [{"text": "prion disease", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, animals transfused with blood from IVAG-infected macaques drawn 2 weeks after inoculation suffered a more profound and sustained CD4 (+) T-cell loss, persistent plasma viremia, and the development of SAIDS in one animal, indicating that IVAG-passaged SHIVSF33A was pathogenic.", "output": {"entities": {"gene": [{"text": "CD4", "start": 142, "end": 145}], "disease": [{"text": "viremia", "start": 181, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Mutant mice died 2 to 3 weeks after birth, with clinical signs of CIPO and hyperplasia and hypertrophy of ENCs resulting from increased activity of the PI3K/PTEN-AKT-S6K signaling pathway.", "output": {"entities": {"gene": [{"text": "S6K", "start": 166, "end": 169}], "disease": [{"text": "hyperplasia", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "However, the role of CDK2 in tumorigenesis is controversial.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 21, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "HLA-DPB1 glutamate 69: a genetic marker of beryllium disease.", "output": {"entities": {"gene": [{"text": "HLA-DPB1", "start": 0, "end": 8}], "disease": [{"text": "beryllium disease", "start": 43, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLA-DPB1", "start": 0, "end": 8}, "tail": {"text": "beryllium disease", "start": 43, "end": 60}}]}}, "schema": []}
{"input": "Mutations in a human cardiac Na + channel gene (SCN5A) are responsible for chromosome 3-linked congenital long QT syndrome (LQT3).", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 48, "end": 53}], "disease": [{"text": "LQT3", "start": 124, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 48, "end": 53}, "tail": {"text": "LQT3", "start": 124, "end": 128}}]}}, "schema": []}
{"input": "In spite of structural and functional similarities between LRRC6 and DNAAF1, another LRR-containing protein involved in the same PCD phenotype, the two proteins are not redundant.", "output": {"entities": {"gene": [{"text": "LRRC6", "start": 59, "end": 64}], "disease": [{"text": "PCD", "start": 129, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRRC6", "start": 59, "end": 64}, "tail": {"text": "PCD", "start": 129, "end": 132}}]}}, "schema": []}
{"input": "In a mouse model of obstructive nephropathy, administration of QLT-0267 inhibited beta-catenin accumulation; suppressed Snail1, alpha-smooth muscle actin, fibronectin, vimentin, and type I and type III collagen expression; and reduced total tissue collagen content.", "output": {"entities": {"gene": [{"text": "Snail1", "start": 120, "end": 126}], "disease": [{"text": "obstructive nephropathy", "start": 20, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Expression of wild-type but not mutant MMP8 in human melanoma cells inhibited growth on soft agar in vitro and tumor formation in vivo, suggesting that wild-type MMP-8 has the ability to inhibit melanoma progression.", "output": {"entities": {"gene": [{"text": "MMP8", "start": 39, "end": 43}], "disease": [{"text": "melanoma", "start": 53, "end": 61}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MMP8", "start": 39, "end": 43}, "tail": {"text": "melanoma", "start": 53, "end": 61}}]}}, "schema": []}
{"input": "Knockdown of FAM5C by small interfering RNA inhibited the increase in the TNF-α-induced production of ROS, NF-κB activity and expression of these leukocyte adhesion molecule mRNAs, resulting in reduced monocyte adhesion.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 107, "end": 112}], "disease": [{"text": "adhesion", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In 38 patients with biliary carcinoma (gallbladder carcinoma, extra-hepatic and intra-hepatic cholangiocarcinoma and ampullary carcinoma), we measured serum RCAS1 and CA19-9 levels.", "output": {"entities": {"gene": [{"text": "RCAS1", "start": 157, "end": 162}], "disease": [{"text": "gallbladder carcinoma", "start": 39, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Here we investigated methylation of the Cripto promoter in mouse germ cells and human germ cell cancer and correlated this with the level of CRIPTO protein expression.", "output": {"entities": {"gene": [{"text": "CRIPTO", "start": 141, "end": 147}], "disease": [{"text": "germ cell cancer", "start": 86, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Thus, ATP7A confers resistance to various anticancer agents on cancer cells and might be a good index of drug resistance in clinical colon cancers.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 6, "end": 11}], "disease": [{"text": "colon cancers", "start": 133, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP7A", "start": 6, "end": 11}, "tail": {"text": "colon cancers", "start": 133, "end": 146}}]}}, "schema": []}
{"input": "As compared to sporadic patients, BRCA2-associated patients had a significantly higher OR (89% v 50%; P =. 001), a longer PFS (hazard ratio multivariate [HR (mult)] 0. 64; P =. 04) and a prolonged OS (HR (mult), 0. 53; P =. 005) after start of first-line chemotherapy for metastatic breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 34, "end": 39}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Activation of p53 mediated pathways in the glia of HAD patients may contribute to the neuroinflammatory processes that promote neurodegeneration by inhibiting glial proliferation and/or promoting glial cell dysfunction.", "output": {"entities": {"gene": [{"text": "HAD", "start": 51, "end": 54}], "disease": [{"text": "neurodegeneration", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "We investigated the role of PLK1 in the cell response to CPTs in squamous cell carcinoma (SCC) and pediatric sarcoma cell lines and explored the therapeutic potential of the combination of CPT11 and the PLK1 inhibitor BI2536 in CPT-sensitive and-resistant tumor models.", "output": {"entities": {"gene": [{"text": "PLK1", "start": 28, "end": 32}], "disease": [{"text": "sarcoma", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results clearly demonstrate that NF-κB signalling facilitates BACE1 gene expression and APP processing, and increased BACE1 expression mediated by NF-κB signalling in the brain could be one of the novel molecular mechanisms underlying the development of AD in some sporadic cases.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 53, "end": 58}], "disease": [{"text": "sporadic", "start": 285, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings suggest that RACK1 and BDNF are part of a regulatory pathway that opposes adaptations that lead to the development of alcohol addiction.", "output": {"entities": {"gene": [{"text": "RACK1", "start": 44, "end": 49}], "disease": [{"text": "alcohol addiction", "start": 149, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RACK1", "start": 44, "end": 49}, "tail": {"text": "alcohol addiction", "start": 149, "end": 166}}]}}, "schema": []}
{"input": "The discovery of this alternative circuit that regulates ingestive behavior without inducing taste aversion may open the possibility of a therapeutic application of PYY for the treatment of obesity via direct oral application.", "output": {"entities": {"gene": [{"text": "PYY", "start": 165, "end": 168}], "disease": [{"text": "ingestive behavior", "start": 57, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Our results indicated that miR-21 expression was elevated in asymptomatic high-risk individuals (2. 98-fold) compared with healthy non-risk controls (p < 0. 001), and was increased in almost all sera of cancer patients (12. 72-fold) compared with healthy controls (p < 0. 001).", "output": {"entities": {"gene": [{"text": "miR-21", "start": 27, "end": 33}], "disease": [{"text": "asymptomatic", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p & #8201; & lt; & #8201; 10 (-3) using single trait analysis and AD.", "output": {"entities": {"gene": [{"text": "THEMIS", "start": 45, "end": 51}], "disease": [{"text": "AD", "start": 201, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "THEMIS", "start": 45, "end": 51}, "tail": {"text": "AD", "start": 201, "end": 203}}]}}, "schema": []}
{"input": "Our results implicate endogenous wild-type HTT in adult hippocampal neurogenesis and in the control of mood disorders.", "output": {"entities": {"gene": [{"text": "HTT", "start": 43, "end": 46}], "disease": [{"text": "mood disorders", "start": 103, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HTT", "start": 43, "end": 46}, "tail": {"text": "mood disorders", "start": 103, "end": 117}}]}}, "schema": []}
{"input": "Telomerase was positive in 76% of HCC and 11. 8% of chronic hepatitis patients (P < 0. 0001).", "output": {"entities": {"gene": [{"text": "HCC", "start": 34, "end": 37}], "disease": [{"text": "chronic hepatitis", "start": 52, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In a study of humans with severe, early-onset obesity, we found four rare, potentially pathogenic genetic variants in MRAP2, suggesting that the gene may also contribute to body weight regulation in humans.", "output": {"entities": {"gene": [{"text": "MRAP2", "start": 118, "end": 123}], "disease": [{"text": "body weight", "start": 173, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The Nodal co-receptor Cripto is expressed transiently during normal germ cell development and is ectopically expressed in non-seminomas that arise from germ cell neoplasia in situ, suggesting that its aberrant expression may underlie germ cell dysregulation and hence germ cell cancer.", "output": {"entities": {"gene": [{"text": "Cripto", "start": 22, "end": 28}], "disease": [{"text": "germ cell cancer", "start": 268, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis was performed to determine BRCA1 and the apoptosis-related proteins bcl-2, Bax and p53 in paraffin-embedded tissues of 156 sporadic invasive ductal carcinomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 112, "end": 115}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "] AMT PET and FLAIR MRI improve the detection of potentially epileptogenic tubers in patients with TSC being evaluated for epilepsy surgery.", "output": {"entities": {"gene": [{"text": "MRI", "start": 20, "end": 23}], "disease": [{"text": "epilepsy", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "A long-term high-fat diet also induced glucose intolerance as well as a significant reduction in mitochondrial DNA and protein content in neil1 (-/-) mice.", "output": {"entities": {"gene": [{"text": "neil1", "start": 138, "end": 143}], "disease": [{"text": "glucose intolerance", "start": 39, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neil1", "start": 138, "end": 143}, "tail": {"text": "glucose intolerance", "start": 39, "end": 58}}]}}, "schema": []}
{"input": "Using an immunohistochemical procedure, MUC5B apomucin was detected in 34/42 (81%) primary breast tumors, in 13/14 (92. 8%) samples of non-malignant breast diseases, in 8/19 (42. 1%) samples of normal-appearing breast epithelia adjacent to cancer, and in 0/5 normal control breast samples.", "output": {"entities": {"gene": [{"text": "MUC5B", "start": 40, "end": 45}], "disease": [{"text": "breast diseases", "start": 149, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Resolution of fibrosis was impaired in macrophage fas-induced apoptosis mice but increased after overexpression of CXCL9.", "output": {"entities": {"gene": [{"text": "CXCL9", "start": 115, "end": 120}], "disease": [{"text": "fas", "start": 50, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.", "output": {"entities": {"gene": [{"text": "P450c1", "start": 43, "end": 49}], "disease": [{"text": "pseudovitamin D-deficiency rickets", "start": 79, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "P450c1", "start": 43, "end": 49}, "tail": {"text": "pseudovitamin D-deficiency rickets", "start": 79, "end": 113}}]}}, "schema": []}
{"input": "Interestingly, insulin sensitivity (oral glucose tolerance test: P = 0. 99; clamp: P = 0. 32), serum C-reactive protein levels, lipids, or liver enzymes (all P > 0. 14) were not different among the genotypes.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 101, "end": 119}], "disease": [{"text": "insulin sensitivity", "start": 15, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "However, the extent to which loss of BRCA1 or BRCA2 function occurs in sporadic cancer has not yet been determined.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 46, "end": 51}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which causes glaucoma.", "output": {"entities": {"gene": [{"text": "ARA", "start": 77, "end": 80}], "disease": [{"text": "glaucoma", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Finally, the SNP array analysis revealed that more than two thirds of the samples exhibited polyploidy that was unrecognized by conventional FISH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 141, "end": 145}], "disease": [{"text": "polyploidy", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants in cytokine genes, such as IL-4, IL-13, IL-33, and IL-18 influence the response to vaccines in children and are also associated with atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 50, "end": 55}], "disease": [{"text": "atopy", "start": 150, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic modifications of histone H4 were studied by immunohistochemistry in normal lung and 157 lung carcinoma using antibodies specifically recognizing the acetylated (Ac) lysines 5 (K5), K8, K12, K16, and trimethylated (me3) K20 residues of histone H4.", "output": {"entities": {"gene": [{"text": "K12", "start": 196, "end": 199}], "disease": [{"text": "lung carcinoma", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "It demonstrated that apoM expression was significantly positively correlated to the placental weight, fetal birth weight, pregestational body mass index (BMI), weight gain during pregnancy, maternal weight, maternal BMI and the mRNA levels of IGF-IR as well as IGF-IIR.", "output": {"entities": {"gene": [{"text": "IGF", "start": 243, "end": 246}], "disease": [{"text": "weight gain", "start": 160, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that B7h triggering via a soluble form of ICOS (ICOS-Fc) inhibits the adhesion of polymorphonuclear and tumor cell lines to HUVECs; thus, we suggested that ICOS-Fc may act as an anti-inflammatory and antitumor agent.", "output": {"entities": {"gene": [{"text": "B7h", "start": 30, "end": 33}], "disease": [{"text": "adhesion", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "COX-2 and SCD, markers of inflammation and adipogenesis, are related to disease activity in Graves' ophthalmopathy.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 0, "end": 5}], "disease": [{"text": "Graves' ophthalmopathy", "start": 92, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 0, "end": 5}, "tail": {"text": "Graves' ophthalmopathy", "start": 92, "end": 114}}]}}, "schema": []}
{"input": "Using bisulfite sequencing, we determined the degree of methylation of the IGF2/H19 imprinting control region 1 (ICR1) and MEST differentially methylated regions in swim-up purified spermatozoa from 148 idiopathic infertile men and 33 normozoospermic controls.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 75, "end": 79}], "disease": [{"text": "infertile", "start": 214, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "To test whether genetic variants in IRF2 predict risk of atopic dermatitis (AD) and ADEH (atopic dermatitis complicated by eczema herpeticum), we genotyped 78 IRF2 tagging single-nucleotide polymorphisms (SNPs) in both European-American (n = 435) and African-American (n = 339) populations.", "output": {"entities": {"gene": [{"text": "IRF2", "start": 36, "end": 40}], "disease": [{"text": "eczema herpeticum", "start": 123, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, SNP (rs10493256) in the FLJ10986 gene appears to increase the risk of developing sporadic ALS in our Chinese population.", "output": {"entities": {"gene": [{"text": "FLJ10986", "start": 39, "end": 47}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial reactive oxygen species generation by the SDHC V69E mutation causes low birth weight and neonatal growth retardation.", "output": {"entities": {"gene": [{"text": "SDHC", "start": 56, "end": 60}], "disease": [{"text": "growth retardation", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Thus, variants of the SPP1 promoter might influence the risk of glioma by regulating promoter activity.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 22, "end": 26}], "disease": [{"text": "glioma", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "SAT1 cortical expression levels were also found to be significantly lower in an independent sample of German subjects with major depression who died by suicide in comparison with controls.", "output": {"entities": {"gene": [{"text": "SAT1", "start": 0, "end": 4}], "disease": [{"text": "major depression", "start": 123, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAT1", "start": 0, "end": 4}, "tail": {"text": "major depression", "start": 123, "end": 139}}]}}, "schema": []}
{"input": "Interactions between sphingosine-1-phosphate and vascular endothelial growth factor signalling in ML-1 follicular thyroid carcinoma cells.", "output": {"entities": {"gene": [{"text": "ML-1", "start": 98, "end": 102}], "disease": [{"text": "follicular thyroid carcinoma", "start": 103, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 24, "end": 28}], "disease": [{"text": "Marfan syndrome", "start": 70, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 24, "end": 28}, "tail": {"text": "Marfan syndrome", "start": 70, "end": 85}}]}}, "schema": []}
{"input": "Studies have shown a link between single-nucleotide polymorphisms (SNPs) in the endothelial nitric oxide synthase (eNOS) gene and the incidence of coronary spasm and aneurysms.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 80, "end": 113}], "disease": [{"text": "aneurysms", "start": 166, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In patients with only coma (n = 15), only delirium (n = 7), and neither ever (n = 14), we measured plasma levels of tumor necrosis factor-& #945;, interleukin (IL)-1 & #946;, IL-1RA, IL-6, IL-8, IL-10, IL-17, macrophage inflammatory protein-1 & #946;, and monocyte chemotactic protein-1.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 189, "end": 193}], "disease": [{"text": "delirium", "start": 42, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-8", "start": 189, "end": 193}, "tail": {"text": "delirium", "start": 42, "end": 50}}]}}, "schema": []}
{"input": "Antagonizing MIF' s activity with a systemic MIF tautomerase inhibitor was able to prevent or greatly reduced chemical cystitis in mice, thus indicating the MIF mediates bladder inflammation in this model.", "output": {"entities": {"gene": [{"text": "MIF", "start": 13, "end": 16}], "disease": [{"text": "bladder inflammation", "start": 170, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "In this report, we show functional CaR expression in a human astrocytoma cell line (U87).", "output": {"entities": {"gene": [{"text": "U87", "start": 84, "end": 87}], "disease": [{"text": "astrocytoma", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "On immunoblotting, platelet CBFA2, PKC-, albumin, and IgG were decreased, but pleckstrin, PKC-alpha,-betaI,-betaII,-eta,-epsilon,-delta, and-zeta, and fibrinogen were normal.", "output": {"entities": {"gene": [{"text": "CBFA2", "start": 28, "end": 33}], "disease": [{"text": "fibrinogen", "start": 151, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "To address changes in the methylation profiles of multiple genes during colorectal carcinogenesis, we investigated the methylation of 12 genes (APC, COX-2, DAP-kinase, E-cadherin, GSTP1, hMLH1, MGMT, p14, p16, RASSF1A, THBS1, and TIMP3) in normal colon (n = 24), colon adenoma (n = 95), and colorectal cancer (n = 149), using methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "DAP", "start": 156, "end": 159}], "disease": [{"text": "colon adenoma", "start": 263, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "For TNF and IL-10, there was little difference between the two groups unless the effect of smoking was considered.", "output": {"entities": {"gene": [{"text": "TNF", "start": 4, "end": 7}], "disease": [{"text": "smoking", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "In TP (-/-) mice, the changes in ALT levels were similar to WT mice, but liver regeneration was impaired as evidenced by remained elevated levels of hepatic necrosis and by delayed hepatocyte proliferation, which was associated with the reduced expression of growth factors including interleukin-6 (IL-6), tumor necrosis factor alpha (TNFα), and hepatocyte growth factor (HGF).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 299, "end": 303}], "disease": [{"text": "hepatic necrosis", "start": 149, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The negative effect of this site is abolished in obese rat adipocyte nuclei where SREBP2 is induced and can substitute for ADD1/SREBP1 binding to the inactive SRE.", "output": {"entities": {"gene": [{"text": "ADD1", "start": 123, "end": 127}], "disease": [{"text": "obese", "start": 49, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We have studied a sample of 39 CF patients of Tunisian origin and have used a GC clamp DGGE assay to scan the CFTR gene.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 110, "end": 114}], "disease": [{"text": "CF", "start": 31, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 110, "end": 114}, "tail": {"text": "CF", "start": 31, "end": 33}}]}}, "schema": []}
{"input": "On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H.", "output": {"entities": {"gene": [{"text": "TRIM32", "start": 83, "end": 89}], "disease": [{"text": "LGMD2H", "start": 187, "end": 193}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM32", "start": 83, "end": 89}, "tail": {"text": "LGMD2H", "start": 187, "end": 193}}]}}, "schema": []}
{"input": "To our knowledge this is the first report demonstrating a correlation between MIA expression and pigmentation and morphology of melanocytic cells.", "output": {"entities": {"gene": [{"text": "MIA", "start": 78, "end": 81}], "disease": [{"text": "pigmentation", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In contrast, cell damage (assessed with Fluoro-Jade B, silver impregnation and anti-caspase 3 immunohistochemistry) was significantly lower in TgFGF2 mice, especially in the areas of overexpression (CA1 and CA3), indicating reduction of seizure-induced necrosis and apoptosis.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 84, "end": 93}], "disease": [{"text": "necrosis", "start": 253, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Increased VGluT1 expression is supportive of elevated glutamate neurotransmission in the anterior cingulate cortex in bipolar disorder.", "output": {"entities": {"gene": [{"text": "VGluT1", "start": 10, "end": 16}], "disease": [{"text": "bipolar disorder", "start": 118, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGluT1", "start": 10, "end": 16}, "tail": {"text": "bipolar disorder", "start": 118, "end": 134}}]}}, "schema": []}
{"input": "Angelman syndrome (AS) is a neurodevelopmental disorder caused by failure of expression of the maternal copy of the imprinted UBE3A gene through a variety of mechanisms detected by methylation studies, mutation analysis of UBE3A and FISH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 233, "end": 237}], "disease": [{"text": "neurodevelopmental disorder", "start": 28, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Recently the finding of an increased frequency of the B3 allotype of the fourth component of complement C4B3 in subjects with retinopathy has suggested that there is an HLA linked association.", "output": {"entities": {"gene": [{"text": "C4B3", "start": 104, "end": 108}], "disease": [{"text": "retinopathy", "start": 126, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Whereas the methylation level of HIC1 did not differ significantly between normal and tumor samples, RassF1A was significantly hypermethylated in liver tumor samples.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 33, "end": 37}], "disease": [{"text": "liver tumor", "start": 146, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "This suggests that targeting GR function in the brain could provide new therapeutic strategies to treat cocaine addiction for which there is no available treatment.", "output": {"entities": {"gene": [{"text": "GR", "start": 29, "end": 31}], "disease": [{"text": "cocaine addiction", "start": 104, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GR", "start": 29, "end": 31}, "tail": {"text": "cocaine addiction", "start": 104, "end": 121}}]}}, "schema": []}
{"input": "A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 35, "end": 63}], "disease": [{"text": "familial male-limited precocious puberty", "start": 85, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 35, "end": 63}, "tail": {"text": "familial male-limited precocious puberty", "start": 85, "end": 125}}]}}, "schema": []}
{"input": "Here, we report that crosstalk between ROR1-HER3 and the Hippo-YAP pathway promotes breast cancer bone metastasis in a long noncoding RNA-dependent fashion.", "output": {"entities": {"gene": [{"text": "ROR1", "start": 39, "end": 43}], "disease": [{"text": "breast cancer", "start": 84, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROR1", "start": 39, "end": 43}, "tail": {"text": "breast cancer", "start": 84, "end": 97}}]}}, "schema": []}
{"input": "This review tries to survey the expression patterns of inducible transcription factors (ITFs) of the Jun (c-Jun, JunB, JunD) and Fos (c-Fos, FosB, Fra) families as well as of zinc finger proteins (Krox-20 and Krox-24) and their mRNAs following ischemia, epileptic seizures, hypoglycemia, axotomy and (programmed) neuronal death in the mammalian brain.", "output": {"entities": {"gene": [{"text": "JunD", "start": 119, "end": 123}], "disease": [{"text": "ischemia", "start": 244, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Accelerated post-MI remodeling leads to excessive ECM deposition and fibrosis, contributing to impaired contractile function, arrhythmias, and heart failure.", "output": {"entities": {"gene": [{"text": "ECM", "start": 50, "end": 53}], "disease": [{"text": "fibrosis", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These 3 CARD-BCL10-MALT1 (CBM) complexes activate nuclear factor κB in both the innate and adaptive arms of immunity.", "output": {"entities": {"gene": [{"text": "BCL10", "start": 13, "end": 18}], "disease": [{"text": "arms", "start": 100, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The findings were assessed on the basis of animal weight, morphology of femur, and histochemical localization of alkaline phosphatase (ALP) (an osteoblastic marker) and tartrate-resistant acid phosphatase (TRAP) (an osteoclastic marker) in upper end of femur.", "output": {"entities": {"gene": [{"text": "TRAP", "start": 206, "end": 210}], "disease": [{"text": "weight", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that MPO plays a crucial role in determining the susceptibility of leukemia cells to PTL-induced apoptosis.", "output": {"entities": {"gene": [{"text": "PTL", "start": 102, "end": 105}], "disease": [{"text": "leukemia", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Impaired capacity to lose visceral adipose tissue during weight reduction in obese postmenopausal women with the Trp64Arg beta3-adrenoceptor gene variant.", "output": {"entities": {"gene": [{"text": "beta3", "start": 122, "end": 127}], "disease": [{"text": "weight reduction", "start": 57, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Well characterized atheroprotective mechanisms include inhibition of thrombosis (increased tissue-type plasminogen activator and decreased plasminogen activator inhibitor-1), inhibition of endothelial cell apoptosis, limitation of permeability (uptake of low-density lipoprotein), prevention of white blood cell binding and transmigration (no expression of adhesion molecules such as intercellular adhesion molecule-1 [ICAM-1] and vascular cell adhesion molecule-1 [VCAM-1] and no release of monocyte chemotactic protein-1) and increased bioavailability of nitric oxide (because of increased expression of endothelial nitric oxide synthase and manganese superoxide dismutase).", "output": {"entities": {"gene": [{"text": "tissue-type plasminogen activator", "start": 91, "end": 124}], "disease": [{"text": "thrombosis", "start": 69, "end": 79}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tissue-type plasminogen activator", "start": 91, "end": 124}, "tail": {"text": "thrombosis", "start": 69, "end": 79}}]}}, "schema": []}
{"input": "The majority of these mice displayed severe hypertrophy (heart-to-body weight ratios & gt; 2-fold greater in the Rac1 mice) and died from overt heart failure between days 14 and 17.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 113, "end": 117}], "disease": [{"text": "heart failure", "start": 144, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rac1", "start": 113, "end": 117}, "tail": {"text": "heart failure", "start": 144, "end": 157}}]}}, "schema": []}
{"input": "We assessed the contribution of STX1A to migraine by analyzing three SNPs that cover the entire gene (rs6951030-rs941298-rs4363087), in a case-control association study in 210 migraine patients (102 MO, 86 MA, 22 hemiplegic migraine) and 210 sex-matched unrelated controls.", "output": {"entities": {"gene": [{"text": "STX1A", "start": 32, "end": 37}], "disease": [{"text": "hemiplegic migraine", "start": 213, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "In acute myeloid leukemia (AML), several signaling pathways such as the phosphatidylinositol-3-kinase/AKT and the mammalian target of rapamycin (PI3K/AKT/mTOR) pathway are deregulated and constitutively activated as a consequence of genetic and cytogenetic abnormalities.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 114, "end": 143}], "disease": [{"text": "cytogenetic abnormalities", "start": 245, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Thus the amino terminal domain of EWS (NTD-EWS), which is involved in chromosome translocation may regulate the specificity of RNA binding activity of EWS.", "output": {"entities": {"gene": [{"text": "EWS", "start": 34, "end": 37}], "disease": [{"text": "chromosome translocation", "start": 70, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have described two missense mutations in the human pejvakin gene that cause nonsyndromic recessive deafness (DFNB59) by affecting the function of auditory neurons.", "output": {"entities": {"gene": [{"text": "pejvakin", "start": 68, "end": 76}], "disease": [{"text": "deafness", "start": 116, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pejvakin", "start": 68, "end": 76}, "tail": {"text": "deafness", "start": 116, "end": 124}}]}}, "schema": []}
{"input": "Although Smad3 has been considered as a downstream mediator of transforming growth factor-β (TGF-β) signaling in diabetes complications, the role of Smad7 in diabetes remains largely unclear.", "output": {"entities": {"gene": [{"text": "Smad3", "start": 9, "end": 14}], "disease": [{"text": "diabetes complications", "start": 113, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "PINK1 mutations in sporadic early-onset Parkinson' s disease.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Myelin basic protein and 2', 3'-cyclic nucleotide 3'-phosphodiesterase were also significantly decreased in the mouse model of SZ.", "output": {"entities": {"gene": [{"text": "Myelin basic protein", "start": 0, "end": 20}], "disease": [{"text": "SZ", "start": 127, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Myelin basic protein", "start": 0, "end": 20}, "tail": {"text": "SZ", "start": 127, "end": 129}}]}}, "schema": []}
{"input": "The patients with myocardial infarction after administration of alteplase had statistically significantly higher coronary flow (TIMI-3), 72. 5% as compared to the patients who received streptokinase, 39. 2%.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 64, "end": 73}], "disease": [{"text": "myocardial infarction", "start": 18, "end": 39}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alteplase", "start": 64, "end": 73}, "tail": {"text": "myocardial infarction", "start": 18, "end": 39}}]}}, "schema": []}
{"input": "p53 regulates cyclophosphamide teratogenesis by controlling caspases 3, 8, 9 activation and NF-kappaB DNA binding.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 92, "end": 101}], "disease": [{"text": "teratogenesis", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Using peripheral blood mononuclear cells (PBMC) from a group of asymptomatic and symptomatic HIV-infected individuals, we compared the immunomodulatory effects of exogenous interleukin-2 (IL-2) with the effects elicited by the bacterial integral membrane protein, TraT.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 188, "end": 192}], "disease": [{"text": "asymptomatic", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Overall, these studies demonstrate that the Fstl1/OSM pathway may be a novel pathway to inhibit airway remodeling in severe human asthma.", "output": {"entities": {"gene": [{"text": "OSM", "start": 50, "end": 53}], "disease": [{"text": "asthma", "start": 130, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "CDK4, p27, and E2F-1 expression were examined in chondrosarcoma and osteochondroma of the jaws by immunohistochemical ABC method.", "output": {"entities": {"gene": [{"text": "p27", "start": 6, "end": 9}], "disease": [{"text": "chondrosarcoma", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Induction of POMC/alpha-melanocyte-stimulating hormone (alpha-MSH) activates the melanocortin 1 receptor (MC1R), resulting in skin pigmentation.", "output": {"entities": {"gene": [{"text": "POMC", "start": 13, "end": 17}], "disease": [{"text": "skin pigmentation", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Expression of p53-related protein p63 in the gastrointestinal tract and in esophageal metaplastic and neoplastic disorders.", "output": {"entities": {"gene": [{"text": "p53-related protein p63", "start": 14, "end": 37}], "disease": [{"text": "esophageal", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The results do not provide evidence that the DAP-1 gene is involved in vulnerability to schizophrenia.", "output": {"entities": {"gene": [{"text": "DAP-1", "start": 45, "end": 50}], "disease": [{"text": "schizophrenia", "start": 88, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAP-1", "start": 45, "end": 50}, "tail": {"text": "schizophrenia", "start": 88, "end": 101}}]}}, "schema": []}
{"input": "Therefore we have examined the interaction of glycation modified human serum albumin (AGE-HSA) and deferoxamine (DFO) mimicked hypoxia on the expression of hypoxia inducible factor 1α (HIF-1α), and the role of RAGE (receptor for AGE) signaling in up-regulation of HIF-1α.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 210, "end": 214}], "disease": [{"text": "hypoxia", "start": 127, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of recently identified polymorphisms in the DIO1 (D1a-C/T, D1b-A/G) and DIO2 (D2-ORFa-Gly3Asp, D2-Thr92Ala) genes with circulating thyroid parameters and early neuroimaging markers of AD.", "output": {"entities": {"gene": [{"text": "DIO1", "start": 76, "end": 80}], "disease": [{"text": "thyroid", "start": 163, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DIO1", "start": 76, "end": 80}, "tail": {"text": "thyroid", "start": 163, "end": 170}}]}}, "schema": []}
{"input": "Here we demonstrate that chronic mild stress-induced anhedonic behavior is associated with disturbed diurnal oscillation of the expression of Clock, Cry2, Per1, Per3, Id2, Rev-erbα, Ror-β and Ror-γ in the mouse basolateral amygdala.", "output": {"entities": {"gene": [{"text": "Cry2", "start": 149, "end": 153}], "disease": [{"text": "mild", "start": 33, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Myeloid differentiation factor 88 (MYD88) L265P somatic mutation is highly prevalent in Waldenström macroglobulinemia (WM) and supports malignant growth through nuclear factor κB (NF-κB).", "output": {"entities": {"gene": [{"text": "MYD88", "start": 35, "end": 40}], "disease": [{"text": "somatic mutation", "start": 48, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Changes in TTV genotype were frequently observed in multiply transfused patients with hemophilia but not in patients with chronic hepatitis or in healthy subjects without risk of transfusion transmission.", "output": {"entities": {"gene": [{"text": "TTV", "start": 11, "end": 14}], "disease": [{"text": "chronic hepatitis", "start": 122, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In addition, Nrf2 KO mice show biomarkers of heart failure, such as elevated levels of & #946;-MHC, ANF, and BNP mRNA in the myocardium.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 13, "end": 17}], "disease": [{"text": "heart failure", "start": 45, "end": 58}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nrf2", "start": 13, "end": 17}, "tail": {"text": "heart failure", "start": 45, "end": 58}}]}}, "schema": []}
{"input": "RyR2: FKBP12. 6 interaction remained intact after caffeine or 4-CMC activation, but was dramatically disrupted by isoproterenol or forskolin, an activator of adenylate cyclase.", "output": {"entities": {"gene": [{"text": "FKBP12. 6", "start": 6, "end": 15}], "disease": [{"text": "caffeine", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Mutations affecting Q209 in GNA11 were present in 7% of blue nevi, 32% of primary uveal melanomas, and 57% of uveal melanoma metastases.", "output": {"entities": {"gene": [{"text": "GNA11", "start": 28, "end": 33}], "disease": [{"text": "uveal melanoma", "start": 82, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNA11", "start": 28, "end": 33}, "tail": {"text": "uveal melanoma", "start": 82, "end": 96}}]}}, "schema": []}
{"input": "CALR-mutated patients were preferentially male and showed higher platelet count and lower hemoglobin and leukocyte count compared with JAK2-and MPL-mutated patients.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 135, "end": 139}], "disease": [{"text": "hemoglobin", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the coexistence of both homozygous or compound heterozygous SLC4A1 mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis.", "output": {"entities": {"gene": [{"text": "SLC4A1", "start": 76, "end": 82}], "disease": [{"text": "acidosis", "start": 214, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "The G allele was associated with increased fasting insulin (p (replication) = 0. 02, p (all) = 0. 0008) and HOMA-insulin resistance (p (replication) = 0. 02, p (all) = 0. 001) as well as a lower fasting proinsulin/insulin ratio (p (all) = 0. 008) and lower fasting glucagon (p = 0. 04) and gastric inhibitory peptide (GIP) (p = 0. 05) concentrations.", "output": {"entities": {"gene": [{"text": "GIP", "start": 318, "end": 321}], "disease": [{"text": "insulin resistance", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 75, "end": 79}], "disease": [{"text": "Marfan syndrome", "start": 106, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 75, "end": 79}, "tail": {"text": "Marfan syndrome", "start": 106, "end": 121}}]}}, "schema": []}
{"input": "The increase in resistance to APC was not explained by changes in protein S, protein C, or prothrombin and may contribute to the increased incidence of venous thrombosis in users of hormone replacement therapy.", "output": {"entities": {"gene": [{"text": "APC", "start": 30, "end": 33}], "disease": [{"text": "venous thrombosis", "start": 152, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APC", "start": 30, "end": 33}, "tail": {"text": "venous thrombosis", "start": 152, "end": 169}}]}}, "schema": []}
{"input": "Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 43, "end": 71}], "disease": [{"text": "familial male-limited precocious puberty", "start": 82, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 43, "end": 71}, "tail": {"text": "familial male-limited precocious puberty", "start": 82, "end": 122}}]}}, "schema": []}
{"input": "None of the individual SP-B genotypes or genotype combinations were associated with reduced forced expiratory volume in 1 s (FEV₁)% predicted, forced vital capacity (FVC)% pred and FEV₁/FVC overall or among smokers (p = 0. 25-0. 99).", "output": {"entities": {"gene": [{"text": "SP-B", "start": 23, "end": 27}], "disease": [{"text": "vital capacity", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "A panel of pancreas development genes, including GCK, Kir6. 2, PTF1A, PDX-1, HNF-1A, NgN3, SOX17, SOX7, SOX9, INS, HNF1-B and SUR1 plus the GATA4 gene, were screened for characterization of pancreatic agenesis and cardiac defect.", "output": {"entities": {"gene": [{"text": "Kir6. 2", "start": 54, "end": 61}], "disease": [{"text": "cardiac defect", "start": 214, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "To investigate the expression of MUC16 protein in tears and conjunctival cell membranes and MUC16 mRNA in conjunctival cells of Sjogren' s syndrome (SS), keratoconjunctivitus sicca (KCS) and non-dry eyed (NDE) subjects.", "output": {"entities": {"gene": [{"text": "NDE", "start": 205, "end": 208}], "disease": [{"text": "dry", "start": 195, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "DAP-kinase hypermethylation in AML was associated with myelodysplastic changes in the bone marrow at the time of the initial diagnosis (P =. 002) and with the presence of cytogenetic abnormalities (P =. 02).", "output": {"entities": {"gene": [{"text": "DAP", "start": 0, "end": 3}], "disease": [{"text": "cytogenetic abnormalities", "start": 171, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "APE1/Ref-1 is up-regulated in HCC and this over-expression correlates with cancer aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 30, "end": 33}], "disease": [{"text": "aggressiveness", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that Achn enhances human breast tumor growth and vascularization and that this activity is dependent on nuclear localization.", "output": {"entities": {"gene": [{"text": "Achn", "start": 24, "end": 28}], "disease": [{"text": "vascularization", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "These five groups may be classified as: (a) energy metabolism disorders such as respiratory chain disorders, pyruvate dehydrogenase deficiency, GLUT1 deficiency, fatty-acid β-oxidation defects, and disorders involving key cofactors such as electron transfer flavoprotein, thiamine, biotin, riboflavin, vitamin E and coenzyme Q10; (b) intoxication syndromes such as porphyrias, urea-cycle defects, homocystinurias, organic acidurias and amino acidopathies; (c) lipid-storage disorders such as lysosomal storage disorders (Krabbe disease, metachromatic leukodystrophy, Niemann-Pick disease type C, Fabry disease and Gaucher' s disease), peroxisomal disorders (adrenomyeloneuropathy, Refsum disease, disorders of pristanic acid metabolism, peroxisome biogenesis disorders), Tangier disease and cerebrotendinous xanthomatosis; (d) metal-storage diseases such as iron, copper and manganese metabolic disorders; and (e) neurotransmitter metabolism defects, including defects of serotonin, dopamine and glycine metabolism.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 144, "end": 149}], "disease": [{"text": "peroxisomal disorders", "start": 635, "end": 656}]}, "relations": {}}, "schema": []}
{"input": "To evaluate main effects and gene-gene interactions of haplotype tagging single nucleotide polymorphisms of genes involved in regulatory T-cell function-IL6, IL6R, IL10, heme-oxygenase 1 (HMOX1), IL2, Toll-like receptor 2 (TLR2), TGFB1, TGF-beta receptor (TGFBR)-1, TGFBR2, IL2RA, and forkhead box protein 3 (FOXP3)-in relation to atopy and asthma.", "output": {"entities": {"gene": [{"text": "IL6R", "start": 158, "end": 162}], "disease": [{"text": "atopy", "start": 331, "end": 336}]}, "relations": {}}, "schema": []}
{"input": "mRNA expression profile of multidrug-resistant genes in acute lymphoblastic leukemia of children, a prognostic value for ABCA3 and ABCA2.", "output": {"entities": {"gene": [{"text": "ABCA2", "start": 131, "end": 136}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 56, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To address this question, we generated skeletal muscle-specific PGC-1alpha knockout mice (MKOs), which developed significantly impaired glucose tolerance but showed normal peripheral insulin sensitivity.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 64, "end": 74}], "disease": [{"text": "insulin sensitivity", "start": 183, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Thus, aberrant expression of LBX1 may lead to the activation of a developmentally regulated EMT pathway in human breast cancer.", "output": {"entities": {"gene": [{"text": "LBX1", "start": 29, "end": 33}], "disease": [{"text": "breast cancer", "start": 113, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LBX1", "start": 29, "end": 33}, "tail": {"text": "breast cancer", "start": 113, "end": 126}}]}}, "schema": []}
{"input": "From studies of genetic-knockout animals, brain-derived neurotrophic factor (BDNF), a member of the neurotrophin growth-factor family, has been implicated in both alcohol preference and aggressive behaviour.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 77, "end": 81}], "disease": [{"text": "aggressive behaviour", "start": 186, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "XAF1 expression had the tendency to decrease from non-neoplastic mucosa to advanced adenocarcinomas.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 0, "end": 4}], "disease": [{"text": "non-neoplastic", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Further studies should address the possible involvement of the ANP/NPRC system in the pathophysiology of diabetic retinopathy.", "output": {"entities": {"gene": [{"text": "ANP", "start": 63, "end": 66}], "disease": [{"text": "diabetic retinopathy", "start": 105, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "However, pulmonary artery MMP-13 and TIMP-1 expressions decreased significantly in rats of shunt + PPG group (P < 0. 01).", "output": {"entities": {"gene": [{"text": "PPG", "start": 99, "end": 102}], "disease": [{"text": "shunt", "start": 91, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In using a co-culture system and MTT assay, reduced viability of endometrial cancer cells was observed in the presence of HB1. F3. CD and HB1. F3. CD. IFN-β cells with prodrug 5-FC.", "output": {"entities": {"gene": [{"text": "HB1", "start": 122, "end": 125}], "disease": [{"text": "endometrial cancer", "start": 65, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Here we report the purification and characterization of one of these down-regulatory factors, the cytokine, oncostatin M (OSM), which transmits its signal via the gp130 cell surface receptor, resulting in the selective down-modulation of the melanocyte lineage antigens: Melan-A/MART-1, gp100, tyrosinase, tyrosinase-related proteins 1 and 2, and the M isoform of microphthalmia transcription factor.", "output": {"entities": {"gene": [{"text": "OSM", "start": 122, "end": 125}], "disease": [{"text": "microphthalmia", "start": 364, "end": 378}]}, "relations": {}}, "schema": []}
{"input": "Thus, the associations of both passive and active smoking with breast cancer appear stronger in fast than in slow NAT2 genotypes.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 114, "end": 118}], "disease": [{"text": "smoking", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Dependence of metastatic cancer cell invasion on MLCK-catalyzed phosphorylation of myosin regulatory light chain.", "output": {"entities": {"gene": [{"text": "MLCK", "start": 49, "end": 53}], "disease": [{"text": "metastatic cancer", "start": 14, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLCK", "start": 49, "end": 53}, "tail": {"text": "metastatic cancer", "start": 14, "end": 31}}]}}, "schema": []}
{"input": "In this study, expression of Pak1, p-Pak2 Ser20, Pak4, pPak4 Ser474 in 21 normal endometrium, 16 hyperplastic endometrium without atypia, 17 atypical complex hyperplasia and 67 endometrial cancers was assessed by immunohistochemistry and correlated with clinicopathological parameters.", "output": {"entities": {"gene": [{"text": "Pak4", "start": 49, "end": 53}], "disease": [{"text": "hyperplasia", "start": 158, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality.", "output": {"entities": {"gene": [{"text": "HPP", "start": 105, "end": 108}], "disease": [{"text": "bone disease", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Conversely, knockdown of ETV1 resulted in decreased aggressiveness of the invasive gastric cancer cells.", "output": {"entities": {"gene": [{"text": "ETV1", "start": 25, "end": 29}], "disease": [{"text": "aggressiveness", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that targeting 5-HT (1B) Rs may lead to a novel treatment for cocaine dependence and that the therapeutic efficacy of these treatments may vary depending on the stage of the addiction cycle.", "output": {"entities": {"gene": [{"text": "5-HT (1B", "start": 38, "end": 46}], "disease": [{"text": "cocaine dependence", "start": 85, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (1B", "start": 38, "end": 46}, "tail": {"text": "cocaine dependence", "start": 85, "end": 103}}]}}, "schema": []}
{"input": "In this study, we investigated the prognostic relevance of ALK positivity by IHC and ALK mutation status by PCR sequencing in 71 NBL, 12 ganglioneuroblastoma (GNBL), and 20 ganglioneuroma samples in a multivariate model.", "output": {"entities": {"gene": [{"text": "NBL", "start": 129, "end": 132}], "disease": [{"text": "ganglioneuroblastoma", "start": 137, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.", "output": {"entities": {"gene": [{"text": "SMC1L1", "start": 45, "end": 51}], "disease": [{"text": "X-linked Cornelia de Lange syndrome", "start": 0, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMC1L1", "start": 45, "end": 51}, "tail": {"text": "X-linked Cornelia de Lange syndrome", "start": 0, "end": 35}}]}}, "schema": []}
{"input": "Here we report that constitutive mammalian target of rapamycin complex 1 (mTORC1) activity renders hypoxic cells dependent on exogenous desaturated lipids, as levels of de novo synthesized unsaturated fatty acids are reduced under low O2.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 74, "end": 80}], "disease": [{"text": "hypoxic", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "PC-3, LNCaP, and DU145 prostate cancer cells were stably transfected with DN FGFR constructs, and LNCaP and DU145 cells were infected with a recombinant adenovirus expressing DN FGFR-1.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 0, "end": 4}], "disease": [{"text": "adenovirus", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Our data show that the presence of SNPs in IL12B, TNFA, and IL1B was significantly associated with asthma, atopy, and severity of asthma. We also highlight the importance of genetic context, haplotype, and gene-gene interaction analysis in genetic association studies.", "output": {"entities": {"gene": [{"text": "IL1B", "start": 60, "end": 64}], "disease": [{"text": "atopy", "start": 107, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Clone 1A12 had four amino acid substitutions in CDR-L3, and showed a 10-fold increase in affinity compared to the parental clone and increased potency in an in vitro anti-proliferative activity assay with HER2-overepxressing gastric cancer cells.", "output": {"entities": {"gene": [{"text": "CDR", "start": 48, "end": 51}], "disease": [{"text": "gastric cancer", "start": 225, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Recent case reports suggest a link between the pentose phosphate pathway (PPP) enzyme transaldolase (TAL; encoded by TALDO1) and liver failure in children.", "output": {"entities": {"gene": [{"text": "TAL", "start": 101, "end": 104}], "disease": [{"text": "liver failure", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In the hippocampus of GFAP-IL6 mice that survived low dose kainic acid, there was no change in the extent of either neurodegeneration or astrocytosis.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 22, "end": 26}], "disease": [{"text": "neurodegeneration", "start": 116, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Since the ERK1/2 pathway is implicated in mediating hypertrophic signaling, we studied the changes in Mfn2 in cardiac hypertrophy using in vitro and in vivo models.", "output": {"entities": {"gene": [{"text": "Mfn2", "start": 102, "end": 106}], "disease": [{"text": "cardiac hypertrophy", "start": 110, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mfn2", "start": 102, "end": 106}, "tail": {"text": "cardiac hypertrophy", "start": 110, "end": 129}}]}}, "schema": []}
{"input": "The ELN 3'-untranslated region (-/A) polymorphism was found to significantly affect pulse wave velocity, an indicator of arterial stiffness.", "output": {"entities": {"gene": [{"text": "ELN", "start": 4, "end": 7}], "disease": [{"text": "arterial stiffness", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "miR-21 regulates chronic hypoxia-induced pulmonary vascular remodeling.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.", "output": {"entities": {"gene": [{"text": "TITF-1", "start": 8, "end": 14}], "disease": [{"text": "benign hereditary chorea", "start": 31, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TITF-1", "start": 8, "end": 14}, "tail": {"text": "benign hereditary chorea", "start": 31, "end": 55}}]}}, "schema": []}
{"input": "The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance.", "output": {"entities": {"gene": [{"text": "KRT81", "start": 144, "end": 149}], "disease": [{"text": "monilethrix", "start": 126, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT81", "start": 144, "end": 149}, "tail": {"text": "monilethrix", "start": 126, "end": 137}}]}}, "schema": []}
{"input": "The Wnt-pathway dominates the sporadic carcinogenesis whereas p53 plays a pivotal role in the colitis-associated counterpart.", "output": {"entities": {"gene": [{"text": "p53", "start": 62, "end": 65}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Claudin 16 (CLDN16) is a tight junction protein and plays important roles in the maintenance of cell polarity, cellular arrangement, adhesion, paracellular transport, and ionic permeability of various epithelia.", "output": {"entities": {"gene": [{"text": "CLDN16", "start": 12, "end": 18}], "disease": [{"text": "adhesion", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that hCE1 is not only a more potent and specific marker in distinguishing cancer from liver diseases, in particular cirrhosis, but the combination of hCE1 and AFP shows also synergistic potential for greater sensitivity and specificity in early diagnosis.", "output": {"entities": {"gene": [{"text": "hCE1", "start": 28, "end": 32}], "disease": [{"text": "cirrhosis", "start": 139, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Cardiovascular event rates in patients with ST-elevation myocardial infarction were lower with early increases in mobilization of Oct4 (high) Nanog (high) stem cells into the peripheral circulation during a 4-year follow-up.", "output": {"entities": {"gene": [{"text": "Oct4", "start": 130, "end": 134}], "disease": [{"text": "myocardial infarction", "start": 57, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We have identified ten mutations in the myophosphorylase gene in patients with McArdle' s disease.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 40, "end": 56}], "disease": [{"text": "McArdle' s disease", "start": 79, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 40, "end": 56}, "tail": {"text": "McArdle' s disease", "start": 79, "end": 97}}]}}, "schema": []}
{"input": "Induction of endothelial nitric oxide synthase expression by IL-17 in human vascular endothelial cells: implications for vascular remodeling in transplant vasculopathy.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 13, "end": 46}], "disease": [{"text": "vascular remodeling", "start": 121, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Mutations ending ABCB11 transcription appear linked, through hepatocellular necrosis and fibrosis, to worse outcome.", "output": {"entities": {"gene": [{"text": "ABCB11", "start": 17, "end": 23}], "disease": [{"text": "fibrosis", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the keratin 4 gene causing white sponge naevus.", "output": {"entities": {"gene": [{"text": "keratin 4", "start": 24, "end": 33}], "disease": [{"text": "white sponge naevus", "start": 47, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 4", "start": 24, "end": 33}, "tail": {"text": "white sponge naevus", "start": 47, "end": 66}}]}}, "schema": []}
{"input": "In addition, the ERK1/2-binding IQGAP1 WW domain peptide disrupted IQGAP1-ERK1/2 interactions, inhibited RAS-and RAF-driven tumorigenesis, bypassed acquired resistance to the BRAF inhibitor vemurafenib (PLX-4032) and acted as a systemically deliverable therapeutic to significantly increase the lifespan of tumor-bearing mice.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 17, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "During hypoxic conditions, treatment of HT29 cells with the AR inhibitor fidarestat significantly decreased the expression of vascular endothelial growth factor, a down target of HIF-1α, at both mRNA and protein levels and also prevented the activation of PI3K/AKT, GSK3β, Snail, and lysyl oxidase.", "output": {"entities": {"gene": [{"text": "lysyl oxidase", "start": 284, "end": 297}], "disease": [{"text": "hypoxic", "start": 7, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "It has recently been shown that among other reasons, the systemic inflammation in the brain death cadaveric organ donor contributes to subsequent ARF in the recipient.", "output": {"entities": {"gene": [{"text": "ARF", "start": 146, "end": 149}], "disease": [{"text": "inflammation", "start": 66, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to analyze + 874A/T polymorphism in the IFN-γ gene and its associations with the presence of periodontopathic bacteria and susceptibility to generalized chronic periodontitis (CP).", "output": {"entities": {"gene": [{"text": "IFN", "start": 66, "end": 69}], "disease": [{"text": "generalized chronic periodontitis", "start": 167, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene.", "output": {"entities": {"gene": [{"text": "NOTCH3", "start": 77, "end": 83}], "disease": [{"text": "IM", "start": 60, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOTCH3", "start": 77, "end": 83}, "tail": {"text": "IM", "start": 60, "end": 62}}]}}, "schema": []}
{"input": "The clinical syndrome associated with ORAI1 deficiency is characterized by immunodeficiency with a defect in the function but not in the development of lymphocytes, congenital myopathy, and anhydrotic ectodermal dysplasia with a defect in dental enamel calcification.", "output": {"entities": {"gene": [{"text": "ORAI1", "start": 38, "end": 43}], "disease": [{"text": "congenital myopathy", "start": 165, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p. Leu (381) Phe in three brothers who, along with their father, developed progressive dementia and motor deficits in their early 30 s. All affected relatives had unusually rapid disease progression (on average 3. 6 years from disease onset to death).", "output": {"entities": {"gene": [{"text": "Presenilin 1", "start": 91, "end": 103}], "disease": [{"text": "motor deficits", "start": 213, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The NKX3. 1 gene maps to chromosome band 8p21, a region frequently reported to undergo a loss of heterozygosity associated with tissue dedifferentiation and loss of androgen responsiveness during the progression of prostate cancer.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 4, "end": 11}], "disease": [{"text": "dedifferentiation", "start": 135, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Here we show that Mstn-null mice have a significant reduction in fat accumulation with increasing age compared with wild-type littermates, even in the setting of normal food intake (relative to body weight), normal body temperature, and a slightly decreased resting metabolic rate.", "output": {"entities": {"gene": [{"text": "Mstn", "start": 18, "end": 22}], "disease": [{"text": "body weight", "start": 194, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Atorvastatin lowered endothelial ENA-78 production during inflammation typical of ACS.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 33, "end": 39}], "disease": [{"text": "inflammation", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We studied loss of heterozygosity (LOH) on the long arm of human chromosome 18 in prostate cancer to determine the location of a putative tumor suppressor gene (TSG) and to correlate these losses with the pathological grade and stage of the cancer.", "output": {"entities": {"gene": [{"text": "TSG", "start": 161, "end": 164}], "disease": [{"text": "prostate cancer", "start": 82, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "To assess the efficacy of multiple treatment of phosphatidylinositol-3-kinase (PI3K) inhibitor on autochthonous tumours in phosphatase and tensin homologue (Pten)-deficient genetically engineered mouse cancer models using a longitudinal magnetic resonance imaging (MRI) protocol.", "output": {"entities": {"gene": [{"text": "tensin", "start": 139, "end": 145}], "disease": [{"text": "cancer", "start": 202, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the role of HLA (human leucocyte antigen) class I (A, B, C) and class II (DR) alleles and familial insulin-dependent diabetes mellitus as possible risk markers for early retinopathy in a population of 103 Finnish adolescents with type I diabetes mellitus for 3. 6-16. 2 years.", "output": {"entities": {"gene": [{"text": "6-16", "start": 300, "end": 304}], "disease": [{"text": "retinopathy", "start": 208, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated previously that the expression of the c-jun family was dysregulated in metastatic melanoma cells compared with normal human melanocytes (D. T. Yamanishi et al., J.", "output": {"entities": {"gene": [{"text": "c-jun", "start": 54, "end": 59}], "disease": [{"text": "metastatic melanoma", "start": 87, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We report here on a 73-year-old male RTR who presented with Alternaria infectoria phaeohyphomycosis of 1 year' s duration.", "output": {"entities": {"gene": [{"text": "RTR", "start": 37, "end": 40}], "disease": [{"text": "phaeohyphomycosis", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX).", "output": {"entities": {"gene": [{"text": "BSCL2", "start": 226, "end": 231}], "disease": [{"text": "hyperlipidaemia", "start": 38, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In heart failure, the Arg16Gly and Gln27Glu polymorphisms of the beta2-adrenoreceptor (beta2-AR) gene are associated with exercise-capacity, clinical outcomes and response to beta-AR blocker therapy.", "output": {"entities": {"gene": [{"text": "beta2", "start": 65, "end": 70}], "disease": [{"text": "heart failure", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "However, ADRB3 polymorphism might be a possible determinant of insulin resistance.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 9, "end": 14}], "disease": [{"text": "insulin resistance", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our experiments therefore demonstrate that HSF1 plays a functional role in cancer cells under nonstress conditions and influences cell cycle behavior and progression through mitosis and promotes the development of the aneuploid state.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 43, "end": 47}], "disease": [{"text": "aneuploid", "start": 218, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrated: (1) that positive MIB 1 immunostaining increased progressively from squamous metaplasia to CIN and microinvasive carcinoma, suggesting that neoplastic transformation is associated with a dysfunctional proliferation of cervical epithelium; (2) that there was a significant correlation between the MIB 1 index and CIN degree but not with respect to HPV DNA presence, and (3) that MIB 1 immunostaining might be useful for a clinical evaluation of mild and moderate dysplastic lesions.", "output": {"entities": {"gene": [{"text": "MIB", "start": 41, "end": 44}], "disease": [{"text": "mild", "start": 467, "end": 471}]}, "relations": {}}, "schema": []}
{"input": "Moreover, stable silencing of NTSR1 suppressed BON cell growth, adhesion, migration and invasion.", "output": {"entities": {"gene": [{"text": "NTSR1", "start": 30, "end": 35}], "disease": [{"text": "adhesion", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Global binding maps for PU. 1, CEBPA and the histone mark H3K27Ac with and without PU. 1 induction showed that mutant PU. 1 retains DNA-binding ability, but the induction of wild-type protein dramatically increases both the number and the height of PU. 1-binding peaks.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 249, "end": 254}], "disease": [{"text": "height", "start": 239, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "The study revealed that the positive PRL-3 expression and abnormal E-cadherin expression were associated with mucinous gastric carcinoma and lymph node involvement.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 67, "end": 77}], "disease": [{"text": "mucinous gastric carcinoma", "start": 110, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "To verify the association of transforming growth factor-beta1 (TGF-beta1) (C-509T and T869C), CD14 (C-159T), IL-4 (C-590T), IL-4R (ILe50Val) and ADAM33 (S_2) gene polymorphisms with asthma severity in a sample of patients with mild, moderate and severe persistent atopic asthma.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 109, "end": 113}], "disease": [{"text": "mild", "start": 227, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate a role for Hic1 in the development of structures affected in the Miller-Dieker syndrome, and provide functional evidence to strengthen its candidacy as a gene involved in this disorder.", "output": {"entities": {"gene": [{"text": "Hic1", "start": 38, "end": 42}], "disease": [{"text": "Miller-Dieker syndrome", "start": 92, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Hic1", "start": 38, "end": 42}, "tail": {"text": "Miller-Dieker syndrome", "start": 92, "end": 114}}]}}, "schema": []}
{"input": "In hyperprolactinaemic amenorrhoea pituitary hyper-responsiveness may not be due to PRL effects on ovarian steroidogenesis.", "output": {"entities": {"gene": [{"text": "PRL", "start": 84, "end": 87}], "disease": [{"text": "amenorrhoea", "start": 23, "end": 34}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRL", "start": 84, "end": 87}, "tail": {"text": "amenorrhoea", "start": 23, "end": 34}}]}}, "schema": []}
{"input": "We describe here an 18-year-old individual with mild sun sensitivity, no neurological abnormalities and no tumors, who carries a p. R683Q mutation in one allele, and the novel p. R616Q mutation in the other allele of the XPD gene.", "output": {"entities": {"gene": [{"text": "XPD gene", "start": 221, "end": 229}], "disease": [{"text": "abnormalities", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that inactivation of cell cycle checkpoints responsive to mitotic spindle disruption, by mutant forms of p53 or Bub1, relieves growth arrest and initiates neoplastic transformation in primary cells homozygous for truncated Brca2.", "output": {"entities": {"gene": [{"text": "Brca2", "start": 239, "end": 244}], "disease": [{"text": "neoplastic transformation", "start": 171, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "MIF may contribute to B-cell hyperactivity indicated by hypergammaglobulinemia.", "output": {"entities": {"gene": [{"text": "MIF", "start": 0, "end": 3}], "disease": [{"text": "hypergammaglobulinemia", "start": 56, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Using HDL from children and adults with chronic kidney dysfunction (HDL (CKD)), a population with high cardiovascular risk, we have demonstrated that HDL (CKD) in contrast to HDL (Healthy) promoted endothelial superoxide production, substantially reduced nitric oxide (NO) bioavailability, and subsequently increased arterial blood pressure (ABP).", "output": {"entities": {"gene": [{"text": "ABP", "start": 342, "end": 345}], "disease": [{"text": "kidney dysfunction", "start": 48, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The binding specificity of the VLDLR and LDLR for apoC1-enriched lipoprotein particles was examined in vivo through adenovirus-mediated gene transfer of the VLDLR and the LDLR [giving rise to adenovirus-containing (Ad)-VLDLR and Ad-LDLR respectively] in APOC1 transgenic mice, LDLR-deficient (LDLR-/-) mice and wild-type mice.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 32, "end": 36}], "disease": [{"text": "adenovirus", "start": 116, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We report the unusual phenotypic expression in 2 female carriers of a family with X-linked recessive bulbospinal neuronopathy (X-BSN).", "output": {"entities": {"gene": [{"text": "BSN", "start": 129, "end": 132}], "disease": [{"text": "bulbospinal neuronopathy", "start": 101, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "β3-Adrenergic receptor (ADRB3) Trp64Arg polymorphism is associated with atherogenic risk factors that include weight gain, insulin resistance, and diabetes.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 24, "end": 29}], "disease": [{"text": "insulin resistance", "start": 123, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.", "output": {"entities": {"gene": [{"text": "AP-5", "start": 8, "end": 12}], "disease": [{"text": "lysosomal storage disease", "start": 87, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In PCM, staining with PAL-M2 was observed only in tumors with a Breslow thickness of 0. 76 mm or higher.", "output": {"entities": {"gene": [{"text": "PAL", "start": 22, "end": 25}], "disease": [{"text": "tumors", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP164 rs573455, and GRP78rs430397 in addition to the known SNPs MDM2 rs2279744 and ALDH2 rs671.", "output": {"entities": {"gene": [{"text": "CEP164", "start": 95, "end": 101}], "disease": [{"text": "hepatocarcinogenesis", "start": 30, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Low density lipoprotein receptor transcripts correlates with liver hepatitis C virus RNA in patients with alcohol consumption.", "output": {"entities": {"gene": [{"text": "Low density lipoprotein receptor", "start": 0, "end": 32}], "disease": [{"text": "alcohol consumption", "start": 106, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe a case in which a BCL6 rearrangement and additional complex cytogenetic abnormalities occurred in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia.", "output": {"entities": {"gene": [{"text": "BCL6", "start": 36, "end": 40}], "disease": [{"text": "telangiectasia", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Suppression of NF-kappaB activity in PC-3 cells by a mutant IkappaBalpha super-repressor adenoviral vector decreased the CXCR4 mRNA expression and inhibited adhesion and TEM.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 15, "end": 24}], "disease": [{"text": "adhesion", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Skeletal myxoid chondrosarcoma (SMC) is considered to be either a typical chondrosarcoma with prominent myxoid alterations or an altogether unique malignant cartilage tumor.", "output": {"entities": {"gene": [{"text": "SMC", "start": 32, "end": 35}], "disease": [{"text": "chondrosarcoma", "start": 16, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Genomewide linkage scan for diabetic renal failure and albuminuria: the FIND study.", "output": {"entities": {"gene": [{"text": "FIND", "start": 72, "end": 76}], "disease": [{"text": "albuminuria", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined expressions of netrin-1, DCC, and neogenin in the brain after 90 min of transient middle cerebral artery occlusion (tMCAO).", "output": {"entities": {"gene": [{"text": "DCC", "start": 52, "end": 55}], "disease": [{"text": "middle cerebral artery occlusion", "start": 109, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Intermediate ML patients who share the c. 10A & gt; C/p. K4Q mutation in GNPTAB demonstrate a distinct, consistent phenotype similar to ML II in physical and radiographic features and to ML III & #945;/& #946; in psychomotor development and life expectancy.", "output": {"entities": {"gene": [{"text": "GNPTAB", "start": 73, "end": 79}], "disease": [{"text": "ML III", "start": 187, "end": 193}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTAB", "start": 73, "end": 79}, "tail": {"text": "ML III", "start": 187, "end": 193}}]}}, "schema": []}
{"input": "These studies suggest that HIV-1 clade B and C Tat proteins may play a differential role in the neuropathogenesis of HIV-associated dementia (HAD) or HIV-associated neurocognitive disorder (HAND).", "output": {"entities": {"gene": [{"text": "HAD", "start": 142, "end": 145}], "disease": [{"text": "neurocognitive disorder", "start": 165, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "However, patients with a recent history of acute diverticulitis have a significant attenuation in SERT expression and function, likely secondary to previous inflammation.", "output": {"entities": {"gene": [{"text": "SERT", "start": 98, "end": 102}], "disease": [{"text": "inflammation", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The current findings are consistent with a strong tonic influence of leptin receptor signalling on hypothalamic GALP expression under normal conditions, and possible abnormalities in GALP neuronal signalling and their putative targets, thyrotropin-releasing hormone and gonadotropin hormone-releasing hormone neurons, under pathophysiological conditions such as diabetes and obesity.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 69, "end": 84}], "disease": [{"text": "abnormalities", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Our results constitute the first evidence that the MYL9 gene is a direct target of RUNX1 and provide a mechanism for decreased platelet MYL9 expression, MLC phosphorylation, thrombocytopenia, and platelet dysfunction associated with RUNX1 mutations.", "output": {"entities": {"gene": [{"text": "MLC", "start": 153, "end": 156}], "disease": [{"text": "thrombocytopenia", "start": 174, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "SFRP1 promoter methylation was observed in 75%, 48. 2%, 21. 4%, 14. 3% and 0% in HCC cell lines, primary HCCs, cirrhotic livers, livers with chronic hepatitis, and normal control tissues, respectively.", "output": {"entities": {"gene": [{"text": "HCC", "start": 81, "end": 84}], "disease": [{"text": "chronic hepatitis", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The top upregulated genes in IBD are associated with diabetogenesis (REG1A, REG1B), bacterial signals (TLRs, NLRs), innate immunity (DEFA6, IDO1, EXOSC1), inflammation (CXCLs), and matrix degradation (MMPs).", "output": {"entities": {"gene": [{"text": "REG1B", "start": 76, "end": 81}], "disease": [{"text": "inflammation", "start": 155, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "A combination of sequence analysis, reporter gene assays, quantitative real-time PCR, electrophoretic gel mobility shift assays and immunoblot analysis further confirmed the four AP-2gamma target genes in carcinogenesis group: ErbB2, CDH2, HPSE and IGSF11.", "output": {"entities": {"gene": [{"text": "IGSF11", "start": 249, "end": 255}], "disease": [{"text": "carcinogenesis", "start": 205, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have linked polymorphisms in the DAOA gene with the occurrence of neuropsychiatric symptoms such as depression, apathy, aggression, delusions, hallucinations, and psychosis in AD.", "output": {"entities": {"gene": [{"text": "DAOA gene", "start": 50, "end": 59}], "disease": [{"text": "apathy", "start": 129, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.", "output": {"entities": {"gene": [{"text": "RSPH1", "start": 30, "end": 35}], "disease": [{"text": "primary ciliary dyskinesia", "start": 42, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RSPH1", "start": 30, "end": 35}, "tail": {"text": "primary ciliary dyskinesia", "start": 42, "end": 68}}]}}, "schema": []}
{"input": "Expression of the adhesion molecules ICAM-1, VCAM-1, and E-selectin and their ligands VLA-4 and LFA-1 in chronic venous leg ulcers.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 96, "end": 101}], "disease": [{"text": "adhesion", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "To report the clinical features, management, and outcome of a patient who developed bilateral ectasia after photorefractive keratectomy (PRK).", "output": {"entities": {"gene": [{"text": "PRK", "start": 137, "end": 140}], "disease": [{"text": "ectasia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that BCL2 or BCL3 are recurrent translocation partners of the IGH locus in cHL; however, most of the translocation partners of IGH translocations in cHL remain to be identified.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 33, "end": 37}], "disease": [{"text": "translocation", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The genotypic and allelic frequencies of LIPC and PCSK9 were different between normal weight and overweight/obese subjects, the genotypic frequency of LIPG and allelic frequency of MYLIP were also different between normal weight and overweight/obese subjects (P < 0. 05-0. 001).", "output": {"entities": {"gene": [{"text": "MYLIP", "start": 181, "end": 186}], "disease": [{"text": "overweight", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We found an allele-wise association of rs2072446 on NGFR with familial AD (fAD, p = 0. 047), and a genotype-wise association of rs2289656 on NTRK2 with sporadic AD (sAD, p = 0. 0036).", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 141, "end": 146}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, MK2 and MK3 together play crucial roles in the regulation of the renal stress response and in the development of glomerulonephritis, which can potentially be exploited to develop novel therapeutic approaches to treat glomerular disease.", "output": {"entities": {"gene": [{"text": "MK3", "start": 23, "end": 26}], "disease": [{"text": "glomerulonephritis", "start": 128, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "To determine if t (2; 5) is involved in cutaneous lymphoproliferative disorders, we studied 37 CD30 + cutaneous lymphoproliferations, 27 mycosis fungoides (MF), and 16 benign inflammatory disorders (BID).", "output": {"entities": {"gene": [{"text": "BID", "start": 199, "end": 202}], "disease": [{"text": "lymphoproliferative disorders", "start": 50, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Because mitochondrial dysfunction, inflammation, endoplasmic-reticulum stress and hypoxia all inactivate mTORC1, our results may suggest a unifying mechanism for the pathogenesis of insulin resistance in T2D, although the underlying causes might differ.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 105, "end": 111}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for drinking, which significantly differed between the groups as per univariate analysis, we found that hypermethylation of GSTP1 and CYP1A1 promoters was associated with ADLI (OR = 2. 645 and 2. 090, respectively).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 140, "end": 145}], "disease": [{"text": "drinking", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "NSCLC patients carrying C allele of CTR1 rs10981694 presented more sensitivity to ototoxicity after cisplatin treatment.", "output": {"entities": {"gene": [{"text": "CTR1", "start": 36, "end": 40}], "disease": [{"text": "ototoxicity", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Leptin receptor antagonist (leptin quadruple mutant) and dual endothelin A endothelin B (ETA/ETB) receptor blocker bosentan normalized such abnormalities.", "output": {"entities": {"gene": [{"text": "Leptin receptor", "start": 0, "end": 15}], "disease": [{"text": "abnormalities", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts.", "output": {"entities": {"gene": [{"text": "beta-galactosidase", "start": 39, "end": 57}], "disease": [{"text": "keratan sulfaturia", "start": 5, "end": 23}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-galactosidase", "start": 39, "end": 57}, "tail": {"text": "keratan sulfaturia", "start": 5, "end": 23}}]}}, "schema": []}
{"input": "A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 53, "end": 62}], "disease": [{"text": "epidermolytic hyperkeratosis", "start": 70, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 53, "end": 62}, "tail": {"text": "epidermolytic hyperkeratosis", "start": 70, "end": 98}}]}}, "schema": []}
{"input": "The aims of the present study were two-fold: 1) to determine the Wnt5a role in viability, apoptosis, migration, colony formation and adhesion of human serous epithelial ovarian cancer cell line SKOV-3, and 2) to assess the relationship of Wnt5a with E-and N-cadherin in high-and low-grade human serous ovarian cancer specimens.", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 256, "end": 266}], "disease": [{"text": "epithelial ovarian cancer", "start": 158, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe a study of Sry detection in the gonads of intersex patients including 5 male pseudohermaphrodite (MPH), 4 XX true hermaphrodite (TH) and each 1 mixed gonadal dysgenesis (MGD) and XX sex reversal, and in the clitoris of 3 female pseudohermaphrodite (FPH) by fluorescent in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 310, "end": 314}], "disease": [{"text": "true hermaphrodite", "start": 127, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that a Zfp191 homolog protein, ZNF396, is expressed in basal cell carcinoma (BCC) and possibly represses the expression of a Notch system effector molecule, Hes1 (hairy and enhancer of split-1), and prevents BCC cells from undergoing Notch-mediated squamous cell differentiation.", "output": {"entities": {"gene": [{"text": "ZNF396", "start": 47, "end": 53}], "disease": [{"text": "basal cell carcinoma", "start": 71, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We now show that TAZ plays a critical role in the migration, invasion, and tumorigenesis of breast cancer cells.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 17, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We observed that hypoxia treatment increased oxidative stress, exacerbated inflammation, and aggravated learning defects in aged APP/PS1 mice.", "output": {"entities": {"gene": [{"text": "APP", "start": 129, "end": 132}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The most effective, independent predictors of BRCA1 mutations were age at onset, HER2 status, and either ER or PR status, as compared with sporadic or non-BRCA1/BRCA2 cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 161, "end": 166}], "disease": [{"text": "sporadic", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Treatment of hypertrophic scars resulted in increased mean levels of IL-8, bFGF, and GMCSF mRNA; while mean TGF beta and fibronectin mRNAs decreased after treatment with both dressings.", "output": {"entities": {"gene": [{"text": "GMCSF", "start": 85, "end": 90}], "disease": [{"text": "hypertrophic scars", "start": 13, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 47, "end": 59}], "disease": [{"text": "infertility", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The ChREBP protein and mRNA expressions were then analysed in a series of breast cancers for correlative analysis with common and breast-specific hypoxia signatures, and survival.", "output": {"entities": {"gene": [{"text": "ChREBP", "start": 4, "end": 10}], "disease": [{"text": "hypoxia", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In this study, p16 (INK4A) immunohistochemical expression was evaluated in 56 OLP and 36 OLK (12 without inflammation [NI-OLK] and 24 with chronic inflammation [I-OLK]) and compared with 23 reactive nonspecific inflammations (INF) and 14 normal control samples.", "output": {"entities": {"gene": [{"text": "INK4A", "start": 20, "end": 25}], "disease": [{"text": "inflammation", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "TT virus (TTV) is a newly discovered non-enveloped, single stranded DNA virus of high genotypic variability, found frequently in patients with acute or chronic hepatitis of non A-G aetiology.", "output": {"entities": {"gene": [{"text": "TTV", "start": 10, "end": 13}], "disease": [{"text": "chronic hepatitis", "start": 152, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Frequencies of GST mu expression were as follows: controls (n = 449, 51. 2%), mild ulcerative colitis (n = 76, 47. 3%), moderate ulcerative colitis (n = 43, 46. 5%), and severe ulcerative colitis (characterized by colectomy) (n = 60, 36. 7%).", "output": {"entities": {"gene": [{"text": "GST", "start": 15, "end": 18}], "disease": [{"text": "mild", "start": 78, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 36, "end": 40}], "disease": [{"text": "Lynch syndrome", "start": 58, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH6", "start": 36, "end": 40}, "tail": {"text": "Lynch syndrome", "start": 58, "end": 72}}]}}, "schema": []}
{"input": "We have documented a selective effect of the ectopic expression of SMC3 on a set of genes and transcriptional signaling pathways that are relevant for tumorigenesis.", "output": {"entities": {"gene": [{"text": "SMC3", "start": 67, "end": 71}], "disease": [{"text": "tumorigenesis", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "AIMS: To replicate the association of genetic variants with estimated glomerular filtration rate (GFR) and albuminuria, which has been found in recent genome-wide studies in patients with Type 2 diabetes.", "output": {"entities": {"gene": [{"text": "GFR", "start": 98, "end": 101}], "disease": [{"text": "albuminuria", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a potential role of this protein in the molecular etiology of CMT2B2 and suggest a potential, more general role of MED25 in gene dosage sensitive peripheral neuropathy pathogenesis.", "output": {"entities": {"gene": [{"text": "MED25", "start": 137, "end": 142}], "disease": [{"text": "peripheral neuropathy", "start": 168, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Long-term Nuc therapy may also result in histological improvement or reversal of advanced fibrosis and reduction in disease progression including the development of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 165, "end": 168}], "disease": [{"text": "fibrosis", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The expression levels and subcellular localization of the CCNB2, ASPM, CDCA7, KIAA0101, and SLC27A2 proteins were measured using immunohistochemistry (IHC) on a panel of 80 primary invasive breast tumors.", "output": {"entities": {"gene": [{"text": "CCNB2", "start": 58, "end": 63}], "disease": [{"text": "breast tumors", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "We conclude that DAC-mediated restoration of sensitivity to bolus 5-FU is mediated at least in part by increased UMPK levels and clinical resistance to 5-FU due to decreased UMPK in colorectal cancer may be overcome by including methylation inhibitors such as DAC.", "output": {"entities": {"gene": [{"text": "DAC", "start": 17, "end": 20}], "disease": [{"text": "clinical resistance", "start": 129, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "A pharmacological inhibitor of p110 & #947; (encoded by PIK3CG) impaired cell proliferation in medulloblastoma cell lines and sensitized the cells to cisplatin treatment.", "output": {"entities": {"gene": [{"text": "PIK3CG", "start": 56, "end": 62}], "disease": [{"text": "medulloblastoma", "start": 95, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3CG", "start": 56, "end": 62}, "tail": {"text": "medulloblastoma", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "Collectively these data provide insight into the pathways engaged in TSLP-driven airway inflammation and demonstrate that simultaneous blockade of IL-4 and IL-13 can reverse established airway disease, suggesting that this may be an effective approach for the therapy of Th2-mediated inflammatory respiratory disease.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 147, "end": 151}], "disease": [{"text": "inflammation", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Involvement of tissue plasminogen activator in stress responsivity during acute cocaine withdrawal in mice.", "output": {"entities": {"gene": [{"text": "tissue plasminogen activator", "start": 15, "end": 43}], "disease": [{"text": "cocaine withdrawal", "start": 80, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tissue plasminogen activator", "start": 15, "end": 43}, "tail": {"text": "cocaine withdrawal", "start": 80, "end": 98}}]}}, "schema": []}
{"input": "We analyzed the expression of LOXL2, LOXL3, and LOXL4 in cancers involving the serosal cavities-breast carcinoma, ovarian carcinoma, and malignant mesothelioma using reverse-transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "LOXL4", "start": 48, "end": 53}], "disease": [{"text": "cavities", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Slit2 expression was significantly higher in TLE patients as compared with the controls.", "output": {"entities": {"gene": [{"text": "Slit2", "start": 0, "end": 5}], "disease": [{"text": "TLE", "start": 45, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Slit2", "start": 0, "end": 5}, "tail": {"text": "TLE", "start": 45, "end": 48}}]}}, "schema": []}
{"input": "In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 86, "end": 91}], "disease": [{"text": "PNDM", "start": 66, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC8", "start": 86, "end": 91}, "tail": {"text": "PNDM", "start": 66, "end": 70}}]}}, "schema": []}
{"input": "Melanoma risk factors include fair pigmentation, multiple nevi, low DNA repair capacity, and CDKN2A or CDK4 mutations.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 103, "end": 107}], "disease": [{"text": "multiple nevi", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Both germline and somatic loss-of-function CHEK2 mutations occur in human tumours, the former linked to the Li-Fraumeni syndrome, and the latter found in diverse types of sporadic malignancies.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 43, "end": 48}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "This permeability defect preceded the development of ileal inflammation, was present in the absence of commensal bacteria, and was accompanied by altered ileal mRNA expression of the tight junction proteins claudin-2 and occludin.", "output": {"entities": {"gene": [{"text": "occludin", "start": 221, "end": 229}], "disease": [{"text": "inflammation", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Indeed, sphingosine, which accumulates upon inhibition of SK1 activity, and sphingosine-like compounds promote activation of the inflammasome, which is linked with multiple sclerosis, to stimulate formation of the pro-inflammatory mediator, IL-1β.", "output": {"entities": {"gene": [{"text": "SK1", "start": 58, "end": 61}], "disease": [{"text": "multiple sclerosis", "start": 164, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "To assess whether systemic inflammation played a role in mediating cataractogenesis, we studied serum levels of eotaxin, IL-6, and IL-4.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 131, "end": 135}], "disease": [{"text": "inflammation", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "To compare the incidence and extent of coronary artery calcification (CAC) as measured by electron beam computed tomography (EBCT) in patients with systemic lupus erythematosus (SLE) and controls, and to identify variables associated with CAC in patients with SLE.", "output": {"entities": {"gene": [{"text": "CAC", "start": 70, "end": 73}], "disease": [{"text": "coronary artery calcification", "start": 39, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "High claudin-4 expression was also associated with worse breast cancer-specific survival (p = 0. 003), recurrence-free survival (p = 0. 025) and overall survival (p = 0. 034).", "output": {"entities": {"gene": [{"text": "claudin-4", "start": 5, "end": 14}], "disease": [{"text": "breast cancer", "start": 57, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "claudin-4", "start": 5, "end": 14}, "tail": {"text": "breast cancer", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "The induction of experimental autoimmune encephalitis, the animal model of multiple sclerosis (MS), occurs in mice lacking IL-12, but not in mice with targeted disruption of IL-23 or both IL-12 and IL-23.", "output": {"entities": {"gene": [{"text": "IL-23", "start": 174, "end": 179}], "disease": [{"text": "autoimmune encephalitis", "start": 30, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The average expression level of Zip2 was significantly higher and Zip6, Zip8 mRNA levels were significantly lower in short stature children than in health controls at 0 min (P < 0. 05, P < 0. 05).", "output": {"entities": {"gene": [{"text": "Zip6", "start": 66, "end": 70}], "disease": [{"text": "short stature", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors.", "output": {"entities": {"gene": [{"text": "TP53", "start": 7, "end": 11}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "However, it has yet to be elucidated whether LOX-1, along with Nrf2, participates in the pathology of preeclampsia.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 63, "end": 67}], "disease": [{"text": "preeclampsia", "start": 102, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The E3 ubiquitin ligase Wwp2 regulates craniofacial development through mono-ubiquitylation of Goosecoid.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 4, "end": 23}], "disease": [{"text": "mono", "start": 72, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we show that expression of the inflammasome related genes, NLRP3, caspase-1, IL-1 & #946; and the IL-1 & #946;/IL-1Ra ratio, was increased in PBMC from MS patients compared to healthy controls (HC).", "output": {"entities": {"gene": [{"text": "caspase-1", "start": 88, "end": 97}], "disease": [{"text": "MS", "start": 174, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase-1", "start": 88, "end": 97}, "tail": {"text": "MS", "start": 174, "end": 176}}]}}, "schema": []}
{"input": "ERCC5 is a component of the nucleotide excision repair machinery and biallelic mutations in the gene have previously been associated with xeroderma pigmentosum (group G), Cockayne syndrome and the more severe cerebrooculofacioskeletal syndrome.", "output": {"entities": {"gene": [{"text": "ERCC5", "start": 0, "end": 5}], "disease": [{"text": "cerebrooculofacioskeletal syndrome", "start": 209, "end": 243}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ERCC5", "start": 0, "end": 5}, "tail": {"text": "cerebrooculofacioskeletal syndrome", "start": 209, "end": 243}}]}}, "schema": []}
{"input": "The influence of smoking, gender, age, as well as polymorphisms in cytochrome P450 CYP2D6, CYP1A2, and ABCB1 genes on the serum and CSF drug levels was also analyzed.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 103, "end": 108}], "disease": [{"text": "smoking", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Among them, miR-29a showed a positive therapeutic effect in liver cancer cells by inhibiting cell growth and inducing cell apoptosis, and PPM1D was confirmed to be the target gene of miR-29a.", "output": {"entities": {"gene": [{"text": "miR-29a", "start": 12, "end": 19}], "disease": [{"text": "liver cancer", "start": 60, "end": 72}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-29a", "start": 12, "end": 19}, "tail": {"text": "liver cancer", "start": 60, "end": 72}}]}}, "schema": []}
{"input": "FISH analysis using a NUP98-specific clone showed a split signal, indicating that the NUP98 gene was affected by the translocation.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 86, "end": 96}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We analyzed IFN-gamma and IL-4 messenger RNA (mRNA) positive cells in liver sections from 18 patients with PBC and 35 disease controls including chronic active hepatitis C, extrahepatic biliary obstruction (EBO), and normal liver, using nonisotopic in situ hybridization and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "IFN", "start": 12, "end": 15}], "disease": [{"text": "extrahepatic biliary obstruction", "start": 173, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "At baseline, after 2 and 4 months and every 6 months thereafter, glomerular filtration rate (GFR), albuminuria, and 24-h blood pressure were determined.", "output": {"entities": {"gene": [{"text": "GFR", "start": 93, "end": 96}], "disease": [{"text": "albuminuria", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "An ergostane type triterpenoid methylantcinate A (MAA) isolated from the fruiting bodies of Antrodia camphorata inhibited the growth of oral cancer cell lines OEC-M1 and OC-2 in a dose-dependent manner, without cytotoxic to normal oral gingival fibroblast cells.", "output": {"entities": {"gene": [{"text": "OC-2", "start": 170, "end": 174}], "disease": [{"text": "oral cancer", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Mutations in KCNQ1, encoding for Kv7. 1, the & #945;-subunit of the IKs channel, cause long-QT syndrome type 1, potentially predisposing patients to ventricular tachyarrhythmias and sudden cardiac death, in particular, during elevated sympathetic tone.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 13, "end": 18}], "disease": [{"text": "long-QT syndrome type 1", "start": 87, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNQ1", "start": 13, "end": 18}, "tail": {"text": "long-QT syndrome type 1", "start": 87, "end": 110}}]}}, "schema": []}
{"input": "However, by 1 h of ischemia, the abundance of the cap-initiation complex protein eIF4G is reduced by relocalization into TIAR protein complexes, triggering 4E-BP1 sequestration of eIF4E and disruption of cap-dependent mRNA initiation complexes.", "output": {"entities": {"gene": [{"text": "4E-BP1", "start": 156, "end": 162}], "disease": [{"text": "ischemia", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p. R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay.", "output": {"entities": {"gene": [{"text": "BMS1", "start": 109, "end": 113}], "disease": [{"text": "ACC", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMS1", "start": 109, "end": 113}, "tail": {"text": "ACC", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22. 3 (SLEN1), 2q34-35 (SLEN2), and 11p15. 6 (SLEN3).", "output": {"entities": {"gene": [{"text": "SLEN3", "start": 134, "end": 139}], "disease": [{"text": "renal disease", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The mutations in either POMT1 or POMT2 can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration.", "output": {"entities": {"gene": [{"text": "POMT1", "start": 24, "end": 29}], "disease": [{"text": "Walker-Warburg syndrome", "start": 51, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POMT1", "start": 24, "end": 29}, "tail": {"text": "Walker-Warburg syndrome", "start": 51, "end": 74}}]}}, "schema": []}
{"input": "In conclusion, we provide evidence that the IGD in this previously unreported family with ACTH resistance appears to be secondary to compound heterozygosity of a coding region and a promoter mutation in the MC2R gene.", "output": {"entities": {"gene": [{"text": "MC2R", "start": 207, "end": 211}], "disease": [{"text": "ACTH resistance", "start": 90, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MC2R", "start": 207, "end": 211}, "tail": {"text": "ACTH resistance", "start": 90, "end": 105}}]}}, "schema": []}
{"input": "X-linked hydrocephalus (HSAS) (MIM * 307000), MASA syndrome (MIM * 303350), and complicated spastic paraplegia (SPG1) (MIM * 312900) are closely related.", "output": {"entities": {"gene": [{"text": "MIM", "start": 31, "end": 34}], "disease": [{"text": "spastic paraplegia", "start": 92, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.", "output": {"entities": {"gene": [{"text": "CTNS", "start": 16, "end": 20}], "disease": [{"text": "nephropathic cystinosis", "start": 70, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNS", "start": 16, "end": 20}, "tail": {"text": "nephropathic cystinosis", "start": 70, "end": 93}}]}}, "schema": []}
{"input": "Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis.", "output": {"entities": {"gene": [{"text": "AKR1C1", "start": 21, "end": 27}], "disease": [{"text": "endometriosis", "start": 94, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1C1", "start": 21, "end": 27}, "tail": {"text": "endometriosis", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Inhibition of experimental lung metastasis by systemic lentiviral delivery of kallistatin.", "output": {"entities": {"gene": [{"text": "kallistatin", "start": 78, "end": 89}], "disease": [{"text": "lung metastasis", "start": 27, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Markedly elevated serum TBPA is associated with euthyroid hyperthyroxinemia.", "output": {"entities": {"gene": [{"text": "TBPA", "start": 24, "end": 28}], "disease": [{"text": "euthyroid hyperthyroxinemia", "start": 48, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that silencing of the CDH13 gene by aberrant promoter methylation and allelic deletion is associated with tumorigenesis in a subset of B-DLCL.", "output": {"entities": {"gene": [{"text": "CDH13 gene", "start": 44, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "This study supports a role for HOMER2 gene in schizophrenia susceptibility.", "output": {"entities": {"gene": [{"text": "HOMER2", "start": 31, "end": 37}], "disease": [{"text": "schizophrenia", "start": 46, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOMER2", "start": 31, "end": 37}, "tail": {"text": "schizophrenia", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "CD4 (+) CD28 (null) T cells are expanded in peripheral blood of patients with chronic kidney disease and associated with subclinical atherosclerosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "atherosclerosis", "start": 133, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We studied the associations between 18 single nucleotide polymorphisms (SNPs) in CHRNA5-CHRNA3-CHRNB4 and systolic blood pressure (SBP), diastolic blood pressure (DBP), and body mass index (BMI) in 5402 young adults from the Northern Finland Birth Cohort 1966.", "output": {"entities": {"gene": [{"text": "CHRNA3", "start": 88, "end": 94}], "disease": [{"text": "systolic blood pressure", "start": 106, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The role of MSI in colorectal tumorigenesis was assessed further in this study by both microsatellite analysis of two CRC subsets [unselected patients (n = 215) and patients < 50 years of age (n = 95)], and mutation screening of the two major MMR genes MLH1 and MSH2 among familial CRC cases.", "output": {"entities": {"gene": [{"text": "MMR", "start": 243, "end": 246}], "disease": [{"text": "tumorigenesis", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Based on the common sleep phenotypes observed in del 2q23. 1, SMS, and FXS patients, we explored the possibility that MBD5, RAI1, and FMR1 function in overlapping circadian rhythm pathways.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 134, "end": 138}], "disease": [{"text": "circadian rhythm", "start": 163, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Conditioned medium from cells transfected with wild-type or variant BMP10 induced hypertrophy in rat neonatal cardiomyocytes, except that medium from variant BMP10-carrying cells showed an enhanced effect reflecting the increased secretion.", "output": {"entities": {"gene": [{"text": "BMP10", "start": 68, "end": 73}], "disease": [{"text": "hypertrophy", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "DRB1 and DQB1 alleles did not influence viral load as an independent factor.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 0, "end": 4}], "disease": [{"text": "viral load", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Here, we showed that some macrophages in the tumor stroma of nasopharyngeal carcinoma (NPC) tissue expressed the immunosuppressive protein indoleamine 2, 3-dioxygenase (IDO) more strongly than did tumor cells.", "output": {"entities": {"gene": [{"text": "IDO", "start": 169, "end": 172}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 61, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "TH1 pathway genes involved in anti-virus/bacterial infection and inflammation modify lung function in asthmatic subjects.", "output": {"entities": {"gene": [{"text": "TH1", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.", "output": {"entities": {"gene": [{"text": "ANKRD11", "start": 178, "end": 185}], "disease": [{"text": "ASD", "start": 236, "end": 239}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKRD11", "start": 178, "end": 185}, "tail": {"text": "ASD", "start": 236, "end": 239}}]}}, "schema": []}
{"input": "Our results thus suggest that KGF may have an important role in the molecular pathology of GH in vivo.", "output": {"entities": {"gene": [{"text": "KGF", "start": 30, "end": 33}], "disease": [{"text": "GH", "start": 91, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KGF", "start": 30, "end": 33}, "tail": {"text": "GH", "start": 91, "end": 93}}]}}, "schema": []}
{"input": "To investigate the possible association with susceptibility to HCC, 181 chronic hepatitis patients and 180 HCC patients were enrolled in this study.", "output": {"entities": {"gene": [{"text": "HCC", "start": 63, "end": 66}], "disease": [{"text": "chronic hepatitis", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effects of interleukin-8 (IL-8), macrophage migration inhibitory factor (MIF) gene polymorphisms, Helicobacter pylori (H. pylori) infection, on the risk of developing severe chronic atrophic gastritis (SCAG) and intestinal metaplasia (IM).", "output": {"entities": {"gene": [{"text": "MIF", "start": 92, "end": 95}], "disease": [{"text": "chronic atrophic gastritis", "start": 193, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "In this study, we utilize PCR array technique to examine hundreds of inflammation-related genes in the IL-4 Tg mice before and after the onset of skin lesions as well as in their wild type (WT) littermates.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 103, "end": 107}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The neovascular AMD involves proliferation of abnormal choroidal vessels, which penetrate the Bruch' s membrane and RPE layer into the subretinal space, thereby forming extensive clots and/or scars.", "output": {"entities": {"gene": [{"text": "RPE", "start": 116, "end": 119}], "disease": [{"text": "scars", "start": 192, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Treatment with 9-cis retinoic acid significantly inhibited Wnt5b expression in myometrial SMC but not in their leiomyoma counterparts.", "output": {"entities": {"gene": [{"text": "SMC", "start": 90, "end": 93}], "disease": [{"text": "leiomyoma", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The posttranslational regulation of proTRH processing in the paraventricular nucleus by thyroid status is a novel aspect of the regulation of the HPT axis, which may have important implications for the pathophysiology of hypo-and hyperthyroidism.", "output": {"entities": {"gene": [{"text": "HPT", "start": 146, "end": 149}], "disease": [{"text": "hyperthyroidism", "start": 230, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Thus, n-3 PUFAs and aliskiren improved electrical remodeling, arrhythmia induction, and connexin 43 expression, despite a 70-mm Hg difference in blood pressure and the development of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 88, "end": 99}], "disease": [{"text": "cardiac hypertrophy", "start": 183, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "In all, 24 desmoplastic small round cell tumors with EWS-WT1 fusion product confirmed by RT-PCR analysis were evaluated for expression of PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 by standard immunohistochemical methods with antigen retrieval on paraffin sections.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 138, "end": 144}], "disease": [{"text": "desmoplastic", "start": 11, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and \" patchy \" expression in the mosaic father.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 64, "end": 70}], "disease": [{"text": "achondrogenesis type II", "start": 19, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 64, "end": 70}, "tail": {"text": "achondrogenesis type II", "start": 19, "end": 42}}]}}, "schema": []}
{"input": "This review focuses on describing how, through reductionist in vitro experimentation focusing on TGF-β1-related responses to hyperglycaemia, we have identified induced in high glucose-1 (IHG-1), induced in high glucose-2 (IHG-2/Grem1) and the lipoxin-inducible microRNA let-7c as potential targets for harnessing new therapeutic approaches to limit the bioactivity of TGF-β1 in diabetic kidney disease.", "output": {"entities": {"gene": [{"text": "Grem1", "start": 228, "end": 233}], "disease": [{"text": "hyperglycaemia", "start": 125, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In most of sporadic ovarian cancer, variation in the expression of BRCA1 and BRCA2 genes was observed and it could be a consequence of epigenetic modifications.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 77, "end": 88}], "disease": [{"text": "sporadic", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "In mouse models, loss of the candidate tumor suppressor gene Ubiquitin Specific Protease 44 (USP44) is associated with aneuploidy and cancer.", "output": {"entities": {"gene": [{"text": "USP44", "start": 93, "end": 98}], "disease": [{"text": "aneuploidy", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The HepaRG-AMC-BAL retains functionality after both mild and severe exposure to ALF plasma, but urea production may be increasingly derived from arginase 2 activity instead of urea cycle activity.", "output": {"entities": {"gene": [{"text": "ALF", "start": 80, "end": 83}], "disease": [{"text": "mild", "start": 52, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The VEGF-460 genotype was predictive of retinopathy, even after controlling for blood pressure, glycemic control, duration of diabetes, and obesity (P = 0. 02).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 4, "end": 8}], "disease": [{"text": "blood pressure", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Importantly, adhesion of ovarian carcinoma cells to human peritoneal mesothelial cells was dependent on CX (3) CL1/CX (3) CR1 signaling.", "output": {"entities": {"gene": [{"text": "CL1", "start": 111, "end": 114}], "disease": [{"text": "adhesion", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "In those cells, RHOB deficiency causes hypersensitivity to BRAF and MEK inhibitors-induced apoptosis.", "output": {"entities": {"gene": [{"text": "RHOB", "start": 16, "end": 20}], "disease": [{"text": "hypersensitivity", "start": 39, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Lysophosphatidic acid (LPA) is present at high concentrations in ascites from ovarian cancer patients and has potent mitogenic properties in vitro.", "output": {"entities": {"gene": [{"text": "LPA", "start": 23, "end": 26}], "disease": [{"text": "ascites", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Linkage between the insulin-like growth factor 2 receptor (IGF2R) gene and the tissue overgrowth was also excluded.", "output": {"entities": {"gene": [{"text": "IGF2R", "start": 59, "end": 64}], "disease": [{"text": "overgrowth", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The present work demonstrates the existence of a db/db-specific up-regulation of adipocyte autotaxin expression, which could be related to the severe type 2 diabetes phenotype and adipocyte insulin resistance, rather than excess adiposity in itself.", "output": {"entities": {"gene": [{"text": "autotaxin", "start": 91, "end": 100}], "disease": [{"text": "insulin resistance", "start": 190, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that an Mre11-mediated DDR restrains mammary hyperplasia by effecting an oncogene-induced G2 arrest.", "output": {"entities": {"gene": [{"text": "Mre11", "start": 23, "end": 28}], "disease": [{"text": "hyperplasia", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 70, "end": 75}], "disease": [{"text": "familial HDL deficiency", "start": 94, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 70, "end": 75}, "tail": {"text": "familial HDL deficiency", "start": 94, "end": 117}}]}}, "schema": []}
{"input": "Hypoxia-induced recruitment of α (6) β (4) toward raft-located C4. 4A, MT1-MMP, and TACE allows for a shift from adhesion to motility, which is supported by laminin degradation.", "output": {"entities": {"gene": [{"text": "C4. 4A", "start": 63, "end": 69}], "disease": [{"text": "adhesion", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, secreted LOX is responsible for the invasive properties of hypoxic human cancer cells through focal adhesion kinase activity and cell to matrix adhesion.", "output": {"entities": {"gene": [{"text": "LOX", "start": 26, "end": 29}], "disease": [{"text": "hypoxic", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that GRK3-/-mice exhibit numerous features of human WHIM, such as impaired CXCL12-mediated desensitization, enhanced CXCR4 signaling to ERK activation, altered granulocyte migration, and a mild myelokathexis.", "output": {"entities": {"gene": [{"text": "GRK3", "start": 21, "end": 25}], "disease": [{"text": "myelokathexis", "start": 210, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "However, expression of CXCR7 provides cells with a growth and survival advantage and increased adhesion properties.", "output": {"entities": {"gene": [{"text": "CXCR7", "start": 23, "end": 28}], "disease": [{"text": "adhesion", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "It was observed that H2AX gene expression was negatively correlated with miR-24-2 expression and not in accordance with the gene copy number status, both in cell lines and in sporadic breast tumor tissues.", "output": {"entities": {"gene": [{"text": "miR-24-2", "start": 73, "end": 81}], "disease": [{"text": "breast tumor", "start": 184, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-24-2", "start": 73, "end": 81}, "tail": {"text": "breast tumor", "start": 184, "end": 196}}]}}, "schema": []}
{"input": "In the present study, the relationship between the CYP2C19 polymorphism and personality traits was examined in 487 Japanese healthy volunteers.", "output": {"entities": {"gene": [{"text": "CYP2C19", "start": 51, "end": 58}], "disease": [{"text": "personality traits", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Indoleamine 2, 3-dioxygenase, an immunomodulatory protein, is suppressed by (-)-epigallocatechin-3-gallate via blocking of gamma-interferon-induced JAK-PKC-delta-STAT1 signaling in human oral cancer cells.", "output": {"entities": {"gene": [{"text": "Indoleamine 2, 3-dioxygenase", "start": 0, "end": 28}], "disease": [{"text": "oral cancer", "start": 187, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "The levels of TP53, BRCA1 and TERT were assessed in 55 sporadic colorectal tumors and 37 normal mucosas using tissue microarrays and immunohistochemical detection, and their associations with DNA aneuploidy, levels of mitotic spindle proteins AURKA, AURKB, MAD2L1 and BUB1B and clinicopathological parameters were investigated.", "output": {"entities": {"gene": [{"text": "TP53", "start": 14, "end": 18}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we did not confirm that the genomic mutation of the FSH receptor is a major genetic cause in Korean infertile patients with high FSH levels.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 67, "end": 79}], "disease": [{"text": "infertile", "start": 115, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Epistatic interactions between BANK1 and BLK polymorphisms associated with SLE were observed in a discovery set of 279 patients and 515 controls from northern Europe.", "output": {"entities": {"gene": [{"text": "BANK1", "start": 31, "end": 36}], "disease": [{"text": "SLE", "start": 75, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BANK1", "start": 31, "end": 36}, "tail": {"text": "SLE", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "The intronic single-nucleotide polymorphism (SNP) rs780094 (intron 16) and the missense SNP rs1260326 (P446L) in the GCKR gene are strongly associated with increased circulating triglyceride and C-reactive protein levels and, paradoxically, reductions in diabetes incidence, fasting glucose levels, and insulin resistance.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 195, "end": 213}], "disease": [{"text": "insulin resistance", "start": 303, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "The SNPs most strongly implicated in bipolar alcoholism, but, which did not meet conventional genome-wide significance criteria were the insulin-like growth factor-binding protein 7, carboxypeptidase O, cerebellin 2, and the cadherin 12 genes.", "output": {"entities": {"gene": [{"text": "cadherin 12", "start": 225, "end": 236}], "disease": [{"text": "alcoholism", "start": 45, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cadherin 12", "start": 225, "end": 236}, "tail": {"text": "alcoholism", "start": 45, "end": 55}}]}}, "schema": []}
{"input": "Similarly to WNT5A knockdown, knockdown of the WNT receptors FZD7 and RYK inhibited growth, sensitized melanoma cells to BRAFi, and reduced AKT activation.", "output": {"entities": {"gene": [{"text": "RYK", "start": 70, "end": 73}], "disease": [{"text": "melanoma", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In non-carriers, FVIII was statistically significantly correlated with BMI, activated partial thromboplastin time (APTT), VWF antigen, hs-CRP and fibrinogen.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 17, "end": 22}], "disease": [{"text": "fibrinogen", "start": 146, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Using small interfering RNA silencing of protein expression in highly invasive MDA-MB-231 breast adenocarcinoma cells, we show that HDAC6 is required for two-dimensional matrix proteolysis.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 132, "end": 137}], "disease": [{"text": "breast adenocarcinoma", "start": 90, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Upon intravenous challenge with 60 MID50 of pathogenic SHIV-89. 6PD, all monkeys became infected; however, in contrast to the naive and mock-immunized monkeys, four of five mimotope-immunized monkeys experienced lower levels of peak viremia, followed by viral set points of undetectable or transient levels of viremia and a mild decline of CD4 + T cells, and were protected from progression to AIDS-like illness.", "output": {"entities": {"gene": [{"text": "CD4", "start": 340, "end": 343}], "disease": [{"text": "viremia", "start": 233, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "There was a high proportion of PRRT2 mutations found in families and sporadic cases with PKD associated with migraine or HM (10 out of 28).", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 31, "end": 36}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The patient' s findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c. 76dup, p. Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.", "output": {"entities": {"gene": [{"text": "RCS", "start": 81, "end": 84}], "disease": [{"text": "coloboma", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that systemic AAV/IL-10 gene delivery, with resulting inhibition of inflammation and oxidative stress, was able to limit atherogenesis, and suggest that this approach is worthy of further study.", "output": {"entities": {"gene": [{"text": "AAV", "start": 34, "end": 37}], "disease": [{"text": "inflammation", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.", "output": {"entities": {"gene": [{"text": "SGSH", "start": 110, "end": 114}], "disease": [{"text": "mucopolysaccharidosis III A", "start": 19, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGSH", "start": 110, "end": 114}, "tail": {"text": "mucopolysaccharidosis III A", "start": 19, "end": 46}}]}}, "schema": []}
{"input": "The untreated CKD rats exhibited azotemia, hypertension, hypertriglyceridemia, proteinuria, glomerulosclerosis, tubulointerstitial damage, upregulation of MCP-1, plasminogen activator inhibitor-1 (PAI-1), transforming growth factor (TGF)-beta, cyclooxygenase (COX)-1, COX-2, and NAD (P) H oxidase (NOX-4, gp91 (phox), p47 (phox) and p22 (phox) subunits) and activation of NF-kappaB (IkappaB phosphorylation).", "output": {"entities": {"gene": [{"text": "COX", "start": 260, "end": 263}], "disease": [{"text": "hypertriglyceridemia", "start": 57, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The fundus of gp130 (F/F)/Tff2 (-/-) mice displayed glandular atrophy and metaplasia, indicating accelerated preneoplasia.", "output": {"entities": {"gene": [{"text": "Tff2", "start": 26, "end": 30}], "disease": [{"text": "atrophy", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of TIP30 in apoptotic signal pathway in hepatoblastoma cells and to provide a basis for TIP30 as a gene therapy candidate in the regression of hepatoblastoma cells.", "output": {"entities": {"gene": [{"text": "TIP30", "start": 27, "end": 32}], "disease": [{"text": "regression", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "To find improved tools for prognostic evaluation in patients with colorectal cancer (CRC), we have analysed how infiltration of cytotoxic T lymphocytes (CD8 (+)) and regulatory T lymphocytes (FoxP3 (+)) correlates to prognosis, not only according to quantity and relation, but also to subsite within tumours of different molecular characteristics (microsatellite instability and CpG island methylator phenotype status).", "output": {"entities": {"gene": [{"text": "CD8", "start": 153, "end": 156}], "disease": [{"text": "microsatellite instability", "start": 348, "end": 374}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the possible presence of NOTCH2 variants in patients with primary open-angle glaucoma (POAG).", "output": {"entities": {"gene": [{"text": "NOTCH2", "start": 66, "end": 72}], "disease": [{"text": "primary open-angle glaucoma", "start": 99, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-1 receptor antagonist reduced apoptosis and attenuated intestinal mucositis in a 5-fluorouracil chemotherapy model in mice.", "output": {"entities": {"gene": [{"text": "Interleukin-1 receptor antagonist", "start": 0, "end": 33}], "disease": [{"text": "mucositis", "start": 78, "end": 87}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Interleukin-1 receptor antagonist", "start": 0, "end": 33}, "tail": {"text": "mucositis", "start": 78, "end": 87}}]}}, "schema": []}
{"input": "PRC also orchestrates a robust response to metabolic stress by promoting the expression of multiple genes specifying inflammation, proliferation, and metabolic reprogramming.", "output": {"entities": {"gene": [{"text": "PRC", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that induction of LPL mRNA by peroxisome proliferator-activated receptor (PPAR) alpha and gamma agonists or an LPL selective inducer suppresses both high serum lipid levels and intestinal polyp formation in these model animals.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 95, "end": 99}], "disease": [{"text": "intestinal polyp", "start": 198, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The GSTT1 genotype variant increased the risk of primary dysmenorrhea (GSTT1: OR = 1. 83, 95% CI 1. 04-3. 21).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 4, "end": 9}], "disease": [{"text": "primary dysmenorrhea", "start": 49, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We assessed levels of factor VIII, factor IX, fibrinogen, protein C, protein S, antithrombin, the presence of prothrombin 20210A, and the occurrence of VTE in 61 first-degree relatives of 12 selected thrombophilic families harbouring FVL, and 183 first-degree relatives of 47 unselected families of FVL carriers with a first VTE.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 22, "end": 33}], "disease": [{"text": "fibrinogen", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 27, "end": 31}], "disease": [{"text": "aniridia", "start": 222, "end": 230}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 27, "end": 31}, "tail": {"text": "aniridia", "start": 222, "end": 230}}]}}, "schema": []}
{"input": "Peroxisome proliferator-activated receptor alpha regulates skin inflammation and humoral response in atopic dermatitis.", "output": {"entities": {"gene": [{"text": "Peroxisome proliferator-activated receptor alpha", "start": 0, "end": 48}], "disease": [{"text": "atopic dermatitis", "start": 101, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Peroxisome proliferator-activated receptor alpha", "start": 0, "end": 48}, "tail": {"text": "atopic dermatitis", "start": 101, "end": 118}}]}}, "schema": []}
{"input": "BMSCs transfected with adenovirus-mediated human urokinase plasminogen activator (Ad-uPA) were transplanted into rats with CCl4-induced liver fibrosis.", "output": {"entities": {"gene": [{"text": "CCl4", "start": 123, "end": 127}], "disease": [{"text": "adenovirus", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We have evaluated immunohistochemical expression of BRCA2 protein and allelic loss of markers at the BRCA2 locus in tissue derived both from sporadic and from familial cases of prostate cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 52, "end": 57}], "disease": [{"text": "sporadic", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The present study examined whether hypolipidemic therapy with a potent HMG CoA reductase inhibitor, simvastatin, compromises the adrenal response to ACTH stimulation in adult patients with heterozygous familial hypercholesterolemia.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 149, "end": 153}], "disease": [{"text": "familial hypercholesterolemia", "start": 202, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that transfection with an androgen receptor (AR) expression vector of the androgen-independent (AI) prostate cancer cell line PC3 decreases invasion and adhesion of these cells through modulation of alpha6beta4 integrin expression.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 41, "end": 58}], "disease": [{"text": "adhesion", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In order to examine the transforming potential of the K-fgf gene in the nervous system, we combined retrovirus-mediated transfer of the K-fgf oncogene with a single transplacental exposure of the donor animals to the neurotropic carcinogen N-ethyl-N-nitrosourea (NEU).", "output": {"entities": {"gene": [{"text": "NEU", "start": 263, "end": 266}], "disease": [{"text": "nervous system", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Having documented COX deficiency histochemically and biochemically in the muscle biopsy from a patient with exercise-induced recurrent myoglobinuria, the authors sequenced the three mitochondrial DNA (mtDNA)-encoded COX genes, and performed restriction fragment length polymorphism analysis and single-fiber PCR.", "output": {"entities": {"gene": [{"text": "COX", "start": 18, "end": 21}], "disease": [{"text": "recurrent myoglobinuria", "start": 125, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Since both DNA repair capacity and p53 status can significantly alter radiation sensitivity, we evaluated these factors along with radiation sensitivity in a panel of sporadic human ovarian carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "p53", "start": 35, "end": 38}], "disease": [{"text": "sporadic", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Moreover, EOC cells display a marked increase in LOX-dependent FAK/AKT activation and cell migration following hypoxia/reoxygenation.", "output": {"entities": {"gene": [{"text": "LOX", "start": 49, "end": 52}], "disease": [{"text": "hypoxia", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The lysosomal cysteine proteinases, cathepsins B and L, have been associated with tumor invasiveness and the aim of this study was therefore to evaluate them, together with their endogenous inhibitors stefin B and cystatin C, as potential markers for the aggressiveness of meningiomas.", "output": {"entities": {"gene": [{"text": "stefin B", "start": 201, "end": 209}], "disease": [{"text": "aggressiveness", "start": 255, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "To address the relationship between the expression level of these genes and colorectal tumorigenesis, we studied BRCA1, BRCA2 and hMSH2 mRNA expression by real-time quantitative RT-PCR in 72 colorectal Lieberkühnien adenocarcinomas and matched normal mucosa.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 120, "end": 125}], "disease": [{"text": "tumorigenesis", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In contrast, analysis of V beta 8 + CD4 + T cells from the blood of an individual with a marked bias for peripheral blood V beta 8 + T cells demonstrated no evidence of oligoclonality, suggesting that the stimulus for circulating biased V beta-specific T cells in sarcoidosis may derive from a different, perhaps superantigenic, origin.", "output": {"entities": {"gene": [{"text": "CD4", "start": 36, "end": 39}], "disease": [{"text": "sarcoidosis", "start": 264, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "To examine association of polymorphic markers of I/D gene of angiotensin-converting enzyme (ACE), C (-344) T gene of aldosterone synthetase (CYP11B2) and 4a/4b gene of endothelial synthetase of nitric oxide (NOS3) with clinical picture of chronic glomerulonephritis (CGN).", "output": {"entities": {"gene": [{"text": "NOS3", "start": 208, "end": 212}], "disease": [{"text": "chronic glomerulonephritis", "start": 239, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.", "output": {"entities": {"gene": [{"text": "SMCHD1", "start": 36, "end": 42}], "disease": [{"text": "facioscapulohumeral muscular dystrophy 2", "start": 55, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMCHD1", "start": 36, "end": 42}, "tail": {"text": "facioscapulohumeral muscular dystrophy 2", "start": 55, "end": 95}}]}}, "schema": []}
{"input": "The vast majority of patients with ARPKD carry mutations in the recently characterized PKHD1 gene on chromosome 6p12.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 87, "end": 92}], "disease": [{"text": "ARPKD", "start": 35, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 87, "end": 92}, "tail": {"text": "ARPKD", "start": 35, "end": 40}}]}}, "schema": []}
{"input": "Mutations in the FSH receptor gene are not a common cause of infertility in ICSI candidates.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 17, "end": 29}], "disease": [{"text": "infertility", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Cell division cycle associated 2 (CDCA2) recruits protein phosphatase 1 to chromatin to antagonize activation of ataxia telangiectasia mutated (ATM)-dependent signal transduction.", "output": {"entities": {"gene": [{"text": "CDCA2", "start": 34, "end": 39}], "disease": [{"text": "telangiectasia", "start": 120, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The relationship between XRCC3 gene polymorphism and susceptibility to lead poisoning in male lead-exposed workers was analyzed.", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 25, "end": 30}], "disease": [{"text": "lead poisoning", "start": 71, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XRCC3", "start": 25, "end": 30}, "tail": {"text": "lead poisoning", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "To investigate the associations of uncoupling protein (UCP) 2 and UCP3 gene variants with overweight and related traits, we genotyped UCP2-866G > A, UCP2Ala55Val, and UCP3-55C > T in 737 Korean children and 732 adults and collected data regarding anthropometric status and blood biochemistry.", "output": {"entities": {"gene": [{"text": "UCP3 gene", "start": 66, "end": 75}], "disease": [{"text": "overweight", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Incubation with interleukin-2 further increased the cytotoxic activity against EpCAM-positive ovarian cancer cell lines.", "output": {"entities": {"gene": [{"text": "EpCAM", "start": 79, "end": 84}], "disease": [{"text": "ovarian cancer", "start": 94, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EpCAM", "start": 79, "end": 84}, "tail": {"text": "ovarian cancer", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection.", "output": {"entities": {"gene": [{"text": "MNK", "start": 112, "end": 115}], "disease": [{"text": "Menkes disease", "start": 62, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MNK", "start": 112, "end": 115}, "tail": {"text": "Menkes disease", "start": 62, "end": 76}}]}}, "schema": []}
{"input": "Npc1 (-/-) mice responded to a copper-deficient diet with a decrease in copper content in the liver, bile and heart.", "output": {"entities": {"gene": [{"text": "Npc1", "start": 0, "end": 4}], "disease": [{"text": "liver", "start": 94, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Npc1", "start": 0, "end": 4}, "tail": {"text": "liver", "start": 94, "end": 99}}]}}, "schema": []}
{"input": "In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders.", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 326, "end": 344}], "disease": [{"text": "malformations of cortical development", "start": 113, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Clonal sequences recovered from plasma from patients with residual HIV-1 viremia and on intensified antiretroviral therapy are identical to replicating viral RNAs recovered from circulating resting CD4 + T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 198, "end": 201}], "disease": [{"text": "viremia", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Ovotestes and XY sex reversal in a female with an interstitial 9q33. 3-q34. 1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 110, "end": 115}], "disease": [{"text": "sex reversal", "start": 17, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that hypoxia stimulates MDA231 cells to release CTGF as an angiogenic modulator, which initiates the invasive angiogenesis cascade by modulating the balance of extracellular matrix synthesis and degradation via MMPs secreted by endothelial cells in response to CTGF.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 71, "end": 75}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Several pathogenic mutations in GCDH have been reported to cause GAI.", "output": {"entities": {"gene": [{"text": "GCDH", "start": 32, "end": 36}], "disease": [{"text": "GAI", "start": 65, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCDH", "start": 32, "end": 36}, "tail": {"text": "GAI", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "We conclude that in this population the plasma Lp (a) concentration is not predicted by the plasma lipid profile, alcohol intake, or smoking status but is predicted, albeit incompletely, by the length polymorphism of the APO (a) gene.", "output": {"entities": {"gene": [{"text": "APO", "start": 221, "end": 224}], "disease": [{"text": "alcohol intake", "start": 114, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 69, "end": 73}], "disease": [{"text": "underweight", "start": 130, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that reduced expression of cystatin B in esophageal-carcinoma tissue is associated with lymph-node metastasis and may therefore prove to be a useful marker for predicting the biologic aggressiveness of human esophageal carcinoma.", "output": {"entities": {"gene": [{"text": "cystatin B", "start": 46, "end": 56}], "disease": [{"text": "aggressiveness", "start": 203, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Reductions in FAT and phosphorylation abnormalities correlated with motor neuron functional deficits.", "output": {"entities": {"gene": [{"text": "FAT", "start": 14, "end": 17}], "disease": [{"text": "abnormalities", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Diabetes increased the expression and immunoreactivity of KIF1A and KIF5B in the hippocampus, but no alterations in dynein were detected.", "output": {"entities": {"gene": [{"text": "KIF1A", "start": 58, "end": 63}], "disease": [{"text": "Diabetes", "start": 0, "end": 8}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIF1A", "start": 58, "end": 63}, "tail": {"text": "Diabetes", "start": 0, "end": 8}}]}}, "schema": []}
{"input": "Genotype profiles for GLAST; N-methyl-d-aspartate-receptor subunits NR1, NR2A, and NR2B; MGLUR5; NNOS; PRKG2; CAMK4; the regulatory subunit of PI3K; and CREB were analyzed for association with alcohol dependence using multivariate statistical analysis.", "output": {"entities": {"gene": [{"text": "CREB", "start": 153, "end": 157}], "disease": [{"text": "alcohol dependence", "start": 193, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CREB", "start": 153, "end": 157}, "tail": {"text": "alcohol dependence", "start": 193, "end": 211}}]}}, "schema": []}
{"input": "Thus, it is unlikely that PTPN11 is one of the genes underlying stature variations in the general population.", "output": {"entities": {"gene": [{"text": "PTPN11", "start": 26, "end": 32}], "disease": [{"text": "stature", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "These studies were extended to characterize the role of methylation of the RAR-beta gene in murine lung cancers.", "output": {"entities": {"gene": [{"text": "RAR-beta", "start": 75, "end": 83}], "disease": [{"text": "lung cancers", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAR-beta", "start": 75, "end": 83}, "tail": {"text": "lung cancers", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "We have observed a severe atypical neuropathy (SAN) in patients with small non-cleaved-cell (SNCL) and large-cell lymphoma (LCL) treated with intensive chemotherapy and hematopoietic colony-stimulating factors (CSFs).", "output": {"entities": {"gene": [{"text": "SAN", "start": 47, "end": 50}], "disease": [{"text": "neuropathy", "start": 35, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we show that alterations of the SDHD gene seem to be involved in the tumorigenesis of both midgut carcinoids and Merkel cell carcinomas.", "output": {"entities": {"gene": [{"text": "SDHD gene", "start": 47, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The transcript levels of the HSP90 isoforms HSP90α, HSP90β, glucose-related protein 94, and TNF receptor-associated protein 1 were significantly increased in PET compared with non-neoplastic pancreatic tissues.", "output": {"entities": {"gene": [{"text": "HSP90", "start": 29, "end": 34}], "disease": [{"text": "non-neoplastic", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "This review first presents current evidence for the peripheral inflammation/nerve injury-induced change in the expression of two types of noncoding RNAs, microRNAs, and Kcna2 antisense RNA, in pain-related regions, particularly in the dorsal root ganglion.", "output": {"entities": {"gene": [{"text": "Kcna2", "start": 169, "end": 174}], "disease": [{"text": "inflammation", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Several lines of evidence have suggested that substance abuse is mediated by the dopaminergic rewarding system, primarily through the activity of the dopamine receptor D1 (DRD1).", "output": {"entities": {"gene": [{"text": "DRD1", "start": 172, "end": 176}], "disease": [{"text": "substance abuse", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Therefore, Kv1. 3 may serve as a novel molecular target for breast cancer therapy while its stage-specific expression pattern may provide a potential diagnostic marker for breast cancer development.", "output": {"entities": {"gene": [{"text": "Kv1. 3", "start": 11, "end": 17}], "disease": [{"text": "breast cancer", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "XBP1 confers an important role in protection against oxidative stress in gliomas, potentially via up-regulation of antioxidant molecules such as catalase.", "output": {"entities": {"gene": [{"text": "XBP1", "start": 0, "end": 4}], "disease": [{"text": "gliomas", "start": 73, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XBP1", "start": 0, "end": 4}, "tail": {"text": "gliomas", "start": 73, "end": 80}}]}}, "schema": []}
{"input": "During the peak month of the 2011 outbreak, 45 GAS isolates recovered from pediatric patients and 13 (43. 3%) GAS isolates recovered from 30 asymptomatic student contacts were characterized by emm typing, superantigen profiles, pulsed-field gel electrophoresis genotypes, mutilocus sequence typing and antimicrobial susceptibility.", "output": {"entities": {"gene": [{"text": "GAS", "start": 47, "end": 50}], "disease": [{"text": "asymptomatic", "start": 141, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the activation of TRPV1 channels by capsaicin prevented adipogenesis and obesity.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 35, "end": 40}], "disease": [{"text": "obesity", "start": 90, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPV1", "start": 35, "end": 40}, "tail": {"text": "obesity", "start": 90, "end": 97}}]}}, "schema": []}
{"input": "In summary, Possession of-173 G → C substitution and-794 non-CATT (5) carrier in the MIF promoter region are associated with increased susceptibility to non-cardia gastric cancer.", "output": {"entities": {"gene": [{"text": "MIF", "start": 85, "end": 88}], "disease": [{"text": "gastric cancer", "start": 164, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Studies using inhibitors of phosphatidylinositide 3-kinases have indicated that production of PtdIns (3) P is important for a variety of vesicle-mediated trafficking events, including endocytosis, sorting of receptors in multivesicular endosomes, and transport of lysosomal enzymes from the trans-Golgi network (TGN) to the endosomes and lysosomes.", "output": {"entities": {"gene": [{"text": "TGN", "start": 312, "end": 315}], "disease": [{"text": "vesicle", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "EPMR patients were homozygous for a missense mutation (70C--& gt; G, R24G) that was not found in homozygosity in 433 controls. We also cloned the mouse Cln8 sequence.", "output": {"entities": {"gene": [{"text": "Cln8", "start": 152, "end": 156}], "disease": [{"text": "EPMR", "start": 0, "end": 4}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cln8", "start": 152, "end": 156}, "tail": {"text": "EPMR", "start": 0, "end": 4}}]}}, "schema": []}
{"input": "Both glioma and infiltrating M/MΦ cells express the Ca (2 +)-activated K (+) channel (KCa3. 1), and the inhibition of KCa3. 1 activity on glioma cells reduces tumor infiltration in the healthy brain parenchyma.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 118, "end": 125}], "disease": [{"text": "glioma", "start": 5, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Reduced expression of ß-catenin target genes is consistent with the Nup98 reduction and the galectin-3-nucleus translocation rate.", "output": {"entities": {"gene": [{"text": "Nup98", "start": 68, "end": 73}], "disease": [{"text": "translocation", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "By screening the hTR gene, we identified mutations in two of 17 patients with idiopathic aplastic anaemia, three of 27 patients with constitutional aplastic anaemia, but in none of 214 normal controls (p & lt; 0. 0001).", "output": {"entities": {"gene": [{"text": "hTR", "start": 17, "end": 20}], "disease": [{"text": "idiopathic aplastic anaemia", "start": 78, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hTR", "start": 17, "end": 20}, "tail": {"text": "idiopathic aplastic anaemia", "start": 78, "end": 105}}]}}, "schema": []}
{"input": "Mutations in AP5Z1, encoding a subunit of the AP-5 complex, have been reported to cause hereditary spastic paraplegia (HSP), although their impact at the cellular level has not been assessed.", "output": {"entities": {"gene": [{"text": "AP-5", "start": 46, "end": 50}], "disease": [{"text": "spastic paraplegia", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated by qRT-PCR that PSA-RP2 is upregulated in prostate cancer compared with benign prostatic hyperplasia tissues.", "output": {"entities": {"gene": [{"text": "RP2", "start": 36, "end": 39}], "disease": [{"text": "prostate cancer", "start": 58, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that calcilytics can reverse almost all the phenotypes of ADH including hypercalciuria and renal calcification, and suggest that calcilytics can become a novel therapeutic agent for ADH.", "output": {"entities": {"gene": [{"text": "ADH", "start": 84, "end": 87}], "disease": [{"text": "hypercalciuria", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We investigated 11 patients with the dyad of' paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively).", "output": {"entities": {"gene": [{"text": "SDHD", "start": 238, "end": 242}], "disease": [{"text": "paraganglioma and gastric stromal sarcoma", "start": 46, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHD", "start": 238, "end": 242}, "tail": {"text": "paraganglioma and gastric stromal sarcoma", "start": 46, "end": 87}}]}}, "schema": []}
{"input": "In JD40 and ST486 cells, the amplified c-myc sequences were found on high-molecular-weight chromosomes ST486 cells also contained translocated C-myc sequences in low-molecular-weight, extrachromosomal DNA, as did CA46 cells.", "output": {"entities": {"gene": [{"text": "C-myc", "start": 143, "end": 148}], "disease": [{"text": "weight", "start": 84, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide evidence that GPR109A is a target for the drug Fumaderm and suggest that niacin should be investigated to treat psoriasis in addition to its role in treating lipid disorders.", "output": {"entities": {"gene": [{"text": "GPR109A", "start": 35, "end": 42}], "disease": [{"text": "lipid disorders", "start": 179, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Also, expression of IFN-γ of non-necrotizing granulomas was significantly higher than that of necrotizing granulomas in the hyperplasia group, and expression of TGF-β in necrotizing granulomas was significantly higher than that of non-necrotizing granulomas in the necrosis group.", "output": {"entities": {"gene": [{"text": "IFN", "start": 20, "end": 23}], "disease": [{"text": "hyperplasia", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Matrilysin gene expression in sporadic and familial colorectal adenomas.", "output": {"entities": {"gene": [{"text": "Matrilysin", "start": 0, "end": 10}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "PLK1 overexpression is a negative prognostic factor in patients suffering from non-small cell lung cancer, head and neck tumors, esophageal carcinomas and melanomas.", "output": {"entities": {"gene": [{"text": "PLK1", "start": 0, "end": 4}], "disease": [{"text": "esophageal", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.", "output": {"entities": {"gene": [{"text": "SLC34A3", "start": 0, "end": 7}], "disease": [{"text": "hereditary hypophosphatemic rickets with hypercalciuria", "start": 35, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC34A3", "start": 0, "end": 7}, "tail": {"text": "hereditary hypophosphatemic rickets with hypercalciuria", "start": 35, "end": 90}}]}}, "schema": []}
{"input": "A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2.", "output": {"entities": {"gene": [{"text": "alpha 4", "start": 16, "end": 23}], "disease": [{"text": "multiple endocrine neoplasia", "start": 67, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Therefore, PKP2 variants in Brugada Syndrome cases should be interpreted carefully and additional studies including family segregation should be performed before translation into clinical practice.", "output": {"entities": {"gene": [{"text": "PKP2", "start": 11, "end": 15}], "disease": [{"text": "Brugada Syndrome", "start": 28, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKP2", "start": 11, "end": 15}, "tail": {"text": "Brugada Syndrome", "start": 28, "end": 44}}]}}, "schema": []}
{"input": "Cyclin E is deregulated in cancer and appears as low-molecular-weight (LMW) isoforms that correlate strongly with decreased survival in breast cancer patients.", "output": {"entities": {"gene": [{"text": "Cyclin E", "start": 0, "end": 8}], "disease": [{"text": "weight", "start": 63, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The random forest analysis demonstrated that only clinical covariates were important in the prediction of growth response in mild GHD (> 4 to < 10 μg/L on GH stimulation test), however, in severe GHD (≤ 4 μg/L) several SNPs contributed (in IGF2, GRB10, FOS, IGFBP3 and GHRHR).", "output": {"entities": {"gene": [{"text": "GRB10", "start": 246, "end": 251}], "disease": [{"text": "mild", "start": 125, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Among the panel of ESCC cell lines, TE14 showed the highest MRP2 mRNA expression along with the strongest resistance to CDDP.", "output": {"entities": {"gene": [{"text": "MRP2", "start": 60, "end": 64}], "disease": [{"text": "ESCC", "start": 19, "end": 23}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MRP2", "start": 60, "end": 64}, "tail": {"text": "ESCC", "start": 19, "end": 23}}]}}, "schema": []}
{"input": "High levels of saturated NEFA, such as palmitate, when combined with hyperinsulinemia, may activate human monocytes to produce proinflammatory cytokines and support the development and propagation of the subacute, chronic inflammatory state that is characteristic of insulin resistance.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 25, "end": 29}], "disease": [{"text": "insulin resistance", "start": 267, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings suggest that CpG methylation and MBD2 are involved in altering Scn3a expression during postnatal development and seizure condition.", "output": {"entities": {"gene": [{"text": "MBD2", "start": 64, "end": 68}], "disease": [{"text": "seizure", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).", "output": {"entities": {"gene": [{"text": "TP53", "start": 408, "end": 412}], "disease": [{"text": "HBOC", "start": 56, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 408, "end": 412}, "tail": {"text": "HBOC", "start": 56, "end": 60}}]}}, "schema": []}
{"input": "These are: (i) low relative resting metabolic rate (RMR, relative to the average predicted rate for body size), (ii) low level of spontaneous physical activity (SPA), (iii) high 24 h respiratory quotient (RQ) and (iv) high insulin sensitivity (IS).", "output": {"entities": {"gene": [{"text": "SPA", "start": 161, "end": 164}], "disease": [{"text": "insulin sensitivity", "start": 223, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.", "output": {"entities": {"gene": [{"text": "EIF2AK3", "start": 57, "end": 64}], "disease": [{"text": "mild", "start": 276, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "Having a high IGF-I/IGFBP-3 ratio was associated with increased persistence of oncogenic HPV infection [that is, a lower rate of clearance; adjusted hazard ratio (AHR), 0. 14; 95% confidence interval (95% CI), 0. 04-0. 57], whereas IGFBP-3 was inversely associated with both the incident detection of oncogenic HPV (AHR, 0. 35; 95% CI, 0. 13-0. 93) and the incidence of oncogenic HPV-positive cervical neoplasia (that is, squamous intraepithelial lesions at risk of progression; AHR, 0. 07; 95% CI, 0. 01-0. 66).", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 14, "end": 19}], "disease": [{"text": "squamous intraepithelial lesions", "start": 422, "end": 454}]}, "relations": {}}, "schema": []}
{"input": "This review focuses on providing an overview of the role of RhoA/Rho kinase in currently available animal models of pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 65, "end": 75}], "disease": [{"text": "pulmonary hypertension", "start": 116, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We took advantage of highly efficient adeno-associated virus-mediated (AAV-mediated) gene transfer into mouse muscle to induce a robust and sustained secretion of mouse erythropoietin in beta-thalassemic mice, which represent a suitable model for human beta-thalassemia intermedia.", "output": {"entities": {"gene": [{"text": "AAV", "start": 71, "end": 74}], "disease": [{"text": "beta-thalassemia intermedia", "start": 253, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "We therefore determined in nine patients with hereditary angioneurotic oedema (HANE) with obvious quantitative or functional defects of C-1-INA, and one further patient with Quincke-type oedema of different origin, the coagulation factors of the initial phase such as Hageman factor, plasma thromboplastin antecedent (PTA) and high molecular weight kininogen (HMWK).", "output": {"entities": {"gene": [{"text": "INA", "start": 140, "end": 143}], "disease": [{"text": "oedema", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Patch clamp of cultured endothelial cells exposed to hypoxia showed that upregulation of SUR1 was associated with expression of functional SUR1-regulated NC (Ca-ATP) channels.", "output": {"entities": {"gene": [{"text": "SUR1", "start": 89, "end": 93}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the effects of FKBP12. 6 over-expression and gender on Ca (2 +)-handling proteins (RyR2, SERCA2a/PLB, and NCX), and on pro-(CaMKII, Cn/NFAT) and anti-hypertrophic (GSK3β) signalling pathways in a thoracic aortic constriction (TAC) mouse model.", "output": {"entities": {"gene": [{"text": "PLB", "start": 119, "end": 122}], "disease": [{"text": "thoracic", "start": 218, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "A total of 105 sporadic breast carcinomas were analysed for LOH in the regions of BRCA1, BRCA2, TP53, Caveolin1, \" putative BRCA3 \", PTEN, ATM and E-cadherin and correlated it with clinicopathological features.", "output": {"entities": {"gene": [{"text": "TP53", "start": 96, "end": 100}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Thirty days after administration, changes in paw swelling, arthritis index (AI), pulmonary function, levels of serum gamma-interferon (IFN-gamma) and interleukin (IL)-4, Tregs in peripheral blood, and IFN-gamma, IL-4, Forkhead box transcription factor 3 (FoxP3) in lung tissue were observed by enzyme-linked immunosorbent assay, flow cytometry, polymerase chain reaction, and western blot.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 212, "end": 216}], "disease": [{"text": "pulmonary function", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "rs3812704 upstream of NEUROG3 significantly increased risk for type 2 diabetes in normal-weight/lean subjects (OR = 1. 68 (95% CI 1. 25-2. 24), P = 4. 9 × 10 (-4)).", "output": {"entities": {"gene": [{"text": "NEUROG3", "start": 22, "end": 29}], "disease": [{"text": "weight", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Importantly, we found that the effects of CD40L can be transmitted between HUVECs and monocytic THP1 cells through intercellular CD40-CD40L interaction and these processes are augmented under hypoxia.", "output": {"entities": {"gene": [{"text": "THP1", "start": 96, "end": 100}], "disease": [{"text": "hypoxia", "start": 192, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "However, little is known about the role of ZFX in tumorigenesis.", "output": {"entities": {"gene": [{"text": "ZFX", "start": 43, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Given the considerable evidence that anxiety and depression are closely linked with abnormalities in sleep, the data presented here provide further evidence that neurotensin and Ntsr1 may be a component of a pathway involved in both sleep and mood disorders.", "output": {"entities": {"gene": [{"text": "neurotensin", "start": 162, "end": 173}], "disease": [{"text": "depression", "start": 49, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurotensin", "start": 162, "end": 173}, "tail": {"text": "depression", "start": 49, "end": 59}}]}}, "schema": []}
{"input": "Furthermore, there was a greater accumulation of fibrillar collagen fibres within the vascular wall and plaque in diabetic Nox4 (-/-) ApoE (-/-) mice, indicative of plaque remodeling.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 123, "end": 127}], "disease": [{"text": "plaque", "start": 104, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Hemodynamic deficit was less severe in VEGF-transfected animals by calf systolic blood pressure ratio (0. 80 +/-0. 09 versus 0. 56 +/-0. 10, P <. 01) and by flow to the ischemic limb measured with Doppler guidewire (resting flow = 22 +/-5 versus 14 +/-4; P <. 01; hyperemic flow = 59 +/-17 versus 39 +/-12 mL/min; P <. 05).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 39, "end": 43}], "disease": [{"text": "systolic blood pressure", "start": 72, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In this study we present evidence for linkage of five IRS-related traits [body mass index (BMI), waist circumference (WC), In split proinsulin (LSPI), In triglycerides (LTG), and high-density lipoprotein cholesterol (HDLC)] to a region at 7q11. 23.", "output": {"entities": {"gene": [{"text": "LTG", "start": 169, "end": 172}], "disease": [{"text": "waist circumference", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the HspA2, like Hsp70 protein, can be involved in protecting nucleoli and centrosomes integrity in cancer cells subjected to heat shock and, possibly, other cellular stressors.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 41, "end": 46}], "disease": [{"text": "shock", "start": 155, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The translocation between chromosomes 12 and 22 was confirmed by FISH analysis and the hybrid EWS/ATF-1 transcript induced by this translocation was detected by RT-PCR.", "output": {"entities": {"gene": [{"text": "EWS", "start": 94, "end": 97}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The expression of EMT-related proteins and epidermal growth factor receptor was evaluated by immunohistochemistry of liver tissues from 102 patients with hepatolithiasis, 32 patients with post-hepatitis cirrhosis, and 48 normal livers.", "output": {"entities": {"gene": [{"text": "EMT", "start": 18, "end": 21}], "disease": [{"text": "hepatolithiasis", "start": 154, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Using this as a model, we found a predominant role for the Th17 signature cytokines IL-17A, IL-17F, and IL-22 in psoriasiform plaque formation in mice.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 104, "end": 109}], "disease": [{"text": "plaque", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 58, "end": 63}], "disease": [{"text": "chromosome translocation", "start": 92, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "This review will focus on the clues linking p53 to the etiology of PD and the evidences that this protein may be at the center of multiple signaling cascades not only altered by mutations of various proteins responsible for familial cases of PD but also on more general sporadic cases of this devastating disease.", "output": {"entities": {"gene": [{"text": "p53", "start": 44, "end": 47}], "disease": [{"text": "sporadic", "start": 270, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem and spinal cord and sensory axonal neuropathy.", "output": {"entities": {"gene": [{"text": "MIM", "start": 48, "end": 51}], "disease": [{"text": "sensory axonal neuropathy", "start": 218, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "To study the genetic defects, which caused problems in spermatogenesis, we screened the point mutations of the FSH receptor gene in infertile men with high serum FSH concentrations.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 111, "end": 123}], "disease": [{"text": "infertile", "start": 132, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "peanut dust levels and FLG mutations on peanut sensitization and peanut allergy.", "output": {"entities": {"gene": [{"text": "FLG", "start": 23, "end": 26}], "disease": [{"text": "peanut allergy", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The level of apoptosis and necrosis was increased significantly with GSTP1 antisense vector transfection.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 69, "end": 74}], "disease": [{"text": "necrosis", "start": 27, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GSTP1", "start": 69, "end": 74}, "tail": {"text": "necrosis", "start": 27, "end": 35}}]}}, "schema": []}
{"input": "During radiation-induced T-cell leukemogenesis, high levels of LYAR were expressed in preleukemic thymocytes and in acute T leukemia cells.", "output": {"entities": {"gene": [{"text": "LYAR", "start": 63, "end": 67}], "disease": [{"text": "leukemogenesis", "start": 32, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "TDP-43 is not only a pathological hallmark, but also a genetic cause for ALS.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 0, "end": 6}], "disease": [{"text": "ALS", "start": 73, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TDP-43", "start": 0, "end": 6}, "tail": {"text": "ALS", "start": 73, "end": 76}}]}}, "schema": []}
{"input": "The BRCA1 gene encodes a tumor suppressor that is mutated in 50% of familial breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 4, "end": 9}], "disease": [{"text": "breast cancers", "start": 77, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 4, "end": 9}, "tail": {"text": "breast cancers", "start": 77, "end": 91}}]}}, "schema": []}
{"input": "However, it resulted from the activation of a phosphatidylinositol 3-kinases-like mitogen-activated protein kinase pathway, as assessed by the fact that LY294002 and U0126 restored high Cdx2 expression in hypoxia.", "output": {"entities": {"gene": [{"text": "Cdx2", "start": 186, "end": 190}], "disease": [{"text": "hypoxia", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Stimulation of macrophages with a set of cytokines and with hypoxia revealed that IL-4, IL-13, LPS and hypoxia further increase the ALOX15B mRNA.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 88, "end": 93}], "disease": [{"text": "hypoxia", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "NIPP1/EZH2 knockdown in HCC cell lines under hypoxia suppressed the malignant phenotypes, reduced the expression of hypoxia-inducible Factor 1α, downstream molecules of EZH2, and inhibit the activity of inflammatory factors.", "output": {"entities": {"gene": [{"text": "NIPP1", "start": 0, "end": 5}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In chronic myeloid neoplasm with eosinophilia and abnormalities of PDGFRA the FIP1L1-PDGFRA fusion gene can be detected.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 67, "end": 73}], "disease": [{"text": "abnormalities", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles.", "output": {"entities": {"gene": [{"text": "MRI", "start": 49, "end": 52}], "disease": [{"text": "enlargement", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Administration of NOD1 ligand (DAP) significantly enhanced myocardial I/R injury, as demonstrated by increased infarct size, the number of TUNEL-positive nuclei, caspase-3 activity, the infiltration of Mac-2-and IL-6-positive cells as compared with untreated heart or cardiomyocytes after I/R injury.", "output": {"entities": {"gene": [{"text": "NOD1", "start": 18, "end": 22}], "disease": [{"text": "infarct", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.", "output": {"entities": {"gene": [{"text": "TECPR2", "start": 0, "end": 6}], "disease": [{"text": "Neuroaxonal Dystrophy", "start": 18, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TECPR2", "start": 0, "end": 6}, "tail": {"text": "Neuroaxonal Dystrophy", "start": 18, "end": 39}}]}}, "schema": []}
{"input": "During prolonged hypoxia, down-regulation of miR-21 proved necessary and sufficient for enhancing expression of both proteins.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 45, "end": 51}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The presence of iNOS in mitochondria of human HCC cells phenotype probably concurs to a more aggressive behaviour of cancer cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 46, "end": 49}], "disease": [{"text": "aggressive behaviour", "start": 93, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Hsp90-β and annexin A1 have been demonstrated to be associated with tumorigenesis.", "output": {"entities": {"gene": [{"text": "annexin A1", "start": 12, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We have identified a t (8; 9) (p21-23; p23-24) in seven male patients (mean age 50, range 32-74) with diverse hematologic malignancies and clinical outcomes: atypical chronic myeloid leukemia/chronic eosinophilic leukemia (n = 5), secondary acute myeloid leukemia (n = 1), and pre-B-cell acute lymphoblastic leukemia (n = 1).", "output": {"entities": {"gene": [{"text": "p21", "start": 31, "end": 34}], "disease": [{"text": "secondary acute myeloid leukemia", "start": 231, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to determine the possible effect of ApoE gene polymorphism on spinal bone mineral density and metabolic bone markers in Greek women.", "output": {"entities": {"gene": [{"text": "ApoE gene", "start": 69, "end": 78}], "disease": [{"text": "bone mineral density", "start": 102, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.", "output": {"entities": {"gene": [{"text": "MTM1", "start": 17, "end": 21}], "disease": [{"text": "X-linked myotubular myopathy", "start": 41, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTM1", "start": 17, "end": 21}, "tail": {"text": "X-linked myotubular myopathy", "start": 41, "end": 69}}]}}, "schema": []}
{"input": "PTD-FNK (a total of 30 microl) was injected intramuscularly into the anterior wall of the left ventricle either at 1 min after induction of global ischemia (group A) or at 30 min after induction of global ischemia (at 5 min before reperfusion) (group B).", "output": {"entities": {"gene": [{"text": "FNK", "start": 4, "end": 7}], "disease": [{"text": "ischemia", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Deficiency of synapsin II resulted in reduced mechanical and cold allodynia in two models of peripheral neuropathic pain.", "output": {"entities": {"gene": [{"text": "synapsin II", "start": 14, "end": 25}], "disease": [{"text": "allodynia", "start": 66, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "synapsin II", "start": 14, "end": 25}, "tail": {"text": "allodynia", "start": 66, "end": 75}}]}}, "schema": []}
{"input": "Relation of weight maintenance and dietary restraint to peroxisome proliferator-activated receptor gamma2, glucocorticoid receptor, and ciliary neurotrophic factor polymorphisms.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 107, "end": 130}], "disease": [{"text": "weight", "start": 12, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Only 4 (13%) sporadic adenomas showed nuclear p53 staining, but no p53 mutations were detected in exons 5 to 8.", "output": {"entities": {"gene": [{"text": "p53", "start": 46, "end": 49}], "disease": [{"text": "sporadic", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We showed that the repression of PIM1 in astrocytoma cancer cells by miR-124-3p suppressed proliferation, invasion, and aerobic glycolysis and promoted apoptosis.", "output": {"entities": {"gene": [{"text": "PIM1", "start": 33, "end": 37}], "disease": [{"text": "astrocytoma", "start": 41, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The associations between the methylation of selected DMCpGs with childhood obesity were validated using sodium bisulfite pyrosequencing across loci within the FYN, PIWIL4, and TAOK3 genes in individual subjects.", "output": {"entities": {"gene": [{"text": "TAOK3", "start": 176, "end": 181}], "disease": [{"text": "childhood obesity", "start": 65, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Whether ERK1/2/p27 signal pathway is involved in CGRP-mediated pathogenesis of pulmonary hypertension and vascular remodeling remains unknown.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 8, "end": 12}], "disease": [{"text": "vascular remodeling", "start": 106, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Trisomy 3 was observed only in angioimmunoblastic lymphadenopathy with dysproteinemia (AILD)-type PTL, T-zone lymphoma, and lymphoepithelioid lymphoma.", "output": {"entities": {"gene": [{"text": "PTL", "start": 98, "end": 101}], "disease": [{"text": "lymphoepithelioid lymphoma", "start": 124, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Using immunohistochemistry these proteins were mostly localized to myometrial and fibroid SMC.", "output": {"entities": {"gene": [{"text": "SMC", "start": 90, "end": 93}], "disease": [{"text": "fibroid", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We identified that several members of the CCN (Cyr61/connective tissue growth factor/nephroblastoma-overexpressed) family are up-regulated following Cx43 expression, including CCN3 (NOV).", "output": {"entities": {"gene": [{"text": "Cx43", "start": 149, "end": 153}], "disease": [{"text": "nephroblastoma", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "To see whether APOBEC3B is overexpressed in other common cancers at the protein level, we investigated APOBEC3 protein expression in 100 gastric, 103 colorectal and 107 prostate cancer tissues as well as in 10 breast cancers by immunohistochemistry using antibody that could detect APOBEC3B, APOBEC3F and APOBEC3D proteins.", "output": {"entities": {"gene": [{"text": "APOBEC3D", "start": 305, "end": 313}], "disease": [{"text": "cancers", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The sex-specific association of Met62Ile gene polymorphism in P-selectin glycoprotein ligand (PSGL-1) with carotid plaque presence: preliminary study.", "output": {"entities": {"gene": [{"text": "PSGL-1", "start": 94, "end": 100}], "disease": [{"text": "plaque", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "To identify genes participating in axonal regeneration, we characterized mRNA expression profiles in dorsal root ganglia (DRG) before and after sciatic nerve transection.", "output": {"entities": {"gene": [{"text": "DRG", "start": 122, "end": 125}], "disease": [{"text": "axonal regeneration", "start": 35, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Well-differentiated liposarcomas (WDLPS) classically contain high-level amplification of 12q14-15 sequences, including the MDM2 and CDK4 genes, while lipomas are characterized by simple structural chromosome aberrations often involving HMGA2 at 12q15.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 123, "end": 127}], "disease": [{"text": "chromosome aberrations", "start": 197, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.", "output": {"entities": {"gene": [{"text": "Shank3", "start": 90, "end": 96}], "disease": [{"text": "manic", "start": 66, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Shank3", "start": 90, "end": 96}, "tail": {"text": "manic", "start": 66, "end": 71}}]}}, "schema": []}
{"input": "Odds ratios of albuminuria at entry and/or during follow-up for different APOE groups were not significantly different.", "output": {"entities": {"gene": [{"text": "APOE", "start": 74, "end": 78}], "disease": [{"text": "albuminuria", "start": 15, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "There was significant difference in the percentage of SSEA1 cells (SSEA1 +/Ki67 + cells) between inherited and sporadic HBs although the tumor proliferative index (Ki67 + cells/all cells) did not reach statistical significance between the two groups.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 75, "end": 79}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Given the considerable evidence that anxiety and depression are closely linked with abnormalities in sleep, the data presented here provide further evidence that neurotensin and Ntsr1 may be a component of a pathway involved in both sleep and mood disorders.", "output": {"entities": {"gene": [{"text": "neurotensin", "start": 162, "end": 173}], "disease": [{"text": "mood disorders", "start": 243, "end": 257}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurotensin", "start": 162, "end": 173}, "tail": {"text": "mood disorders", "start": 243, "end": 257}}]}}, "schema": []}
{"input": "Crk-Like (CRKL) is an adapter protein that has crucial roles in multiple biological processes, including cell proliferation, adhesion, and migration.", "output": {"entities": {"gene": [{"text": "CRKL", "start": 10, "end": 14}], "disease": [{"text": "adhesion", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Similarly, OCT2 (& #8764; 2-fold) and OCT3 (& #8764; 3-fold) showed increased protein expression in the kidneys of obese patients compared with those of nonobese individuals.", "output": {"entities": {"gene": [{"text": "OCT2", "start": 11, "end": 15}], "disease": [{"text": "obese", "start": 115, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OCT2", "start": 11, "end": 15}, "tail": {"text": "obese", "start": 115, "end": 120}}]}}, "schema": []}
{"input": "To understand the role of cyclin D1 expression in head and neck cancer, we overexpressed cyclin D1 in TU182 (a cell line derived from pharyngeal cancer) using a retroviral vector.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 26, "end": 35}], "disease": [{"text": "pharyngeal cancer", "start": 134, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The presence of LGALS3 SNPs in thyroid carcinoma cell lines (NPA, TPC-1, WRO, ARO), thyroid tissues of 55 patients with multinodular goiter or papillary carcinoma diagnosis and lymphocytes of peripheral blood of 45 healthy individuals was evaluated by sequencing and SSCP.", "output": {"entities": {"gene": [{"text": "ARO", "start": 78, "end": 81}], "disease": [{"text": "multinodular goiter", "start": 120, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The DBP + DEHP dose increased the incidence of many reproductive malformations by > or = 50%, including epididymal agenesis, and reduced androgen-dependent organ weights in cumulative, dose-additive manner.", "output": {"entities": {"gene": [{"text": "DBP", "start": 4, "end": 7}], "disease": [{"text": "malformations", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Genetic analysis identified a compound heterozygous mutation in the Na-Cl cotransporter gene (NCCT), confirming the diagnosis of GS.", "output": {"entities": {"gene": [{"text": "Na-Cl cotransporter", "start": 68, "end": 87}], "disease": [{"text": "GS", "start": 129, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Na-Cl cotransporter", "start": 68, "end": 87}, "tail": {"text": "GS", "start": 129, "end": 131}}]}}, "schema": []}
{"input": "NPY/Y₁ receptor-mediated vasoconstrictory and proliferative effects in pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "NPY", "start": 0, "end": 3}], "disease": [{"text": "pulmonary hypertension", "start": 71, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.", "output": {"entities": {"gene": [{"text": "hENT3", "start": 77, "end": 82}], "disease": [{"text": "H syndrome", "start": 4, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hENT3", "start": 77, "end": 82}, "tail": {"text": "H syndrome", "start": 4, "end": 14}}]}}, "schema": []}
{"input": "One patient with follicular small cleaved cell NHL that evolved to a small noncleaved cell NHL had coexisting bcl-2 and c-myc rearrangement in the aspiration specimen of the high-grade NHL, suggesting sequential bcl-2 and c-myc activation during the tumor' s progression.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 110, "end": 115}], "disease": [{"text": "aspiration", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "This translocation induces the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "EWS", "start": 31, "end": 34}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "' Increased expression of seprase, a membrane-type serine protease, is associated with lymph node metastasis in human colorectal cancer'.", "output": {"entities": {"gene": [{"text": "seprase", "start": 26, "end": 33}], "disease": [{"text": "lymph node metastasis", "start": 87, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "This study will evaluate the frequency of CFTR mutations and SPINK-1 polymorphisms in HIV-positive patients with clinical pancreatitis or asymptomatic elevation of serum pancreatic enzymes.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 42, "end": 46}], "disease": [{"text": "asymptomatic", "start": 138, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the expression pattern of MMP-2 and MMP-9 in blood from patients with BD during acute mania and after euthymia, in comparison with healthy controls.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 49, "end": 54}], "disease": [{"text": "BD", "start": 83, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 49, "end": 54}, "tail": {"text": "BD", "start": 83, "end": 85}}]}}, "schema": []}
{"input": "These findings indicate that there is a basal level of mis-splicing during LMNA expression that does not change with ageing in human muscle, but at levels that do not result in increased aberrant protein.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 75, "end": 79}], "disease": [{"text": "ageing", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "TAZ and YAP are transcriptional coactivators that can contribute to cancer by promoting proliferation, tumorigenesis, and cancer stem cell expansion.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest a novel mechanism that Kindlin-2 regulates breast cancer progression by inducing genome instability.", "output": {"entities": {"gene": [{"text": "Kindlin-2", "start": 40, "end": 49}], "disease": [{"text": "genome instability", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "For instance, cardiotrophin-1 is a cytokine member of the interleukin-6 superfamily, produced by cardiomyocytes and non-cardiomyocytes in situations of biomechanical stress that once secreted interacts with its receptor, the heterodimer formed by gp130 and gp90 (also known as leukemia inhibitory factor receptor beta), activating different signaling pathways leading to cardiomyocyte hypertrophy, as well as myocardial fibrosis.", "output": {"entities": {"gene": [{"text": "gp90", "start": 257, "end": 261}], "disease": [{"text": "myocardial fibrosis", "start": 409, "end": 428}]}, "relations": {}}, "schema": []}
{"input": "Citrate synthase is a novel in vivo matrix metalloproteinase-9 substrate that regulates mitochondrial function in the postmyocardial infarction left ventricle.", "output": {"entities": {"gene": [{"text": "Citrate synthase", "start": 0, "end": 16}], "disease": [{"text": "infarction", "start": 133, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We have also quantified the mRNA of six genes previously identified as markers of the biopsychological stress associated with major depression: FOS, DUSP1, OGG1, STMN1, p16 (INK4a) and TERT.", "output": {"entities": {"gene": [{"text": "INK4a", "start": 174, "end": 179}], "disease": [{"text": "major depression", "start": 126, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "INK4a", "start": 174, "end": 179}, "tail": {"text": "major depression", "start": 126, "end": 142}}]}}, "schema": []}
{"input": "These findings establish that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina.", "output": {"entities": {"gene": [{"text": "CACNA1F", "start": 60, "end": 67}], "disease": [{"text": "CSNB", "start": 85, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1F", "start": 60, "end": 67}, "tail": {"text": "CSNB", "start": 85, "end": 89}}]}}, "schema": []}
{"input": "Functional analysis revealed that increased calcium channel activity is a distinct property of both SPSMA-and CMT2C-causing mutant proteins.", "output": {"entities": {"gene": [{"text": "CMT2C", "start": 110, "end": 115}], "disease": [{"text": "SPSMA", "start": 100, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CMT2C", "start": 110, "end": 115}, "tail": {"text": "SPSMA", "start": 100, "end": 105}}]}}, "schema": []}
{"input": "Leptin receptor, beta2 adrenergic receptor and glucocorticoid receptor gene polymorphisms have been associated with an augmented clustering of metabolic abnormalities in response to overfeeding.", "output": {"entities": {"gene": [{"text": "Leptin receptor", "start": 0, "end": 15}], "disease": [{"text": "abnormalities", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that dbpA, a member of the Y box family of proteins, could accelerate the process of inflammation-induced hepatocarcinogenesis, and that dbpA is more abundantly expressed in hepatocellular carcinoma than in non-tumorous tissue.", "output": {"entities": {"gene": [{"text": "dbpA", "start": 26, "end": 30}], "disease": [{"text": "hepatocellular carcinoma", "start": 195, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "A previous study showed that BK5. EP1 transgenic mice produced more carcinomas than wild type (WT) mice using initiation/promotion protocols, although the tumor response was dependent on the type of tumor promoter used.", "output": {"entities": {"gene": [{"text": "EP1", "start": 34, "end": 37}], "disease": [{"text": "tumor", "start": 155, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "This deletion was linked with hepatic copper accumulation and hepatitis, and considered to be a primary mutation for hepatic disorder in the LEC rat.", "output": {"entities": {"gene": [{"text": "LEC", "start": 141, "end": 144}], "disease": [{"text": "hepatic disorder", "start": 117, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Analbuminemia in a Swiss family is caused by a C--& gt; T transition at nucleotide 4446 of the albumin gene.", "output": {"entities": {"gene": [{"text": "albumin", "start": 2, "end": 9}], "disease": [{"text": "Analbuminemia", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "albumin", "start": 2, "end": 9}, "tail": {"text": "Analbuminemia", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "Mutational analysis of two positional candidate susceptibility genes for bipolar disorder on chromosome 12q23-q24: phenylalanine hydroxylase and human LIM-homeobox LHX5.", "output": {"entities": {"gene": [{"text": "LHX5", "start": 164, "end": 168}], "disease": [{"text": "bipolar disorder", "start": 73, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LHX5", "start": 164, "end": 168}, "tail": {"text": "bipolar disorder", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "The HLA-A * 02 and-A * 03 were observed increased frequencies in patients less than 50% hair loss, and HLA-B * 27 equally in patients of 50-99% hair loss, alopecia totalis and alopecia universalis.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 4, "end": 9}], "disease": [{"text": "hair loss", "start": 88, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Here, we tested if the genetic NEDD4L variation previously associated with salt sensitivity is related to population blood pressure, incidence of cardiovascular disease (CVD) and mortality.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 31, "end": 37}], "disease": [{"text": "blood pressure", "start": 117, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "TGFβ-1 induced SMAD3 translocation to the nuclei in MDA-MB-231, MDA-MB-231 (hm) as well as in SMAD4 deficient MDA-MB-468, indicating that an alternate non-canonical pathway could be responsible for TGFβ-1 induced cytokine production in MDA-MB-468 cells.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 94, "end": 99}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein.", "output": {"entities": {"gene": [{"text": "PDE6D", "start": 195, "end": 200}], "disease": [{"text": "polydactyly", "start": 96, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE6D", "start": 195, "end": 200}, "tail": {"text": "polydactyly", "start": 96, "end": 107}}]}}, "schema": []}
{"input": "Both mutations lie in the cysteine-knot region of the protein LEFTY A, and the phenotype of affected individuals is very similar to that typically seen in Lefty1-/-mice with LR-axis malformations.", "output": {"entities": {"gene": [{"text": "Lefty1", "start": 155, "end": 161}], "disease": [{"text": "malformations", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Expression of elastin, decorin, lumican and the extracellular matrix remodeling factor TIMP3 were reduced in facioscapulohumeral muscular dystrophy myoblasts.", "output": {"entities": {"gene": [{"text": "elastin", "start": 14, "end": 21}], "disease": [{"text": "facioscapulohumeral muscular dystrophy", "start": 109, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "elastin", "start": 14, "end": 21}, "tail": {"text": "facioscapulohumeral muscular dystrophy", "start": 109, "end": 147}}]}}, "schema": []}
{"input": "Kaplan-Meier survival analysis and Cox proportional hazard regression were used to analyze the association between MAP3K1 rs889312 genotypes and survival outcomes of gastric cancer.", "output": {"entities": {"gene": [{"text": "MAP3K1", "start": 115, "end": 121}], "disease": [{"text": "regression", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "B-cell attracting chemokines may therefore have relevance in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNPs) Methods: Polyp and inferior turbinate tissues were obtained from CRSwNPs, CRS without NPs (CRSsNPs), and control patients; ELISA and reverse-transcription polymerase chain reaction were used to detect levels of protein and mRNA for selected B-cell chemokines (B-cell attracting chemokine 1 [CXCL13/BCA-1/BLC]), thymus expressed chemokine (CCL25/TECK), mucosae-associated epithelial chemokine (CCL28/MEC), stromal cell-derived factor-1alpha (CXCL12/SDF-1alpha), and selected chemokine receptor genes (CXCR4, CXCR5, and CXCR7).", "output": {"entities": {"gene": [{"text": "TECK", "start": 477, "end": 481}], "disease": [{"text": "chronic rhinosinusitis", "start": 81, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Seventy-two hours of dehydration induced a decrease in body weight and CRH mRNA levels in PVN of controls as well as of FR50 rats, but also led to a rise in plasma corticosterone and free corticosterone without changing CBG binding capacity.", "output": {"entities": {"gene": [{"text": "CRH", "start": 71, "end": 74}], "disease": [{"text": "dehydration", "start": 21, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In this study, we determined gene expression of both insulin-like growth factor (IGF)-I and bone Gla protein (BGP; osteocalcin) in calvaria in comparison with their serum levels in methimazole (MMI)-induced congenital hypothyroid (CHT) rats during the first 4 weeks of life.", "output": {"entities": {"gene": [{"text": "bone Gla protein", "start": 92, "end": 108}], "disease": [{"text": "hypothyroid", "start": 218, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "kappa-opioid receptor antagonists such as nor-Binaltorphimine (nor-BNI) have been shown to produce antidepressant-like behavioral effects in animal models of depression.", "output": {"entities": {"gene": [{"text": "kappa-opioid receptor", "start": 0, "end": 21}], "disease": [{"text": "depression", "start": 158, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "kappa-opioid receptor", "start": 0, "end": 21}, "tail": {"text": "depression", "start": 158, "end": 168}}]}}, "schema": []}
{"input": "XRCC1, XRCC3, and XPD polymorphisms as modifiers of the effect of smoking and alcohol on colorectal adenoma risk.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 0, "end": 5}], "disease": [{"text": "smoking", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "S100beta (glial) immunoreactivity was similar in the post-ischemic hippocampus of the GFAP (+/+) and GFAP (-/-), indicating that reactive astrocytosis did not require GFAP.", "output": {"entities": {"gene": [{"text": "S100beta", "start": 0, "end": 8}], "disease": [{"text": "astrocytosis", "start": 138, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, some of the histone demethylase enzymes, which have the Jumonji domain-containing family, require oxygen to function and are induced by hypoxia in an HIF-1-dependent manner.", "output": {"entities": {"gene": [{"text": "Jumonji", "start": 71, "end": 78}], "disease": [{"text": "hypoxia", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "HLA-A,-B,-C,-DR, and-DQ gene typing and HLA-DRB1,-DQB1, and-DPB1 allele typing were performed by the polymerase chain reaction sequence-specific primers method and the restriction fragment length polymorphism method, respectively, in 40 patients with autoimmune pancreatitis, 43 patients with chronic calcifying pancreatitis, and 201 healthy subjects.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 0, "end": 5}], "disease": [{"text": "autoimmune pancreatitis", "start": 251, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "There was no significant difference in the expression of CDK4, P27, and E2F-1 among histological grade of the chondrosarcoma (P > 0. 05).", "output": {"entities": {"gene": [{"text": "P27", "start": 63, "end": 66}], "disease": [{"text": "chondrosarcoma", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "A total of 170 Helicobacter pylori-positive patients with chronic gastritis were randomized to receive one of the following Helicobacter pylori eradication regimens; OAC (omeprazole 20 mg bd, amoxycillin 750 mg bd and clarithromycin 400 mg bd for 1 week) and RAC (rabeprazole 20 mg bd, amoxycillin 750 mg bd and clarithromycin 400 mg bd for 1 week).", "output": {"entities": {"gene": [{"text": "RAC", "start": 259, "end": 262}], "disease": [{"text": "chronic gastritis", "start": 58, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Frequency of chromosomal aberrations involving MALT1 in mucosa-associated lymphoid tissue lymphoma in patients with Sjögren' s syndrome.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 47, "end": 52}], "disease": [{"text": "chromosomal aberrations", "start": 13, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The demonstration of an allelic association between IL4 and immune response to mycobacterial antigen may provide a genetic explanation for the inverse association recently demonstrated between delayed hypersensitivity T helper 1 responses to mycobacterial antigen and atopic disorder in Japanese children.", "output": {"entities": {"gene": [{"text": "IL4", "start": 52, "end": 55}], "disease": [{"text": "delayed hypersensitivity", "start": 193, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Thirty-two Sprague-Dawley rats were randomly divided into sham, shunt, sham + PPG (D, L-propargylglycine, an inhibitor of cystathionine-gamma-lyase), and shunt + PPG groups.", "output": {"entities": {"gene": [{"text": "PPG", "start": 78, "end": 81}], "disease": [{"text": "shunt", "start": 64, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Our data reveal a significant down-regulation in the expression of ECM components such as collagens I, II, III, and IV, and the SLRPs, decorin, biglycan, lumican, and fibromodulin in stromal cells when grown in the presence of two metastatic prostate cancer cell lines PC3 and DU145.", "output": {"entities": {"gene": [{"text": "ECM", "start": 67, "end": 70}], "disease": [{"text": "metastatic prostate cancer", "start": 231, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "We have performed a molecular and mutation analysis of a total 19 unrelated MPS II patients of different ethnic origin and identified 19 different IDS mutations, 9 of which were novel and unique.", "output": {"entities": {"gene": [{"text": "IDS", "start": 147, "end": 150}], "disease": [{"text": "MPS II", "start": 76, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDS", "start": 147, "end": 150}, "tail": {"text": "MPS II", "start": 76, "end": 82}}]}}, "schema": []}
{"input": "Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.", "output": {"entities": {"gene": [{"text": "PIH1D3", "start": 13, "end": 19}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 35, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIH1D3", "start": 13, "end": 19}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 35, "end": 61}}]}}, "schema": []}
{"input": "The CC genotype of rs4633 (C/T) and the GG genotype of rs4680 (G/A) showed a significantly higher degree of PAI and the association remained positive after adjustment for age, hypertension, diabetes, smoking and drinking (p = 0. 035 and p = 0. 031, respectively).", "output": {"entities": {"gene": [{"text": "PAI", "start": 108, "end": 111}], "disease": [{"text": "smoking", "start": 200, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded.", "output": {"entities": {"gene": [{"text": "STXBP1", "start": 24, "end": 30}], "disease": [{"text": "Dravet syndrome", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STXBP1", "start": 24, "end": 30}, "tail": {"text": "Dravet syndrome", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "The mechanism of bone marrow failure (BMF) in paroxysmal nocturnal hemoglobinuria (PNH) is not yet known.", "output": {"entities": {"gene": [{"text": "BMF", "start": 38, "end": 41}], "disease": [{"text": "paroxysmal nocturnal hemoglobinuria", "start": 46, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "To determine whether these cells play a role in our E (+)-transgenic model, we first confirmed the existence of CD4 (+) CD25 (+) T cells regulating thyroiditis in E (+) B10. Ab (0) (A (-) E (+)) and B10 (A (+) E (-)) mice by i. v.", "output": {"entities": {"gene": [{"text": "CD4", "start": 112, "end": 115}], "disease": [{"text": "thyroiditis", "start": 148, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Eleven male Chinese WAS patients were enrolled, presenting as classic WAS phenotype, correlative to the expression level of WASP and the severity of infections.", "output": {"entities": {"gene": [{"text": "WASP", "start": 124, "end": 128}], "disease": [{"text": "infections", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an unidentified mutation on at least one chromosome was analyzed through denaturing gradient gel electrophoresis of the whole coding region of the cystic fibrosis transmembrane conductance regulator gene, including intron-exon boundaries.", "output": {"entities": {"gene": [{"text": "cystic fibrosis transmembrane conductance regulator", "start": 230, "end": 281}], "disease": [{"text": "cystic fibrosis", "start": 15, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cystic fibrosis transmembrane conductance regulator", "start": 230, "end": 281}, "tail": {"text": "cystic fibrosis", "start": 15, "end": 30}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization with PAC1173K1 identified the breakpoint on 11p15, indicating that the NUP98 gene was involved in the translocation.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 106, "end": 116}], "disease": [{"text": "translocation", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Here we report novel findings concerning developmental abnormalities resulting from prenatal exposure to DBP, which leads to significant anorectal malformations (ARMs) in male rat offspring.", "output": {"entities": {"gene": [{"text": "DBP", "start": 105, "end": 108}], "disease": [{"text": "abnormalities", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Genotyping of IL-13 gene polymorphisms was performed using polymerase chain reaction-based restriction fragment length polymorphism method. A statistically significant association of the A-1512C polymorphism in IL13 gene was observed with atopy (p & lt; 0. 001; χ2 = 19. 0).", "output": {"entities": {"gene": [{"text": "IL13 gene", "start": 211, "end": 220}], "disease": [{"text": "atopy", "start": 239, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 59, "end": 62}], "disease": [{"text": "infertile", "start": 35, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal.", "output": {"entities": {"gene": [{"text": "SLI", "start": 30, "end": 33}], "disease": [{"text": "neurodevelopmental disorder", "start": 40, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Recently, two chromosomal aberrations involving the MALT1 gene, i. e., t (11; 18) (q21; q21) and t (14; 18) (q32; q21) have been reported as genetic events specific for MALT lymphoma.", "output": {"entities": {"gene": [{"text": "MALT1 gene", "start": 52, "end": 62}], "disease": [{"text": "chromosomal aberrations", "start": 14, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the effect of epigenetic modification on the RhoE expression in gastric cancer cells was investigated.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 67, "end": 71}], "disease": [{"text": "gastric cancer", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: HER2 mutation was present in one male, non-smoking patient with low differentiated adenocarcinoma (0. 67% of all patients and 1. 5% of patients with adenocarcinoma).", "output": {"entities": {"gene": [{"text": "HER2", "start": 9, "end": 13}], "disease": [{"text": "smoking", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Moreover, athymic mice that lacked GPC1 exhibited decreased tumor angiogenesis and metastasis following intrapancreatic implantation with either PANC-1 or T3M4 human pancreatic cancer cells and fewer pulmonary metastases following intravenous injection of murine B16-F10 melanoma cells.", "output": {"entities": {"gene": [{"text": "F10", "start": 267, "end": 270}], "disease": [{"text": "tumor angiogenesis", "start": 60, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "HLA-DP and γ-interferon receptor-2 gene variants and their association with viral hepatitis activity in chronic hepatitis B infection.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 0, "end": 6}], "disease": [{"text": "viral hepatitis", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Postoperatively, skin pigmentation gradually developed with a marked elevation of plasma ACTH levels, and CT scanning uncovered a thymic mass.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 89, "end": 93}], "disease": [{"text": "skin pigmentation", "start": 17, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Multivariable COX regression models were developed to determine the joint association of NKX3. 1 genotypes with administration of vitamin E, selenium, or the combination, compared with placebo.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 89, "end": 96}], "disease": [{"text": "regression", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that overexpression of B7-H1 in HCC may be induced by inflammatory microenvironment involving macrophages and imply that anti-inflammation therapy might be preventive for immune escape and assistant for immunotherapy of HCC.", "output": {"entities": {"gene": [{"text": "B7-H1", "start": 45, "end": 50}], "disease": [{"text": "inflammation", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "These observations suggest focal segmental glomerulosclerosis as a phenotypic manifestation in patients with ZMPSTE24 deficiency.", "output": {"entities": {"gene": [{"text": "ZMPSTE24", "start": 109, "end": 117}], "disease": [{"text": "focal segmental glomerulosclerosis", "start": 27, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZMPSTE24", "start": 109, "end": 117}, "tail": {"text": "focal segmental glomerulosclerosis", "start": 27, "end": 61}}]}}, "schema": []}
{"input": "Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 35, "end": 41}], "disease": [{"text": "cardiac hypertrophy", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The lack of PXR results in a severe repression of the Na/Pi cotransporter NaPi-IIb/Npt2b (SLC34A2), thus leading Pxr-/-males and females to develop a type of hypophosphatemia.", "output": {"entities": {"gene": [{"text": "PXR", "start": 12, "end": 15}], "disease": [{"text": "hypophosphatemia", "start": 158, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PXR", "start": 12, "end": 15}, "tail": {"text": "hypophosphatemia", "start": 158, "end": 174}}]}}, "schema": []}
{"input": "To elucidate a possible role of BRCA2 and RB1 in sporadic breast tumorigenesis, allelic imbalance (AI) at 13q loci was examined in 78 primary sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 32, "end": 37}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that XRCC1 399 Gln/Gln genotype may contribute to the risk of ESCC and modify risk associated with smoking.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 27, "end": 32}], "disease": [{"text": "smoking", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Avarol induces apoptosis in pancreatic ductal adenocarcinoma cells by activating PERK-eIF2α-CHOP signaling.", "output": {"entities": {"gene": [{"text": "PERK", "start": 81, "end": 85}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 28, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Catalyzing a critical step in glutathione biosynthesis, GCLC may play a broad role in idiosyncratic drug reactions.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 56, "end": 60}], "disease": [{"text": "drug reactions", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The pro-angiogenic factor cysteine-rich protein 61 (CYR61/CCN1) mediates different signals in tumorigenesis, angiogenesis and is involved in the pathogenesis of endometriosis.", "output": {"entities": {"gene": [{"text": "CCN1", "start": 58, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "This work identifies GOT1 as a novel fusion partner of ETV6 in myelodysplastic syndrome.", "output": {"entities": {"gene": [{"text": "GOT1", "start": 21, "end": 25}], "disease": [{"text": "myelodysplastic syndrome", "start": 63, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Indirect calorimetry revealed decreases in energy expenditure (p < 0. 001) and increases in RER values (p < 0. 001), which were further exacerbated by high fat diet (45% kcals from fat) consumption indicating an impaired ability to utilize fatty acids in offspring of obese dams as analyzed by PRCF.", "output": {"entities": {"gene": [{"text": "RER", "start": 92, "end": 95}], "disease": [{"text": "obese", "start": 268, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "We estimated the frequency of constitutional mutations and polymorphisms in selected regions of MRE11, RAD50, and NBN in the group of 220 children diagnosed with childhood leukemias and controls (n = 504/2200).", "output": {"entities": {"gene": [{"text": "MRE11", "start": 96, "end": 101}], "disease": [{"text": "leukemias", "start": 172, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22. 13-p22. 2.", "output": {"entities": {"gene": [{"text": "p22", "start": 106, "end": 109}], "disease": [{"text": "keratosis follicularis spinulosa decalvans", "start": 47, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The 2-SNP CHGB promoter haplotypes had a profound (p = 3. 16E-20) effect on blood pressure (BP) in the European ancestry population, with a rank order of CT < AA < < CA < AT on both systolic blood pressure (SBP) and diastolic blood pressure (DBP), accounting for approximately 2. 3% to approximately 3. 4% of SBP/DBP variance; the haplotype effects on BP in vivo paralleled those on promoter activity in cella.", "output": {"entities": {"gene": [{"text": "DBP", "start": 242, "end": 245}], "disease": [{"text": "systolic blood pressure", "start": 182, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting consanguinity.", "output": {"entities": {"gene": [{"text": "cathepsin C", "start": 22, "end": 33}], "disease": [{"text": "PLS", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cathepsin C", "start": 22, "end": 33}, "tail": {"text": "PLS", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "Taken together, these results suggest that PREPL is a novel oligopeptidase, with unique structural and functional characteristics, involved in hypotonia-cystinuria syndrome.", "output": {"entities": {"gene": [{"text": "PREPL", "start": 43, "end": 48}], "disease": [{"text": "hypotonia-cystinuria syndrome", "start": 143, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PREPL", "start": 43, "end": 48}, "tail": {"text": "hypotonia-cystinuria syndrome", "start": 143, "end": 172}}]}}, "schema": []}
{"input": "GluR1 and GluR2 mRNAs were less abundant per neuron in CA4 and CA3 in schizophrenia than in controls.", "output": {"entities": {"gene": [{"text": "CA3", "start": 63, "end": 66}], "disease": [{"text": "schizophrenia", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "A sporadic RP carried a sequence variant of PDE6B gene, a G to C transition, at the 15th base adjacent to the 3'-end of exon l8.", "output": {"entities": {"gene": [{"text": "PDE6B gene", "start": 44, "end": 54}], "disease": [{"text": "sporadic", "start": 2, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "For the detection of possible association between smoking, NAT2 gene polymorphisms, and the risk of breast cancer, we designed a case-controlled study with 198 patients enrolled, 98 breast cancer patients and 100 healthy controls.", "output": {"entities": {"gene": [{"text": "NAT2 gene", "start": 59, "end": 68}], "disease": [{"text": "smoking", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Among all the autosomal recessive rare bleeding disorders, which include afibrinogenaemia, factor (F) II, FV, FV + VIII, FVII, FX, FXI, FXIII, the combined deficiency of coagulation FV and FVIII (F5F8D or FV + FVIII) is exceptional because it is due to mutations in genes encoding proteins involved in the FV and FVIII intracellular transport (LMAN1 and MCFD2) rather than DNA defects in the genes that encode the corresponding coagulation factors.", "output": {"entities": {"gene": [{"text": "MCFD2", "start": 354, "end": 359}], "disease": [{"text": "afibrinogenaemia", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "p63 and p73 expression in extrahepatic bile duct carcinoma and their clinical significance.", "output": {"entities": {"gene": [{"text": "p63", "start": 0, "end": 3}], "disease": [{"text": "extrahepatic bile duct carcinoma", "start": 26, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the association of WC and BMI with GGT levels varied by rs659366 genotype (Pinteraction = 0. 03 and 0. 007, respectively; adjusted for age, gender, high alcohol intake, diabetes, hypertension and serum lipid concentrations).", "output": {"entities": {"gene": [{"text": "GGT", "start": 48, "end": 51}], "disease": [{"text": "alcohol intake", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "We imaged VEGFR in an orthotopic mammary tumor model during the course of treatment with sunitinib using a recently developed SPECT tracer, a (99m) Tc-labeled single-chain VEGF (scVEGF), that binds to and is internalized by VEGFR.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 10, "end": 14}], "disease": [{"text": "mammary tumor", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Certain immunophenotypes (low CD11b, high HLA-Dr, CD34, CD13 and CD45), clonal granulocytes, multiple chromosomal abnormalities, chromosomal instability, short telomeres and high telomerase activity were also reported as PPF.", "output": {"entities": {"gene": [{"text": "CD45", "start": 65, "end": 69}], "disease": [{"text": "abnormalities, chromosomal", "start": 114, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "These data provide no evidence for an association between GBV-C and/or TTV infections and SSc and/or arthritis (RA and OA).", "output": {"entities": {"gene": [{"text": "TTV", "start": 71, "end": 74}], "disease": [{"text": "arthritis", "start": 101, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.", "output": {"entities": {"gene": [{"text": "USH3", "start": 58, "end": 62}], "disease": [{"text": "Usher syndrome type III", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USH3", "start": 58, "end": 62}, "tail": {"text": "Usher syndrome type III", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS).", "output": {"entities": {"gene": [{"text": "CD40L", "start": 41, "end": 46}], "disease": [{"text": "coronary artery calcification", "start": 72, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Physical and behavioral symptoms displayed by Ndufs4 (fky/fky) mice include temporary fur loss, growth retardation, unsteady gait, and abnormal body posture when suspended by the tail.", "output": {"entities": {"gene": [{"text": "Ndufs4", "start": 46, "end": 52}], "disease": [{"text": "growth retardation", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 94, "end": 99}], "disease": [{"text": "RTT", "start": 72, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 94, "end": 99}, "tail": {"text": "RTT", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 111, "end": 116}], "disease": [{"text": "Crouzon syndrome", "start": 37, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 111, "end": 116}, "tail": {"text": "Crouzon syndrome", "start": 37, "end": 53}}]}}, "schema": []}
{"input": "Modulation of these microRNAs resensitizes PTX-resistant cancer cells by targeting BCL10, caspase-7, and ZEB1.", "output": {"entities": {"gene": [{"text": "BCL10", "start": 83, "end": 88}], "disease": [{"text": "resistant cancer", "start": 47, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of these genes was significantly associated to a poor response to treatment (P =. 0001 and P =. 0049, respectively), tumor progression, and worse overall survival (P =. 0052 and P =. 0085, respectively), suggesting that MAPK7 and MAP2K4 could play an important role in osteosarcoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "MAP2K4", "start": 245, "end": 251}], "disease": [{"text": "tumor progression", "start": 132, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "This study aims to explore the associations of polymorphisms in inflammation-related genes (IL10, IL10RA, IL6R, TNFRSF1A, TNFRSF1B, LTA and IL4) and their interactions with the risk of colorectal cancer among Chinese population.", "output": {"entities": {"gene": [{"text": "IL4", "start": 140, "end": 143}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Depletion of CD8, but not CD4 T cells reduced anti-tumor immunity, indicating CTL as the effector cells.", "output": {"entities": {"gene": [{"text": "CD8", "start": 13, "end": 16}], "disease": [{"text": "tumor immunity", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Altered Ca2 + homeostasis in skeletal muscle is a key molecular event triggering malignant hyperthermia (MH) in malignant hyperthermia-susceptible (MHS) individuals.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 8, "end": 11}], "disease": [{"text": "malignant hyperthermia", "start": 81, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report the analysis of the mutational status of the EXT2 gene in tumor samples derived from a patient affected by hereditary MO, documenting the somatic loss of the germline mutation in a giant chondrosarcoma and in a rapidly growing osteochondroma.", "output": {"entities": {"gene": [{"text": "EXT2 gene", "start": 70, "end": 79}], "disease": [{"text": "giant", "start": 206, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "X-linked Emery-Dreifuss muscular dystrophy is caused by loss of emerin, a LEM-domain protein of the nuclear inner membrane.", "output": {"entities": {"gene": [{"text": "emerin", "start": 64, "end": 70}], "disease": [{"text": "X-linked Emery-Dreifuss muscular dystrophy", "start": 0, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "emerin", "start": 64, "end": 70}, "tail": {"text": "X-linked Emery-Dreifuss muscular dystrophy", "start": 0, "end": 42}}]}}, "schema": []}
{"input": "These results add support for a role of SAT1 in conferring a risk for suicide completion, in particular in the context of depressive disorders.", "output": {"entities": {"gene": [{"text": "SAT1", "start": 40, "end": 44}], "disease": [{"text": "depressive disorders", "start": 122, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAT1", "start": 40, "end": 44}, "tail": {"text": "depressive disorders", "start": 122, "end": 142}}]}}, "schema": []}
{"input": "This study has implications for genetic counseling of carriers of this PRKAR1A mutation and patients with CNC and PPNAD and for the study of PRKAR1A-related tumorigenesis.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 71, "end": 78}], "disease": [{"text": "tumorigenesis", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In other systems, such binding is mediated by the interaction of adhesion molecules such as intracellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-(VCAM-1) and E-selectin (on ECs), and leukocyte function-associated antigen-1 (LFA-1) and very late activated antigen-4 (VLA-4) (on Leukocytes).", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 247, "end": 252}], "disease": [{"text": "adhesion", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.", "output": {"entities": {"gene": [{"text": "CR2", "start": 149, "end": 152}], "disease": [{"text": "hypertrophic cardiomyopathy", "start": 172, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The experimental models included: the murine systemic Listeria monocytogenes infection model, the Pseudomonas aeruginosa bacteremia model in neutropenic rats, and the cecal ligation and puncture (CLP)-induced peritonitis model in rats.", "output": {"entities": {"gene": [{"text": "CLP", "start": 196, "end": 199}], "disease": [{"text": "peritonitis", "start": 209, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "These characteristics identify SOX2 as a lineage-survival oncogene in lung and esophageal SCC.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 31, "end": 35}], "disease": [{"text": "esophageal SCC", "start": 79, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOX2", "start": 31, "end": 35}, "tail": {"text": "esophageal SCC", "start": 79, "end": 93}}]}}, "schema": []}
{"input": "Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 179, "end": 185}], "disease": [{"text": "OI type-III", "start": 41, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A1", "start": 179, "end": 185}, "tail": {"text": "OI type-III", "start": 41, "end": 52}}]}}, "schema": []}
{"input": "However, the roles of other genes, such as CSF3 (colony stimulating factor 3 receptor), CD40, TNFSF14 (tumor necrosis factor receptor superfamily, member 14), IFNB1 (interferon-β1), TIRAP (toll-interleukin 1 receptor domain containing adaptor protein), IL2RA (interleukin 2 receptor α), ETS1 (v-ets avian erythroblastosis virus E26 oncogene homolog 1), GADD45B (growth arrest and DNA-damage-inducible 45 β), BIRC3 (baculoviral IAP repeat containing 3), VAV1 (vav 1 guanine nucleotide exchange factor), COL5A1 (collagen, type V, α1), and C3 (complement component 3), have not been investigated thoroughly in the process of periodontitis.", "output": {"entities": {"gene": [{"text": "TIRAP", "start": 182, "end": 187}], "disease": [{"text": "periodontitis", "start": 622, "end": 635}]}, "relations": {}}, "schema": []}
{"input": "To further delineate the impacts of FcγRIIIA and TLR9 in SMA pathogenesis, the associations between FcγRIIIA-176F/V and TLR9-1237T/C variants, SMA (hemoglobin [Hb] < 6. 0 g/dl), and circulating IFN-γ levels were investigated in children (n = 301) from western Kenya with acute malaria.", "output": {"entities": {"gene": [{"text": "TLR9", "start": 49, "end": 53}], "disease": [{"text": "hemoglobin", "start": 148, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Thus the clinical features of HHM are very similar to those of primary hyperparathyroidism (1 degree HPT), a prototype of humoral hypercalcemia caused by PTH.", "output": {"entities": {"gene": [{"text": "HHM", "start": 30, "end": 33}], "disease": [{"text": "primary hyperparathyroidism", "start": 63, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "pneumonitis", "start": 235, "end": 246}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "pneumonitis", "start": 235, "end": 246}}]}}, "schema": []}
{"input": "Patients with proliferative lupus nephritis had significantly lower urinary IL-22 mRNA levels than those with nonproliferative nephritis (2. 2 ± 5. 4 vs 8. 6 ± 20. 0 copies, p = 0. 019), and urinary IL-22 mRNA level inversely correlated with the histological activity index (r =-0. 427, p < 0. 0001).", "output": {"entities": {"gene": [{"text": "IL-22", "start": 76, "end": 81}], "disease": [{"text": "lupus nephritis", "start": 28, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "However another relevant issue is that, apart from genetic influence in liver transporters influencing drug levels, the complexity of mechanisms involved in the muscular side effects of statins has been addressed by the evidence of other influencing pathways such as the variant within the COQ2 gene involved in Coenzyme Q (10) mild-asymptomatic deficiency and skeletal muscle drug transporters expression.", "output": {"entities": {"gene": [{"text": "COQ2 gene", "start": 290, "end": 299}], "disease": [{"text": "asymptomatic", "start": 333, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "Using PCR amplification followed by immobilization onto magnetic beads and direct sequencing, we sequenced exons 5-9 of the p53 gene from 9 melanomas, 8 nasopharyngeal carcinomas, 16 sporadic breast carcinomas and 11 patients from familial breast cancer families.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 124, "end": 132}], "disease": [{"text": "sporadic", "start": 183, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the transcriptional profile of cell lines treated with a mitogen-activated protein (MAP)/extracellular signal-regulated (ERK) kinase (MEK) inhibitor to identify gene targets of activated GNAQ and to evaluate the biologic importance of these genes in uveal melanoma.", "output": {"entities": {"gene": [{"text": "ERK", "start": 133, "end": 136}], "disease": [{"text": "uveal melanoma", "start": 262, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, viral-mediated HDAC5 overexpression in the hippocampus blocked imipramine' s ability to reverse depression-like behavior.", "output": {"entities": {"gene": [{"text": "HDAC5", "start": 28, "end": 33}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC5", "start": 28, "end": 33}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "In the vascular system, Cav3. 2 activation leads to dilation of blood vessels, whereas Cav3. 1 channels are mainly suggested to affect constriction.", "output": {"entities": {"gene": [{"text": "Cav3. 2", "start": 24, "end": 31}], "disease": [{"text": "constriction", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Hyperalgesia during opioid abstinence: mediation by glutamate and substance p.", "output": {"entities": {"gene": [{"text": "substance p", "start": 66, "end": 77}], "disease": [{"text": "Hyperalgesia", "start": 0, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance p", "start": 66, "end": 77}, "tail": {"text": "Hyperalgesia", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "Sporadic fundic gland polyps: common gastric polyps arising through activating mutations in the beta-catenin gene.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 96, "end": 108}], "disease": [{"text": "gastric polyps", "start": 37, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Missense mutation in a von Willebrand factor type A domain of the alpha 3 (VI) collagen gene (COL6A3) in a family with Bethlem myopathy.", "output": {"entities": {"gene": [{"text": "COL6A3", "start": 94, "end": 100}], "disease": [{"text": "Bethlem myopathy", "start": 119, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL6A3", "start": 94, "end": 100}, "tail": {"text": "Bethlem myopathy", "start": 119, "end": 135}}]}}, "schema": []}
{"input": "CD74, MIF and TLR4 expression in the paraffin-embedded sections of gastric cancer from 120 patients were detected by immunohistochemical staining.", "output": {"entities": {"gene": [{"text": "MIF", "start": 6, "end": 9}], "disease": [{"text": "gastric cancer", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Elevated AhR and CYP1B1 but not CYP1A1 before tumor formation in a rat model of mammary tumorigenesis suggested differential CYP1B1 regulation by a constitutively active AhR.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 17, "end": 23}], "disease": [{"text": "mammary tumorigenesis", "start": 80, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Globoid cell leukodystrophy (GLD) or Krabbe disease is an autosomal recessively inherited neurological disease caused by mutations in the gene coding for the lysosomal enzyme galacto-cerebrosidase (GALC).", "output": {"entities": {"gene": [{"text": "GALC", "start": 198, "end": 202}], "disease": [{"text": "neurological disease", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The EWS-WT1 translocation product induces PDGFA in desmoplastic small round-cell tumour.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Serum SPARC concentration is significantly correlated with obesity indices and might be influenced by insulin resistance.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 6, "end": 11}], "disease": [{"text": "insulin resistance", "start": 102, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "p53, a tumor suppressor gene, is frequently mutated in sporadic human cancer, and inherited mutations in p53 predispose to the early onset of cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "NAT2 slow acetylator genotype is associated with increased risk of lung cancer among non-smoking Chinese women in Singapore.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "This is in contrast to the higher frequencies and worldwide distribution of parkin-and PINK1-related parkinsonism in ARP and sporadic parkinsonism.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 87, "end": 92}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We found stronger associations between several smoking variables and alcohol intake and lung cancer risk among GPX1 (TT) carriers than among GPX1 (CC) and GPX1 (CT) carriers.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 111, "end": 115}], "disease": [{"text": "alcohol intake", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "These patients have notoriously dissimilar metabolic abnormalities that correlate with differential levels of circulating leptin and soluble leptin receptor fraction.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 141, "end": 156}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Our group has previously shown that RhoE as a direct target for HIF-1α and mediates hypoxia-induced epithelial to mesenchymal transition in gastric cancer cells.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 36, "end": 40}], "disease": [{"text": "gastric cancer", "start": 140, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Further, amplifications on chromosomes 20 and 22 seen in one patient sample suggest a novel translocation type between EWSR1 and an unidentified fusion partner at 20q.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 119, "end": 124}], "disease": [{"text": "translocation", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "These results confirm that mutations of PINK1 cause abnormal mitochondrial morphology, bioenergetic function and oxidative metabolism in human tissues but suggest that the biochemical consequences may vary between mutations.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 40, "end": 45}], "disease": [{"text": "abnormal mitochondrial morphology", "start": 52, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We integrated the RNA-Seq results with DNA-binding sites of BRD4 generated by chromatin immunoprecipitations, correlated these with gene expressions from human prostate cancers and identified 21 top BRD4 candidate genes among which the oxidative stress pathway genes KEAP1, SESN3 and HDAC6 are represented.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 284, "end": 289}], "disease": [{"text": "prostate cancers", "start": 160, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC6", "start": 284, "end": 289}, "tail": {"text": "prostate cancers", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.", "output": {"entities": {"gene": [{"text": "matrix Gla protein", "start": 41, "end": 59}], "disease": [{"text": "Keutel syndrome", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "matrix Gla protein", "start": 41, "end": 59}, "tail": {"text": "Keutel syndrome", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "To overcome these inconsistencies, we studied the mRNA expression of ApoE and LRP in the postmortem brain of persons who died at different stages of dementia and AD-associated neuropathology relative to controls by quantitative polymerase chain reaction (qPCR) and Western blotting analyses.", "output": {"entities": {"gene": [{"text": "LRP", "start": 78, "end": 81}], "disease": [{"text": "dementia", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, CDKL2 enhanced primary tumor formation and metastasis in a breast cancer xenograft model.", "output": {"entities": {"gene": [{"text": "CDKL2", "start": 13, "end": 18}], "disease": [{"text": "metastasis", "start": 56, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDKL2", "start": 13, "end": 18}, "tail": {"text": "metastasis", "start": 56, "end": 66}}]}}, "schema": []}
{"input": "We genotyped 3 tagging SNPs of CD24-P-534 in the promoter region, P170 in the coding region of exon 2 and P1527 in the 3' untranslated region-using polymerase chain reaction-restriction fragment length polymorphism in specimens from 679 histologically-confirmed GC cases, 111 gastric atrophy (GA) cases and 976 tumor-free controls.", "output": {"entities": {"gene": [{"text": "CD24", "start": 31, "end": 35}], "disease": [{"text": "gastric atrophy", "start": 276, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, expression of IDO at the margin of ulcerations and in the reparative ulcer-associated cell lineage suggests involvement of IDO in repair processes.", "output": {"entities": {"gene": [{"text": "IDO", "start": 27, "end": 30}], "disease": [{"text": "ulcer", "start": 48, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.", "output": {"entities": {"gene": [{"text": "lamin A/C gene", "start": 69, "end": 83}], "disease": [{"text": "myocardial fibrosis", "start": 7, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The therapeutic application of TLR9 has been explored extensively in recent years, and many studies are being conducted to assess the safety and efficacy of TLR9 agonists in various diseases, including atopic and infectious diseases, and cancer.", "output": {"entities": {"gene": [{"text": "TLR9", "start": 31, "end": 35}], "disease": [{"text": "atopic", "start": 202, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "and p53 in UC and sporadic colon cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Low expression of LOC285194 was associated with larger tumor size (p = 0. 002), advanced TNM stage (p = 0. 018), more lymph node metastases (p = 0. 013) and distant metastases (p = 0. 015).", "output": {"entities": {"gene": [{"text": "LOC285194", "start": 18, "end": 27}], "disease": [{"text": "lymph node metastases", "start": 118, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that the NRF2 pathway is differentially responsive to CDDO-Me activation in peripheral blood cells from patients with septic shock and results in increased O2 production.", "output": {"entities": {"gene": [{"text": "NRF2", "start": 28, "end": 32}], "disease": [{"text": "septic shock", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Differentiated embryonic chondrocyte gene (DEC) 1 (BHLHE40/Stra13/Sharp2) and DEC2 (BHLHE41/Sharp1) are basic helix-loop-helix (bHLH) transcription factors that are associated with the regulation of apoptosis, cell proliferation and circadian rhythms, as well as malignancy in various cancers.", "output": {"entities": {"gene": [{"text": "Sharp1", "start": 92, "end": 98}], "disease": [{"text": "circadian rhythms", "start": 233, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "On the basis of these results, we conclude that GADD45b may be increased in psychosis compensatory to its inability to access gene promoter regions.", "output": {"entities": {"gene": [{"text": "GADD45b", "start": 48, "end": 55}], "disease": [{"text": "psychosis", "start": 76, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GADD45b", "start": 48, "end": 55}, "tail": {"text": "psychosis", "start": 76, "end": 85}}]}}, "schema": []}
{"input": "Erlotinib induced mutated in multiple advanced cancers 1/phosphatase and tensin homologue (MMAC1/PTEN) and suppressed phosphorylated Akt (Ser (473)) but not in the erlotinib-resistant cells.", "output": {"entities": {"gene": [{"text": "tensin", "start": 73, "end": 79}], "disease": [{"text": "cancers", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Our findings show the difficulty in distinguishing CMTX patients from CMT1 and CMT2 patients, and they emphasize the need for Cx32 mutation screening in families previously diagnosed with CMT2.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 126, "end": 130}], "disease": [{"text": "CMTX", "start": 51, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cx32", "start": 126, "end": 130}, "tail": {"text": "CMTX", "start": 51, "end": 55}}]}}, "schema": []}
{"input": "We performed in situ hybridization to assess hippocampal expression of the transcripts encoding NMDA receptor subunits NR1, 2A, 2B, 2C and 2D, and the transcripts for the NMDA receptor associated PSD proteins PSD95, PSD93, NF-L, and SAP102 in subjects with schizophrenia, bipolar affective disorder I, and a comparison group.", "output": {"entities": {"gene": [{"text": "NF-L", "start": 223, "end": 227}], "disease": [{"text": "bipolar affective disorder", "start": 272, "end": 298}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF-L", "start": 223, "end": 227}, "tail": {"text": "bipolar affective disorder", "start": 272, "end": 298}}]}}, "schema": []}
{"input": "We evaluated transcript levels of myocardin, GATA4 and Nkx2. 5 in peripheral blood mononuclear cells (PBMCs) in patients with stable coronary artery disease (CAD) and we examined the relationship between these levels and the severity of the disease, estimated by the number of stenotic vessels involved.", "output": {"entities": {"gene": [{"text": "Nkx2. 5", "start": 55, "end": 62}], "disease": [{"text": "coronary artery disease", "start": 133, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "XTC. UC1 showed autophagic responses to starvation and rapamycin treatment, whereas they displayed ineffective activation of mitophagy, which is triggered by the coordinated action of PINK1 and Parkin in response to CCCP.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 184, "end": 189}], "disease": [{"text": "starvation", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA (A) gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter-141DeltaC polymorphism.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 39, "end": 44}], "disease": [{"text": "inhalation", "start": 227, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Ocular wounding prevents pre-retinal neovascularization and upregulates PEDF expression in the inner retina.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 72, "end": 76}], "disease": [{"text": "retinal neovascularization", "start": 29, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "By detailed phenotypic analysis of our patients, and by critical literature review, we found that homozygous TRAPPC9 loss-of-function mutations cause a distinctive phenotype, characterized by peculiar facial appearance, obesity, hypotonia (all signs resembling a Prader-Willi-like phenotype), moderate-to-severe ID, and consistent brain abnormalities.", "output": {"entities": {"gene": [{"text": "TRAPPC9", "start": 109, "end": 116}], "disease": [{"text": "facial appearance", "start": 201, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Major depression in females with the FMR1 premutation may not be characterized as an episodically chronic recurrent disorder as it is in community samples and may have a genetic basis given the relationship with CGG repeat length and lack of association with all child and most demographic factors.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 37, "end": 41}], "disease": [{"text": "Major depression", "start": 0, "end": 16}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FMR1", "start": 37, "end": 41}, "tail": {"text": "Major depression", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "These results suggest that NOTCH1 mutations cause an early developmental defect in the aortic valve and a later de-repression of calcium deposition that causes progressive aortic valve disease.", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 27, "end": 33}], "disease": [{"text": "aortic valve disease", "start": 172, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOTCH1", "start": 27, "end": 33}, "tail": {"text": "aortic valve disease", "start": 172, "end": 192}}]}}, "schema": []}
{"input": "Similarly, neurons with a NEDD4-1 haplotype are more resistant to apoptosis, largely due to expression of higher levels of IGF-1Rβ. Together, our work identifies a novel molecular mechanism for ROS-upregulated NEDD4-1 and the subsequently reduced IGF-1Rβ signaling in neurodegeneration.", "output": {"entities": {"gene": [{"text": "NEDD4-1", "start": 26, "end": 33}], "disease": [{"text": "neurodegeneration", "start": 268, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "ApoA-I also stimulates secretion of apolipoprotein E (apoE) from macrophage foam cells, although the mechanism of this process is not understood.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 36, "end": 52}], "disease": [{"text": "foam cells", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Thus, susceptibility to virus infection can be determined by the cell' s ability to respond to autocrine IFN through the Stat-mediated pathway of gene induction.", "output": {"entities": {"gene": [{"text": "cell' s", "start": 65, "end": 72}], "disease": [{"text": "virus infection", "start": 24, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We report here that the mutant-allele-specific amplification (MASA) method may be useful for detection of the K-ras mutations in cells obtained from the sputum of patients with lung cancer.", "output": {"entities": {"gene": [{"text": "MASA", "start": 62, "end": 66}], "disease": [{"text": "lung cancer", "start": 177, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Some of immediate early genes (IEGs) as egr1 (zif268) or arc (arg3. 1) are believed to play an important role in the process of epileptogenesis.", "output": {"entities": {"gene": [{"text": "zif268", "start": 46, "end": 52}], "disease": [{"text": "arc", "start": 57, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Enzyme-linked immunosorbent assay further showed that GSE could reduce the VEGF secretion from various cancer cell lines including MDA-MB231, HepG2, HL-60 (acute promyelocytic leukaemia) and eleven primary cultured leukaemia cells obtained from acute myelogenous leukaemia patients.", "output": {"entities": {"gene": [{"text": "GSE", "start": 54, "end": 57}], "disease": [{"text": "leukaemia", "start": 176, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Expression of PSCA, PIWIL1, and TBX2 in endometrial adenocarcinoma.", "output": {"entities": {"gene": [{"text": "PIWIL1", "start": 20, "end": 26}], "disease": [{"text": "endometrial adenocarcinoma", "start": 40, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Elevated levels of procoagulant proteins factor II, factor VIII, factor IX, factor XI and fibrinogen are associated with an increased risk of venous thrombosis.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 52, "end": 63}], "disease": [{"text": "fibrinogen", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We conclude that loss of STX3 function causes variant MVID.", "output": {"entities": {"gene": [{"text": "STX3", "start": 25, "end": 29}], "disease": [{"text": "MVID", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STX3", "start": 25, "end": 29}, "tail": {"text": "MVID", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot.", "output": {"entities": {"gene": [{"text": "ClC-3", "start": 103, "end": 108}], "disease": [{"text": "glioma", "start": 58, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ClC-3", "start": 103, "end": 108}, "tail": {"text": "glioma", "start": 58, "end": 64}}]}}, "schema": []}
{"input": "Monocyte chemoattractant protein (MCP)-1 is a chemokine that plays an important role in the recruitment of mononuclear cells into sites of inflammation.", "output": {"entities": {"gene": [{"text": "MCP", "start": 34, "end": 37}], "disease": [{"text": "inflammation", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that a beta-endorphin-containing pathway projecting from the arcuate nucleus to the ipsilateral dorsal vagal complex is involved in depressor cardiovascular regulation and in the facilitation of baroreflex bradycardia.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 23, "end": 37}], "disease": [{"text": "bradycardia", "start": 222, "end": 233}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-endorphin", "start": 23, "end": 37}, "tail": {"text": "bradycardia", "start": 222, "end": 233}}]}}, "schema": []}
{"input": "To further understand the biological effects of the alteration of THTR2 expression, we conducted a DNA microarray study of gene expression in THTR2-transfected breast cancer cells and found that, in addition to increased expression of THTR2 attributable to the transgene, three other genes were up-regulated > 2. 5-fold in the transfected cells: cytochrome P450 isoform CYP4B1, 15-hydroxyprostaglandin dehydrogenase (15-PGDH), and transcription factor CRIP1.", "output": {"entities": {"gene": [{"text": "CRIP1", "start": 452, "end": 457}], "disease": [{"text": "breast cancer", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "[Expression of Smad1 and Smad5 in the testis of infertile rats with kidney-yang deficiency].", "output": {"entities": {"gene": [{"text": "Smad5", "start": 25, "end": 30}], "disease": [{"text": "infertile", "start": 48, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "To characterize the activation status of the immune system in schizophrenia, we examined the pattern of gene expression in peripheral blood cells for three Th1 cytokines (interferon-gamma (IFN-gamma), tumor necrosis factor-alpha (TNF-alpha), interleukin-2 (IL-2)), and one Th2 cytokine (interleukin-10 (IL-10)).", "output": {"entities": {"gene": [{"text": "Th1", "start": 156, "end": 159}], "disease": [{"text": "schizophrenia", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "However, hepatic GSH, which is involved in the detoxification of chemical compounds, significantly decreased after i. p. morphine injection at 02: 00 but not at 14: 00 h. Overall, the results suggest that the analgesic effect of morphine is greater after dosing during the resting than during the activity phase of mice that have been induced with bradykinin-mediated pain.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 348, "end": 358}], "disease": [{"text": "pain", "start": 368, "end": 372}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 348, "end": 358}, "tail": {"text": "pain", "start": 368, "end": 372}}]}}, "schema": []}
{"input": "The LRP mRNA level was significantly greater in normal bladder tissue than in transitional cell carcinoma bladder tissue (P < 0. 01) and in superficial cancer than in invasive cancer (P = 0. 013).", "output": {"entities": {"gene": [{"text": "LRP", "start": 4, "end": 7}], "disease": [{"text": "invasive cancer", "start": 167, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype.", "output": {"entities": {"gene": [{"text": "MYH3", "start": 75, "end": 79}], "disease": [{"text": "FSS", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH3", "start": 75, "end": 79}, "tail": {"text": "FSS", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Associations between hOGG1 Ser326Cys polymorphism and increased body mass index and fasting glucose level in the Japanese general population.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 21, "end": 26}], "disease": [{"text": "body mass index", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In mice with chemical-induced CAC, oral administration of plant-type sphingolipids called sphingadienes increased colonic SPL levels and reduced S1P levels, STAT3 signaling, cytokine levels, and tumorigenesis, indicating that SPL prevents transformation and carcinogenesis.", "output": {"entities": {"gene": [{"text": "SPL", "start": 122, "end": 125}], "disease": [{"text": "carcinogenesis", "start": 258, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 30, "end": 36}], "disease": [{"text": "CS", "start": 50, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3CA", "start": 30, "end": 36}, "tail": {"text": "CS", "start": 50, "end": 52}}]}}, "schema": []}
{"input": "Qualitative methylation analysis of 24 candidate genes in cell lines revealed five methylated genes (BMP7, BMPER, CDH1, DUSP4 and LRP12), which were further subjected to quantitative methylation analysis in clinical samples from 59 lymphoma patients (BL, FL, DLBCL ABC and GCB; and primary mediastinal B-cell lymphoma, PMBL).", "output": {"entities": {"gene": [{"text": "DUSP4", "start": 120, "end": 125}], "disease": [{"text": "lymphoma", "start": 232, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "To further characterize the effects of XRCC1 gene polymorphisms and their possible interactions with environmental factors on individual levels of DNA damage, we investigated the XRCC1 genotypes of 222 healthy Japanese workers and analyzed data with respect to smoking, drinking habits, age, and health practice index (HPI).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 39, "end": 44}], "disease": [{"text": "smoking", "start": 261, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "As proteinuria is considered result of glomerular filtration barrier injury we investigated whether TTR deposition affects either glomerular basement membrane (GBM) or podocytes.", "output": {"entities": {"gene": [{"text": "TTR", "start": 100, "end": 103}], "disease": [{"text": "proteinuria", "start": 3, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "The present study thus suggests that the CYP2C19 polymorphism affects personality traits of Japanese females.", "output": {"entities": {"gene": [{"text": "CYP2C19", "start": 41, "end": 48}], "disease": [{"text": "personality traits", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "UCP1 and UCP2 showed no association with insulin sensitivity.", "output": {"entities": {"gene": [{"text": "UCP1", "start": 0, "end": 4}], "disease": [{"text": "insulin sensitivity", "start": 41, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, however, owing to a sporadic ectopic Cre recombinase expression in the skin and lung of these mice, Fgfr3 mutation caused papilloma and promoted lung tumorigenesis in cooperation with K-Ras and β-catenin activation, respectively.", "output": {"entities": {"gene": [{"text": "Fgfr3", "start": 115, "end": 120}], "disease": [{"text": "tumorigenesis", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Previous analyses of sarcomas have indicated the presence of at least two separate amplicons within this region, one located in 1q21 and one located near the apolipoprotein A-II (APOA2) gene in 1q23.", "output": {"entities": {"gene": [{"text": "APOA2", "start": 179, "end": 184}], "disease": [{"text": "sarcomas", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "CDH10", "start": 90, "end": 95}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH10", "start": 90, "end": 95}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "Bi-weekly self-ratings of the Center for Epidemiologic Studies Depression Scale from 12th to 13th gestational week onwards and term placental mRNAs of 11beta-hydroxysteroid dehydrogenase type 2 (HSD2B11), type 1 (HSD1B11), glucocorticoid (NR3C1), mineralocorticoid receptors (NR3C2) and serotonin transporter (SLC6A4) were obtained from 54 healthy mothers aged 32. 2 ± 5. 3 years with singleton pregnancies and without pregnancy complications.", "output": {"entities": {"gene": [{"text": "SLC6A4", "start": 310, "end": 316}], "disease": [{"text": "pregnancy complications", "start": 419, "end": 442}]}, "relations": {}}, "schema": []}
{"input": "Thus, infertility in Pax8 (-/-) mice seems to be due to a defect in development of the Müllerian duct rather than to hormonal imbalance, pointing to a direct morphogenic role for Pax8 in uterine development.", "output": {"entities": {"gene": [{"text": "Pax8", "start": 21, "end": 25}], "disease": [{"text": "infertility", "start": 6, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "CDH11", "start": 229, "end": 234}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH11", "start": 229, "end": 234}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "We evaluated BRCA1, BRCA2, and MLH1 protein expression in 115 sporadic primary ovarian carcinomas, of which 31 had paired recurrent neoplasms collected after chemotherapy.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 20, "end": 25}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Six different missense germline mutations were identified at cysteine residues 618, 630, and 634 of the cysteine-rich extracellular RET domain encoded by exons 10 and 11 in all patients with FMTC and MEN 2A.", "output": {"entities": {"gene": [{"text": "RET", "start": 132, "end": 135}], "disease": [{"text": "FMTC", "start": 191, "end": 195}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 132, "end": 135}, "tail": {"text": "FMTC", "start": 191, "end": 195}}]}}, "schema": []}
{"input": "They included 12 malignant fibrous histiocytomas (MFH), 3 malignant peripheral nerve sheath tumors (MPNST), 6 synovial sarcomas (SyS), 4 myxoid liposarcomas (MyLS), one angiosarcoma (AGS), one clear cell sarcoma (CCS), and 9 osteosarcomas (OS).", "output": {"entities": {"gene": [{"text": "CCS", "start": 213, "end": 216}], "disease": [{"text": "malignant peripheral nerve sheath tumors", "start": 58, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Using the humanized hCYP1A1_1A2 transgenic mouse (expressing the human CYP1A1 and CYP1A2 genes in the absence of mouse Cyp1a2 gene), the teratogenic effects of dioxin reverted to the wild-type phenotype.", "output": {"entities": {"gene": [{"text": "Cyp1a2 gene", "start": 119, "end": 130}], "disease": [{"text": "teratogenic effects", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Significant overexpression of GP73 at both protein and mRNA levels along with overexpression of GP73 protein is associated with aggressive behavior of HCC, but not overall patient survival.", "output": {"entities": {"gene": [{"text": "HCC", "start": 151, "end": 154}], "disease": [{"text": "aggressive behavior", "start": 128, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Mbd4 biallelic inactivation in mice provided conflicting results as to its role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Mbd4", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that a mutation in the Katnb1 gene in mice causes infertility because of OAT.", "output": {"entities": {"gene": [{"text": "OAT", "start": 94, "end": 97}], "disease": [{"text": "infertility", "start": 71, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In GCK patients, the median neonatal weight and age at the first evaluation were lower than those found in patients with HNF1A mutations.", "output": {"entities": {"gene": [{"text": "HNF1A", "start": 121, "end": 126}], "disease": [{"text": "weight", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Gene expression analysis revealed that CDK6 mRNA expression is higher than normal cerebellum in fifteen out of sixteen medulloblastoma patient samples.", "output": {"entities": {"gene": [{"text": "CDK6", "start": 39, "end": 43}], "disease": [{"text": "medulloblastoma", "start": 119, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDK6", "start": 39, "end": 43}, "tail": {"text": "medulloblastoma", "start": 119, "end": 134}}]}}, "schema": []}
{"input": "In turn, deletion of the caspase-3-encoding gene, Casp3, or elimination of the caspase cleavage site by site-directed mutagenesis rescued starvation-induced autophagy and pathogen clearance, respectively.", "output": {"entities": {"gene": [{"text": "Casp3", "start": 50, "end": 55}], "disease": [{"text": "starvation", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that MUC1 expression by gall bladder carcinoma may reflect histological dedifferentiation, increased proliferative activity, and invasiveness, while MUC2 expression is related to lower proliferative activity and reflects some differentiation towards goblet cells; and that MUC1 expression in gall bladder dysplasia reflects malignant transformation.", "output": {"entities": {"gene": [{"text": "MUC2", "start": 171, "end": 175}], "disease": [{"text": "dedifferentiation", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "IL-4 adenoviral gene therapy reduces inflammation, proinflammatory cytokines, vascularization, and bony destruction in rat adjuvant-induced arthritis.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 37, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "To analyze whether hypoxia induces uveal melanoma cells to express proinflammatory cytokines and whether tumor supernatant (TSN) affects monocyte migration and differentiation.", "output": {"entities": {"gene": [{"text": "TSN", "start": 124, "end": 127}], "disease": [{"text": "uveal melanoma", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Surface expression of very late antigen-4 [VLA-4] and LFA-1 was decreased and the production of the type 2 cytokines IL-5 and IL-13 was augmented by the presence of IL-4 during stimulation of CD8 + T cells from mild atopic asthmatics.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 126, "end": 131}], "disease": [{"text": "atopic", "start": 216, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Tetramer staining showed that (1) by direct staining of single sample and flow cytometric analyses, detection of tetramer-positive CD4 (+) T cells ranged from 0. 1% to 8. 8% (median 0. 67% in tetramer 1 and 0. 5% in tetramer 2), 0. 1 to 10. 7% (0. 74% and 0. 71%), 0. 02 to 2. 2% (0. 25% and 0. 25%), 0. 02 to 0. 48% (0. 2% and 0. 2%) and most at under 0-0. 2% (0. 2% and 0. 16%) in the initial pulmonary TB (PTB) patients' blood, pleural fluid (PLF) of initial tuberculous pleuritis patients, non-TB patients' blood, healthy donors' blood and umbilical cord blood, respectively; significantly higher levels of CD4 (+) T cells were detected in samples of TB patients than in three control donor groups; (2) by direct staining of time point TB samples and flow cytometric analyses, along with TB symptom amendment at day 60, tetramer-positive CD4 (+) T cells began to decrease, until after 90-120 days, reached and kept at a relatively low even normal level about at 0. 03-0. 3%; (3) by enrichment approach, at least 10-fold increased memory tetramer-positive CD4 (+) T cells were seen; (4) by in situ staining, tetramer-positive, IFN-γ-producing and/or TNF-α-producing CD4 (+) T cells in the lymph node and lung granuloma and cavernous tissues of TB patients could be determined.", "output": {"entities": {"gene": [{"text": "CD4", "start": 131, "end": 134}], "disease": [{"text": "tuberculous pleuritis", "start": 462, "end": 483}]}, "relations": {}}, "schema": []}
{"input": "This study explores the signaling transduction cascade of ERK and p38 MAPK on regulating MAPK phosphatase-1 (MKP-1) and protein phosphatase 2A catalytic subunit α (PP2Acα) expression in caffeine-treated human leukemia U937 cells.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 109, "end": 114}], "disease": [{"text": "caffeine", "start": 186, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Absence of Metallothionein 3 Expression in Breast Cancer is a Rare, But Favorable Marker of Outcome that is Under Epigenetic Control.", "output": {"entities": {"gene": [{"text": "Metallothionein 3", "start": 11, "end": 28}], "disease": [{"text": "Breast Cancer", "start": 43, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Metallothionein 3", "start": 11, "end": 28}, "tail": {"text": "Breast Cancer", "start": 43, "end": 56}}]}}, "schema": []}
{"input": "These results suggest that the Val----Ile change in the APP causes AD, regardless of ethnic background.", "output": {"entities": {"gene": [{"text": "APP", "start": 56, "end": 59}], "disease": [{"text": "AD", "start": 67, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APP", "start": 56, "end": 59}, "tail": {"text": "AD", "start": 67, "end": 69}}]}}, "schema": []}
{"input": "C-reactive protein (CRP) is a key molecule of the acute phase of inflammation that has been localized in the two characteristic lesions of AD brain, senile plaque and neurofibrillary tangles.", "output": {"entities": {"gene": [{"text": "CRP", "start": 20, "end": 23}], "disease": [{"text": "neurofibrillary tangles", "start": 167, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that low-level amplification of the HER-2/neu gene might be associated with pituitary carcinomas in which more aggressive behavior is seen.", "output": {"entities": {"gene": [{"text": "neu gene", "start": 63, "end": 71}], "disease": [{"text": "aggressive behavior", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "ASCs-VEGF and ASCs showed comparable post-treatment improvements in Doppler-assessed peak systolic velocity, blood pressure ratio, and resistance index.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 5, "end": 9}], "disease": [{"text": "blood pressure", "start": 109, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Pathway analysis of the differentially expressed proteins demonstrated strong associations with neurological disorders, muscular and skeletal disorders, and cardiovascular diseases in the cblC mutant cell lines.", "output": {"entities": {"gene": [{"text": "cblC", "start": 188, "end": 192}], "disease": [{"text": "neurological disorders", "start": 96, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46, XX male sex reversal.", "output": {"entities": {"gene": [{"text": "SOX3 gene", "start": 38, "end": 47}], "disease": [{"text": "sex reversal", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "For the detection of breast cancer, the use of RP11-445H22. 4 showed a remarkable improvement compared with the clinical serum carcinoembryonic antigen.", "output": {"entities": {"gene": [{"text": "RP11-445H22. 4", "start": 47, "end": 61}], "disease": [{"text": "breast cancer", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The purposes of this study were to examine the TNFR2 polymorphism in Japanese patients with SLE and to investigate its association with other autoimmune diseases accompanied by vasculitis, mixed connective tissue disease, Buerger' s disease, and Takayasu' s arteritis.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 47, "end": 52}], "disease": [{"text": "mixed connective tissue disease", "start": 189, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "In vitro study using cultured myofibroblasts derived from the infarct tissue revealed that G-CSF increased proliferating activity of those cells accompanying activation of Akt and signal transducer and activator of transcription 3, while accelerating Fas-mediated apoptosis with increasing Bax-to-Bcl-2 ratio.", "output": {"entities": {"gene": [{"text": "signal transducer and activator of transcription 3", "start": 180, "end": 230}], "disease": [{"text": "infarct", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "ALPS was identified in 9 unrelated children as manifested by moderate to massive splenomegaly and lymphadenopathy, hypergammaglobulinemia, autoimmunity, B-cell lymphocytosis, and the expansion of an unusual population of CD4-CD8-T cells that express the alpha/beta T-cell receptor (TCR).", "output": {"entities": {"gene": [{"text": "CD4", "start": 221, "end": 224}], "disease": [{"text": "hypergammaglobulinemia", "start": 115, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "RNA from MDA-MB-435 human breast cancer cells transduced with RARbeta2 or empty retroviral vector (LXSN) was analyzed using Agilent Human 1A Oligo microarrays.", "output": {"entities": {"gene": [{"text": "RARbeta2", "start": 62, "end": 70}], "disease": [{"text": "breast cancer", "start": 26, "end": 39}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "RARbeta2", "start": 62, "end": 70}, "tail": {"text": "breast cancer", "start": 26, "end": 39}}]}}, "schema": []}
{"input": "The finding of 2 asymptomatic patients with FKRP mutations suggests that modulating factors may ameliorate the clinical phenotype.", "output": {"entities": {"gene": [{"text": "FKRP", "start": 44, "end": 48}], "disease": [{"text": "asymptomatic", "start": 17, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "To examine whether the alteration in blood pressure and the defect in glycine handling were related, we measured systolic blood pressure in the XT2 (-/-) mice during dietary glycine supplementation.", "output": {"entities": {"gene": [{"text": "XT2", "start": 144, "end": 147}], "disease": [{"text": "systolic blood pressure", "start": 113, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of IQGAP1 using siRNA and inhibition of the actin cytoskeleton blocked scratch injury-induced H2O2 production, Nox2 translocation and its interaction with actin, and EC migration toward the injured site.", "output": {"entities": {"gene": [{"text": "Nox2", "start": 121, "end": 125}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Genes that are connected to adhesion and inflammation: E-selectin, ICAM-1 integrins, glycoprotein IIb, IL-2, IL-4, IL-1b, and transforming growth factor-beta (TGF-beta).", "output": {"entities": {"gene": [{"text": "IL-2", "start": 103, "end": 107}], "disease": [{"text": "inflammation", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We evaluated changes of the gut microbiota and epigenetic DNA methylation of TLR2 and TLR4 in three groups of subjects: type 2 diabetics under glucagon-like peptide-1 agonist therapy, obese individuals without established insulin resistance, and a lean control group.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 77, "end": 81}], "disease": [{"text": "insulin resistance", "start": 222, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal translocation t (6; 14) (p21. 1; q32. 3) has been reported as a rare but recurrent event not only in myeloma and plasma cell leukemia but also in diffuse large B-cell non-Hodgkin lymphoma (B-NHL) (diffuse large B-cell lymphoma [DLBCL]) and splenic lymphoma with villous lymphocytes (SLVL); however, the nature of the target gene (s) has not been determined.", "output": {"entities": {"gene": [{"text": "p21", "start": 37, "end": 40}], "disease": [{"text": "plasma cell leukemia", "start": 125, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The engineered CD4 (+) T cells and CD8 (+) T cells both exhibited specific cytotoxicity against CD19 (+) leukemia and lymphoma cell lines, as well as against CD19 transfectants, and produced high-levels of antigen-dependent Th1 (but not Th2) cytokines.", "output": {"entities": {"gene": [{"text": "CD4", "start": 15, "end": 18}], "disease": [{"text": "leukemia", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "However, both patients with fulminant hepatitis and both patients with chronic hepatitis had TTV DNA sequences.", "output": {"entities": {"gene": [{"text": "TTV", "start": 93, "end": 96}], "disease": [{"text": "chronic hepatitis", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Hemostatic abnormalities including TAFI alterations represent a link between obesity and vascular thrombosis.", "output": {"entities": {"gene": [{"text": "TAFI", "start": 35, "end": 39}], "disease": [{"text": "obesity", "start": 77, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TAFI", "start": 35, "end": 39}, "tail": {"text": "obesity", "start": 77, "end": 84}}]}}, "schema": []}
{"input": "Thus, KIT and PDGFRA mutations appear to be alternative and mutually exclusive oncogenic mechanisms in GISTs.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 14, "end": 20}], "disease": [{"text": "GIST", "start": 103, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 14, "end": 20}, "tail": {"text": "GIST", "start": 103, "end": 107}}]}}, "schema": []}
{"input": "Impaired Ca2 + signaling in prostate cancer contributes to several cancer hallmarks, such as enhanced proliferation and migration and a decreased ability to induce apoptosis.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 9, "end": 12}], "disease": [{"text": "prostate cancer", "start": 28, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4.", "output": {"entities": {"gene": [{"text": "SF3B4", "start": 92, "end": 97}], "disease": [{"text": "Nager syndrome", "start": 41, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SF3B4", "start": 92, "end": 97}, "tail": {"text": "Nager syndrome", "start": 41, "end": 55}}]}}, "schema": []}
{"input": "Protein interactions of phosphatase and tensin homologue (PTEN) and its cancer-associated G20E mutant compared by using stable isotope labeling by amino acids in cell culture-based parallel affinity purification.", "output": {"entities": {"gene": [{"text": "tensin", "start": 40, "end": 46}], "disease": [{"text": "cancer", "start": 72, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In addition, we found that adenovirus over-expression of pre-miR-143 reduced tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "miR-143", "start": 61, "end": 68}], "disease": [{"text": "tumorigenesis", "start": 77, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-143", "start": 61, "end": 68}, "tail": {"text": "tumorigenesis", "start": 77, "end": 90}}]}}, "schema": []}
{"input": "Changes in the Ki67 expression and HMGCR activity following statin treatment were the primary and secondary endpoints, respectively.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 35, "end": 40}], "disease": [{"text": "secondary", "start": 98, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We aimed to clarify the effect of HSP70-2 polymorphism on the risk of peptic ulcer diseases in a Japanese population.", "output": {"entities": {"gene": [{"text": "HSP70-2", "start": 34, "end": 41}], "disease": [{"text": "peptic ulcer", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We conclude BOFS is caused by mutations involving TFAP2A.", "output": {"entities": {"gene": [{"text": "TFAP2A", "start": 50, "end": 56}], "disease": [{"text": "BOFS", "start": 12, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TFAP2A", "start": 50, "end": 56}, "tail": {"text": "BOFS", "start": 12, "end": 16}}]}}, "schema": []}
{"input": "A key event that regulates Id2 activity during differentiation is translocation from the nucleus to the cytoplasm.", "output": {"entities": {"gene": [{"text": "Id2", "start": 27, "end": 30}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Adults with a personal history, family history, or both of cancer enrolled in the CGN through population-based cancer registries.", "output": {"entities": {"gene": [{"text": "CGN", "start": 82, "end": 85}], "disease": [{"text": "cancer", "start": 59, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Higher expression of PLA2G2A, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B endometriosis cells compared to HIESC control cells.", "output": {"entities": {"gene": [{"text": "PTGS2", "start": 30, "end": 35}], "disease": [{"text": "endometriosis", "start": 79, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTGS2", "start": 30, "end": 35}, "tail": {"text": "endometriosis", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "Using an imaging genetics approach, we studied differential effects of an intranasal OT application on neural processing of social stimuli in 55 healthy young men depending on their CD38 gene variant in a double-blind placebo-controlled crossover design.", "output": {"entities": {"gene": [{"text": "CD38 gene", "start": 182, "end": 191}], "disease": [{"text": "blind", "start": 212, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Studies that focused on mood disorder comorbid with somatic symptoms, suggested roles for the mitochondrial DNA (mtDNA) 3644 mutation and the POLG mutation.", "output": {"entities": {"gene": [{"text": "POLG", "start": 142, "end": 146}], "disease": [{"text": "mood disorder", "start": 24, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POLG", "start": 142, "end": 146}, "tail": {"text": "mood disorder", "start": 24, "end": 37}}]}}, "schema": []}
{"input": "Trichoblastoma (TB) and syringocystadenoma papilliferum (SCAP) are both rare adnexal skin lesions occurring either sporadically or as secondary neoplasms in sebaceous nevi.", "output": {"entities": {"gene": [{"text": "SCAP", "start": 57, "end": 61}], "disease": [{"text": "skin lesions", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.", "output": {"entities": {"gene": [{"text": "AIRE", "start": 46, "end": 50}], "disease": [{"text": "autoimmune polyendocrine syndrome type 1", "start": 63, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 46, "end": 50}, "tail": {"text": "autoimmune polyendocrine syndrome type 1", "start": 63, "end": 103}}]}}, "schema": []}
{"input": "It has been reported that renin suppression and aldosterone levels are lower and hypokalemia milder in patients with IHA than in patients with APA.", "output": {"entities": {"gene": [{"text": "APA", "start": 143, "end": 146}], "disease": [{"text": "hypokalemia", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The majority of human NFPA expressed KISS1R with lower rates of expression in other types of pituitary tumors.", "output": {"entities": {"gene": [{"text": "KISS1R", "start": 37, "end": 43}], "disease": [{"text": "pituitary tumors", "start": 93, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "TP, OPRT, and DPD mRNA expressions were detected using a real-time reverse transcriptional-polymerase chain reaction method or by immunohistochemistry, using surgical specimens obtained from 25 patients with pancreatic cancer.", "output": {"entities": {"gene": [{"text": "DPD", "start": 14, "end": 17}], "disease": [{"text": "pancreatic cancer", "start": 208, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPD", "start": 14, "end": 17}, "tail": {"text": "pancreatic cancer", "start": 208, "end": 225}}]}}, "schema": []}
{"input": "In 127 patients with sporadic colorectal carcinomas and a minimum of 5 years follow-up after curative surgery immunohistochemical detection of MLHI and MSH2 was analyzed semiquantitatively.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 152, "end": 156}], "disease": [{"text": "sporadic", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Wilms' tumor 1 silencing decreases the viability and chemoresistance of glioblastoma cells in vitro: a potential role for IGF-1R de-repression.", "output": {"entities": {"gene": [{"text": "Wilms' tumor 1", "start": 0, "end": 14}], "disease": [{"text": "glioblastoma", "start": 72, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Wilms' tumor 1", "start": 0, "end": 14}, "tail": {"text": "glioblastoma", "start": 72, "end": 84}}]}}, "schema": []}
{"input": "No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.", "output": {"entities": {"gene": [{"text": "N-ras", "start": 59, "end": 64}], "disease": [{"text": "cirrhosis", "start": 128, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "During the progression of Parkinson' s disease, Rho-associated protein kinase 2 (ROCK2) is activated to promote neurodegeneration.", "output": {"entities": {"gene": [{"text": "ROCK2", "start": 81, "end": 86}], "disease": [{"text": "neurodegeneration", "start": 112, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "miR-381, a novel intrinsic WEE1 inhibitor, sensitizes renal cancer cells to 5-FU by up-regulation of Cdc2 activities in 786-O.", "output": {"entities": {"gene": [{"text": "WEE1", "start": 27, "end": 31}], "disease": [{"text": "renal cancer", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Even older patients with atrophy in the posterior compartment of the distal lower extremities and a relatively high serum creatine kinase level should be examined for the dysferlin gene.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 171, "end": 180}], "disease": [{"text": "atrophy", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "ACTH is a safe and effective treatment for acute gout and pseudogout, especially in patients with multiple medical problems.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 0, "end": 4}], "disease": [{"text": "pseudogout", "start": 58, "end": 68}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 0, "end": 4}, "tail": {"text": "pseudogout", "start": 58, "end": 68}}]}}, "schema": []}
{"input": "We detected EZH2 and Ki-67 expression levels using immunohistochemical (IHC) studies in 20 normal cervical tissues, 50 cervical intraepithelial neoplasia (including 25 low-grade intraepithelial lesions and 25 high-grade intraepithelial lesions), and 101 cervical cancer tissues.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 12, "end": 16}], "disease": [{"text": "cervical intraepithelial neoplasia", "start": 119, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.", "output": {"entities": {"gene": [{"text": "PIGO", "start": 13, "end": 17}], "disease": [{"text": "hyperphosphatasia with mental retardation", "start": 71, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGO", "start": 13, "end": 17}, "tail": {"text": "hyperphosphatasia with mental retardation", "start": 71, "end": 112}}]}}, "schema": []}
{"input": "However, more studies are warranted to establish the role of CHOP variants in tumor/cancer predisposition and in overweight condition.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 61, "end": 65}], "disease": [{"text": "overweight", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Migraine-associated vertigo (MAV) is a migraine syndrome also much more common in females than males.", "output": {"entities": {"gene": [{"text": "MAV", "start": 29, "end": 32}], "disease": [{"text": "vertigo", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.", "output": {"entities": {"gene": [{"text": "SLC22A12", "start": 59, "end": 67}], "disease": [{"text": "renal hypouricemia", "start": 21, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC22A12", "start": 59, "end": 67}, "tail": {"text": "renal hypouricemia", "start": 21, "end": 39}}]}}, "schema": []}
{"input": "We also stratified the effects on estimated GFR in patients with (n = 2096) and without albuminuria (n = 613).", "output": {"entities": {"gene": [{"text": "GFR", "start": 44, "end": 47}], "disease": [{"text": "albuminuria", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The mean levels of SRC-1, SRC-2, and SRC-3 were each similar in normal myometrium compared to fibroids for SMC and also for MEC.", "output": {"entities": {"gene": [{"text": "SMC", "start": 107, "end": 110}], "disease": [{"text": "fibroids", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.", "output": {"entities": {"gene": [{"text": "FHL1", "start": 28, "end": 32}], "disease": [{"text": "reducing body myopathy", "start": 65, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FHL1", "start": 28, "end": 32}, "tail": {"text": "reducing body myopathy", "start": 65, "end": 87}}]}}, "schema": []}
{"input": "Single-agent oral CCT244747 antitumor activity was evaluated in a MYCN-driven transgenic mouse model of neuroblastoma by MRI and in genotoxic combinations in human tumor xenografts by growth delay.", "output": {"entities": {"gene": [{"text": "MRI", "start": 121, "end": 124}], "disease": [{"text": "neuroblastoma", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We detected the E318G mutation in four FAD cases, seven sporadic AD cases and 10 control individuals with highly varying onset-ages.", "output": {"entities": {"gene": [{"text": "FAD", "start": 39, "end": 42}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "These data imply that the expression of IL-17 cytokines and their receptor are elevated during myocardial I/R injury and may play a fundamental role in post infarct inflammatory and apoptotic responses.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 40, "end": 45}], "disease": [{"text": "infarct", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Although the WNK4 disease-causing mutants E562K, D564A, Q565E, and R1185C retained their ability to upregulate TRPV5, the blocking effect of NCC was further strengthened when wild-type WNK4 was replaced by the Q565E mutant, which causes FHH with hypercalciuria.", "output": {"entities": {"gene": [{"text": "NCC", "start": 141, "end": 144}], "disease": [{"text": "hypercalciuria", "start": 246, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Lack of the phosphatase PTPN22 increases adhesion of murine regulatory T cells to improve their immunosuppressive function.", "output": {"entities": {"gene": [{"text": "PTPN22", "start": 24, "end": 30}], "disease": [{"text": "adhesion", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Here, we examined the effect of capsaicin on SNU-1 and TMC-1 gastric cancer cells and found differing outcomes between the two cell lines.", "output": {"entities": {"gene": [{"text": "TMC", "start": 55, "end": 58}], "disease": [{"text": "gastric cancer", "start": 61, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.", "output": {"entities": {"gene": [{"text": "CCDC47", "start": 11, "end": 17}], "disease": [{"text": "Global Developmental Delay", "start": 118, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCDC47", "start": 11, "end": 17}, "tail": {"text": "Global Developmental Delay", "start": 118, "end": 144}}]}}, "schema": []}
{"input": "We have reported differences between fibroblasts cultured from normal scars and keloids that include a pattern of glucocorticoid resistance and altered regulation of genes in several signaling pathways associated with fibrosis, including Wnt and IGF/IGF-binding protein 5 (IGFBP5).", "output": {"entities": {"gene": [{"text": "IGFBP5", "start": 273, "end": 279}], "disease": [{"text": "scars", "start": 70, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "To explore hepatocyte transplantation (HT) as therapy for metabolic liver diseases, 8-week-old LEC rats (n = 12) were transplanted by intrasplenic injection of hepatocytes from donor Long Evans (LE) rats.", "output": {"entities": {"gene": [{"text": "LEC", "start": 95, "end": 98}], "disease": [{"text": "liver diseases", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Neurological picture. Orolingual angio-oedema after alteplase therapy in a stroke patient concurrently using angiotensin II receptor blocker.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 52, "end": 61}], "disease": [{"text": "angio-oedema", "start": 33, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alteplase", "start": 52, "end": 61}, "tail": {"text": "angio-oedema", "start": 33, "end": 45}}]}}, "schema": []}
{"input": "Taken together, our data support the hypothesis of an implication of NEDD8 through p27 and beta-catenin pathways in the disruption of adipogenesis and consequent lipodystrophy in patients affected by HIV infection under HAART therapy with qualitative and quantitative differences according to diverse antiretroviral treatments.", "output": {"entities": {"gene": [{"text": "p27", "start": 83, "end": 86}], "disease": [{"text": "lipodystrophy", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "These new findings demonstrate that the spectrum of TUBB3-related phenotype is broader than previously described and includes malformations of cortical development (MCD) associated with neuronal migration and differentiation defects, axonal guidance and tract organization impairment.", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 186, "end": 204}], "disease": [{"text": "malformations of cortical development", "start": 126, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Variants of MCPH1, FYN, APC, PRKCA, NIN, TopBP1, RIPK1, and SNW1 were not independently associated with pancreatic cancer risk.", "output": {"entities": {"gene": [{"text": "NIN", "start": 36, "end": 39}], "disease": [{"text": "pancreatic cancer", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Conversely, expression of GATA3, a key T-cell developmental gene silenced in aggressive lymphoma cells, was partially restored by PCM1-JAK2 knockdown.", "output": {"entities": {"gene": [{"text": "GATA3", "start": 26, "end": 31}], "disease": [{"text": "aggressive lymphoma", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "These results provided a new explanation for the enrichment of the Sp1 protein in various cancers, and revealed a regulation of SUMO2/3 conjugated proteins whose levels may be tightly controlled by SENP3 and RNF4.", "output": {"entities": {"gene": [{"text": "RNF4", "start": 208, "end": 212}], "disease": [{"text": "cancers", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate a major role for beta4-containing nicotinic acetylcholine receptors in the appearance of nicotine withdrawal symptoms.", "output": {"entities": {"gene": [{"text": "beta4", "start": 41, "end": 46}], "disease": [{"text": "withdrawal symptoms", "start": 122, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Associated with dry eye were 6 up-regulated proteins, alpha-enolase, alpha-1-acid glycoprotein 1, S100 A8 (calgranulin A), S100 A9 (calgranulin B), S100 A4 and S100 A11 (calgizzarin) and 4 down-regulated proteins, prolactin-inducible protein (PIP), lipocalin-1, lactoferrin and lysozyme.", "output": {"entities": {"gene": [{"text": "enolase, alpha", "start": 60, "end": 74}], "disease": [{"text": "dry eye", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Mutations at these two hotspots constitute & gt; 20% of the X-linked SCID mutations found by our group and a similar proportion of all reported IL2RG mutations.", "output": {"entities": {"gene": [{"text": "IL2RG", "start": 144, "end": 149}], "disease": [{"text": "X-linked SCID", "start": 60, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL2RG", "start": 144, "end": 149}, "tail": {"text": "X-linked SCID", "start": 60, "end": 73}}]}}, "schema": []}
{"input": "In patients with-55CC UCP3 genotype, a high mono-unsaturated hypocaloric diet reduced BMI, weight, waist circumference, waist to hip ratio, fat mass, LDL-cholesterol, total cholesterol and leptin levels.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 22, "end": 26}], "disease": [{"text": "mono", "start": 44, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that PDE4A and PLAT may be susceptibility genes for schizophrenia in the Japanese population.", "output": {"entities": {"gene": [{"text": "PDE4A", "start": 28, "end": 33}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE4A", "start": 28, "end": 33}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "This numerically rare B-cell subset is therefore functionally referred to as' B10 cells' to reflect both their molecular program and the fact that their anti-inflammatory effects in models of autoimmunity, infection and cancer are solely attributable to IL-10 production.", "output": {"entities": {"gene": [{"text": "B10", "start": 78, "end": 81}], "disease": [{"text": "autoimmunity", "start": 192, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Compared with the classic PCR approach, this new method allows the amplification of the DAZLA copy to be used as an effective internal control in infertile men with microdeletion of the DAZ locus.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 88, "end": 91}], "disease": [{"text": "infertile", "start": 146, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death.", "output": {"entities": {"gene": [{"text": "NIF-1", "start": 73, "end": 78}], "disease": [{"text": "neonatal death", "start": 149, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "There was a positive correlation between age, weight, height, bone age, and the various elements of the GH/IGF-I axis when all groups were considered, although the correlation was lost when the auxologic data were expressed as standard deviation score for age.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 107, "end": 112}], "disease": [{"text": "weight", "start": 46, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Moreover, it has been shown that phosphorylation-mediated inactivation of PTEN (phosphatase and tensin homolog) in RPE is closely linked to AMD-like retinal degeneration in mice [1].", "output": {"entities": {"gene": [{"text": "RPE", "start": 115, "end": 118}], "disease": [{"text": "retinal degeneration", "start": 149, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Re-analysis of a microarray database of human postmortem prefrontal cortex (Brodmann' s Area 46/10) found that RNF41 messenger RNA expression levels were reduced significantly in patients with major depression and bipolar disorder compared with unaffected control subjects and confirmed by qRT-PCR.", "output": {"entities": {"gene": [{"text": "RNF41", "start": 111, "end": 116}], "disease": [{"text": "major depression", "start": 193, "end": 209}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNF41", "start": 111, "end": 116}, "tail": {"text": "major depression", "start": 193, "end": 209}}]}}, "schema": []}
{"input": "Four patients with B27-JA, and none in the control group, had inflammatory aortic regurgitation.", "output": {"entities": {"gene": [{"text": "B27", "start": 19, "end": 22}], "disease": [{"text": "aortic regurgitation", "start": 75, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Ring finger protein (RNF) 180 has been shown to participate in the processes of lymph node metastasis in several human malignancies.", "output": {"entities": {"gene": [{"text": "RNF", "start": 21, "end": 24}], "disease": [{"text": "lymph node metastasis", "start": 80, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrate the existence of a novel OCT preferentially expressed in human hematopoietic tissues, including CD34 (+) cells and leukemia cells.", "output": {"entities": {"gene": [{"text": "OCT", "start": 49, "end": 52}], "disease": [{"text": "leukemia", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Streptococcus pyogenes (or group A streptococcus [GAS]) is a major human pathogen causing infections, such as tonsillitis, erysipelas, and sepsis.", "output": {"entities": {"gene": [{"text": "GAS", "start": 50, "end": 53}], "disease": [{"text": "erysipelas", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.", "output": {"entities": {"gene": [{"text": "BCHE", "start": 70, "end": 74}], "disease": [{"text": "breast cancer", "start": 160, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCHE", "start": 70, "end": 74}, "tail": {"text": "breast cancer", "start": 160, "end": 173}}]}}, "schema": []}
{"input": "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms resulting from the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 117, "end": 123}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "COL3A1 mutation leading to acrogeria (Gottron Type)", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 0, "end": 6}], "disease": [{"text": "acrogeria (Gottron Type", "start": 27, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 0, "end": 6}, "tail": {"text": "acrogeria (Gottron Type", "start": 27, "end": 50}}]}}, "schema": []}
{"input": "By using flow cytometry and western blotting, here we show that hypermethylated in cancer 1 can deregulate ecotropic viral integration site 1-mediated blockage of apoptosis.", "output": {"entities": {"gene": [{"text": "viral integration site 1", "start": 117, "end": 141}], "disease": [{"text": "cancer", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In overweight, nondiabetic Chinese adults, G482S polymorphism in the PPARGC1A gene is associated with hyperinsulinemia, HOMA-IR indices, and abdominal obesity.", "output": {"entities": {"gene": [{"text": "PPARGC1A gene", "start": 69, "end": 82}], "disease": [{"text": "overweight", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The effect of low molecular weight isoforms of cyclin E (LMW-E) overexpression on mitotic progression and its link to genomic instability were the focus of this study.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 47, "end": 55}], "disease": [{"text": "genomic instability", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Role of activator protein-1 in the down-regulation of the human CYP2J2 gene in hypoxia.", "output": {"entities": {"gene": [{"text": "CYP2J2 gene", "start": 64, "end": 75}], "disease": [{"text": "hypoxia", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins.", "output": {"entities": {"gene": [{"text": "KLF1", "start": 21, "end": 25}], "disease": [{"text": "abnormalities", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Based on our genetic results, TTC7A is the likely causal gene for MIA.", "output": {"entities": {"gene": [{"text": "TTC7A", "start": 30, "end": 35}], "disease": [{"text": "MIA", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTC7A", "start": 30, "end": 35}, "tail": {"text": "MIA", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "NARP is a recently described, maternally inherited mitochondrial syndrome in which a retinal dystrophy, among other abnormalities, is related to a mutation of the mtDNA at nucleotide 8993.", "output": {"entities": {"gene": [{"text": "NARP", "start": 0, "end": 4}], "disease": [{"text": "abnormalities", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.", "output": {"entities": {"gene": [{"text": "miR-142", "start": 67, "end": 74}], "disease": [{"text": "T2D", "start": 182, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-142", "start": 67, "end": 74}, "tail": {"text": "T2D", "start": 182, "end": 185}}]}}, "schema": []}
{"input": "We assessed 41 PCCs/PGLs for mutations in EPAS1 and herein describe the clinical, molecular and genetic characteristics of the 7 patients found to carry somatic EPAS1 mutations; 4 presented with multiple PGLs (3 of them also had congenital erythrocytosis), whereas 3 were single sporadic PCC/PGL cases.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 20, "end": 24}], "disease": [{"text": "congenital erythrocytosis", "start": 229, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Genotyping was performed for HLA class I and II alleles as well as polymorphisms within tumor necrosis factor (TNF), lymphotoxin alpha (TLalpha) and heat shock protein (HSP70-02 and HSP70-hom) genes.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 169, "end": 174}], "disease": [{"text": "shock", "start": 154, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "These results warrant further study of ZIC2 in the pathogenesis of schizophrenia.", "output": {"entities": {"gene": [{"text": "ZIC2", "start": 39, "end": 43}], "disease": [{"text": "schizophrenia", "start": 67, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZIC2", "start": 39, "end": 43}, "tail": {"text": "schizophrenia", "start": 67, "end": 80}}]}}, "schema": []}
{"input": "Furthermore, a synthetic peptide mimicking domain 491-504 of gp91-phox inhibited NADPH oxidase activity in the cell-free assay (IC50 about 10 microM), and the translocation of p47-phox and p67-phox in the cell-free translocation assay.", "output": {"entities": {"gene": [{"text": "gp91-phox", "start": 61, "end": 70}], "disease": [{"text": "translocation", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism of the LMP2 gene and disease phenotype in ankylosing spondylitis: no association with disease severity.", "output": {"entities": {"gene": [{"text": "LMP2", "start": 20, "end": 24}], "disease": [{"text": "spondylitis", "start": 66, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The results have shown that pilocarpine administration and resulting SE produced a significant increase in hippocampal catalase activity of (88%).", "output": {"entities": {"gene": [{"text": "catalase", "start": 119, "end": 127}], "disease": [{"text": "SE", "start": 69, "end": 71}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 119, "end": 127}, "tail": {"text": "SE", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "Furthermore, formation of CK8 and CK18 complexes due to CK8 phosphorylation at Ser73 and Ser431 was found to be strongly associated with promotion of hepatocarcinogenesis by PB and the development of hepatocellular carcinomas.", "output": {"entities": {"gene": [{"text": "CK8", "start": 26, "end": 29}], "disease": [{"text": "hepatocarcinogenesis", "start": 150, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "ALCAM, a member of the immunoglobulin superfamily, was detected as one of the most highly upregulated genes among 103 cell-adhesion molecules with microarray analysis.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Cardiac death groups showed higher ANP and/or BNP mRNA expressions in the left ventricle than acute fatal bleeding (sharp instrumental injury; n = 15) and/or mechanical asphyxiation (strangulation; n = 10).", "output": {"entities": {"gene": [{"text": "ANP", "start": 35, "end": 38}], "disease": [{"text": "asphyxiation", "start": 169, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1, one of the four subunits of the adaptor protein complex-4 (AP-4), identified by chromosomal microarray analysis.", "output": {"entities": {"gene": [{"text": "AP-4", "start": 312, "end": 316}], "disease": [{"text": "profound intellectual disability", "start": 93, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN (T) deletion.", "output": {"entities": {"gene": [{"text": "SMN", "start": 108, "end": 111}], "disease": [{"text": "congenital heart disease", "start": 21, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We recently reported a mutation in the PRKAG2 gene to be responsible for a familial syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "PRKAG2 gene", "start": 39, "end": 50}], "disease": [{"text": "cardiac hypertrophy", "start": 168, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "There were significant interactions between SULT1A1 * 3 and hot flashes (P & lt; 0. 001) and between SULT1A1 * 2 and depressive symptoms (P = 0. 007) on menopausal stage, and there were race-specific effects of SULT1A1 * 2, SULT1A1 * 3, CYP1B1 * 3, and CYP3A4 * 1B on menopause.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 237, "end": 243}], "disease": [{"text": "depressive symptoms", "start": 117, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1B1", "start": 237, "end": 243}, "tail": {"text": "depressive symptoms", "start": 117, "end": 136}}]}}, "schema": []}
{"input": "Analysis of the relationship between ING3 staining and clinico-pathological characteristics of HCC showed that the low expression of ING3 protein is correlated with more aggressive behavior of the tumor.", "output": {"entities": {"gene": [{"text": "HCC", "start": 95, "end": 98}], "disease": [{"text": "aggressive behavior", "start": 170, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The inhibitory migratory response to ascites and LPA was also observed in the cells treated with pertussis toxin (PTX), a G (i) protein inhibitor, and attenuated by a small interfering RNA (siRNA) specific to the LPA (2) receptor.", "output": {"entities": {"gene": [{"text": "LPA", "start": 49, "end": 52}], "disease": [{"text": "ascites", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Variants at the FTO, TMEM18, FAIM2, RBJ, ZNF608 and QPCTL loci yielded nominal evidence for association with BMI and/or overweight risk (p < 0. 05).", "output": {"entities": {"gene": [{"text": "RBJ", "start": 36, "end": 39}], "disease": [{"text": "overweight", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Using BMPRII siRNA and BMPRII (+/-) mice, we found that specific knockdown of BMPRII, but not other BMP receptors (Alk1, Alk2, Alk3, Alk6, ActRIIa, and ActRIIb), induced endothelial inflammation in a ligand-independent manner by mechanisms mediated by reactive oxygen species, nuclear factor-KappaB, and reduced nicotinamide adenine dinucleotide phosphate oxidases.", "output": {"entities": {"gene": [{"text": "ActRIIb", "start": 152, "end": 159}], "disease": [{"text": "inflammation", "start": 182, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions.", "output": {"entities": {"gene": [{"text": "Wnt5a", "start": 40, "end": 45}], "disease": [{"text": "pulmonary hypoplasia", "start": 99, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1. 2E-07) for weight; an intronic variant in MTNR1B associated with fasting glucose (p = 3. 7E-08); variants in the APOA5-ZNF259 region associated with triglycerides (p = 2. 5-4. 8E-08); an intronic variant in PCSK2 associated with total antioxidants (p = 7. 6E-08); a block of 23 SNPs in XPA/FOXE1 (TTF-2) associated with serum TSH (p = 5. 5E-08 to 1. 0E-09); a nonsynonymous SNP (p = 1. 3E-21), an intronic SNP (p = 3. 6E-13) in DARC identified for MCP-1; an intronic variant in ARHGAP11A associated with sleep duration (p = 5. 0E-08); and, after adjusting for body weight, variants in MATK for total energy expenditure (p = 2. 7E-08) and in CHRNA3 for sleeping energy expenditure (p = 6. 0E-08).", "output": {"entities": {"gene": [{"text": "DARC", "start": 502, "end": 506}], "disease": [{"text": "body weight", "start": 634, "end": 645}]}, "relations": {}}, "schema": []}
{"input": "Shunt-operated TGR/hALC-1 and WKY rats developed comparable levels of cardiac hypertrophy which was associated with significant reduction of contractile parameters of the Langendorff hearts.", "output": {"entities": {"gene": [{"text": "TGR", "start": 15, "end": 18}], "disease": [{"text": "cardiac hypertrophy", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Instead, our data supported an XRCC1 x smoking interaction (P = 0. 048).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 31, "end": 36}], "disease": [{"text": "smoking", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity (LOH) on chromosome arm 18q is common in sporadic prostate cancer and may be involved in cancer development through inactivation of tumor-suppressor genes (TSG).", "output": {"entities": {"gene": [{"text": "TSG", "start": 179, "end": 182}], "disease": [{"text": "prostate cancer", "start": 73, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "TNF-α could significantly increase the translocation of NF-κB p65 protein into the nucleus in a dose-dependent manner, while SB203580 partially inhibited.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We attempted to estimate the association of gene variants with neurodevelopmental disorders in patients with autism-epilepsy phenotype (AEP) and cranial overgrowth, analyzing two genes previously reported to be associated with autism and macrocephaly.", "output": {"entities": {"gene": [{"text": "AEP", "start": 136, "end": 139}], "disease": [{"text": "macrocephaly", "start": 238, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle.", "output": {"entities": {"gene": [{"text": "COX", "start": 167, "end": 170}], "disease": [{"text": "sporadic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Reduced thrombosis in Klkb1-/-mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor.", "output": {"entities": {"gene": [{"text": "KLF4", "start": 99, "end": 103}], "disease": [{"text": "thrombosis", "start": 8, "end": 18}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "KLF4", "start": 99, "end": 103}, "tail": {"text": "thrombosis", "start": 8, "end": 18}}]}}, "schema": []}
{"input": "Quantitative expression analysis of the genes flanking the breakpoints, revealed increased transcript levels for SFRS protein kinase 1 (SRPK1) and TAO kinase 1 (TAOK1) which suggests a positional effect due to the translocation.", "output": {"entities": {"gene": [{"text": "TAOK1", "start": 161, "end": 166}], "disease": [{"text": "translocation", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We identified mutations in ARL13B in two families with the classical form of JS.", "output": {"entities": {"gene": [{"text": "ARL13B", "start": 27, "end": 33}], "disease": [{"text": "JS", "start": 77, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARL13B", "start": 27, "end": 33}, "tail": {"text": "JS", "start": 77, "end": 79}}]}}, "schema": []}
{"input": "The frequency, nature, and distribution of p53 abnormalities, their temporal relationship to the metastatic and clinicopathologic phenotypes of sporadic and familial pancreatic cancer, and their consequent effects on the genetics and expression of critical wild-type p53-regulated genes (mdm-2 and p21/WAF-1) warrant examination in pancreatic adenocarcinoma.", "output": {"entities": {"gene": [{"text": "p53", "start": 43, "end": 46}], "disease": [{"text": "sporadic", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Fifteen days prior to coronary artery occlusion, rabbits were treated with intramyocardial injections of AdCMV. sp + aFGF (1-154), the control vector AdCMV. NLSbetagal (1 x 10 (9) plaque-forming units), or saline.", "output": {"entities": {"gene": [{"text": "aFGF", "start": 117, "end": 121}], "disease": [{"text": "coronary artery occlusion", "start": 22, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "This translocation encodes the EWS/FLI fusion protein.", "output": {"entities": {"gene": [{"text": "EWS", "start": 31, "end": 34}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "We assessed the CpG island methylator phenotype (CIMP) using eight methylation markers [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and LINE-1 (L1) hypomethylation, TP53 (p53), and microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "SOCS1", "start": 151, "end": 156}], "disease": [{"text": "microsatellite instability", "start": 208, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "These results indicate a potential role for synovial AQP1 and other aquaporins in joint swelling and the vasogenic edema fluid formation and hydrarthrosis associated with synovial inflammation.", "output": {"entities": {"gene": [{"text": "AQP1", "start": 53, "end": 57}], "disease": [{"text": "joint swelling", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The hearts were then arrested by soaking them in cold St. Thomas Hospital II solution (STH) for 5, 7, and 15 h. Reperfusion was performed by low-flow cold STH delivering for 1 h followed by 15-min aerobic normothermic KH perfusion.", "output": {"entities": {"gene": [{"text": "STH", "start": 87, "end": 90}], "disease": [{"text": "cold", "start": 49, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "To evaluate Wnt5a expression and its role in angiogenesis of non-small-cell lung cancer (NSCLC), immunohistochemistry and CD31/PAS double staining were performed to examine the Wnt5a expression and we analyze the relationships between Wnt5a and microvessel density (MVD), vasculogenic mimicry (VM), and some related proteins.", "output": {"entities": {"gene": [{"text": "MVD", "start": 266, "end": 269}], "disease": [{"text": "lung cancer", "start": 76, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Since ERalpha and ERbeta mediate opposing transcriptional activities, any effect of estrogen on the growth and development of fibroids is likely to be complex and may involve both SMC and MEC.", "output": {"entities": {"gene": [{"text": "SMC", "start": 180, "end": 183}], "disease": [{"text": "fibroids", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own, the discovery of additional susceptibility loci in the future may aid in the stratification of atopic subjects and improve risk assessment.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 48, "end": 53}], "disease": [{"text": "atopic", "start": 279, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors.", "output": {"entities": {"gene": [{"text": "ACE", "start": 131, "end": 134}], "disease": [{"text": "teratogenic effects", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that this mutation could be a risk factor in the Finnish FAD and sporadic AD population.", "output": {"entities": {"gene": [{"text": "FAD", "start": 77, "end": 80}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "A candidate-based genetic screen in Drosophila expressing 30 G4C2 repeats identified RanGAP (Drosophila orthologue of human RanGAP1), a key regulator of nucleocytoplasmic transport, as a potent suppressor of neurodegeneration.", "output": {"entities": {"gene": [{"text": "RanGAP1", "start": 124, "end": 131}], "disease": [{"text": "neurodegeneration", "start": 208, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the relationship between biological behavior and microsatellite instability (MSI) status, with or without p53 status, in sporadic colorectal carcinoma.", "output": {"entities": {"gene": [{"text": "p53", "start": 119, "end": 122}], "disease": [{"text": "sporadic", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "TL was measured by quantitative PCR in 178 sporadic and 168 hereditary ovarian cases (46 BRCA1, 12 BRCA2, and 110 BRCAX) and compared to TL in 267 controls.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 99, "end": 104}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Since LTG is primarily metabolized by UGT1A4 and this isozyme is shown to be present in placenta at term, it may be hypothesized that the placenta is involved in the fall of LTG serum concentrations during pregnancy.", "output": {"entities": {"gene": [{"text": "UGT1A4", "start": 38, "end": 44}], "disease": [{"text": "fall", "start": 166, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The relationship between GGT and BMI was estimated after splitting the sample into normal (BMI < or = 25 kg/m2) and overweight (BMI > 25 kg/m2) subjects.", "output": {"entities": {"gene": [{"text": "GGT", "start": 25, "end": 28}], "disease": [{"text": "overweight", "start": 116, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.", "output": {"entities": {"gene": [{"text": "acid beta-glucosidase", "start": 116, "end": 137}], "disease": [{"text": "Type 1 Gaucher disease", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid beta-glucosidase", "start": 116, "end": 137}, "tail": {"text": "Type 1 Gaucher disease", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "This study replicates the previous finding of a high rate of conversion from BD-NOS to BD-I or II among youth, and suggests conversion is related to symptoms of bipolar disorder or depression diagnoses in the family history.", "output": {"entities": {"gene": [{"text": "NOS", "start": 80, "end": 83}], "disease": [{"text": "depression", "start": 181, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 80, "end": 83}, "tail": {"text": "depression", "start": 181, "end": 191}}]}}, "schema": []}
{"input": "In the definite M-D group, 50% carried an SGCE mutation and one single patient in the probable group (4%).", "output": {"entities": {"gene": [{"text": "SGCE", "start": 42, "end": 46}], "disease": [{"text": "M-D", "start": 16, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGCE", "start": 42, "end": 46}, "tail": {"text": "M-D", "start": 16, "end": 19}}]}}, "schema": []}
{"input": "Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.", "output": {"entities": {"gene": [{"text": "COL4A6", "start": 55, "end": 61}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "PURPOSE: Tumor protein D54 (TPD54) belongs to the TPD52 family of proteins and is expressed in several types of cancer, including oral squamous cell carcinoma (OSCC).", "output": {"entities": {"gene": [{"text": "TPD52", "start": 50, "end": 55}], "disease": [{"text": "squamous cell carcinoma", "start": 135, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "2) IL28Brs12979860 polymorphisms are not associated with disease progression or aggression (histological staging, severity of fibrosis in CH or the incidence of post-HCV HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 170, "end": 173}], "disease": [{"text": "aggression", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The goal of this study was to determine the role of an influx copper transporter, CTR1, in the ototoxicity induced by cisplatin, a potent anticancer platinum analog used in the treatment of a variety of solid tumors.", "output": {"entities": {"gene": [{"text": "CTR1", "start": 82, "end": 86}], "disease": [{"text": "ototoxicity", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These patients had extremely low naive CD4 (+) T-cell counts, which were more severely reduced compared with those seen in patients with classical AT without hypogammaglobulinemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 39, "end": 42}], "disease": [{"text": "hypogammaglobulinemia", "start": 158, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Regarding C/A polymorphism in intron 1 at position 734, no significant difference was found in the plasma concentrations of HAL corrected for dose and weight among the subjects with A/A (n = 21), A/C (n = 14) and C/C (n = 5) genotypes (one-way analysis of variance: 63. 1 +/-18. 5, 47. 8 +/-12. 5 and 50. 8 +/-15. 1 ng/ml/mg/kg, respectively, F (2, 37) = 2. 556, P =. 09).", "output": {"entities": {"gene": [{"text": "HAL", "start": 124, "end": 127}], "disease": [{"text": "weight", "start": 151, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "PSAPP/S100A1 (-/-) mice exhibited decreases in astrocytosis (GFAP burden), microgliosis (Iba1 burden) and plaque load/number when compared to PSAPP/S100A1 (+/+) mice at six and twelve months of age.", "output": {"entities": {"gene": [{"text": "Iba1", "start": 89, "end": 93}], "disease": [{"text": "plaque", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that Maged1-deficient mice develop progressive obesity associated with hyperphagia and reduced motor activity.", "output": {"entities": {"gene": [{"text": "Maged1", "start": 19, "end": 25}], "disease": [{"text": "hyperphagia", "start": 85, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Here we have found the disruption of two genes encoding putative cell-adhesion molecules, CDH15 (cadherin superfamily) and KIRREL3 (immunoglobulin superfamily), by a chromosomal translocation t (11; 16) in a female patient with intellectual disability (ID).", "output": {"entities": {"gene": [{"text": "KIRREL3", "start": 123, "end": 130}], "disease": [{"text": "adhesion", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to describe the association between polymorphisms at the KCNQ1 locus with insulin resistance, beta-cell function, and other type 2 diabetes-related traits in a sample of Chinese, Malays, and Asian Indians living in Singapore.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 75, "end": 80}], "disease": [{"text": "insulin resistance", "start": 92, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "This case provides a second report of a PEO with different mutations in the POLG and C10orf2/Twinkle genes, supporting the hypothesis that the PEO phenotype can be determined by the co-existence of two abnormalities in separate genes, both involved in the maintenance and stability of mtDNA.", "output": {"entities": {"gene": [{"text": "PEO", "start": 40, "end": 43}], "disease": [{"text": "abnormalities", "start": 202, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Older age was significantly correlated with increases in VIQ relative to PIQ in the patient group, which suggests the intriguing possibility that the PIQ < VIQ subgroup primarily emerges in young adulthood, perhaps in response to the reported hormonal abnormalities detected in Klinefelter syndrome patients during puberty.", "output": {"entities": {"gene": [{"text": "PIQ", "start": 73, "end": 76}], "disease": [{"text": "abnormalities", "start": 252, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "In addition, siRNA was used to silence ROR1, ROR2 and Wnt5a individually, and together, in two ovarian cancer cell lines, and the effects on cell proliferation, adhesion, migration and invasion were measured.", "output": {"entities": {"gene": [{"text": "ROR2", "start": 45, "end": 49}], "disease": [{"text": "adhesion", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Loss of Prox1 also decreased autophagy and the survival of hypoxic tumor cells in tumor transplants.", "output": {"entities": {"gene": [{"text": "Prox1", "start": 8, "end": 13}], "disease": [{"text": "hypoxic", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In addition, a long-lived RTCGD-hit clone, L-34, had a retroviral integration at a position 179 kb upstream of the EVI1 gene.", "output": {"entities": {"gene": [{"text": "EVI1", "start": 115, "end": 119}], "disease": [{"text": "hit", "start": 32, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "NAT2 slow acetylation and GSTM1 null genotypes may increase postmenopausal breast cancer risk in long-term smoking women.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Pituitary tumor-transforming gene-1 is usually expressed in most pituitary tumors, and little is known about phosphatase and tensin homologue (PTEN).", "output": {"entities": {"gene": [{"text": "tensin", "start": 125, "end": 131}], "disease": [{"text": "pituitary tumors", "start": 65, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Protection of ischemic post conditioning against transient focal ischemia-induced brain damage is associated with inhibition of neuroinflammation via modulation of TLR2 and TLR4 pathways.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 164, "end": 168}], "disease": [{"text": "ischemia", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In these experiments we used both pharmacologic and genetic approaches to test the hypothesis that IDO activation is responsible for the development of chronic depression that follows BCG infection.", "output": {"entities": {"gene": [{"text": "IDO", "start": 99, "end": 102}], "disease": [{"text": "chronic depression", "start": 152, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IDO", "start": 99, "end": 102}, "tail": {"text": "chronic depression", "start": 152, "end": 170}}]}}, "schema": []}
{"input": "Parathyroid hormone-related protein protects against mammary tumor emergence and is associated with monocyte infiltration in ductal carcinoma in situ.", "output": {"entities": {"gene": [{"text": "Parathyroid hormone-related protein", "start": 0, "end": 35}], "disease": [{"text": "mammary tumor", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the EGFR and HER2 genes were more frequently found in female never or light-smoking patients with adenocarcinoma, and there were no tumors that had two or more mutations simultaneously among EGFR, HER2 and KRAS.", "output": {"entities": {"gene": [{"text": "HER2", "start": 26, "end": 30}], "disease": [{"text": "smoking", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The present results in amygdala kindling and chemical seizure models suggest that NPY may play a more prominent role in determining seizure thresholds and severity of seizures than in events leading to epileptogenesis.", "output": {"entities": {"gene": [{"text": "NPY", "start": 82, "end": 85}], "disease": [{"text": "seizure", "start": 54, "end": 61}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 82, "end": 85}, "tail": {"text": "seizure", "start": 54, "end": 61}}]}}, "schema": []}
{"input": "Specifically, JAM-A expressed on human CD34 (+) progenitor cells regulates their adhesion over immobilized platelets or inflammatory endothelium under high shear stress in vitro and after carotid ligation in vivo or ischemia/reperfusion injury in the microcirculation of mice.", "output": {"entities": {"gene": [{"text": "JAM-A", "start": 14, "end": 19}], "disease": [{"text": "ischemia", "start": 216, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "To explore the immunogenetic features of human leukocyte antigen DRB1, DQB1 locus and children with Helicobacter pylori (H. pylori) infection in Han ethnic population in Kunming and its association with digestive diseases and H. pylori to better understand the immunogenetic features of the H. pylori infection.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 65, "end": 69}], "disease": [{"text": "digestive diseases", "start": 203, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Treatment with alpha interferon of chronic hepatitis is necessary to delary or prevent the progression to liver cirrhosis and development of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 141, "end": 144}], "disease": [{"text": "chronic hepatitis", "start": 35, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Healing of duodenal ulcers is not impaired by indomethacin or rofecoxib, the selective COX-2 inhibitor, in rats.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 87, "end": 92}], "disease": [{"text": "duodenal ulcers", "start": 11, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 87, "end": 92}, "tail": {"text": "duodenal ulcers", "start": 11, "end": 26}}]}}, "schema": []}
{"input": "To examine whether overexpression of EMSY would mimic the chromosome instability phenotype that is associated with the loss of Brca2 function, we constructed a lentiviral vector (Lenti-EMSY/GFP) that encodes a truncated form of the Emsy protein, including its Brca2-interacting domain, and green fluorescent protein (GFP) and used it to transduce human telomerase-immortalized human breast epithelial (184-hTert) cells, which have a nearly normal karyotype.", "output": {"entities": {"gene": [{"text": "Brca2", "start": 127, "end": 132}], "disease": [{"text": "chromosome instability", "start": 58, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Discordant findings for interferon gamma, cytotoxic T cells, B cells, and plasma cells challenge a critical role for these factors in the process of aneurysm growth.", "output": {"entities": {"gene": [{"text": "interferon gamma", "start": 24, "end": 40}], "disease": [{"text": "aneurysm", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Alterations of the tumor suppressor gene ARLTS1 in ovarian cancer.", "output": {"entities": {"gene": [{"text": "ARLTS1", "start": 41, "end": 47}], "disease": [{"text": "ovarian cancer", "start": 51, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARLTS1", "start": 41, "end": 47}, "tail": {"text": "ovarian cancer", "start": 51, "end": 65}}]}}, "schema": []}
{"input": "To define the contribution of A20 to rheumatoid arthritis pathology, we generated myeloid-specific A20-deficient mice and show that specific ablation of Tnfaip3 in myeloid cells results in spontaneous development of a severe destructive polyarthritis with many features of rheumatoid arthritis.", "output": {"entities": {"gene": [{"text": "Tnfaip3", "start": 153, "end": 160}], "disease": [{"text": "polyarthritis", "start": 237, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Our results with the colocalization of phosphorylated ATM and γ-H2AX with 8-oxodG and 8-nitroguanine in inflammation-related cancer tissues suggest that DNA base damage leads to double-stranded breaks.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 64, "end": 68}], "disease": [{"text": "inflammation", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.", "output": {"entities": {"gene": [{"text": "epsilon-sarcoglycan", "start": 79, "end": 98}], "disease": [{"text": "myoclonus-dystonia", "start": 46, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "epsilon-sarcoglycan", "start": 79, "end": 98}, "tail": {"text": "myoclonus-dystonia", "start": 46, "end": 64}}]}}, "schema": []}
{"input": "In myeloid leukemia cells, CDP/cut binding activity as assayed on the promoter of the phagocyte-specific cytochrome heavy chain gene gp91-phox varies inversely with expression of gp91-phox mRNA.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 116, "end": 127}], "disease": [{"text": "myeloid leukemia", "start": 3, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "To analyze downstream cascades of ALK3 signaling, we utilized adenovirus vectors carrying either Smad1 to stimulate Smad pathways or constitutively active MKK6 (MKK6CA) to activate p38 pathways.", "output": {"entities": {"gene": [{"text": "MKK6", "start": 155, "end": 159}], "disease": [{"text": "adenovirus", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Methylation status of the 32 randomly selected and 16 potential tumor-related genes was analyzed in 10 primary gastric cancers, and 42 genes (ABHD9, ADFP, ALDH1A3, ANXA5, AREG, BDNF, BMP7, CAV1, CDH2, CLDN3, CTSL, EEF1A2, F2R, FADS1, FSD1, FST, FYN, GPR54, GREM1, IGFBP3, IGFBP7, IRS2, KISS1, MARK1, MLF1, MSX1, MTSS1, NT5E, PAX6, PLAGL1, PLAU, PPIC, RBP4, RORA, SCRN1, TBX3, TFAP2C, TNFSF9, ULBP2, WIF1, ZNF177 and ZNF559) were methylated in at least one primary gastric cancer.", "output": {"entities": {"gene": [{"text": "AREG", "start": 171, "end": 175}], "disease": [{"text": "gastric cancers", "start": 111, "end": 126}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AREG", "start": 171, "end": 175}, "tail": {"text": "gastric cancers", "start": 111, "end": 126}}]}}, "schema": []}
{"input": "Our results indicate that C15orf53 is probably neither causative for the etiology of BD nor for SCZD10 in our samples.", "output": {"entities": {"gene": [{"text": "C15orf53", "start": 26, "end": 34}], "disease": [{"text": "BD", "start": 85, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C15orf53", "start": 26, "end": 34}, "tail": {"text": "BD", "start": 85, "end": 87}}]}}, "schema": []}
{"input": "A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.", "output": {"entities": {"gene": [{"text": "uromodulin", "start": 65, "end": 75}], "disease": [{"text": "familial juvenile hyperuricemic nephropathy", "start": 10, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "uromodulin", "start": 65, "end": 75}, "tail": {"text": "familial juvenile hyperuricemic nephropathy", "start": 10, "end": 53}}]}}, "schema": []}
{"input": "Here, we searched for deletions within recently identified SOX10 regulatory sequences and describe the first characterization of a WS4 patient presenting with a large deletion encompassing three of these enhancers.", "output": {"entities": {"gene": [{"text": "SOX10", "start": 59, "end": 64}], "disease": [{"text": "WS4", "start": 131, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX10", "start": 59, "end": 64}, "tail": {"text": "WS4", "start": 131, "end": 134}}]}}, "schema": []}
{"input": "Reverse transcription polymerase chain reaction and direct sequencing analysis revealed that the tumor harbored a t (11; 22) translocation, involving EWSR1 and FLI-1, which are characteristic of EFTs.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 150, "end": 155}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.", "output": {"entities": {"gene": [{"text": "PSD95", "start": 40, "end": 45}], "disease": [{"text": "major depression", "start": 122, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 40, "end": 45}, "tail": {"text": "major depression", "start": 122, "end": 138}}]}}, "schema": []}
{"input": "Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.", "output": {"entities": {"gene": [{"text": "HLA-DRA", "start": 186, "end": 193}], "disease": [{"text": "adhesion", "start": 264, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.", "output": {"entities": {"gene": [{"text": "aspartoacylase", "start": 33, "end": 47}], "disease": [{"text": "Canavan disease", "start": 56, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aspartoacylase", "start": 33, "end": 47}, "tail": {"text": "Canavan disease", "start": 56, "end": 71}}]}}, "schema": []}
{"input": "The immunoreactivity of the stromal cells was more abundant in the intestinal type than in the diffuse type, and these stromal expressions of seprase in the intestinal type correlated with the liver (13/13 = 100% of cases with metastases) or lymph node metastases (33/34 = 97% of cases with metastases).", "output": {"entities": {"gene": [{"text": "seprase", "start": 142, "end": 149}], "disease": [{"text": "lymph node metastases", "start": 242, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Associations between the IL-4-590 T allele and Plasmodium falciparum infection prevalence in asymptomatic Fulani of Mali.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 25, "end": 29}], "disease": [{"text": "asymptomatic", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Previous studies demonstrated its regulation through estrogens, suggesting possible importance of NUDT2 in breast carcinoma.", "output": {"entities": {"gene": [{"text": "NUDT2", "start": 98, "end": 103}], "disease": [{"text": "breast carcinoma", "start": 107, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NUDT2", "start": 98, "end": 103}, "tail": {"text": "breast carcinoma", "start": 107, "end": 123}}]}}, "schema": []}
{"input": "We investigated PDGFRA abnormalities and their clinical impact on 619 primary diffuse gliomas, including 167 grade II, 168 grade III, and 284 grade IV gliomas, with use of BAC-aCGH and validated our findings by quantitative polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 16, "end": 22}], "disease": [{"text": "abnormalities", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "These data show that long-term PDE5A treatment corrected CVOD in the aged rat and partially reversed the aging-related fibrosis and loss of SMC in the corpora cavernosa without affecting TGFB1 or PTPN11 levels, which are markers of oxidative stress.", "output": {"entities": {"gene": [{"text": "PTPN11", "start": 196, "end": 202}], "disease": [{"text": "fibrosis", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "T allele of the 511 site of IL-1β gene and V allele of the second introne of IL-1Ra gene might be the genetic basis of the rising of IL-1β, IL-1Ra and US-CRP levels in blood serum of PCOS patients, and are associated with the infertility occurrence of PCOS patients.", "output": {"entities": {"gene": [{"text": "CRP", "start": 154, "end": 157}], "disease": [{"text": "infertility", "start": 226, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Six PPARG SNPs (rs2959272, rs1386835, rs709158, rs1175540, rs1175544, and rs1797912) were significantly associated with the weight reduction, with rs1175544 having the strongest association (P = 0. 004).", "output": {"entities": {"gene": [{"text": "PPARG", "start": 4, "end": 9}], "disease": [{"text": "weight reduction", "start": 124, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The present data suggest that inactivation of the FHIT gene by loss of expression is one of the important molecular events associated with the genesis of ovarian carcinoma, especially of high-grade serous carcinoma.", "output": {"entities": {"gene": [{"text": "FHIT gene", "start": 50, "end": 59}], "disease": [{"text": "serous carcinoma", "start": 198, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "None of our DRD patients without a mutation in GCH-1 had the 3-bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with linkage to 9q34.", "output": {"entities": {"gene": [{"text": "GCH-1", "start": 47, "end": 52}], "disease": [{"text": "DRD", "start": 12, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCH-1", "start": 47, "end": 52}, "tail": {"text": "DRD", "start": 12, "end": 15}}]}}, "schema": []}
{"input": "We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre-and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies.", "output": {"entities": {"gene": [{"text": "SF3B4", "start": 58, "end": 63}], "disease": [{"text": "agenesis", "start": 243, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "The mouse model of bleomycin-induced dermal fibrosis was used to assess the role of JunD in experimental fibrosis.", "output": {"entities": {"gene": [{"text": "JunD", "start": 84, "end": 88}], "disease": [{"text": "fibrosis", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "This study represents the first report to identify PLAUR as a potential asthma susceptibility gene and determine PLAUR regions underlying this association, including a role in influencing plasma PLAUR levels.", "output": {"entities": {"gene": [{"text": "PLAUR", "start": 51, "end": 56}], "disease": [{"text": "asthma susceptibility", "start": 72, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Results demonstrated that both liposomal transfer of HSP72 and thermal induction of HSP72 prevented NF-kappaB activation and translocation, TNF-alpha gene transcription, and subsequent ischemia-induced renal tubular cell apoptosis.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 140, "end": 149}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "To investigate the basis for this overlap, we genotyped a cohort of 44 LQT3 families of multiple ethnicities from 7 referral centers and found a high prevalence of the E1784K mutation in SCN5A.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 187, "end": 192}], "disease": [{"text": "LQT3", "start": 71, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 187, "end": 192}, "tail": {"text": "LQT3", "start": 71, "end": 75}}]}}, "schema": []}
{"input": "Seminal AMH was significantly higher in fertile than infertile OAT men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 63, "end": 66}], "disease": [{"text": "infertile", "start": 53, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Vasopressin and other neuropeptides are believed to serve as autocrine growth factors for small-cell carcinoma of the lung (SCCL), and these mitogenic influences are reported to involve increases in intracellular Ca2 +.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 213, "end": 216}], "disease": [{"text": "carcinoma of the lung", "start": 101, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We compared expression levels of mRNA and protease activity of uPA and plasmin formation in primary cultures of the noninvasive transitional cell carcinoma, UCT-1, and in the highly invasive type, UCT-2.", "output": {"entities": {"gene": [{"text": "uPA", "start": 63, "end": 66}], "disease": [{"text": "transitional cell carcinoma", "start": 128, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "uPA", "start": 63, "end": 66}, "tail": {"text": "transitional cell carcinoma", "start": 128, "end": 155}}]}}, "schema": []}
{"input": "This association may be more widely recognized if routine determinations of alpha-1-antitrypsin are performed on patients in whom neutrophilic, ulcerative panniculitis develops without specific, defined underlying causes.", "output": {"entities": {"gene": [{"text": "alpha-1-antitrypsin", "start": 76, "end": 95}], "disease": [{"text": "ulcerative", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders.", "output": {"entities": {"gene": [{"text": "XYLT1", "start": 16, "end": 21}], "disease": [{"text": "DBQD", "start": 35, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XYLT1", "start": 16, "end": 21}, "tail": {"text": "DBQD", "start": 35, "end": 39}}]}}, "schema": []}
{"input": "CONCLUSIONS: These data provide evidence that the rs2267668 A/G SNP in PPARD and the Gly482Ser SNP in PPARGC1A have both independent and additive effects on the effectiveness of aerobic exercise training to increase aerobic physical fitness and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 102, "end": 110}], "disease": [{"text": "insulin sensitivity", "start": 245, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "In addition to known HIF-1alpha target genes such as carbonic anhydrase 9, insulin-like growth factor binding protein-3 (IGFBP3) and cyclooxygenase (COX)-2, prostaglandin E synthase (PTGES) was identified as a novel target gene among the commonly upregulated genes in ESCC as well as the cells exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "COX", "start": 149, "end": 152}], "disease": [{"text": "hypoxia", "start": 305, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "Relative to asymptomatic controls, no significant differences were found for the distribution of mEH and GST polymorphic variants in cases with GERD, BE or EADC.", "output": {"entities": {"gene": [{"text": "GST", "start": 105, "end": 108}], "disease": [{"text": "asymptomatic", "start": 12, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "To determine whether MGBs exert beneficial effects during endotoxemia through attenuating tissue inflammation via interfering with HMGA1-DNA binding and modulating expression of adhesion molecules.", "output": {"entities": {"gene": [{"text": "HMGA1", "start": 131, "end": 136}], "disease": [{"text": "adhesion", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Role of FDFT1 polymorphism for fibrosis progression in patients with chronic hepatitis C.", "output": {"entities": {"gene": [{"text": "FDFT1", "start": 8, "end": 13}], "disease": [{"text": "fibrosis", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that IL-2-induced pulmonary edema is caused by direct interaction of IL-2 with functional IL-2 receptors (IL-2R) on lung endothelial cells in vivo.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 19, "end": 23}], "disease": [{"text": "pulmonary edema", "start": 32, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Hsp90alpha seems more relevant to the intrinsic aggressiveness of gastrointestinal stromal tumors, albeit less abundant than Hsp90beta.", "output": {"entities": {"gene": [{"text": "Hsp90alpha", "start": 0, "end": 10}], "disease": [{"text": "aggressiveness", "start": 48, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Combined inhibition of PDE3 and 4 regresses development of pulmonary hypertension and promotes endothelial regeneration by modulating the ADMA-DDAH axis.", "output": {"entities": {"gene": [{"text": "DDAH", "start": 143, "end": 147}], "disease": [{"text": "pulmonary hypertension", "start": 59, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Although certain genotypic effects could be population-specific, we conclude that there is no compelling evidence that the N363S polymorphism of the GRL gene is associated with either average BMI or obesity risk.", "output": {"entities": {"gene": [{"text": "GRL", "start": 149, "end": 152}], "disease": [{"text": "obesity", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "To explore whether the known NF-κB abnormalities in HaCaT cells could be related to this differential PRINS expression, we silenced the PRINS gene expression with small interfering RNA (siRNA) in both HaCaT cells and in NHKs and monitored NF-κB signal transduction after lipopolysaccharide (LPS) treatment.", "output": {"entities": {"gene": [{"text": "PRINS gene", "start": 136, "end": 146}], "disease": [{"text": "abnormalities", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Thus, inhibition of hepatic PGC-1beta may provide a therapy for treating combined hyperlipidemia.", "output": {"entities": {"gene": [{"text": "PGC", "start": 28, "end": 31}], "disease": [{"text": "hyperlipidemia", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Arginine starvation impairs mitochondrial respiratory function in ASS1-deficient breast cancer cells.", "output": {"entities": {"gene": [{"text": "ASS1", "start": 66, "end": 70}], "disease": [{"text": "breast cancer", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In addition to JAK2 mutations, several genetic abnormalities, including TET2 and polycomb group genes involving epigenetic regulation have been reported in patients with MPN.", "output": {"entities": {"gene": [{"text": "TET2", "start": 72, "end": 76}], "disease": [{"text": "abnormalities", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We conclude that expression of TBX22 is entirely consistent with the CPX phenotype and that the mouse should provide a useful model for elucidating its role in craniofacial development.", "output": {"entities": {"gene": [{"text": "TBX22", "start": 31, "end": 36}], "disease": [{"text": "CPX", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX22", "start": 31, "end": 36}, "tail": {"text": "CPX", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.", "output": {"entities": {"gene": [{"text": "MITF", "start": 65, "end": 69}], "disease": [{"text": "Tietz syndrome", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MITF", "start": 65, "end": 69}, "tail": {"text": "Tietz syndrome", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "Our results show that frequencies of p16 or cyclin D1 polymorphisms in gastric and esophageal ADC do not differ significantly from the healthy control group.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 44, "end": 53}], "disease": [{"text": "esophageal", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The patient showed slowly progressive cerebellar ataxia from 2 years of age, and MRI revealed atrophy of the cerebellum, oculomotor apraxia, mild cognitive impairment, writing dystonia, hypergonadotropic hypogonadism with primary amenorrhea, and hypersegmented neutrophils.", "output": {"entities": {"gene": [{"text": "MRI", "start": 81, "end": 84}], "disease": [{"text": "oculomotor apraxia", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Akt2 regulates all Akt isoforms and promotes resistance to hypoxia through induction of miR-21 upon oxygen deprivation.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 88, "end": 94}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In contrast to earlier findings with IL-8, the degree of ENA-78 mRNA upregulation was independent of the grade of activity of gastritis.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 57, "end": 63}], "disease": [{"text": "gastritis", "start": 126, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that individuals carrying the variant allele may be at high risk of gastric cancer, we identified the SULT1A1 Arg213His genotype by a PCR-based RFLP in a preliminary study of 76 gastric adenocarcinoma patients that underwent curative gastrectomy and 260 age and sex-matched controls from a medical centre in Rome.", "output": {"entities": {"gene": [{"text": "SULT1A1", "start": 125, "end": 132}], "disease": [{"text": "gastric adenocarcinoma", "start": 201, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry on normal and interstitial lung disease lung sections has confirmed IL-22 protein expression.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 89, "end": 94}], "disease": [{"text": "interstitial lung disease", "start": 35, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Thus, activation of EphB4 enhances EPC proangiogenic capacity through induction of PSGL-1 expression and adhesion to E selectin and P selectin.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 20, "end": 25}], "disease": [{"text": "adhesion", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that de novo defects in PHF6 in females result in a recognisable phenotype which might have been under-recognised so far and which comprises variable ID, a characteristic facial gestalt, hypoplastic nails, brachydactyly, clinodactyly mainly of fingers IV and V, dental anomalies, and linear skin hyperpigmentation.", "output": {"entities": {"gene": [{"text": "PHF6", "start": 46, "end": 50}], "disease": [{"text": "skin hyperpigmentation", "start": 313, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "The proliferative response of peripheral blood CD4 + T cells to recombinant hepatitis B core antigen (rHBcAg) has been studied in patients with chronic active hepatitis (CAH) type B (CAH-B), CAH-nonA nonB, and normal volunteers.", "output": {"entities": {"gene": [{"text": "CD4", "start": 47, "end": 50}], "disease": [{"text": "chronic active hepatitis", "start": 144, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We have shown that pro-inflammatory complement component 3 is increased by oxidative stress after ischemic stroke in mice using DNA array.", "output": {"entities": {"gene": [{"text": "complement component 3", "start": 36, "end": 58}], "disease": [{"text": "ischemic stroke", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Twenty four hours post-treatment, immunofluorescence staining with the anti-p120 monoclonal antibody showed reduced nucleolar protein p120 and translocation of the p120 protein from the nucleoli to the nucleoplasm.", "output": {"entities": {"gene": [{"text": "p120", "start": 76, "end": 80}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "It demonstrated that apoM expression was significantly positively correlated to the placental weight, fetal birth weight, pregestational body mass index (BMI), weight gain during pregnancy, maternal weight, maternal BMI and the mRNA levels of IGF-IR as well as IGF-IIR.", "output": {"entities": {"gene": [{"text": "IGF", "start": 243, "end": 246}], "disease": [{"text": "weight", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We retested all undetectable CMV viremia found in patients with CD4 < 50/mmc, by CMV PCR kit (Qiagen Diagnostics).", "output": {"entities": {"gene": [{"text": "CD4", "start": 64, "end": 67}], "disease": [{"text": "viremia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "A t (9; 22) (q22; q12), creating a fusion protein of EWSR1 and NR4A3, has been reported as a unique, recurring translocation in most cases.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 53, "end": 58}], "disease": [{"text": "translocation", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Two of the polyneuropathy patients with IgM amyloidosis had antibodies to MAG based on Western blot (WB) positivity.", "output": {"entities": {"gene": [{"text": "MAG", "start": 74, "end": 77}], "disease": [{"text": "amyloidosis", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Electron microscopy revealed basal laminar and linear deposits beneath the RPE layer, but we did not observe choroidal neovascularization (CNV).", "output": {"entities": {"gene": [{"text": "RPE", "start": 75, "end": 78}], "disease": [{"text": "choroidal neovascularization", "start": 109, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To analyze the p42. 3 gene expression in gastric cancer (GC) cell, find the relationship between protein structure and function, establish the regulatory network of p42. 3 protein molecule and then to obtain the optimal regulatory pathway.", "output": {"entities": {"gene": [{"text": "p42. 3", "start": 165, "end": 171}], "disease": [{"text": "gastric cancer", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Similarly, while the expression of HDACs1 and 2 were increased in cervical dysplasia and invasive carcinoma, HDAC2 expression showed a clear demarcation of high-intensity staining at the transition region of dysplasia compared to HDAC1.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 230, "end": 235}], "disease": [{"text": "invasive carcinoma", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "REN-19 is equivalent to LKB1/STK11, a gene that is defective in Peutz-Jeghers syndrome and cancer.", "output": {"entities": {"gene": [{"text": "REN", "start": 0, "end": 3}], "disease": [{"text": "cancer", "start": 91, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The classical hamartoma cases showed a vasculature predominantly composed of CD8 + CD31 + CD34-splenic sinuses, whereas cases of cord capillary hemangioma and myoid angioendothelioma contained many CD8-CD31 + CD34 + cord capillaries, but very little CD8 + vasculature.", "output": {"entities": {"gene": [{"text": "CD8", "start": 77, "end": 80}], "disease": [{"text": "capillary hemangioma", "start": 134, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Biallelic inactivation of BRCA2 leads to a defect in DNA repair and is associated with a chromosomal instability phenotype.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 26, "end": 31}], "disease": [{"text": "chromosomal instability", "start": 89, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, BRCA1 bound to the TWIST promoter, suppressing its activity and inhibiting EMT in mammary tumor cells.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 36, "end": 41}], "disease": [{"text": "mammary tumor", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that TGF-beta1 plays an important role in ECM production in the early phase of acute pancreatitis, and that MMP-2 is involved in the subsequent healing process.", "output": {"entities": {"gene": [{"text": "ECM", "start": 63, "end": 66}], "disease": [{"text": "acute pancreatitis", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Fenofibrate treatment significantly decreased serum RBP4 levels of dyslipidemic patients, which correlated with reduced body weight and increased insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 52, "end": 56}], "disease": [{"text": "insulin sensitivity", "start": 146, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We found that mice lacking CRTC1 associate neurobehavioral endophenotypes related to mood disorders.", "output": {"entities": {"gene": [{"text": "CRTC1", "start": 27, "end": 32}], "disease": [{"text": "mood disorders", "start": 85, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRTC1", "start": 27, "end": 32}, "tail": {"text": "mood disorders", "start": 85, "end": 99}}]}}, "schema": []}
{"input": "Taken together, these results indicate activation of the UPR plays an essential role in HIV PI-induced inflammatory cytokine synthesis and release by activating ERK, which increases the cytosolic translocation of HuR and subsequent binding to the 3' UTR of TNF-alpha and IL-6 mRNAs in macrophages.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 257, "end": 266}], "disease": [{"text": "translocation", "start": 196, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "We also found increased expression of HIF-1 & #945; and LDHA mRNA in MDD patients in a remissive state, whereas the mRNA expression levels of other genes in a remissive state were comparable to those in healthy control subjects.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 38, "end": 43}], "disease": [{"text": "MDD", "start": 69, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1", "start": 38, "end": 43}, "tail": {"text": "MDD", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "In order to further establish associations of these genes with mood disorders, we evaluated behavioral phenotypes in mice deficient in either Ambp/bikunin, which is necessary for functional ITIH1 and ITIH3 complexes, or in Itih4, the gene encoding the heavy chain Itih4.", "output": {"entities": {"gene": [{"text": "bikunin", "start": 147, "end": 154}], "disease": [{"text": "mood disorders", "start": 63, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bikunin", "start": 147, "end": 154}, "tail": {"text": "mood disorders", "start": 63, "end": 77}}]}}, "schema": []}
{"input": "In summary, these data identify an important functional role of c-Jun in the induction of cell cycle arrest and proliferation arrest of myeloid leukemia cells because of the ligation of the cell surface adhesion receptor CD44 by anti-CD44 antibody.", "output": {"entities": {"gene": [{"text": "CD44", "start": 221, "end": 225}], "disease": [{"text": "myeloid leukemia", "start": 136, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Predictors for PEGV response are baseline IGF1 levels, sex, body weight and previous radiotherapy.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 42, "end": 46}], "disease": [{"text": "body weight", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In comparison to normal individuals with homozygotes GG in MCP-2 SNP, women with GA or AA carried a 2. 01 odds ratio of developing cervical cancer.", "output": {"entities": {"gene": [{"text": "MCP-2", "start": 59, "end": 64}], "disease": [{"text": "cervical cancer", "start": 131, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "SEPP1 concentrations were positively associated with the risk of EA [hazard ratio (HR) = 3. 95, 95% confidence intervals (CI) = 1. 42-10. 97 comparing the third tertile with the first] and with aneuploidy (HR = 6. 53, 95% CI = 1. 31-32. 58), but not selenoenzyme activity or oxidative stress markers.", "output": {"entities": {"gene": [{"text": "SEPP1", "start": 0, "end": 5}], "disease": [{"text": "aneuploidy", "start": 194, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Our recent studies, based on the reported interrelationship between c-Myc and Sirt1 (mammalian orthologue of yeast sir2 [silent information regulator 2]) expression and their role in mitochondrial biogenesis and function, demonstrated a significant downregulation of Sirt1 protein expression and an upregulation of c-Myc following trauma-hemorrhage (T-H).", "output": {"entities": {"gene": [{"text": "Sirt1", "start": 78, "end": 83}], "disease": [{"text": "hemorrhage", "start": 338, "end": 348}]}, "relations": {}}, "schema": []}
{"input": "smoking and polymorphisms in the genes involved in the metabolism of genotoxic carcinogens (EPHX1, GSTA1, GSTM1, GSTP1, GSTT1, NAT1, NAT2 and NQO1) or DNA repair (APE1, NBS1, XPC, XPD, XRCC1, XRCC3 and XRCC4), could modify the association between telomere length and cancer risk.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 185, "end": 190}], "disease": [{"text": "smoking", "start": 0, "end": 7}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 25, "end": 30}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the relationship of demographic and clinicopathologic characteristics to Ki-ras mutation and p53 gene product overexpression in 1, 093 baseline sporadic colorectal adenomas from 926 individuals enrolled in a phase III recurrence prevention trial.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 106, "end": 114}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The data indicate that p53 induction following LPSE may activate downstream pro-apoptotic genes leading to neurodegeneration.", "output": {"entities": {"gene": [{"text": "p53", "start": 23, "end": 26}], "disease": [{"text": "neurodegeneration", "start": 107, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Prevalence of CXCR4 tropism among antiretroviral-treated HIV-1-infected patients with detectable viremia.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 14, "end": 19}], "disease": [{"text": "viremia", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Since the GHRH-GH-IGF-I axis has an important role in growth regulation, the growth retardation seen in experimental models of alcohol abuse may be a consequence at least in part of the suppressive effects of ethanol on this axis.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 18, "end": 23}], "disease": [{"text": "alcohol abuse", "start": 127, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-I", "start": 18, "end": 23}, "tail": {"text": "alcohol abuse", "start": 127, "end": 140}}]}}, "schema": []}
{"input": "Injection of mTNF resulted in clear bone resorption lacunae to the same extent observed after using hTNF in the TNFR2-deficient mice.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 112, "end": 117}], "disease": [{"text": "bone resorption", "start": 36, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In this study, we observed that the activation of the CB1 receptor, in two human mammary carcinoma cell lines, MDA-MB-231 and MCF7, caused the inhibition of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase activity due to a reduction of HMG-CoA reductase transcript levels.", "output": {"entities": {"gene": [{"text": "CB1 receptor", "start": 54, "end": 66}], "disease": [{"text": "human mammary carcinoma", "start": 75, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylated Y1357 is increased in HER2/neu (v-erb-b2 erythroblastic leukemia viral oncogene homolog 2) mammary tumor epithelia and is required to modulate AIB1/SRC-3 coactivation of estrogen receptor alpha (ERalpha), progesterone receptor B, NF-kappaB, and AP-1-dependent promoters.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 260, "end": 264}], "disease": [{"text": "mammary tumor", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that the gene expression of MASH-1, MATH-1, neuroD and NSCL-2 during neural differentiation in P19 cells is transient and the order is similar to that in the mouse embryo nervous system as previously reported.", "output": {"entities": {"gene": [{"text": "NSCL", "start": 76, "end": 80}], "disease": [{"text": "nervous system", "start": 192, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these findings demonstrate that mutations in DNAJC21 cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit.", "output": {"entities": {"gene": [{"text": "DNAJC21", "start": 59, "end": 66}], "disease": [{"text": "BMF", "start": 88, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNAJC21", "start": 59, "end": 66}, "tail": {"text": "BMF", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "The RAR-beta gene expression defects play an important role in the carcinogenesis of cervical cancer.", "output": {"entities": {"gene": [{"text": "RAR-beta", "start": 4, "end": 12}], "disease": [{"text": "cervical cancer", "start": 85, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAR-beta", "start": 4, "end": 12}, "tail": {"text": "cervical cancer", "start": 85, "end": 100}}]}}, "schema": []}
{"input": "Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocytomas attributable to paternally-transmitted mutations.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 108, "end": 112}], "disease": [{"text": "tumorigenesis", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Genetic epidemiologic data support a role for TLR4 in sporadic colorectal cancer (CRC) as well, with over-expression favoring more aggressive disease.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 46, "end": 50}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to screen for GBA mutations in progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), primary progressive aphasia (PPA) and the behavioural variant of frontotemporal dementia (bvFTD).", "output": {"entities": {"gene": [{"text": "CBS", "start": 117, "end": 120}], "disease": [{"text": "primary progressive aphasia", "start": 123, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We also evaluated the association between GSTs and NAT2 and the risk factors for gastric cancer such as alcohol consumption, smoking, H. pylori infection, family history of gastric cancer, and tumor location.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 51, "end": 55}], "disease": [{"text": "smoking", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a \" clinically normal \"-appearing father.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 52, "end": 57}], "disease": [{"text": "Crouzon syndrome", "start": 144, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 52, "end": 57}, "tail": {"text": "Crouzon syndrome", "start": 144, "end": 160}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the effect of aplasia ras homolog member I (ARHI) on proliferation, apoptosis and the cell cycle in the pancreatic cancer cell line PANC-1.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 85, "end": 89}], "disease": [{"text": "pancreatic cancer", "start": 145, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Rare somatic mutation of pro-apoptotic BAX and BAK genes in common human cancers.", "output": {"entities": {"gene": [{"text": "BAX", "start": 39, "end": 42}], "disease": [{"text": "somatic mutation", "start": 5, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We report a case of a small round blue cell tumor with characteristics of both Ewing sarcoma and DSRBCT with a t (11; 22) translocation leading to fusion of the EWS and FLI1genes.", "output": {"entities": {"gene": [{"text": "EWS", "start": 161, "end": 164}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom' s macroglobulinemia and related lymphoid neoplasms.", "output": {"entities": {"gene": [{"text": "MYD88", "start": 44, "end": 49}], "disease": [{"text": "somatic mutation", "start": 58, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "An atypical myeloproliferative disorder with t (8; 13) (p11; q12): a third case.", "output": {"entities": {"gene": [{"text": "p11", "start": 56, "end": 59}], "disease": [{"text": "myeloproliferative disorder", "start": 12, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the relationship of CAV-1 with Ki67 expression, a marker of proliferative capacity, in lung adenocarcinoma samples is suggestive of its role in disease progression.", "output": {"entities": {"gene": [{"text": "CAV", "start": 33, "end": 36}], "disease": [{"text": "lung adenocarcinoma", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The gene encoding ERRalpha (ESRRA) is located on chromosome 11q13, a region showing genetic linkage to body mass index and fat percentage.", "output": {"entities": {"gene": [{"text": "ESRRA", "start": 28, "end": 33}], "disease": [{"text": "body mass index", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Four children developed oliguria and hyperkalaemia during and after withdrawal of ACTH.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 82, "end": 86}], "disease": [{"text": "oliguria", "start": 24, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 82, "end": 86}, "tail": {"text": "oliguria", "start": 24, "end": 32}}]}}, "schema": []}
{"input": "This is the first report demonstrating that CHI3L1 is induced during fungal infection, where it acts as an immunomodulator to promote fungal clearance and to regulate antifungal innate immune responses in the cornea.", "output": {"entities": {"gene": [{"text": "CHI3L1", "start": 44, "end": 50}], "disease": [{"text": "fungal infection", "start": 69, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Given the proposed roles for Tim1 and Tim3 in type-1 and type-2 responses, we sought to determine whether these molecules were important in regulating antigen-driven lung allergy and inflammation.", "output": {"entities": {"gene": [{"text": "Tim3", "start": 38, "end": 42}], "disease": [{"text": "inflammation", "start": 183, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "While markers such as clusterin are expressed in all phenotypic SPEM lineages, distinct patterns of upregulated genes including CFTR are present in murine metaplasia associated with inflammation, indicative of progression of metaplasia towards a more intestinalised metaplastic phenotype.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 128, "end": 132}], "disease": [{"text": "metaplasia", "start": 155, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Advanced fibrosis, high HCV viral load, hepatovenous pressure gradient and pretreatment IP-10 > 400 pg/ml predicted NR to antiviral therapy.", "output": {"entities": {"gene": [{"text": "IP-10", "start": 88, "end": 93}], "disease": [{"text": "fibrosis", "start": 9, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The neuroprotective effects of bpv (pic) and PTEN AS-ODNs were significant in the CA1 subfield after transient global ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 82, "end": 85}], "disease": [{"text": "ischemia", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We retrospectively analyzed data of 280 single copy MYCN stage 2 and 3 neuroblastoma patients with gross residual tumor after initial surgery.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 52, "end": 56}], "disease": [{"text": "residual tumor", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Transcriptional profiles of SHH pathway genes in keratocystic odontogenic tumor and ameloblastoma.", "output": {"entities": {"gene": [{"text": "SHH", "start": 28, "end": 31}], "disease": [{"text": "keratocystic odontogenic tumor", "start": 49, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Physical association of HDAC1 and HDAC2 with p63 mediates transcriptional repression and tumor maintenance in squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 24, "end": 29}], "disease": [{"text": "squamous cell carcinoma", "start": 110, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC1", "start": 24, "end": 29}, "tail": {"text": "squamous cell carcinoma", "start": 110, "end": 133}}]}}, "schema": []}
{"input": "Based on this biology, we engineered an ASMase-producing vector consisting of a modified pre-proendothelin-1 promoter, PPE1 (3x), and a hypoxia-inducible dual-binding HIF-2α-Ets-1 enhancer element upstream of the asmase gene, inserted into a replication-deficient adenovirus yielding the vector Ad5H2E-PPE1 (3x)-ASMase.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 174, "end": 179}], "disease": [{"text": "hypoxia", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 90, "end": 94}], "disease": [{"text": "Marfan syndrome", "start": 130, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 90, "end": 94}, "tail": {"text": "Marfan syndrome", "start": 130, "end": 145}}]}}, "schema": []}
{"input": "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", "output": {"entities": {"gene": [{"text": "SETBP1", "start": 21, "end": 27}], "disease": [{"text": "Schinzel-Giedion syndrome", "start": 34, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SETBP1", "start": 21, "end": 27}, "tail": {"text": "Schinzel-Giedion syndrome", "start": 34, "end": 59}}]}}, "schema": []}
{"input": "Erk-dependent phosphorylation leads to TSC1-TSC2 dissociation and markedly impairs TSC2 ability to inhibit mTOR signaling, cell proliferation, and oncogenic transformation.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 44, "end": 48}], "disease": [{"text": "dissociation", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Although hepatic fibrosis was more severe in post-hepatitis cirrhosis, EMT of BECs was more widespread in hepatolithiasis.", "output": {"entities": {"gene": [{"text": "EMT", "start": 71, "end": 74}], "disease": [{"text": "hepatolithiasis", "start": 106, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly perforin deficiency does not prevent diabetes in CD8 (+) T-cell receptor transgenic NOD8. 3 mice.", "output": {"entities": {"gene": [{"text": "NOD8", "start": 97, "end": 101}], "disease": [{"text": "perforin deficiency", "start": 13, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Stress ulceration should be associated with increased heat-shock gene (iHSP70) and an inhibition of the trefoil peptide, spasmolytic polypeptide (SP), and mucin (MUC5AC) gene expressions.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 162, "end": 168}], "disease": [{"text": "shock", "start": 59, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "To demonstrate the applicability of this approach, we have examined these IGH polymorphisms in families with individuals affected with pemphigus vulgaris (PV), an autoimmune dermatologic disease.", "output": {"entities": {"gene": [{"text": "IGH", "start": 74, "end": 77}], "disease": [{"text": "pemphigus vulgaris", "start": 135, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Notably, retrospective analyses of microarray expression data reveal elevated expression of RAD51 and two of its late-acting cofactors, RAD54 and RAD51AP1, in BRCA1-deficient versus sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "RAD51AP1", "start": 146, "end": 154}], "disease": [{"text": "breast tumors", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "We recently demonstrated that functional endoglin was expressed at half levels on human umbilical vein endothelial cells (HUVECs) and peripheral blood activated monocytes from HHT1 patients.", "output": {"entities": {"gene": [{"text": "endoglin", "start": 41, "end": 49}], "disease": [{"text": "HHT1", "start": 176, "end": 180}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "endoglin", "start": 41, "end": 49}, "tail": {"text": "HHT1", "start": 176, "end": 180}}]}}, "schema": []}
{"input": "To better understand the molecular mechanisms behind esophageal adenocarcinoma (EAC) tumorigenesis, we used high-density single nucleotide polymorphism arrays to profile chromosomal aberrations at each of the four sequential progression stages, Barrett' s metaplasia (BM), low-grade dysplasia (LGD), high-grade dysplasia (HGD), and EAC, in 101 patients.", "output": {"entities": {"gene": [{"text": "HGD", "start": 322, "end": 325}], "disease": [{"text": "chromosomal aberrations", "start": 170, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "However, the issue is relevant, given the immunomodulatory effects of DBP and the role of protracted innate immune-related inflammation in response to tissue injury or repeated infection.", "output": {"entities": {"gene": [{"text": "DBP", "start": 70, "end": 73}], "disease": [{"text": "inflammation", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "SCFAs in concentrations present in cystic fibrosis airways (0. 5-2. 5 mM) affected the release of granulocyte-macrophage colony-stimulating factor, granulocyte colony-stimulating factor and interleukin (IL)-6.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 148, "end": 185}], "disease": [{"text": "cystic fibrosis", "start": 35, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "This translocation fuses a putative repressor domain from the TEL DNA-binding protein to nearly all of the AML-1B transcription factor.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 66, "end": 85}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the miR-21 induction by Akt2 during hypoxia depends upon the binding of NF-κB, cAMP responsive element-binding protein (CREB), and CBP/p300 to the miR-21 promoter, in addition to the regional acetylation of histone H3K9, all of which are under the control of Akt2.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 17, "end": 23}], "disease": [{"text": "hypoxia", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Agonism of peroxisome proliferator-activated receptor (PPAR) alpha, a key regulator of lipid metabolism, leads to amelioration of lipid abnormalities in dyslipidemic patients.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 55, "end": 59}], "disease": [{"text": "abnormalities", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "NSA2 levels were the only variable that showed a significant difference between patients with albuminuria (DN-A) compared with non-albuminuric patients (DN-NA) and diabetic controls (p < 0. 05), this increase being independent of all other variables, including GFR.", "output": {"entities": {"gene": [{"text": "GFR", "start": 261, "end": 264}], "disease": [{"text": "albuminuria", "start": 94, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Haplotype 5 was associated with higher SHBG and lower free T. Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 79, "end": 84}], "disease": [{"text": "insulin resistance", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The interleukin (IL) 4/IL13 pathway is involved in the regulation of IgE production associated with atopic diseases.", "output": {"entities": {"gene": [{"text": "IL13", "start": 23, "end": 27}], "disease": [{"text": "atopic", "start": 100, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Increased hemorrhage and brain edema that correlated with higher mortality and neurologic deficits were found in MMP-9-knockout mice.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 113, "end": 118}], "disease": [{"text": "brain edema", "start": 25, "end": 36}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MMP-9", "start": 113, "end": 118}, "tail": {"text": "brain edema", "start": 25, "end": 36}}]}}, "schema": []}
{"input": "Combining the genetic marker TNFSF15 with ASCA IgA increased the power of predicting stenosis/perforating phenotype in CD patients with TNFSF15 but not with a NOD2 genetic background.", "output": {"entities": {"gene": [{"text": "TNFSF15", "start": 29, "end": 36}], "disease": [{"text": "stenosis", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "ARHGEF10", "start": 94, "end": 102}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGEF10", "start": 94, "end": 102}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "The downregulation of ANP and NPRC in retinas of diabetic rats suggests a role for this peptide in experimental diabetic retinopathy.", "output": {"entities": {"gene": [{"text": "ANP", "start": 22, "end": 25}], "disease": [{"text": "diabetic retinopathy", "start": 112, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In the hypertensive group, we found enhanced monocyte expression of CD11a (P < 0. 001), reduced expression of CD49d (P < 0. 001) and CD62L (P < 0. 005), greater oxidative stress in resting and phorbol-12-mistrate-13-acetate-stimulated monocytes (P < 0. 001), enhanced adhesion of monocytes to endothelial cells (P < 0. 001), greater expression of CD36 on monocyte-derived macrophages (P < 0. 001), and enhanced production of reactive oxygen species by resting and phorbol-12-mistrate-13-acetate-stimulated macrophages (P < 0. 001).", "output": {"entities": {"gene": [{"text": "CD11a", "start": 68, "end": 73}], "disease": [{"text": "adhesion", "start": 268, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age two mutations (c. 354_355insC (p. W118fsX12) and c. 736T & gt; C (p. W246R)) were detected on his SLC37A4 gene.", "output": {"entities": {"gene": [{"text": "SLC37A4", "start": 220, "end": 227}], "disease": [{"text": "GSD Ib", "start": 74, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC37A4", "start": 220, "end": 227}, "tail": {"text": "GSD Ib", "start": 74, "end": 80}}]}}, "schema": []}
{"input": "Mechanistically, cGMP in airway cells accumulated after sildenafil treatment because of interfering phosphodiesterase Type 5, and subsequently cGMP activated HIF-mediated hypoxic signaling by stimulating the phosphoinositide 3-kinase (PI3K)-v-akt murine thymoma viral oncogene homolog 1 (AKT)-mammalian target of rapamycin (mTOR) pathway.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 293, "end": 322}], "disease": [{"text": "hypoxic", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "NOBOX (newborn ovary homeobox gene) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis and represents a candidate gene for nonsyndromic ovarian failure.", "output": {"entities": {"gene": [{"text": "NOBOX", "start": 0, "end": 5}], "disease": [{"text": "ovarian failure", "start": 174, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The full-length regucalcin protein was found to be highly expressed in normal human liver and kidney tissues; its expression was suppressed, however, in the liver and kidney tumor tissues.", "output": {"entities": {"gene": [{"text": "regucalcin", "start": 16, "end": 26}], "disease": [{"text": "kidney tumor", "start": 167, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In the PhIP-induced colon tumors obtained after 1 year, Nox1, Nox4, NF & #954; B-p50 and NF & #954; B-p65 were all highly overexpressed compared with their levels in adjacent normal-looking colonic mucosa.", "output": {"entities": {"gene": [{"text": "Nox1", "start": 56, "end": 60}], "disease": [{"text": "colon tumors", "start": 20, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nox1", "start": 56, "end": 60}, "tail": {"text": "colon tumors", "start": 20, "end": 32}}]}}, "schema": []}
{"input": "Conclusively, we show for the first time that GCLC may serve a dual role, as a surrogate marker for cellular redox state as well as malignant potential of melanoma cells.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 46, "end": 50}], "disease": [{"text": "melanoma", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found.", "output": {"entities": {"gene": [{"text": "ASPA", "start": 26, "end": 30}], "disease": [{"text": "Canavan disease", "start": 90, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASPA", "start": 26, "end": 30}, "tail": {"text": "Canavan disease", "start": 90, "end": 105}}]}}, "schema": []}
{"input": "From a previously ranked microarray of hypoxia-inducible genes related to hepatocellular carcinoma, we focused on a histone H3 lysine 9 demethylase, known as Jumonji domain containing 1A.", "output": {"entities": {"gene": [{"text": "Jumonji", "start": 158, "end": 165}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Obese subjects with elevated TNF-a levels, and carriers of polymorphisms in or near TNFA are particularly susceptible to the hazards of smoking, results which may have implications for cardiovascular preventive measures.", "output": {"entities": {"gene": [{"text": "TNFA", "start": 84, "end": 88}], "disease": [{"text": "smoking", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Numerous recent studies have recognized the importance of a cutaneous CCS variant that can mimic a broad spectrum of entities, including spindle cell melanoma, spindle cell squamous carcinoma, cutaneous leiomyosarcoma and atypical fibroxanthoma.", "output": {"entities": {"gene": [{"text": "CCS", "start": 70, "end": 73}], "disease": [{"text": "atypical fibroxanthoma", "start": 222, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Absent immuno-expression of LDH-B protein (& lt; 10% cells stained), was seen in 23/26 (88%) breast cancer cases, and in 4/8 cases of adjacent ductal carcinoma in situ lesions.", "output": {"entities": {"gene": [{"text": "LDH-B", "start": 28, "end": 33}], "disease": [{"text": "breast cancer", "start": 93, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LDH-B", "start": 28, "end": 33}, "tail": {"text": "breast cancer", "start": 93, "end": 106}}]}}, "schema": []}
{"input": "However, after eradication a chronic low-grade inflammation was seen with reduced Th1, prolonged Th2 and disappearance of the T-regulatory response.", "output": {"entities": {"gene": [{"text": "Th1", "start": 82, "end": 85}], "disease": [{"text": "inflammation", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "To address this, we employed H1299 lung cancer cells engineered for tetracycline-inducible overexpression of the post-transcriptional regulator iron regulatory protein 1 (IRP1).", "output": {"entities": {"gene": [{"text": "IRP1", "start": 171, "end": 175}], "disease": [{"text": "lung cancer", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We have evaluated the Xpert MTB/RIF assay for the diagnosis of Mycobacterium tuberculosis bacteremia and investigated its impact on clinical outcomes.", "output": {"entities": {"gene": [{"text": "RIF", "start": 32, "end": 35}], "disease": [{"text": "bacteremia", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 19, "end": 24}], "disease": [{"text": "familial HDL deficiency", "start": 74, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 19, "end": 24}, "tail": {"text": "familial HDL deficiency", "start": 74, "end": 97}}]}}, "schema": []}
{"input": "CSF1 and IL-34 strongly reduced excitotoxin-induced neuronal cell loss and gliosis in wild-type mice when administered systemically before or up to 6 h after injury.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 0, "end": 4}], "disease": [{"text": "gliosis", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 21, "end": 40}], "disease": [{"text": "schizophrenia", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "By administration of anti-CD3 Abs, we demonstrated that this early response was linked to the marked T lymphocyte lung infiltration and to the overproduction of the proinflammatory mediators such as TNF-alpha, IFN-gamma, and NO in IL-4 (-/-) mice.", "output": {"entities": {"gene": [{"text": "IFN", "start": 210, "end": 213}], "disease": [{"text": "lung infiltration", "start": 114, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation.", "output": {"entities": {"gene": [{"text": "GNAS", "start": 48, "end": 52}], "disease": [{"text": "body weight", "start": 155, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Two continuous lines, BL-MaTU/A1 and BL-MaTU/s6, were established from C57Bl/10 mammary adenocarcinomas induced by DMBA-prolactin-estradiol treatment.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 120, "end": 129}], "disease": [{"text": "adenocarcinomas", "start": 88, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin", "start": 120, "end": 129}, "tail": {"text": "adenocarcinomas", "start": 88, "end": 103}}]}}, "schema": []}
{"input": "Little is known regarding the association of VKORC1 polymorphisms with coronary artery calcification (CAC) and the role of CAC in the association with coronary artery disease (CAD).", "output": {"entities": {"gene": [{"text": "CAC", "start": 102, "end": 105}], "disease": [{"text": "coronary artery calcification", "start": 71, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "These findings provide the first genetic evidence for the role of BLVRA on the susceptibility to human essential hypertension and blood pressure.", "output": {"entities": {"gene": [{"text": "BLVRA", "start": 66, "end": 71}], "disease": [{"text": "blood pressure", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.", "output": {"entities": {"gene": [{"text": "GDF5", "start": 58, "end": 62}], "disease": [{"text": "brachydactyly type C", "start": 126, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF5", "start": 58, "end": 62}, "tail": {"text": "brachydactyly type C", "start": 126, "end": 146}}]}}, "schema": []}
{"input": "MARCKS overexpression induced a higher percentage of cells in the G0-G1 phase of the cell cycle upon serum starvation, as well as the inhibition of colony formation in soft agar.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 0, "end": 6}], "disease": [{"text": "starvation", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The transcription of genes for fucosyltransferase VII (FUT7), sialyltransferase ST3Gal-I (ST3O), and UDP-galactose transporter-1 (UGT1), which are all known to be involved in the synthesis of the carbohydrate ligands for E-selectin, was significantly induced in cancer cells by hypoxic culture.", "output": {"entities": {"gene": [{"text": "UGT1", "start": 130, "end": 134}], "disease": [{"text": "hypoxic", "start": 278, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Accumulation of mutant ATN1 that carries an expanded polyQ tract seems to be the primary cause of DRPLA neurodegeneration, but it is still unclear how the accumulation of ATN1 leads to neu-rodegeneration.", "output": {"entities": {"gene": [{"text": "ATN1", "start": 23, "end": 27}], "disease": [{"text": "neurodegeneration", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We observed that male carriers of the L-FABP A94 allele had significantly higher body weight (P = 0. 012), higher body mass index (BMI) (P = 0. 014), and higher plasma triacylglycerol levels (TAG) (P = 0. 033) and lower ratios of high-density lipoprotein cholesterol (HDL-C) to total cholesterol (TC) (P = 0. 008) than T94 homozygotes.", "output": {"entities": {"gene": [{"text": "L-FABP", "start": 38, "end": 44}], "disease": [{"text": "body weight", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The fact that CX (3) CL1-CX (3) CR1 interactions confer an essential survival signal, whose absence leads to increased death of monocytes and/or foam cells, might provide a mechanistic explanation for the role of the CX (3) C chemokine family in atherogenesis.", "output": {"entities": {"gene": [{"text": "CL1", "start": 21, "end": 24}], "disease": [{"text": "foam cells", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "A search was made for mutations at the A9 tract in exon 17, an allelic loss at the EPHB2 gene locus, and promoter hypermethylation of the EPHB2 gene in 81 sporadic gastric cancers in order to determine if genetic or epigenetic alterations of the EPHB2 gene are involved in the development and/or progression of gastric cancer.", "output": {"entities": {"gene": [{"text": "EPHB2 gene", "start": 83, "end": 93}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Discontinuation of therapy resulted in a rapid increase of sCD27 plasma levels associated with viraemia rebound and drop in CD4 + T cell count.", "output": {"entities": {"gene": [{"text": "CD4", "start": 124, "end": 127}], "disease": [{"text": "viraemia", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Serum IL-4 levels of heterozygote and mutant homozygote carriers in the mild, moderate, and severe groups were higher than wild homozygote carriers in those three groups and the control group (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 6, "end": 10}], "disease": [{"text": "mild", "start": 72, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis of aberrant signaling in the PI3K/AKT/mTOR pathway in ameloblastomas may represent a valuable tool for elucidating pathogenesis, aggressiveness and selecting optimal therapeutics.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 58, "end": 62}], "disease": [{"text": "aggressiveness", "start": 158, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "To assess a potential association between genetic variants in the KATNB1 gene and infertile men with OAT, we performed direct sequencing of genomic DNA samples from 100 OAT infertile and 100 proven fertile men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 101, "end": 104}], "disease": [{"text": "infertile", "start": 82, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Whole-exome sequencing of two children from a consanguineous family with pyridoxine-dependent epilepsy revealed a homozygous nonsense mutation in proline synthetase co-transcribed homolog (bacterial), PROSC, which encodes a PLP-binding protein of hitherto unknown function.", "output": {"entities": {"gene": [{"text": "PROSC", "start": 201, "end": 206}], "disease": [{"text": "pyridoxine-dependent epilepsy", "start": 73, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PROSC", "start": 201, "end": 206}, "tail": {"text": "pyridoxine-dependent epilepsy", "start": 73, "end": 102}}]}}, "schema": []}
{"input": "Additionally, we found that PDHA1 and the PDC activator pyruvate dehydrogenase phosphatase 1 (PDP1) are frequently amplified and overexpressed at both the gene and protein levels in prostate tumors.", "output": {"entities": {"gene": [{"text": "PDP1", "start": 94, "end": 98}], "disease": [{"text": "prostate tumors", "start": 182, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDP1", "start": 94, "end": 98}, "tail": {"text": "prostate tumors", "start": 182, "end": 197}}]}}, "schema": []}
{"input": "Herein we describe the effects of morphine on gene expression of the alpha-and beta-chemokines and their receptors by the astrocytoma cell line U87 and by primary normal human astrocyte (NHA) cultures.", "output": {"entities": {"gene": [{"text": "U87", "start": 144, "end": 147}], "disease": [{"text": "astrocytoma", "start": 122, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that the tumor suppressor Tid1 forms a complex with p53 under hypoxic conditions that directs p53 translocation to the mitochondria and the subsequent initiation of the mitochondrial apoptosis pathway.", "output": {"entities": {"gene": [{"text": "Tid1", "start": 49, "end": 53}], "disease": [{"text": "hypoxic", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the potential role of AHR signaling in the development of left ventricular hypertrophy and cardiac fibrosis by angiotensin II (Ang II) infusion was investigated in mice lacking the AHR gene (Ahr & lt; sup & gt;-/-& lt;/sup & gt;).", "output": {"entities": {"gene": [{"text": "AHR", "start": 44, "end": 47}], "disease": [{"text": "left ventricular hypertrophy", "start": 80, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 44, "end": 47}, "tail": {"text": "left ventricular hypertrophy", "start": 80, "end": 108}}]}}, "schema": []}
{"input": "Reverse transcriptase (RT)-PCR with primers specific for surfactant protein A (SP-A), B (SP-B), C (SP-C), and D (SP-D) genes was applied to detect metastatic non-small cell lung carcinomas.", "output": {"entities": {"gene": [{"text": "SP-B", "start": 89, "end": 93}], "disease": [{"text": "carcinomas", "start": 178, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Recent studies demonstrate that the neuropeptide VGF (nonacronymic) is regulated in the hippocampus by antidepressant therapies and animal models of depression and that acute VGF treatment has antidepressant-like activity in animal paradigms.", "output": {"entities": {"gene": [{"text": "VGF", "start": 49, "end": 52}], "disease": [{"text": "depression", "start": 149, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGF", "start": 49, "end": 52}, "tail": {"text": "depression", "start": 149, "end": 159}}]}}, "schema": []}
{"input": "To evaluate this possibility, we examined quantitative and qualitative aspects of NF1 gene expression in six sporadic pilocytic astrocytomas.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 82, "end": 90}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "ACTH revisited: effective treatment for acute crystal induced synovitis in patients with multiple medical problems.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 0, "end": 4}], "disease": [{"text": "synovitis", "start": 62, "end": 71}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 0, "end": 4}, "tail": {"text": "synovitis", "start": 62, "end": 71}}]}}, "schema": []}
{"input": "Analysis of 84 genes, which are associated with oxidative stress and antioxidant defense, showed that 7 genes were significantly and differentially regulated, namely BCL2/adenovirus E1B 19kD-interacting protein 3 (BNIP3), 24-dehydrocholesterol reduc-tase (DHCR24), dual specificity phosphatase 1 (DUSP1), forkhead box M1 (FOXM1), nudix-type motif 1 (NUDT1), prostaglandin-endoperoxide synthase 2 (PTGS2), and scavenger receptor class A, member 3 (SCARA3).", "output": {"entities": {"gene": [{"text": "DUSP1", "start": 297, "end": 302}], "disease": [{"text": "adenovirus", "start": 171, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We found that a single nucleotide polymorphism in the CAMK4 promoter was significantly associated with cocaine addiction, whereas variations in the CREB promoter regions did not correlate with drug abuse.", "output": {"entities": {"gene": [{"text": "CAMK4", "start": 54, "end": 59}], "disease": [{"text": "drug abuse", "start": 193, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "SSCV analysis proved an effective and sensitive method for the detection of menin mutations providing a reliable genetic screening approach supporting genetic counseling and clinical management of MEN1 family members.", "output": {"entities": {"gene": [{"text": "menin", "start": 76, "end": 81}], "disease": [{"text": "MEN1", "start": 197, "end": 201}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "menin", "start": 76, "end": 81}, "tail": {"text": "MEN1", "start": 197, "end": 201}}]}}, "schema": []}
{"input": "Furthermore, recombinant GPNMB also decreased infarction volume.", "output": {"entities": {"gene": [{"text": "GPNMB", "start": 25, "end": 30}], "disease": [{"text": "infarction", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.", "output": {"entities": {"gene": [{"text": "xanthine dehydrogenase", "start": 27, "end": 49}], "disease": [{"text": "classical xanthinuria", "start": 100, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "xanthine dehydrogenase", "start": 27, "end": 49}, "tail": {"text": "classical xanthinuria", "start": 100, "end": 121}}]}}, "schema": []}
{"input": "We have carried out a study on BRCA1 and BRCA2 along with p53 gene mutations in both sporadic as well as familial breast cancer patients from India where breast cancer is fast emerging as a major cancer among premenopausal urban women.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 41, "end": 46}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Increased IGF-I levels correlated with increased growth, tumor extent, and aggressiveness.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 10, "end": 15}], "disease": [{"text": "aggressiveness", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Thus, combined GDNF-Sinemet treatment could be of therapeutic value in treating parkinsonism, by producing a greater functional response and by mitigating adverse responses to Sinemet treatment.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 15, "end": 19}], "disease": [{"text": "parkinsonism", "start": 80, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GDNF", "start": 15, "end": 19}, "tail": {"text": "parkinsonism", "start": 80, "end": 92}}]}}, "schema": []}
{"input": "We found that the PGC-1alpha and/or PGC-1beta expression improved mitochondrial respiration in cells harboring a complex III or IV deficiency as well as in transmitochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stroke A3243G tRNA ((Leu) UUR) gene mutation.", "output": {"entities": {"gene": [{"text": "PGC", "start": 18, "end": 21}], "disease": [{"text": "stroke", "start": 245, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "The frequency of complete AZF deletions was similar in idiopathic (13. 3%) and cryptorchid men (11. 6%), but partial DAZ deletions were found only in infertile subjects without cryptorchidism (7. 1%).", "output": {"entities": {"gene": [{"text": "DAZ", "start": 117, "end": 120}], "disease": [{"text": "infertile", "start": 150, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The LPA-induced FLS motility and cytokine production are suppressed by LPA (1/3) receptor antagonists diacylglycerol pyrophosphate and (S)-phosphoric acid mono-(2-octadec-9-enoylamino-3-[4-(pyridine-2-ylmethoxy)-phenyl]-propyl) ester (VPC32183).", "output": {"entities": {"gene": [{"text": "LPA", "start": 4, "end": 7}], "disease": [{"text": "mono", "start": 155, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Low PTPN6 promoter methylation correlated to protein expression, and the protein expression was increased upon demethylation in glioma-derived cells.", "output": {"entities": {"gene": [{"text": "PTPN6", "start": 4, "end": 9}], "disease": [{"text": "glioma", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Haploinsufficiency for human EYA1, a homologue of the Drosophila melanogaster gene eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR) syndrome and branchio-oto (BO) syndrome, which are characterized by craniofacial abnormalities and hearing loss with (BOR) or without (BO) kidney defects.", "output": {"entities": {"gene": [{"text": "EYA1", "start": 29, "end": 33}], "disease": [{"text": "craniofacial abnormalities", "start": 241, "end": 267}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EYA1", "start": 29, "end": 33}, "tail": {"text": "craniofacial abnormalities", "start": 241, "end": 267}}]}}, "schema": []}
{"input": "We identified a haplotype set (rs591758-rs668514-rs647126-rs1800006, spanning the UCP2-UCP3 intergenic and UCP3 regions) as significantly associated with greater type 2 diabetes risk (nominal P = 0. 0011, permutation P = 0. 046) in Caucasian women, especially among overweight Caucasians (BMI > 25 kg/m (2)) (nominal P = 0. 0006, permutation P = 0. 032).", "output": {"entities": {"gene": [{"text": "UCP3", "start": 87, "end": 91}], "disease": [{"text": "overweight", "start": 266, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "In three cases, transmission was to an only son, but in the fourth case a Y chromosome, shown to be deleted for all copies of DAZ, was transmitted from a father to his four infertile sons.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 126, "end": 129}], "disease": [{"text": "infertile", "start": 173, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, this is the first demonstration of (i) recombinant IL-4 reducing glomerular inflammation in vivo and (ii) a treatment that increases IL-1RTII expression in association with reduction of tissue injury in vivo.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 69, "end": 73}], "disease": [{"text": "inflammation", "start": 94, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Tumor necrosis factors (TNFs) and heat shock protein 70 (hsp70) are determining factors in immunologic mechanisms to tumor cells.", "output": {"entities": {"gene": [{"text": "hsp70", "start": 57, "end": 62}], "disease": [{"text": "shock", "start": 39, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Expression of ENG, ALK-1 and phosphorylated SMAD1/5, but not ALK-5 or phosphorylated SMAD3, was significantly increased in hypoxic endothelial cells in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "ALK-5", "start": 61, "end": 66}], "disease": [{"text": "hypoxic", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "KCNJ11 should be considered as the etiology of diabetes even beyond the neonatal period if present in combination with negative autoantibody testing and even mild neurological symptoms.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 0, "end": 6}], "disease": [{"text": "mild", "start": 158, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The early development of a cross-linked matrix around ductal breast carcinoma suggests a possible bost defense mechanism, whereas the synchronous or late stromal reaction lacking lysyl oxidase favors tumor dispersion.", "output": {"entities": {"gene": [{"text": "lysyl oxidase", "start": 179, "end": 192}], "disease": [{"text": "ductal breast carcinoma", "start": 54, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Since several pathophysiological phenomena are common for both ischemia and seizures, we have explored the effect of acute and chronic administration of the adenosine A3 receptor selective agonist IB-MECA (N6-(3-iodobenzyl) adenosine-5'-N-methylcarboxamide) prior to seizures induced by N-methyl-D-aspartate (NMDA), pentamethylenetetrazole, or electric shock.", "output": {"entities": {"gene": [{"text": "adenosine A3 receptor", "start": 157, "end": 178}], "disease": [{"text": "ischemia", "start": 63, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "adenosine A3 receptor", "start": 157, "end": 178}, "tail": {"text": "ischemia", "start": 63, "end": 71}}]}}, "schema": []}
{"input": "To assess whether the mRNA levels of adiponectin and its receptors (ADIPOR1 and ADIPOR2) might show daily circadian rhythms in visceral and sc fat explants obtained from morbid obese women, visceral and sc abdominal AT biopsies (n = 6) were obtained from morbidly obese women (body mass index > or = 40 kg/m (2)).", "output": {"entities": {"gene": [{"text": "ADIPOR1", "start": 68, "end": 75}], "disease": [{"text": "circadian rhythms", "start": 106, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The MPZ Thr124Met mutation is characterised by a late onset, pupillary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 4, "end": 7}], "disease": [{"text": "deafness", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "There is confusion in the literature concerning disorders caused by EBP (emopamil-binding protein) mutations in males.", "output": {"entities": {"gene": [{"text": "emopamil-binding protein", "start": 73, "end": 97}], "disease": [{"text": "confusion", "start": 9, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Compared with anti-AQP4 antibody-negative CMS patients, anti-AQP4 antibody-positive MS patients showed significantly higher frequencies of severe optic neuritis, acute transverse myelitis and LESCLs while most conditions were also common to anti-AQP4 antibody-negative OSMS patients.", "output": {"entities": {"gene": [{"text": "CMS", "start": 42, "end": 45}], "disease": [{"text": "optic neuritis", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our results suggest that the NAT2 slow acetylator, in particular, the NAT2 slow acetylator combined with smoking, are associated with an increased bladder cancer risk.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 44, "end": 48}], "disease": [{"text": "smoking", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil CD18 silencing resulted in neutrophilia, splenomegaly, and significant defects in neutrophil trafficking with the degree of alterations correlating with the extent of CD18 silencing.", "output": {"entities": {"gene": [{"text": "CD18", "start": 11, "end": 15}], "disease": [{"text": "neutrophilia", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "HRG treatment induced a profound alteration in the cell morphology in which cells displayed neuron-like membrane extensions that contained Rab3A-coated, vesicle-like structures.", "output": {"entities": {"gene": [{"text": "HRG", "start": 0, "end": 3}], "disease": [{"text": "vesicle", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We have found significantly elevated c-MYC gene expression in cholesteatoma compared to atheroma and to normal skin samples.", "output": {"entities": {"gene": [{"text": "MYC gene", "start": 39, "end": 47}], "disease": [{"text": "atheroma", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of Plk1 by an adenovirus encoding for a short hairpin RNA against Plk1 or by the small-molecule inhibitor BI 2536 reduced the viability of HCC cell lines and inhibited HCC xenograft progression in nude mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 150, "end": 153}], "disease": [{"text": "adenovirus", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "B-cell CCL/lymphoma 2 (BCL2)-like 1 (BCL2L1) exhibited significant upregulation, while BCL2 showed partial derepression in PDAM-silenced cells after cisplatin treatment, suggesting that alteration of anti-apoptotic genes contributed in part to cisplatin resistance.", "output": {"entities": {"gene": [{"text": "PDAM", "start": 123, "end": 127}], "disease": [{"text": "lymphoma", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "This work shows miR-297 as a novel and physiologic regulator of cancer cell survival, largely through targeting of DGK-α, and also indicates that hypoxia ameliorates miR-297 toxicity to cancer cells.", "output": {"entities": {"gene": [{"text": "DGK-α", "start": 115, "end": 120}], "disease": [{"text": "hypoxia", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "De novo mutations in MLL cause Wiedemann-Steiner syndrome.", "output": {"entities": {"gene": [{"text": "MLL", "start": 21, "end": 24}], "disease": [{"text": "Wiedemann-Steiner syndrome", "start": 31, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLL", "start": 21, "end": 24}, "tail": {"text": "Wiedemann-Steiner syndrome", "start": 31, "end": 57}}]}}, "schema": []}
{"input": "Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).", "output": {"entities": {"gene": [{"text": "PAX2", "start": 56, "end": 60}], "disease": [{"text": "renal-coloboma syndrome", "start": 97, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX2", "start": 56, "end": 60}, "tail": {"text": "renal-coloboma syndrome", "start": 97, "end": 120}}]}}, "schema": []}
{"input": "The higher serum levels of IL-6 in children with idiopathic osteoporosis/osteopenia and the decrease in IL-6sR after treatment reveal an involvement of IL-6 in the etiopathogenesis of these disturbances.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 27, "end": 31}], "disease": [{"text": "idiopathic osteoporosis", "start": 49, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Functional analysis of the mutations in MYCN, PTPN14 and LATS1 suggested their potential relevance in BCC tumorigenesis.", "output": {"entities": {"gene": [{"text": "LATS1", "start": 57, "end": 62}], "disease": [{"text": "BCC", "start": 102, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LATS1", "start": 57, "end": 62}, "tail": {"text": "BCC", "start": 102, "end": 105}}]}}, "schema": []}
{"input": "Recent genome-wide association studies (GWAS) in Asian Indians reported strong associations of variants near melanocortin-4 receptor (MC4R) and MLX interacting protein-like (MLXIPL) genes with insulin resistance and several obesity-related quantitative traits (QTs).", "output": {"entities": {"gene": [{"text": "MLXIPL", "start": 174, "end": 180}], "disease": [{"text": "insulin resistance", "start": 193, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Phosphatase and tensin homologue located on chromosome 10 deletion was common in certain histological subtypes and especially homozygous deletion was associated with high-grade malignancy, lymph node metastases and unfavourable long-term prognosis (P < 0. 001).", "output": {"entities": {"gene": [{"text": "tensin", "start": 16, "end": 22}], "disease": [{"text": "malignancy", "start": 177, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Agreement assessed by Deming regression was poor [Amplicor = 1. 197 (HC2)-0. 961; R (2) = 0. 799, standard error of the estimate (SEE) = 0. 710, n = 94].", "output": {"entities": {"gene": [{"text": "HC2", "start": 69, "end": 72}], "disease": [{"text": "regression", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "GAD had modest genetic correlations with caffeine tolerance, 0. 24, and caffeine withdrawal, 0. 35.", "output": {"entities": {"gene": [{"text": "GAD", "start": 0, "end": 3}], "disease": [{"text": "caffeine withdrawal", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The Kv1. 3 blocker PAP-1 in contrast did not reduce intima hyperplasia despite drastically reducing plasma IFN-γ levels and inhibiting lymphocyte infiltration.", "output": {"entities": {"gene": [{"text": "IFN", "start": 107, "end": 110}], "disease": [{"text": "hyperplasia", "start": 59, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The phenotypic similarity of the affecteds and the functional experiments in flies and mice indicate that IQSEC1 variants are the cause of a recessive disease with intellectual disability, developmental delay, and short stature, and that axonal guidance and dendritic projection defects as well as dendritic spine dysgenesis may underlie disease pathogenesis.", "output": {"entities": {"gene": [{"text": "IQSEC1", "start": 106, "end": 112}], "disease": [{"text": "developmental delay", "start": 189, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IQSEC1", "start": 106, "end": 112}, "tail": {"text": "developmental delay", "start": 189, "end": 208}}]}}, "schema": []}
{"input": "Apolipoprotein E receptors in the nervous system.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 0, "end": 16}], "disease": [{"text": "nervous system", "start": 34, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Assays included cell-survival curves, studies of potentially lethal damage repair, measurement of chromosomal aberrations and of G1 arrest, and Western blot analysis of lysates of irradiated cells to determine the phosphorylation of the product of the human Mdm2 gene (HDM2).", "output": {"entities": {"gene": [{"text": "HDM2", "start": 269, "end": 273}], "disease": [{"text": "chromosomal aberrations", "start": 98, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Using RNA profiles, we were able to distinguish BRCA1 tumors from sporadic tumors among basal-like tumors with 83% accuracy and BRCA2 from sporadic tumors among luminal B tumors with 89% accuracy.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 128, "end": 133}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We found that the frequency of loss of heterozygosity was similar at some chromosomal regions in the BRCA2 999del5 and sporadic tumors but significantly different at others.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 101, "end": 106}], "disease": [{"text": "sporadic", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In 56 specimens [CCH, n = 1; MTC with CCH, n = 26; MTC, n = 20; lymph-node metastasis (LNM), n = 9] from 46 patients [multiple endocrine neoplasia type 2a (MEN2a), n = 24; MEN2b, n = 2; familiar MTC (FMTC), n = 4; sporadic MTC, n-16] and 3 cases of non-neoplastic CCH, proliferation activity (MIB1), the rate of apoptosis [dUTP nick end labelling (TUNEL)] and expression of p53, bcl-2, bcl-x and bax were investigated and compared with clinical data.", "output": {"entities": {"gene": [{"text": "p53", "start": 374, "end": 377}], "disease": [{"text": "sporadic", "start": 214, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "TGNp230 is an extensively coiled-coil protein with flexible amino-and carboxyl-terminal ends, associates with non-clathrin-coated vesicles arising from the TGN, and is implicated in vesicle biogenesis.", "output": {"entities": {"gene": [{"text": "TGN", "start": 0, "end": 3}], "disease": [{"text": "vesicle", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.", "output": {"entities": {"gene": [{"text": "CKAP2L", "start": 53, "end": 59}], "disease": [{"text": "Filippi syndrome", "start": 81, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CKAP2L", "start": 53, "end": 59}, "tail": {"text": "Filippi syndrome", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "The TP53 gene is frequently mutated in sporadic and familial human cancers.", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 4, "end": 13}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Using human primary bone marrow stromal cells (BMSCs), lymphoblasts, and skin fibroblasts, we show that SBDS stabilized the mitotic spindle to prevent genomic instability.", "output": {"entities": {"gene": [{"text": "SBDS", "start": 104, "end": 108}], "disease": [{"text": "genomic instability", "start": 151, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "produced catalepsy in WT mice, which precluded determination of antiallodynic efficacy but produced sustained CB2-mediated suppression of paclitaxel-induced allodynia in CB1KO mice; these antiallodynic effects were blocked by the CB2 antagonist 6-iodopravadoline (AM630).", "output": {"entities": {"gene": [{"text": "CB2", "start": 110, "end": 113}], "disease": [{"text": "catalepsy", "start": 9, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "IFN-& #955; 3 rather than IFN-& #955; 4 likely mediates IFNL3-IFNL4 haplotype-dependent hepatic inflammation and fibrosis.", "output": {"entities": {"gene": [{"text": "IFNL3", "start": 56, "end": 61}], "disease": [{"text": "inflammation", "start": 96, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IFNL3", "start": 56, "end": 61}, "tail": {"text": "inflammation", "start": 96, "end": 108}}]}}, "schema": []}
{"input": "After stratification for birth weight, both HHEX-IDE and CDKAL1 risk alleles were associated with reduced BMI-SDS (0. 45 SDS, P = 0. 0002; 0. 52 SDS, P = 0. 0001) and weight-SDS (0. 22 SDS, P = 0. 04; 0. 56 SDS, P = 0. 0002) in children born large for gestational age (> 90th percentile) but not children born small or appropriate for gestational age.", "output": {"entities": {"gene": [{"text": "IDE", "start": 49, "end": 52}], "disease": [{"text": "large for gestational age", "start": 242, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "A human hepatoblastoma cell line (C3A, a subclone of HepG2/C3 that is currently being used as a surrogate liver) and human lung adenocarcinoma cells (A549) were stimulated with interleukin-1 beta (IL-1 beta), tumor necrosis factor-alpha (TNF alpha), interferon-gamma (IFN gamma), or IL-6 to determine any differences in cell type responsiveness to individual cytokines for ICAM-1 upregulation.", "output": {"entities": {"gene": [{"text": "C3A", "start": 34, "end": 37}], "disease": [{"text": "lung adenocarcinoma", "start": 123, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "During angiotensin II (AII) infusion studies (n = 6 mild and 10 severe), performed during recumbency, aldosterone levels were lower in the mild group both basally (404 +/-144 vs. 843 +/-498 pmol/L; P < 0. 05) and after 60 min AII (2 ng/kg x min; 261 +/-130 vs. 520 +/-330 pmol/L; P < 0. 05).", "output": {"entities": {"gene": [{"text": "AII", "start": 23, "end": 26}], "disease": [{"text": "mild", "start": 52, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The hamster buccal pouch (HBP) carcinogenesis model is one of the most well characterized animal systems for analyzing the development of oral squamous cell carcinoma (OSCC), a common malignancy worldwide.", "output": {"entities": {"gene": [{"text": "HBP", "start": 26, "end": 29}], "disease": [{"text": "carcinogenesis", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Three missense mutations were identified, resulting in the following delta chain hemoglobin (Hb) variants: Hb A (2)-Acacias [delta4 (ACT > AGT), Thr--> Ser, HBD c. 14C > G], Hb A (2)-Toronto [delta74 (GGC > GAC), Gly--> Asp, HBD c. 224G > A], and Hb A (2)-Calgary [delta99 (GAT > GGT), Asp--> Gly, HBD c. 299A > G].", "output": {"entities": {"gene": [{"text": "ACT", "start": 133, "end": 136}], "disease": [{"text": "hemoglobin", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "However, the C-allele carrier group had significantly higher mean body weight, body mass index, leptin levels, and higher indices of insulin resistance compared with women with GNAS1 TT-genotype.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 177, "end": 182}], "disease": [{"text": "body mass index", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Paraffin blocks from 16 cases of medullary carcinoma and 33 cases of poorly differentiated colonic carcinoma were retrieved, and tissue microarrays were constructed and stained with an immunohistochemical panel including CDX2, CK7, CK20, p53, intestinal trefoil factor 3, chromogranin, synaptophysin, MLH-1, MUC-1, MUC-2, and calretinin.", "output": {"entities": {"gene": [{"text": "CK7", "start": 227, "end": 230}], "disease": [{"text": "medullary carcinoma", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Mortality in head and neck squamous cell carcinoma (HNSCC) is high due to emergence of therapy resistance which results in local and regional recurrences that may have their origin in resistant cancer stem cells (CSCs) or cells with an epithelial-mesenchymal transition (EMT) phenotype.", "output": {"entities": {"gene": [{"text": "EMT", "start": 271, "end": 274}], "disease": [{"text": "resistant cancer", "start": 184, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Phenotypes varied from asymptomatic memory B-cell deficiency (n = 3) to EBV-associated hemophagocytosis and lymphoproliferative disorder (LPD; n = 3) and malignant lymphoma (n = 2; + 1 after LPD).", "output": {"entities": {"gene": [{"text": "LPD", "start": 138, "end": 141}], "disease": [{"text": "hemophagocytosis", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The functional significance of Int6 and the effect of Int6/EIF3E gene silencing on human brain GBM has not yet been described and its role on the HIFs is unknown in glioma cells.", "output": {"entities": {"gene": [{"text": "EIF3E gene", "start": 59, "end": 69}], "disease": [{"text": "glioma", "start": 165, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "SLC25A13 (citrin or aspartate-glutamate carrier 2) is located in the mitochondrial membrane in the liver and its genetic deficiency causes adult-onset type II citrullinemia (CTLN2).", "output": {"entities": {"gene": [{"text": "glutamate carrier 2", "start": 30, "end": 49}], "disease": [{"text": "citrullinemia", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We study how the kinetics of TSG inactivation depends on the population size of cells and the mutation rates for the first and second hit.", "output": {"entities": {"gene": [{"text": "TSG", "start": 29, "end": 32}], "disease": [{"text": "hit", "start": 134, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Included subjects had epilepsy, and MRI confirmed bilateral PVNH.", "output": {"entities": {"gene": [{"text": "MRI", "start": 36, "end": 39}], "disease": [{"text": "epilepsy", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that the SK1-S1P axis could be an attractive target for the development of treatments to ameliorate adipose inflammation and insulin resistance associated with obesity and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "S1P", "start": 32, "end": 35}], "disease": [{"text": "insulin resistance", "start": 144, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Whereas our analysis of 30 sporadic ovarian carcinomas showed a statistically significant reduction of BRCA1 mRNA expression (P = 0. 001), it also showed, in contrast, overexpression of BRCA2 mRNA (P = 0. 002) in tumor compared with nontumor.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 186, "end": 191}], "disease": [{"text": "sporadic", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "RER was observed in an order of hyperplasic endometrium (6/10 markers), ovarian carcinoma (5/10 markers), endometrial carcinomas (4/9 and 3/10), DFSP (2/9 markers), and cavernous hemangioma (2/10 markers).", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "ovarian carcinoma", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Treatment with growth hormone and dexamethasone in mice transgenic for human islet amyloid polypeptide causes islet amyloidosis and beta-cell dysfunction.", "output": {"entities": {"gene": [{"text": "islet amyloid polypeptide", "start": 77, "end": 102}], "disease": [{"text": "beta-cell dysfunction", "start": 132, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Twenty-eight samples of squamous cell carcinoma were evaluated by fluorescence in situ hybridization (FISH) using the probes RP11-546J1 (2q24) and RP11-21P18 (internal control).", "output": {"entities": {"gene": [{"text": "FISH", "start": 102, "end": 106}], "disease": [{"text": "squamous cell carcinoma", "start": 24, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Efforts have been taken in the past years to come to a better understanding of the molecular mechanisms of MMR, including those underlying MMR-related tumorigenesis, those determining the substrate-specificity of MMR-dependent damage recognition, and those linking damage recognition to cell death responses.", "output": {"entities": {"gene": [{"text": "MMR", "start": 107, "end": 110}], "disease": [{"text": "tumorigenesis", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Cytoplasmic immunoreactivity of IMP3 was significantly higher in LNM (93%) than in primary colon cancer (65%) or normal mucosa (3. 9%).", "output": {"entities": {"gene": [{"text": "IMP3", "start": 32, "end": 36}], "disease": [{"text": "colon cancer", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Thus, KS-WNK1 is a negative regulator of NCC and NKCC2 in vivo and plays an important role in the control of Na (+) homeostasis and blood pressure.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 49, "end": 54}], "disease": [{"text": "blood pressure", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity of BRCA1, TP53 and TCRD markers analysed in sporadic endometrial cancer.", "output": {"entities": {"gene": [{"text": "TP53", "start": 33, "end": 37}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVE: To investigate the relationship between single nucleotide polymorphisms (SNPs) of the genes encoding the estrogen receptor 1 (ESR1) and the receptor activator of nuclear factor kappa B ligand (RANKL) and bone mineral density (BMD) in postmenopausal Taiwanese.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 204, "end": 209}], "disease": [{"text": "bone mineral density", "start": 215, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "To assess the incidence of MLH1 (the human MutL homologue) and MSH2 (the human MutS homologue) protein expression in Turkish patients with sporadic colorectal cancers and to compare their survival and clinicopathological features.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 63, "end": 67}], "disease": [{"text": "sporadic", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "They also imply that in contrast to sporadic colorectal carcinoma, ulcerative colitis-associated neoplastic progression may involve p53 inactivation at relatively early, noninvasive stages.", "output": {"entities": {"gene": [{"text": "p53", "start": 132, "end": 135}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "TET1", "start": 10, "end": 14}], "disease": [{"text": "psychosis", "start": 165, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TET1", "start": 10, "end": 14}, "tail": {"text": "psychosis", "start": 165, "end": 174}}]}}, "schema": []}
{"input": "Sequencing of CHMP2B in 433 ALS cases from the North of England identified 4 cases carrying 3 missense mutations, including one novel mutation, p. Thr104Asn, none of which were present in 500 neurologically normal controls.", "output": {"entities": {"gene": [{"text": "CHMP2B", "start": 14, "end": 20}], "disease": [{"text": "ALS", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHMP2B", "start": 14, "end": 20}, "tail": {"text": "ALS", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "Laboratory data showed hypocalcemia, low urine calcium, hypophosphatemia, high serum alkaline phosphatase, elevated PTH, and low serum 1, 25-dihydroxyvitamin D (3).", "output": {"entities": {"gene": [{"text": "PTH", "start": 116, "end": 119}], "disease": [{"text": "alkaline phosphatase, elevated", "start": 85, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Association of intermittent hydrarthrosis with MEFV gene mutations.", "output": {"entities": {"gene": [{"text": "MEFV", "start": 47, "end": 51}], "disease": [{"text": "intermittent hydrarthrosis", "start": 15, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEFV", "start": 47, "end": 51}, "tail": {"text": "intermittent hydrarthrosis", "start": 15, "end": 41}}]}}, "schema": []}
{"input": "We report a patient with Allan-Herndon-Dudley syndrome characterized by developmental delay, hypotonia, and delayed myelination caused by a novel SLC16A2 mutation (p. L291R).", "output": {"entities": {"gene": [{"text": "SLC16A2", "start": 146, "end": 153}], "disease": [{"text": "Allan-Herndon-Dudley syndrome", "start": 25, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC16A2", "start": 146, "end": 153}, "tail": {"text": "Allan-Herndon-Dudley syndrome", "start": 25, "end": 54}}]}}, "schema": []}
{"input": "We demonstrate that two flavin mono-oxygenase family members, FMO1 and FMO3, oxidize trimethylamine (TMA), derived from gut flora metabolism of choline, to TMAO.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 71, "end": 75}], "disease": [{"text": "mono", "start": 31, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Factor VII-activating protease (FSAP) is involved in haemostasis and inflammation.", "output": {"entities": {"gene": [{"text": "FSAP", "start": 32, "end": 36}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "As a first step we estimate the ability of HRM for detection mutations in a set of 21 heterozygous samples harboring 8 different known BRCA1/BRCA2 variations, all samples had been preliminarily investigated by direct sequencing, and then we performed a blinded analysis by HRM in a set of 68 further sporadic samples of unknown genotype.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 141, "end": 146}], "disease": [{"text": "sporadic", "start": 300, "end": 308}]}, "relations": {}}, "schema": []}
{"input": "This study explored the role of p53, p16, bcl-2, ki-67, c-myc, Rb and EGFR, by using Immunohistochemistry assay, in 45 SBT and 39 NSBT patients in comparison with 16 schistosomal chronic cystitis (SC), 28 non-schistosomal chronic cystitis (NSC), and 20 normal control (CTL) subjects.", "output": {"entities": {"gene": [{"text": "p53", "start": 32, "end": 35}], "disease": [{"text": "chronic cystitis", "start": 179, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "GHR", "start": 206, "end": 209}], "disease": [{"text": "smoking", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "When used alone or in combination with LXY-LS-DOX, M-RAPA could greatly inhibit the expression of HIF-1α protein, which is always highly expressed in malignant cancers and involved in tumor angiogenesis, proliferation, therapeutic resistance and poor prognosis.", "output": {"entities": {"gene": [{"text": "RAPA", "start": 53, "end": 57}], "disease": [{"text": "cancers", "start": 160, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Using data from the Stroke Prevention in Young Women study, a population-based case-control study including 297 women aged 15 to 49 years with ischemic stroke and 422 women without stroke, we evaluated whether polymorphisms in genes regulating endothelial function, including endothelin-1 (EDN), endothelin receptor type B (EDNRB), and nitric oxide synthase-3 (NOS3), confer susceptibility to migraine and stroke.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 361, "end": 365}], "disease": [{"text": "stroke", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Danon disease is a rare X-linked lysosomal storage disease characterized by hypertrophic cardiomyopathy, myopathy and mental retardation, and is due to a primary defect in lysosome-associated membrane protein-2 (LAMP 2).", "output": {"entities": {"gene": [{"text": "LAMP", "start": 212, "end": 216}], "disease": [{"text": "lysosomal storage disease", "start": 33, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The genome-wide perspective identified discrete sets of genes that discriminated between BRCA, BRCA2, and sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 95, "end": 100}], "disease": [{"text": "sporadic", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Angiogenic cytokines, including IL-6, IL-8, and vascular endothelial growth factor, increased in plasma and ascites of patients with ovarian hyperstimulation syndrome.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 38, "end": 42}], "disease": [{"text": "ascites", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate activity and gene expression of AT LPL and HSL at fasting and 6 h after meal in two insulin-resistant groups-obese with Type 2 diabetes and obese without diabetes-and in non-diabetic normal-weight controls.", "output": {"entities": {"gene": [{"text": "HSL", "start": 81, "end": 84}], "disease": [{"text": "weight", "start": 228, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.", "output": {"entities": {"gene": [{"text": "FMR-1", "start": 97, "end": 102}], "disease": [{"text": "Fragile X mental retardation syndrome", "start": 0, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMR-1", "start": 97, "end": 102}, "tail": {"text": "Fragile X mental retardation syndrome", "start": 0, "end": 37}}]}}, "schema": []}
{"input": "We found reduced mRNA expression of REST and increased mRNA expression of CRH, adenylate cyclase 5, and the tumor necrosis factor superfamily, member 12-13 in patients with major depressive disorder in a current depressive state, but not in a remissive state.", "output": {"entities": {"gene": [{"text": "adenylate cyclase 5", "start": 79, "end": 98}], "disease": [{"text": "depressive state", "start": 212, "end": 228}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "adenylate cyclase 5", "start": 79, "end": 98}, "tail": {"text": "depressive state", "start": 212, "end": 228}}]}}, "schema": []}
{"input": "The detailed knowledge of gene content in C3CER1 is a prerequisite for functional analysis of these genes and understanding of their possible role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "C3CER1", "start": 42, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "With the exception of HLA class I HC, TAP2 and ERp57 not detectable in about 0. 5% of tumor lesions, all other APM components were not detected in at least 21% of lesions analyzed.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 38, "end": 42}], "disease": [{"text": "tumor", "start": 86, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The plasma BDNF level was robustly correlated with aggressiveness, implying that the plasma BDNF level might be useful as a behavioral state marker in patients with AD or A-MCI.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 11, "end": 15}], "disease": [{"text": "aggressiveness", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In vivo toxicity studies demonstrated no effect of EGTA, C10, or C12 on weight gain, lung edema, or bronchoalveolar lavage fluid (BALF) albumin.", "output": {"entities": {"gene": [{"text": "C10", "start": 57, "end": 60}], "disease": [{"text": "lung edema", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We identified strong associations to individual disorders, such as growth hormone releasing hormone (GHRH) with anxiety disorders, prolactin regulatory element (PREB) with eating disorders, ionotropic kainate glutamate receptor 5 (GRIK5) with bipolar disorder and several SNPs associated to several disorders, that may represent individual and related disease susceptibility factors.", "output": {"entities": {"gene": [{"text": "GRIK5", "start": 231, "end": 236}], "disease": [{"text": "bipolar disorder", "start": 243, "end": 259}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK5", "start": 231, "end": 236}, "tail": {"text": "bipolar disorder", "start": 243, "end": 259}}]}}, "schema": []}
{"input": "A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 41, "end": 57}], "disease": [{"text": "McArdle disease", "start": 88, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 41, "end": 57}, "tail": {"text": "McArdle disease", "start": 88, "end": 103}}]}}, "schema": []}
{"input": "To test this hypothesis, we investigated the interaction between tagging polymorphisms in the UCP2 gene (rs2306819, rs599277 and rs659366), alcohol intake and obesity traits such as BMI and waist circumference (WC) on alanine aminotransferase (ALT) and gamma glutamyl transferase (GGT) in a large meta-analysis of data sets from three populations (n = 20 242).", "output": {"entities": {"gene": [{"text": "GGT", "start": 281, "end": 284}], "disease": [{"text": "alcohol intake", "start": 140, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "SnoN overexpression is predictive of poor survival in patients with esophageal squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "SnoN", "start": 0, "end": 4}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 68, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.", "output": {"entities": {"gene": [{"text": "USH2A", "start": 135, "end": 140}], "disease": [{"text": "ASD", "start": 194, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "USH2A", "start": 135, "end": 140}, "tail": {"text": "ASD", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "Taken together, the present data suggested that CD41 and CD45 expression marked the onset of HB neovascularisation and the stepwise development of the angioformative period.", "output": {"entities": {"gene": [{"text": "CD45", "start": 57, "end": 61}], "disease": [{"text": "neovascularisation", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "rs761142 in GCLC was found to be associated with reduced GCLC mRNA expression and with SMX-induced hypersensitivity in HIV/AIDS patients.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 12, "end": 16}], "disease": [{"text": "hypersensitivity", "start": 99, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We describe 11-and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 111, "end": 116}], "disease": [{"text": "mild", "start": 60, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Because phosphatidylinositol 3'-kinase (PI3-K) is essential for Bcr/Abl leukemogenesis, we evaluated the role of mouse PDGF-beta-receptor binding sites for PI3-K (Y708, Y719) and for phospholipase C-gamma (Y977, Y989) in PDGF-mediated Bcr kinase activation.", "output": {"entities": {"gene": [{"text": "PI3", "start": 40, "end": 43}], "disease": [{"text": "leukemogenesis", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Our findings enrich the evidence of molecular genetics that the mutations of RUNX2 gene are responsible for CCD.", "output": {"entities": {"gene": [{"text": "RUNX2", "start": 77, "end": 82}], "disease": [{"text": "CCD", "start": 108, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RUNX2", "start": 77, "end": 82}, "tail": {"text": "CCD", "start": 108, "end": 111}}]}}, "schema": []}
{"input": "Furthermore, a candidate genetic locus that associates with baseline depressive-like behavior contains a gene that encodes for cellular proliferation/adhesion molecule (Cadm1), supporting a genetic basis for the role of neuro/gliogenesis in depression.", "output": {"entities": {"gene": [{"text": "Cadm1", "start": 169, "end": 174}], "disease": [{"text": "depression", "start": 241, "end": 251}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cadm1", "start": 169, "end": 174}, "tail": {"text": "depression", "start": 241, "end": 251}}]}}, "schema": []}
{"input": "Because hypoxia is associated with fibrosis in several profibrogenic conditions, we investigated whether CTGF expression in SSc fibroblasts is regulated by hypoxia.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "The Apolipoprotein A5 (APO A5)-1131T/C, fibrinogen β (FgB)-455G/A,-148C/T, and cholesteryl ester transfer protein (CETP) TaqIB gene polymorphisms have been indicated to be associated with the coronary artery disease (CAD) risk, but the individual study results are still inconsistent.", "output": {"entities": {"gene": [{"text": "Apolipoprotein A5", "start": 4, "end": 21}], "disease": [{"text": "fibrinogen", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 25, "end": 29}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 60, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 25, "end": 29}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 60, "end": 95}}]}}, "schema": []}
{"input": "Our data suggest that the lupus-associated variant in the MECP2/IRAK1 locus has the potential to affect all 3 epigenetic mechanisms: DNA methylation, microRNA expression, and histone modification.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 58, "end": 63}], "disease": [{"text": "lupus", "start": 26, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 58, "end": 63}, "tail": {"text": "lupus", "start": 26, "end": 31}}]}}, "schema": []}
{"input": "We found that the enrichment of a rare chromosome 22q11. 22 deletion in a recently expanded Northern Finnish sub-isolate enabled the detection of association between TOP3B and both schizophrenia and cognitive impairment.", "output": {"entities": {"gene": [{"text": "TOP3B", "start": 166, "end": 171}], "disease": [{"text": "schizophrenia", "start": 181, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TOP3B", "start": 166, "end": 171}, "tail": {"text": "schizophrenia", "start": 181, "end": 194}}]}}, "schema": []}
{"input": "Array comparative genome hybridization showed that chromosomal aberrations in LSL-MYCN; Dbh-iCre tumors were syntenic to those observed in human neuroblastomas.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 82, "end": 86}], "disease": [{"text": "chromosomal aberrations", "start": 51, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYCN", "start": 82, "end": 86}, "tail": {"text": "chromosomal aberrations", "start": 51, "end": 74}}]}}, "schema": []}
{"input": "Thus, coagulation factor I (fibrinogen) and FVIII were preferentially consumed.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 44, "end": 49}], "disease": [{"text": "fibrinogen", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "NY-ESO-1 was the only CTA demonstrated and seen in 12% of meningioma tissue specimens.", "output": {"entities": {"gene": [{"text": "CTA", "start": 22, "end": 25}], "disease": [{"text": "meningioma", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Although most ACT are of sporadic origin, they may also be part of syndromic and/or hereditary disorders.", "output": {"entities": {"gene": [{"text": "ACT", "start": 14, "end": 17}], "disease": [{"text": "sporadic", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The percentage of drinkers, alcohol consumption, AST, ALT, and gamma-GTP were higher in group ADH2 * 1/1 than in group ADH2 * 1/2 or ADH2 * 2/2 (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "AST", "start": 49, "end": 52}], "disease": [{"text": "alcohol consumption", "start": 28, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In order to explore the function of aortic H-FABP, we examined whether a quantitative change in aortic H-FABP occurred in diabetes mellitus, since this pathological state has been shown to cause abnormalities in fatty acid metabolism.", "output": {"entities": {"gene": [{"text": "H-FABP", "start": 43, "end": 49}], "disease": [{"text": "abnormalities", "start": 195, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Cell-based studies revealed that DAPK mediates several types of cell death, including apoptosis, autophagic death and necrosis, depending on death stimuli and cell context.", "output": {"entities": {"gene": [{"text": "DAPK", "start": 33, "end": 37}], "disease": [{"text": "necrosis", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 28, "end": 34}], "disease": [{"text": "Peters' anomaly", "start": 64, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP1B1", "start": 28, "end": 34}, "tail": {"text": "Peters' anomaly", "start": 64, "end": 79}}]}}, "schema": []}
{"input": "Therefore, we studied the regulation of (18) F-FDG uptake by the human follicular thyroid carcinoma cell line ML-1 and the as-yet-unknown oncogene expression of that cell line.", "output": {"entities": {"gene": [{"text": "ML-1", "start": 110, "end": 114}], "disease": [{"text": "follicular thyroid carcinoma", "start": 71, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Thalidomide has been described as an inhibitor of both angiogenesis (which may account for its teratogenic effects on limb bud formation) and tumor necrosis factor-alpha (TNF-alpha) production.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 171, "end": 180}], "disease": [{"text": "teratogenic effects", "start": 95, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "or ventricular fibrillation [VF]), lower left ventricle ejection fraction, higher left ventricle mass index, higher end-diastolic volume and higher number of smoking pack-years were significantly associated with higher WBC, CRP and IL-6.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 232, "end": 236}], "disease": [{"text": "smoking", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "LPL concentration and activity were analyzed, and endothelial function was evaluated noninvasively as flow-mediated dilation of the brachial artery.", "output": {"entities": {"gene": [{"text": "LPL", "start": 0, "end": 3}], "disease": [{"text": "dilation", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical and FISH analysis of EGFR and its prognostic value in patients with oral squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 24, "end": 28}], "disease": [{"text": "squamous cell carcinoma", "start": 93, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "These results provide evidence that selective inhibition of HDAC1 and HDAC2 in brain may provide an epigenetic-based target for developing improved treatments for mood disorders and other brain disorders with altered chromatin-mediated neuroplasticity.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 70, "end": 75}], "disease": [{"text": "mood disorders", "start": 163, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 70, "end": 75}, "tail": {"text": "mood disorders", "start": 163, "end": 177}}]}}, "schema": []}
{"input": "In this study, we explored the function of EphB3 in non-small-cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "EphB3", "start": 43, "end": 48}], "disease": [{"text": "lung cancer", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.", "output": {"entities": {"gene": [{"text": "Keratin 13", "start": 0, "end": 10}], "disease": [{"text": "white sponge nevus", "start": 79, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Keratin 13", "start": 0, "end": 10}, "tail": {"text": "white sponge nevus", "start": 79, "end": 97}}]}}, "schema": []}
{"input": "The role of continuous passive motion (CPM) in the management of septic arthritis and inflammatory arthritis remains of interest.", "output": {"entities": {"gene": [{"text": "CPM", "start": 39, "end": 42}], "disease": [{"text": "inflammatory arthritis", "start": 86, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to determine the expression and functional significance of GPR37 in human multiple myeloma (MM).", "output": {"entities": {"gene": [{"text": "GPR37", "start": 92, "end": 97}], "disease": [{"text": "myeloma", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Patients with irritable bowel syndrome (IBS) with diarrhea (IBS-D) carrying human leukocyte antigen (HLA)-DQ2/8 genotypes benefit from gluten withdrawal.", "output": {"entities": {"gene": [{"text": "DQ2", "start": 106, "end": 109}], "disease": [{"text": "diarrhea", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to compare the expression of the SRC-1, SRC-2, and SRC-3 coactivators between fibroids and normal myometrium in pure populations of cultured smooth muscle cells (SMC) and microvascular endothelial cells (MEC), and also between both cell types, and to identify any relationship between the SRC expression profiles and the known ER status of the SMC and MEC samples examined in this study.", "output": {"entities": {"gene": [{"text": "SMC", "start": 190, "end": 193}], "disease": [{"text": "fibroids", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Despite their DNA binding similarities, the EWS-FLI-1 translocation product is likely to have a distinct pattern of expression from that of FLI-1 since the translocation results in the replacement of the 5' regulatory region of Fli-1 with that of EWS.", "output": {"entities": {"gene": [{"text": "EWS", "start": 44, "end": 47}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The men with the CC genotype also showed significantly lower body mass index (BMI), serum sex hormone binding globulin (SHBG), estradiol, total alkaline phosphatase-(total AP) and bone alkaline phosphatase (bone AP) levels and significantly higher free androgen index (FAI).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 120, "end": 124}], "disease": [{"text": "body mass index", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In addition, hypoxia and its mediator hnRNPL upregulated DGK-α and buffered the cytotoxic effects of miR-297.", "output": {"entities": {"gene": [{"text": "DGK-α", "start": 57, "end": 62}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "A homozygous nonsense mutation (p. Glu38X) was identified in CAV1 in a patient with BSCL born from a consanguineous union.", "output": {"entities": {"gene": [{"text": "CAV1", "start": 61, "end": 65}], "disease": [{"text": "BSCL", "start": 84, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CAV1", "start": 61, "end": 65}, "tail": {"text": "BSCL", "start": 84, "end": 88}}]}}, "schema": []}
{"input": "The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P).", "output": {"entities": {"gene": [{"text": "SACS", "start": 79, "end": 83}], "disease": [{"text": "ARSACS", "start": 77, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SACS", "start": 79, "end": 83}, "tail": {"text": "ARSACS", "start": 77, "end": 83}}]}}, "schema": []}
{"input": "These results demonstrate an association of decreased postheparin LPL activity with low plasma adiponectin that is independent of systemic inflammation and insulin resistance.", "output": {"entities": {"gene": [{"text": "LPL", "start": 66, "end": 69}], "disease": [{"text": "insulin resistance", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "PRP NPY-ir levels correlated with lesion area (p = 0. 03), necrotic core area, and the necrotic core-to-lesion area ratio (p < 0. 01) in male, but not female, mice.", "output": {"entities": {"gene": [{"text": "NPY", "start": 4, "end": 7}], "disease": [{"text": "necrotic", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Couples with RT may benefit from PGD; pregnancy success rate is improved and embryo loss reduced.", "output": {"entities": {"gene": [{"text": "PGD", "start": 33, "end": 36}], "disease": [{"text": "embryo loss", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In univariate analysis, CK-14 was significantly associated with tumours from BRCA1 (39%; P < 0. 0005), BRCA2 (27%; P = 0. 011), and non-BRCA1/BRCA2 (21%; P < 0. 005) families, as compared with sporadic tumours (10%).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 103, "end": 108}], "disease": [{"text": "sporadic", "start": 193, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, it remains to be evaluated whether PINK1 variations contribute to the risk of common late onset sporadic PD.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 49, "end": 54}], "disease": [{"text": "sporadic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Although it is possible that these cases contained cryptic rearrangements of EWSR1 or FUS that were not detectable by our FISH probes, it also raises the possibility that another translocation/gene fusion may be present in angiomatoid fibrous histiocytoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 122, "end": 126}], "disease": [{"text": "angiomatoid fibrous histiocytoma", "start": 223, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Thus, morgana/chp-1 appears to prevent both centrosome amplification and tumorigenesis.", "output": {"entities": {"gene": [{"text": "chp-1", "start": 14, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "A number of microRNAs have been demonstrated to function as protectors against ischemia-reperfusion (I/R) and/or hypoxia-reperfusion (H/R)-induced myocardial injury, including microRNA-21 (miR-21).", "output": {"entities": {"gene": [{"text": "miR-21", "start": 189, "end": 195}], "disease": [{"text": "hypoxia", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Growth factors, hypoxia and co-culture with nucleus pulposus (NP) cells induce MSCs to differentiate toward an NP-like phenotype, which can increase the number of functional cells in the IVD or enhance the function of endogenous disc cells to facilitate IVD regeneration.", "output": {"entities": {"gene": [{"text": "IVD", "start": 187, "end": 190}], "disease": [{"text": "hypoxia", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (& lt; i & gt; PHIP & lt;/i & gt;) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features.", "output": {"entities": {"gene": [{"text": "pleckstrin homology domain-interacting protein", "start": 76, "end": 122}], "disease": [{"text": "intellectual disability", "start": 318, "end": 341}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pleckstrin homology domain-interacting protein", "start": 76, "end": 122}, "tail": {"text": "intellectual disability", "start": 318, "end": 341}}]}}, "schema": []}
{"input": "Enriched housing after stroke also leads to a significant loss of perineuronal net (PNN) immunoreactivity; detection of aggrecan protein backbone with AB1031 antibody was decreased by 13-22%, and labelling of a glycan moiety of aggrecan with Cat-315 antibody was reduced by 25-30% in the peri-infarct area and in the somatosensory cortex, respectively.", "output": {"entities": {"gene": [{"text": "PNN", "start": 84, "end": 87}], "disease": [{"text": "infarct", "start": 293, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Therefore, inflammation, antitumor immunity, and the clinical outcome of cancer patients are influenced by a common TLR5 polymorphism.", "output": {"entities": {"gene": [{"text": "TLR5", "start": 116, "end": 120}], "disease": [{"text": "inflammation", "start": 11, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Calpain 2 is a calcium-dependent intracellular protease that regulates adhesion turnover and disassembly through the targeting of specific substrates such as talin.", "output": {"entities": {"gene": [{"text": "Calpain 2", "start": 0, "end": 9}], "disease": [{"text": "adhesion", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Therefore, this study aimed to investigate possible alterations in the expression of ER & #945; (ESR1) and ER & #946; (ESR2) in the epididymal region of roosters affected by epididymal lithiasis.", "output": {"entities": {"gene": [{"text": "ESR2", "start": 119, "end": 123}], "disease": [{"text": "lithiasis", "start": 185, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ESR2", "start": 119, "end": 123}, "tail": {"text": "lithiasis", "start": 185, "end": 194}}]}}, "schema": []}
{"input": "Immunophenotyping of leukemia cells revealed either CD3 + CD4 + CD8-CD25 + or CD3 + CD4 + CD8 + CD25 +.", "output": {"entities": {"gene": [{"text": "CD4", "start": 58, "end": 61}], "disease": [{"text": "leukemia", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "These cell lines secreted a chemotactic protein into the culture fluids under certain conditions of stimulation with phorbol-12-myristate 13-acetate (PMA), lipopolysaccharide, or hemagglutinin-P. A myeloid leukemia cell line, ML-1, secreted an inducible chemotaxin when stimulated with PMA (1 ng/ml) for 24 h. We purified the chemotaxin from ML-1 cell culture fluid using an improved procedure: concentration with DEAE-Sepharose CL-6B and CM-Sepharose CL-6B, CM-Sepharose column chromatography, and reverse-phase 5TMS-300 column on HPLC with the retention time coinciding with that of LUCT/IL-8 [Suzuki et al., 1989, J. Exp.", "output": {"entities": {"gene": [{"text": "ML-1", "start": 226, "end": 230}], "disease": [{"text": "myeloid leukemia", "start": 198, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Depression and fatigue during chronic IFN-& #945; administration were associated with alterations in the expression (OAS2) and transcriptional control (CREB/ATF) of genes linked to behavioral disorders including CFS and major depression, further supporting an immune contribution to these diseases.", "output": {"entities": {"gene": [{"text": "OAS2", "start": 117, "end": 121}], "disease": [{"text": "Depression", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OAS2", "start": 117, "end": 121}, "tail": {"text": "Depression", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "Survival and proliferation of cancer cells are often associated with hyperactivity of the serine/threonine kinase, Akt.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 90, "end": 113}], "disease": [{"text": "hyperactivity", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that PC +/-mice subjected to this challenge displayed enhanced focal arterial inflammation and thrombosis, leading to larger neointimas and subsequent localized occlusion, as compared to their WT counterparts.", "output": {"entities": {"gene": [{"text": "PC", "start": 28, "end": 30}], "disease": [{"text": "arterial inflammation", "start": 92, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PC", "start": 28, "end": 30}, "tail": {"text": "arterial inflammation", "start": 92, "end": 113}}]}}, "schema": []}
{"input": "Finally, we conclude that down-regulated expression of miR-143 and up-regulation of its direct target B7H1 may indicate a novel therapeutic method for radiation-induced thymic lymphoma by increased expression of miR-143 or inhibition of B7H1.", "output": {"entities": {"gene": [{"text": "miR-143", "start": 55, "end": 62}], "disease": [{"text": "lymphoma", "start": 176, "end": 184}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-143", "start": 55, "end": 62}, "tail": {"text": "lymphoma", "start": 176, "end": 184}}]}}, "schema": []}
{"input": "Two commonly occurring polymorphisms of FMO3, E158K and E308G, have been associated with a reduction in polyp burden in patients with familial adenomatous polyposis who were treated with sulindac sulfide, an FMO3 substrate.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 40, "end": 44}], "disease": [{"text": "familial adenomatous polyposis", "start": 134, "end": 164}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FMO3", "start": 40, "end": 44}, "tail": {"text": "familial adenomatous polyposis", "start": 134, "end": 164}}]}}, "schema": []}
{"input": "Ewing sarcoma of the small bowel: a study of seven cases, including one with the uncommonly reported EWSR1-FEV translocation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 101, "end": 106}], "disease": [{"text": "translocation", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Hepatitis B X-interacting protein (HBXIP) is an important oncoprotein in hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "HBXIP", "start": 35, "end": 40}], "disease": [{"text": "hepatocarcinogenesis", "start": 73, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "A new recurrent chromosomal translocation t (3; 11) (q13; q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 gene.", "output": {"entities": {"gene": [{"text": "ILDR1 gene", "start": 130, "end": 140}], "disease": [{"text": "chromosomal translocation", "start": 16, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Diabetes increased the expression and immunoreactivity of KIF1A and KIF5B in the hippocampus, but no alterations in dynein were detected.", "output": {"entities": {"gene": [{"text": "KIF5B", "start": 68, "end": 73}], "disease": [{"text": "Diabetes", "start": 0, "end": 8}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIF5B", "start": 68, "end": 73}, "tail": {"text": "Diabetes", "start": 0, "end": 8}}]}}, "schema": []}
{"input": "The prevalence of overweight in our cohort was higher than in general European population (31% vs 20%) and increased regardless of the use of CRT.", "output": {"entities": {"gene": [{"text": "CRT", "start": 142, "end": 145}], "disease": [{"text": "overweight", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "UCP2, UCP3 long and short mRNA levels were examined in skeletal muscle and in white adipose tissue of lean, obese, and weight-reduced individuals by RNase protection assay.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 0, "end": 4}], "disease": [{"text": "weight", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The delayed-type hypersensitivity response to p53 was increased in mice immunized with p53 alone or p53 and Flt3L compared with a negative control.", "output": {"entities": {"gene": [{"text": "Flt3L", "start": 108, "end": 113}], "disease": [{"text": "delayed-type hypersensitivity response", "start": 4, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In the present study we sought to study the same (AAT) n-repeat microsatellite of the CNR1 gene which showed association to hebephrenic schizophrenia in Japan, and to investigate whether this microsatellite showed association to a hebephrenic type of schizophrenia in a family-based association study in a population of the Central Valley of Costa Rica.", "output": {"entities": {"gene": [{"text": "AAT", "start": 50, "end": 53}], "disease": [{"text": "hebephrenic schizophrenia", "start": 124, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "To examine serum B-type natriuretic peptide (BNP) levels and BNP expression of protein and mRNA in the right ventricular myocardium in juvenile rats with right heart failure (RHF) and the effects of beta-adrenergic receptor blocker carvedilol on serum and myocardial BNP levels in order to investigate the role of BNP in the diagnosis and treatment of RHF.", "output": {"entities": {"gene": [{"text": "beta-adrenergic receptor", "start": 199, "end": 223}], "disease": [{"text": "right heart failure", "start": 154, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The TWEAK/Fn14 pathway contributed to cell death and interstitial inflammation during acute kidney injury, to glomerular injury in lupus nephritis, to hyperlipidemia-associated kidney injury, and to tubular cell hyperplasia following unilateral nephrectomy.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 4, "end": 9}], "disease": [{"text": "hyperplasia", "start": 212, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "When wt (wild-type)-or mutated Dnase1 were added to cells after induction of necrosis, faster chromatin degradation occurred in the presence of mutant Dnase1.", "output": {"entities": {"gene": [{"text": "Dnase1", "start": 31, "end": 37}], "disease": [{"text": "necrosis", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "However, germline CDH1 mutations have not been described in patients with LBC in non-HDGC families.", "output": {"entities": {"gene": [{"text": "CDH1", "start": 18, "end": 22}], "disease": [{"text": "HDGC", "start": 85, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDH1", "start": 18, "end": 22}, "tail": {"text": "HDGC", "start": 85, "end": 89}}]}}, "schema": []}
{"input": "Metaplasia in primary human small airway epithelial cells (SAEC) was induced by a Th2 cytokine, IL-13, without or with AR inhibitor, fidarestat.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 96, "end": 101}], "disease": [{"text": "Metaplasia", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-13", "start": 96, "end": 101}, "tail": {"text": "Metaplasia", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "The exocrine pancreas can undergo acinar-to-ductal metaplasia (ADM), as in the case of pancreatitis where precursor lesions of pancreatic ductal adenocarcinoma (PDAC) can arise.", "output": {"entities": {"gene": [{"text": "ADM", "start": 63, "end": 66}], "disease": [{"text": "pancreatitis", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.", "output": {"entities": {"gene": [{"text": "G5", "start": 58, "end": 60}], "disease": [{"text": "sitosterolemia", "start": 79, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "G5", "start": 58, "end": 60}, "tail": {"text": "sitosterolemia", "start": 79, "end": 93}}]}}, "schema": []}
{"input": "Moreover, when ATF3 was overexpressed in mice via adenovirus-mediated gene transfer, ischemia-reperfusion injury was reduced.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 15, "end": 19}], "disease": [{"text": "adenovirus", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that, analogous to the genetic events in a subset of schwannomatosis associated schwannomas, a four-hit mechanism of tumour suppressor gene inactivation, involving SMARCB1 and NF2, might be operative in familial multiple meningiomas associated meningiomas.", "output": {"entities": {"gene": [{"text": "SMARCB1", "start": 180, "end": 187}], "disease": [{"text": "meningiomas", "start": 237, "end": 248}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCB1", "start": 180, "end": 187}, "tail": {"text": "meningiomas", "start": 237, "end": 248}}]}}, "schema": []}
{"input": "To this end, we have tested pPNETs for the presence of EWS/FLI-1 fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) using EWS and FLI-1 specific primers.", "output": {"entities": {"gene": [{"text": "FLI-1", "start": 59, "end": 64}], "disease": [{"text": "pPNET", "start": 28, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLI-1", "start": 59, "end": 64}, "tail": {"text": "pPNET", "start": 28, "end": 33}}]}}, "schema": []}
{"input": "On a normal K (+) diet, homozygous kcne1 (-/-) mice exhibit signs of chronic volume depletion associated with fecal Na (+) and K (+) wasting and have lower plasma K (+) concentration and higher levels of aldosterone than wild-type mice.", "output": {"entities": {"gene": [{"text": "kcne1", "start": 35, "end": 40}], "disease": [{"text": "volume depletion", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "BRCA2-related tumors presented at the earlier age compared with sporadic tumors (P = 0. 005).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours.", "output": {"entities": {"gene": [{"text": "neurofibromatosis type 1 gene", "start": 83, "end": 112}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Small interfering RNA (siRNA) was used to suppress SPRY4-IT1 expression in renal cancer cell line 786-O.", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 51, "end": 60}], "disease": [{"text": "renal cancer", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "NO-mediated S-nitrosylation of PDI may be involved in the formation of the SOD1-linked ubiquitinated-protein aggregates in cerebral ischemia/reperfusion injury.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 75, "end": 79}], "disease": [{"text": "ischemia/reperfusion injury", "start": 132, "end": 159}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD1", "start": 75, "end": 79}, "tail": {"text": "ischemia/reperfusion injury", "start": 132, "end": 159}}]}}, "schema": []}
{"input": "Our TDT analysis clearly demonstrates a lack of association between the T allele of the C677T mutation in MTHFR and cardiovascular artery disease, both for the general group and for different risk subgroups (smokers, hypertension, male sex, overweight and type A behaviour pattern) in the Spanish population.", "output": {"entities": {"gene": [{"text": "TDT", "start": 4, "end": 7}], "disease": [{"text": "overweight", "start": 241, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Selumetinib plus dacarbazine versus placebo plus dacarbazine as first-line treatment for BRAF-mutant metastatic melanoma: a phase 2 double-blind randomised study.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 89, "end": 93}], "disease": [{"text": "blind", "start": 139, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "To assess whether treatment with troglitazone, a currently available thiazolidinedione used to treat diabetes mellitus, has an effect on psoriasis in normoglycemic patients and whether ligands for PPARgamma have an effect on models of psoriasis.", "output": {"entities": {"gene": [{"text": "PPARgamma", "start": 197, "end": 206}], "disease": [{"text": "psoriasis", "start": 137, "end": 146}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPARgamma", "start": 197, "end": 206}, "tail": {"text": "psoriasis", "start": 137, "end": 146}}]}}, "schema": []}
{"input": "We performed MCT8 mutation analysis including 13 XLMR families with LOD scores & gt; 2. 0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 13, "end": 17}], "disease": [{"text": "AHDS", "start": 147, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCT8", "start": 13, "end": 17}, "tail": {"text": "AHDS", "start": 147, "end": 151}}]}}, "schema": []}
{"input": "In untreated MDC subjects, intron 6 CC genotype carriers had higher diastolic blood pressure than carriers of the T allele (P = 0. 02) and exon 8 C allele carriers had higher systolic blood pressure than TT genotype carriers (P = 0. 05).", "output": {"entities": {"gene": [{"text": "MDC", "start": 13, "end": 16}], "disease": [{"text": "diastolic blood pressure", "start": 68, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "On the contrary, activation of the KCNQ/M channels with retigabine not only inhibited the hyperexcitability of these small DRG neurons, but also alleviated mechanical allodynia and thermal hyperalgesia in bone cancer rats, and all of these effects of retigabine could be blocked by KCNQ/M-channel antagonist XE-991.", "output": {"entities": {"gene": [{"text": "DRG", "start": 123, "end": 126}], "disease": [{"text": "bone cancer", "start": 205, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "CNS-1 is a highly invasive neural cell adhesion molecule (NCAM)-positive rat glioma that exhibits similarities in its pattern of infiltration to human gliomas.", "output": {"entities": {"gene": [{"text": "NCAM", "start": 58, "end": 62}], "disease": [{"text": "gliomas", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.", "output": {"entities": {"gene": [{"text": "STS", "start": 40, "end": 43}], "disease": [{"text": "obesity", "start": 180, "end": 187}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STS", "start": 40, "end": 43}, "tail": {"text": "obesity", "start": 180, "end": 187}}]}}, "schema": []}
{"input": "Hepatic overexpression of miR-34a reduced NAMPT/NAD (+) levels, increased acetylation of the SIRT1 target transcriptional regulators, PGC-1 & #945;, SREBP-1c, FXR, and NF-& #954; B, and resulted in obesity-mimetic outcomes.", "output": {"entities": {"gene": [{"text": "miR-34a", "start": 26, "end": 33}], "disease": [{"text": "obesity", "start": 198, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-34a", "start": 26, "end": 33}, "tail": {"text": "obesity", "start": 198, "end": 205}}]}}, "schema": []}
{"input": "Long-term clinical implications of embryonic stem cell markers such as Oct4 and Nanog have not been investigated in ST-elevation myocardial infarction (STEMI) patients.", "output": {"entities": {"gene": [{"text": "Oct4", "start": 71, "end": 75}], "disease": [{"text": "myocardial infarction", "start": 129, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have shown that overexpression of Heat Shock Factor (HSF) 1 in aneuploid tumor cells can overcome deficiencies in heat shock protein (HSP) 90-mediated protein folding and restore protein homeostasis.", "output": {"entities": {"gene": [{"text": "HSF", "start": 68, "end": 71}], "disease": [{"text": "aneuploid", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "As one of the intercellular adhesion molecules, CD58 plays important roles in promotion of the adhesion between T cells and target cells, hyperplasia, activation of T cells and natural killer cells, and balance between Th1 and Th2.", "output": {"entities": {"gene": [{"text": "Th1", "start": 219, "end": 222}], "disease": [{"text": "adhesion", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "This may reflect a disrupted functional interaction between NAAG and mGluR3 in CA3 in schizophrenia.", "output": {"entities": {"gene": [{"text": "CA3", "start": 79, "end": 82}], "disease": [{"text": "schizophrenia", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The results of this study showed that (a) three months after ileocolonic resection for Crohn' s disease the neoterminal ileal mucosa showed endoscopically new inflammation and had higher PLA2 activity than at the time of the operation (n = 8); no such findings were seen in controls (n = 7), (b) histologically normal ileal mucosa (n = 3) contained mRNA for three isoforms of PLA2 (PLA2-I, PLA2-II, and cPLA2), but the amounts of PLA2-II mRNA clearly exceeded the amounts of mRNA for PLA2-I and cPLA2, (c) ileal mucosa from Crohn' s patients (n = 2) contained higher values of PLA2-II mRNA than ileal mucosa from two controls, (d) ileal mucosa from Crohn' s patients (n = 4) showed increased PLA2-II mRNA three months after ileocolonic resection.", "output": {"entities": {"gene": [{"text": "cPLA2", "start": 403, "end": 408}], "disease": [{"text": "inflammation", "start": 159, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In the Chinese population, the frequencies of the ADH2 * 1 and ADH3 * 2 alleles were significantly higher in the alcoholic cirrhotic patients (53%; 23%) than in the viral hepatitis cirrhotics (32%; 8%) and the gastric and/or duodenal ulcer control patients (25%; 6%).", "output": {"entities": {"gene": [{"text": "ADH3", "start": 63, "end": 67}], "disease": [{"text": "duodenal ulcer", "start": 225, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Here, we performed integrated in vivo and in vitro protocols that analyzed the association between Ala16Val-SOD2 polymorphism and prostate cancer aggressiveness at the time of diagnosis and evaluated the effect of the imbalance on PC proliferation using the DU-145 PC cell line treated with paraquat and porphyrin.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 108, "end": 112}], "disease": [{"text": "prostate cancer", "start": 130, "end": 145}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD2", "start": 108, "end": 112}, "tail": {"text": "prostate cancer", "start": 130, "end": 145}}]}}, "schema": []}
{"input": "The expression of CD30 in anaplastic large cell lymphoma is regulated by nucleophosmin-anaplastic lymphoma kinase-mediated JunB level in a cell type-specific manner.", "output": {"entities": {"gene": [{"text": "JunB", "start": 123, "end": 127}], "disease": [{"text": "large cell lymphoma", "start": 37, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In contrasts, in these animals, striatal RGS9-2 overexpression diminishes both the involuntary movement intensity and the anti-parkinsonian effects of the D2/D3 receptor agonist ropinirole.", "output": {"entities": {"gene": [{"text": "RGS9", "start": 41, "end": 45}], "disease": [{"text": "involuntary movement", "start": 83, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The EWS gene, which encodes an RNA binding protein, was also shown to be involved in Ewing sarcoma, related primitive neuroectodermal tumors and desmoplastic small round cell tumors.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 31, "end": 50}], "disease": [{"text": "primitive neuroectodermal tumors", "start": 108, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as \" animal-type melanoma \" and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC).", "output": {"entities": {"gene": [{"text": "PEM", "start": 36, "end": 39}], "disease": [{"text": "blue nevus", "start": 159, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Cholecystokinin (CCK) gene as a possible risk factor for smoking: a replication in two independent samples.", "output": {"entities": {"gene": [{"text": "CCK", "start": 17, "end": 20}], "disease": [{"text": "smoking", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "A recent genome-wide association study (GWAS) in the Swedish population has identified a susceptibility locus for cervical cancer within the HLA-DP region.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 141, "end": 147}], "disease": [{"text": "cervical cancer", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "A carvedilol-responsive microRNA, miR-125b-5p protects the heart from acute myocardial infarction by repressing pro-apoptotic bak1 and klf13 in cardiomyocytes.", "output": {"entities": {"gene": [{"text": "klf13", "start": 135, "end": 140}], "disease": [{"text": "myocardial infarction", "start": 76, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "klf13", "start": 135, "end": 140}, "tail": {"text": "myocardial infarction", "start": 76, "end": 97}}]}}, "schema": []}
{"input": "In this work, we have analyzed two established body-cavity-based lymphoma or primary effusion lymphoma cell lines, BC-1 and BC-2, for the presence of intertypic EBV recombinants.", "output": {"entities": {"gene": [{"text": "BC-2", "start": 124, "end": 128}], "disease": [{"text": "lymphoma", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We measured var mRNA transcript levels by real-time Q-PCR, analysed var gene transcripts by single-cell FISH and directly compared these with PfEMP1 antigen surface expression and cytoadhesion in three different antibody-selected P. falciparum 3D7 sub-lines using live confocal microscopy, flow cytometry and in vitro adhesion assays.", "output": {"entities": {"gene": [{"text": "FISH", "start": 104, "end": 108}], "disease": [{"text": "adhesion", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Disruption of prion protein-HOP engagement impairs glioblastoma growth and cognitive decline and improves overall survival.", "output": {"entities": {"gene": [{"text": "HOP", "start": 28, "end": 31}], "disease": [{"text": "cognitive decline", "start": 75, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Carotid artery balloon angioplasty upregulated vascular expression of NPY and its processing enzyme (DPPIV/cd26) and receptors (Y1, Y2, Y5 mRNA and protein) within 6 to 24 hours and stimulated neointima formation and accumulation of NPY in platelets after 14 days.", "output": {"entities": {"gene": [{"text": "cd26", "start": 107, "end": 111}], "disease": [{"text": "neointima formation", "start": 193, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.", "output": {"entities": {"gene": [{"text": "hMLH1", "start": 0, "end": 5}], "disease": [{"text": "colorectal cancer", "start": 110, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMLH1", "start": 0, "end": 5}, "tail": {"text": "colorectal cancer", "start": 110, "end": 127}}]}}, "schema": []}
{"input": "Concomitant loss of miR-15/miR-16 and gain of miR-21 aberrantly activate TGF-β and Hedgehog signaling, that mediate local invasion, distant bone marrow colonization and osteolysis by prostate cancer cells.", "output": {"entities": {"gene": [{"text": "TGF-β", "start": 73, "end": 78}], "disease": [{"text": "osteolysis", "start": 169, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The aim was to determine ApoE and G-308A TNF-α gene polymorphisms in unrelated Croatian Caucasians: 207 patients with sporadic AD, 196 T2D patients and 456 healthy controls.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 41, "end": 46}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients.", "output": {"entities": {"gene": [{"text": "IDS", "start": 48, "end": 51}], "disease": [{"text": "Hunter syndrome", "start": 70, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDS", "start": 48, "end": 51}, "tail": {"text": "Hunter syndrome", "start": 70, "end": 85}}]}}, "schema": []}
{"input": "We also measured the induction of TIS genes by TPA and/or cycloheximide in Raw264. 7 mouse macrophage cells and U937 human histiocytic lymphoma cells.", "output": {"entities": {"gene": [{"text": "TPA", "start": 47, "end": 50}], "disease": [{"text": "histiocytic lymphoma", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietic protoporphyria (EPP) is an inherited defect of the ferrochelatase (FECH) gene characterized by the accumulation of toxic protoporphyrin in the liver and bone marrow resulting in severe skin photosensitivity.", "output": {"entities": {"gene": [{"text": "ferrochelatase", "start": 66, "end": 80}], "disease": [{"text": "Erythropoietic protoporphyria", "start": 0, "end": 29}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ferrochelatase", "start": 66, "end": 80}, "tail": {"text": "Erythropoietic protoporphyria", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "Near-diploid and near-triploid human sporadic colorectal adenocarcinomas differ for KRAS2 and TP53 mutational status.", "output": {"entities": {"gene": [{"text": "TP53", "start": 94, "end": 98}], "disease": [{"text": "sporadic", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Diffuse parvalbumin expression was seen in all 41 of 41 (100%) chromophobe RCCs and only in 26 of 55 (47%) oncocytomas.", "output": {"entities": {"gene": [{"text": "parvalbumin", "start": 8, "end": 19}], "disease": [{"text": "RCC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "parvalbumin", "start": 8, "end": 19}, "tail": {"text": "RCC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "LMW-E/CDK2 deregulates acinar morphogenesis, induces tumorigenesis, and associates with the activated b-Raf-ERK1/2-mTOR pathway in breast cancer patients.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 6, "end": 10}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In addition, individuals having slow NAT2 alleles had a significantly higher frequency of the typical smoking-related DNA adduct pattern, i. e.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 37, "end": 41}], "disease": [{"text": "smoking", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "When overexpressed in breast cancer cells, these forms of cyclin E induce genomic instability, resistance to inhibition by p21 and p27, and resistance to antiestrogen therapy.", "output": {"entities": {"gene": [{"text": "p21", "start": 123, "end": 126}], "disease": [{"text": "genomic instability", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results suggest that OPG silencing in carcinoma cancer cells occurs through epigenetic repression.", "output": {"entities": {"gene": [{"text": "OPG", "start": 43, "end": 46}], "disease": [{"text": "carcinoma", "start": 60, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrate that fos-related antigen-1 (Fra-1) plays a critical role in IL-6 induced CRC aggressiveness and epithelial-mesenchymal transition (EMT).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 90, "end": 94}], "disease": [{"text": "aggressiveness", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that interaction with the auxiliary subunit TRIP8b is a major mechanism underlying proper expression of HCN channels and I (h) in vivo, and suggest that targeting I (h) may provide a novel approach to treatment of depression.", "output": {"entities": {"gene": [{"text": "TRIP8b", "start": 67, "end": 73}], "disease": [{"text": "depression", "start": 237, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIP8b", "start": 67, "end": 73}, "tail": {"text": "depression", "start": 237, "end": 247}}]}}, "schema": []}
{"input": "Our results indicate that the two translocation breakpoints differ from each other and that the chromosomal break in t (X; 1)-positive papillary renal cell carcinoma is located between the markers PFC-TIMP-OATL1-SYP-TFE3 and DXS226-DXS146-DXS255-OATL2-DXS14.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 201, "end": 205}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Using a ribonomics approach, we identified a subset of elF3m-influenced genes and showed that the expression of two highly represented tumorigenesis-related genes, MIF and MT2, were affected by eIF3m at the mRNA level.", "output": {"entities": {"gene": [{"text": "MT2", "start": 172, "end": 175}], "disease": [{"text": "tumorigenesis", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These studies suggest that the dramatic abnormalities in EAAT2 may be due to translational or post-translational processes.", "output": {"entities": {"gene": [{"text": "EAAT2", "start": 57, "end": 62}], "disease": [{"text": "abnormalities", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates for the first time that impairment of angiogenesis and myocardial dysfunction can be regulated by Ad. Trx1 gene therapy in streptozotocin-induced diabetic rats subjected to infarction.", "output": {"entities": {"gene": [{"text": "Trx1", "start": 126, "end": 130}], "disease": [{"text": "infarction", "start": 197, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "A genome-wide association study identified inactivating phosphodiesterase (PDE) 11A (PDE11A)-sequencing defects as low-penetrance predisposing factors for iMAD and related abnormalities; we also described a mutation (c. 914A > C/H305P) in cyclic AMP (cAMP)-specific PDE8B, in a patient with iMAD.", "output": {"entities": {"gene": [{"text": "PDE11A", "start": 85, "end": 91}], "disease": [{"text": "abnormalities", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Misfolding of Notch3 is linked to endoplasmic reticulum stress and increased reactive oxygen species, which may result in dysfunction of endothelial cells, inflammation and ischemia.", "output": {"entities": {"gene": [{"text": "Notch3", "start": 14, "end": 20}], "disease": [{"text": "ischemia", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Mice with EC deletion of BMPR2 develop hypoxia-induced pulmonary hypertension that, in contrast to non-transgenic littermates, does not reverse upon reoxygenation and is associated with reduced PA microvessels and lung EC p53, PGC1α and TFAM, regulators of mitochondrial biogenesis, and mitochondrial DNA.", "output": {"entities": {"gene": [{"text": "TFAM", "start": 237, "end": 241}], "disease": [{"text": "pulmonary hypertension", "start": 55, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to assess the association of oestrogen receptor alpha (ER-α) gene polymorphisms and semen variables in infertile oligoasthenoteratozoospermic (OAT) men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 160, "end": 163}], "disease": [{"text": "infertile", "start": 120, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest a function of GLO1 in the regulation of detoxification and target adduction by the glycolytic byproduct methylglyoxal in malignant melanoma.", "output": {"entities": {"gene": [{"text": "GLO1", "start": 47, "end": 51}], "disease": [{"text": "malignant melanoma", "start": 154, "end": 172}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLO1", "start": 47, "end": 51}, "tail": {"text": "malignant melanoma", "start": 154, "end": 172}}]}}, "schema": []}
{"input": "In participants with severe COPD, SNPs in EPHX1 and SERPINE2 were associated with hypoxemia in two separate study populations, and SNPs from SFTPB were associated with pulmonary artery pressure in the NETT participants.", "output": {"entities": {"gene": [{"text": "EPHX1", "start": 42, "end": 47}], "disease": [{"text": "hypoxemia", "start": 82, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Behavioral and histological analyses showed that knockdown of the Drosophila homolog of GBA1 (dGBA1) exacerbates the locomotor dysfunction, loss of dopaminergic neurons and retinal degeneration of αSyn-expressing flies.", "output": {"entities": {"gene": [{"text": "GBA1", "start": 88, "end": 92}], "disease": [{"text": "retinal degeneration", "start": 173, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We report here the fusion between the NUP98 gene and another homeobox gene PMX1 in a case of human AML with a t (1; 11) (q23; p15) translocation.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 38, "end": 48}], "disease": [{"text": "translocation", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In this report, we exploited cancer-specific control of mRNA translation initiation in order to achieve enhanced replicative specificity of CRAd virotherapy agents.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 140, "end": 144}], "disease": [{"text": "cancer", "start": 29, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "As a result of the translocation, nucleotide base pair additions and deletions were detected at both breakpoint junction fragments, and an evolutionarily conserved VISTA enhancer element from 2p16. 1 was relocated at approximately 325 kb from the TRPS1 promoter.", "output": {"entities": {"gene": [{"text": "VISTA", "start": 164, "end": 169}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Cubam is a multi-ligand receptor involved in dietary uptake of intrinsic factor-vitamin B (12) in the small intestine and reabsorption of various low-molecular-weight proteins (such as albumin, transferrin, apolipoprotein A-I and vitamin D-binding protein) in the kidney.", "output": {"entities": {"gene": [{"text": "vitamin D-binding protein", "start": 230, "end": 255}], "disease": [{"text": "weight", "start": 160, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that the short nose, otitis media, and hearing impairment in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1.", "output": {"entities": {"gene": [{"text": "ETS1", "start": 140, "end": 144}], "disease": [{"text": "short nose", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Eight tumors showed negative staining for SDHB and positive staining for SDHA: a pancreatic neuroendocrine tumor, a macroprolactinoma, two gastric gastrointestinal stromal tumors, an abdominal ganglioneuroma, and three renal cell carcinomas.", "output": {"entities": {"gene": [{"text": "SDHA", "start": 73, "end": 77}], "disease": [{"text": "ganglioneuroma", "start": 193, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The expression of c-met mRNA was strong in the tissues of LEC rats with fulminant hepatitis and, especially, in the cholangiofibrosis tissues.", "output": {"entities": {"gene": [{"text": "LEC", "start": 58, "end": 61}], "disease": [{"text": "fulminant hepatitis", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Female European Americans with the TRPV1 Val (585) Val allele and males with low harm avoidance showed longer cold withdrawal times based on the classification and regression tree (CART) analysis.", "output": {"entities": {"gene": [{"text": "CART", "start": 181, "end": 185}], "disease": [{"text": "cold", "start": 110, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML).", "output": {"entities": {"gene": [{"text": "CBL", "start": 79, "end": 82}], "disease": [{"text": "developmental disorder", "start": 23, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CBL", "start": 79, "end": 82}, "tail": {"text": "developmental disorder", "start": 23, "end": 45}}]}}, "schema": []}
{"input": "We characterized cardiac expression of WDR12, used adenovirus-mediated WDR12 gene delivery to examine effects of WDR12 on left ventricular (LV) remodeling, and analyzed relationship between MI associated WDR12 allele and cardiac function in human subjects.", "output": {"entities": {"gene": [{"text": "WDR12", "start": 39, "end": 44}], "disease": [{"text": "adenovirus", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "ARFGEF2 encodes the large (> 200 kDa) brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is required for vesicle and membrane trafficking from the trans-Golgi network (TGN).", "output": {"entities": {"gene": [{"text": "TGN", "start": 172, "end": 175}], "disease": [{"text": "vesicle", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Overall, our study provides the new insight that miR-30c inhibited colon cancer cells via targeting ADAM19.", "output": {"entities": {"gene": [{"text": "ADAM19", "start": 100, "end": 106}], "disease": [{"text": "colon cancer", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The docking protein Gab2 is overexpressed and estrogen regulated in human breast cancer.", "output": {"entities": {"gene": [{"text": "docking protein", "start": 4, "end": 19}], "disease": [{"text": "breast cancer", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.", "output": {"entities": {"gene": [{"text": "CIAS1", "start": 130, "end": 135}], "disease": [{"text": "mild", "start": 16, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Forced CIITA expression restored the MHC-II antigen expression in 435-Lung2 cells and abrogates spontaneous lung metastasis in both SCID and nude mice but also affected the tumorigenicity in nude mice.", "output": {"entities": {"gene": [{"text": "CIITA", "start": 7, "end": 12}], "disease": [{"text": "lung metastasis", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Although the majority of data seem to show that HCV carriers with normal ALT have mild and stable disease, with a favourable prognosis, several studies reported a significant progression of fibrosis in approximately 20-30% of the patients with ALT normality, and the development of HCC in some cases has been described, despite persistent ALT normality.", "output": {"entities": {"gene": [{"text": "HCC", "start": 282, "end": 285}], "disease": [{"text": "fibrosis", "start": 190, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.", "output": {"entities": {"gene": [{"text": "KRT9", "start": 49, "end": 53}], "disease": [{"text": "EPPK", "start": 90, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT9", "start": 49, "end": 53}, "tail": {"text": "EPPK", "start": 90, "end": 94}}]}}, "schema": []}
{"input": "RAGE levels were measured in the bronchoalveolar lavage (BAL) and serum in the rats and in the pulmonary edema fluid and plasma from patients with acute lung injury (ALI; n = 22) and hydrostatic pulmonary edema (n = 11).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 0, "end": 4}], "disease": [{"text": "pulmonary edema", "start": 95, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "To report on a novel, accurate method for detecting microdeletion involving the DAZ gene in infertile men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 80, "end": 83}], "disease": [{"text": "infertile", "start": 92, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The p75 neurotrophin receptor (p75 (NTR)) contributes to diabetes mellitus-induced defective postischemic neovascularization.", "output": {"entities": {"gene": [{"text": "NTR", "start": 36, "end": 39}], "disease": [{"text": "neovascularization", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we provide the first evidence that miR-873 acts as a tumor suppressor by targeting KRAS and that miR-873-based gene therapy may be a therapeutic strategy in PDAC and TNBC.", "output": {"entities": {"gene": [{"text": "miR-873", "start": 50, "end": 57}], "disease": [{"text": "TNBC", "start": 181, "end": 185}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-873", "start": 50, "end": 57}, "tail": {"text": "TNBC", "start": 181, "end": 185}}]}}, "schema": []}
{"input": "In this review we will present the clinical features of Sotos syndrome cases with proven abnormalities in NSD1.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 106, "end": 110}], "disease": [{"text": "abnormalities", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families.", "output": {"entities": {"gene": [{"text": "ELMO2", "start": 48, "end": 53}], "disease": [{"text": "VMOS", "start": 198, "end": 202}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ELMO2", "start": 48, "end": 53}, "tail": {"text": "VMOS", "start": 198, "end": 202}}]}}, "schema": []}
{"input": "ITGA2 haplotype 2 (807C) and ITGA2B haplotype 1 (Ile (843)) were each associated with increased bleeding severity scores (P <. 01 and P <. 01, respectively).", "output": {"entities": {"gene": [{"text": "ITGA2", "start": 0, "end": 5}], "disease": [{"text": "bleeding", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).", "output": {"entities": {"gene": [{"text": "COCH", "start": 26, "end": 30}], "disease": [{"text": "DFNA9", "start": 94, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COCH", "start": 26, "end": 30}, "tail": {"text": "DFNA9", "start": 94, "end": 99}}]}}, "schema": []}
{"input": "Here we report three unrelated cases, two neurologically affected and one asymptomatic, with this abnormal metabolite pattern due either to mutations in the ETHE1 gene or to a short-chain acyl-CoA dehydrogenase (SCAD) defect.", "output": {"entities": {"gene": [{"text": "short-chain acyl-CoA dehydrogenase", "start": 176, "end": 210}], "disease": [{"text": "asymptomatic", "start": 74, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "However, he also has developmental delay, a refractive errors, dental defects, pectus carinatum, and skin abnormalities that have only been associated with linkeropathies caused by mutations in B4GALT6 and B4GALT7.", "output": {"entities": {"gene": [{"text": "B4GALT6", "start": 194, "end": 201}], "disease": [{"text": "pectus carinatum", "start": 79, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "To investigate the distribution of DAZ gene copy deletions among Chinese men, we analyzed DAZ gene deletions by multiplex polymerase chain reaction (multi-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 128 infertile patients with severe oligozoospermia selected as semen donors for intracytoplasmic sperm injection (ICSI) and 287 normospermic men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 35, "end": 38}], "disease": [{"text": "infertile", "start": 249, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 111, "end": 116}], "disease": [{"text": "X-linked hydrocephalus", "start": 15, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 111, "end": 116}, "tail": {"text": "X-linked hydrocephalus", "start": 15, "end": 37}}]}}, "schema": []}
{"input": "To characterize the role of PCs in endometrial cancer, we assessed expression of seven PCs (PC1/3, PC2, PACE4, PC4, furin, PC5/6 and PC7) by RT-PCR in six well characterized endometrial cancer cell lines.", "output": {"entities": {"gene": [{"text": "PC7", "start": 133, "end": 136}], "disease": [{"text": "endometrial cancer", "start": 35, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "With the biophysical characteristics of the human EMI domain-containing protein 2 (EMID2) gene in relation to the extracellular matrix deposition and epithelial-mesenchymal transition as pivotal characteristics of airway remodeling in asthma, we hypothesized that genetic polymorphisms of EMID2 might affect the development of AIA.", "output": {"entities": {"gene": [{"text": "EMID2", "start": 83, "end": 88}], "disease": [{"text": "airway remodeling", "start": 214, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "As αvβ6 integrin is capable of promoting both tissue fibrosis and carcinoma invasion, we examined its expression in fibroepithelial hyperplasia and OSF.", "output": {"entities": {"gene": [{"text": "OSF", "start": 148, "end": 151}], "disease": [{"text": "fibrosis", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "However, expression of TIM-1 and-3 is not restricted solely to T cells and the presence of TIM-3 in resident CNS cells may indicate a role for this molecule in the interaction between the nervous and immune systems.", "output": {"entities": {"gene": [{"text": "TIM-3", "start": 91, "end": 96}], "disease": [{"text": "nervous", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Angiotensin II-induced arterial thickening, fibrosis and stiffening involves elevated arginase function.", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 0, "end": 14}], "disease": [{"text": "fibrosis", "start": 44, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 0, "end": 14}, "tail": {"text": "fibrosis", "start": 44, "end": 52}}]}}, "schema": []}
{"input": "The mutation in our patient is the first reported affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome.", "output": {"entities": {"gene": [{"text": "EPG5", "start": 84, "end": 88}], "disease": [{"text": "Vici syndrome", "start": 144, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPG5", "start": 84, "end": 88}, "tail": {"text": "Vici syndrome", "start": 144, "end": 157}}]}}, "schema": []}
{"input": "miR-1202 is a primate-specific and brain-enriched microRNA involved in major depression and antidepressant treatment.", "output": {"entities": {"gene": [{"text": "miR-1202", "start": 0, "end": 8}], "disease": [{"text": "major depression", "start": 71, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-1202", "start": 0, "end": 8}, "tail": {"text": "major depression", "start": 71, "end": 87}}]}}, "schema": []}
{"input": "The objectives of the present study were, first, to clarify whether androgens are required in the development of hyperinsulinemia, insulin resistance, and hypertension in fructose-fed rats, and second, to determine if cyclooxygenase-1 and cyclooxygenase-2 are also increased in the arteries of these rats.", "output": {"entities": {"gene": [{"text": "cyclooxygenase-2", "start": 239, "end": 255}], "disease": [{"text": "hypertension", "start": 155, "end": 167}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "cyclooxygenase-2", "start": 239, "end": 255}, "tail": {"text": "hypertension", "start": 155, "end": 167}}]}}, "schema": []}
{"input": "The most commonly detected translocation involves fusion of EWSR1 to one of the genes encoding ETS family of transcription factors, usually FLI1 or ERG.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 60, "end": 65}], "disease": [{"text": "translocation", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Moreover, TK-/-TRAMP + prostate tumors exhibited decreased tumor vascularization relative to TK +/+ TRAMP + prostate tumors, which correlated with reduced levels of the angiogenic molecules vascular endothelial growth factor and CXCL2.", "output": {"entities": {"gene": [{"text": "TRAMP", "start": 15, "end": 20}], "disease": [{"text": "vascularization", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Cyclin E expression in tumors of BRCA1 or BRCA2 carriers is higher, and cyclin D1 expression lower, than in sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 42, "end": 47}], "disease": [{"text": "sporadic", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In addition, various kinds of hematopoietic cell lines, particularly the highly aggressive lymphoma/leukemia lines, lacked SHP1 expression in vitro, suggesting that loss of SHP1 expression may be related to not only malignant transformation, but also tumor cell aggressiveness.", "output": {"entities": {"gene": [{"text": "SHP1", "start": 123, "end": 127}], "disease": [{"text": "aggressive lymphoma", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel heterozygous missense mutation at 332T & gt; C in the keratin 13 gene believed to be related to the development of white sponge nevus.", "output": {"entities": {"gene": [{"text": "keratin 13", "start": 76, "end": 86}], "disease": [{"text": "white sponge nevus", "start": 137, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 13", "start": 76, "end": 86}, "tail": {"text": "white sponge nevus", "start": 137, "end": 155}}]}}, "schema": []}
{"input": "Given the homology to HRX/MLL1/ALL1 at 11q23 that is dysregulated by translocations in acute leukemia, we hypothesize that dysregulation of MMSET contributes to neoplastic transformation in MM with t (4; 14) translocation.", "output": {"entities": {"gene": [{"text": "MLL1", "start": 26, "end": 30}], "disease": [{"text": "neoplastic transformation", "start": 161, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "In women, TLR1, TLR3, TLR6, and TLR7 were associated with body mass index and TLR5, TLR7, and TLR10 were associated with total cholesterol to high-density lipoprotein ratio.", "output": {"entities": {"gene": [{"text": "TLR6", "start": 22, "end": 26}], "disease": [{"text": "body mass index", "start": 58, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "MicroRNA-125b-1 (miR-125b-1) is a target of a chromosomal translocation t (11; 14) (q24; q32) recurrently found in human B-cell precursor acute lymphoblastic leukemia (BCP-ALL).", "output": {"entities": {"gene": [{"text": "BCP", "start": 168, "end": 171}], "disease": [{"text": "chromosomal translocation", "start": 46, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Patients with the T allele in NQO1 * 2 (CT or TT genotypes) had a higher risk of bleeding than patients with the CC genotype (adjusted OR: 2. 25, 95% CI: 1. 37 to 3. 70, P = 0. 001).", "output": {"entities": {"gene": [{"text": "NQO1", "start": 30, "end": 34}], "disease": [{"text": "bleeding", "start": 81, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NQO1", "start": 30, "end": 34}, "tail": {"text": "bleeding", "start": 81, "end": 89}}]}}, "schema": []}
{"input": "BAL CD4 + T cells expressed IL-18Ralpha in a higher proportion than did paired CD8 + T cells in patients with sarcoidosis but not in control subjects.", "output": {"entities": {"gene": [{"text": "CD4", "start": 4, "end": 7}], "disease": [{"text": "sarcoidosis", "start": 110, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were analyzed for protein C (PC); protein S; antithrombin (AT); activated PC resistance (APCR); lipoprotein (a) [Lp (a)]; lupus anticoagulant; anticardiolipin antibodies; and the methylenetetrahydrofolate reductase C677T (MTHFR), factor V G1619A, factor II G20210A (PT), plasminogen activator inhibitor-1 4G6755G, and tissue factor pathway inhibitor C536T mutations.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 236, "end": 241}], "disease": [{"text": "lupus anticoagulant", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Cell migration and invasion ability in LOX inhibited HO8910 cells were investigated under hypoxia/reoxygenation conditions, using matrigel cell invasion and migration assays.", "output": {"entities": {"gene": [{"text": "LOX", "start": 39, "end": 42}], "disease": [{"text": "hypoxia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Similarly, subtle abnormalities in the function of the electroneutral sodium-(potassium)-chloride cotransporters (NKCC2 and NCCT) and the renal CLC-type chloride channels (CLC5) may be major determinants of urinary calcium excretion with roles in the pathogenesis of' idiopathic' hypercalciuria and osteoporosis.", "output": {"entities": {"gene": [{"text": "NCCT", "start": 124, "end": 128}], "disease": [{"text": "hypercalciuria", "start": 280, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "In conclusions, the increased levels of neutrophil-expressed and soluble forms of L-selectin in HD patients, and the intradialysis increase in sL-selectin and decrease in CD62L and neutrophil count are unrelated to HCV viremia.", "output": {"entities": {"gene": [{"text": "CD62L", "start": 171, "end": 176}], "disease": [{"text": "viremia", "start": 219, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of MDM2 in a sclerosing epithelioid fibrosarcoma: genetic, immunohistochemical and ultrastructural study of a case.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 18, "end": 22}], "disease": [{"text": "sclerosing epithelioid fibrosarcoma", "start": 28, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Our results show that CTCs typically represent a unique subpopulation of all BM clonal PCs, characterized by downregulation (P <. 05) of integrins (CD11a/CD11c/CD29/CD49d/CD49e), adhesion (CD33/CD56/CD117/CD138), and activation molecules (CD28/CD38/CD81).", "output": {"entities": {"gene": [{"text": "CD11a", "start": 148, "end": 153}], "disease": [{"text": "adhesion", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Reduced expression of glucocorticoid-inducible genes GILZ and SGK-1: high IL-6 levels are associated with reduced hippocampal volumes in major depressive disorder.", "output": {"entities": {"gene": [{"text": "SGK-1", "start": 62, "end": 67}], "disease": [{"text": "major depressive disorder", "start": 137, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SGK-1", "start": 62, "end": 67}, "tail": {"text": "major depressive disorder", "start": 137, "end": 162}}]}}, "schema": []}
{"input": "We then examined the functional consequences of Q110 IL-13 variant in combination with an atopy-associated variant of its receptor, IL-4R alpha (V50R551).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 53, "end": 58}], "disease": [{"text": "atopy", "start": 90, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Clinical and biochemical features, including intraoperative PTH levels, number, weight and size of the affected parathyroid gland (s), are crucial parameters to consider when rendering an accurate diagnosis of parathyroid proliferations.", "output": {"entities": {"gene": [{"text": "PTH", "start": 60, "end": 63}], "disease": [{"text": "weight", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We genotyped five PTTG1 haplotype-tagging SNPs (htSNP) by PCR-RFLP assays in a case-control study, which included 280 Han Chinese patients diagnosed with pituitary adenoma and 280 age-, gender-and geographically matched Han Chinese controls.", "output": {"entities": {"gene": [{"text": "PTTG1", "start": 18, "end": 23}], "disease": [{"text": "pituitary adenoma", "start": 154, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "1998b), we have now analyzed patients from a total of 36 families with incomplete CSNB and identified 20 different mutations in the calcium channel gene CACNA1F.", "output": {"entities": {"gene": [{"text": "CACNA1F", "start": 153, "end": 160}], "disease": [{"text": "CSNB", "start": 82, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1F", "start": 153, "end": 160}, "tail": {"text": "CSNB", "start": 82, "end": 86}}]}}, "schema": []}
{"input": "Although the entire PEX gene has not been identified and some mutations may have been missed, the lack of detection of mutations in the remaining 13 patients, especially in 1 patient who has an apparently balanced, de novo 9; 13 translocation, implies that there may be other loci involved in the generation of the HYP phenotype.", "output": {"entities": {"gene": [{"text": "PEX", "start": 20, "end": 23}], "disease": [{"text": "HYP", "start": 315, "end": 318}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEX", "start": 20, "end": 23}, "tail": {"text": "HYP", "start": 315, "end": 318}}]}}, "schema": []}
{"input": "We demonstrate that menadione causes GSTA1-JNK dissociation and JNK activation in preconfluent Caco-2 cells, whereas postconfluent cells are resistant to this effect.", "output": {"entities": {"gene": [{"text": "GSTA1", "start": 37, "end": 42}], "disease": [{"text": "dissociation", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Analysis of SNP in the TNIP1 gene and expression of this gene in peripheral blood lymphocytes indicated these SNP were associated with the occurrence of SLE in Han Chinese patients.", "output": {"entities": {"gene": [{"text": "TNIP1", "start": 23, "end": 28}], "disease": [{"text": "SLE", "start": 153, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNIP1", "start": 23, "end": 28}, "tail": {"text": "SLE", "start": 153, "end": 156}}]}}, "schema": []}
{"input": "Multiple logistic regressions revealed that both Fcgamma receptor and IL-6-174 polymorphisms were associated with increased odds of detecting A. actinomycetemcomitans, P. gingivalis, and T. forsythensis after adjustment for age, ethnicity, smoking, and periodontitis extent.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 70, "end": 74}], "disease": [{"text": "smoking", "start": 240, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to (1) compare the anorectic responses to the aforementioned 8-ketotrichothecenes following oral gavage at a common dose (2. 5 mg/kg bw) and (2) relate these effects to changes plasma CCK and PYY & #8323; & #8331; & #8323; & #8326; concentrations.", "output": {"entities": {"gene": [{"text": "CCK", "start": 214, "end": 217}], "disease": [{"text": "anorectic", "start": 49, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCK", "start": 214, "end": 217}, "tail": {"text": "anorectic", "start": 49, "end": 58}}]}}, "schema": []}
{"input": "The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 193, "end": 209}], "disease": [{"text": "leprechaunism", "start": 17, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 193, "end": 209}, "tail": {"text": "leprechaunism", "start": 17, "end": 30}}]}}, "schema": []}
{"input": "Long-term changes in catecholamine levels and expression of their biosynthetic enzymes are associated with several stress-related disorders such as elevated plasma norepinephrine in posttraumatic stress disorder and increased postmortem tyrosine hydroxylase in the locus coeruleus with major depression.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 237, "end": 257}], "disease": [{"text": "major depression", "start": 286, "end": 302}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine hydroxylase", "start": 237, "end": 257}, "tail": {"text": "major depression", "start": 286, "end": 302}}]}}, "schema": []}
{"input": "The loss of any one of the Gas6-Rs protects mice against thromboembolism induced by collagen-epinephrine and stasis-induced thrombosis.", "output": {"entities": {"gene": [{"text": "Gas6", "start": 27, "end": 31}], "disease": [{"text": "thromboembolism", "start": 57, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gas6", "start": 27, "end": 31}, "tail": {"text": "thromboembolism", "start": 57, "end": 72}}]}}, "schema": []}
{"input": "To investigate striatal and cortical pre-and postsynaptic dopaminergic function in parkin-linked parkinsonism, 13 unrelated patients homozygous or compound heterozygous for parkin mutations were studied with [(18) F] dopa and [(11) C] raclopride (RAC) PET.", "output": {"entities": {"gene": [{"text": "RAC", "start": 247, "end": 250}], "disease": [{"text": "parkinsonism", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Differential expression of human leukocyte antigen-G (HLA-G) messenger RNAs and proteins in normal human prostate and prostatic adenocarcinoma.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 54, "end": 59}], "disease": [{"text": "prostatic adenocarcinoma", "start": 118, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The earliest visible defect in the Pkd1 (-/-) reproductive tract was cystic dilation of the efferent ducts, which are derivatives of the mesonephric tubules.", "output": {"entities": {"gene": [{"text": "Pkd1", "start": 35, "end": 39}], "disease": [{"text": "dilation", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we sought to rigorously examine the PTH 3'-UTR in patients with primary and secondary parathyroid disorders, including primary parathyroid hyperplasia, secondary parathyroid hyperplasia, sporadic parathyroid adenoma and familial hypoparathyroidism of unknown genetic basis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 54, "end": 57}], "disease": [{"text": "parathyroid adenoma", "start": 207, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Recently, this translocation has been shown to represent a rearrangement of the EWS gene at 22q12 with a novel gene at 9q22 designated CHN (or TEC).", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 80, "end": 88}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Throughout damage-repairing process, ectopic MCT-1 cells displayed many larger chromosomes and multiple chromosomal fusions compared to the controls that showed increase in chromosomal breaks/gaps and minute chromosomal fragments.", "output": {"entities": {"gene": [{"text": "MCT-1", "start": 45, "end": 50}], "disease": [{"text": "chromosomal breaks", "start": 173, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of hsa-miR-29c were higher in normal gastric mucosal samples, and decreased progressively in non-atrophic chronic gastritis samples, intestinal metaplasia samples and intestinal-type gastric adenocarcinoma samples.", "output": {"entities": {"gene": [{"text": "hsa-miR-29c", "start": 25, "end": 36}], "disease": [{"text": "chronic gastritis", "start": 128, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Influence of smoking and donor age on the spectrum of in vivo mutation at the HPRT-locus in T lymphocytes of healthy adults.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 78, "end": 82}], "disease": [{"text": "smoking", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Inoculation with an Aβ42 vaccine was also found, for the first time, to result in a significant increase in plaque-independent astrocytic hyperplasia in the dorsal part of the lateral septal nucleus (LSD) which was also devoid of plaques, reflecting potential brain inflammatory processes.", "output": {"entities": {"gene": [{"text": "LSD", "start": 200, "end": 203}], "disease": [{"text": "plaque", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that genetic polymorphisms in the MDM2 promoter (309T--> G) and p53 coding region (72Arg--> Pro) are associated with susceptibility to esophageal and lung cancers.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 59, "end": 63}], "disease": [{"text": "esophageal", "start": 160, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The identification of putative COL4A2 mutations that might contribute to ICH in human patients provides insight into the pathogenic mechanisms of this disease.", "output": {"entities": {"gene": [{"text": "COL4A2", "start": 31, "end": 37}], "disease": [{"text": "ICH", "start": 73, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COL4A2", "start": 31, "end": 37}, "tail": {"text": "ICH", "start": 73, "end": 76}}]}}, "schema": []}
{"input": "Loss of Fat4 disrupts oriented cell divisions and tubule elongation during kidney development, leading to cystic kidney disease.", "output": {"entities": {"gene": [{"text": "Fat4", "start": 8, "end": 12}], "disease": [{"text": "cystic kidney disease", "start": 106, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fat4", "start": 8, "end": 12}, "tail": {"text": "cystic kidney disease", "start": 106, "end": 127}}]}}, "schema": []}
{"input": "Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T > C MTTK mutation.", "output": {"entities": {"gene": [{"text": "MTTK", "start": 170, "end": 174}], "disease": [{"text": "leukoencephalopathy", "start": 30, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCRalphabeta (+) CD4 (-) CD8 (-) T cells (DNT cells), and autoimmunity.", "output": {"entities": {"gene": [{"text": "CD4", "start": 171, "end": 174}], "disease": [{"text": "hypergammaglobulinemia", "start": 98, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry and tissue microarray technology were applied to a cohort of clinically annotated series of sporadic (n = 1849), BRCA1-mutated (n = 48), and BRCA2-mutated (n = 27) BC.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 162, "end": 167}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Pancreas of individuals with Johanson-Blizzard syndrome did not express UBR1 and had intrauterine-onset destructive pancreatitis.", "output": {"entities": {"gene": [{"text": "UBR1", "start": 72, "end": 76}], "disease": [{"text": "Johanson-Blizzard syndrome", "start": 29, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBR1", "start": 72, "end": 76}, "tail": {"text": "Johanson-Blizzard syndrome", "start": 29, "end": 55}}]}}, "schema": []}
{"input": "Here, we examined genome-wide and candidate gene associations with systolic blood pressure (SBP) and diastolic blood pressure (DBP) using the Candidate Gene Association Resource (CARe) consortium consisting of 8591 AAs.", "output": {"entities": {"gene": [{"text": "DBP", "start": 127, "end": 130}], "disease": [{"text": "systolic blood pressure", "start": 67, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.", "output": {"entities": {"gene": [{"text": "renin", "start": 177, "end": 182}], "disease": [{"text": "renal tubular dysgenesis", "start": 31, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "renin", "start": 177, "end": 182}, "tail": {"text": "renal tubular dysgenesis", "start": 31, "end": 55}}]}}, "schema": []}
{"input": "Mutation screening of SACS by direct sequencing and multiplex amplicon quantification for detection of intragenic copy number variations in a cohort of 85 index patients with phenotypes suggestive for ARSACS.", "output": {"entities": {"gene": [{"text": "SACS", "start": 22, "end": 26}], "disease": [{"text": "ARSACS", "start": 201, "end": 207}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SACS", "start": 22, "end": 26}, "tail": {"text": "ARSACS", "start": 201, "end": 207}}]}}, "schema": []}
{"input": "C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.", "output": {"entities": {"gene": [{"text": "C11orf70", "start": 0, "end": 8}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 113, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C11orf70", "start": 0, "end": 8}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 113, "end": 139}}]}}, "schema": []}
{"input": "There was strong evidence that linear regression and mendelian randomisation based estimation gave conflicting results for the CRP-BMI association (p = 0. 0002), and some evidence of conflicting results for the association of CRP with the score for insulin resistance (p = 0. 0139), triglycerides (p = 0. 0313), and HDL cholesterol (p = 0. 0688).", "output": {"entities": {"gene": [{"text": "CRP", "start": 127, "end": 130}], "disease": [{"text": "insulin resistance", "start": 249, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "We evaluated in vitro KGF production by human lung fibroblasts from patients with idiopathic pulmonary fibrosis (IPF, n = 10) and from control subjects (n = 7) at baseline and after IL-1beta stimulation.", "output": {"entities": {"gene": [{"text": "KGF", "start": 22, "end": 25}], "disease": [{"text": "pulmonary fibrosis", "start": 93, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KGF", "start": 22, "end": 25}, "tail": {"text": "pulmonary fibrosis", "start": 93, "end": 111}}]}}, "schema": []}
{"input": "CD13 was often detected in ETV6-RUNX1 with additional RUNX1 gain (38%) with an even higher frequency in double ETV6-RUNX1 translocation (77%), but was not detected in RUNX1 amplification (0%, P <. 05).", "output": {"entities": {"gene": [{"text": "CD13", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Recently, in one sporadic and four dominant cases, four different mutations including two frame shift mutations, two premature termination codons, and one splice site mutation in the mineralocorticoid receptor (MR) gene were identified.", "output": {"entities": {"gene": [{"text": "mineralocorticoid receptor", "start": 183, "end": 209}], "disease": [{"text": "sporadic", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "XBP1 confers an important role in protection against oxidative stress in gliomas, potentially via up-regulation of antioxidant molecules such as catalase.", "output": {"entities": {"gene": [{"text": "catalase", "start": 145, "end": 153}], "disease": [{"text": "gliomas", "start": 73, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "catalase", "start": 145, "end": 153}, "tail": {"text": "gliomas", "start": 73, "end": 80}}]}}, "schema": []}
{"input": "These results suggest that there is no significant relationship between the ACE inhibitor-induced cough and ACE gene polymorphism, plasma BK, SP and ACE inhibitor concentrations in patients with hypertension or chronic nephritis.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 108, "end": 116}], "disease": [{"text": "chronic nephritis", "start": 211, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "We performed routine karyotyping, IGF2 gene sequencing and investigated DNA methylation of the IGF2 differentially methylated region (DMR) 0 and H19 DMR using pyrosequencing, in four women selected for very low birth weight (<-3 SDS for gestational age), precocious pubarche, short adult stature (<-2 SDS), and insulin resistance (defined as HOMA-IS < 80%); and compared their methylation results to those of 95 control subjects.", "output": {"entities": {"gene": [{"text": "H19", "start": 145, "end": 148}], "disease": [{"text": "very low birth weight", "start": 202, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder.", "output": {"entities": {"gene": [{"text": "VIII", "start": 139, "end": 143}], "disease": [{"text": "deafness", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Co-existence of renovascular hypertension, polyarteritis nodosa, antiphospholipid syndrome and methylenetetrahydrofolate reductase mutation.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 95, "end": 130}], "disease": [{"text": "renovascular hypertension", "start": 16, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Our results strongly indicate that an additional i (9) (p10) is a new and recurrent primary chromosome anomaly in PV, and, in consideration of trisomy 9 being one of the most common anomalies in PV, amplification of a gene or genes on 9p, but not on 9q, may play a crucial role in the pathogenesis of PV.", "output": {"entities": {"gene": [{"text": "p10", "start": 56, "end": 59}], "disease": [{"text": "trisomy 9", "start": 143, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Our findings extend recently reported data indicating that seladin-1 overexpression directly enhances the resistance to Abeta toxicity featuring seladin-1/DHCR 24 as a possible new susceptibility gene for sporadic AD.", "output": {"entities": {"gene": [{"text": "seladin-1", "start": 59, "end": 68}], "disease": [{"text": "sporadic", "start": 205, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "By screening a tissue microarray of invasive breast tumors, we have shown that the receptor tyrosine kinase RET (REarranged during Transfection) and its coreceptor GFR alpha 1 (GDNF receptor family alpha-1) are overexpressed in a subset of estrogen receptor-positive tumors.", "output": {"entities": {"gene": [{"text": "GFR", "start": 164, "end": 167}], "disease": [{"text": "breast tumors", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In this cohort of Chinese patients with spastic paraplegia, SPAST and ATL1 mutations were found in 5 of 17 HSP probands with AD family history and in 2 of 19 sporadic HSP patients.", "output": {"entities": {"gene": [{"text": "ATL1", "start": 70, "end": 74}], "disease": [{"text": "sporadic", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.", "output": {"entities": {"gene": [{"text": "Telomerase reverse-transcriptase", "start": 0, "end": 32}], "disease": [{"text": "Hoyeraal-Hreidarsson syndrome", "start": 104, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Telomerase reverse-transcriptase", "start": 0, "end": 32}, "tail": {"text": "Hoyeraal-Hreidarsson syndrome", "start": 104, "end": 133}}]}}, "schema": []}
{"input": "Logistic regression was performed to investigate the association of smoking and selected susceptibility variants in the LT pathway including ALOX5AP, LTA4H, LTC4S, PON1, and LTA as well as CYP1A1 on CAD risk while controlling for age, gender, BMI, family history, diabetes, hyperlipidemia, and hypertension.", "output": {"entities": {"gene": [{"text": "LTA", "start": 150, "end": 153}], "disease": [{"text": "smoking", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively.", "output": {"entities": {"gene": [{"text": "PLCB1", "start": 46, "end": 51}], "disease": [{"text": "bipolar disorder", "start": 83, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLCB1", "start": 46, "end": 51}, "tail": {"text": "bipolar disorder", "start": 83, "end": 99}}]}}, "schema": []}
{"input": "Targeted sequencing and subcloning of NLRP3 amplicons confirmed the presence of the somatic mutation in whole blood at a ratio similar to the exome data.", "output": {"entities": {"gene": [{"text": "NLRP3", "start": 38, "end": 43}], "disease": [{"text": "somatic mutation", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "BMI, waist circumference (WC), waist-to-hip ratio, blood pressure, HDL or total cholesterol, triglycerides and FVII: ag levels were positively associated with alcohol intake in men (multivariate ANOVA).", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 195, "end": 200}], "disease": [{"text": "alcohol intake", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Several experimental studies have suggested that signal transducers and activators of transcription 1 and 4 (STAT1 and STAT4) play important roles in the regulation of mesangial proliferation and renal fibrosis, and in the development of inflammation in several types of glomerulonephritis.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 109, "end": 114}], "disease": [{"text": "inflammation", "start": 238, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "In addition, MSH2 1168T showed trends toward association with CRC and GC in young (< 50 yr) sporadic disease patients (OR = 10. 97 and 17. 15, respectively).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 13, "end": 17}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Lysophosphatidic acid (LPA) levels are elevated in ascites from ovarian cancer patients, but its potential role in ovarian cancer metastasis has just begun to be revealed.", "output": {"entities": {"gene": [{"text": "LPA", "start": 23, "end": 26}], "disease": [{"text": "ascites", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate the existence of two previously unidentified sst5 spliced variants with distinct distribution in normal tissues and pituitary tumors, unique ligand-selective signaling properties, and subcellular distribution, which could contribute to somatostatin and cortistatin signaling in normal and tumoral cells.", "output": {"entities": {"gene": [{"text": "cortistatin", "start": 277, "end": 288}], "disease": [{"text": "pituitary tumors", "start": 140, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Given that deregulated fatty acid metabolism plays a key role in kidney fibrosis, these results demonstrate a novel connection between fatty acid and Msi1, an RNA-binding protein, in kidney fibrosis.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 159, "end": 178}], "disease": [{"text": "kidney fibrosis", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (\" Cohen-like \" syndrome).", "output": {"entities": {"gene": [{"text": "COH1", "start": 16, "end": 20}], "disease": [{"text": "Cohen syndrome", "start": 86, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COH1", "start": 16, "end": 20}, "tail": {"text": "Cohen syndrome", "start": 86, "end": 100}}]}}, "schema": []}
{"input": "A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showed severe perturbations of copper metabolism with hypocupremia, hypoceruloplasminemia and liver copper accumulation, along with intrahepatic cholestasis.", "output": {"entities": {"gene": [{"text": "AP1S1", "start": 43, "end": 48}], "disease": [{"text": "intrahepatic cholestasis", "start": 202, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AP1S1", "start": 43, "end": 48}, "tail": {"text": "intrahepatic cholestasis", "start": 202, "end": 226}}]}}, "schema": []}
{"input": "Hydrogen peroxide treatment of β cell lines induced cytoplasmic translocation of MAFA and NKX6. 1.", "output": {"entities": {"gene": [{"text": "NKX6. 1", "start": 90, "end": 97}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The initial level of protein S-100b is not correlated with preoperative degree and duration of paresis or with functional outcome.", "output": {"entities": {"gene": [{"text": "protein S", "start": 21, "end": 30}], "disease": [{"text": "paresis", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.", "output": {"entities": {"gene": [{"text": "ITGB4", "start": 104, "end": 109}], "disease": [{"text": "epidermolysis bullosa with pyloric atresia", "start": 150, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB4", "start": 104, "end": 109}, "tail": {"text": "epidermolysis bullosa with pyloric atresia", "start": 150, "end": 192}}]}}, "schema": []}
{"input": "One hundred and thirty five cases (135) of colorectal carcinoma were studied for COX2-A1195G polymorphisms employing PCR-RFLP technique, in addition to 104 cases of adenomatous polyps and 115 matched controls taken from the general population.", "output": {"entities": {"gene": [{"text": "COX2", "start": 81, "end": 85}], "disease": [{"text": "adenomatous polyps", "start": 165, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our findings support the hypothesis that ENPP1-121Q is involved in the genetic susceptibility of T2D in the Tunisian population, while the PPARgamma-12Ala allele may confer protection against overweight.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 56, "end": 61}], "disease": [{"text": "overweight", "start": 207, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "A significant effect of the rs6196 polymorphism in the NR3C1 on weight (β =-4. 18; SE = 2. 02; p = 0. 018), BMI (β =-1. 88; SE = 0. 64; p = 0. 004), waist (β =-5. 77; SE = 1. 75; p = 0. 001) and waist/hip ratio (β =-0. 03; SE = 0. 012; p = 0. 009) was found.", "output": {"entities": {"gene": [{"text": "NR3C1", "start": 55, "end": 60}], "disease": [{"text": "weight", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Mechanisms of HIV non-progression; robust and sustained CD4 + T-cell proliferative responses to p24 antigen correlate with control of viraemia and lack of disease progression after long-term transfusion-acquired HIV-1 infection.", "output": {"entities": {"gene": [{"text": "CD4", "start": 56, "end": 59}], "disease": [{"text": "viraemia", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.", "output": {"entities": {"gene": [{"text": "GNPTG", "start": 91, "end": 96}], "disease": [{"text": "mucolipidosis type III gamma", "start": 104, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTG", "start": 91, "end": 96}, "tail": {"text": "mucolipidosis type III gamma", "start": 104, "end": 132}}]}}, "schema": []}
{"input": "Histological analyses revealed that Alox5 (-/-) mice had increased islet area, beta cell nuclear size, and numbers of beta cells/mm (2) islet (p < 0. 05), indicative of both hyperplasia and hypertrophy.", "output": {"entities": {"gene": [{"text": "Alox5", "start": 36, "end": 41}], "disease": [{"text": "hyperplasia", "start": 174, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We found that patients with DLBCL with the worst prognosis, according to the outcome predictor score, had decreased expression of catalase, glutathione peroxidase, manganese superoxide dismutase, and VDUP1, a protein that inhibits thioredoxin activity.", "output": {"entities": {"gene": [{"text": "VDUP1", "start": 200, "end": 205}], "disease": [{"text": "DLBCL", "start": 28, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VDUP1", "start": 200, "end": 205}, "tail": {"text": "DLBCL", "start": 28, "end": 33}}]}}, "schema": []}
{"input": "The analyses on the 28 individual SNPs previously associated with schizophrenia found that two SNPs in TCF4 returned a significant association with the SPEQ Paranoia dimension, rs17512836 (p-value & #8202; = & #8202; 2. 57 & #215; 10 & #8315; & #8308;) and rs9960767 (p-value & #8202; = & #8202; 6. 23 & #215; 10 & #8315; & #8308;).", "output": {"entities": {"gene": [{"text": "TCF4", "start": 103, "end": 107}], "disease": [{"text": "Paranoia", "start": 157, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TCF4", "start": 103, "end": 107}, "tail": {"text": "Paranoia", "start": 157, "end": 165}}]}}, "schema": []}
{"input": "Out of 251 infertile men, 57 (22. 7%) men were with varicocele, of which 8. 77% were azoospermic, 26. 31% were severely oligozoospermic, 21. 05% were mildly oligozoospermic, and 43. 85% were oligoasthenoteratozoospermic (OAT), and 194 (77. 29%), with idiopathic infertility, of which 51% were azoospermic, 13. 40% were severely oligozoospermic, 19. 07% were mildly oligozoospermic, and 16. 4% were with OAT.", "output": {"entities": {"gene": [{"text": "OAT", "start": 221, "end": 224}], "disease": [{"text": "infertility", "start": 262, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Our aims were to establish the frequency of KLF6 inactivation in sporadic and inflammatory bowel disease (IBD)-associated colorectal cancers (CRC); to correlate these abnormalities with mutation and/or loss of TP53, APC, and K-RAS; and to characterize the behavior of mutant KLF6 in colon-derived cell lines.", "output": {"entities": {"gene": [{"text": "TP53", "start": 210, "end": 214}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Mothers who consumed caffeine, oxidized CYP1A2 * 1F quickly, and acetylized NAT2 slowly had a nonsignificantly elevated estimated risk for an NTD-affected pregnancy (OR, 3. 10; 95% CI, 0. 86-11. 21).", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 40, "end": 46}], "disease": [{"text": "NTD", "start": 142, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A2", "start": 40, "end": 46}, "tail": {"text": "NTD", "start": 142, "end": 145}}]}}, "schema": []}
{"input": "128 subjects with Hp positive gastritis or peptic ulcers were randomly assigned to receive 10 mg rabeprazole twice daily with 1000 mg amoxicillin twice daily and 500 mg clarithromycin (RAC group) or 400 mg metronidazole (RAM group) twice daily for 1 week.", "output": {"entities": {"gene": [{"text": "RAM", "start": 221, "end": 224}], "disease": [{"text": "gastritis", "start": 30, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that the gastroprotective activity of amylin in some experimental models of gastric ulcers involves capsaicin-sensitive fibers and CGRP receptors.", "output": {"entities": {"gene": [{"text": "amylin", "start": 55, "end": 61}], "disease": [{"text": "gastric ulcers", "start": 93, "end": 107}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "amylin", "start": 55, "end": 61}, "tail": {"text": "gastric ulcers", "start": 93, "end": 107}}]}}, "schema": []}
{"input": "We performed molecular scanning of the human type 2 deiodinase (DIO2) gene and evaluated a novel variant for associations with obesity and insulin resistance, assessing both the main effect and interaction with the Trp64Arg beta-3--adrenergic receptor (ADRB3) variant.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 253, "end": 258}], "disease": [{"text": "insulin resistance", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Both male and female SOCS2 Tg mice displayed reduced locomotor hyperactivity after the administration of the dopamine releaser, amphetamine, compared to wildtype controls (WT).", "output": {"entities": {"gene": [{"text": "SOCS2", "start": 21, "end": 26}], "disease": [{"text": "hyperactivity", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In the present study, variants of the tyrosine hydroxylase (TH) and DOPA decarboxylase (DDC) genes (for TH: rs3842727, rs6356; for DDC: rs1451371, rs1470750, rs998850) were investigated in 111 suicide attempters and 289 healthy subjects to assess the involvement of the dopaminergic synthesis pathway in personality traits.", "output": {"entities": {"gene": [{"text": "DDC", "start": 88, "end": 91}], "disease": [{"text": "suicide", "start": 193, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Our data provide evidence that rosiglitazone considerably attenuates inflammatory responses after SE by suppressing CD40 expression and microglial activation.", "output": {"entities": {"gene": [{"text": "CD40", "start": 116, "end": 120}], "disease": [{"text": "SE", "start": 98, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD40", "start": 116, "end": 120}, "tail": {"text": "SE", "start": 98, "end": 100}}]}}, "schema": []}
{"input": "We hypothesized that usual interstitial pneumonia (UIP) and nonspecific interstitial pneumonia (NSIP), major pathologic patterns of chronic interstitial pneumonia, would have different expression profiles of TH1 and TH2 chemokines.", "output": {"entities": {"gene": [{"text": "TH1", "start": 208, "end": 211}], "disease": [{"text": "nonspecific interstitial pneumonia", "start": 60, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "MPI and coronary angiography revealed that 15 patients had chest pain with true ischemia and reversible myocardial perfusion defects (multiple and mild) but normal epicardial coronary arteries (microvascular angina), while 15 patients had significant coronary artery disease (CAD), and 20 hypertensive patients showed normal perfusion scan and coronary angiography.", "output": {"entities": {"gene": [{"text": "MPI", "start": 0, "end": 3}], "disease": [{"text": "ischemia", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Although the role of nuclear ASPP2-Bcl-2 complexes is still unclear, our results suggest that nuclear ASPP2 can prevent the translocation of the remaining Bcl-2 to the cytoplasm by binding to Bcl-2 in a CHOP-dependent manner, and this effect also contributes to Beclin-1-initiated autophagy.", "output": {"entities": {"gene": [{"text": "ASPP2", "start": 29, "end": 34}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We here review the evidence that the Nrf2/ARE signaling pathway plays an important role in vascular homeostasis and the defense of endothelial and smooth muscle cells against sustained oxidative stress associated with diseases such as atherosclerosis and preeclampsia.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 37, "end": 41}], "disease": [{"text": "preeclampsia", "start": 255, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, RASSF1A protein gradually decreased as multistep hepatocarcinogenesis progressed from chronic hepatitis/cirrhosis dysplastic nodules toward HCC, whereas the protein expression of YAP and AREG gradually increased.", "output": {"entities": {"gene": [{"text": "HCC", "start": 153, "end": 156}], "disease": [{"text": "chronic hepatitis", "start": 99, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Based on its function and animal studies, REC8, a key component of the meiotic cohesion complex, has been identified as a candidate male infertility gene.", "output": {"entities": {"gene": [{"text": "REC8", "start": 42, "end": 46}], "disease": [{"text": "male infertility", "start": 132, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "A high frequency of somatic mutation in GNAQ has been reported in uveal melanoma (UM).", "output": {"entities": {"gene": [{"text": "GNAQ", "start": 40, "end": 44}], "disease": [{"text": "somatic mutation", "start": 20, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype.", "output": {"entities": {"gene": [{"text": "Kiaa0556", "start": 55, "end": 63}], "disease": [{"text": "Joubert syndrome", "start": 90, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Kiaa0556", "start": 55, "end": 63}, "tail": {"text": "Joubert syndrome", "start": 90, "end": 106}}]}}, "schema": []}
{"input": "The results of the present study suggest that a reduction in Mfn2 mRNA expression contributes to paclitaxel-induced mechanical allodynia.", "output": {"entities": {"gene": [{"text": "Mfn2", "start": 61, "end": 65}], "disease": [{"text": "mechanical allodynia", "start": 116, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mfn2", "start": 61, "end": 65}, "tail": {"text": "mechanical allodynia", "start": 116, "end": 136}}]}}, "schema": []}
{"input": "Lamivudine plus rhIL-12 treatment was associated with a greater increase in virus-specific T-cell reactivity, IFN-gamma production, and an inverse correlation between the frequency of IFN-gamma-producing CD4 + T-cells and viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 204, "end": 207}], "disease": [{"text": "viremia", "start": 222, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "We conclude that women with the APOE * 4 polymorphism are at substantially increased risk of hip and wrist fracture that is not explained by bone density, impaired cognitive function, or falling.", "output": {"entities": {"gene": [{"text": "APOE", "start": 32, "end": 36}], "disease": [{"text": "bone density", "start": 141, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A > G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 167, "end": 172}], "disease": [{"text": "heart rate", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The expression of CD97, a member of the EGF-TM7 family with adhesive properties, is proportional to the aggressiveness and lymph node involvement in thyroid tumors.", "output": {"entities": {"gene": [{"text": "EGF", "start": 40, "end": 43}], "disease": [{"text": "aggressiveness", "start": 104, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We report the identification of two heterozygous mutations of the gene for Kir 1. 1 (ROMK) from an antenatal Bartter syndrome patient who presented at birth with mild salt wasting and a biochemical findings that mimicked primary pseudohypoaldosteronism type 1, such as hyperkalemia and hyponatremia, and evolved to a relatively benign course.", "output": {"entities": {"gene": [{"text": "ROMK", "start": 85, "end": 89}], "disease": [{"text": "pseudohypoaldosteronism type 1", "start": 229, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data reveal novel Egr-1 signaling that mediates the NF-& #954; B and AP-1 pathways to orchestrate PM-induced pulmonary inflammation and mucus hyperproduction, suggesting that Egr-1 inhibition could be an effective therapeutic approach for airway disorders or disease exacerbations induced by airborne particulate pollution.", "output": {"entities": {"gene": [{"text": "Egr-1", "start": 38, "end": 43}], "disease": [{"text": "pulmonary inflammation", "start": 129, "end": 151}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Egr-1", "start": 38, "end": 43}, "tail": {"text": "pulmonary inflammation", "start": 129, "end": 151}}]}}, "schema": []}
{"input": "Some studies have shown that families with germline mutations in the breast cancer susceptibility gene BRCA2 have an increased risk of breast and ovarian cancers, as well as a modestly increased risk of pancreatic cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 103, "end": 108}], "disease": [{"text": "breast cancer", "start": 69, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 103, "end": 108}, "tail": {"text": "breast cancer", "start": 69, "end": 82}}]}}, "schema": []}
{"input": "Gene Ontology (GO) enrichment analysis suggests diverse immunologic functions, linking CD14 (+ +) CD16 (+) monocytes to Ag processing and presentation (eg, CD74, HLA-DR, IFI30, CTSB), to inflammation and monocyte activation (eg, TGFB1, AIF1, PTPN6), and to angiogenesis (eg, TIE2, CD105).", "output": {"entities": {"gene": [{"text": "TIE2", "start": 275, "end": 279}], "disease": [{"text": "inflammation", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to investigate the inhibitory effect of TSA on myofibroblast differentiation and ECM production in nasal polyp organ cultures.", "output": {"entities": {"gene": [{"text": "TSA", "start": 70, "end": 73}], "disease": [{"text": "nasal polyp", "start": 129, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "C-terminal tensin-like (Cten) protein, a component of focal adhesions, contributes to cell motility and invasion in multiple human cancers.", "output": {"entities": {"gene": [{"text": "tensin", "start": 11, "end": 17}], "disease": [{"text": "cancers", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the relationship between peak bone mass and polymorphisms of the vitamin D receptor (VDR), estrogen receptor (ER) a, and collagen type Ialpha1 (COLIA1) genes in relation to other factors such as birth weight, lifestyle diet, and exercise in a population-based cohort of 216 women and 244 men in their early 20s.", "output": {"entities": {"gene": [{"text": "VDR", "start": 116, "end": 119}], "disease": [{"text": "birth weight", "start": 226, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Previously, we studied single-nucleotide polymorphisms present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence.", "output": {"entities": {"gene": [{"text": "PTHR2", "start": 121, "end": 126}], "disease": [{"text": "bone mineral density", "start": 143, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We tested if dimethylfumarate (DMF), an anti-psoriasis drug, could inhibit abnormal vascular remodeling via NF-E2-related factor 2 (Nrf2)-NAD (P) H quinone oxidoreductase 1 (NQO1) activity.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 132, "end": 136}], "disease": [{"text": "vascular remodeling", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to investigate the genetic factors in Korean atopic dermatitis patients by studying the human leucocyte antigen (HLA) class I association and polymorphisms of transporters associated with antigen presentation (TAP) and low-molecular-weight polypeptide (LMP) genes.", "output": {"entities": {"gene": [{"text": "TAP", "start": 240, "end": 243}], "disease": [{"text": "weight", "start": 263, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "The phenotypic characteristics of isolated growth hormone deficiency (IGHD) type IB in humans, such as autosomal recessive inheritance, time of onset of growth retardation, diminished secretion of growth hormone (GH) and IGF-I, proportional reduction in weight and size, and delay in sexual maturation, has much in common with the phenotype of the homozygous little/little (lit/lit) mouse.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 221, "end": 226}], "disease": [{"text": "weight", "start": 254, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the tumor necrosis factor-alpha gene is located on chromosome 6p21. 3, a region that has been found to be weakly associated with obsessive-compulsive disorder in linkage studies.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 36, "end": 46}], "disease": [{"text": "obsessive-compulsive disorder", "start": 139, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In hypoxia, mRNA expression of OXCT1, ACAT1, BDH1 and 2 was downregulated.", "output": {"entities": {"gene": [{"text": "ACAT1", "start": 38, "end": 43}], "disease": [{"text": "hypoxia", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "In addition, the coding regions of the VMD2 gene were completely sequenced in six probands with familial Best disease who showed no SSCP shift.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 39, "end": 43}], "disease": [{"text": "Best disease", "start": 105, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 39, "end": 43}, "tail": {"text": "Best disease", "start": 105, "end": 117}}]}}, "schema": []}
{"input": "Taking together, our data indicate that IL-33/IL-33R pathway is critically involved in mammary tumor growth by facilitating expression of pro-angiogenic VEGF in tumor cells and attenuating tumor necrosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 153, "end": 157}], "disease": [{"text": "mammary tumor", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization analysis demonstrated that the NUP98 gene at 11p15 was split by the translocation.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 66, "end": 76}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The MYBL2 gene encodes a transcription factor implicated in cell proliferation and maturation whose amplification or overexpression has been associated with different human malignancies, suggesting that it could be implicated in tumorigenesis.", "output": {"entities": {"gene": [{"text": "MYBL2 gene", "start": 4, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 229, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Brain endothelial overexpression of miR-146a diminished, whereas knockdown of miR-146a augmented cytokine-stimulated adhesion of T cells to hCMEC/D3 cells, nuclear translocation of NF-κB, and expression of adhesion molecules in hCMEC/D3 cells.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 181, "end": 186}], "disease": [{"text": "adhesion", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association between the ApoE and LDLR-R gene loci on coronary heart disease (CHD) and their interaction with alcohol drinking and smoking in Hans of Chinese.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 52, "end": 56}], "disease": [{"text": "alcohol drinking", "start": 128, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.", "output": {"entities": {"gene": [{"text": "SETBP1", "start": 0, "end": 6}], "disease": [{"text": "Schinzel-Giedion syndrome", "start": 43, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SETBP1", "start": 0, "end": 6}, "tail": {"text": "Schinzel-Giedion syndrome", "start": 43, "end": 68}}]}}, "schema": []}
{"input": "In this patient, early onset of HP was attributed to the presence of gene abnormalities in the CT and SPINK1 genes.", "output": {"entities": {"gene": [{"text": "SPINK1", "start": 102, "end": 108}], "disease": [{"text": "abnormalities", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Specific TP53 mutations in L3 domain alone (only in DFS) or in combination with specific Ki-ras mutations at codon 13 are associated with a worse prognosis in sporadic CRC.", "output": {"entities": {"gene": [{"text": "TP53", "start": 9, "end": 13}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the TGF-& #946; and LPS-induced miR-942 mediates HSC activation through downregulation of BAMBI in human liver fibrosis.", "output": {"entities": {"gene": [{"text": "miR-942", "start": 47, "end": 54}], "disease": [{"text": "liver fibrosis", "start": 120, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-942", "start": 47, "end": 54}, "tail": {"text": "liver fibrosis", "start": 120, "end": 134}}]}}, "schema": []}
{"input": "Modest overexpression of PN2/AbetaPP in transgenic mouse brain had no effect on intraluminal carotid arterial thrombosis but resulted in larger hematoma volumes and hemoglobin levels (23. 1 +/-2. 7 mm (3) [n = 6; P < 0. 01] and 1411 +/-202 microg/hemisphere [n = 12; P < 0. 01], respectively), compared with wild-type mice (15. 9 +/-2. 2 mm (3) [n = 6] and 935 +/-418 microg/hemisphere [n = 12], respectively).", "output": {"entities": {"gene": [{"text": "PN2", "start": 25, "end": 28}], "disease": [{"text": "arterial thrombosis", "start": 101, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "This is the third reported case of t (8; 9) (p11; q34) and raises the question of the role of c-abl in the pathogenesis of this myeloproliferative disorder.", "output": {"entities": {"gene": [{"text": "p11", "start": 45, "end": 48}], "disease": [{"text": "myeloproliferative disorder", "start": 128, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "P4HB", "start": 130, "end": 134}], "disease": [{"text": "SCA17", "start": 179, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P4HB", "start": 130, "end": 134}, "tail": {"text": "SCA17", "start": 179, "end": 184}}]}}, "schema": []}
{"input": "Now, we show 12 additional mutations consistent with a loss of function of the Na-Cl cotransporter in GS.", "output": {"entities": {"gene": [{"text": "Na-Cl cotransporter", "start": 79, "end": 98}], "disease": [{"text": "GS", "start": 102, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Na-Cl cotransporter", "start": 79, "end": 98}, "tail": {"text": "GS", "start": 102, "end": 104}}]}}, "schema": []}
{"input": "In this study, Hsp27, Hsp60, Hsp90α, and HspBP1 gene expression was investigated in human leukemia cell lines as well as in leukemia cells derived from patients with the onset of the disease.", "output": {"entities": {"gene": [{"text": "Hsp60", "start": 22, "end": 27}], "disease": [{"text": "leukemia", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Fifty percent of the variation in serum haptoglobin concentrations was explained by the variability in serum C-reactive protein concentrations, BMI, insulin sensitivity and haptoglobin genotypes.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 109, "end": 127}], "disease": [{"text": "insulin sensitivity", "start": 149, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "A group of sporadic breast carcinomas, with no alteration in TP53 locus, were analysed for the presence of LOH in D17S34 and D17S30/5 loci, mapped to the 17p13. 3 region, distinct from and telomeric to TP53.", "output": {"entities": {"gene": [{"text": "TP53", "start": 61, "end": 65}], "disease": [{"text": "sporadic", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "To date, the TRIF-deficient patients with HSE described herein have suffered from no other infections.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 13, "end": 17}], "disease": [{"text": "HSE", "start": 42, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIF", "start": 13, "end": 17}, "tail": {"text": "HSE", "start": 42, "end": 45}}]}}, "schema": []}
{"input": "Using a database of 735 colon and rectal cancers in the Nurse' s Health Study and the Health Professionals Follow-up Study, we examined the relationship of tumor SMO expression (assessed by immunohistochemistry) to prognosis, and to clinical, pathological, and tumor molecular features, including mutations of KRAS, BRAF, and PIK3CA, microsatellite instability, CpG island methylator phenotype (CIMP), LINE-1 methylation, and expression of phosphorylated AKT and CTNNB1.", "output": {"entities": {"gene": [{"text": "SMO", "start": 162, "end": 165}], "disease": [{"text": "microsatellite instability", "start": 334, "end": 360}]}, "relations": {}}, "schema": []}
{"input": "GT-094, a NO-NSAID, inhibits colon cancer cell growth by activation of a reactive oxygen species-microRNA-27a: ZBTB10-specificity protein pathway.", "output": {"entities": {"gene": [{"text": "ZBTB10", "start": 111, "end": 117}], "disease": [{"text": "colon cancer", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.", "output": {"entities": {"gene": [{"text": "acid sphingomyelinase", "start": 25, "end": 46}], "disease": [{"text": "type a Niemann-pick disease", "start": 60, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid sphingomyelinase", "start": 25, "end": 46}, "tail": {"text": "type a Niemann-pick disease", "start": 60, "end": 87}}]}}, "schema": []}
{"input": "Tyrosinase (TYR) is absolutely required for melanogenesis, but other melanosomal proteins, such as TYRP1, DCT, and gp100, also play important roles in regulating mammalian pigmentation.", "output": {"entities": {"gene": [{"text": "DCT", "start": 106, "end": 109}], "disease": [{"text": "pigmentation", "start": 172, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "An antisense oligonucleotide targeted to human Ku86 messenger RNA sensitizes M059K malignant glioma cells to ionizing radiation, bleomycin, and etoposide but not DNA cross-linking agents.", "output": {"entities": {"gene": [{"text": "Ku86", "start": 47, "end": 51}], "disease": [{"text": "malignant glioma", "start": 83, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of TES expression by small-interfering RNA promoted oxidized-LDL-mediated monocyte adhesion to ECs, EC migration and the transendothelial migration of monocytes, while the over-expression of TES in ECs blunted these processes.", "output": {"entities": {"gene": [{"text": "TES", "start": 13, "end": 16}], "disease": [{"text": "adhesion", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "[Serotonin type 2a (5-HTR2A) receptor gene polymorphism and personality traits in patients with endogenous psychoses].", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 22, "end": 27}], "disease": [{"text": "personality traits", "start": 60, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that LGR5 mRNA and protein expression was significantly over-expressed in 193/366 patients and 24/40mice model with primary colon cancer contrasted with matched normal tissues; significantly higher LGR5 gene expression was detected in pT4 cases than that in pT3 cases; PCNA and Ki67 expression was much more increase in colon cancer cells with positive LGR5 expression than those with negative LGR5 expression; LGR5 positive cancer not only in mice model but also in patients have shorter survival rate compared with LGR5 negative cancer.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 297, "end": 301}], "disease": [{"text": "colon cancer", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Conversely, chloroquine-treated VCPR155H/+ mice revealed progressive muscle weakness, cytoplasmic accumulation of TDP-43, ubiquitin-positive inclusion bodies and increased LC3-I/II, p62/SQSTM1, and optineurin expression levels.", "output": {"entities": {"gene": [{"text": "LC3", "start": 172, "end": 175}], "disease": [{"text": "progressive muscle weakness", "start": 57, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Most Crtl1 (tm1Nid/tm1Nid) mice died shortly after birth due to respiratory failure, but some survived and developed progressive dwarfism and lordosis of the cervical spine.", "output": {"entities": {"gene": [{"text": "Crtl1", "start": 5, "end": 10}], "disease": [{"text": "dwarfism", "start": 129, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Crtl1", "start": 5, "end": 10}, "tail": {"text": "dwarfism", "start": 129, "end": 137}}]}}, "schema": []}
{"input": "Haplotypes within MBL2, CRP, ADRB2, IL4R, NOS3, and VDR were significantly associated (FDR-P < 0. 05) with log (ACR) or albuminuria in at least one race/ethnic group.", "output": {"entities": {"gene": [{"text": "IL4R", "start": 36, "end": 40}], "disease": [{"text": "albuminuria", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "DCDF-FISH detected the NUP98-DDX10 rearrangement as two fusion signals, at the short and the long arms of the inv (11).", "output": {"entities": {"gene": [{"text": "NUP98", "start": 23, "end": 28}], "disease": [{"text": "arms", "start": 98, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Moreover, addition of rIL-18 led to upregulation of CD11a and ICAM-1 adhesion molecules, which were involved in the contact between eosinophils and Colo-205 cells.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 52, "end": 57}], "disease": [{"text": "adhesion", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Heterologous expression of STIM1 p. R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p. P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca (2 +)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.", "output": {"entities": {"gene": [{"text": "ORAI1", "start": 264, "end": 269}], "disease": [{"text": "Stormorken syndrome", "start": 231, "end": 250}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ORAI1", "start": 264, "end": 269}, "tail": {"text": "Stormorken syndrome", "start": 231, "end": 250}}]}}, "schema": []}
{"input": "We demonstrate that K13 upregulates the expression of a number of NF-κB responsive genes involved in cytokine signaling, cell death, adhesion, inflammation and immune response, including two NF-κB subunits involved in the alternate NF-κB pathway, RELB and NFKB2.", "output": {"entities": {"gene": [{"text": "NFKB2", "start": 256, "end": 261}], "disease": [{"text": "inflammation", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "These transforming IL27R mutants displayed equal or greater transforming activity than bona fide haemopoietic oncogenes such as BCR-ABL (breakpoint cluster region-Abelson murine leukaemia viral oncogene homologue) and JAK2-V617F.", "output": {"entities": {"gene": [{"text": "IL27R", "start": 19, "end": 24}], "disease": [{"text": "leukaemia", "start": 178, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin.", "output": {"entities": {"gene": [{"text": "thyrotropin receptor", "start": 56, "end": 76}], "disease": [{"text": "Familial gestational hyperthyroidism", "start": 0, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "thyrotropin receptor", "start": 56, "end": 76}, "tail": {"text": "Familial gestational hyperthyroidism", "start": 0, "end": 36}}]}}, "schema": []}
{"input": "The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 100, "end": 104}], "disease": [{"text": "Marfan syndrome", "start": 40, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 100, "end": 104}, "tail": {"text": "Marfan syndrome", "start": 40, "end": 55}}]}}, "schema": []}
{"input": "We then constructed recombinant adenovirus vectors, AdTTF-1 and ADTGTK: AdTTF-1 contained cytomegalovirus promoter and rat TTF-1 cDNA; AdTGTK carried the TG promoter-driven HSV-TK gene.", "output": {"entities": {"gene": [{"text": "TTF-1", "start": 54, "end": 59}], "disease": [{"text": "adenovirus", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 91, "end": 119}], "disease": [{"text": "leydig cell hypoplasia", "start": 123, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 91, "end": 119}, "tail": {"text": "leydig cell hypoplasia", "start": 123, "end": 145}}]}}, "schema": []}
{"input": "Here, we show that phosphatidylinositol (PI) 3-kinase is constitutively active and controls cell motility of highly invasive breast cancer cells by the activation of transcription factor, NF-kappaB.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 188, "end": 197}], "disease": [{"text": "invasive breast cancer", "start": 116, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the known C21orf5 homologous genes Aspergillus nidulans DopA, Saccharomyces cerevisiae Dop1 and Caenorhabditis elegans pad1, determine morphological abnormalities.", "output": {"entities": {"gene": [{"text": "C21orf5", "start": 23, "end": 30}], "disease": [{"text": "abnormalities", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "HTLV-I-specific CD8 (+) T cells have been characterized with high frequencies in peripheral blood and cerebrospinal fluid and production of proinflammatory cytokines, which contribute to central nervous system inflammation in HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP).", "output": {"entities": {"gene": [{"text": "CD8", "start": 16, "end": 19}], "disease": [{"text": "tropical spastic paraparesis", "start": 255, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "All these four patients had persistent neutrophilia without history of delayed cord separation and showed moderate expression of CD18 (19 to 68%) on neutrophils.", "output": {"entities": {"gene": [{"text": "CD18", "start": 129, "end": 133}], "disease": [{"text": "neutrophilia", "start": 39, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The observation that somatic p53 mutations in sporadic brain tumours are largely restricted to those of astrocytic origin and that astrocytomas also prevail among CNS neoplasms associated with p53 germline mutation strongly suggests, that p53 mutations are capable of initiating neoplastic transformation in astrocytes of the human nervous system.", "output": {"entities": {"gene": [{"text": "p53", "start": 29, "end": 32}], "disease": [{"text": "sporadic", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The TMPRSS2 Met160Val polymorphism is a genetic risk factor for sporadic prostate cancer in a Japanese population.", "output": {"entities": {"gene": [{"text": "TMPRSS2", "start": 4, "end": 11}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We have investigated 85 sporadic and 2 NF2 associated vestibular schwannomas, and one vagal schwannoma for chromosome 22 allele loss and NF2 gene mutations.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 137, "end": 145}], "disease": [{"text": "sporadic", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.", "output": {"entities": {"gene": [{"text": "glucose-6-phosphate translocase", "start": 148, "end": 179}], "disease": [{"text": "glycogen storage disease type Ib", "start": 22, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucose-6-phosphate translocase", "start": 148, "end": 179}, "tail": {"text": "glycogen storage disease type Ib", "start": 22, "end": 54}}]}}, "schema": []}
{"input": "The aim was to investigate upstream and downstream components of NIK transduction pathway in normal (NP), benign prostatic hyperplasia (BPH), prostatic intraepithelial neoplasia (PIN) and prostatic carcinoma (PC).", "output": {"entities": {"gene": [{"text": "NIK", "start": 65, "end": 68}], "disease": [{"text": "prostatic carcinoma", "start": 188, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "DDAH1, but not DDAH2, mRNA levels were reduced, whereas miR-21 levels were elevated in lung tissues from patients with pulmonary arterial hypertension and mice with pulmonary hypertension exposed to 2 weeks of hypoxia.", "output": {"entities": {"gene": [{"text": "DDAH1", "start": 0, "end": 5}], "disease": [{"text": "pulmonary hypertension", "start": 165, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Our findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome.", "output": {"entities": {"gene": [{"text": "NARS2", "start": 34, "end": 39}], "disease": [{"text": "nonsyndromic hearing loss", "start": 59, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NARS2", "start": 34, "end": 39}, "tail": {"text": "nonsyndromic hearing loss", "start": 59, "end": 84}}]}}, "schema": []}
{"input": "In this study, we investigated whether MMP-9 is critical for colitis-associated colon cancer (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 94, "end": 97}], "disease": [{"text": "colon cancer", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "No interaction between maternal NAT2 acetylator status and smoking or medication use was observed for orofacial cleft and spina bifida risk.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 32, "end": 36}], "disease": [{"text": "smoking", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Mice with overexpression of LPL in skeletal muscle accumulate TG in muscle, develop insulin resistance, are protected from excessive weight gain, and increase their metabolic rate in the cold.", "output": {"entities": {"gene": [{"text": "LPL", "start": 28, "end": 31}], "disease": [{"text": "insulin resistance", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We now show that the p53 protein in these cell hybrids was cytoplasmically sequestered and exhibited sporadic punctate staining, which is characteristic of the p53 expression pattern observed in neuroblastic neuroblastoma (NB) cell lines, in which p53 is also sequestered.", "output": {"entities": {"gene": [{"text": "p53", "start": 21, "end": 24}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "TLR2 and TLR3 expression as a biomarker for the risk of doxorubicin-induced heart failure.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 0, "end": 4}], "disease": [{"text": "heart failure", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR2", "start": 0, "end": 4}, "tail": {"text": "heart failure", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 112, "end": 118}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 112, "end": 118}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "Our data may be important for a better understanding of the contribution of reduced VGLUT1-mediated presynaptic glutamatergic neurotransmission in the generation of several behavioural abnormalities associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "VGLUT1", "start": 84, "end": 90}], "disease": [{"text": "schizophrenia", "start": 215, "end": 228}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGLUT1", "start": 84, "end": 90}, "tail": {"text": "schizophrenia", "start": 215, "end": 228}}]}}, "schema": []}
{"input": "Sotos syndrome is a childhood overgrowth syndrome characterized clinically by a distinctive facial gestalt, advanced bone age, childhood overgrowth, and non-progressive developmental delay; and genetically by haploinsufficiency of the Nuclear receptor binding SET Domain 1 (NSD1) gene.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 274, "end": 278}], "disease": [{"text": "non-progressive", "start": 153, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In addition, we show that PINK1 is detected in a proportion of Lewy bodies in cases of sporadic Parkinson' s disease and Parkinson' s disease associated with heterozygous mutations in the PINK1 gene, which are clinically and pathologically indistinguishable from the sporadic cases.", "output": {"entities": {"gene": [{"text": "PINK1 gene", "start": 188, "end": 198}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "A common variant in PAX6 is associated with reduced PAX6 and PCSK1 expression in human islets and reduced insulin response, as well as decreased glucagon and GIP concentrations and decreased insulin sensitivity.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 20, "end": 24}], "disease": [{"text": "insulin sensitivity", "start": 191, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that overexpression of SRF exclusively in astrocytes can improve neuronal plasticity in FASD.", "output": {"entities": {"gene": [{"text": "SRF", "start": 46, "end": 49}], "disease": [{"text": "FASD", "start": 111, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRF", "start": 46, "end": 49}, "tail": {"text": "FASD", "start": 111, "end": 115}}]}}, "schema": []}
{"input": "Our previous studies showed that loss of the enzymatic activity of HTRA2 due to a Ser276Cys missense mutation in its catalytic domain is associated with early onset neurodegeneration, multiple tissue atrophy and premature lethality in homozygous htra2 (mnd2) mice, suggesting that HTRA2 is neuroprotective.", "output": {"entities": {"gene": [{"text": "htra2", "start": 246, "end": 251}], "disease": [{"text": "neurodegeneration", "start": 165, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "FA inhalation did not modify the activities of GPX, GR, GST and CAT but reduced the activity of SOD when compared to the naïve group.", "output": {"entities": {"gene": [{"text": "CAT", "start": 64, "end": 67}], "disease": [{"text": "inhalation", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Nothing is yet known of the expression pattern or methylation status of the promoter region of BRCA2 in sporadic ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 95, "end": 100}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The PR isoforms positively correlated with the mRNA levels of HER/ErbB receptors and ligands associated with a more differentiated phenotype (HER3, HER4, EGF, AREG, NRG3 and NRG4) while they correlated negatively with those associated with aggressiveness (EGFR, TGFa, HB-EGF, EREG, and NRG2).", "output": {"entities": {"gene": [{"text": "EGF", "start": 154, "end": 157}], "disease": [{"text": "aggressiveness", "start": 240, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Recently, several mutations in apoptosis genes were identified as the cause of monogenic hearing impairment. These genes are TJP2, DFNA5 and MSRB3.", "output": {"entities": {"gene": [{"text": "MSRB3", "start": 141, "end": 146}], "disease": [{"text": "hearing impairment", "start": 89, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MSRB3", "start": 141, "end": 146}, "tail": {"text": "hearing impairment", "start": 89, "end": 107}}]}}, "schema": []}
{"input": "ATF5, in turn, promotes survival by stimulating transcription of myeloid cell leukemia sequence-1 (MCL1), an antiapoptotic B cell leukemia-2 family member.", "output": {"entities": {"gene": [{"text": "ATF5", "start": 0, "end": 4}], "disease": [{"text": "leukemia", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the OPG/RANK/RANKL axis may be involved in cardiac remodeling in immuno-inflammatory myocardial diseases and progression of chronic HF and thus may represent targets for intervention in this disorder.", "output": {"entities": {"gene": [{"text": "RANK", "start": 33, "end": 37}], "disease": [{"text": "myocardial diseases", "start": 110, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.", "output": {"entities": {"gene": [{"text": "EVC", "start": 117, "end": 120}], "disease": [{"text": "Ellis van Creveld syndrome", "start": 50, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC", "start": 117, "end": 120}, "tail": {"text": "Ellis van Creveld syndrome", "start": 50, "end": 76}}]}}, "schema": []}
{"input": "We investigated the effect of cardiac overexpression of rat RALT on cardiac hypertrophy induced by angiotensin II and isoproterenol in RALT transgenic mice and wild-type littermates.", "output": {"entities": {"gene": [{"text": "RALT", "start": 60, "end": 64}], "disease": [{"text": "cardiac hypertrophy", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined the effects of prenatal restraint stress on depression-like behavior in one-month offspring Sprague-Dawley rats and expression of ERK2, CREB, B-cell lymphoma-2 (Bcl-2) mRNA in the hippocampus, prefrontal cortex and striatum to explore the potential role of ERK-CREB pathway in mediating the behavioral effects of PS exposure.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 195, "end": 200}], "disease": [{"text": "depression", "start": 78, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 195, "end": 200}, "tail": {"text": "depression", "start": 78, "end": 88}}]}}, "schema": []}
{"input": "The X-linked Hyp and Gy mutations are murine homologues of X-linked hypophosphatemia (XLH), a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rickets, hypophosphatemia and decreased renal tubular maximum for Pi reabsorption relative to glomerular filtration rate (Tmp/GFR).", "output": {"entities": {"gene": [{"text": "GFR", "start": 305, "end": 308}], "disease": [{"text": "growth retardation", "start": 159, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Three polymorphisms in the peroxisome proliferator activated receptor alpha (PPARalpha) gene were investigated (L162V, G > A in intron 2 and G > C in intron 7), two in the apolipoprotein CIII (APOC3) gene (-482C > T and-455T > C) and one in the beta-fibrinogen (FIBB) gene (-455G > A).", "output": {"entities": {"gene": [{"text": "APOC3", "start": 193, "end": 198}], "disease": [{"text": "fibrinogen", "start": 250, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "In approximately 85% of Ewing sarcomas, chromosomal translocations give rise to the chimeric gene EWS/FLI, encoding the N-terminus of the RNA binding protein EWS fused to the DNA-binding domain of the ETS protein FLI-1.", "output": {"entities": {"gene": [{"text": "ETS protein", "start": 201, "end": 212}], "disease": [{"text": "sarcomas", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "INTRODUCTION: Impairments in facial emotion recognition (FER) have been reported in bipolar disorder (BD) during all mood states.", "output": {"entities": {"gene": [{"text": "FER", "start": 57, "end": 60}], "disease": [{"text": "bipolar disorder", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Immunofluorescence showed that heparanase and VEGF staining was intense in hypoxia-treated HRECs and OIR mice retina, while VEGF staining was faint in the normoxia and PI-88-treated ones.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 31, "end": 41}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "A region on chromosome 17 has recently been highlighted as linked to autism (MIM [209850]) in multiple studies and evidence has accumulated suggesting that male-only families (those families that have produced only affected males) provide the major contribution to linkage at this locus.", "output": {"entities": {"gene": [{"text": "MIM", "start": 77, "end": 80}], "disease": [{"text": "autism", "start": 69, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Type I (USH1) is characterized by a congenital, severe to profound hearing loss and absent vestibular function; in type II (USH2) the hearing loss is congenital and moderate to severe, and the vestibular function is normal.", "output": {"entities": {"gene": [{"text": "USH2", "start": 124, "end": 128}], "disease": [{"text": "absent vestibular function", "start": 84, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Association studies of positional candidate genes have implicated DCDC2 and KIAA0319 in DYX2, as well as C2ORF3 and MRPL19 (DYX3), whereas DYX1C1/EKN1 (DYX1) and ROBO1 (DYX5) were found to be disrupted by rare translocation breakpoints in reading-disabled individuals.", "output": {"entities": {"gene": [{"text": "DCDC2", "start": 66, "end": 71}], "disease": [{"text": "translocation", "start": 210, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "The A allele of the TNF-308 SNP was associated with increased risk of asthma [relative risk (RR) = 1. 54; 95% confidence interval (CI), 1. 04-2. 28], especially among children of non-smoking parents (RR = 2. 06; 95% CI, 1. 19-3. 55; p for interaction = 0. 09).", "output": {"entities": {"gene": [{"text": "TNF", "start": 20, "end": 23}], "disease": [{"text": "smoking", "start": 183, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 42, "end": 51}], "disease": [{"text": "haemophilia B", "start": 76, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 42, "end": 51}, "tail": {"text": "haemophilia B", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I).", "output": {"entities": {"gene": [{"text": "FKRP", "start": 0, "end": 4}], "disease": [{"text": "MDC1C", "start": 147, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKRP", "start": 0, "end": 4}, "tail": {"text": "MDC1C", "start": 147, "end": 152}}]}}, "schema": []}
{"input": "For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful.", "output": {"entities": {"gene": [{"text": "SURF1", "start": 111, "end": 116}], "disease": [{"text": "Leigh syndrome", "start": 18, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SURF1", "start": 111, "end": 116}, "tail": {"text": "Leigh syndrome", "start": 18, "end": 32}}]}}, "schema": []}
{"input": "In all subjects BMI, waist circumference, body composition by dual X-ray absorptometry, triglycerides, cholesterol, high-density lipoprotein cholesterol (HDL-Ch), glucose, insulin, homeostasis model assessment of insulin resistance (HOMA), high-sensitive C-reactive protein (hs-CRP), serum adiponectin, leptin and TNF-alpha were evaluated.", "output": {"entities": {"gene": [{"text": "CRP", "start": 278, "end": 281}], "disease": [{"text": "insulin resistance", "start": 213, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the same impairment in p53 induction is observed after exposure to mitomycin C, a chemical agent for which FA cells demonstrate a specific cellular and chromosomal hypersensitivity, as well as after u. v.-B irradiation, an agent known to cause oxidative stress.", "output": {"entities": {"gene": [{"text": "p53", "start": 33, "end": 36}], "disease": [{"text": "hypersensitivity", "start": 174, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The absence of the normal transcript in this cell line, in association with the loss-of-heterozygosity studies on chromosome 11q23 seen in solid tumors, suggests that ALL-1 is involved in tumorigenesis by a loss-of-function mechanism.", "output": {"entities": {"gene": [{"text": "ALL-1", "start": 167, "end": 172}], "disease": [{"text": "tumorigenesis", "start": 188, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Our results emphasize that the in vivo ECE-1-mediated degradation of CGRP promotes the transition from lung inflammation to fibrosis.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 69, "end": 73}], "disease": [{"text": "fibrosis", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In the PhIP-induced colon tumors obtained after 1 year, Nox1, Nox4, NF & #954; B-p50 and NF & #954; B-p65 were all highly overexpressed compared with their levels in adjacent normal-looking colonic mucosa.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 62, "end": 66}], "disease": [{"text": "colon tumors", "start": 20, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nox4", "start": 62, "end": 66}, "tail": {"text": "colon tumors", "start": 20, "end": 32}}]}}, "schema": []}
{"input": "Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 94, "end": 98}], "disease": [{"text": "Gillespie syndrome", "start": 137, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 94, "end": 98}, "tail": {"text": "Gillespie syndrome", "start": 137, "end": 155}}]}}, "schema": []}
{"input": "The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponutrin) gene has been implicated as a genetic determinant of the entire spectrum of liver diseases, ranging from steatosis, chronic hepatitis, cirrhosis and ultimately to HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 268, "end": 271}], "disease": [{"text": "chronic hepatitis", "start": 221, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "It was suggested that transfection with the antisense MBD1 gene eukaryotic expression plasmid can significantly reduce the expression level of MBD1 gene in QBC-939, and this study may provide a valid tool for the investigation of the function of MBD1 gene and its role in biliary tract carcinoma.", "output": {"entities": {"gene": [{"text": "MBD1 gene", "start": 54, "end": 63}], "disease": [{"text": "biliary tract carcinoma", "start": 272, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "A previous study reported that intravenous injection of anti-HMGB1 monoclonal antibody significantly attenuated brain edema in a rat model of stroke, possibly by attenuating glial activation.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 61, "end": 66}], "disease": [{"text": "brain edema", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "50 patients [HCC (n = 19), liver metastasis (n = 19), cholangiocellular cancer (n = 7), and benign liver tumors (n = 5)] were studied for methylation using Methylight analysis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 13, "end": 16}], "disease": [{"text": "liver metastasis", "start": 27, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We analyzed somatic genetic alterations of TP53 and p21 in 46 ovarian cancer patients with BRCA1 germline mutations and 93 sporadic patients, using direct sequencing for the entire coding sequences in TP53 and p21.", "output": {"entities": {"gene": [{"text": "TP53", "start": 43, "end": 47}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the loss of heterozygosity (LOH) of TP53 in a series of 96 sporadic colorectal carcinomas by means of PCR, using two microsatellite sequences (TP53 and Mfd152), to investigate its possible relationship with several clinicopathological variables in the Spanish population.", "output": {"entities": {"gene": [{"text": "TP53", "start": 53, "end": 57}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Western blotting, quantitative RT-PCR (qRT-PCR), ELISA, Immunohistochemistry, and flow-cytometric analysis were used to determine the key signaling pathway regulated by JAK2 for cervical cancer progression.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 169, "end": 173}], "disease": [{"text": "cervical cancer", "start": 178, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JAK2", "start": 169, "end": 173}, "tail": {"text": "cervical cancer", "start": 178, "end": 193}}]}}, "schema": []}
{"input": "We analyzed the possible association between aldosterone synthase (CYP11B2) T-344C polymorphism, which is associated with increased aldosterone activity, and the prevalence of atrial fibrillation (AF) in 196 consecutive patients who had symptomatic systolic heart failure (HF; left ventricular ejection fraction < 40%) for > or = 3 months before recruitment.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 67, "end": 74}], "disease": [{"text": "systolic heart failure", "start": 249, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: Our multi-approach findings at the DNA, RNA and protein levels suggest that CAV-1 may play a critical role in HCC carcinogenesis, and serve as a target for HCC therapy.", "output": {"entities": {"gene": [{"text": "CAV", "start": 88, "end": 91}], "disease": [{"text": "carcinogenesis", "start": 126, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We selected 46 variants: (1) eight variants known to alter circulating levels of inflammatory proteins, including those in the IL18, IL1RN, IL6R, MIF, PAI1 (also known as SERPINE1) and CRP genes; and (2) 38 variants known to predispose to autoimmune diseases, including type 1 diabetes.", "output": {"entities": {"gene": [{"text": "MIF", "start": 146, "end": 149}], "disease": [{"text": "type 1 diabetes", "start": 270, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "TGF-ß/Smad-3 independent up-regulation of CTGF may induce accumulation of ECM proteins and maintain fibrosis in chronic LS.", "output": {"entities": {"gene": [{"text": "ECM", "start": 74, "end": 77}], "disease": [{"text": "fibrosis", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Also, the data suggest that somatic mutation of FLASH is a rare event in gastric carcinomas.", "output": {"entities": {"gene": [{"text": "FLASH", "start": 48, "end": 53}], "disease": [{"text": "somatic mutation", "start": 28, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We report that p53 is required for the TNFalpha-mediated inhibition of myogenesis in vitro and contributes to muscle wasting in response to tumor load in vivo.", "output": {"entities": {"gene": [{"text": "p53", "start": 15, "end": 18}], "disease": [{"text": "muscle wasting", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that it may be possible to detect the recurring MSH2 and MSH6 mutations in Jewish individuals with familial and sporadic gastric and pancreatic cancer.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 64, "end": 68}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine whether the endothelial nitric oxide synthase (eNOS) T-786C single nucleotide polymorphism (SNP), implicated in cardiovascular disease susceptibility, could facilitate differentiation between small (< or = 5 mm) versus large (> or = 10 mm) ruptured aneurysms.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 35, "end": 68}], "disease": [{"text": "aneurysms", "start": 272, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "New translocations in a case of atypical B-cell chronic lymphocytic leukemia: involvement of ATM, MLL, and TP53 genes.", "output": {"entities": {"gene": [{"text": "TP53", "start": 107, "end": 111}], "disease": [{"text": "B-cell chronic lymphocytic leukemia", "start": 41, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 107, "end": 111}, "tail": {"text": "B-cell chronic lymphocytic leukemia", "start": 41, "end": 76}}]}}, "schema": []}
{"input": "Our data show preliminary evidence that NSF may predispose not only to cocaine dependence, but also to an early onset of the dependence.", "output": {"entities": {"gene": [{"text": "NSF", "start": 40, "end": 43}], "disease": [{"text": "cocaine dependence", "start": 71, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NSF", "start": 40, "end": 43}, "tail": {"text": "cocaine dependence", "start": 71, "end": 89}}]}}, "schema": []}
{"input": "A cohort of 98 patients with end stage renal disease (ESRD) awaiting kidney transplantation had pulse wave velocity (PWV) and augmentation index (AIX) examined by tonometry and endothelial dependent flow-mediated (FMD) and endothelial independent nitroglycerin-induced (NID) dilatory capacities of the brachial artery measured by ultrasound.", "output": {"entities": {"gene": [{"text": "NID", "start": 270, "end": 273}], "disease": [{"text": "end stage renal disease", "start": 29, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Our data argue that Arg1 plays a central role in the control of TB when NOS2 is rendered ineffective by hypoxia.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 72, "end": 76}], "disease": [{"text": "hypoxia", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Of 71 cases evaluated, 41 were \" ULD-like \" and five had SCARB2 mutations.", "output": {"entities": {"gene": [{"text": "SCARB2", "start": 57, "end": 63}], "disease": [{"text": "ULD", "start": 33, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCARB2", "start": 57, "end": 63}, "tail": {"text": "ULD", "start": 33, "end": 36}}]}}, "schema": []}
{"input": "However, there was no significant relationship between perilipin expression and blood NEFA, nor was there a significant relationship between perilipin expression and insulin resistance, using the insulin sensitivity index derived from the iv glucose tolerance test with minimal modeling.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 86, "end": 90}], "disease": [{"text": "insulin resistance", "start": 166, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "To determine the role of CSF hypocretin-1 in narcolepsy with and without cataplexy, Kleine-Levin syndrome (KLS), idiopathic and other hypersomnias, and several neurological conditions.", "output": {"entities": {"gene": [{"text": "KLS", "start": 107, "end": 110}], "disease": [{"text": "narcolepsy", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "To clarify this issue, we investigated five families with typical neuroserpin inclusion bodies but with various neurological manifestations.", "output": {"entities": {"gene": [{"text": "neuroserpin", "start": 66, "end": 77}], "disease": [{"text": "neurological manifestations", "start": 112, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that the LEP-2548A polymorphism may associate with the weight and BMI of the children with ISS and GHD.", "output": {"entities": {"gene": [{"text": "LEP", "start": 28, "end": 31}], "disease": [{"text": "weight", "start": 74, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The disappearance of the Apaf-1 and Caspase-9 gene was recovered by a cellular signaling inhibitor of protein kinase C, phosphatidylinositol 3-phosphate kinase and mitogen-activated protein kinase of the in vitro cultured human fibrosarcoma HT-1080 line.", "output": {"entities": {"gene": [{"text": "Apaf-1", "start": 25, "end": 31}], "disease": [{"text": "fibrosarcoma", "start": 228, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "These data indicate a long-lasting impairment of mGlu2/3 expression that may contribute to abnormal presynaptic plasticity, exaggerate glutamate release and hyperexcitability in temporal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "mGlu2", "start": 49, "end": 54}], "disease": [{"text": "temporal lobe epilepsy", "start": 178, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGlu2", "start": 49, "end": 54}, "tail": {"text": "temporal lobe epilepsy", "start": 178, "end": 200}}]}}, "schema": []}
{"input": "One patient with normal magnetic resonance imaging (MRI) but focal seizures underwent epilepsy surgery and seizure frequency dropped drastically.", "output": {"entities": {"gene": [{"text": "MRI", "start": 52, "end": 55}], "disease": [{"text": "epilepsy", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the PS1 intronic polymorphism did not modify the risk for sporadic AD, neither independently nor synergistically with the APOE epsilon4 allele or ACT A allele, in Koreans.", "output": {"entities": {"gene": [{"text": "ACT", "start": 161, "end": 164}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our results emphasized the usefulness of quantitative receptor determination suggesting the relative stability of EGF-R content during the clinical course of breast cancer, its independence from ER, its significant predictive and weak prognostic values, and a possible correlation with the aggressiveness of the disease, and response to non-endocrine treatments.", "output": {"entities": {"gene": [{"text": "EGF", "start": 114, "end": 117}], "disease": [{"text": "aggressiveness", "start": 290, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "The most consistent results are the increased gastric cancer risk associated with IL1B and NAT1 variants, which may account for up to 48% of attributable risk of gastric cancer.", "output": {"entities": {"gene": [{"text": "NAT1", "start": 91, "end": 95}], "disease": [{"text": "gastric cancer", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The prevention of both diabetes and thyroiditis by CD4 (+) CD45RC-peripheral cells and CD4 (+) CD8 (-) thymocytes therefore does not support the view that the mechanism of regulation involves a switch from a T helper cell type 1 (Th1) to a Th2-like response, but rather relies upon a specific suppression of the autoimmune responses involving TGF-beta and IL-4.", "output": {"entities": {"gene": [{"text": "CD4", "start": 51, "end": 54}], "disease": [{"text": "thyroiditis", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "CSF miR-16 in MDD patients was significantly lower than that in controls.", "output": {"entities": {"gene": [{"text": "miR-16", "start": 4, "end": 10}], "disease": [{"text": "MDD", "start": 14, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-16", "start": 4, "end": 10}, "tail": {"text": "MDD", "start": 14, "end": 17}}]}}, "schema": []}
{"input": "In this article, we considered the dihydrofolate reductase (DHFR) gene, previously seen implicated in NTDs, as a candidate for cleft lip with or without cleft palate (CL/P) risk.", "output": {"entities": {"gene": [{"text": "DHFR", "start": 60, "end": 64}], "disease": [{"text": "cleft palate", "start": 153, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We therefore studied HIF-1α overexpression in ductal carcinoma in situ (DCIS), an established precursor of invasive breast cancer. We used immunohistochemistry to examine the expression of the hypoxia markers HIF-1α, CAIX and Glut-1 in DCIS and available invasive carcinoma lesions of 32 BRCA1, 16 BRCA2 and 77 non-BRCA mutation-related cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 298, "end": 303}], "disease": [{"text": "invasive carcinoma", "start": 255, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the results suggest a new role of selenium in mitigating tumorigenesis by targeting the MMR pathway, whereby the lack of hMLH1 renders the HCT 116 colorectal cancer cells resistant to selenium-induced DNA damage response.", "output": {"entities": {"gene": [{"text": "MMR", "start": 104, "end": 107}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Nonketotic hyperglycinemia (NKH) is caused by a mutation in the genes encoding the components of the glycine cleavage multi-enzyme system.", "output": {"entities": {"gene": [{"text": "Nonketotic hyperglycinemia", "start": 0, "end": 26}], "disease": [{"text": "NKH", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Nonketotic hyperglycinemia", "start": 0, "end": 26}, "tail": {"text": "NKH", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "Values for tail length, tail DNA, CDM and OTM were modelled as categorical variables using the 50th and 75th percentiles of the seminoma group.", "output": {"entities": {"gene": [{"text": "OTM", "start": 42, "end": 45}], "disease": [{"text": "seminoma", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The influence of less severe hypoxia on the efficacy of CHK1 inhibitors, administered either as single agents or in combination with other treatments, remains to be investigated.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 56, "end": 60}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "To follow proinsulin immunoreactive material (PIM) in healthy siblings from the time of diagnosis of insulin-dependent diabetes mellitus (IDDM) in the proband, for at least 2 years.", "output": {"entities": {"gene": [{"text": "PIM", "start": 46, "end": 49}], "disease": [{"text": "insulin-dependent diabetes mellitus", "start": 101, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, this study has shown that increased myocardial expression of CYP11B2 mRNA is associated with increased myocardial fibrosis and with the severity of left ventricular dysfunction in human CHF.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 76, "end": 83}], "disease": [{"text": "myocardial fibrosis", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Loss of the Grx1 homolog also exacerbated the neurodegenerative phenotype in other C. elegans models, including overexpression of human α-synuclein and overexpression of tyrosine hydroxylase (a model of sporadic PD).", "output": {"entities": {"gene": [{"text": "Grx1", "start": 12, "end": 16}], "disease": [{"text": "sporadic", "start": 203, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "METHODS: Fasting lipid profiles, insulin sensitivity, insulin secretion, anthropometrics, blood pressure and 10 gene variations of the TCF7L2 gene were determined in 450 subjects with MetS.", "output": {"entities": {"gene": [{"text": "TCF7L2 gene", "start": 135, "end": 146}], "disease": [{"text": "blood pressure", "start": 90, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, PGG reduced expression of phosphoinositide 3-kinase (PI3K) as well as phosphorylation of AKT and mammalian target of rapamycin (mTOR), but not extracellular signal-regulated kinase (ERK) in LNCaP cells under hypoxic condition.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 110, "end": 139}], "disease": [{"text": "hypoxic", "start": 221, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutieres syndrome.", "output": {"entities": {"gene": [{"text": "TREX1", "start": 101, "end": 106}], "disease": [{"text": "Aicardi-Goutieres syndrome", "start": 132, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TREX1", "start": 101, "end": 106}, "tail": {"text": "Aicardi-Goutieres syndrome", "start": 132, "end": 158}}]}}, "schema": []}
{"input": "Presenile familial AD (FAD) and sporadic Alzheimer' s disease (SAD) have identical brain lesions, containing senile plaques with beta-amyloid (Abeta) peptide and neurofibrillary tangles formed by hyperphosphorylation of a microtubule-associated protein known as tau.", "output": {"entities": {"gene": [{"text": "FAD", "start": 23, "end": 26}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcription-polymerase chain reaction followed by agarose gel electrophoresis, single strand conformation polymorphism analysis, and automated deoxyribonucleic acid sequence analysis were used to screen for mutations in the NF2 gene transcript in seven unrelated patients with sporadic intramedullary spinal cord ependymomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 234, "end": 242}], "disease": [{"text": "sporadic", "start": 287, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "We carried out a 2-stage case-control study to examine the association between CDH7 and MDD in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "CDH7", "start": 79, "end": 83}], "disease": [{"text": "MDD", "start": 88, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH7", "start": 79, "end": 83}, "tail": {"text": "MDD", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "A number of genetic defects have recently been identified in primary aldosteronism, whereas we identified mutations in ARMC5, a tumor-suppressor gene, in cortisol-producing primary macronodular adrenal hyperplasia.", "output": {"entities": {"gene": [{"text": "ARMC5", "start": 119, "end": 124}], "disease": [{"text": "primary macronodular adrenal hyperplasia", "start": 173, "end": 213}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARMC5", "start": 119, "end": 124}, "tail": {"text": "primary macronodular adrenal hyperplasia", "start": 173, "end": 213}}]}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "P2RY2", "start": 249, "end": 254}], "disease": [{"text": "diabetes", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "It has been reported that transformation of melanocytes is associated with altered expression of adhesion molecules suggesting the potential involment of NECL-5 in melanoma development and prognosis.", "output": {"entities": {"gene": [{"text": "NECL-5", "start": 154, "end": 160}], "disease": [{"text": "adhesion", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Ataxia-telangiectasia and rad3 (ATR)-related Seckel syndrome is associated with growth retardation and premature aging features.", "output": {"entities": {"gene": [{"text": "ATR", "start": 32, "end": 35}], "disease": [{"text": "premature aging", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In cohort 1, retinoid X receptor-α (RXRA) chr9: 136355885 + and endothelial nitric oxide synthase (eNOS) chr7: 150315553 + methylation had independent associations with sex-adjusted childhood fat mass (exponentiated regression coefficient [β] 17% per SD change in methylation [95% CI 4-31], P = 0. 009, n = 64, and β = 20% [9-32], P < 0. 001, n = 66, respectively) and% fat mass (β = 10% [1-19], P = 0. 023, n = 64 and β = 12% [4-20], P = 0. 002, n = 66, respectively).", "output": {"entities": {"gene": [{"text": "RXRA", "start": 36, "end": 40}], "disease": [{"text": "regression", "start": 216, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The increase in GAT-1-ir somata in the CRH model and not in the hyperthermia model may reflect the difference in the duration of seizures.", "output": {"entities": {"gene": [{"text": "CRH", "start": 39, "end": 42}], "disease": [{"text": "seizures", "start": 129, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH", "start": 39, "end": 42}, "tail": {"text": "seizures", "start": 129, "end": 137}}]}}, "schema": []}
{"input": "PON-1 and ferroxidase activities in older patients with mild cognitive impairment, late onset Alzheimer' s disease or vascular dementia.", "output": {"entities": {"gene": [{"text": "ferroxidase", "start": 10, "end": 21}], "disease": [{"text": "vascular dementia", "start": 118, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "A similar virus enhancement ratio of 1. 2-1. 3 was observed for both oxic and hypoxic cells irradiated with multiple doses; however, these values were smaller than the values found for dominant-negative Ku70-transfected Rat-1 cells.", "output": {"entities": {"gene": [{"text": "Ku70", "start": 203, "end": 207}], "disease": [{"text": "hypoxic", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Region specific decrease in glial fibrillary acidic protein immunoreactivity in the brain of a rat model of depression.", "output": {"entities": {"gene": [{"text": "glial fibrillary acidic protein", "start": 28, "end": 59}], "disease": [{"text": "depression", "start": 108, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glial fibrillary acidic protein", "start": 28, "end": 59}, "tail": {"text": "depression", "start": 108, "end": 118}}]}}, "schema": []}
{"input": "As the RECQL4 gene is localized to chromosome 8q24, a site frequently amplified in sporadic breast cancers, we hypothesized that it may play an oncogenic role in breast tumourigenesis.", "output": {"entities": {"gene": [{"text": "RECQL4 gene", "start": 7, "end": 18}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.", "output": {"entities": {"gene": [{"text": "CD68", "start": 39, "end": 43}], "disease": [{"text": "obese", "start": 122, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD68", "start": 39, "end": 43}, "tail": {"text": "obese", "start": 122, "end": 127}}]}}, "schema": []}
{"input": "There were no differences in age, sex, AAP exposure, or body mass index between genotype groups.", "output": {"entities": {"gene": [{"text": "AAP", "start": 39, "end": 42}], "disease": [{"text": "body mass index", "start": 56, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Numerous allelotype studies indicate that allelic deletions Including the BRCA2 locus on chromosome 13q are common in ovarian cancers in general, suggesting that somatic mutations of this gene may be involved in sporadic ovarian tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 74, "end": 79}], "disease": [{"text": "tumorigenesis", "start": 229, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "In congenital hyperlipidemic mice, immunohistochemistry and RT-PCR demonstrated that ACAT2 was also present in lipid-laden cells of the atheromatous plaques.", "output": {"entities": {"gene": [{"text": "ACAT2", "start": 85, "end": 90}], "disease": [{"text": "atheromatous plaques", "start": 136, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "A total of 2, 189 individuals (65%) were eligible for testing, since they had no valid diagnosis, cerebral palsy, or a previous test for the FMR1 gene mutation.", "output": {"entities": {"gene": [{"text": "FMR1 gene", "start": 141, "end": 150}], "disease": [{"text": "cerebral palsy", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The rat model confirms Pde4d' s role in depression but not in spatial learning or memory enhancement and shows for the first time higher fear conditioning and altered extinction compared with controls.", "output": {"entities": {"gene": [{"text": "Pde4d", "start": 23, "end": 28}], "disease": [{"text": "depression", "start": 40, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pde4d", "start": 23, "end": 28}, "tail": {"text": "depression", "start": 40, "end": 50}}]}}, "schema": []}
{"input": "These results indicate that there are different oncogenic pathways in the MSI sporadic colorectal cancers with germline missense mutations in the hMSH2 gene.", "output": {"entities": {"gene": [{"text": "hMSH2", "start": 146, "end": 151}], "disease": [{"text": "colorectal cancers", "start": 87, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMSH2", "start": 146, "end": 151}, "tail": {"text": "colorectal cancers", "start": 87, "end": 105}}]}}, "schema": []}
{"input": "We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.", "output": {"entities": {"gene": [{"text": "thymic stromal lymphopoietin", "start": 256, "end": 284}], "disease": [{"text": "neutrophilia", "start": 453, "end": 465}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: CHEK2 I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We report here that this breakpoint is located within a 19 kb intron of the hREC2 gene and that the translocation results in the premature truncation of the major hREC2 transcript.", "output": {"entities": {"gene": [{"text": "hREC2", "start": 76, "end": 81}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The frequency and severity of adverse effects resulting from the administration of streptokinase and alteplase were determined in 126 consecutive patients who received standard dosages of these agents for the treatment of acute myocardial infarction.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 101, "end": 110}], "disease": [{"text": "myocardial infarction", "start": 228, "end": 249}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alteplase", "start": 101, "end": 110}, "tail": {"text": "myocardial infarction", "start": 228, "end": 249}}]}}, "schema": []}
{"input": "In the present study, we found that glycitein, a bacterial metabolite of the isoflavone glycitin, inhibits the expression of MMP-3 and MMP-9 at promoter, mRNA, and protein levels in PMA-stimulated U87MG human astroglioma cells.", "output": {"entities": {"gene": [{"text": "MMP-3", "start": 125, "end": 130}], "disease": [{"text": "astroglioma", "start": 209, "end": 220}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-3", "start": 125, "end": 130}, "tail": {"text": "astroglioma", "start": 209, "end": 220}}]}}, "schema": []}
{"input": "In the PAH rabbit model transfected with the HGF gene, hemodynamic abnormalities and right ventricular hypertrophy were prevented, as confirmed by invasive measurements and electrocardiographic examinations.", "output": {"entities": {"gene": [{"text": "HGF gene", "start": 45, "end": 53}], "disease": [{"text": "abnormalities", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We have observed the existence of promoter CpG island hypermethylation-associated silencing of PIWIL1, PIWIL2, PIWIL4, and TDRD1 in primary seminoma and non-seminoma testicular tumors, in addition to testicular germ cell tumor cell lines.", "output": {"entities": {"gene": [{"text": "PIWIL2", "start": 103, "end": 109}], "disease": [{"text": "testicular tumors", "start": 166, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "In this study, AIPL1 was screened for mutations in 512 unrelated probands with a range of retinal degenerative diseases to determine if AIPL1 mutations cause other forms of inherited retinal degeneration and to determine the relative contribution of AIPL1 mutations to inherited retinal disorders in populations worldwide.", "output": {"entities": {"gene": [{"text": "AIPL1", "start": 15, "end": 20}], "disease": [{"text": "retinal degeneration", "start": 183, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The roles of hypoxia and hypoxia inducible factor (HIF) in regulating the expression of CD44 and its variant isoforms (CD44v6, CD44v7/8) were investigated in human breast cancer cells, by quantitative real-time polymerase chain reaction (qRT-PCR) to determine mRNA levels, and fluorescence associated cell sorting (FACS) to determine cell surface expression of CD44, under normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "CD44", "start": 88, "end": 92}], "disease": [{"text": "hypoxic", "start": 386, "end": 393}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of eEF2 by short hairpin RNA (shRNA) significantly inhibited the growth in four eEF2-expressing cell lines, PC14 lung cancer, PCI6 pancreatic cancer, HT1080 fibrosarcoma and A172 glioblastoma cells, but not in eEF2-undetectable MCF7 cells.", "output": {"entities": {"gene": [{"text": "eEF2", "start": 13, "end": 17}], "disease": [{"text": "pancreatic cancer", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Characterization of FBN1 c. 5917 + 6T & gt; C in transfected HEK293 cells demonstrated that it caused skipping of exon 47, leading to the loss of the 33th calcium binding epidermal growth factor-like domain associated with Marfan syndrome.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 20, "end": 24}], "disease": [{"text": "Marfan syndrome", "start": 223, "end": 238}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 20, "end": 24}, "tail": {"text": "Marfan syndrome", "start": 223, "end": 238}}]}}, "schema": []}
{"input": "Transfection of cardiomyocytes with full length or truncated chimaeric gp130 cytoplasmic domain/Erythropoietin receptor (EpoR) extracellular domain fusion constructs showed that the membrane proximal Box 1 and Box 2 containing region of gp130 was necessary and sufficient for MAPK and PI3K activation; hypertrophy; SERCA2 expression and iNOS/NO induction in the absence of JAK/STAT activation.", "output": {"entities": {"gene": [{"text": "SERCA2", "start": 315, "end": 321}], "disease": [{"text": "hypertrophy", "start": 302, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether polymorphisms in XRCC1 alter DNA repair capacity and modify breast cancer risk associated with smoking.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 41, "end": 46}], "disease": [{"text": "smoking", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The detailed profile of alternative transcripts of GH2, CSH1, CSH2, and CSHL1 genes in placenta from uncomplicated term pregnancies of the REPROMETA sample collection was addressed in association with the birth weight of newborns, grouped as appropriate for gestational age (AGA; n = 23), small for gestational age (SGA; n = 15), and large for gestational age (LGA; n = 34).", "output": {"entities": {"gene": [{"text": "GH2", "start": 51, "end": 54}], "disease": [{"text": "birth weight", "start": 205, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "A further nine novel ATP6V0A4 mutations were found in \" sporadic \" cases.", "output": {"entities": {"gene": [{"text": "ATP6V0A4", "start": 21, "end": 29}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Renal function, diabetes prevalence, systolic blood pressure, heart rate and ejection fraction differed significantly in the high PTX3 (≥ 3. 0 ng/ml, n = 107) and low PTX3 (< 3. 0 ng/ml, n = 418) groups (all p < 0. 05).", "output": {"entities": {"gene": [{"text": "PTX3", "start": 130, "end": 134}], "disease": [{"text": "diabetes", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "To investigate atherosclerosis susceptibility associated with HDL deficiency alone and in combination with other risk factors, such as high levels of LDL, we have quantified diet-induced atherogenesis in a series of genetically engineered mice, including mice with low HDL levels due to targeted disruption of both apo A-I alleles (AI KO mice), mice with high LDL levels due to expression of a human apolipoprotein B transgene (Btg mice), and mice with combined high LDL and low HDL levels due to the presence of the human apo B transgene and apo A-I knockout alleles, respectively (AI KO/Btg mice).", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 400, "end": 416}], "disease": [{"text": "atherogenesis", "start": 187, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Transient transfection studies confirmed that mutant GPIX was not expressed on the transfected cells, showing that the mutation was responsible for the BSS phenotype observed in the patient.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 53, "end": 57}], "disease": [{"text": "BSS", "start": 152, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIX", "start": 53, "end": 57}, "tail": {"text": "BSS", "start": 152, "end": 155}}]}}, "schema": []}
{"input": "In schizophrenia, we confirmed and replicated significantly increased expression of TNFSF13 mRNA in the DLPFC.", "output": {"entities": {"gene": [{"text": "TNFSF13", "start": 84, "end": 91}], "disease": [{"text": "schizophrenia", "start": 3, "end": 16}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFSF13", "start": 84, "end": 91}, "tail": {"text": "schizophrenia", "start": 3, "end": 16}}]}}, "schema": []}
{"input": "Thus, CXCR4 represents an alternative pathway for MIF-mediated signal transduction during bladder inflammation.", "output": {"entities": {"gene": [{"text": "MIF", "start": 50, "end": 53}], "disease": [{"text": "bladder inflammation", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Probing pocket depth (PPD), clinical attachment loss (CAL), plaque accumulation (plaque%) and bleeding of probing were obtained.", "output": {"entities": {"gene": [{"text": "CAL", "start": 54, "end": 57}], "disease": [{"text": "plaque", "start": 60, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "PRDX2 was recently reported to be a negative regulator of platelet-derived growth factor signaling, and its silencing was suggested to be involved in melanomas.", "output": {"entities": {"gene": [{"text": "PRDX2", "start": 0, "end": 5}], "disease": [{"text": "melanomas", "start": 150, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRDX2", "start": 0, "end": 5}, "tail": {"text": "melanomas", "start": 150, "end": 159}}]}}, "schema": []}
{"input": "In a HFD model, DPP4-rats exhibited reduced adipose tissue inflammation and improved insulin resistance, which may be mediated in part by GIP induction of adiponectin.", "output": {"entities": {"gene": [{"text": "GIP", "start": 138, "end": 141}], "disease": [{"text": "insulin resistance", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The objective of our study was to assess the effect of promoter variations of HMOX1 and UGT1A1 genes and of serum bilirubin on the risk of sporadic colorectal cancer (CRC).", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 88, "end": 94}], "disease": [{"text": "sporadic", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In asymptomatic KCNQ1 mutation carriers, repolarization abnormalities are more evident in the QT peak than in the QT end interval during adrenergic adaptation, possibly related to transmural differences in the degree of I (Ks) block.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 16, "end": 21}], "disease": [{"text": "asymptomatic", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Heterozygotes of the FMR1 premutation have a higher incidence of immune mediated disorders such as autoimmune thyroid disorder, especially when accompanied by FXTAS motor signs.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 21, "end": 25}], "disease": [{"text": "thyroid disorder", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.", "output": {"entities": {"gene": [{"text": "N-acetylgalactosamine-6-sulfatase", "start": 44, "end": 77}], "disease": [{"text": "Morquio A syndrome", "start": 143, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "N-acetylgalactosamine-6-sulfatase", "start": 44, "end": 77}, "tail": {"text": "Morquio A syndrome", "start": 143, "end": 161}}]}}, "schema": []}
{"input": "On the basis of the intricate network of interactions between GADD45A, p53, and BRCA1, and the fact that both BRCA1 or TP53 mutations are involved in breast cancer tumorigenesis, we undertook the characterization of the entire coding sequence, intron/exon boundaries, and p53-and ZNF350-binding sequences of this potential breast cancer susceptibility candidate gene in a sample set of 96 women affected with breast cancer from non-BRCA1 and BRCA2 French Canadian families with a high risk of breast cancer and 95 healthy controls from the same population.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 442, "end": 447}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were associated with the degree of pleural thickening calcification (p = 0. 037 and p = 0. 035), and the CARD8 rs2043211 SNP with the greatest thickness of pleural plaques (p = 0. 015).", "output": {"entities": {"gene": [{"text": "TGFB1", "start": 58, "end": 63}], "disease": [{"text": "calcification", "start": 147, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGFB1", "start": 58, "end": 63}, "tail": {"text": "calcification", "start": 147, "end": 160}}]}}, "schema": []}
{"input": "CXCR4-usage (X4) was detected in 14/27 (52%) but no differences in CD4 cell change or plasma viremia were associated with X4-usage.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 0, "end": 5}], "disease": [{"text": "viremia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Investigation of manic and euthymic episodes identifies state-and trait-specific gene expression and STAB1 as a new candidate gene for bipolar disorder.", "output": {"entities": {"gene": [{"text": "STAB1", "start": 101, "end": 106}], "disease": [{"text": "manic", "start": 17, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAB1", "start": 101, "end": 106}, "tail": {"text": "manic", "start": 17, "end": 22}}]}}, "schema": []}
{"input": "To credential Stathmin 1 (STMN1) and p16 (INK4A) (p16) as adjunct markers for the diagnosis of serous tubal intraepithelial carcinoma (STIC), and to compare STMN1 and p16 expression in p53-positive and p53-negative STIC and invasive high-grade serous carcinoma (HGSC).", "output": {"entities": {"gene": [{"text": "STMN1", "start": 26, "end": 31}], "disease": [{"text": "serous carcinoma", "start": 244, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGF & #946; signaling in the pathogenesis of SGS.", "output": {"entities": {"gene": [{"text": "SKI", "start": 83, "end": 86}], "disease": [{"text": "SGS", "start": 180, "end": 183}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SKI", "start": 83, "end": 86}, "tail": {"text": "SGS", "start": 180, "end": 183}}]}}, "schema": []}
{"input": "In experimental immune glomerulonephritis, increased iNOS expression correlated with proteinuria levels, and appeared colocalized with NF-kappaB in glomerular and infiltrating cells.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 135, "end": 144}], "disease": [{"text": "proteinuria", "start": 85, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha changes the electrophysiological properties of myenteric neurones via cyclooxygenase metabolites and protein tyrosine phosphorylation; the cells primarily responding to the cytokine seem to be non-neuronal cells in the ganglion culture, which respond with a nuclear STAT5 translocation suggesting an action on gene transcription.", "output": {"entities": {"gene": [{"text": "STAT5", "start": 276, "end": 281}], "disease": [{"text": "ganglion", "start": 229, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "LIN28 and LIN28b facilitate cellular transformation in vitro, and overexpression is associated with advanced disease across multiple tumor types.", "output": {"entities": {"gene": [{"text": "LIN28b", "start": 10, "end": 16}], "disease": [{"text": "tumor", "start": 133, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIN28b", "start": 10, "end": 16}, "tail": {"text": "tumor", "start": 133, "end": 138}}]}}, "schema": []}
{"input": "The role of RAD9 in tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAD9", "start": 12, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Our results in the methadone group suggest (a) near-maximal stimulation of prolactin secretion, with a blunted prolactin response to insulin hypoglycemia, (b) mild suppression of cortisol levels, but an exaggerated cortisol response to stimulation, (c) a delayed and inhibited insulin response to food ingestion with resulting mild hyperglycemia, (d) low body weight, but elevated calorie ingestion, and (e) inability to concentrate urine when dehydrated, which was partially corrected by administration of arginine vasopressin.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 507, "end": 527}], "disease": [{"text": "dehydrated", "start": 444, "end": 454}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "arginine vasopressin", "start": 507, "end": 527}, "tail": {"text": "dehydrated", "start": 444, "end": 454}}]}}, "schema": []}
{"input": "Relevance of BCAR4 in tamoxifen resistance and tumour aggressiveness of human breast cancer.", "output": {"entities": {"gene": [{"text": "BCAR4", "start": 13, "end": 18}], "disease": [{"text": "breast cancer", "start": 78, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR4", "start": 13, "end": 18}, "tail": {"text": "breast cancer", "start": 78, "end": 91}}]}}, "schema": []}
{"input": "Recent studies showed that a 30-kDa mitochondrial phosphoprotein, designated steroidogenic acute regulatory protein (StAR), is essential for this translocation.", "output": {"entities": {"gene": [{"text": "steroidogenic acute regulatory protein", "start": 77, "end": 115}], "disease": [{"text": "translocation", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Two genome-wide association studies recently showed alcohol dependence to be associated with a single-nucleotide polymorphism (rs13273672) located on a gene (GATA4) that encodes a transcription factor of atrial natriuretic peptide (ANP).", "output": {"entities": {"gene": [{"text": "ANP", "start": 232, "end": 235}], "disease": [{"text": "alcohol dependence", "start": 52, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, it has been shown that after transient forebrain ischemia, cdk5 causes specific death of CA1 neurons in the rat hippocampus by direct phosphorylation of the NR2A subunit of the NMDA receptor and subsequent excitotoxicity.", "output": {"entities": {"gene": [{"text": "CA1", "start": 102, "end": 105}], "disease": [{"text": "ischemia", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Patients with AD with FLG LOF mutations are known to have more persistent disease, more severe disease, and greater risk of food allergies and eczema herpeticum.", "output": {"entities": {"gene": [{"text": "FLG", "start": 22, "end": 25}], "disease": [{"text": "food allergies", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Genetic correlations between plasma adiponectin HDL cholesterol and plasma insulin ranged from 15 to 24% but were not significant for fasting glucose, triglycerides, blood pressure, homeostasis model assessment of insulin resistance (HOMA-IR), and C-reactive protein.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 248, "end": 266}], "disease": [{"text": "insulin resistance", "start": 214, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "The human homolog of the Drosophila neural fate determination gene CASZ1, a zinc-finger transcription factor, maps to chromosome 1p36. 22, a region implicated in NB tumorigenesis.", "output": {"entities": {"gene": [{"text": "CASZ1", "start": 67, "end": 72}], "disease": [{"text": "tumorigenesis", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to determine left ventricular expression of CT-1 and its glycoprotein 130 (gp130)/leukemia inhibitory factor receptor complex in human end-stage heart failure due to ischemic and dilated cardiomyopathy.", "output": {"entities": {"gene": [{"text": "leukemia inhibitory factor receptor", "start": 106, "end": 141}], "disease": [{"text": "dilated cardiomyopathy", "start": 203, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "When the group with non-LC and no/mild fibrosis was used as controls, the ADH1B * 2-associated AORs increased according to the severity of their liver disease: 1. 67 (1. 32 to 2. 11) for the group with non-LC and serum type IV collagen values ≥ 200 ng/ml, 1. 81 (1. 24 to 2. 63) for the group of Child-Pugh class A LC, and 3. 17 (1. 98 to 5. 07) for the group with Child-Pugh class B/C LC.", "output": {"entities": {"gene": [{"text": "ADH1B", "start": 74, "end": 79}], "disease": [{"text": "mild", "start": 34, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 heterozygotes developed EOC at a younger age compared with BRCA2 heterozygotes and women who had sporadic ovarian carcinoma.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 65, "end": 70}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to determine whether polymorphisms of the CYP2C9 genotype are associated with the development of serious complications of NSAID-related ulcers.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 72, "end": 78}], "disease": [{"text": "ulcers", "start": 166, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "To investigate the prostaglandin E2 (PGE2) biosynthetic mechanism in bladder carcinogenesis, we established Wistar rat model of bladder papilloma and transitional cell carcinoma (TCC) induced by 5% terephthalic acid (TPA) treatment.", "output": {"entities": {"gene": [{"text": "TPA", "start": 217, "end": 220}], "disease": [{"text": "bladder papilloma", "start": 128, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Instead, we show that HIG2 decorates the hemimembrane of lipid droplets, whose number and size increase on hypoxic inhibition of fatty acid β-oxidation, and colocalizes with the lipid droplet proteins adipophilin and TIP47.", "output": {"entities": {"gene": [{"text": "adipophilin", "start": 201, "end": 212}], "disease": [{"text": "hypoxic", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "These observations suggested that genetic variants in the CCK gene might be a possible risk factor for smoking.", "output": {"entities": {"gene": [{"text": "CCK gene", "start": 58, "end": 66}], "disease": [{"text": "smoking", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "IL-4 is a determining factor in immunologic mechanisms to allergy and inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Though p53 codon 72 single-nucleotide polymorphism (SNP) did not affect general cancer risk or age of onset, arginine homozygozity, in contrast to proline homozygozity, was found to decrease breast cancer risk in the later onset sporadic cases.", "output": {"entities": {"gene": [{"text": "p53", "start": 7, "end": 10}], "disease": [{"text": "sporadic", "start": 229, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis directly, we investigated patients displaying the classic features of Laron syndrome (familial GH resistance characterized by severe dwarfism and metabolic dysfunction), except for the presence of normal binding activity of the plasma GH-binding protein, a molecule that derives from the exoplasmic-coding domain of the GHR gene.", "output": {"entities": {"gene": [{"text": "GHR", "start": 344, "end": 347}], "disease": [{"text": "Laron syndrome", "start": 94, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GHR", "start": 344, "end": 347}, "tail": {"text": "Laron syndrome", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "Recombinant TGF-β1 was capable of rescuing EMT and invasion that was inhibited by siRNA for Atg3 and 7 in HepG2 and BEL7402 cells under starvation.", "output": {"entities": {"gene": [{"text": "EMT", "start": 43, "end": 46}], "disease": [{"text": "starvation", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.", "output": {"entities": {"gene": [{"text": "ZMYND10", "start": 0, "end": 7}], "disease": [{"text": "primary ciliary dyskinesia", "start": 22, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZMYND10", "start": 0, "end": 7}, "tail": {"text": "primary ciliary dyskinesia", "start": 22, "end": 48}}]}}, "schema": []}
{"input": "After CDDP chemotherapy, among pathologic specimens in which MGMT expression was positive, necrosis rates were as follows: grade I, 5 cases (38%); grade II, 7 cases (25%); grade III, 15 cases (21%); grade IV, 2 cases (23%).", "output": {"entities": {"gene": [{"text": "MGMT", "start": 61, "end": 65}], "disease": [{"text": "necrosis", "start": 91, "end": 99}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MGMT", "start": 61, "end": 65}, "tail": {"text": "necrosis", "start": 91, "end": 99}}]}}, "schema": []}
{"input": "Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.", "output": {"entities": {"gene": [{"text": "RBM8A", "start": 113, "end": 118}], "disease": [{"text": "TAR syndrome", "start": 126, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RBM8A", "start": 113, "end": 118}, "tail": {"text": "TAR syndrome", "start": 126, "end": 138}}]}}, "schema": []}
{"input": "Therefore, modulation of MSR activity could have a beneficial effect on atherogenesis.", "output": {"entities": {"gene": [{"text": "MSR", "start": 25, "end": 28}], "disease": [{"text": "atherogenesis", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "These findings have significant implications for our understanding of GAS pathogenesis, and research aimed at therapeutic targeting of plasminogen activation in invasive bacterial infections.", "output": {"entities": {"gene": [{"text": "GAS", "start": 70, "end": 73}], "disease": [{"text": "bacterial infections", "start": 170, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "In larynx SCC, Smad7-patients did not reach mOS whereas mOS of Smad7 + patients were only 7. 0 months (P = 0. 04).", "output": {"entities": {"gene": [{"text": "Smad7", "start": 15, "end": 20}], "disease": [{"text": "larynx", "start": 3, "end": 9}]}, "relations": {}}, "schema": []}
{"input": "The cross-sectional association between APOE genotype and ankle-brachial index (ABI) and vascular disease prevalence; and the prospective relation with incident PAD and other types of vascular disease (coronary artery disease, stroke and vascular mortality) were evaluated in 7418 patients from the Secondary Manifestations of ARTerial disease (SMART) study.", "output": {"entities": {"gene": [{"text": "APOE", "start": 40, "end": 44}], "disease": [{"text": "ankle-brachial index", "start": 58, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, ≈ 20% of the altered ncRNAs mapped to three imprinted regions (Snrpn-Ube3a, Dlk1-Dio3 and Sfmbt2) that showed differential methylation and have been previously implicated in neurodevelopmental disorders.", "output": {"entities": {"gene": [{"text": "Dlk1", "start": 89, "end": 93}], "disease": [{"text": "neurodevelopmental disorders", "start": 187, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "A hematological screening for alpha-thal should be considered in patients with mild developmental delay and a suggestive phenotype of ATR-16 with microcytic hypochromic anemia and normal iron status.", "output": {"entities": {"gene": [{"text": "ATR", "start": 134, "end": 137}], "disease": [{"text": "mild", "start": 79, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In the present study we analyzed 266 spontaneously arising breast carcinomas for allelic losses in the BRCA1 and TP53 regions on chromosome 17, the BRCA2 region on chromosome 13, the ATM (mutated in ataxia-telangiectasia) region on chromosome 11 and on the chromosomal arms 7q and 16q.", "output": {"entities": {"gene": [{"text": "ATM", "start": 183, "end": 186}], "disease": [{"text": "arms", "start": 269, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Forty-eight h after MCAO, infarct volume by MRI, neuronal survival, inflammation factors and neurotrophin receptor (TrkB) were analysed.", "output": {"entities": {"gene": [{"text": "MRI", "start": 44, "end": 47}], "disease": [{"text": "inflammation", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We describe a new technique, based on the host cell reactivation assay, for the rapid determination of the complementation group of NER-deficient xeroderma pigmentosum (XP), Cockayne' s syndrome (CS) and photosensitive trichothiodystrophy (TTD) human cells by cotransfection of a UV-irradiated reporter plasmid with a second vector containing a cloned repair gene.", "output": {"entities": {"gene": [{"text": "NER", "start": 132, "end": 135}], "disease": [{"text": "photosensitive trichothiodystrophy", "start": 204, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Transgenic expression of Cd36 in the new lines was associated with significantly decreased serum fatty acids, amelioration of insulin resistance and glucose intolerance but failed to induce any consistent changes in blood pressure as measured by radiotelemetry.", "output": {"entities": {"gene": [{"text": "Cd36", "start": 25, "end": 29}], "disease": [{"text": "glucose intolerance", "start": 149, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cd36", "start": 25, "end": 29}, "tail": {"text": "glucose intolerance", "start": 149, "end": 168}}]}}, "schema": []}
{"input": "Interviews were done and records were reviewed for the following variables: gender, ethnicity, hypertension, triglycerides, cholesterol, smoking, diabetes mellitus, homocysteine, cancer, hepatitis C, hormone replacement therapy/oral contraceptives, hereditary thrombophilia, anticardiolipin antibodies IgG, IgM and IgA, and lupus anticoagulant (LAC).", "output": {"entities": {"gene": [{"text": "LAC", "start": 345, "end": 348}], "disease": [{"text": "smoking", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Expression of TRF1, TRF2, TIN2, TERT, KU70, and BRCA1 proteins is associated with telomere shortening and may contribute to multistage carcinogenesis of gastric cancer.", "output": {"entities": {"gene": [{"text": "TIN2", "start": 26, "end": 30}], "disease": [{"text": "carcinogenesis", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The atherosclerotic lesion was significantly alleviated by NR1 treatment and this attenuation was marked by reduction in lipid deposition, fibrosis and oxidative stress.", "output": {"entities": {"gene": [{"text": "NR1", "start": 59, "end": 62}], "disease": [{"text": "atherosclerotic lesion", "start": 4, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We tested seven regions selected from the shortlist of genes hypomethylated in HCC and showed that HRM analysis of several of them distinguishes methylation states in liver cancer specimens from normal adjacent liver and chronic hepatitis in the Shanghai area.", "output": {"entities": {"gene": [{"text": "HCC", "start": 79, "end": 82}], "disease": [{"text": "chronic hepatitis", "start": 221, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "The observed increase in the expression of CADPS2 may be related to the impaired synaptic function in schizophrenia.", "output": {"entities": {"gene": [{"text": "CADPS2", "start": 43, "end": 49}], "disease": [{"text": "schizophrenia", "start": 102, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CADPS2", "start": 43, "end": 49}, "tail": {"text": "schizophrenia", "start": 102, "end": 115}}]}}, "schema": []}
{"input": "We demonstrated that Ad-IL-24 induced significant growth inhibition and apoptosis, upregulated the expression of P21, P27, and Bax, downregulated Bcl-2 expression, and activated caspase-3 in Hep-2 laryngeal tumor cells, while it exerted no direct effect on the in vitro proliferation of WI-38 normal diploid cells.", "output": {"entities": {"gene": [{"text": "P21", "start": 113, "end": 116}], "disease": [{"text": "laryngeal tumor", "start": 197, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetics and array comparative genomic hybridization (aCGH) studies have revealed the same partial Xq monosomy and partial 18q trisomy in both the 32-year-old female with DOR and the unaffected mother.", "output": {"entities": {"gene": [{"text": "DOR", "start": 175, "end": 178}], "disease": [{"text": "monosomy", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Glutathione S-transferase mu2 suppresses cancer cell metastasis in non-small cell lung cancer.", "output": {"entities": {"gene": [{"text": "mu2", "start": 26, "end": 29}], "disease": [{"text": "metastasis", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Similar outcomes were identified in BRCA2 carriers and those with sporadic disease in multivariable analyses.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 36, "end": 41}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Complexin I expression is dysregulated in a number of neurological diseases including schizophrenia and depression.", "output": {"entities": {"gene": [{"text": "Complexin I", "start": 0, "end": 11}], "disease": [{"text": "depression", "start": 104, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Complexin I", "start": 0, "end": 11}, "tail": {"text": "depression", "start": 104, "end": 114}}]}}, "schema": []}
{"input": "Tumors samples were analyzed for methylation in LINE-1 and 16 CpG islands (CACNA1G, CDKN2A [p16], CRABP1, IGF2, MLH1, NEUROG1, RUNX3, SOCS1, CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14 [ARF], and WRN); microsatellite instability (MSI); the CpG island methylator phenotype (CIMP); 18q loss of heterozygosity; KRAS, BRAF, and PIK3CA mutations; and expression of beta-catenin, p53, p21, p27, cyclin D1, fatty acid synthase, and cyclooxygenase-2.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 390, "end": 399}], "disease": [{"text": "microsatellite instability", "start": 203, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the RPS4X/YB-1 complex is a significant potential target to counteract cisplatin resistance in breast cancer.", "output": {"entities": {"gene": [{"text": "RPS4X", "start": 31, "end": 36}], "disease": [{"text": "breast cancer", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPS4X", "start": 31, "end": 36}, "tail": {"text": "breast cancer", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "VEGI-armed oncolytic adenovirus inhibits tumor neovascularization and directly induces mitochondria-mediated cancer cell apoptosis.", "output": {"entities": {"gene": [{"text": "VEGI", "start": 0, "end": 4}], "disease": [{"text": "adenovirus", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "In vulnerable CA1 pyramidal neurons however, protein inhibitor of neuronal nitric oxide synthase expression remained at basal level after global ischemia and was associated with an increase in nicotinamide adenine dinucleotide phosphate-diaphorase activity and subsequent DNA fragmentation indicating ischemia-mediated neuronal cell death.", "output": {"entities": {"gene": [{"text": "CA1", "start": 14, "end": 17}], "disease": [{"text": "ischemia", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We performed routine karyotyping, IGF2 gene sequencing and investigated DNA methylation of the IGF2 differentially methylated region (DMR) 0 and H19 DMR using pyrosequencing, in four women selected for very low birth weight (<-3 SDS for gestational age), precocious pubarche, short adult stature (<-2 SDS), and insulin resistance (defined as HOMA-IS < 80%); and compared their methylation results to those of 95 control subjects.", "output": {"entities": {"gene": [{"text": "DMR", "start": 134, "end": 137}], "disease": [{"text": "precocious pubarche", "start": 255, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that driving combined MYC overexpression and Pten loss using recently characterized Hoxb13 transcriptional control elements that are active in prostate luminal epithelial cells would induce the development of genomic instability and aggressive disease with metastatic potential.", "output": {"entities": {"gene": [{"text": "Hoxb13", "start": 100, "end": 106}], "disease": [{"text": "genomic instability", "start": 225, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "A selective estrogen receptor-beta agonist causes lesion regression in an experimentally induced model of endometriosis.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 12, "end": 29}], "disease": [{"text": "regression", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 78, "end": 82}], "disease": [{"text": "autism", "start": 108, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGR2", "start": 78, "end": 82}, "tail": {"text": "autism", "start": 108, "end": 114}}]}}, "schema": []}
{"input": "We examined the brains from 15 AIDS autopsies (8 with HIV encephalitis and 7 without) and 4 non-infected control autopsies for the presence of DNA strand breaks, for associated changes in the expression of the DNA repair enzymes KU80 and Poly (ADP-ribose) polymerase (PARP), and for accumulation of amyloid precursor protein (APP).", "output": {"entities": {"gene": [{"text": "PARP", "start": 268, "end": 272}], "disease": [{"text": "encephalitis", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Therefore, our data suggested that the ApoE epsilon2/epsilon4 genotype might be a susceptibility variant of moderate effect for sporadic idiopathic PD in our samples, whereas the ACT gene signal peptide polymorphism might not.", "output": {"entities": {"gene": [{"text": "ACT", "start": 179, "end": 182}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We studied 98 kidney transplant patients (KTP) with stable renal allograft undergoing sirolimus treatment: 39 with HCHL and HTRG within 90 days postsirolimus treatment (PST) and 59 without hyperlipidemia PST.", "output": {"entities": {"gene": [{"text": "PST", "start": 169, "end": 172}], "disease": [{"text": "hyperlipidemia", "start": 189, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "PTX3 interacts with a set of self, nonself and modified self ligands and exerts essential roles in innate immunity, inflammation control and matrix deposition.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Our study provides the first demonstration of cytomorphologic differentiation between metastatic KRAS-AD and metastatic EGFR-AD in lymph node aspiration specimens.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 120, "end": 124}], "disease": [{"text": "aspiration", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The regulation of cyclin D3 and cdk4 by L-Arg starvation occurs at transcriptional and posttranscriptional levels.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 18, "end": 27}], "disease": [{"text": "starvation", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis imperfecta (DGI), which includes three types (DGI-I, DGI-II and DGI-III), and dentin dysplasia (DD), which includes two types (DD-I and DD-II).", "output": {"entities": {"gene": [{"text": "DGI-I", "start": 167, "end": 172}], "disease": [{"text": "DGI-III", "start": 185, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DGI-I", "start": 167, "end": 172}, "tail": {"text": "DGI-III", "start": 185, "end": 192}}]}}, "schema": []}
{"input": "Interestingly, the upregulation of AKT1, AKT2 and AKT3 proteins were all significantly associated with tumor aggressiveness and poor prognosis in patients with HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 160, "end": 163}], "disease": [{"text": "aggressiveness", "start": 109, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.", "output": {"entities": {"gene": [{"text": "EDARADD", "start": 99, "end": 106}], "disease": [{"text": "HED", "start": 41, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDARADD", "start": 99, "end": 106}, "tail": {"text": "HED", "start": 41, "end": 44}}]}}, "schema": []}
{"input": "] and pathogens, illustrating the importance of HLA-E for anti-viral and anti-tumor immunity.", "output": {"entities": {"gene": [{"text": "HLA-E", "start": 48, "end": 53}], "disease": [{"text": "tumor immunity", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene.", "output": {"entities": {"gene": [{"text": "calcium-sensing receptor", "start": 75, "end": 99}], "disease": [{"text": "autosomal dominant hypocalcemia", "start": 12, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "calcium-sensing receptor", "start": 75, "end": 99}, "tail": {"text": "autosomal dominant hypocalcemia", "start": 12, "end": 43}}]}}, "schema": []}
{"input": "The present results suggest that the TGM2 gene may be involved in the development of schizophrenia.", "output": {"entities": {"gene": [{"text": "TGM2", "start": 37, "end": 41}], "disease": [{"text": "schizophrenia", "start": 85, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGM2", "start": 37, "end": 41}, "tail": {"text": "schizophrenia", "start": 85, "end": 98}}]}}, "schema": []}
{"input": "In the general population, the NPSR1 Asn (107) Ile polymorphism is associated with AUD and alcohol consumption, dependent on sex, environment and age.", "output": {"entities": {"gene": [{"text": "NPSR1", "start": 31, "end": 36}], "disease": [{"text": "alcohol consumption", "start": 91, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The t (11; 22) (q24; q12) chromosomal translocation is specifically linked to ES and primitive neuroectodermal tumors and results, in the majority of cases, in the fusion of the amino terminus of the EWS gene to the carboxyl-terminal DNA-binding domain of the FLI1 gene.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 200, "end": 208}], "disease": [{"text": "chromosomal translocation", "start": 26, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Claudin 3 antibodies also homogeneously stained human renal cell carcinoma tissue and micrometastatic tumor cells as identified by cytokeratin staining in bone marrow biopsies of breast cancer patients.", "output": {"entities": {"gene": [{"text": "Claudin 3", "start": 0, "end": 9}], "disease": [{"text": "renal cell carcinoma", "start": 54, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "However, we report here on three brothers with varying degrees of renal dysfunction from mild to end-stage renal disease associated with renal barttin and ClC-K expression.", "output": {"entities": {"gene": [{"text": "barttin", "start": 143, "end": 150}], "disease": [{"text": "mild", "start": 89, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Matrigel invasion of malignant meningioma cells was significantly altered by modulating cathepsin B activity and by stefin B silencing.", "output": {"entities": {"gene": [{"text": "stefin B", "start": 116, "end": 124}], "disease": [{"text": "malignant meningioma", "start": 21, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "stefin B", "start": 116, "end": 124}, "tail": {"text": "malignant meningioma", "start": 21, "end": 41}}]}}, "schema": []}
{"input": "A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "IL-3", "start": 186, "end": 190}], "disease": [{"text": "MM", "start": 160, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-3", "start": 186, "end": 190}, "tail": {"text": "MM", "start": 160, "end": 162}}]}}, "schema": []}
{"input": "Within gender and generation strata, we noted no consistent pattern of positive or negative correlation of plasma ANP levels with systolic blood pressure, diastolic blood pressure, or heart rate.", "output": {"entities": {"gene": [{"text": "ANP", "start": 114, "end": 117}], "disease": [{"text": "heart rate", "start": 184, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-6 (IL-6) is high in RA and, together with smoking and obesity, an important contributor to the development of cardiovascular disease (CVD).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 15, "end": 19}], "disease": [{"text": "smoking", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population.", "output": {"entities": {"gene": [{"text": "HOXA1", "start": 129, "end": 134}], "disease": [{"text": "Bosley-Salih-Alorainy syndrome", "start": 24, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXA1", "start": 129, "end": 134}, "tail": {"text": "Bosley-Salih-Alorainy syndrome", "start": 24, "end": 54}}]}}, "schema": []}
{"input": "Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role (s) leading to PHARC disease had not previously been characterized.", "output": {"entities": {"gene": [{"text": "ABHD12", "start": 9, "end": 15}], "disease": [{"text": "PHARC", "start": 150, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABHD12", "start": 9, "end": 15}, "tail": {"text": "PHARC", "start": 150, "end": 155}}]}}, "schema": []}
{"input": "Lung inflammation was markedly increased in SP-A-/-compared with SP-A +/+ mice and was associated with increased hemorrhage and epithelial cell injury.", "output": {"entities": {"gene": [{"text": "SP-A", "start": 44, "end": 48}], "disease": [{"text": "hemorrhage", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the incidence of allelic imbalance at the BRCA1, BRCA2 and TP53 loci, in 82 sporadic breast carcinomas using a bank of highly polymorphic microsatellite markers located at the BRCA1, BRCA2 and TP53 regions.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 87, "end": 92}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Here, using intravital microscopy to evaluate mice lacking specific isoforms of the serine/threonine kinase AKT and bone marrow chimeras, we found that hematopoietic cell-associated AKT2 is important for neutrophil adhesion and crawling and neutrophil-platelet interactions on activated endothelial cells during TNF-α-induced venular inflammation.", "output": {"entities": {"gene": [{"text": "AKT", "start": 108, "end": 111}], "disease": [{"text": "adhesion", "start": 215, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "The genotypic and allelic frequencies of the GRL Bc1I polymorphism were otherwise similar in obese and normal weight subjects.", "output": {"entities": {"gene": [{"text": "GRL", "start": 45, "end": 48}], "disease": [{"text": "obese", "start": 93, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We evaluated chromosome aberrations (CAs) in lymphocytes of 200 workers exposed to organic solvents and 200 referents and the influence of polymorphisms in xenobiotic-metabolism (CYP2E1, GSTM1 and GSTT1) and in DNA repair genes (XRCC1 (194) Arg/Trp, XRCC1 (280) Arg/His, XRCC1 (399) Arg/Gln and XRCC3 (241) Thr/Met).", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 295, "end": 300}], "disease": [{"text": "chromosome aberrations", "start": 13, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency.", "output": {"entities": {"gene": [{"text": "GALK1", "start": 56, "end": 61}], "disease": [{"text": "galactokinase deficiency", "start": 110, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALK1", "start": 56, "end": 61}, "tail": {"text": "galactokinase deficiency", "start": 110, "end": 134}}]}}, "schema": []}
{"input": "The GSTP1 * C allelic variant should be considered a candidate for LOAD, particularly in persons having the ApoE epsilon4 allelic variant, because the GSTP1 and ApoE gene products are implicated in oxidative stress and apoptosis processes leading to beta-amyloid-mediated neurodegeneration.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 4, "end": 9}], "disease": [{"text": "neurodegeneration", "start": 272, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Although it is theoretically possible for p53 dysfunction to arise through mechanisms that do not involve TP53 mutation, such a phenomenon has not previously been demonstrated in a sporadic tumor.", "output": {"entities": {"gene": [{"text": "p53", "start": 42, "end": 45}], "disease": [{"text": "sporadic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "In ulcerative colitis and Crohn' s colitis tissues, MUC2 and MUC3 mRNA expression displayed a normal pattern regardless of whether the mucosa manifested active or quiescent inflammation.", "output": {"entities": {"gene": [{"text": "MUC3", "start": 61, "end": 65}], "disease": [{"text": "inflammation", "start": 173, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We prospectively studied 1750 women, age >/= 65 years, who underwent measurements of hip and calcaneal bone mineral density (BMD), were typed for APOE and followed for approximately 7. 0 years for the occurrence of fractures and falls.", "output": {"entities": {"gene": [{"text": "APOE", "start": 146, "end": 150}], "disease": [{"text": "bone mineral density", "start": 103, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.", "output": {"entities": {"gene": [{"text": "PIEZO2", "start": 67, "end": 73}], "disease": [{"text": "MWS", "start": 146, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIEZO2", "start": 67, "end": 73}, "tail": {"text": "MWS", "start": 146, "end": 149}}]}}, "schema": []}
{"input": "The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater.", "output": {"entities": {"gene": [{"text": "KMT2E", "start": 54, "end": 59}], "disease": [{"text": "developmental delay", "start": 143, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KMT2E", "start": 54, "end": 59}, "tail": {"text": "developmental delay", "start": 143, "end": 162}}]}}, "schema": []}
{"input": "FSTL1 has previously been implicated in diverse disease processes as a regulator of inflammatory cytokine expression, and we therefore evaluated the response of the genetrap strain to cisplatin-mediated acute kidney injury, a disease model with highly cytokine-dependent pathology.", "output": {"entities": {"gene": [{"text": "FSTL1", "start": 0, "end": 5}], "disease": [{"text": "acute kidney injury", "start": 203, "end": 222}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FSTL1", "start": 0, "end": 5}, "tail": {"text": "acute kidney injury", "start": 203, "end": 222}}]}}, "schema": []}
{"input": "To study on the polymorphism of UCP2 gene in Chengdu simple obesity and normal-weight people and to initially investigate the relationship between UCP2 Ala55Val variation and gut bacteria.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 32, "end": 36}], "disease": [{"text": "weight", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Investigation of genetically engineered animal models confirms the role of PRKAR1A as a tumour suppressor and has begun to elaborate mechanisms underlying tumorigenesis in this disorder.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 75, "end": 82}], "disease": [{"text": "tumorigenesis", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "This study investigated whether the CCR5Δ32 (rs333) and CCR5 59029 A/G (promoter region--rs1799987) polymorphisms of the CCR5 gene are associated with different clinical forms of chronic Chagas disease and with the severity of left ventricular systolic dysfunction in patients with chronic Chagas heart disease (CCHD).", "output": {"entities": {"gene": [{"text": "CCR5 gene", "start": 121, "end": 130}], "disease": [{"text": "left ventricular systolic dysfunction", "start": 227, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "There was no association between bone mass parameters and the APOE allele groups.", "output": {"entities": {"gene": [{"text": "APOE", "start": 62, "end": 66}], "disease": [{"text": "bone mass", "start": 33, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "As TNFalpha is a major contributor in intestinal inflammation, the aim of this study was to assess its effect on FOXO3 and FOXO3' s contribution to intestinal inflammation in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "FOXO3' s", "start": 123, "end": 131}], "disease": [{"text": "inflammation", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Peripheral blood samples from patients with invasive cervical cancer (ICC, n = 144) and non-cancer controls (NCC, n = 179) were used to detect three biallelic IL-10 promoter polymorphisms at-1082,-819, and-592 sites by polymerase chain reaction-restriction fragment length polymorphism assay using MnlI, MaeIII and RsaI, respectively.", "output": {"entities": {"gene": [{"text": "NCC", "start": 109, "end": 112}], "disease": [{"text": "invasive cervical cancer", "start": 44, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "This novel autosomal dominant macrothrombocytopenia associated with platelet dysfunction raises interesting questions about the role of integrin beta (3), and its betaTD domain, in platelet formation and function.", "output": {"entities": {"gene": [{"text": "integrin beta (3", "start": 136, "end": 152}], "disease": [{"text": "autosomal dominant macrothrombocytopenia", "start": 11, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "integrin beta (3", "start": 136, "end": 152}, "tail": {"text": "autosomal dominant macrothrombocytopenia", "start": 11, "end": 51}}]}}, "schema": []}
{"input": "Rarely, SMN1-deleted individuals are fully asymptomatic despite carrying identical SMN2 copies as their SMA III-affected siblings suggesting protection by genetic modifiers other than SMN2.", "output": {"entities": {"gene": [{"text": "SMN2", "start": 83, "end": 87}], "disease": [{"text": "asymptomatic", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Autistic phenotype from MEF2C knockout cells.", "output": {"entities": {"gene": [{"text": "MEF2C", "start": 24, "end": 29}], "disease": [{"text": "Autistic", "start": 0, "end": 8}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MEF2C", "start": 24, "end": 29}, "tail": {"text": "Autistic", "start": 0, "end": 8}}]}}, "schema": []}
{"input": "The central nervous system malformations seen in patients with ZIC2 mutations ranged from alobar HPE (most common) to middle interhemispheric fusion defect (one case).", "output": {"entities": {"gene": [{"text": "ZIC2", "start": 63, "end": 67}], "disease": [{"text": "nervous system malformations", "start": 12, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We conducted a population-based study to investigate the relationship between candidate genes for obesity (UCP1, UCP2, ADRA2B, ADRB3, LEPR, VDR and ESR1) and adiposity measures (body mass index, body fat percentage, weight, waist circumference and waist-hip ratio) in terms of individual gene and gene x gene interaction in models unadjusted and adjusted for covariates (age, years since menopause, educational level and total energy intake).", "output": {"entities": {"gene": [{"text": "UCP2", "start": 113, "end": 117}], "disease": [{"text": "weight", "start": 216, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring.", "output": {"entities": {"gene": [{"text": "DBP", "start": 43, "end": 46}], "disease": [{"text": "malformations", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 79, "end": 83}], "disease": [{"text": "Maffucci syndrome", "start": 19, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH1", "start": 79, "end": 83}, "tail": {"text": "Maffucci syndrome", "start": 19, "end": 36}}]}}, "schema": []}
{"input": "To determine whether cardiac troponin T gene (TNNT2, AY044273) is the virulence gene of idiopathic dilated cardiomyopathy (IDCM) in a Chengdu population.", "output": {"entities": {"gene": [{"text": "T gene", "start": 38, "end": 44}], "disease": [{"text": "idiopathic dilated cardiomyopathy", "start": 88, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "TP53 is the most commonly altered oncogene in human tumours and is involved in the development of both sporadic and some hereditary breast tumours.", "output": {"entities": {"gene": [{"text": "TP53", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We also revealed that the rate of NKX2. 1, FOXE1, NKX2. 5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHR mutations.", "output": {"entities": {"gene": [{"text": "FOXE1", "start": 43, "end": 48}], "disease": [{"text": "athyreosis", "start": 111, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXE1", "start": 43, "end": 48}, "tail": {"text": "athyreosis", "start": 111, "end": 121}}]}}, "schema": []}
{"input": "The aim was to study the mRNA expression of the IL-12R beta (2) chain, after stimulation via the CD2 pathway in peripheral blood mononuclear cells (PBMC), of atopic and non-atopic children, and to investigate correlations to the production of Th1 and Th2 cytokines.", "output": {"entities": {"gene": [{"text": "Th1", "start": 243, "end": 246}], "disease": [{"text": "atopic", "start": 158, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II).", "output": {"entities": {"gene": [{"text": "TGFBR1", "start": 23, "end": 29}], "disease": [{"text": "Loeys-Dietz syndrome", "start": 69, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBR1", "start": 23, "end": 29}, "tail": {"text": "Loeys-Dietz syndrome", "start": 69, "end": 89}}]}}, "schema": []}
{"input": "Subclinical atherosclerosis, measured by coronary artery calcification (CAC), is associated with CHD events and represents part of the biological continuum to overt CHD.", "output": {"entities": {"gene": [{"text": "CAC", "start": 72, "end": 75}], "disease": [{"text": "coronary artery calcification", "start": 41, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "lncRNAs SPRY4-IT1 has recently been identified to be involved in tumorigenesis of several cancers such as non-small cell lung cancer and esophageal squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 8, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The variables age ≥ 48 years, smoking and drinking can be predictors for head and neck cancer development; moreover, A313G GSTP1 polymorphism, GSTM1 and GSTT1 null genotypes can modulate the risk for this disease.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 123, "end": 128}], "disease": [{"text": "drinking", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Proliferating cholangiocytes that form small bile ducts may contribute to cholangiopathies in hepatolithiasis through an EMT-like phenomenon or through interactions with stromal myofibroblasts.", "output": {"entities": {"gene": [{"text": "EMT", "start": 121, "end": 124}], "disease": [{"text": "hepatolithiasis", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the secretion defects seen in GS2 and FHL3 have a common origin, and we propose that the rab27a/Munc13-4 complex is an essential regulator of secretory granule fusion with the plasma membrane in hematopoietic cells.", "output": {"entities": {"gene": [{"text": "rab27a", "start": 105, "end": 111}], "disease": [{"text": "GS2", "start": 46, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "rab27a", "start": 105, "end": 111}, "tail": {"text": "GS2", "start": 46, "end": 49}}]}}, "schema": []}
{"input": "The latter gene, which is recurrently translocated in T-cell lymphomas, is significantly higher expressed in the biopsy with the translocation compared to cases without this genetic aberration, indicating a pathogenetic role of PVRL2 also in DLBCL.", "output": {"entities": {"gene": [{"text": "PVRL2", "start": 228, "end": 233}], "disease": [{"text": "DLBCL", "start": 242, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PVRL2", "start": 228, "end": 233}, "tail": {"text": "DLBCL", "start": 242, "end": 247}}]}}, "schema": []}
{"input": "In colon epithelial cells (CCD 841, HT-29, Caco-2), direct application of 5-HT induced production of reactive oxygen species (ROS) and monocyte-epithelial adhesion, an initial event of inflammation, which were blocked not only by 5-HT receptor antagonists (tropisetron, RS39604, and SB269970), antioxidants (ascorbic acid, apocynin), and various inhibitors of NADPH oxidase (DPI), CREB (KG-501), and NF-κB (PDTC), but also by transfection with Nox2 siRNA.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 400, "end": 405}], "disease": [{"text": "adhesion", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The IL1β: IL1ra ratio in tracheal aspirates from preterm infants with respiratory failure is predictive of the development of BPD.", "output": {"entities": {"gene": [{"text": "IL1ra", "start": 10, "end": 15}], "disease": [{"text": "respiratory failure", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The G/G genotype of PNPLA3 rs738409 SNP was more frequently distributed, and associated with BMI and fibrosis among NBNC-HCC patients but not among HBV or HCV patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 121, "end": 124}], "disease": [{"text": "fibrosis", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Oral intakes and intranasal administration of chitin attenuated allergen-induced airway inflammation in sensitized mice, which may be due to its Th1 adjuvant properties.", "output": {"entities": {"gene": [{"text": "Th1", "start": 145, "end": 148}], "disease": [{"text": "inflammation", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to evaluate whether allelic variation of SCN5A could determine risk of sudden cardiac arrest among patients with CAD.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 71, "end": 76}], "disease": [{"text": "sudden cardiac arrest", "start": 101, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Significant increases in Y2 receptor binding (by 43-48%) were observed in the dentate hilus, sectors CA1 to CA3, and subiculum of specimens with, but not in those without, hippocampal sclerosis.", "output": {"entities": {"gene": [{"text": "CA1", "start": 101, "end": 104}], "disease": [{"text": "hippocampal sclerosis", "start": 172, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "FGFR2 mutations in Pfeiffer syndrome.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 0, "end": 5}], "disease": [{"text": "Pfeiffer syndrome", "start": 19, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 0, "end": 5}, "tail": {"text": "Pfeiffer syndrome", "start": 19, "end": 36}}]}}, "schema": []}
{"input": "Immunofluorescence of HCT116 tumor xenografts demonstrated an inverse relationship between ischemia (as revealed by carbonic anhydrase IX staining) and DNMT1 protein.", "output": {"entities": {"gene": [{"text": "carbonic anhydrase IX", "start": 116, "end": 137}], "disease": [{"text": "ischemia", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietin is beneficial in mitomycin-induced hemolytic-uremic syndrome.", "output": {"entities": {"gene": [{"text": "Erythropoietin", "start": 0, "end": 14}], "disease": [{"text": "hemolytic-uremic syndrome", "start": 50, "end": 75}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Erythropoietin", "start": 0, "end": 14}, "tail": {"text": "hemolytic-uremic syndrome", "start": 50, "end": 75}}]}}, "schema": []}
{"input": "In vitro, OAdV220 provided increased transgene expression over a comparable human Ad5 vector in infected AI, murine RM1 prostate cancer cells.", "output": {"entities": {"gene": [{"text": "RM1", "start": 116, "end": 119}], "disease": [{"text": "prostate cancer", "start": 120, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Myotubular myopathy (MIM #310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration.", "output": {"entities": {"gene": [{"text": "MIM", "start": 21, "end": 24}], "disease": [{"text": "neonatal hypotonia", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the expression level of GAPDH in blood samples from mutant tau transgenic mice and patients with FAD was decreased as compared to sporadic cases and healthy controls.", "output": {"entities": {"gene": [{"text": "FAD", "start": 110, "end": 113}], "disease": [{"text": "sporadic", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we employed different human tumor cell models with endogenous and exogenous expression of HMGA2 and show that upon DNA damage, the presence of HMGA2 caused an increased and sustained phosphorylation of the ataxia telangiectasia and Rad3-related kinase (ATR) and its downstream target checkpoint kinase 1 (CHK1).", "output": {"entities": {"gene": [{"text": "HMGA2", "start": 112, "end": 117}], "disease": [{"text": "ataxia telangiectasia", "start": 228, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "Assays performed after MIEN1 knockdown in OSC-2 cells showed decreased migration, invasion and filopodia formation; while MIEN1 overexpression in DOK cells increased these characteristics and also up-regulated some Akt/NF-κB effectors, thereby suggesting an important role for MIEN1 in oral cancer progression.", "output": {"entities": {"gene": [{"text": "OSC", "start": 42, "end": 45}], "disease": [{"text": "oral cancer", "start": 286, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "TSC2 germline mutations were detected in 2 (33. 3%) of 6 patients with TSC-LAM and TSC1 germline mutation in 1 (4. 5%) of 22 sporadic LAM patients.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 0, "end": 4}], "disease": [{"text": "LAM", "start": 75, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSC2", "start": 0, "end": 4}, "tail": {"text": "LAM", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "TRL-01 had the same immunophenotype as the original leukemia cells: positive for CD13, CD33, CD11a, CD18, CD29, CD49d, CD49e, CD54, CD62L, and CD117, and negative for CD3, CD4, CD8, CD19, CD34, CD41a, CD41b, CD135, and myeloperoxidase.", "output": {"entities": {"gene": [{"text": "CD49e", "start": 119, "end": 124}], "disease": [{"text": "leukemia", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our study demonstrates the contribution of IL-17 to myocardial fibrosis in isoproterenol-induced HF.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 43, "end": 48}], "disease": [{"text": "fibrosis", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This study revealed that low PDCD4 expression correlates with biological aggressiveness and poor prognosis in gastric cancer.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 29, "end": 34}], "disease": [{"text": "aggressiveness", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "This report further highlights the capacity of high-molecular cytogenetic methods, such as SNP array and FISH, in the identification of submicroscopic rearrangement, structural configuration and parental origin of aberrant while in the evaluation of children with idiopathic developmental delay and intellectual disability.", "output": {"entities": {"gene": [{"text": "FISH", "start": 105, "end": 109}], "disease": [{"text": "developmental delay", "start": 275, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "We report a girl with a de novo deletion at Xp21. 2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy.", "output": {"entities": {"gene": [{"text": "GK gene", "start": 100, "end": 107}], "disease": [{"text": "mild", "start": 245, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "HCV infected human hepatoma cells were analyzed to determine (i) ROS, (ii) 8-oxoG and (iii) DNA glycosylases NEIL1, NEIL2, OGG1.", "output": {"entities": {"gene": [{"text": "NEIL1", "start": 109, "end": 114}], "disease": [{"text": "hepatoma", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "CDX2 and GCC maintain homeostatic regeneration in the intestine by restricting cell proliferation, promoting cell maturation and adhesion, regulating cell migration and defending the intestinal barrier and genomic integrity.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome.", "output": {"entities": {"gene": [{"text": "TBL1XR1", "start": 33, "end": 40}], "disease": [{"text": "Pierpont syndrome", "start": 66, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBL1XR1", "start": 33, "end": 40}, "tail": {"text": "Pierpont syndrome", "start": 66, "end": 83}}]}}, "schema": []}
{"input": "Both sporadic narcoleptic dogs and human narcolepsy-cataplexy subjects showed a significant decrease in hcrtR1 expression, while declines in hcrtR2 expression were not significant in these cases.", "output": {"entities": {"gene": [{"text": "hcrtR2", "start": 141, "end": 147}], "disease": [{"text": "sporadic", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "GDNF is a novel ethanol-responsive gene in the VTA: implications for the development and persistence of excessive drinking.", "output": {"entities": {"gene": [{"text": "GDNF", "start": 0, "end": 4}], "disease": [{"text": "excessive drinking", "start": 104, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDNF", "start": 0, "end": 4}, "tail": {"text": "excessive drinking", "start": 104, "end": 122}}]}}, "schema": []}
{"input": "We predict that the availability of SACS mutation analysis as well as an increasing awareness of the characteristic ARSACS phenotype will lead to the diagnosis of many additional patients, possibly even at a younger age.", "output": {"entities": {"gene": [{"text": "SACS", "start": 36, "end": 40}], "disease": [{"text": "ARSACS", "start": 116, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SACS", "start": 36, "end": 40}, "tail": {"text": "ARSACS", "start": 116, "end": 122}}]}}, "schema": []}
{"input": "Both single-gene and gene-set enrichment analyses in genome-wide association data from the largest schizophrenia sample to date of 13, 689 cases and 18, 226 controls show significant association of HIST1H1E and MAPK3, and enrichment of our PSD proteome.", "output": {"entities": {"gene": [{"text": "HIST1H1E", "start": 198, "end": 206}], "disease": [{"text": "schizophrenia", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIST1H1E", "start": 198, "end": 206}, "tail": {"text": "schizophrenia", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "Nse-Cre Pten conditional knockout mice, in which Pten is ablated in granule cells of the dentate gyrus and pyramidal neurons of the hippocampal CA3, but not CA1, recapitulate many of the symptoms of humans with inactivating PTEN mutations, including progressive hypertrophy of the dentate gyrus and deficits in hippocampus-based social and cognitive behaviors.", "output": {"entities": {"gene": [{"text": "CA1", "start": 157, "end": 160}], "disease": [{"text": "hypertrophy", "start": 262, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Arginine: glycineamidinotransferase (AGAT/GATM) deficiency has been described in 9 patients across 4 families.", "output": {"entities": {"gene": [{"text": "AGAT", "start": 37, "end": 41}], "disease": [{"text": "GATM) deficiency", "start": 42, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGAT", "start": 37, "end": 41}, "tail": {"text": "GATM) deficiency", "start": 42, "end": 58}}]}}, "schema": []}
{"input": "Sequencing of EFNA5 was performed in 140 sporadic ARC patients and 142 random unrelated healthy subjects.", "output": {"entities": {"gene": [{"text": "EFNA5", "start": 14, "end": 19}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "52 symptomatic (SPB) and 64 asymptomatic (APB) pigeon breeders were investigated for the HLA-A,-B,-C,-DR; C2, C3, C4 and Bf systems, and C3, C4 and factor B serum concentrations.", "output": {"entities": {"gene": [{"text": "factor B", "start": 148, "end": 156}], "disease": [{"text": "asymptomatic", "start": 28, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "A role in cell proliferation has been proposed for BCHE, and since growth depends on the number of mitoses, it is not unexpected that variants of this enzyme may influence body stature in different ways.", "output": {"entities": {"gene": [{"text": "BCHE", "start": 51, "end": 55}], "disease": [{"text": "stature", "start": 177, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The analysis of cathepsin B-derived oligosaccharides revealed a hypermannosylation of glycoproteins in mice with alpha-mannosidosis as indicated by the predominance of extended Man3GlcNAc2 oligosaccharides.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 16, "end": 27}], "disease": [{"text": "alpha-mannosidosis", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.", "output": {"entities": {"gene": [{"text": "BCR", "start": 15, "end": 18}], "disease": [{"text": "B-ALL", "start": 64, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCR", "start": 15, "end": 18}, "tail": {"text": "B-ALL", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndrome families where at least two affected individuals were characterised and available for analysis, another 30 families with only one affected member available for analysis, and in 10 sporadic cases.", "output": {"entities": {"gene": [{"text": "fibrillin-1", "start": 46, "end": 57}], "disease": [{"text": "Marfan syndrome", "start": 69, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibrillin-1", "start": 46, "end": 57}, "tail": {"text": "Marfan syndrome", "start": 69, "end": 84}}]}}, "schema": []}
{"input": "The placentas in Cul4b heterozygotes were disorganized and were impaired in vascularization, which may contribute to the developmental delay.", "output": {"entities": {"gene": [{"text": "Cul4b", "start": 17, "end": 22}], "disease": [{"text": "vascularization", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The authors examined ENG promoter hypermethylation using real-time, quantitative, methylation-specific polymerase chain reaction in 260 human esophageal tissues.", "output": {"entities": {"gene": [{"text": "ENG", "start": 21, "end": 24}], "disease": [{"text": "esophageal", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha induced maximal translocation of NF-kappaB into the nucleus of non-CF as well as CF airway cells within 20 minutes.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 0, "end": 9}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "These data suggest genetic, biochemical, pathophysiological, and clinical correlations among the aldose reductase gene, extracellular matrix, classic diabetic glomerulopathy, and renal insufficiency.", "output": {"entities": {"gene": [{"text": "aldose reductase", "start": 97, "end": 113}], "disease": [{"text": "diabetic glomerulopathy", "start": 150, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the GDF5 gene can cause different types of skeletal dysplasia, including brachydactyly type C (BDC) and proximal symphalangism (SYM1).", "output": {"entities": {"gene": [{"text": "GDF5", "start": 17, "end": 21}], "disease": [{"text": "proximal symphalangism", "start": 117, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF5", "start": 17, "end": 21}, "tail": {"text": "proximal symphalangism", "start": 117, "end": 139}}]}}, "schema": []}
{"input": "Predisposing factors include achlorhydria, Helicobacter pylori infection, oxyntic atrophy and TFF2-expressing metaplasia.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 94, "end": 98}], "disease": [{"text": "metaplasia", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "N-myc downstream-regulated gene 2 (NDRG2) is one of the important stress-inducible genes and plays a critical role in negatively regulating PI3K/AKT signaling during hypoxia and inflammation.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 35, "end": 40}], "disease": [{"text": "hypoxia", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 196, "end": 199}], "disease": [{"text": "retinal degeneration", "start": 205, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We have immunostained a large group of ductal carcinoma in situ and invasive breast carcinomas using a monoclonal antibody (5ST-4A9) raised against the hemopexin-like domain of human ST3.", "output": {"entities": {"gene": [{"text": "hemopexin", "start": 152, "end": 161}], "disease": [{"text": "ductal carcinoma in situ", "start": 39, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the \" Osaka \" variant) associated with an A198V mutation in three infants with mild GALK deficiency.", "output": {"entities": {"gene": [{"text": "GALK", "start": 79, "end": 83}], "disease": [{"text": "GALK deficiency", "start": 196, "end": 211}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALK", "start": 79, "end": 83}, "tail": {"text": "GALK deficiency", "start": 196, "end": 211}}]}}, "schema": []}
{"input": "In HeLa cells, RNA interference-mediated downregulation of PINK1 results in abnormal mitochondrial morphology and altered membrane potential.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 59, "end": 64}], "disease": [{"text": "abnormal mitochondrial morphology", "start": 76, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features.", "output": {"entities": {"gene": [{"text": "VAMP2", "start": 55, "end": 60}], "disease": [{"text": "autistic features", "start": 232, "end": 249}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VAMP2", "start": 55, "end": 60}, "tail": {"text": "autistic features", "start": 232, "end": 249}}]}}, "schema": []}
{"input": "AD appears to have a heterogeneous etiology with a large percentage termed sporadic AD arising from unknown causes and a smaller fraction of early onset familial AD (FAD) caused by mutations in one of several genes, such as the beta-amyloid precursor protein (APP) and presenilins (PS1, PS2).", "output": {"entities": {"gene": [{"text": "FAD", "start": 166, "end": 169}], "disease": [{"text": "sporadic", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We propose that IRS-2 is needed to maintain the predominance of bone formation over bone resorption, whereas IRS-1 maintains bone turnover, as we previously reported; the integration of these two signalings causes a potent bone anabolic action by insulin and IGF-I.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 259, "end": 264}], "disease": [{"text": "bone resorption", "start": 84, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that the common germline BRCA1 and BRCA2 mutations are infrequently encountered in sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 52, "end": 57}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, TS patients may develop recurrent infections and bronchitis that suggests a role of CaV1. 2 channel in the immune system.", "output": {"entities": {"gene": [{"text": "CaV1. 2", "start": 98, "end": 105}], "disease": [{"text": "bronchitis", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite instability (MSI) due to defective DNA mismatch repair (MMR) is a form of genomic instability underlying the tumorigenesis of various human neoplasms.", "output": {"entities": {"gene": [{"text": "MMR", "start": 71, "end": 74}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We investigated the associations between Wnt5a and the early development of cigarette smoke related lung cancer using human bronchial epithelial (HBE) cells (NHBE, BEAS-2B, 1799, 1198 and 1170I) at different malignant stages established by exposure to cigarette smoke condensate (CSC).", "output": {"entities": {"gene": [{"text": "Wnt5a", "start": 41, "end": 46}], "disease": [{"text": "lung cancer", "start": 100, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Wnt5a", "start": 41, "end": 46}, "tail": {"text": "lung cancer", "start": 100, "end": 111}}]}}, "schema": []}
{"input": "In this study, we investigated the relative levels of the sterol transporters ABCA1, ABCG5, and ABCG8 in human gallbladders in CAGD, and the relationship between ABCA1 and inflammation.", "output": {"entities": {"gene": [{"text": "ABCG8", "start": 96, "end": 101}], "disease": [{"text": "inflammation", "start": 172, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "FMO3 genotype and allele frequency was not significantly associated with auditory hallucinations or delusions.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 0, "end": 4}], "disease": [{"text": "delusions", "start": 100, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We thus sought to evaluate whether the HCRTR2 G1246A polymorphism is associated with the risk for migraine.", "output": {"entities": {"gene": [{"text": "HCRTR2", "start": 39, "end": 45}], "disease": [{"text": "migraine", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Suggesting that polymorphism in the MTHFR gene was involved in chromosome abnormalities of leukemia.", "output": {"entities": {"gene": [{"text": "MTHFR gene", "start": 36, "end": 46}], "disease": [{"text": "chromosome abnormalities", "start": 63, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We examined the association of three resistin polymorphisms,-852A > G,-420C > G and + 157C > T, and related haplotypes with plasma resistin, cytokines, C-reactive protein (CRP), adipokines, plasma lipoproteins, metabolic syndrome and coronary artery calcification (CAC) in nondiabetic Caucasians (n = 851).", "output": {"entities": {"gene": [{"text": "CAC", "start": 265, "end": 268}], "disease": [{"text": "coronary artery calcification", "start": 234, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "To study the frequency of Factor V Leiden (FVL), prothrombin gene mutation G20210A and methylenetetrahydrofolate reductase C677T in patients with acute pulmonary embolism (PE); and to investigate whether these factors are more frequent in patients who have no obvious risk factors for venous thrombo-embolism compared to those with obvious risk factors.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 87, "end": 122}], "disease": [{"text": "acute pulmonary embolism", "start": 146, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "A 68-year-old man presented with hemiparesis, lymphocytosis, and cerebral lesions on MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 85, "end": 88}], "disease": [{"text": "lymphocytosis", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Isolation and amino acid sequence of a chemotactic protein, LECT/interleukin 8, from a human myeloid leukemia cell line, ML-1.", "output": {"entities": {"gene": [{"text": "ML-1", "start": 121, "end": 125}], "disease": [{"text": "myeloid leukemia", "start": 93, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The results suggested that cyclin D1 was involved in the earlier event and accumulated as the cancer evolved to a later stage in some esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 27, "end": 36}], "disease": [{"text": "esophageal", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Resistance to DSS-induced colitis was lost when wild-type (wt) BM was used to reconstitute iNOS-/-mice.", "output": {"entities": {"gene": [{"text": "iNOS", "start": 91, "end": 95}], "disease": [{"text": "colitis", "start": 26, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "iNOS", "start": 91, "end": 95}, "tail": {"text": "colitis", "start": 26, "end": 33}}]}}, "schema": []}
{"input": "Impaired virus killing is suggested by lower CD16 + (35/microl versus 107/microl; P = 0. 016), higher CD3 + DR + (178/microl versus 66/microl; P = 0. 006), and higher CD8 + DR + (142/microl versus 34/microl; P = 0. 017) cell counts in IC (-) patients compared to IC-patients without detectable viral load.", "output": {"entities": {"gene": [{"text": "CD16", "start": 45, "end": 49}], "disease": [{"text": "viral load", "start": 294, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "Activated T helper (Th)-1 pulmonary CD4 + cells and their mediators are essential for the inflammation and granulomatous process in sarcoidosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 36, "end": 39}], "disease": [{"text": "sarcoidosis", "start": 132, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "While patients with partially controlled viremia and poor CD4 T cell reconstitution manifested poor proliferative responses to anti-CD3 or HIV gag antigen stimulation, proliferative responses to Cgamma chain utilizing cytokines IL-2, IL-7, and IL-15 were robust.", "output": {"entities": {"gene": [{"text": "IL-15", "start": 244, "end": 249}], "disease": [{"text": "viremia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.", "output": {"entities": {"gene": [{"text": "DAX1", "start": 81, "end": 85}], "disease": [{"text": "X-linked adrenal hypoplasia congenita", "start": 28, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX1", "start": 81, "end": 85}, "tail": {"text": "X-linked adrenal hypoplasia congenita", "start": 28, "end": 65}}]}}, "schema": []}
{"input": "Oxr1 is essential for protection against oxidative stress-induced neurodegeneration.", "output": {"entities": {"gene": [{"text": "Oxr1", "start": 0, "end": 4}], "disease": [{"text": "neurodegeneration", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Since TGF-beta' s prometastatic role may be linked to its ability to induce tumor cell epithelial-to-mesenchymal transition (EMT), we explored TGF-beta' s EMT-promoting pathways by analysing the transcriptome changes occurring in BRI-JM01 mammary tumor epithelial cells undergoing a TGF-beta-induced EMT.", "output": {"entities": {"gene": [{"text": "EMT", "start": 125, "end": 128}], "disease": [{"text": "mammary tumor", "start": 239, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "In order to advance our knowledge towards establishing genotype-phenotype correlations in Farber' s disease, detailed analysis of the ASAH1 gene is needed.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 134, "end": 139}], "disease": [{"text": "Farber' s disease", "start": 90, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASAH1", "start": 134, "end": 139}, "tail": {"text": "Farber' s disease", "start": 90, "end": 107}}]}}, "schema": []}
{"input": "Set/TAF-Ibeta was co-precipitated with glucocorticoid response elements (GREs) of these promoters in the absence of dexamethasone, while addition of the hormone caused dissociation of Set/TAF-Ibeta from and attraction of the p160-type coactivator GRIP1 to the promoter GREs.", "output": {"entities": {"gene": [{"text": "TAF-Ibeta", "start": 4, "end": 13}], "disease": [{"text": "dissociation", "start": 168, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization.", "output": {"entities": {"gene": [{"text": "CNNM4", "start": 22, "end": 27}], "disease": [{"text": "Jalili syndrome", "start": 54, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CNNM4", "start": 22, "end": 27}, "tail": {"text": "Jalili syndrome", "start": 54, "end": 69}}]}}, "schema": []}
{"input": "This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 31, "end": 37}], "disease": [{"text": "hemochromatosis type 4", "start": 374, "end": 396}]}, "relations": {}}, "schema": []}
{"input": "A loss-of-function mutation in DAG1 can result in Walker-Warburg syndrome and is not embryonic lethal.", "output": {"entities": {"gene": [{"text": "DAG1", "start": 31, "end": 35}], "disease": [{"text": "Walker-Warburg syndrome", "start": 50, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAG1", "start": 31, "end": 35}, "tail": {"text": "Walker-Warburg syndrome", "start": 50, "end": 73}}]}}, "schema": []}
{"input": "Mice receiving SOD2-MSCs showed progressive reduction in body weight and improved glucose tolerance (GTT) at 4 weeks, post MSCs transplantation compared to the GFP-MSC group (control).", "output": {"entities": {"gene": [{"text": "SOD2", "start": 15, "end": 19}], "disease": [{"text": "body weight", "start": 57, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "REDD1 mutants that fail to bind 14-3-3 are defective in eliciting TSC2/14-3-3 dissociation and mTORC1 inhibition, while TSC2 mutants that do not bind 14-3-3 are inactive in hypoxia signaling to mTORC1.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 95, "end": 101}], "disease": [{"text": "hypoxia", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether this is a common finding in MFH, microsatellite instability and nuclear MSH2 protein staining was tested for in 5 and 6 sporadic MFHs, respectively.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 95, "end": 99}], "disease": [{"text": "sporadic", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We analyzed for LINE-1 hypomethylation and hypermethylation at 7 CIMP-specific CpG islands (CACNA1G, CRABP1, IGF2, MLH1, NEUROG1, RUNX3 and SOCS1); microsatellite instability (MSI); KRAS, BRAF and PIK3CA mutations; and expression of TP53 (p53), CTNNB1 (β-catenin), CDKN1A (p21), CDKN1B (p27), CCND1 (cyclin D1), FASN (fatty acid synthase) and PTGS2 (cyclooxygenase-2).", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 300, "end": 309}], "disease": [{"text": "microsatellite instability", "start": 148, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The data show that in CRF (a) the mRNA of hepatic lipase is downregulated, and hepatic lipase production, activity and release are impaired, (b) that this is due to the state of secondary hyperparathyroidism of CRF since both acute and chronic excess of PTH were associated with these abnormalities, (c) and that prevention of excess PTH by PTX of CRF rats or blocking the effect of PTH by treatment with verapamil corrected the derangement in hepatic lipase metabolism.", "output": {"entities": {"gene": [{"text": "hepatic lipase", "start": 42, "end": 56}], "disease": [{"text": "secondary hyperparathyroidism", "start": 178, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "To report mutations of PRRT2 in BFIS, infantile convulsions and choreoathetosis (ICCA), and in sporadic cases affected by benign infantile epilepsy (BIE).", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 23, "end": 28}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "There was a statistically significant difference in CD99 expression (p = 0. 0013) and EWS/FLI1 translocation (p = 0, 002) between cPNETs and ESFTs cases.", "output": {"entities": {"gene": [{"text": "EWS", "start": 86, "end": 89}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Vaccination of mice with protein transferred GPI-HER-2-VLPs induced a strong Th1 and Th2-type anti-HER-2 antibody response and protected mice against a HER-2-expressing tumor challenge.", "output": {"entities": {"gene": [{"text": "GPI", "start": 45, "end": 48}], "disease": [{"text": "tumor", "start": 169, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "PTPRO-mediated autophagy prevents hepatosteatosis and tumorigenesis.", "output": {"entities": {"gene": [{"text": "PTPRO", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The location of mutations within the p53 gene was found to be similar to that of somatic mutations in sporadic tumors.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 37, "end": 45}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The biologic characteristics of the two human giant-cell lung carcinoma strains with high (strain D) and low metastatic potential (strain C) were studied, including karyotype of chromosome, intracellular free calcium ([Ca2 +] i), morphologic changes of cell surface and the expression of nm23-H1, p53, ras, c-myc, c-erbB2, bcl-2 genes and PCNA.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 219, "end": 222}], "disease": [{"text": "lung carcinoma", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Three hypoxia-related microRNAs, hsa-miR-210, hsa-miR-21, and hsa-miR-10b, were measured in 46 samples from patients with HNSCC.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 37, "end": 43}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Development of effective new therapies for distinctive manifestations, e. g., a high rate of malignancy in SDHB-or predisposition to multifocal PGLs in SDHD patients, mandates improved stratification.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 144, "end": 148}], "disease": [{"text": "malignancy", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Indications of linkage between familial pure depressive disease and MNS and depression spectrum disease and ORM were found, as had been previously suggested.", "output": {"entities": {"gene": [{"text": "MNS", "start": 68, "end": 71}], "disease": [{"text": "depression", "start": 76, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MNS", "start": 68, "end": 71}, "tail": {"text": "depression", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "Phosphorylated Smad2 increased within the ischemia-reperfusion region.", "output": {"entities": {"gene": [{"text": "Smad2", "start": 15, "end": 20}], "disease": [{"text": "ischemia", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, in lung adenomas Cx32 and Cx43 expressions were not detected, although the expression of connexins 26 and 46 was present.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 40, "end": 44}], "disease": [{"text": "adenomas", "start": 22, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cx43", "start": 40, "end": 44}, "tail": {"text": "adenomas", "start": 22, "end": 30}}]}}, "schema": []}
{"input": "Reduced activity of ferrochelatase in erythropoietic protoporphyria (EPP) results in protoporphyrin (PP) accumulation in erythrocytes and liver.", "output": {"entities": {"gene": [{"text": "ferrochelatase", "start": 20, "end": 34}], "disease": [{"text": "erythropoietic protoporphyria", "start": 38, "end": 67}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ferrochelatase", "start": 20, "end": 34}, "tail": {"text": "erythropoietic protoporphyria", "start": 38, "end": 67}}]}}, "schema": []}
{"input": "Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre-and postnatal growth failure, microcephaly, severe mental retardation, seizures, and a distinctive facial appearance; a deletion of 4p16. 3 was seen in all eight patients studied with fluorescence in situ hybridisation (FISH).", "output": {"entities": {"gene": [{"text": "PRD", "start": 81, "end": 84}], "disease": [{"text": "severe mental retardation", "start": 154, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO-II) and achondrogenesis 1B (ACG-1B).", "output": {"entities": {"gene": [{"text": "ACG", "start": 336, "end": 339}], "disease": [{"text": "diastrophic dysplasia", "start": 250, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "This study assessed gene mutations (factor V Leiden, prothrombin G20210A, plasminogen activator inhibitor, methylenetetrahydrofolate reductase) and serologic thrombophilias (high levels of factors VIII and XI, homocysteine, anticardiolipin immunoglobulin G and immunoglobulin M antibodies, and lupus anticoagulant; low antigenic protein C, S, and free S; and antithrombin III deficiency).", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 107, "end": 142}], "disease": [{"text": "lupus anticoagulant", "start": 294, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "CD4 (+) FOXP3 (+) gingival T-cell clones were established from three patients with advanced periodontitis by using immunomagnetic beads.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "periodontitis", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the expression of RAGE in the moderate hypoxic-ischemic (HI) rat brain injury model in order to determine if this receptor is involved in the cellular perturbation mediated by ischemic stress.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 39, "end": 43}], "disease": [{"text": "hypoxic", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The absence of polymorphisms in ADRB3, UCP1, PPARγ, and ADIPOQ genes protects morbid obese patients toward insulin resistance.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 32, "end": 37}], "disease": [{"text": "insulin resistance", "start": 107, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our study demonstrated that PTOV1 overexpression is correlated with increased aggressiveness of HCC and could be a prognostic biomarker for patients with HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 96, "end": 99}], "disease": [{"text": "aggressiveness", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the PS2 cleavage site indicates that the principal endoproteolytic cleavage occurs at residues Met-298/Val-299 and that the N terminus is subsequently modified by secondary proteolytic cleavages.", "output": {"entities": {"gene": [{"text": "PS2", "start": 27, "end": 30}], "disease": [{"text": "secondary", "start": 186, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We also evaluated differences in risk by estrogen receptor (ER) and progesterone receptor (PR) status in tumors, and the potential modification of the smoking association by N-acetyl transferase 2 (NAT2) genotype.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 198, "end": 202}], "disease": [{"text": "smoking", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In addition, no significant association was detected between the reconstructed PTTG1 haplotypes and pituitary adenoma cases or the controls.", "output": {"entities": {"gene": [{"text": "PTTG1", "start": 79, "end": 84}], "disease": [{"text": "pituitary adenoma", "start": 100, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in all cases.", "output": {"entities": {"gene": [{"text": "FKBP10", "start": 102, "end": 108}], "disease": [{"text": "BS", "start": 50, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKBP10", "start": 102, "end": 108}, "tail": {"text": "BS", "start": 50, "end": 52}}]}}, "schema": []}
{"input": "Subcutaneous and intracranial GBM xenografts were generated using 3 established astrocytoma cell lines (U87, U373, and U343) that were transfected to stably over-express Ang1.", "output": {"entities": {"gene": [{"text": "U87", "start": 104, "end": 107}], "disease": [{"text": "astrocytoma", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, there was a higher level of nTregs in brain tumors that expressed the proliferative marker Ki67 compared with iTregs and conventional CD4 (+) T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 147, "end": 150}], "disease": [{"text": "brain tumors", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Using suppression subtractive hybridization and a microarray analysis to identify drug resistance-associated DNA repair-related genes, we found that the mRNA levels of ERCC1, MSH-3, MSH-6 and XPC were significantly increased in LADC patients.", "output": {"entities": {"gene": [{"text": "MSH-6", "start": 182, "end": 187}], "disease": [{"text": "LADC", "start": 228, "end": 232}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MSH-6", "start": 182, "end": 187}, "tail": {"text": "LADC", "start": 228, "end": 232}}]}}, "schema": []}
{"input": "We found that the induction of some Hsps but not others was profoundly altered in scrapie-infected cells and that the distribution of Hsp73 is unusual in these cells.", "output": {"entities": {"gene": [{"text": "Hsp73", "start": 134, "end": 139}], "disease": [{"text": "scrapie", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In asthmatic patients, elevated levels of interleukin-4 and up-regulated Bcl-2 expression were detected.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 73, "end": 78}], "disease": [{"text": "asthmatic", "start": 3, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 73, "end": 78}, "tail": {"text": "asthmatic", "start": 3, "end": 12}}]}}, "schema": []}
{"input": "We tested the hypothesis that sEHi could reduce the occurrence of ACS by regulating FAS.", "output": {"entities": {"gene": [{"text": "FAS", "start": 84, "end": 87}], "disease": [{"text": "ACS", "start": 66, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAS", "start": 84, "end": 87}, "tail": {"text": "ACS", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "Lysyl oxidase-like 4 is alternatively spliced in an anatomic site-specific manner in tumors involving the serosal cavities.", "output": {"entities": {"gene": [{"text": "Lysyl oxidase-like 4", "start": 0, "end": 20}], "disease": [{"text": "cavities", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We find that the uncoupling of ER stress and insulin resistance in KLF15 (-/-) liver is associated with the maintenance of a low energy state characterized by decreased mTORC1 activity, increased AMPK phosphorylation and PGC-1α expression and activation of autophagy, an intracellular degradation process that enhances hepatic insulin sensitivity.", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 221, "end": 227}], "disease": [{"text": "insulin sensitivity", "start": 327, "end": 346}]}, "relations": {}}, "schema": []}
{"input": "The disruptive nature of two mutations (i. e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD.", "output": {"entities": {"gene": [{"text": "ALD", "start": 137, "end": 140}], "disease": [{"text": "X-ALD", "start": 263, "end": 268}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALD", "start": 137, "end": 140}, "tail": {"text": "X-ALD", "start": 263, "end": 268}}]}}, "schema": []}
{"input": "To avoid selection bias, we confined analysis of total and free protein S levels and thrombotic risk to the patients' relatives.", "output": {"entities": {"gene": [{"text": "protein S", "start": 64, "end": 73}], "disease": [{"text": "thrombotic", "start": 85, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein S", "start": 64, "end": 73}, "tail": {"text": "thrombotic", "start": 85, "end": 95}}]}}, "schema": []}
{"input": "Moreover, upregulation of FOXA2 suppressed HCC metastasis to bone, brain and lung in two distinct mouse models.", "output": {"entities": {"gene": [{"text": "FOXA2", "start": 26, "end": 31}], "disease": [{"text": "metastasis to bone", "start": 47, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Pathway analysis revealed significant upregulation of genes involved in G-protein coupled receptor signalling and response to stimulus (in particular the immune response), while genes relating to the ubiquitin cycle and intracellular transport showed coordinated downregulation in bipolar disorder.", "output": {"entities": {"gene": [{"text": "G-protein coupled receptor", "start": 72, "end": 98}], "disease": [{"text": "bipolar disorder", "start": 281, "end": 297}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "G-protein coupled receptor", "start": 72, "end": 98}, "tail": {"text": "bipolar disorder", "start": 281, "end": 297}}]}}, "schema": []}
{"input": "Recently, PAR-1 has been described to regulate the gap junction protein Connexin 43 and the tumor suppressor gene Maspin to promote the metastatic melanoma phenotype.", "output": {"entities": {"gene": [{"text": "Connexin 43", "start": 72, "end": 83}], "disease": [{"text": "metastatic melanoma", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.", "output": {"entities": {"gene": [{"text": "aminolevulinate dehydratase", "start": 37, "end": 64}], "disease": [{"text": "acute hepatic porphyria", "start": 98, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aminolevulinate dehydratase", "start": 37, "end": 64}, "tail": {"text": "acute hepatic porphyria", "start": 98, "end": 121}}]}}, "schema": []}
{"input": "Recently, the IL-6 promoter polymorphism, at position-174 (G > C), has been associated to insulin sensitivity although contrasting data have been reported.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 14, "end": 18}], "disease": [{"text": "insulin sensitivity", "start": 90, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In infants with Down syndrome, concentrations of IL-8 levels were higher than in controls, whether or not corrected for total protein; NT-3 and CGRP were lower and VIP higher.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 144, "end": 148}], "disease": [{"text": "Down syndrome", "start": 16, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CGRP", "start": 144, "end": 148}, "tail": {"text": "Down syndrome", "start": 16, "end": 29}}]}}, "schema": []}
{"input": "Mutations in the gene encoding the gamma2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 83, "end": 89}], "disease": [{"text": "cardiac hypertrophy", "start": 106, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "These alterations were followed by inflammation; release of profibrogenic factors, such as IL-4, insulin-like growth factor 1, and CXCL5; progressive fibrosis; and premature mortality.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 131, "end": 136}], "disease": [{"text": "inflammation", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The BCL3 gene was identified on chromosome 19 adjacent to the breakpoint of the translocation, and has been proposed to be a candidate proto-oncogene which may play a role in leukemogenesis.", "output": {"entities": {"gene": [{"text": "BCL3 gene", "start": 4, "end": 13}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4.", "output": {"entities": {"gene": [{"text": "MBD4", "start": 120, "end": 124}], "disease": [{"text": "autistic", "start": 17, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MBD4", "start": 120, "end": 124}, "tail": {"text": "autistic", "start": 17, "end": 25}}]}}, "schema": []}
{"input": "While NAT2-smoking interaction gave an odds ratio of only 1. 70 (p = 0. 117), a disproportionate number of cancer cases were genotypically rapid: 12 of 17 cancer cases vs. 13 of 34 controls (odds ratio 3. 88; p = 0. 040).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 6, "end": 10}], "disease": [{"text": "smoking", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "ACE regulates the synthesis of endothelial nitric oxide (NO), which modulates autonomic nervous activity involved in the development of AF.", "output": {"entities": {"gene": [{"text": "ACE", "start": 0, "end": 3}], "disease": [{"text": "nervous", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The ETV6/GOT1 fusion, resulting from t (10; 12) (q24; p13), has been recently described in a myelodysplastic syndrome.", "output": {"entities": {"gene": [{"text": "GOT1", "start": 9, "end": 13}], "disease": [{"text": "myelodysplastic syndrome", "start": 93, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that aberrantly expressed CARM1 in tumor marker-positive cells promotes tumorigenesis in the early stages of hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "CARM1", "start": 49, "end": 54}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Moreover, LV-LMP-1 abrogated TNF-α induced MMP-3 and MMP-13 expression via inhibiting p65 translocation and MMP-3 and MMP-13 promoter activity.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 29, "end": 34}], "disease": [{"text": "translocation", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "IL-6 and IL-11 as markers for tumor aggressiveness and prognosis in gastric adenocarcinoma patients without mutations in Gp130 subunits.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "aggressiveness", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Previous study of transgenic mice with long-term expression of pleiomorphic adenoma gene-like 2 (PLAGL2), a surfactant protein C (SP-C) transactivator, in type II cells showed the manifestation of centrilobular emphysema in vivo.", "output": {"entities": {"gene": [{"text": "PLAGL2", "start": 97, "end": 103}], "disease": [{"text": "adenoma", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations of BRCA2 and NBS1 genes cause inherited recessive chromosomal instability syndromes and predispose to prostate cancer of poor prognosis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 22, "end": 27}], "disease": [{"text": "chromosomal instability", "start": 69, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The enhanced aggressiveness was based on MVP-mediated stabilization of the epidermal growth factor receptor (EGFR)/phosphatidyl-inositol-3-kinase (PI3K) signalling axis.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 147, "end": 151}], "disease": [{"text": "aggressiveness", "start": 13, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The present study examined whether SPP1 gene polymorphisms are associated with total serum IgE levels, atopy and asthma in a Japanese population.", "output": {"entities": {"gene": [{"text": "SPP1 gene", "start": 35, "end": 44}], "disease": [{"text": "atopy", "start": 103, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.", "output": {"entities": {"gene": [{"text": "LRRTM3", "start": 74, "end": 80}], "disease": [{"text": "ASD", "start": 84, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LRRTM3", "start": 74, "end": 80}, "tail": {"text": "ASD", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "These data suggest that one of the important mechanisms of triggering myocardial stunning is diastolic Ca (2 +) overload caused by activation of the reverse mode of NCX of cardiomyocytes during the initial period of reperfusion following brief ischemia.", "output": {"entities": {"gene": [{"text": "NCX", "start": 165, "end": 168}], "disease": [{"text": "myocardial stunning", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "CCN3, acting downstream of TGF-beta to block CCN2 and the up-regulation of ECM, may therefore serve to naturally limit fibrosis in vivo and provide opportunities for novel, endogenous-based therapeutic treatments.", "output": {"entities": {"gene": [{"text": "ECM", "start": 75, "end": 78}], "disease": [{"text": "fibrosis", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "To evaluate a possible association between wrist and periodontal destruction in rheumatoid arthritis, and between periodontal destruction, dry mouth, and labial salivary gland biopsy and the contribution of genetic factors (the shared epitope (SE) and IL1B (+ 3954) or TNFA (-238 or-308) gene polymorphisms).", "output": {"entities": {"gene": [{"text": "IL1B", "start": 252, "end": 256}], "disease": [{"text": "dry mouth", "start": 139, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We found that the length of telomere DNA decreased and hTERT protein expression increased in the carcinogenesis of esophageal epithelial cells; telomerase activity was significantly upregulated followed by a decrease of PinX1 expression in esophageal carcinoma compared with dysplasia and normal patients, which notably correlated with grade and lymph node metastasis.", "output": {"entities": {"gene": [{"text": "PinX1", "start": 220, "end": 225}], "disease": [{"text": "esophageal", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We then used short hairpin RNA to knock down NLRC3 expression in HCC cell lines and evaluated its effect on cell proliferation and apoptosis.", "output": {"entities": {"gene": [{"text": "NLRC3", "start": 45, "end": 50}], "disease": [{"text": "HCC", "start": 65, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NLRC3", "start": 45, "end": 50}, "tail": {"text": "HCC", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16. 3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumour suppressor gene, which is an adverse prognostic indicator.", "output": {"entities": {"gene": [{"text": "MAF", "start": 221, "end": 224}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Initial analysis suggested that several SNPs in the FTO and PFKP genes were associated with increased BMI, hip circumference, and weight.", "output": {"entities": {"gene": [{"text": "PFKP", "start": 60, "end": 64}], "disease": [{"text": "weight", "start": 130, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the relation among C3, C-reactive protein (CRP), factor B, and features of the insulin resistance (IR) syndrome in 143 first-degree relatives of South Asian subjects with ischemic stroke, 141 South Asian controls, and 121 white controls.", "output": {"entities": {"gene": [{"text": "CRP", "start": 70, "end": 73}], "disease": [{"text": "insulin resistance", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Developmental abnormalities in mouse embryos lacking the HDL receptor SR-BI.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 70, "end": 75}], "disease": [{"text": "abnormalities", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome.", "output": {"entities": {"gene": [{"text": "FGF8", "start": 98, "end": 102}], "disease": [{"text": "bilateral cryptorchidism", "start": 33, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms.", "output": {"entities": {"gene": [{"text": "NTNG2", "start": 197, "end": 202}], "disease": [{"text": "behavioral abnormalities", "start": 424, "end": 448}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTNG2", "start": 197, "end": 202}, "tail": {"text": "behavioral abnormalities", "start": 424, "end": 448}}]}}, "schema": []}
{"input": "The goal of the present study was to investigate the role of connective tissue growth factor (CCN2/CTGF), a profibrotic cytokine of the CCN (Cyr61, CTGF, and Nov) family, and its functional interactions with brain natriuretic peptide (BNP), an antifibrotic peptide, in the development of myocardial fibrosis and diastolic heart failure.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 99, "end": 103}], "disease": [{"text": "myocardial fibrosis", "start": 288, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of microRNA 21 (MIR21) and DICER1 transcripts suggests roles for microRNAs (miRNAs) in the pathogenesis of severe versus mild endometriosis, potentially through regulation of gene silencing and epigenetic mechanisms.", "output": {"entities": {"gene": [{"text": "DICER1", "start": 40, "end": 46}], "disease": [{"text": "endometriosis", "start": 139, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DICER1", "start": 40, "end": 46}, "tail": {"text": "endometriosis", "start": 139, "end": 152}}]}}, "schema": []}
{"input": "These findings suggest that HDAC6-mediated reversible acetylation might contribute to maintain proper neuronal activity in serotonergic neurons, and also provide a new therapeutic target for depression.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 28, "end": 33}], "disease": [{"text": "depression", "start": 191, "end": 201}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC6", "start": 28, "end": 33}, "tail": {"text": "depression", "start": 191, "end": 201}}]}}, "schema": []}
{"input": "Tripartite motif (TRIM)-62 is a putative tumor suppressor gene whose role in leukemia is unknown.", "output": {"entities": {"gene": [{"text": "TRIM", "start": 18, "end": 22}], "disease": [{"text": "leukemia", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Herein we report that a panel of serotype-matched GAS, which were clinically isolated from severe invasive but not from non-invaive infections, could abrogate functions of human polymorphnuclear neutrophils (PMN) in at least two independent ways; due to inducing necrosis to PMN by enhanced production of a pore-forming toxin streptolysin O (SLO) and due to impairment of PMN migration via digesting interleukin-8, a PMN attracting chemokine, by increased production of a serine protease ScpC.", "output": {"entities": {"gene": [{"text": "SLO", "start": 342, "end": 345}], "disease": [{"text": "necrosis", "start": 263, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "This type of mutation is the same as those found in two Japanese XPA patients with mild clinical symptoms.", "output": {"entities": {"gene": [{"text": "XPA", "start": 65, "end": 68}], "disease": [{"text": "mild", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "r the TC C776G polymorphism has a significant effect on the hematological and neurological manifestations of B12 deficiency or on vascular and other morbidities associated with hyperhomocysteinemia.", "output": {"entities": {"gene": [{"text": "B12", "start": 109, "end": 112}], "disease": [{"text": "neurological manifestations", "start": 78, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "A microRNA, miR-34b, that suppresses the expression of & #945; 4 through specific binding to the 3'-untranslated region of & #945; 4 is downregulated in transformed or human lung tumors.", "output": {"entities": {"gene": [{"text": "miR-34b", "start": 12, "end": 19}], "disease": [{"text": "lung tumors", "start": 174, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-34b", "start": 12, "end": 19}, "tail": {"text": "lung tumors", "start": 174, "end": 185}}]}}, "schema": []}
{"input": "PHC patients with hypersplenism who displayed elevated levels of alanine transaminase (ALT), aspartate transaminase (AST), γ-glutamyltransferase (GGT), ALK, phosphatase, and prolonged prothrombin time (PT) had a significantly increased risk of HCC.", "output": {"entities": {"gene": [{"text": "AST", "start": 117, "end": 120}], "disease": [{"text": "hypersplenism", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Encapsulation in hollow fibres of xenogeneic cells engineered to secrete IL-4 or IL-13 ameliorates murine collagen-induced arthritis (CIA).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 81, "end": 86}], "disease": [{"text": "collagen-induced arthritis", "start": 106, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-13", "start": 81, "end": 86}, "tail": {"text": "collagen-induced arthritis", "start": 106, "end": 132}}]}}, "schema": []}
{"input": "We here show that genetic ablation of keratin 17 (Krt17) protein, which is induced in basaloid skin tumors and co-polymerizes with Krt5 in vivo, delays basaloid follicular hamartoma tumor initiation and growth in mice with constitutive Hh signaling in epidermis.", "output": {"entities": {"gene": [{"text": "Krt17", "start": 50, "end": 55}], "disease": [{"text": "tumor initiation", "start": 182, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Moreover, myosin light chain phosphorylation, a determinant of SMC tone, was higher in PASMCs isolated from SM22α-HIF-1α (-/-) mice compared with wild-type PASMCs, during both normoxia and after acute hypoxia.", "output": {"entities": {"gene": [{"text": "SMC", "start": 63, "end": 66}], "disease": [{"text": "hypoxia", "start": 201, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Chlamydia trachomatis modulates expression of tumor suppressor gene caveolin-1 and oncogene C-myc in the transformation zone of non-neoplastic cervical tissue.", "output": {"entities": {"gene": [{"text": "C-myc", "start": 92, "end": 97}], "disease": [{"text": "non-neoplastic", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Clinically visible conjunctival inflammation was associated with increased S100A7, IL1B, CXCL5, MMP9 and MMP12 expression.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 89, "end": 94}], "disease": [{"text": "inflammation", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Allelic variation of the 5-HT2C receptor (HTR2C) in bulimia nervosa and binge eating disorder.", "output": {"entities": {"gene": [{"text": "HTR2C", "start": 42, "end": 47}], "disease": [{"text": "binge eating disorder", "start": 72, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "p53 mutations and microsatellite instability in sporadic gastric cancer: when guardians fail.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In secondary analyses among Parkinson disease subjects with GBA mutations, maximal area of nigral echogenicity did not differ based on GBA mutation severity or mutation number.", "output": {"entities": {"gene": [{"text": "GBA", "start": 60, "end": 63}], "disease": [{"text": "secondary", "start": 3, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that cells responding to estrogen will proliferate despite impaired in DNA2 activity, potentially promoting genomic instability and triggering cancer development.", "output": {"entities": {"gene": [{"text": "DNA2", "start": 94, "end": 98}], "disease": [{"text": "genomic instability", "start": 131, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Most cases harbor the (11; 22) (q24; q12) chromosomal translocation that encodes the EWS/FLI oncoprotein.", "output": {"entities": {"gene": [{"text": "EWS", "start": 85, "end": 88}], "disease": [{"text": "chromosomal translocation", "start": 42, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "By contrast, Ccdc11 localizes exclusively to the basal bodies of cilia within Kupffer' s vesicle, the organ of laterality of teleost fishes, and within the spinal canal.", "output": {"entities": {"gene": [{"text": "Ccdc11", "start": 13, "end": 19}], "disease": [{"text": "laterality", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "For example, in an acetaminophen (APAP)-induced hepatocellular injury model, plasma let-7b-5p was up-regulated as early as 3 & #8201; h after dosing, whereas a significant change in ALT level was observed at 12 & #8201; h. We then focused on the DILI type-specific miRNAs in plasma that were up-regulated at the early stage of injury.", "output": {"entities": {"gene": [{"text": "let-7b", "start": 84, "end": 90}], "disease": [{"text": "DILI", "start": 246, "end": 250}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "let-7b", "start": 84, "end": 90}, "tail": {"text": "DILI", "start": 246, "end": 250}}]}}, "schema": []}
{"input": "To address these issues, we studied 17 patients with plasma cell dyscrasias (16 MM, 1 plasmacytoma) by Southern blotting using the major breakpoint region (MBR), minor cluster region (MCR), and 5' cDNA (pB16) BCL2 breakpoint probes; with the BCL1 major translocation cluster (MTC) breakpoint probe; and with a probe to the MYC-associated MLVI-4 region (PA1. 3SB).", "output": {"entities": {"gene": [{"text": "MYC", "start": 323, "end": 326}], "disease": [{"text": "plasma cell dyscrasias", "start": 53, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Chronic infusion of IGF1 alone had no effect on any of these parameters, but coinfusion of IGF1 with the antagonist completely reversed JB-1 effects on food intake and estrous cyclicity and partially reversed the effects on body weight.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 20, "end": 24}], "disease": [{"text": "body weight", "start": 224, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).", "output": {"entities": {"gene": [{"text": "MEGF10", "start": 13, "end": 19}], "disease": [{"text": "EMARDD", "start": 138, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEGF10", "start": 13, "end": 19}, "tail": {"text": "EMARDD", "start": 138, "end": 144}}]}}, "schema": []}
{"input": "Expression of GLUT-1 and transglutaminase 2 is increased in aggressive breast cancer, whereas claudin-1, which is expressed in normal tissues, is absent in such tumors.", "output": {"entities": {"gene": [{"text": "claudin-1", "start": 94, "end": 103}], "disease": [{"text": "breast cancer", "start": 71, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "claudin-1", "start": 94, "end": 103}, "tail": {"text": "breast cancer", "start": 71, "end": 84}}]}}, "schema": []}
{"input": "The current results indicated that CRM1 expressed in a subpopulation of GC with aggressive behavior and could serve as a prognosis marker for poor outcome.", "output": {"entities": {"gene": [{"text": "CRM1", "start": 35, "end": 39}], "disease": [{"text": "aggressive behavior", "start": 80, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Moreover, MCPIP1 induction in vivo resulted in complete regression of established tumors and a significant reduction in metastatic disease.", "output": {"entities": {"gene": [{"text": "MCPIP1", "start": 10, "end": 16}], "disease": [{"text": "regression", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "MR-1 was up-regulated at both mRNA (5. 459 ± 0. 639 vs 1. 233 ± 0. 238, P < 0. 001) and protein levels (34. 2% vs 13. 2%, P = 0. 003) in gastric cancer tissues.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 0, "end": 4}], "disease": [{"text": "gastric cancer", "start": 137, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Expression of CXCL17, CXCL10, CXCL9 and CCL2 was assessed in primary colon cancer tumours, colon carcinoma cell lines and normal colon tissue at mRNA and protein levels by real-time qRT-PCR, immunohistochemistry, two-colour immunofluorescence and immunomorphometry.", "output": {"entities": {"gene": [{"text": "CXCL9", "start": 30, "end": 35}], "disease": [{"text": "colon carcinoma", "start": 91, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Metastatic lymph nodes were frequently more positive for HBB compared to the corresponding primary tumors, whereas BO metastases had a lower expression than BV metastases, suggesting a positive correlation between HBB and ability of bone metastasis to rapidly spread to other organs.", "output": {"entities": {"gene": [{"text": "HBB", "start": 57, "end": 60}], "disease": [{"text": "bone metastasis", "start": 233, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "The copper content of areca nut is high and the possible role of copper as a mediator of fibrosis is supported by the demonstration of up regulation of lysyl oxidase in OSF biopsies.", "output": {"entities": {"gene": [{"text": "OSF", "start": 169, "end": 172}], "disease": [{"text": "fibrosis", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "NAT2 slow acetylation status was not associated with risk among never (1. 04; 0. 71-1. 51), former (0. 95; 0. 75-1. 20) or current smokers (1. 33; 0. 91-1. 95); however, a relationship emerged when smoking intensity was evaluated.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 198, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Using a segmental allergen challenge model, we have examined the in vivo expression of IL-13 in the bronchoalveolar lavage (BAL) cells of atopic patients.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 87, "end": 92}], "disease": [{"text": "atopic", "start": 138, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, Egr2 (I268N/I268N) mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days.", "output": {"entities": {"gene": [{"text": "Egr2", "start": 15, "end": 19}], "disease": [{"text": "mild", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5).", "output": {"entities": {"gene": [{"text": "PACAP", "start": 375, "end": 380}], "disease": [{"text": "cerebral palsy", "start": 129, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The D52-86 is associated with varied phenotypes including pulmonary disease (pulmonary fibrosis) as the first presentation.", "output": {"entities": {"gene": [{"text": "D52", "start": 4, "end": 7}], "disease": [{"text": "pulmonary fibrosis", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The defining cytogenetic abnormality of Ewing' s sarcoma is the presence of a balanced t (11; 22) translocation expressing the EWS/FLI-1 chimeric fusion protein.", "output": {"entities": {"gene": [{"text": "EWS", "start": 127, "end": 130}], "disease": [{"text": "translocation", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "These findings imply AP4 as a new regulator of EMT that contributes to metastatic processes in CRC and presumably other carcinomas.", "output": {"entities": {"gene": [{"text": "AP4", "start": 21, "end": 24}], "disease": [{"text": "carcinomas", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.", "output": {"entities": {"gene": [{"text": "FBLN5", "start": 93, "end": 98}], "disease": [{"text": "prostate cancer", "start": 103, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBLN5", "start": 93, "end": 98}, "tail": {"text": "prostate cancer", "start": 103, "end": 118}}]}}, "schema": []}
{"input": "Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.", "output": {"entities": {"gene": [{"text": "C6orf70", "start": 74, "end": 81}], "disease": [{"text": "6q terminal deletion syndrome", "start": 31, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C6orf70", "start": 74, "end": 81}, "tail": {"text": "6q terminal deletion syndrome", "start": 31, "end": 60}}]}}, "schema": []}
{"input": "Defects of Chk2 occur in subsets of diverse sporadic malignancies and predispose to several types of hereditary carcinomas.", "output": {"entities": {"gene": [{"text": "Chk2", "start": 11, "end": 15}], "disease": [{"text": "sporadic", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition.", "output": {"entities": {"gene": [{"text": "CHEDDA", "start": 103, "end": 109}], "disease": [{"text": "hypotonia", "start": 122, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHEDDA", "start": 103, "end": 109}, "tail": {"text": "hypotonia", "start": 122, "end": 131}}]}}, "schema": []}
{"input": "It included five genes: CETN3, AC093510. 2, POLR3G, LYSMD3 and the proximal part of GPR98/MASS1, a known epilepsy gene.", "output": {"entities": {"gene": [{"text": "POLR3G", "start": 44, "end": 50}], "disease": [{"text": "epilepsy", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The study provides evidence for significant changes of expression of AT1aR mRNA, V1aR mRNA and NOS1 mRNA in the specific brain regions of rats with the renovascular hypertension.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 95, "end": 99}], "disease": [{"text": "renovascular hypertension", "start": 152, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "A statistically significant effect was seen for SULT1A2 genotype on a 24DNT Hb-adduct; GSTP1 genotype on a 2, 4, 6-trinitrotoluene Hb-adduct; and SULT1A1, SULT1A2, NAT1, GSTT1, and GSTP1 genotypes on chromosomal aberrations in the exposed workers.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 170, "end": 175}], "disease": [{"text": "chromosomal aberrations", "start": 200, "end": 223}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GSTT1", "start": 170, "end": 175}, "tail": {"text": "chromosomal aberrations", "start": 200, "end": 223}}]}}, "schema": []}
{"input": "Our finding of a pathogenic MOG mutation highlights a major role for myelin and oligodendrocytes in narcolepsy and further emphasizes glial involvement in neurodegeneration and neurobehavioral disorders. [corrected].", "output": {"entities": {"gene": [{"text": "MOG", "start": 28, "end": 31}], "disease": [{"text": "narcolepsy", "start": 100, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MOG", "start": 28, "end": 31}, "tail": {"text": "narcolepsy", "start": 100, "end": 110}}]}}, "schema": []}
{"input": "Here we report that 89% of RED products (CAG/CTG repeats) & gt; 120 nt (n = 202) detected in affective disorder patients as well as unaffected family members and controls correlate with expansions at two repeat loci, ERDA1 on chromosome 17q21. 3 and CTG18. 1 on 18q21. 1.", "output": {"entities": {"gene": [{"text": "ERDA1", "start": 217, "end": 222}], "disease": [{"text": "affective disorder", "start": 93, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERDA1", "start": 217, "end": 222}, "tail": {"text": "affective disorder", "start": 93, "end": 111}}]}}, "schema": []}
{"input": "The aims of this study are to learn if NCTD has a protective action against severe proteinuria and consequent interstitial inflammation and fibrosis, and if the inhibition of nuclear factor-kappaB (NF-kappaB) and connective tissue growth factor (CTGF) by NCTD might be involved.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 198, "end": 207}], "disease": [{"text": "proteinuria", "start": 83, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The human SP4 gene is therefore examined for its association with both bipolar disorder and schizophrenia in European Caucasian and Chinese populations respectively.", "output": {"entities": {"gene": [{"text": "SP4", "start": 10, "end": 13}], "disease": [{"text": "bipolar disorder", "start": 71, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP4", "start": 10, "end": 13}, "tail": {"text": "bipolar disorder", "start": 71, "end": 87}}]}}, "schema": []}
{"input": "Specifically, the expression of LOX and HIF-1α markedly increases under hypoxic conditions and decreases after reoxygenation.", "output": {"entities": {"gene": [{"text": "LOX", "start": 32, "end": 35}], "disease": [{"text": "hypoxic", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "This study selected 25 single nucleotide polymorphisms in 23 loci identified from recently published kidney-related genome-wide association studies in individuals of European ancestry to evaluate their associations with kidney function (estimated GFR; individuals 18 years or older, up to 3282 individuals) and albuminuria (urinary albumin to creatinine ratio; n = 3552) in the Strong Heart Family Study.", "output": {"entities": {"gene": [{"text": "GFR", "start": 247, "end": 250}], "disease": [{"text": "albuminuria", "start": 311, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "To assess the extent of functional conservation we have tested the capacity of a human DAZ gene contained in a 225-kb yeast artificial chromosome to complement the sterile phenotype of the Dazl null mouse (Dazl-/-), which is characterized by severe germ-cell depletion and meiotic failure.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 87, "end": 90}], "disease": [{"text": "sterile", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref. 1).", "output": {"entities": {"gene": [{"text": "RSMD1", "start": 20, "end": 25}], "disease": [{"text": "rigid spine muscular dystrophy 1", "start": 64, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RSMD1", "start": 20, "end": 25}, "tail": {"text": "rigid spine muscular dystrophy 1", "start": 64, "end": 96}}]}}, "schema": []}
{"input": "We demonstrate mitochondrial localization of PANK2 and speculate on mechanisms of secondary iron accumulation in PKAN.", "output": {"entities": {"gene": [{"text": "PANK2", "start": 45, "end": 50}], "disease": [{"text": "secondary", "start": 82, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2).", "output": {"entities": {"gene": [{"text": "DMT1", "start": 95, "end": 99}], "disease": [{"text": "Microcytic anemia and hepatic iron overload", "start": 0, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DMT1", "start": 95, "end": 99}, "tail": {"text": "Microcytic anemia and hepatic iron overload", "start": 0, "end": 43}}]}}, "schema": []}
{"input": "We examined four different families and two sporadic cases and detected missense sequence variants in SCN9A to be present in primary erythermalgia patients.", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 102, "end": 107}], "disease": [{"text": "primary erythermalgia", "start": 125, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN9A", "start": 102, "end": 107}, "tail": {"text": "primary erythermalgia", "start": 125, "end": 146}}]}}, "schema": []}
{"input": "We studied whether CXCR4-MIF associations occur in rat bladder and the effect of experimental cystitis.", "output": {"entities": {"gene": [{"text": "MIF", "start": 25, "end": 28}], "disease": [{"text": "cystitis", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of soluble biglycan in MRL/lpr mice raised plasma and renal levels of CXCL13 and caused accumulation of B cells with an enhanced B1/B cell ratio in the kidney, worsening of organ damage, and albuminuria.", "output": {"entities": {"gene": [{"text": "biglycan", "start": 26, "end": 34}], "disease": [{"text": "albuminuria", "start": 206, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "In summary, KGF increases pigment production and deposition in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "KGF", "start": 12, "end": 15}], "disease": [{"text": "pigment", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Enpp2 (+/-) mice and adipocyte-specific Enpp2 knockout mice fed a high-fat diet showed smaller body weight gains and less insulin resistance than control mice fed the same diet.", "output": {"entities": {"gene": [{"text": "Enpp2", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "When the HCC was smaller, the L-FABP-negative area often corresponded to a \" nodule-in-nodule \" appearance.", "output": {"entities": {"gene": [{"text": "HCC", "start": 9, "end": 12}], "disease": [{"text": "nodule", "start": 77, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "NAT2 activity may be particulary critical in smoking related hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We conclude that differential regulation of RA, TGFB and PR pathway transcription occurs in fibroid-associated SMC and-fibroblasts and that investigation of paracrine interactions between different cell types within the fibroid microenvironment provides an important new paradigm for understanding the pathophysiology of this common disease.", "output": {"entities": {"gene": [{"text": "SMC", "start": 111, "end": 114}], "disease": [{"text": "fibroid", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "CDK2 has been implicated in maintenance of gonadal homeostasis, as knockout mice display reproductive abnormalities.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 0, "end": 4}], "disease": [{"text": "abnormalities", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Immunofluorescent labelling of paxillin and vinculin, another component of focal contact, revealed that these structures were conserved upon serum starvation when MARCKS was overexpressed but not in the control cells.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 163, "end": 169}], "disease": [{"text": "starvation", "start": 147, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Humans with FSH beta gene mutations tend to have a more severe phenotype than those with FSHR gene mutations, although infertility and varying degrees of impaired sex steroid production occur in both types of mutations.", "output": {"entities": {"gene": [{"text": "FSHR gene", "start": 89, "end": 98}], "disease": [{"text": "infertility", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In patients with critical limb ischemia, the increase in Cp concentration and activity correlated significantly with CRP concentration (r = 0. 46; P = 0. 0007) (r = 0. 62; P = 0. 0001), respectively.", "output": {"entities": {"gene": [{"text": "Cp", "start": 57, "end": 59}], "disease": [{"text": "ischemia", "start": 31, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cp", "start": 57, "end": 59}, "tail": {"text": "ischemia", "start": 31, "end": 39}}]}}, "schema": []}
{"input": "Therefore, we analyzed clinicopathological characteristics, microsatellite instability (MSI), and expression of MUC1, MUC2, MUC5AC mucin core proteins, and p53 by immunohistochemistry in relation to tumor location.", "output": {"entities": {"gene": [{"text": "MUC2", "start": 118, "end": 122}], "disease": [{"text": "microsatellite instability", "start": 60, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "For EGFR IHC, 20, 11, 11 and 17 cases showed a negative, a low, an intermediate or a high staining level, respectively, and seven cases showed gene amplification by FISH, with two, 19, 11 and 20 cases showing balanced monosony, disomy, trisomy, and polysomy respectively.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 4, "end": 8}], "disease": [{"text": "trisomy", "start": 236, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008.", "output": {"entities": {"gene": [{"text": "miR-23a", "start": 36, "end": 43}], "disease": [{"text": "autistic", "start": 149, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-23a", "start": 36, "end": 43}, "tail": {"text": "autistic", "start": 149, "end": 157}}]}}, "schema": []}
{"input": "SREBP isoforms expression was assessed in lean and obese rat fat cells and showed no differences in the level of ADD1/SREBP1 mRNA.", "output": {"entities": {"gene": [{"text": "ADD1", "start": 113, "end": 117}], "disease": [{"text": "obese", "start": 51, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Sall1 is expressed in the metanephric mesenchyme in the developing kidney, and mice deficient in Sall1 show kidney agenesis or dysgenesis.", "output": {"entities": {"gene": [{"text": "Sall1", "start": 0, "end": 5}], "disease": [{"text": "agenesis", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The new findings add to an emerging pattern of SFD mutations which all seem to affect the C-terminal region of the mature TIMP3 protein.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 122, "end": 127}], "disease": [{"text": "SFD", "start": 47, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIMP3", "start": 122, "end": 127}, "tail": {"text": "SFD", "start": 47, "end": 50}}]}}, "schema": []}
{"input": "We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).", "output": {"entities": {"gene": [{"text": "ADCA", "start": 368, "end": 372}], "disease": [{"text": "hereditary sensory and autonomic neuropathy", "start": 208, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Some of these mutated genes (ADCY9, ADCY2, GNB5, K-ras, HDAC6 and ARHGEF17) also belong to the' Phospholipase C Signaling' network, which suggests that this pathway and its mutated genes may contribute to a lung metastasis from colon cancer.", "output": {"entities": {"gene": [{"text": "ADCY2", "start": 36, "end": 41}], "disease": [{"text": "lung metastasis", "start": 207, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Thus, we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of JME in Mexican patients.", "output": {"entities": {"gene": [{"text": "EFHC1", "start": 51, "end": 56}], "disease": [{"text": "JME", "start": 88, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFHC1", "start": 51, "end": 56}, "tail": {"text": "JME", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "Indomethacin and ASA, which suppressed PGE (2) generation both in the non-ulcerated and ulcerated gastric mucosa, significantly delayed the rate of ulcer healing and this was accompanied by the fall in GBF at ulcer margin and further elevation of plasma IL-1beta and TNFalpha levels, which was sustained up to the end of the study.", "output": {"entities": {"gene": [{"text": "GBF", "start": 202, "end": 205}], "disease": [{"text": "fall", "start": 194, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the expression of presenilin-1 in human U87 MG astrocytoma and human SK-N-SH neuroblastoma cells is only increased when cells are treated with glial cell line-derived neurotrophic factor or transforming growth factor-beta3.", "output": {"entities": {"gene": [{"text": "U87", "start": 55, "end": 58}], "disease": [{"text": "neuroblastoma", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The t (8; 16) (p11; p13) translocation, associated with poor prognosis acute monocytic leukemia, fuses MYST3 on chromosome region 8p11 to CBP on chromosome region 16p13.", "output": {"entities": {"gene": [{"text": "p11", "start": 15, "end": 18}], "disease": [{"text": "acute monocytic leukemia", "start": 71, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We also show that NF-κB is a central player in MDV induced neoplastic transformation of CD30-expressing lymphocytes in vivo.", "output": {"entities": {"gene": [{"text": "CD30", "start": 88, "end": 92}], "disease": [{"text": "neoplastic transformation", "start": 59, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We conclude that EPB41L3, RASSF2 and TSP-1 genes are involved in the pathogenesis of diffuse gliomas, and that EPB41L3 and TSP-1 hypermethylation are of prognostic significance.", "output": {"entities": {"gene": [{"text": "RASSF2", "start": 26, "end": 32}], "disease": [{"text": "gliomas", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Gabexate mesilate treatment also significantly improved survival rate after a lethal dose of CCl4 (0. 5 ml/100 g rat weight) from 0% to 20%.", "output": {"entities": {"gene": [{"text": "CCl4", "start": 93, "end": 97}], "disease": [{"text": "weight", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Pure SPG is characterised by progressive spasticity and weakness of the lower-limbs, and occasionally sensory disturbances or bladder dysfunction.", "output": {"entities": {"gene": [{"text": "SPG", "start": 5, "end": 8}], "disease": [{"text": "progressive spasticity", "start": 29, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in LHCGR, p. N400S, was homozygous in sisters with EFS and/or infertility, but not in their unaffected siblings or parents.", "output": {"entities": {"gene": [{"text": "EFS", "start": 77, "end": 80}], "disease": [{"text": "infertility", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Notably, Bmp6-null mice have a phenotype resembling hereditary hemochromatosis, with reduced hepcidin expression and tissue iron overload.", "output": {"entities": {"gene": [{"text": "Bmp6", "start": 9, "end": 13}], "disease": [{"text": "hemochromatosis", "start": 63, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bmp6", "start": 9, "end": 13}, "tail": {"text": "hemochromatosis", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "GLUT2 mutations, translocation, and receptor function in diet sugar managing.", "output": {"entities": {"gene": [{"text": "GLUT2", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.", "output": {"entities": {"gene": [{"text": "WWOX", "start": 110, "end": 114}], "disease": [{"text": "dementia", "start": 240, "end": 248}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WWOX", "start": 110, "end": 114}, "tail": {"text": "dementia", "start": 240, "end": 248}}]}}, "schema": []}
{"input": "These results suggest OLFM4 is downregulated by miR-486-5p, which contributes to ovarian cancer tumorigenesis.", "output": {"entities": {"gene": [{"text": "OLFM4", "start": 22, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, this is a new AICDA mutation found in HIGM2 patients.", "output": {"entities": {"gene": [{"text": "AICDA", "start": 32, "end": 37}], "disease": [{"text": "HIGM2", "start": 56, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AICDA", "start": 32, "end": 37}, "tail": {"text": "HIGM2", "start": 56, "end": 61}}]}}, "schema": []}
{"input": "This study investigates the role of PGC-1α during normal and pathological vascularization in the retina.", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 36, "end": 42}], "disease": [{"text": "vascularization", "start": 74, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "GSPE also significantly reduced the expression levels of TNF-α, p-IKKα/β, p-IκBα and the translocation of NF-κB in the colon mucosa.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 57, "end": 62}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Unlike the non-tumoral controls, PRND was aberrantly expressed in glioblastoma multiforme and in two glioblastoma multiforme-derived cell lines, even in the absence of the PRND gene amplification.", "output": {"entities": {"gene": [{"text": "PRND gene", "start": 172, "end": 181}], "disease": [{"text": "glioblastoma multiforme", "start": 66, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.", "output": {"entities": {"gene": [{"text": "RAB3GAP2", "start": 31, "end": 39}], "disease": [{"text": "Martsolf syndrome", "start": 117, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB3GAP2", "start": 31, "end": 39}, "tail": {"text": "Martsolf syndrome", "start": 117, "end": 134}}]}}, "schema": []}
{"input": "The type 2 diabetes susceptibility alleles at HHEX-IDE and CDKAL1 loci are associated with low BMI at age 8 years in children who were born large for gestational age.", "output": {"entities": {"gene": [{"text": "IDE", "start": 51, "end": 54}], "disease": [{"text": "large for gestational age", "start": 140, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of NFATc2 with concomitant downregulation of KV1. 5 channels may contribute to abnormal vascular remodeling resulting in PH in this model.", "output": {"entities": {"gene": [{"text": "NFATc2", "start": 16, "end": 22}], "disease": [{"text": "PH", "start": 134, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NFATc2", "start": 16, "end": 22}, "tail": {"text": "PH", "start": 134, "end": 136}}]}}, "schema": []}
{"input": "The objective of this study is to examine the relationship among serum levels of 25-hydroxyvitamin D (25 [OH] D), polymorphisms in vitamin D-associated genes, and the presence and progression of coronary artery calcification (CAC) in adults with type 1 diabetes.", "output": {"entities": {"gene": [{"text": "CAC", "start": 226, "end": 229}], "disease": [{"text": "coronary artery calcification", "start": 195, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "These results provide genetic evidence that overexpression of human S100B acts to exacerbate brain damage and periinfarct reactive gliosis (astrocytosis and microgliosis) during the subacute phase of pMCAO.", "output": {"entities": {"gene": [{"text": "S100B", "start": 68, "end": 73}], "disease": [{"text": "astrocytosis", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Additionally, JMJD2A cooperated with ETV1 to increase expression of yes associated protein 1 (YAP1), a Hippo pathway component that itself was associated with prostate tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "ETV1", "start": 37, "end": 41}], "disease": [{"text": "aggressiveness", "start": 174, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the small integral membrane protein of lysosome/late endosome, the myotubularin-related protein 2 (MTMR2), and MTMR13/set-binding factor 2 are involved in vesicle and membrane transport and the regulation of protein degradation.", "output": {"entities": {"gene": [{"text": "small integral membrane protein of lysosome/late endosome", "start": 17, "end": 74}], "disease": [{"text": "vesicle", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 14, "end": 18}], "disease": [{"text": "Marfan syndrome", "start": 37, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 14, "end": 18}, "tail": {"text": "Marfan syndrome", "start": 37, "end": 52}}]}}, "schema": []}
{"input": "In contrast, in patients with diverticulitis, an enhanced number of B7-1 and B7-2 and CTLA-4 was observed.", "output": {"entities": {"gene": [{"text": "B7-1", "start": 68, "end": 72}], "disease": [{"text": "diverticulitis", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Older MG (+)-fed mice, similar to old Reg controls, developed MS, increased brain amyloid-β42, deposits of AGEs, gliosis, and cognitive deficits, accompanied by suppressed SIRT1, nicotinamide phosphoribosyltransferase, AGE receptor 1, and PPARγ.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 239, "end": 244}], "disease": [{"text": "cognitive deficits", "start": 126, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In contrast, no association between NAT1 * 10 genotype and 3-or 4 ABP-hemoglobin adduct levels was observed after adjustment for NAT2 phenotype, smoking, and race.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 129, "end": 133}], "disease": [{"text": "smoking", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "A limited number of MSH2 and MLH1 mutations have been described for sporadic colorectal cancers.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 20, "end": 24}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our data show that PI3Kgamma is critical for the induction of hypertrophy, fibrosis, and cardiac dysfunction function in response to beta-adrenergic receptor stimulation in vivo.", "output": {"entities": {"gene": [{"text": "PI3Kgamma", "start": 19, "end": 28}], "disease": [{"text": "fibrosis", "start": 75, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PI3Kgamma", "start": 19, "end": 28}, "tail": {"text": "fibrosis", "start": 75, "end": 83}}]}}, "schema": []}
{"input": "In a cross-sectional, hospital-based setting, we compared the amino acid sequences of NS5A-PKR-binding domain and E2-PePHD in the sera of 104 chronic hepatitis, 44 cirrhosis and 96 HCC patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 181, "end": 184}], "disease": [{"text": "chronic hepatitis", "start": 142, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Myocilin is expressed in the glomerulus of the kidney and induced in mesangioproliferative glomerulonephritis.", "output": {"entities": {"gene": [{"text": "Myocilin", "start": 0, "end": 8}], "disease": [{"text": "glomerulonephritis", "start": 91, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The present study was designed to consider whether amino acid substitution polymorphisms in O6-methylguanine-DNA methyltransferase (MGMT) and DNA methyl transferase 1 (DNMT1) genes may be associated with the genetic susceptibility to sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 168, "end": 173}], "disease": [{"text": "sporadic", "start": 234, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether gene delivery with the human cytochrome P450 epoxygenase 2J2 (CYP2J2) ameliorates monocrotaline (MCT)-induced pulmonary hypertension in rats.", "output": {"entities": {"gene": [{"text": "CYP2J2", "start": 86, "end": 92}], "disease": [{"text": "pulmonary hypertension", "start": 134, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We isolated rat UCP2 cDNA, which has been proposed to play an important role in mammalian thermogenesis and body weight regulation.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 16, "end": 20}], "disease": [{"text": "body weight", "start": 108, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder.", "output": {"entities": {"gene": [{"text": "PLA2", "start": 57, "end": 61}], "disease": [{"text": "affective disorder", "start": 142, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLA2", "start": 57, "end": 61}, "tail": {"text": "affective disorder", "start": 142, "end": 160}}]}}, "schema": []}
{"input": "The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region.", "output": {"entities": {"gene": [{"text": "DCT", "start": 4, "end": 7}], "disease": [{"text": "pigmentation", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD.", "output": {"entities": {"gene": [{"text": "SOX2", "start": 77, "end": 81}], "disease": [{"text": "SOD", "start": 123, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX2", "start": 77, "end": 81}, "tail": {"text": "SOD", "start": 123, "end": 126}}]}}, "schema": []}
{"input": "We show that one intronic SNP in PDCD1 is associated with development of SLE in Europeans (found in 12% of affected individuals versus 5% of controls; P = 0. 00001, r. r.", "output": {"entities": {"gene": [{"text": "PDCD1", "start": 33, "end": 38}], "disease": [{"text": "SLE", "start": 73, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDCD1", "start": 33, "end": 38}, "tail": {"text": "SLE", "start": 73, "end": 76}}]}}, "schema": []}
{"input": "There was a positive correlation between the activating a isoform and liver stiffness and an inverse relationship between the immunosuppressive c isoform and the fibrosis 4 score, suggesting a potentially important role of NKp30 isoforms in influencing liver damage and ensuing fibrosis.", "output": {"entities": {"gene": [{"text": "NKp30", "start": 223, "end": 228}], "disease": [{"text": "fibrosis", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Fraser syndrome (MIM 219000) is a rare genetic disorder with major features including cryptophthalmos, syndactyly, and genital anomalies.", "output": {"entities": {"gene": [{"text": "MIM", "start": 17, "end": 20}], "disease": [{"text": "syndactyly", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, aberrant alternative splicing of the LMNA gene via the usage of a cryptic splice site has been shown to be the cause of most cases of Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic condition characterized by an accelerated aging phenotype due to the accumulation of a truncated form of lamin A known as progerin.", "output": {"entities": {"gene": [{"text": "progerin", "start": 331, "end": 339}], "disease": [{"text": "aging", "start": 251, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "We further identified a refined signature of 36 genes as the gene panel, including SOX2, POU3F2, FGFR2, GAP43, NTRK2, NTRK3, and NKX2-2, which are highly enriched in the nervous system.", "output": {"entities": {"gene": [{"text": "GAP43", "start": 104, "end": 109}], "disease": [{"text": "nervous system", "start": 170, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We determined the distribution of hippocampal FGF-2 and its receptor (FGFR1) mRNA in post-mortem brains of people who suffered from major depression, bipolar disorder and schizophrenia and those of controls.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 46, "end": 51}], "disease": [{"text": "major depression", "start": 132, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-2", "start": 46, "end": 51}, "tail": {"text": "major depression", "start": 132, "end": 148}}]}}, "schema": []}
{"input": "These results show that KCa3. 1 confers an invasive phenotype that significantly worsens a patient' s outlook, and suggests that KCa3. 1 represents a viable therapeutic target to reduce glioma invasion.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 129, "end": 136}], "disease": [{"text": "glioma", "start": 186, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The progesterone may down-regulate IGF-I expression through PRB, and PRA appears to inhibit this function of progesterone by inhibiting the transcription of PRB; thus, the action of progesterone on leiomyoma growth may depend on different ratios of PRA and PRB.", "output": {"entities": {"gene": [{"text": "PRA", "start": 69, "end": 72}], "disease": [{"text": "leiomyoma", "start": 198, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "K-Ras (K-Ras gene) siRNA transfection of EC9706 esophageal squamous carcinoma cells decreased the expression of K-Ras, MAPK1 and cyclin D1 at the mRNA and protein level.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 129, "end": 138}], "disease": [{"text": "esophageal", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "GRP78, activating transcription factor 6, p50, and p65 were increased in symptomatic versus asymptomatic ZZ monocytes.", "output": {"entities": {"gene": [{"text": "p50", "start": 42, "end": 45}], "disease": [{"text": "asymptomatic", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "A few mutations have been described in the CRYGC gene in autosomal dominant cataract, none of them with pulverulent cataract making clear the clinical heterogeneity of congenital cataract.", "output": {"entities": {"gene": [{"text": "CRYGC", "start": 43, "end": 48}], "disease": [{"text": "pulverulent cataract", "start": 104, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRYGC", "start": 43, "end": 48}, "tail": {"text": "pulverulent cataract", "start": 104, "end": 124}}]}}, "schema": []}
{"input": "We found that thrombin-induced COX-2 expression, PGE2 release and cardiomyocyte hypertrophy markers (increase in ANF/BNP, α-actin expression and cell surface area) was attenuated by pretreatment with CORM-2 which was partially reversed by hemoglobin (Hb) or ZnPP (an inhibitor of HO-1 activity), suggesting that HO-1/CO system may be of clinical importance to ameliorate heart failure through inhibition of inflammatory responses.", "output": {"entities": {"gene": [{"text": "BNP", "start": 117, "end": 120}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 66, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.", "output": {"entities": {"gene": [{"text": "PIGA", "start": 17, "end": 21}], "disease": [{"text": "Ferro-Cerebro-Cutaneous syndrome", "start": 34, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGA", "start": 17, "end": 21}, "tail": {"text": "Ferro-Cerebro-Cutaneous syndrome", "start": 34, "end": 66}}]}}, "schema": []}
{"input": "The aim of the study was to analyze the distribution of the follicle-stimulating hormone (FSH) receptor (FSHR) Ala307Thr and Asn680Ser polymorphisms in infertile Brazilian men and evaluate the possible role of these polymorphisms on the serum levels of FSH and in sperm count.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 105, "end": 109}], "disease": [{"text": "infertile", "start": 152, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions.", "output": {"entities": {"gene": [{"text": "FUS", "start": 10, "end": 13}], "disease": [{"text": "juvenile amyotrophic lateral sclerosis", "start": 42, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FUS", "start": 10, "end": 13}, "tail": {"text": "juvenile amyotrophic lateral sclerosis", "start": 42, "end": 80}}]}}, "schema": []}
{"input": "Relative levels of transcripts for tumour necrosis factor (TNF)-alpha and IL-4 also decreased with regression of lesions, although they were similar to or lower than the corresponding levels in healthy individuals.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 74, "end": 78}], "disease": [{"text": "regression", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Top canonical pathways up-regulated in nasal brushings from patients with GPA included granulocyte adhesion and diapedesis (P = 8. 6 (-22)), agranulocyte adhesion and diapedesis (P = 1. 3 (-14)), IL10 signaling (P = 3. 0 (-11)), LXR/RXR activation (P = 4. 3 (-11)), and TREM1 signaling (P = 9. 0 (-11)).", "output": {"entities": {"gene": [{"text": "TREM1", "start": 270, "end": 275}], "disease": [{"text": "adhesion", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Ewing sarcoma (ES) and peripheral primitive neuroectodermal tumors (PNETs) are associated with a chromosomal translocation resulting in a fusion of the amino-terminus of EWS with the DNA-binding domain of an ETS transcription factor (most commonly FLI1 or ERG).", "output": {"entities": {"gene": [{"text": "EWS", "start": 170, "end": 173}], "disease": [{"text": "chromosomal translocation", "start": 97, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Pioglitazone improved adiponectin levels significantly (P = 0. 0001), and resulted in the further significant enlargement of adipocytes (P = 0. 05), without effect on the percentage CD14 +/CD16 + or ATM number.", "output": {"entities": {"gene": [{"text": "ATM", "start": 199, "end": 202}], "disease": [{"text": "enlargement", "start": 110, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Fifty-six consecutive sporadic colorectal tumors were analyzed for their p53 status.", "output": {"entities": {"gene": [{"text": "p53", "start": 73, "end": 76}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Eighty-three Jordanian recurrent aphthous stomatitis patients and 83 age, gender and ethnically matched controls were genotyped for three NOS2 single-nucleotide polymorphisms, rs10459953, rs1060822 and rs2297518.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 138, "end": 142}], "disease": [{"text": "recurrent aphthous stomatitis", "start": 23, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that AAV may be a useful vector for genetic therapy of sickle cell disease and other hematopoietic disorders.", "output": {"entities": {"gene": [{"text": "AAV", "start": 25, "end": 28}], "disease": [{"text": "sickle cell disease", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Whether the HMW-MAA-specific mAb can be used as carriers of toxins or chemotherapeutic agents against 11q23-acute leukemia remains to be determined.", "output": {"entities": {"gene": [{"text": "HMW-MAA", "start": 12, "end": 19}], "disease": [{"text": "acute leukemia", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "CRP was associated with many other cardiovascular risk factors, particularly markers of obesity and insulin resistance, markers of inflammation and acute phase reaction, and hormone replacement therapy.", "output": {"entities": {"gene": [{"text": "CRP", "start": 0, "end": 3}], "disease": [{"text": "insulin resistance", "start": 100, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The same somatic mutation was found in the Brenner tumor, together with a novel missense CYLD mutation (D889N), which has never been reported in the literature.", "output": {"entities": {"gene": [{"text": "CYLD", "start": 89, "end": 93}], "disease": [{"text": "somatic mutation", "start": 9, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of MMR genes in the tumorigenesis of prostate cancer, we evaluated the expression of these genes in human cancer cell lines and in tumor specimens.", "output": {"entities": {"gene": [{"text": "MMR", "start": 25, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, silencing of tensin-3 was associated with enrichment of H4K20me3 immediately upstream of the tensin-3 transcription start site, suggesting that the loss of H4K20me3 in tumor cells induced the expression of cancer-promoting genes.", "output": {"entities": {"gene": [{"text": "tensin", "start": 26, "end": 32}], "disease": [{"text": "cancer", "start": 219, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Four family members (S100A2, S100A4, S100A6 and S100A10) demonstrated evidence of upregulated expression in multiple medulloblastoma cell lines, following treatment with the DNA methyltransferase inhibitor, 5'-aza-2'-deoxycytidine.", "output": {"entities": {"gene": [{"text": "S100A4", "start": 29, "end": 35}], "disease": [{"text": "medulloblastoma", "start": 117, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A4", "start": 29, "end": 35}, "tail": {"text": "medulloblastoma", "start": 117, "end": 132}}]}}, "schema": []}
{"input": "Indeed, recent evidence suggests that targeting PAR-2 helps reduce joint swelling observed in animal models of arthritis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 48, "end": 51}], "disease": [{"text": "arthritis", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Both HUVEC proliferation and tube formation were strongly enhanced by coculture with metastatic pancreatic cancer cells and were enhanced to a similar extent by culture in the presence of IL-1alpha and IL-8.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 202, "end": 206}], "disease": [{"text": "metastatic pancreatic cancer", "start": 85, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Consistent with its profile of metabolic actions, an association has been reported between a single nucleotide polymorphism (SNP) in the 3' untranslated region of the IGF2 gene (ApaI) and body mass index.", "output": {"entities": {"gene": [{"text": "IGF2 gene", "start": 167, "end": 176}], "disease": [{"text": "body mass index", "start": 188, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Baseline airway inflammation of intrinsic and extrinsic asthma is characterized by eosinophilic inflammation and the Th1 cytokine, IFN-gamma.", "output": {"entities": {"gene": [{"text": "Th1", "start": 117, "end": 120}], "disease": [{"text": "inflammation", "start": 16, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Supplementation with the antioxidant tempol lowered oxidative stress in STZ-treated rats, led to normalization of PKC activity, and prevented GRK2 translocation.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 142, "end": 146}], "disease": [{"text": "translocation", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We characterized high-grade serous ovarian carcinoma (HGSC) for the association of amplified and overexpressed genes with clinical outcome using gene expression data from 499 HGSC patients in the Ovarian Tumor Tissue Analysis cohort for 11 copy number amplified genes: ATP13A4, BMP8B, CACNA1C, CCNE1, DYRK1B, GAB2, PAK4, RAD21, TPX2, ZFP36, and URI.", "output": {"entities": {"gene": [{"text": "ZFP36", "start": 334, "end": 339}], "disease": [{"text": "ovarian carcinoma", "start": 35, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Thus, data show that M1-polarized microglial cells can engulf glioma cells via a DAP12-mediated Siglec-h dependent mechanism.", "output": {"entities": {"gene": [{"text": "DAP12", "start": 81, "end": 86}], "disease": [{"text": "glioma", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "An overview of the patency and stroke rates following thrombolysis with streptokinase, alteplase, and anistreplase used to treat an acute myocardial infarction.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 87, "end": 96}], "disease": [{"text": "myocardial infarction", "start": 138, "end": 159}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alteplase", "start": 87, "end": 96}, "tail": {"text": "myocardial infarction", "start": 138, "end": 159}}]}}, "schema": []}
{"input": "Overexpression of CYP2A6 in human colorectal tumors.", "output": {"entities": {"gene": [{"text": "CYP2A6", "start": 18, "end": 24}], "disease": [{"text": "colorectal tumors", "start": 34, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2A6", "start": 18, "end": 24}, "tail": {"text": "colorectal tumors", "start": 34, "end": 51}}]}}, "schema": []}
{"input": "Recent studies have identified a subgroup of undifferentiated soft tissue sarcomas with primitive round to plump spindle cell morphology and a t (4; 19) (q35; q13. 1) translocation resulting in the expression of a CIC-DUX4 fusion transcript, including 2 tumors previously reported by our laboratory (Cancer Genet Cytogenet 2009; 195: 1).", "output": {"entities": {"gene": [{"text": "DUX4", "start": 218, "end": 222}], "disease": [{"text": "translocation", "start": 167, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "To study the kinetics of plasma viraemia and HIV-infected lymph-node cells in stable asymptomatic HIV infection with high CD4 + T-cell counts.", "output": {"entities": {"gene": [{"text": "CD4", "start": 122, "end": 125}], "disease": [{"text": "viraemia", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Human Serum Cholinesterase activity and polymorphism at its two gene loci, CHE1 and CHE2, were compared in maternal serum from neural tube defect pregnancies, normal pregnancies and a non-pregnant control group.", "output": {"entities": {"gene": [{"text": "CHE1", "start": 75, "end": 79}], "disease": [{"text": "neural tube defect", "start": 127, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Essential for high molecular weight complex formation is the nervy homology region 2 (NHR2) within ETO, which serves as interacting surface for oligomerization as well as association with members of the ETO protein family.", "output": {"entities": {"gene": [{"text": "ETO", "start": 99, "end": 102}], "disease": [{"text": "nervy", "start": 61, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Furthermore we demonstrate the presence of the pro-apoptotic K (+) channel, Kv2. 1, in both human medulloblastoma tissue and DAOY cells.", "output": {"entities": {"gene": [{"text": "Kv2. 1", "start": 76, "end": 82}], "disease": [{"text": "medulloblastoma", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Elimination of CNP occurs mainly by neutral endopeptidase (NEP) and NPR-C. We established a rat model of unilateral ureteral obstruction (UUO) to examine the continuous change of the CNP expression and to assess the correlations of NPR-B, NPR-C, NEP with CNP in the obstructed kidneys.", "output": {"entities": {"gene": [{"text": "CNP", "start": 15, "end": 18}], "disease": [{"text": "ureteral obstruction", "start": 116, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "BMP4 expression is high in retinal pigment epithelium (RPE) cells in late, dry AMD patients, while BMP4 expression is low in the wet form of the disease, characterized by choroidal neovascularization (CNV).", "output": {"entities": {"gene": [{"text": "RPE", "start": 55, "end": 58}], "disease": [{"text": "choroidal neovascularization", "start": 171, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Best' s vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 81, "end": 85}], "disease": [{"text": "Best' s vitelliform macular dystrophy", "start": 0, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 81, "end": 85}, "tail": {"text": "Best' s vitelliform macular dystrophy", "start": 0, "end": 37}}]}}, "schema": []}
{"input": "The status of p53 was investigated in breast tumours arising in germ-line carriers of mutant alleles of BRCA1 and BRCA2 and in a control series of sporadic breast tumours.", "output": {"entities": {"gene": [{"text": "p53", "start": 14, "end": 17}], "disease": [{"text": "sporadic", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 32, "end": 44}], "disease": [{"text": "ovarian hyperstimulation syndrome", "start": 84, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FSH receptor", "start": 32, "end": 44}, "tail": {"text": "ovarian hyperstimulation syndrome", "start": 84, "end": 117}}]}}, "schema": []}
{"input": "Study of DNA topoisomerase II in ataxia-telangiectasia cells.", "output": {"entities": {"gene": [{"text": "DNA topoisomerase II", "start": 9, "end": 29}], "disease": [{"text": "telangiectasia", "start": 40, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We determined the effect of PP2A inhibition by genetic (PPP2R1A siRNA) and pharmacologic (LB100, a small molecule entering phase I clinical trials) approaches on radiosensitization of Panc-1 and MiaPaCa-2 pancreatic cancer cells both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "PPP2R1A", "start": 56, "end": 63}], "disease": [{"text": "pancreatic cancer", "start": 205, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Examination of sputum provides a direct method to investigate airway inflammation non-invasively in particular Th1 (IL-2, IFN-gamma) and Th2 (IL-4, IL-10) cytokine production.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 116, "end": 120}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.", "output": {"entities": {"gene": [{"text": "CASQ1", "start": 68, "end": 73}], "disease": [{"text": "tubular aggregate myopathy", "start": 101, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASQ1", "start": 68, "end": 73}, "tail": {"text": "tubular aggregate myopathy", "start": 101, "end": 127}}]}}, "schema": []}
{"input": "The present study, therefore, sought to clarify the expression of PTHrP, parathyroid hormone (PTH) and PTH1R in ameloblastoma, using RT-PCR (N = 8), immunohistochemistry (N = 23) and ELISA (N = 11) techniques.", "output": {"entities": {"gene": [{"text": "PTH1R", "start": 103, "end": 108}], "disease": [{"text": "ameloblastoma", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "IHC studies also showed the decreased TBP-2 immunoreactivity in patients with endometriosis compared with the control group.", "output": {"entities": {"gene": [{"text": "TBP", "start": 38, "end": 41}], "disease": [{"text": "endometriosis", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that common variants in JAG1, HES1, NOTCH3 and ADAM10 are not strongly associated with diabetic nephropathy in type 1 diabetes among white individuals.", "output": {"entities": {"gene": [{"text": "HES1", "start": 50, "end": 54}], "disease": [{"text": "diabetic nephropathy", "start": 107, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Only trace amounts of AID transcripts were detected in the normal liver; however, endogenous AID was significantly upregulated in both HCC and surrounding noncancerous liver tissues with underlying chronic hepatitis or liver cirrhosis (p < 0. 05).", "output": {"entities": {"gene": [{"text": "HCC", "start": 135, "end": 138}], "disease": [{"text": "chronic hepatitis", "start": 198, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Neuropeptide Y (NPY) is a 36 amino acid peptide which was shown to enhance memory retention, recall and prevent amnesia induced by either scopolamine or anisomycin.", "output": {"entities": {"gene": [{"text": "NPY", "start": 16, "end": 19}], "disease": [{"text": "amnesia", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Demographic and clinical characteristics of the cases (age at the study period, body weight, mean dose and plasma concentration of valproate acid (VPA)/clobazam (CLB) off and on STP, mean plasma concentration of norclobazam (N-CLB) off and on STP, degree of seizure reduction, and adverse effects of STP) were examined with each CYP2C19 polymorphism.", "output": {"entities": {"gene": [{"text": "STP", "start": 178, "end": 181}], "disease": [{"text": "body weight", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 62, "end": 66}], "disease": [{"text": "CF", "start": 62, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 62, "end": 66}, "tail": {"text": "CF", "start": 62, "end": 64}}]}}, "schema": []}
{"input": "We obtained blood samples for measurement of serum and red blood cell folate, plasma homocysteine, and MTHFR 677C > T genotype and colonic tissue biopsies for measurement of colonic tissue folate and DNA methylation (genomic-and gene-specific, estrogen receptor 1, ESR1; myoblast determination protein 1, MYOD1; insulin-like growth factor II, IGF2; tumor suppressor candidate 33, N33; adenomatous polyposis coli, APC; mut-L homolog 1, MLH1; and O (6)-methylguanine-DNA methyltransferase, MGMT) by liquid chromatography/electrospray ionization mass spectrometry and pyrosequencing, respectively.", "output": {"entities": {"gene": [{"text": "myoblast determination protein 1", "start": 271, "end": 303}], "disease": [{"text": "adenomatous polyposis coli", "start": 385, "end": 411}]}, "relations": {}}, "schema": []}
{"input": "Higher levels of activated CD4 (+) HLA-DR (+) and early differentiated CD4 (+) CD45RA (-) CD28 (+) cells predicted increased risk of subsequent detectable viremia in patients with undetectable HIV RNA (P <. 05).", "output": {"entities": {"gene": [{"text": "CD4", "start": 27, "end": 30}], "disease": [{"text": "viremia", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 57, "end": 62}], "disease": [{"text": "SFD", "start": 164, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIMP3", "start": 57, "end": 62}, "tail": {"text": "SFD", "start": 164, "end": 167}}]}}, "schema": []}
{"input": "One BRCA1 and one BRCA2 truncating mutation each was identified in the group of 32 (6%) early-onset breast cancer patients (& lt; or = 35 years).", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 4, "end": 9}], "disease": [{"text": "breast cancer", "start": 100, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 4, "end": 9}, "tail": {"text": "breast cancer", "start": 100, "end": 113}}]}}, "schema": []}
{"input": "We studied the-930A/G polymorphism of the CYBA gene promoter, the apolipoprotein E (APOE) genotype and the methylene-tetrahydrofolate reductase (MTHFR) gene C677T polymorphism in 134 healthy pregnant women, 266 pregnant with non-proteinuric hypertension (NPH) and 184 patients with preeclampsia (PE).", "output": {"entities": {"gene": [{"text": "CYBA gene", "start": 42, "end": 51}], "disease": [{"text": "preeclampsia", "start": 282, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "Both dynorphin (1-13) and Leu-enkephalin administered s. c. to normal and morphine-tolerant rats, 30 min before blood vessel cannulation and testing, lowered the morphine ED50 for bradycardia.", "output": {"entities": {"gene": [{"text": "Leu-enkephalin", "start": 26, "end": 40}], "disease": [{"text": "bradycardia", "start": 180, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Leu-enkephalin", "start": 26, "end": 40}, "tail": {"text": "bradycardia", "start": 180, "end": 191}}]}}, "schema": []}
{"input": "DNA hypermethylation of RASSF1A, APC, cytoglobin, 3OST2, PRDM14, FAM19A4 and PHACTR3 was analysed in sputum samples from symptomatic lung cancer patients and controls (learning set: 73 cases, 86 controls; validation set: 159 cases, 154 controls) by quantitative methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "FAM19A4", "start": 65, "end": 72}], "disease": [{"text": "lung cancer", "start": 133, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Our studies suggest that: (i) p21 deficiency might provide a selective pressure for the emergence of apoptosis-resistant progeny exhibiting genomic instability, manifested as spontaneous γH2AX foci coupled with phosphorylation and nuclear accumulation of p53; and (ii) p21 might contribute to positive regulation of WIP1, resulting in dephosphorylation of γH2AX.", "output": {"entities": {"gene": [{"text": "p21", "start": 30, "end": 33}], "disease": [{"text": "genomic instability", "start": 140, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).", "output": {"entities": {"gene": [{"text": "KAT8", "start": 131, "end": 135}], "disease": [{"text": "schizophrenia", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KAT8", "start": 131, "end": 135}, "tail": {"text": "schizophrenia", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "In laboratory models, downstream post-transcriptional modifiers such as TWIST and SNAIL contribute to the dissociation of the intracellular component of the cadherin-catenin complex (CCC), resulting in tumor progression and invasion.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 72, "end": 77}], "disease": [{"text": "dissociation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In contrast, patients with the TTC/TTC, TTC/CGT, TTC/TGT, CGT/CGT and TGT/CGT haplotype combinations were more likely to be seizure-free (all p-values < 0. 0001 except CGT/CGT [p = 0. 0063]).", "output": {"entities": {"gene": [{"text": "CGT", "start": 44, "end": 47}], "disease": [{"text": "all", "start": 138, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Loss of p38δ mitogen-activated protein kinase expression promotes oesophageal squamous cell carcinoma proliferation, migration and anchorage-independent growth.", "output": {"entities": {"gene": [{"text": "p38δ", "start": 8, "end": 12}], "disease": [{"text": "squamous cell carcinoma", "start": 78, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate clearly that the CIPA mutations cause the inactivation of the NTRK1 receptor, thus exerting a loss of function effect, and provide an experimental approach to distinguish functional mutations from genetic polymorphisms.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 86, "end": 91}], "disease": [{"text": "CIPA", "start": 41, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTRK1", "start": 86, "end": 91}, "tail": {"text": "CIPA", "start": 41, "end": 45}}]}}, "schema": []}
{"input": "In this study, to investigate the anticancer therapeutic potential of this gene, a secreted isoform of VEGI (VEGI-251) was inserted into a selectively replicating adenovirus with E1B 55 kDa gene deletion (ZD55) to construct ZD55-VEGI-251.", "output": {"entities": {"gene": [{"text": "VEGI", "start": 103, "end": 107}], "disease": [{"text": "adenovirus", "start": 163, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In the whole cohort and in women, univariate correlations between IL-6 concentrations and the parameters under evaluation showed that IL-6 and leptin were positively correlated with age, BMI, waist, systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting glucose, fasting insulin, Delta AUC insulin area, triglyceride (TG), free fatty acids (FFA) and monocyte chemoattractant protein-1 (MCP-1) and inversely correlated with HDL cholesterol (HDL-C) and adiponectin.", "output": {"entities": {"gene": [{"text": "DBP", "start": 256, "end": 259}], "disease": [{"text": "systolic blood pressure", "start": 199, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Administration of the lysyl oxidase inhibitor β-aminopropionitrile attenuated the effect of hypoxia, limiting perturbations to right ventricular systolic pressure, right ventricular hypertrophy, and vessel muscularization and normalizing collagen cross-linking and vessel matrix architecture.", "output": {"entities": {"gene": [{"text": "lysyl oxidase", "start": 22, "end": 35}], "disease": [{"text": "hypoxia", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In addition, seven of seven cases with balanced EGFR/HER2 polysomy and two of three cases with balanced EGFR/HER2 trisomy responded to gefitinib (75% of responders).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 48, "end": 52}], "disease": [{"text": "trisomy", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "By using immunohistochemistry, NPM overexpression was detected in papillary, follicular, undifferentiated thyroid cancer, and also in follicular benign adenomas, indicating it as an early event during thyroid tumorigenesis.", "output": {"entities": {"gene": [{"text": "NPM", "start": 31, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 209, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "METHOD OF STUDY The expression of CD80 and CD86 in decidual tissues and CD28 and cytotoxic T-lymphocyte antigen-4 (CTLA-4) in the decidual T cells was compared between normal early pregnancy and miscarriage by qPCR and Western blot.", "output": {"entities": {"gene": [{"text": "CD28", "start": 72, "end": 76}], "disease": [{"text": "miscarriage", "start": 195, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "This review briefly summarizes the current information on the pRb1-cyclin D1-cdk4/6-p16 (INK4A) alterations in sporadic uterine cancer, placing emphasis on the influence on the dualistic model of endometrial carcinogenesis.", "output": {"entities": {"gene": [{"text": "pRb1", "start": 62, "end": 66}], "disease": [{"text": "uterine cancer", "start": 120, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated a mechanism that may regulate the expression of Ets-1 in vascular endothelial growth factor (VEGF)-and hypoxia-induced retinal neovascularization and that may have potential to inhibit ocular neovascular diseases.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 70, "end": 75}], "disease": [{"text": "hypoxia", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.", "output": {"entities": {"gene": [{"text": "mitochondrial seryl-tRNA synthetase", "start": 17, "end": 52}], "disease": [{"text": "HUPRA syndrome", "start": 138, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "mitochondrial seryl-tRNA synthetase", "start": 17, "end": 52}, "tail": {"text": "HUPRA syndrome", "start": 138, "end": 152}}]}}, "schema": []}
{"input": "The aims of the study were to determine the expression and function of K2P channel subtypes in proliferative and secretory phase endometrium obtained from normo-ovulatory women and in an endometrial cancer cell line.", "output": {"entities": {"gene": [{"text": "K2P", "start": 71, "end": 74}], "disease": [{"text": "endometrial cancer", "start": 187, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "p53 mutations occur frequently in sporadic lymphoma, and, in mice deficient for p53, lymphoma is the most common type of malignancy.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Treatment with LDL promoted activation and translocation of endogenous sphingosine kinase 1 (SK1) from the cytosol to the plasma membrane concomitant with production of sphingosine-1-phosphate (S1P).", "output": {"entities": {"gene": [{"text": "S1P", "start": 194, "end": 197}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "To determine if previous results can also be applied to the Taiwanese, we analyzed 5 Taiwanese probands with clinical features of HME: 1 of them is a sporadic case, and the others are familial cases.", "output": {"entities": {"gene": [{"text": "HME", "start": 130, "end": 133}], "disease": [{"text": "sporadic", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "It was shown that stable transfection of Cyr61 into the AGS cell line strongly enhanced its adhesion ability.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 41, "end": 46}], "disease": [{"text": "adhesion", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Here we narrow the achromatopsia locus to 1. 4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a highly conserved site in CNGB3, a new gene that encodes the beta-subunit of the cone cyclic nucleotide-gated cation channel.", "output": {"entities": {"gene": [{"text": "CNGB3", "start": 156, "end": 161}], "disease": [{"text": "Pingelapese", "start": 64, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CNGB3", "start": 156, "end": 161}, "tail": {"text": "Pingelapese", "start": 64, "end": 75}}]}}, "schema": []}
{"input": "The intermediate conductance calcium-activated potassium channel KCa3. 1 contributes to a variety of cell activation processes in pathologies such as inflammation, carcinogenesis, and vascular remodeling.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 65, "end": 72}], "disease": [{"text": "carcinogenesis", "start": 164, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "In the present report, we describe three new cases of AML associated with FGFR1 abnormalities: AML with minimal differentiation with 45, XY,-7, t (8; 13) (p11. 2; q12), acute myelomonocytic leukemia with eosinophilia with 48, XY, t (8; 9) (p11. 2; q33), + 19, + 21, and AML with minimal differentiation with 46, XX, add (8) (p11. 2).", "output": {"entities": {"gene": [{"text": "p11", "start": 155, "end": 158}], "disease": [{"text": "eosinophilia", "start": 204, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "CL1-R2 reduced fibroblast growth factor 2-induced neovascularization in the rabbit cornea, in a mouse model of oxygen-induced retinopathy, and in a mouse Matrigel plug assay.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor 2", "start": 15, "end": 41}], "disease": [{"text": "neovascularization", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.", "output": {"entities": {"gene": [{"text": "SMAD9", "start": 34, "end": 39}], "disease": [{"text": "Hamartomatous Polyposis", "start": 127, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMAD9", "start": 34, "end": 39}, "tail": {"text": "Hamartomatous Polyposis", "start": 127, "end": 150}}]}}, "schema": []}
{"input": "To determine directly whether this function contributes to humoral autoimmune disease, we examined whether a deficiency in the FcRn heavy chain influences autoimmune arthritis in the K/BxN mouse model.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 132, "end": 143}], "disease": [{"text": "autoimmune arthritis", "start": 155, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In patients with anaplastic astrocytoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma, combination of germ-line GSTP1 * A/* A and GSTM1 null genotype confers a survival advantage.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 147, "end": 152}], "disease": [{"text": "astrocytoma, anaplastic", "start": 28, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c. 652T & #8594; G (p. Cys218Gly).", "output": {"entities": {"gene": [{"text": "WNT1", "start": 124, "end": 128}], "disease": [{"text": "osteoporosis", "start": 60, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT1", "start": 124, "end": 128}, "tail": {"text": "osteoporosis", "start": 60, "end": 72}}]}}, "schema": []}
{"input": "In one patient, hypogammaglobulinaemia with a functional antibody deficiency was identified, while the other patient had a persisting CD4 + T cell lymphopenia (with normal antibody production).", "output": {"entities": {"gene": [{"text": "CD4", "start": 134, "end": 137}], "disease": [{"text": "hypogammaglobulinaemia", "start": 16, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that TAZ plays a role in the migration, invasion, and tumorigenesis of breast cancer cells and thus presents a novel target for the detection and treatment of breast cancer.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 28, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Rats with DCM showed declined systolic myocardial performance associated with myocardial hypertrophy and fibrosis, which were accompanied with metabolism abnormalities, aberrant myocardial enzymes, increased AGEs (advanced glycation end products) accumulation and RAGE (receptor for AGEs) expression, elevated markers of oxidative stress (MDA, SOD, the ratio of NADP (+)/NADPH, Rac1 activity, NADPH oxidase subunits expression of gp91 (phox) and p47 (phox)), raised inflammatory factor (TNF-α and IL-1β), enhanced apoptotic cell death (ratio of bax/bcl-2, caspase-3 activity and TUNEL), diminished Akt and GSK-3β phosphorylation.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 487, "end": 492}], "disease": [{"text": "hypertrophy", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The high-temperature requirement factor A3 (HtrA3) is associated with acquisition of the invasive phenotype in oral squamous cell carcinoma cells.", "output": {"entities": {"gene": [{"text": "HtrA3", "start": 44, "end": 49}], "disease": [{"text": "squamous cell carcinoma", "start": 116, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Staining for the p53 product was positive in 80% of the FGC group and in 38% of the sporadic group (P < 0. 05).", "output": {"entities": {"gene": [{"text": "p53", "start": 17, "end": 20}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Melanocortin-4 receptor gene (MC4R) variants are associated with obesity and binge eating disorder (BED), whereas the more prevalent proopiomelanocortin (POMC) and leptin receptor gene (LEPR) mutations are rarely associated with obesity or BED.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 30, "end": 34}], "disease": [{"text": "binge eating disorder", "start": 77, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The population-based Baltic male cohort (Estonians, Latvians, Lithuanians; n = 1052) and Estonian oligo-/azoospermic (sperm concentration < 20 × 10 (6)/mL) idiopathic infertile patients (n = 738) were genotyped for the FSHR Asn680Ser using PCR-RFLP.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 219, "end": 223}], "disease": [{"text": "infertile", "start": 167, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The correlation between MGMT, Ezrin expression, and the malignant behavior of one normal epithelial esophageal cell line and seven esophageal cancer lines is discussed.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 24, "end": 28}], "disease": [{"text": "esophageal", "start": 100, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.", "output": {"entities": {"gene": [{"text": "Cyp2e1", "start": 48, "end": 54}], "disease": [{"text": "Obese", "start": 0, "end": 5}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cyp2e1", "start": 48, "end": 54}, "tail": {"text": "Obese", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "The functional impact on calcium release of RYR1 mutations linked to central core disease or malignant hyperthermia is different: human myotubes carrying the malignant hyperthermia-linked RYR1 mutation V2168M had a shift in their sensitivity to the RYR agonist 4-chloro-m-cresol to lower concentrations, whereas human myotubes harboring C-terminal mutations linked to central core disease exhibited reduced [Ca2 +] i increase in response to 4-chloro-m-cresol, caffeine, and KCl.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 408, "end": 411}], "disease": [{"text": "malignant hyperthermia", "start": 93, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women.", "output": {"entities": {"gene": [{"text": "TWIST1 gene", "start": 15, "end": 26}], "disease": [{"text": "bone mineral density", "start": 46, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation.", "output": {"entities": {"gene": [{"text": "TRKA", "start": 59, "end": 63}], "disease": [{"text": "congenital insensitivity to pain with anhidrosis", "start": 100, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRKA", "start": 59, "end": 63}, "tail": {"text": "congenital insensitivity to pain with anhidrosis", "start": 100, "end": 148}}]}}, "schema": []}
{"input": "In this case-control study of 1091 Caucasian lung cancer patients and 1240 controls, we explored the gene-environment interactions between the XRCC1 Arg399Gln polymorphism, alone or in combination with the two ERCC2 polymorphisms, and cumulative smoking exposure in the development of lung cancer.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 143, "end": 148}], "disease": [{"text": "smoking", "start": 246, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "In MCF-7 tumors treated with E2, tumor incidence, mean weight of tumors, 3H-thymidine labelling index, differentiation antigen HMFGM (human milk-fat globule membrane) and ras p21, c-myc, neu oncogene products, the level was significantly increased.", "output": {"entities": {"gene": [{"text": "p21", "start": 175, "end": 178}], "disease": [{"text": "weight", "start": 55, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Functional inactivation by hypermethylation of the p16 locus and p53 mutations could play a significant, complementary role in the pathogenesis of sporadic gastric cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 65, "end": 68}], "disease": [{"text": "sporadic", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Increased migration of metastatic prostate cancer cells to fibronectin and bone sialoprotein was regulated by VEGF via VEGFR-2.", "output": {"entities": {"gene": [{"text": "bone sialoprotein", "start": 75, "end": 92}], "disease": [{"text": "metastatic prostate cancer", "start": 23, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We describe 27 cases of mild-to-severe α-thalassemia (α-thal) syndrome caused by interaction of Hb Adana [α59 (E8) Gly → Asp, GGC > GAC (α2)] with deletional and nondeletional α (+)-thal mutations in Indonesian patients.", "output": {"entities": {"gene": [{"text": "GGC", "start": 126, "end": 129}], "disease": [{"text": "mild", "start": 24, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "METHODS: A systematic Medline search was conducted using several terms related to and including the terms \" androgen receptor, \" \" CAG-repeat polymorphism, \" \" male hypogonadism, \" \" female hypogonadism, \" and \" neurodegenerative disease. \"", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 108, "end": 125}], "disease": [{"text": "female hypogonadism", "start": 183, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated whether the Na (+)/Ca (2 +) exchanger (NCX) inhibitor SEA0400 (2-[4-[(2, 5-difluorophenyl) methoxy] phenoxy-5-ethoxyaniline) might have a protective effect against myocardial ischemia-reperfusion injury in rats.", "output": {"entities": {"gene": [{"text": "NCX", "start": 70, "end": 73}], "disease": [{"text": "myocardial ischemia", "start": 195, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Superior vena cava syndrome and hypercalcaemia in a patient with a primary mediastinal B-cell lymphoma secreting parathyroid hormone-related protein.", "output": {"entities": {"gene": [{"text": "parathyroid hormone-related protein", "start": 113, "end": 148}], "disease": [{"text": "Superior vena cava syndrome", "start": 0, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "parathyroid hormone-related protein", "start": 113, "end": 148}, "tail": {"text": "Superior vena cava syndrome", "start": 0, "end": 27}}]}}, "schema": []}
{"input": "Pearson' s correlation analysis demonstrated that in women, serum RBP4 levels were significantly associated with fasting blood glucose (FBG), HOMA-β, and increment of first phase insulin secretion (1PH), but not associated with age, BMI, waist circumference, WHR, systolic (SBP) and diastolic blood pressure (DBP), TC, TG, HDL-c, LDL-c, 2 h blood glucose, HOMA-IR, ALT, AST, γ-GT, hepatic fat content (HFC), and insulin sensitivity index (ISI).", "output": {"entities": {"gene": [{"text": "AST", "start": 370, "end": 373}], "disease": [{"text": "diastolic blood pressure", "start": 283, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "Recent evidence has demonstrated that metastatic melanoma cell lines have a specific loss of IFN-alpha gene expression, a defect that appears to occur at the level of transcription.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 97, "end": 107}], "disease": [{"text": "metastatic melanoma", "start": 38, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The role of TP53 mutations in the tumorigenesis of sporadic medulloblastoma (MB) and the value of TP53 mutation status as a prognostic marker are not yet definitely elucidated.", "output": {"entities": {"gene": [{"text": "TP53", "start": 12, "end": 16}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "CCL2 may be involved in MM pathobiology by tumor growth suppression.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 0, "end": 4}], "disease": [{"text": "MM", "start": 24, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCL2", "start": 0, "end": 4}, "tail": {"text": "MM", "start": 24, "end": 26}}]}}, "schema": []}
{"input": "Thus, our data suggest that altered SIRT1, 2 and 6 expression is state-dependent and might be associated with the pathogenesis and/or pathophysiology of mood disorders.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 36, "end": 41}], "disease": [{"text": "mood disorders", "start": 153, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT1", "start": 36, "end": 41}, "tail": {"text": "mood disorders", "start": 153, "end": 167}}]}}, "schema": []}
{"input": "We analyzed the incidence of KRAS, BRAF and PIK3CA mutations, microsatellite instability (MSI) status and loss of the DNA repair proteins MLH1, MSH2, MSH6 and MGMT in a series of 89 SAC, 81 matched conventional carcinomas (CC) and 13 sporadic colorectal cancer showing histological and molecular features of high-level MSI (sMSI-H).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 144, "end": 148}], "disease": [{"text": "sporadic", "start": 234, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Progress from adhesion to detachment of EC9706 cells causes DR5 relocalization, and promotes cytoplasmic translocation of DR5 to cell surfaces via a Golgi-dependent pathway.", "output": {"entities": {"gene": [{"text": "DR5", "start": 60, "end": 63}], "disease": [{"text": "translocation", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In this boy, a mutation Ile537Thr (c. 1610C > T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected.", "output": {"entities": {"gene": [{"text": "p63", "start": 104, "end": 107}], "disease": [{"text": "sterile", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Karyotyping and fluorescence in situ hybridization analysis of the female fetus revealed an unbalanced subtelomeric translocation (karyotype 46, XX, der (18) t (7; 18) (p22. 3; p11. 32) mat resulting in a partial trisomy 7p and a partial monosomy 18p. Array comparative genomic hybridization (CGH) detected a4. 44-Mb heterozygous duplication at 7p22. 3 to 7p22. 1 and a0. 178-Mb heterozygous deletion at 18p11. 32.", "output": {"entities": {"gene": [{"text": "p22", "start": 169, "end": 172}], "disease": [{"text": "partial trisomy", "start": 205, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Increased citrullination of histone H3 in multiple sclerosis brain and animal models of demyelination: a role for tumor necrosis factor-induced peptidylarginine deiminase 4 translocation.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 114, "end": 135}], "disease": [{"text": "translocation", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Pathological section and magnetic resonance imaging (MRI) analyses demonstrated a positive correlation between the development of pulmonary cancer and hVEGF expression levels, which were determined by immunohistochemistry, qRT-PCR, and western blot analyses.", "output": {"entities": {"gene": [{"text": "MRI", "start": 53, "end": 56}], "disease": [{"text": "pulmonary cancer", "start": 130, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Therefore, combined treatment with fenretinide and TRAIL might be a promising model for the treatment of colorectal cancer.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 51, "end": 56}], "disease": [{"text": "colorectal cancer", "start": 105, "end": 122}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRAIL", "start": 51, "end": 56}, "tail": {"text": "colorectal cancer", "start": 105, "end": 122}}]}}, "schema": []}
{"input": "However, SRC-1, SRC-2, and SRC-3 levels were each significantly higher in SMC compared to MEC from both myometrial and fibroid samples, although for SRC-3 there was a trend for higher levels in myometrial samples that did not reach significance.", "output": {"entities": {"gene": [{"text": "SMC", "start": 74, "end": 77}], "disease": [{"text": "fibroid", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Our results characterize two genes associated with PCD-causing mutations and elucidate two distinct mechanisms critical for motile cilia function: dynein arm assembly for C21orf59 and assembly of the nexin-dynein regulatory complex for CCDC65.", "output": {"entities": {"gene": [{"text": "CCDC65", "start": 236, "end": 242}], "disease": [{"text": "PCD", "start": 51, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC65", "start": 236, "end": 242}, "tail": {"text": "PCD", "start": 51, "end": 54}}]}}, "schema": []}
{"input": "Deficits in KCC2 functional expression thus play central roles in the etiology of epilepsy and ischemia.", "output": {"entities": {"gene": [{"text": "KCC2", "start": 12, "end": 16}], "disease": [{"text": "ischemia", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In this study we describe the role of miR-126 in bladder cancer progression, identifying miR-126 and ADAM9 as potential clinical biomarkers of disease aggressiveness.", "output": {"entities": {"gene": [{"text": "ADAM9", "start": 101, "end": 106}], "disease": [{"text": "aggressiveness", "start": 151, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "CTGF mRNA expression levels in hyperplastic lungs after TL, hypoplastic lungs and CDH after nitrofen administration, and fetal controls at E21 were analyzed with real-time polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "CTGF", "start": 0, "end": 4}], "disease": [{"text": "CDH", "start": 82, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTGF", "start": 0, "end": 4}, "tail": {"text": "CDH", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "Metabolic syndrome was defined as the presence of three or more of the following criteria: fasting glucose levels ≥ 100 mg/dL, triglycerides ≥ 150 mg/dL, HDL-cholesterol < 40 mg/dL, obesity BMI ≥ 95th percentile, systolic blood pressure (SBP) and diastolic blood pressure (DBP) ≥ 95th percentile and insulin resistance HOMA-IR ≥ 2. 4.", "output": {"entities": {"gene": [{"text": "DBP", "start": 273, "end": 276}], "disease": [{"text": "systolic blood pressure", "start": 213, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that such mutations occur rarely in gastric cancers and that only a small fraction of BID mutations may lead to the loss of its apoptotic function.", "output": {"entities": {"gene": [{"text": "BID", "start": 103, "end": 106}], "disease": [{"text": "gastric cancers", "start": 53, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BID", "start": 103, "end": 106}, "tail": {"text": "gastric cancers", "start": 53, "end": 68}}]}}, "schema": []}
{"input": "There were no significant differences in HLA-G levels between patients with and without obstetric events, arterial thrombosis, venous thrombosis, or stroke.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 41, "end": 46}], "disease": [{"text": "venous thrombosis", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The logistic regression analysis showed significant effects of the TNF-alpha and IL-8 gene polymorphisms, beta (S)-globin gene haplotypes and α2-thal3. 7 kb on the occurrence of splenic sequestration events.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 67, "end": 76}], "disease": [{"text": "splenic sequestration", "start": 178, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "TLR2 and TLR4 mediate differential responses to limb ischemia through MyD88-dependent and independent pathways.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 0, "end": 4}], "disease": [{"text": "ischemia", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The following specific outcome measurements were analyzed: 1) hearing loss phenotype, 2) laterality of EVA and hearing loss, 3) midpoint and operculum vestibular aqueduct measurements, and 4) genetic test results.", "output": {"entities": {"gene": [{"text": "EVA", "start": 103, "end": 106}], "disease": [{"text": "laterality", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "To further analyze the consequences of hypoxic upregulation on stem cell proliferation and HIF1α signaling, CSC subpopulations from murine TRAMP-C1 cells (Sca-1 (+)/CD49f (+)) as well as from a human prostate cancer cell line (CD44 (+)/CD49f (+)) were isolated and characterized.", "output": {"entities": {"gene": [{"text": "CD44", "start": 227, "end": 231}], "disease": [{"text": "hypoxic", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The positive rate of IL-2, interferon (IFN)-gamma, and IL-15 expression showed no difference among the groups divided by clinical, endoscopic, and histological grade of inflammation.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 21, "end": 25}], "disease": [{"text": "inflammation", "start": 169, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 93, "end": 99}], "disease": [{"text": "hyperplasia", "start": 36, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3CA", "start": 93, "end": 99}, "tail": {"text": "hyperplasia", "start": 36, "end": 47}}]}}, "schema": []}
{"input": "Therefore, the Kv1. 3 channel represents a candidate gene for type 2 diabetes.", "output": {"entities": {"gene": [{"text": "Kv1. 3", "start": 15, "end": 21}], "disease": [{"text": "type 2 diabetes", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "It has been shown previously that ADVIRC results from BEST1 mutations that cause exon skipping and lead to the production of shortened and internally deleted isoforms.", "output": {"entities": {"gene": [{"text": "BEST1", "start": 54, "end": 59}], "disease": [{"text": "ADVIRC", "start": 34, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BEST1", "start": 54, "end": 59}, "tail": {"text": "ADVIRC", "start": 34, "end": 40}}]}}, "schema": []}
{"input": "We hypothesized that polymorphisms of the SNAP-25 gene (sites DdeI, MnlI and TaiI in the 3' UTR) are associated with antipsychotic drug response and induced weight gain.", "output": {"entities": {"gene": [{"text": "SNAP-25", "start": 42, "end": 49}], "disease": [{"text": "weight gain", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness.", "output": {"entities": {"gene": [{"text": "FOXO1A", "start": 28, "end": 34}], "disease": [{"text": "aggressiveness", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Treatment with 1, 25D3 to streptozotocin-induced diabetic rats did not correct the hyperglycemia, hypoinsulinemia, glycosuria or ketonemia induced by the diabetes, although it partially reversed the over-expression of the insulin receptor gene in the liver and adipose tissue, without altering the normal expression of this gene in the kidney.", "output": {"entities": {"gene": [{"text": "insulin receptor gene", "start": 222, "end": 243}], "disease": [{"text": "glycosuria", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS in that full foveal function and retinal laminar structure are maintained, and certain rod responses are present.", "output": {"entities": {"gene": [{"text": "NR2E3", "start": 61, "end": 66}], "disease": [{"text": "ESCS", "start": 121, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR2E3", "start": 61, "end": 66}, "tail": {"text": "ESCS", "start": 121, "end": 125}}]}}, "schema": []}
{"input": "We therefore hypothesized that EphB4/ephrinB2 interactions may be involved in the preferential adhesion of EphB4-expressing tumor cells to ephrinB2-expressing endothelial cells.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 31, "end": 36}], "disease": [{"text": "adhesion", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The antibody titer against AnxA2 may be a potentially useful new diagnostic surrogate marker for asbestos-related lung cancer and malignant mesothelioma.", "output": {"entities": {"gene": [{"text": "AnxA2", "start": 27, "end": 32}], "disease": [{"text": "malignant mesothelioma", "start": 130, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AnxA2", "start": 27, "end": 32}, "tail": {"text": "malignant mesothelioma", "start": 130, "end": 152}}]}}, "schema": []}
{"input": "Although pretreatment with IM enhanced increases in tissue levels of MPO, TNF, and TNF mRNA and exacerbated both motor disturbances and histological damage in the spinal cord of animals subjected to SCI, pretreatment with NS-398 had no effect on any of these findings.", "output": {"entities": {"gene": [{"text": "TNF", "start": 74, "end": 77}], "disease": [{"text": "motor disturbances", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "These specific haplotypes were selected from our earlier work to include one haplotype bearing a short DQCAR allele (celiac disease and DR3, DQ2-DQCAR99) and two haplotypes bearing long DQCAR alleles (Diabetes Mellitus and DR4, DQ4-DQCAR 113 or 115 Idiopathic Nephrotic syndrome and DR7, DQ2-DQCAR 111-121).", "output": {"entities": {"gene": [{"text": "DR4", "start": 223, "end": 226}], "disease": [{"text": "celiac disease", "start": 117, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that SK1 is overexpressed in 786-0 renal carcinoma cells lacking functional VHL, with concomitant high S1P levels that appear to be HIF-2α mediated.", "output": {"entities": {"gene": [{"text": "SK1", "start": 26, "end": 29}], "disease": [{"text": "renal carcinoma", "start": 56, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Hyperalgesia induced by both PLA (2) s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B (2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (IL-1).", "output": {"entities": {"gene": [{"text": "IL-1", "start": 278, "end": 282}], "disease": [{"text": "Hyperalgesia", "start": 0, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1", "start": 278, "end": 282}, "tail": {"text": "Hyperalgesia", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "Similar results were obtained in rat PFC slices pretreated with the beta-amyloid peptide (Abeta).", "output": {"entities": {"gene": [{"text": "PFC", "start": 37, "end": 40}], "disease": [{"text": "amyloid", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Orai1-deficient patients suffer from severe immunodeficiency, congenital myopathy, chronic pulmonary disease, anhydrotic ectodermal dysplasia and defective dental enamel calcification.", "output": {"entities": {"gene": [{"text": "Orai1", "start": 0, "end": 5}], "disease": [{"text": "congenital myopathy", "start": 62, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "However, it remains unknown how cyclin E-mediated replication stress promotes genomic instability during carcinogenesis.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 32, "end": 40}], "disease": [{"text": "genomic instability", "start": 78, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Expression of elastin, decorin, lumican and the extracellular matrix remodeling factor TIMP3 were reduced in facioscapulohumeral muscular dystrophy myoblasts.", "output": {"entities": {"gene": [{"text": "decorin", "start": 23, "end": 30}], "disease": [{"text": "facioscapulohumeral muscular dystrophy", "start": 109, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "decorin", "start": 23, "end": 30}, "tail": {"text": "facioscapulohumeral muscular dystrophy", "start": 109, "end": 147}}]}}, "schema": []}
{"input": "Unexpectedly, a subset of diffuse large B-cell lymphoma expressed PRDM1, lacked detectable plasmablastic or immunoblastic changes and displayed more aggressive behavior, with a shorter failure-free survival.", "output": {"entities": {"gene": [{"text": "PRDM1", "start": 66, "end": 71}], "disease": [{"text": "aggressive behavior", "start": 149, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We studied Prothrombin gene G20210A mutation, Factor V Leiden, deficiencies in protein S and C and antithrombin in 930 Caucasian infertile women referred to Fertility Center of the Department of Sciences for Woman and Child' s Health, University of Florence, of whom 230 with unexplained, 195 female and 283 male infertility, and in 240 women who have conceived naturally without hormonal stimulation therapy.", "output": {"entities": {"gene": [{"text": "Factor V Leiden", "start": 46, "end": 61}], "disease": [{"text": "male infertility", "start": 308, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "The most sensitive sites where application of SP into the NTS evoked dose-dependent hypotension and bradycardia were at the level of the posterior tip of the area postrema (zero level) and at the level of the obex.", "output": {"entities": {"gene": [{"text": "SP", "start": 46, "end": 48}], "disease": [{"text": "bradycardia", "start": 100, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP", "start": 46, "end": 48}, "tail": {"text": "bradycardia", "start": 100, "end": 111}}]}}, "schema": []}
{"input": "Based in part on these data, PKC412 was administered to a patient with t (8; 13) (p11; q12) and was efficacious in treatment of progressive myeloproliferative disorder with organomegaly.", "output": {"entities": {"gene": [{"text": "p11", "start": 82, "end": 85}], "disease": [{"text": "myeloproliferative disorder", "start": 140, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.", "output": {"entities": {"gene": [{"text": "SMOC-1", "start": 28, "end": 34}], "disease": [{"text": "Waardenburg Anophthalmia) syndrome", "start": 64, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMOC-1", "start": 28, "end": 34}, "tail": {"text": "Waardenburg Anophthalmia) syndrome", "start": 64, "end": 98}}]}}, "schema": []}
{"input": "This study aimed to investigate the effects of TRIM28 on the phenotypic switching of human aortic smooth muscle cells (HASMCs), which is considered as a fundamental event during the development of atherosclerosis.", "output": {"entities": {"gene": [{"text": "TRIM28", "start": 47, "end": 53}], "disease": [{"text": "atherosclerosis", "start": 197, "end": 212}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIM28", "start": 47, "end": 53}, "tail": {"text": "atherosclerosis", "start": 197, "end": 212}}]}}, "schema": []}
{"input": "Familial paroxysmal kinesigenic dyskinesia (PKD) is caused by PRRT2 mutations, but a distinct etiology has been suggested for sporadic PKD.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 62, "end": 67}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "ABCA12, ABCA13, ABCC1, ABCC8 and ABCD2 present potential modifiers of progression and response to the chemotherapy of breast carcinoma.", "output": {"entities": {"gene": [{"text": "ABCA12", "start": 0, "end": 6}], "disease": [{"text": "breast carcinoma", "start": 118, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In this situation, we proposed that plectin, one of the intermediate filament associated proteins, might play some special roles in the tumorigenesis.", "output": {"entities": {"gene": [{"text": "plectin", "start": 36, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "A single in vivo study in Caenorhabditis elegans suggested that wild type human TTR could suppress the abnormalities seen when Aβ was expressed in the muscle cells of the worm.", "output": {"entities": {"gene": [{"text": "TTR", "start": 80, "end": 83}], "disease": [{"text": "worm", "start": 171, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The main conclusion of our study is that there is a reduced expression of regulatory T cell associated genes in BALF CD4 + T cells in sarcoidosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 117, "end": 120}], "disease": [{"text": "sarcoidosis", "start": 134, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "As for non-neoplastic gastric epithelia, 1% (one of 91) from noncancer-bearing and 5% (four of 71) from cancer-bearing stomachs exhibited Chfr promoter hypermethylation.", "output": {"entities": {"gene": [{"text": "Chfr", "start": 138, "end": 142}], "disease": [{"text": "non-neoplastic", "start": 7, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Enhanced stability of Mcl1, a prosurvival Bcl2 relative, blunts stress-induced apoptosis, causes male sterility, and promotes tumorigenesis.", "output": {"entities": {"gene": [{"text": "Mcl1", "start": 22, "end": 26}], "disease": [{"text": "male sterility", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "These results indicate altered regulation of transferrin and ceruloplasmin in autistic children who lose acquired language skills.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 61, "end": 74}], "disease": [{"text": "autistic", "start": 78, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 61, "end": 74}, "tail": {"text": "autistic", "start": 78, "end": 86}}]}}, "schema": []}
{"input": "Both the ICAM1 rs5491 and the CRP rs3091244 were shown to have significant association with MetS after adjustment for age, sex, smoking, and body mass index, but not after adjustment for levels of the respective serum marker.", "output": {"entities": {"gene": [{"text": "ICAM1", "start": 9, "end": 14}], "disease": [{"text": "smoking", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "(2013) discover a molecular link between the Nek8 kinase, mutated in the renal ciliopathy nephronophthisis, and DNA damage control by cyclin A/Cdk2 and ATR-Chk1, providing new ideas for targeted therapies limiting tissue degeneration.", "output": {"entities": {"gene": [{"text": "Chk1", "start": 156, "end": 160}], "disease": [{"text": "nephronophthisis", "start": 90, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "A mechanism underlying ischemia-induced cell death is activation of the gene silencing transcription factor REST (repressor element-1 silencing transcription factor)/NRSF (neuron-restrictive silencing factor) and REST-dependent suppression of the AMPA receptor subunit GluR2 in CA1 neurons destined to die.", "output": {"entities": {"gene": [{"text": "CA1", "start": 278, "end": 281}], "disease": [{"text": "ischemia", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "To clarify the association between a polymorphism-449 C > G (rs72696119) in 5'-UTR of NFKB1 with ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "UTR", "start": 79, "end": 82}], "disease": [{"text": "ulcerative colitis", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "SLC4A1", "start": 262, "end": 268}], "disease": [{"text": "drinking", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This work aimed to study correlation between homeostasis model assessment estimate of insulin resistance (HOMA-IR) with serum levels of inflammatory markers tumor necrosis factor alpha (TNF-alpha), interleukin 6 (IL-6), C-reactive protein (CRP), and free fatty acids (FFAs) in experimental model of induced type 2 diabetes in rats, with evaluation of effects of rosiglitazone and aspirin (low or high dose), alone or in combination.", "output": {"entities": {"gene": [{"text": "CRP", "start": 240, "end": 243}], "disease": [{"text": "insulin resistance", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Intramyocardial injection of HGF and MB in combination with insonation enhances neovascularization and reduces ventricular remodeling and infarct size.", "output": {"entities": {"gene": [{"text": "HGF", "start": 29, "end": 32}], "disease": [{"text": "ventricular remodeling", "start": 111, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Re-analysis of a microarray database of human postmortem prefrontal cortex (Brodmann' s Area 46/10) found that RNF41 messenger RNA expression levels were reduced significantly in patients with major depression and bipolar disorder compared with unaffected control subjects and confirmed by qRT-PCR.", "output": {"entities": {"gene": [{"text": "RNF41", "start": 111, "end": 116}], "disease": [{"text": "bipolar disorder", "start": 214, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNF41", "start": 111, "end": 116}, "tail": {"text": "bipolar disorder", "start": 214, "end": 230}}]}}, "schema": []}
{"input": "In an in vivo study using an isoproterenol-induced cardiac hypertrophy animal model, an acute infusion of ANG-(1-7) increased the plasma concentration of ANP by twofold without changes in blood pressure and heart rate.", "output": {"entities": {"gene": [{"text": "ANG", "start": 106, "end": 109}], "disease": [{"text": "cardiac hypertrophy", "start": 51, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The subependymoma tissue microarrays demonstrated tumor expression of p53, MDM2, HIF-1α, topoisomerase II-β, p-STAT3, and nucleolin, but not EGFRvIII, EphA2, IL-13RA2, CMV, CTLA-4, FoxP3, PD-1, PD-L1, EGFR, PDGF-α, PDGF-β, PDGFR-α, PDGFR-β, PTEN, IGFBP2, PI3K, MDM4, IDH1, mTOR, or Jak2.", "output": {"entities": {"gene": [{"text": "Jak2", "start": 282, "end": 286}], "disease": [{"text": "subependymoma", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Diagnosis of Conradi-H & #252; nermann-Happle syndrome was confirmed by plasma sterol analysis showing markedly elevated levels of 8 (9)-cholestenol and 8-dehydrocholesterol and by detection of a missense mutation (c. 307G & gt; A; p. E103K) in the emopamil-binding protein gene.", "output": {"entities": {"gene": [{"text": "emopamil-binding protein", "start": 249, "end": 273}], "disease": [{"text": "Happle syndrome", "start": 39, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "emopamil-binding protein", "start": 249, "end": 273}, "tail": {"text": "Happle syndrome", "start": 39, "end": 54}}]}}, "schema": []}
{"input": "TRAIL-deficient mice exhibit delayed regression of retinal neovascularization.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 0, "end": 5}], "disease": [{"text": "retinal neovascularization", "start": 51, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "], hypoxia and oxidative stress [hypoxia inducible factor 1-α subunit (HIF1A) and β-site APP-cleaving enzyme-2 (BACE2)] and endothelial dysfunction [endoglin (ENG), fms-related tyrosine kinase-1 (FLT1) and vascular endothelial growth factor (VEGF)].", "output": {"entities": {"gene": [{"text": "APP", "start": 89, "end": 92}], "disease": [{"text": "hypoxia", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Podoplanin expression was determined immunohistochemically in 145 sporadic adult GISTs.", "output": {"entities": {"gene": [{"text": "Podoplanin", "start": 0, "end": 10}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the underlying mechanisms of emphysema and pulmonary hypertension due to PA occlusion are not well understood, and therefore ku70 (-/-) and Bax-deficient ku70 (-/-) mice may be useful models to study these diseases.", "output": {"entities": {"gene": [{"text": "ku70", "start": 138, "end": 142}], "disease": [{"text": "pulmonary hypertension", "start": 56, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "FISH was used on frozen sections of 68 surgically resected lung carcinoma (20 adenocarcinoma; 37 squamous cell carcinoma; 11 large, small, and other cell carcinoma).", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "squamous cell carcinoma", "start": 97, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X).", "output": {"entities": {"gene": [{"text": "NR0B1", "start": 61, "end": 66}], "disease": [{"text": "AHC", "start": 89, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR0B1", "start": 61, "end": 66}, "tail": {"text": "AHC", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "Here, we show that neuronal insults trigger activation of REST and CoREST in a clinically relevant model of ischemic stroke and that REST binds a subset of \" transcriptionally responsive \" genes (gria2, grin1, chrnb2, nefh, nfκb2, trpv1, chrm4, and syt6), of which the AMPA receptor subunit GluA2 is a top hit.", "output": {"entities": {"gene": [{"text": "nefh", "start": 218, "end": 222}], "disease": [{"text": "ischemic stroke", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Mutations were also detected in two of seven sporadic Currarino syndrome patients; the remainder could be explained by undetected mosaicism for an HLXB9 mutation or by genetic heterogeneity in the sporadic patients.", "output": {"entities": {"gene": [{"text": "HLXB9", "start": 147, "end": 152}], "disease": [{"text": "Currarino syndrome", "start": 54, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLXB9", "start": 147, "end": 152}, "tail": {"text": "Currarino syndrome", "start": 54, "end": 72}}]}}, "schema": []}
{"input": "One of the many cognitive deficits reported in bipolar disorder (BD) patients is facial emotion recognition (FER), which has recently been associated with dopaminergic catabolism.", "output": {"entities": {"gene": [{"text": "FER", "start": 109, "end": 112}], "disease": [{"text": "bipolar disorder", "start": 47, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We recently reported that calcitonin gene-related peptide (CGRP) reversed the hypertension induced by nitric oxide inhibition in pregnant rats and that this effect appeared to be progesterone dependent.", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 26, "end": 36}], "disease": [{"text": "hypertension", "start": 78, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "calcitonin", "start": 26, "end": 36}, "tail": {"text": "hypertension", "start": 78, "end": 90}}]}}, "schema": []}
{"input": "We investigated the role of ELF in primary biliary cirrhosis (PBC), autoimmune hepatitis C, chronic viral hepatitis and in livers from mice deficient in Smad2/Smad3.", "output": {"entities": {"gene": [{"text": "Smad3", "start": 159, "end": 164}], "disease": [{"text": "chronic viral hepatitis", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.", "output": {"entities": {"gene": [{"text": "TCF8", "start": 22, "end": 26}], "disease": [{"text": "Fuchs corneal dystrophy", "start": 44, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF8", "start": 22, "end": 26}, "tail": {"text": "Fuchs corneal dystrophy", "start": 44, "end": 67}}]}}, "schema": []}
{"input": "Two typical SMA-I patients and a milder case each had 2 copies of the SMN2 gene and more restricted neuropathologic abnormalities.", "output": {"entities": {"gene": [{"text": "SMN2 gene", "start": 70, "end": 79}], "disease": [{"text": "abnormalities", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Moreover, accelerated telomere shortening may be induced by replicative stress or oxidative damage, leading to genomic instability, and inactivating polymorphisms of the gene encoding NADPH-quinone oxidoreductase (NQO1) are more frequently observed in patients with t-AML.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 214, "end": 218}], "disease": [{"text": "genomic instability", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The IGH translocation partner could be identified in four cHL and involved BCL2 and BCL3 in two cases each.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 84, "end": 88}], "disease": [{"text": "translocation", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "In Patient 1 (a boy, age 1. 9 years), with delayed psychomotor development, epilepsy, deficits of body mass and height, cryptorchidism, low insulin-like growth factor (IGF-1) levels were found and magnetic resonance imaging (MRI) revealed hypoplasia of midline structures of the central nervous system (CNS).", "output": {"entities": {"gene": [{"text": "MRI", "start": 225, "end": 228}], "disease": [{"text": "epilepsy", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, immunohistochemistry is more advantageous compared to mutator phenotyping assay in terms of simplicity, less time consuming and cost effectiveness for screening possible involvements of target MMR genes in tumorigenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 206, "end": 209}], "disease": [{"text": "tumorigenesis", "start": 219, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "We studied the NF1 gene in 93 unrelated patients with neurofibromatosis type1, focusing the analysis on four exons that contain the highest number of possible mutations occurring at CpG sites.", "output": {"entities": {"gene": [{"text": "NF1", "start": 15, "end": 18}], "disease": [{"text": "neurofibromatosis", "start": 54, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 15, "end": 18}, "tail": {"text": "neurofibromatosis", "start": 54, "end": 71}}]}}, "schema": []}
{"input": "Beclin1-induced autophagy abrogates radioresistance of lung cancer cells by suppressing osteopontin.", "output": {"entities": {"gene": [{"text": "Beclin1", "start": 0, "end": 7}], "disease": [{"text": "lung cancer", "start": 55, "end": 66}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Beclin1", "start": 0, "end": 7}, "tail": {"text": "lung cancer", "start": 55, "end": 66}}]}}, "schema": []}
{"input": "The variants were observed only in the DNA of individuals who were either affected or who had inherited the MEN2A or FMTC allele as determined by haplotyping experiments.", "output": {"entities": {"gene": [{"text": "MEN2A", "start": 108, "end": 113}], "disease": [{"text": "FMTC", "start": 117, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN2A", "start": 108, "end": 113}, "tail": {"text": "FMTC", "start": 117, "end": 121}}]}}, "schema": []}
{"input": "Mutations in PS1, PS2, and Aβ protein precursor are involved in the etiology of familial Alzheimer' s disease (FAD), while the cause of the sporadic form of AD (SAD) is still not known.", "output": {"entities": {"gene": [{"text": "FAD", "start": 111, "end": 114}], "disease": [{"text": "sporadic", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Despite this protection, TB granulomas are often hypoxic, and bacterial killing via NOS2 in these conditions is likely suboptimal.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 84, "end": 88}], "disease": [{"text": "hypoxic", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Besides genes that were already known to be highly expressed in CCSST, like S100A11 (S100 protein) or MITF (microphthalmia-associated transcription factor), this group shows an obvious portion of genes that are involved in cyclic AMP response or regulation, in pigmentation processes, or in neuronal structure and signaling.", "output": {"entities": {"gene": [{"text": "S100A11", "start": 76, "end": 83}], "disease": [{"text": "pigmentation", "start": 261, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 15, "end": 19}], "disease": [{"text": "Costello syndrome", "start": 56, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 15, "end": 19}, "tail": {"text": "Costello syndrome", "start": 56, "end": 73}}]}}, "schema": []}
{"input": "Neuronal apoE immunoreactivity was significantly increased in all hippocampal sectors (CA1, CA2, CA3/CA4, dentate fascia) and in the neocortex of the global ischemia group compared with controls (p < 0. 0001).", "output": {"entities": {"gene": [{"text": "CA1", "start": 87, "end": 90}], "disease": [{"text": "ischemia", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Here we show that LOX expression is regulated by hypoxia-inducible factor (HIF) and is associated with hypoxia in human breast and head and neck tumours.", "output": {"entities": {"gene": [{"text": "LOX", "start": 18, "end": 21}], "disease": [{"text": "hypoxia", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We have recently shown that the inflammatory transcription factor SAF-1 is, at least in part, responsible for the marked increase of VEGF levels in breast cancer.", "output": {"entities": {"gene": [{"text": "SAF", "start": 66, "end": 69}], "disease": [{"text": "breast cancer", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Southern restriction analysis revealed no evidence of amplification or rearrangement of the gene for basic FGF in schwannomas or in the astrocytoma cell line U87-MG.", "output": {"entities": {"gene": [{"text": "U87", "start": 158, "end": 161}], "disease": [{"text": "astrocytoma", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Taken together, it is concluded that CTS may attenuate ischemia and reperfusion-induced microcirculatory disturbances by inhibition of proinflammatory cytokine production, reduction of neutrophil infiltration and possibly inhibition of adhesion molecules through inhibition of NF-kappaB-activation during ischemia and reperfusion.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 277, "end": 286}], "disease": [{"text": "adhesion", "start": 236, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "We screened a group of 28 probands with familial combined hyperlipidaemia and a group of 91 population controls for two LPL gene mutations, D9N and N291S.", "output": {"entities": {"gene": [{"text": "LPL", "start": 120, "end": 123}], "disease": [{"text": "familial combined hyperlipidaemia", "start": 40, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPL", "start": 120, "end": 123}, "tail": {"text": "familial combined hyperlipidaemia", "start": 40, "end": 73}}]}}, "schema": []}
{"input": "The study population (n = 121) consisted of 95 infertile men with OAT and 26 controls with normozoospermia.", "output": {"entities": {"gene": [{"text": "OAT", "start": 66, "end": 69}], "disease": [{"text": "infertile", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "With the E1a/E1b transgenic mice, tumors were found to arise near the junction between the squamous and columnar epithelia, as found in several human cancers, including cervical and esophageal carcinomas, and thus appear to be an ideal animal model for determining why the squamocolumnar junction is such a hot spot for the development of human tumors of epithelial derivation.", "output": {"entities": {"gene": [{"text": "E1b", "start": 13, "end": 16}], "disease": [{"text": "carcinomas", "start": 193, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal region 5q31 harbours a number of genes associated with atopic phenotypes, for example the genes coding for interleukin (IL) 4, IL13 and the beta (2)-adrenoreceptor.", "output": {"entities": {"gene": [{"text": "IL13", "start": 139, "end": 143}], "disease": [{"text": "atopic", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "LITAF protein expression was positively correlated with BMI (r = 0. 541, P < 0. 001), waist circumference (r = 0. 391, P = 0. 007), the homeostasis model assessment for insulin resistance (r = 0. 372, P = 0. 011) and fasting insulin levels (r = 0. 359, P = 0. 013).", "output": {"entities": {"gene": [{"text": "LITAF", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 169, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The positive rate of p16ink4a was 5. 35% in normal or inflammation cases, 56. 67% in CIN 1, 83. 78% in CIN 2-3, 100. 00% in carcinoma, respectively, with a significance between < CIN2 and ≥ CIN 2 (P < 0. 001).", "output": {"entities": {"gene": [{"text": "p16ink4a", "start": 21, "end": 29}], "disease": [{"text": "inflammation", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "To determine whether genetic polymorphisms in detoxification enzymes predispose to the development of CRC, 371 patients with sporadic CRC and 415 healthy controls were genotyped for polymorphisms in the important detoxification enzymes UDP-glucuronosyltransferase UGT1A1, UGT1A6, UGT1A7 and UGT1A8, and glutathione S-transferase GSTA1, GSTM1, GSTP1 and GSTT1.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 264, "end": 270}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIM #614303).", "output": {"entities": {"gene": [{"text": "MIM", "start": 196, "end": 199}], "disease": [{"text": "keratoconus", "start": 30, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The phenotype associated with FBXO7 mutations consisted of early-onset, progressive parkinsonism and pyramidal tract signs, thereby matching clinically the pallido-pyramidal syndrome of Davison.", "output": {"entities": {"gene": [{"text": "FBXO7", "start": 30, "end": 35}], "disease": [{"text": "pallido-pyramidal syndrome", "start": 156, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBXO7", "start": 30, "end": 35}, "tail": {"text": "pallido-pyramidal syndrome", "start": 156, "end": 182}}]}}, "schema": []}
{"input": "In the present review, we discuss the close inter-relationships among deficits of lysosomal function, autophagy and Ca2 + homoeostasis as a pathogenic process in PS1-related FAD and their relevance to sporadic AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 174, "end": 177}], "disease": [{"text": "sporadic", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "No evidence of significant silencing of Fanconi genes FANCF and FANCB or Nijmegen breakage syndrome gene NBS1 by DNA hyper-methylation in sporadic childhood leukaemia.", "output": {"entities": {"gene": [{"text": "FANCF", "start": 54, "end": 59}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "JNK inhibition in vivo (using two JNK inhibitors with different mechanisms of action) markedly reduced mortality in murine paracetamol hepatotoxicity, with a significant reduction in hepatic necrosis and apoptosis.", "output": {"entities": {"gene": [{"text": "JNK", "start": 0, "end": 3}], "disease": [{"text": "hepatic necrosis", "start": 183, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of a basolateral FXR-dependent bile acid efflux transporter OSTalpha-OSTbeta in cholestasis in humans and rodents.", "output": {"entities": {"gene": [{"text": "OSTbeta", "start": 82, "end": 89}], "disease": [{"text": "cholestasis", "start": 93, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OSTbeta", "start": 82, "end": 89}, "tail": {"text": "cholestasis", "start": 93, "end": 104}}]}}, "schema": []}
{"input": "We sought to determine whether polymorphisms in the transforming growth factor (TGF)-beta3 gene are associated with risk of pregnancy-induced hypertension (PIH) in case-control mother-baby dyads.", "output": {"entities": {"gene": [{"text": "beta3", "start": 85, "end": 90}], "disease": [{"text": "pregnancy-induced hypertension", "start": 124, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In our cohort, no evidence of correlation between TLR-2 or TLR-4 polymorphism and eczema and food allergy incidence and/or severity was found.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 59, "end": 64}], "disease": [{"text": "food allergy", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "T (H17) cells have been demonstrated to regulate allergic asthma in general and T-bet-deficiency-induced asthma in particular.", "output": {"entities": {"gene": [{"text": "H17", "start": 3, "end": 6}], "disease": [{"text": "allergic asthma", "start": 49, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Similarly, the higher expression of PAR-2 was observed in chronic pancreatitis with severe fibrosis than with mild fibrosis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 36, "end": 39}], "disease": [{"text": "chronic pancreatitis", "start": 58, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Twenty-two Japanese patients with glaucomatocyclitic crisis were typed for HLA-A, HLA-B, and HLA-C antigens to detect the immunogenetic factors in this disease.", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 82, "end": 87}], "disease": [{"text": "glaucomatocyclitic crisis", "start": 34, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We show that the MLL gene is fused to the gene that codes for CBP (CREB-binding protein), the protein that binds specifically to the DNA-binding protein CREB (cAMP response element-binding protein) in this translocation.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 133, "end": 152}], "disease": [{"text": "translocation", "start": 206, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Medial hypothalamic 5-hydroxytryptamine (5-HT) 1A receptors regulate neuroendocrine responses to stress and exploratory locomotor activity: application of recombinant adenovirus containing 5-HT1A sequences.", "output": {"entities": {"gene": [{"text": "5-HT1A", "start": 189, "end": 195}], "disease": [{"text": "adenovirus", "start": 167, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Genetic p23 knockdown was found to result in decreases in steady-state PHD2 protein and activity and reduced susceptibility to MPP & lt; sup & gt; + & lt;/sup & gt; neurotoxicity.", "output": {"entities": {"gene": [{"text": "PHD2", "start": 71, "end": 75}], "disease": [{"text": "neurotoxicity", "start": 165, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PHD2", "start": 71, "end": 75}, "tail": {"text": "neurotoxicity", "start": 165, "end": 178}}]}}, "schema": []}
{"input": "Our work provides a mechanism for the coordinate repression of let-7 miRNAs observed in a subset of human cancers, and associates activation of LIN28 and LIN28B with poor clinical prognosis.", "output": {"entities": {"gene": [{"text": "LIN28", "start": 144, "end": 149}], "disease": [{"text": "cancers", "start": 106, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIN28", "start": 144, "end": 149}, "tail": {"text": "cancers", "start": 106, "end": 113}}]}}, "schema": []}
{"input": "This study demonstrates for the first time that Purkinje cell loss and reactive astrocytosis of the cerebellum in FAD are more severe than in SAD, but that beta-amyloid deposition in the cerebellum in both FAD and SAD are similar.", "output": {"entities": {"gene": [{"text": "FAD", "start": 114, "end": 117}], "disease": [{"text": "astrocytosis", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In our current article, we have transiently expressed 16 previously reported missense mutations detected in the F13A1 gene of patients with mild FXIII deficiency and analyzed their respective expression phenotype.", "output": {"entities": {"gene": [{"text": "F13A1 gene", "start": 112, "end": 122}], "disease": [{"text": "mild", "start": 140, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Since microtubule-dependent processes are critical to the function and morphogenesis of the photoreceptors and RPE, the abundantly expressed KIFC3 was considered to be a potential candidate gene for causing human retinal degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 111, "end": 114}], "disease": [{"text": "retinal degeneration", "start": 213, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Ten ileal neuroendocrine tumours (INET) made up the control group for EWSR1-FEV translocation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 70, "end": 75}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "miR-21 regulates triglyceride and cholesterol metabolism in non-alcoholic fatty liver disease by targeting HMGCR.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 107, "end": 112}], "disease": [{"text": "non-alcoholic fatty liver disease", "start": 60, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We provide the first evidence of BBS12 mutations related to severe phenotypes as previously described for patients with BBS10, while BBS1 ocular phenotype should not be considered as mild as generally reported when compared with other BBS phenotypes.", "output": {"entities": {"gene": [{"text": "BBS1", "start": 33, "end": 37}], "disease": [{"text": "mild", "start": 183, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Less frequently, mutations in the myelin protein zero gene (MPZ/P (0)) account for demyelinating CMT1B, Dejerine-Sottas syndrome (DSS), or congenital hypomyelinating neuropathy (CHN).", "output": {"entities": {"gene": [{"text": "CHN", "start": 178, "end": 181}], "disease": [{"text": "congenital hypomyelinating neuropathy", "start": 139, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "After 5 weeks of therapy with MZ-5-156 or JV-1-36, final volume and weight of MDA-MB-468 tumors were significantly decreased (all p values < 0. 001) and serum IGF-I levels as well as tumor IGF-I mRNA expression were reduced as compared with controls.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 159, "end": 164}], "disease": [{"text": "weight", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Only 3 of 23 (13%) possible CMTX families had connexin 32 mutations.", "output": {"entities": {"gene": [{"text": "connexin 32", "start": 46, "end": 57}], "disease": [{"text": "CMTX", "start": 28, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "connexin 32", "start": 46, "end": 57}, "tail": {"text": "CMTX", "start": 28, "end": 32}}]}}, "schema": []}
{"input": "We analyzed the status of SMARCB1/INI1 protein expression in 93 cases of sarcomas associated with chromosomal translocation involving EWS, comprising 52 Ewing' s sarcoma/primitive neuroectodermal tumors, 24 extraskeletal myxoid chondrosarcomas (EMCS), 14 clear cell sarcomas of soft tissue, 2 desmoplastic small round cell tumors, and 1 myxoid/round cell liposarcoma.", "output": {"entities": {"gene": [{"text": "EWS", "start": 134, "end": 137}], "disease": [{"text": "chromosomal translocation", "start": 98, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated correlations between polymorphisms (-1438G/A and 102T/C) of the 5-HT2A gene and personality traits in healthy Japanese volunteers (n = 239).", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 86, "end": 92}], "disease": [{"text": "personality traits", "start": 102, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Several LAAs are expressed in CML and therefore are candidate structures for specific immunotherapies: bcr-abl (100%), G250 (24%), hTERT (53%), MPP11 (91%), NEWREN60 (94%), PRAME (62%), Proteinase3 (71%), RHAMM/CD168 (83%), and WT1 (53%), but not BAGE, MAGE-A1, SSX2, or NY-ESO-1.", "output": {"entities": {"gene": [{"text": "PRAME", "start": 173, "end": 178}], "disease": [{"text": "CML", "start": 30, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRAME", "start": 173, "end": 178}, "tail": {"text": "CML", "start": 30, "end": 33}}]}}, "schema": []}
{"input": "Tumor BRCA1, RRM1 and RRM2 mRNA expression levels and clinical response to first-line gemcitabine plus docetaxel in non-small-cell lung cancer patients.", "output": {"entities": {"gene": [{"text": "RRM2", "start": 22, "end": 26}], "disease": [{"text": "lung cancer", "start": 131, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Here we found that GAT1 (-/-) mice showed a lower level of depression-and anxiety-like behaviors in comparison to wild-type mice.", "output": {"entities": {"gene": [{"text": "GAT1", "start": 19, "end": 23}], "disease": [{"text": "depression", "start": 59, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAT1", "start": 19, "end": 23}, "tail": {"text": "depression", "start": 59, "end": 69}}]}}, "schema": []}
{"input": "Our results validate the clinical specificity of the facial appearance, skeletal/hand anomalies, and supernumerary nipples in patients with GPC3 deletions.", "output": {"entities": {"gene": [{"text": "GPC3", "start": 140, "end": 144}], "disease": [{"text": "facial appearance", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization was positive for both EWSR1 and NR4A3 translocation in 3 cases; rearrangement for EWSR1 or NR4A3, but not both, was seen in 2 tumors.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 57, "end": 62}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PRKAG2, the gene for the gamma2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiological abnormalities.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 13, "end": 19}], "disease": [{"text": "cardiac hypertrophy", "start": 103, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The tissue expression of vaspin and its serum levels decrease with worsening of diabetes and body weight loss at 50 wk.", "output": {"entities": {"gene": [{"text": "vaspin", "start": 25, "end": 31}], "disease": [{"text": "body weight", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings demonstrate that partial GLT-1 loss can cause insulin/Akt signaling abnormalities that are in keeping with those observed in AD.", "output": {"entities": {"gene": [{"text": "GLT-1", "start": 56, "end": 61}], "disease": [{"text": "abnormalities", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Here, we employed several complementary mouse models of intestinal cancers, including the Slit2 transgenic mice, the ApcMin/+ spontaneous intestinal adenoma mouse model, and the DMH/DSS-induced colorectal carcinoma model to clarify function of Slit2/Robo1 signaling in intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "DMH", "start": 178, "end": 181}], "disease": [{"text": "tumorigenesis", "start": 280, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Consistent with a role for TAZ in controlling proliferation and tumorigenesis, the downregulation of NPHP9 inhibited the TAZ-dependent proliferation of hippo-responsive normal epithelial and also breast cancer cells.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 27, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "COX-2 immunohistochemistry was performed in pancreata of hamsters subjected to the carcinogen N-nitrosobis-(2-oxopropyl) amine (BOP) and in human pancreatic tumors.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 0, "end": 5}], "disease": [{"text": "pancreatic tumors", "start": 146, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 0, "end": 5}, "tail": {"text": "pancreatic tumors", "start": 146, "end": 163}}]}}, "schema": []}
{"input": "The study group consisted of 187 infertile men (86 with non-obstructive azoospermia (NOA) and 101 with oligoasthenoteratozoospermia (OAT)), whereas the control group comprised of 194 fertile men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 133, "end": 136}], "disease": [{"text": "infertile", "start": 33, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Nrf2-mediated transcriptional induction of antioxidant response in mouse embryos exposed to ethanol in vivo: implications for the prevention of fetal alcohol spectrum disorders.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 0, "end": 4}], "disease": [{"text": "fetal alcohol spectrum disorders", "start": 144, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nrf2", "start": 0, "end": 4}, "tail": {"text": "fetal alcohol spectrum disorders", "start": 144, "end": 176}}]}}, "schema": []}
{"input": "These results suggest that B27 misfolding is associated with intestinal inflammation, but that neither B27 misfolding nor intestinal inflammation is critical to the development of B27-associated arthropathy.", "output": {"entities": {"gene": [{"text": "B27", "start": 27, "end": 30}], "disease": [{"text": "arthropathy", "start": 195, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "We found that truncation fusions of yeast FIP1 analogous to those in cancer cause loss of function and that siRNA knockdown of FIP1L1 in human cells increases DNA damage and chromosome breakage.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 127, "end": 133}], "disease": [{"text": "chromosome breakage", "start": 174, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21. 31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features.", "output": {"entities": {"gene": [{"text": "KANSL1", "start": 35, "end": 41}], "disease": [{"text": "hypotonia", "start": 168, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KANSL1", "start": 35, "end": 41}, "tail": {"text": "hypotonia", "start": 168, "end": 177}}]}}, "schema": []}
{"input": "Primary pulmonary MALT lymphomas show frequent and heterogeneous cytogenetic abnormalities, including aneuploidy and translocations involving API2 and MALT1 and IGH and MALT1.", "output": {"entities": {"gene": [{"text": "MALT1", "start": 151, "end": 156}], "disease": [{"text": "cytogenetic abnormalities", "start": 65, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Immunocytochemical detection of the homeobox B3, B4, and C6 gene products in childhood medulloblastomas/primitive neuroectodermal tumors.", "output": {"entities": {"gene": [{"text": "C6 gene", "start": 57, "end": 64}], "disease": [{"text": "primitive neuroectodermal tumors", "start": 104, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "By downregulating Bcl-w and E2F6, miR-205 and miR-31 promote chemotherapeutic agents-induced apoptosis in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "E2F6", "start": 28, "end": 32}], "disease": [{"text": "prostate cancer", "start": 106, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Our studies identify an essential function for FAK in mediating the interaction between beta3 integrin and TbetaR-II, and thus in facilitating the oncogenic conversion of TGF-beta required for mammary tumor metastasis.", "output": {"entities": {"gene": [{"text": "FAK", "start": 47, "end": 50}], "disease": [{"text": "mammary tumor", "start": 193, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Given the importance of Notch signaling in thymocyte development and T-ALL disease progression, we hypothesized that the activated AHR potentiates disease initiation and progression in an in vivo model of Notch1-induced thymoma.", "output": {"entities": {"gene": [{"text": "AHR", "start": 131, "end": 134}], "disease": [{"text": "thymoma", "start": 220, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "In addition, the HIP1-ALK-rearranged tumor is sensitive to treatment with crizotinib in vivo, implicating HIP1-ALKas an oncogenic driver of lung tumorigenesis.", "output": {"entities": {"gene": [{"text": "HIP1", "start": 17, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to examine the contributions of HLA and CTLA-4 to the familial clustering of GD by analyzing them for association with familial and sporadic GD.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 65, "end": 71}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The increased expression of TRPS1 found by three independent methods is most probably translocation allele derived and driven by the translocated enhancer element.", "output": {"entities": {"gene": [{"text": "TRPS1", "start": 28, "end": 33}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Necrotizing enterocolitis (NEC), the leading cause of gastrointestinal death from gastrointestinal disease in preterm infants, is characterized by exaggerated TLR4 signaling and decreased enterocyte proliferation through unknown mechanisms.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 159, "end": 163}], "disease": [{"text": "gastrointestinal disease", "start": 82, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The downregulated genes coded tight junction proteins (CLDN8), solute transporters (SLCs), and adhesion proteins.", "output": {"entities": {"gene": [{"text": "CLDN8", "start": 55, "end": 60}], "disease": [{"text": "adhesion", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Increased inflammation was correlated to an enhancement of TH2 and, to a greater extent, TH1 responses and to increased skin expression of nuclear factor kappaB.", "output": {"entities": {"gene": [{"text": "TH1", "start": 89, "end": 92}], "disease": [{"text": "inflammation", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "ALA dehydratase porphyria (ADP) and congenital erythropoietic porphyria (CEP) are autosomal recessive porphyrias, and are typically expressed at birth or in childhood.", "output": {"entities": {"gene": [{"text": "ADP", "start": 27, "end": 30}], "disease": [{"text": "congenital erythropoietic porphyria", "start": 36, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms at 3' UTR and D543N loci had statistically significant association between the NRAMP1 variants and susceptibility to tuberculosis in the East-Asia descendants, and variant in the INT4 locus failed to show statistically significant association in the East-Asia population.", "output": {"entities": {"gene": [{"text": "INT4", "start": 193, "end": 197}], "disease": [{"text": "susceptibility to tuberculosis", "start": 113, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "A multiple logistic regression analysis showed that age (odds ratio [OR]: 1. 07, 95% confidence interval [95% CI]: 1. 06-1. 08), body mass index (BMI) (OR: 1. 18, 95% CI: 1. 13-1. 23), alcohol consumption (OR: 1. 39, 95% CI: 1. 16-1. 66), family history of hypertension (OR: 1. 57, 95% CI: 1. 18-2. 07), and combined AGT M235T Thr/Thr and ADD1 Trp/Trp polymorphisms (OR: 1. 37, 95% CI: 1. 03-1. 82) were associated with hypertension.", "output": {"entities": {"gene": [{"text": "ADD1", "start": 339, "end": 343}], "disease": [{"text": "alcohol consumption", "start": 185, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The mechanism of FGFR3 activation in TDII was probed by constructing various point mutations in the activation loop.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 17, "end": 22}], "disease": [{"text": "TDII", "start": 37, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 17, "end": 22}, "tail": {"text": "TDII", "start": 37, "end": 41}}]}}, "schema": []}
{"input": "For the first time, we identified the distribution of ghrelin receptor in digestive system cancers.", "output": {"entities": {"gene": [{"text": "ghrelin receptor", "start": 54, "end": 70}], "disease": [{"text": "digestive system cancers", "start": 74, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ghrelin receptor", "start": 54, "end": 70}, "tail": {"text": "digestive system cancers", "start": 74, "end": 98}}]}}, "schema": []}
{"input": "A particular subset of genotypes, which included the GSTM1-null and GSTT1-null genotypes, the slow acetylator type of NAT2, a variant of the NQO1 genotype and the CYP2E1 DraI and RsaI genotypes, were either separately, or in combination, associated with increased frequencies of aneuploidy among the benzene-exposed individuals after adjustments for age, alcohol consumption and smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 118, "end": 122}], "disease": [{"text": "smoking", "start": 379, "end": 386}]}, "relations": {}}, "schema": []}
{"input": "Mosaicism for HRAS c. 37G & gt; C and KRAS c. 35G & gt; A mutations was found in two individuals with Schimmelpenning syndrome.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 14, "end": 18}], "disease": [{"text": "Schimmelpenning syndrome", "start": 102, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 14, "end": 18}, "tail": {"text": "Schimmelpenning syndrome", "start": 102, "end": 126}}]}}, "schema": []}
{"input": "A critical role of Sonic Hedgehog signaling in maintaining the tumorigenicity of neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "Sonic Hedgehog", "start": 19, "end": 33}], "disease": [{"text": "neuroblastoma", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Expression of IGF-R1, glycolysis-related proteins (GLUT-1, HK 2, PFK-1, LDHA, TKTL1), mitochondrial enzymes (SDHA, SDHB, ATP synthase) were analyzed in normal oral mucosa (n = 5), oral precursor lesions (simple hyperplasia, n = 11; squamous intraepithelial neoplasia, SIN I-III, n = 35), and OSCC specimen (n = 42) by immunohistochemistry and real-time polymerase chain reaction (qPCR) analysis in OSCC cell lines.", "output": {"entities": {"gene": [{"text": "SDHA", "start": 109, "end": 113}], "disease": [{"text": "intraepithelial neoplasia", "start": 241, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Metallothionein is a low-molecular-weight cysteine-rich protein that has the ability to bind and sequestrate heavy metal ions.", "output": {"entities": {"gene": [{"text": "cysteine-rich protein", "start": 42, "end": 63}], "disease": [{"text": "weight", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate a strikingly increased expression of Cx43 in both the pre-metastatic and metastatic melanoma cell lines that were actively migrating compared to non-migrating cells.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 61, "end": 65}], "disease": [{"text": "metastatic melanoma", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Inactivation of the PI3K/AKT pathway rescued DRAM translocation to mitochondria; subsequently, mitochondrial DRAM induced apoptosis in HCC cells by mediating mitophagy.", "output": {"entities": {"gene": [{"text": "HCC", "start": 135, "end": 138}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that the TERT promoter-driven CRAD is capable of tumor-selective replication and oncolysis in vitro and in vivo, and can be utilized as an adjuvant treatment agent for cancer.", "output": {"entities": {"gene": [{"text": "CRAD", "start": 51, "end": 55}], "disease": [{"text": "cancer", "start": 189, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "alpha-and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy.", "output": {"entities": {"gene": [{"text": "beta-Adducin", "start": 10, "end": 22}], "disease": [{"text": "proteinuria", "start": 66, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These results are the first to identify CACNA2D1 as a novel BrS susceptibility gene and CACNA1C, CACNB2, and CACNA2D1 as possible novel ERS susceptibility genes.", "output": {"entities": {"gene": [{"text": "CACNB2", "start": 97, "end": 103}], "disease": [{"text": "BrS", "start": 60, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNB2", "start": 97, "end": 103}, "tail": {"text": "BrS", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency but without deafness.", "output": {"entities": {"gene": [{"text": "BCAP31", "start": 114, "end": 120}], "disease": [{"text": "deafness", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "These data are the first evidence that expression of DCC transcript can be silenced in colon adenoma cell lines and tissues.", "output": {"entities": {"gene": [{"text": "DCC", "start": 53, "end": 56}], "disease": [{"text": "colon adenoma", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is thought to be a major player in the stimulus of this abnormal growth of blood vessels.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "abnormal growth", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Western blot assay also confirmed that KLF5 was up-regulated in COPD tissues and was negatively associated with miR-145-5p expression.", "output": {"entities": {"gene": [{"text": "KLF5", "start": 39, "end": 43}], "disease": [{"text": "COPD", "start": 64, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KLF5", "start": 39, "end": 43}, "tail": {"text": "COPD", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "Kid-1 mRNA levels decline after renal injury secondary to ischemia or folic acid administration, two insults which result in epithelial cell dedifferentiation, followed by regenerative hyperplasia and differentiation.", "output": {"entities": {"gene": [{"text": "Kid-1", "start": 0, "end": 5}], "disease": [{"text": "ischemia", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Addition of a low concentration of caffeine post-irradiation, although inefficient to restore S-phase progression, significantly decreases Chk1 activation and abrogates DNA synthesis in XP-V cells.", "output": {"entities": {"gene": [{"text": "Chk1", "start": 139, "end": 143}], "disease": [{"text": "caffeine", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Activation of the endogenous receptor in prostate cancer cells by the identified ligands evoked an intracellular Ca2 + increase.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 113, "end": 116}], "disease": [{"text": "prostate cancer", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "While-1485 (AT) n exerts significant main effects on the afternoon cortisol level and nocturnal HPA negative feedback, 2051A > C has significant main effects on the morning cortisol level and cortisol response to ACTH challenge, as well as marginally significant main effects on the daytime HPA negative feedback and self-biting rate.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 213, "end": 217}], "disease": [{"text": "self-biting", "start": 317, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that overexpression of SOD1 may affect the PRAS pathway after tFCI by reducing the direct oxidative reaction to pPRAS after reperfusion injury.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 45, "end": 49}], "disease": [{"text": "reperfusion injury", "start": 146, "end": 164}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD1", "start": 45, "end": 49}, "tail": {"text": "reperfusion injury", "start": 146, "end": 164}}]}}, "schema": []}
{"input": "David Norris has proposed a four step model for the pathogenesis of LESSD (1): (1) exposure to UV light induces the release of proinflammaotry epidermal and dermal mediators such as IL-1 and TNF-alpha; (2) these mediators induce changes in epidermal and dermal cells including the induction of adhesion molecules and promotion of the translocation of normally intracellular autoantigen such as Ro/SS-A to the surface of epidermal cells; (3) autoantibody from the circulation binds to autoantigens such as Ro/SS-A that have been translocated to the surface of epidermal keratinocytes and (4) keratinocyte cytotoxicity ensues as the results of lymphoid cells that have been recruited from the circulation recognizing and responding to the Fc domains of autoantibody molecules bound to autoantigen expressed on the surface of keratinocytes (i. e.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 191, "end": 200}], "disease": [{"text": "translocation", "start": 334, "end": 347}]}, "relations": {}}, "schema": []}
{"input": "These results underscore the rapidity with which latent reservoirs are established in primary HIV-1 infection and indicate that it is unlikely that early treatment during primary infection can prevent establishment of a pool of latently infected, resting CD4 (+) T cells as long as treatment is initiated after plasma viremia becomes evident.", "output": {"entities": {"gene": [{"text": "CD4", "start": 255, "end": 258}], "disease": [{"text": "viremia", "start": 318, "end": 325}]}, "relations": {}}, "schema": []}
{"input": "In the PHP group, no statistical associations were found between different allelic distribution and age, creatinine, hematocrit, phosphorus, alkaline phosphatase (ALP), total calcium, serum parathyroid hormone (PTH), or gland weight.", "output": {"entities": {"gene": [{"text": "PTH", "start": 211, "end": 214}], "disease": [{"text": "weight", "start": 226, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "The recently identified aspartate protease gene ALP56 is up-regulated in human malignant tumors, including colorectal cancers, but the relationship remain unclear between ALP56 gene expression and clinicopathological findings, as well as when genetic alterations in ALP56 occur during the colorectal adenoma-carcinoma sequence.", "output": {"entities": {"gene": [{"text": "ALP56", "start": 48, "end": 53}], "disease": [{"text": "carcinoma", "start": 308, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "We compared the frequency of antiphospholipid antibodies, protein C, protein S, and antithrombin deficiencies, factor V Leiden, prothrombin gene mutation G20210GA, and methylenetetrahydrofolate reductase C677T in 36 patients (23 men, 13 women; mean age, 64. 8 years) with colon ischemia, 18 patients with diverticulitis, and 52 healthy controls.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 168, "end": 203}], "disease": [{"text": "ischemia", "start": 278, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "Thus, pancreatitis risk showed complex inheritance and was highest in individuals who have abnormalities in both the pancreatic ducts (CFTR) and acini (PSTI).", "output": {"entities": {"gene": [{"text": "PSTI", "start": 152, "end": 156}], "disease": [{"text": "abnormalities", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We report here a disease-related variant in the ABCD1 gene in a 19-year-old Tunisian boy with childhood cerebral adrenoleukodystrophy.", "output": {"entities": {"gene": [{"text": "ABCD1", "start": 48, "end": 53}], "disease": [{"text": "adrenoleukodystrophy", "start": 113, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCD1", "start": 48, "end": 53}, "tail": {"text": "adrenoleukodystrophy", "start": 113, "end": 133}}]}}, "schema": []}
{"input": "The expression of RANTES mRNA was significantly elevated in the atopic asthmatic group as compared to the atopic nonasthmatic controls (p = 0. 013) and the nonatopic nonasthmatic controls (p = 0. 007).", "output": {"entities": {"gene": [{"text": "RANTES", "start": 18, "end": 24}], "disease": [{"text": "atopic", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In addition, we find a significant positive correlation between GCPII and mGluR3 mRNA in the CA3 of the control AH (r = 0. 66, p = 0. 008) which is not present in schizophrenia (r = 0. 096, p = 0. 76).", "output": {"entities": {"gene": [{"text": "GCPII", "start": 64, "end": 69}], "disease": [{"text": "schizophrenia", "start": 163, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GCPII", "start": 64, "end": 69}, "tail": {"text": "schizophrenia", "start": 163, "end": 176}}]}}, "schema": []}
{"input": "BRM and BRG1 subunits of the SWI/SNF chromatin remodelling complex are downregulated upon progression of benign skin lesions into invasive tumours.", "output": {"entities": {"gene": [{"text": "BRG1", "start": 8, "end": 12}], "disease": [{"text": "skin lesions", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The level of SRIF in the SME was lower and the plasma concentration of GH was higher in the depression-model group than in the other groups.", "output": {"entities": {"gene": [{"text": "GH", "start": 71, "end": 73}], "disease": [{"text": "depression", "start": 92, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GH", "start": 71, "end": 73}, "tail": {"text": "depression", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women.", "output": {"entities": {"gene": [{"text": "CER1 gene", "start": 0, "end": 9}], "disease": [{"text": "bone mineral density", "start": 37, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Our findings show an important role for p53 in the progression of SBOT to an invasive carcinoma, and suggest that downregulation of E-cadherin by DNMT1-mediated promoter methylation contributes to this process.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 146, "end": 151}], "disease": [{"text": "invasive carcinoma", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "CXCL1, which was responsible for hemangioendothelioma progression by stimulating angiogenesis, was impaired by endostatin via inactivation of NF-κB in an animal model.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 142, "end": 147}], "disease": [{"text": "hemangioendothelioma", "start": 33, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.", "output": {"entities": {"gene": [{"text": "GHBP", "start": 116, "end": 120}], "disease": [{"text": "autism", "start": 14, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GHBP", "start": 116, "end": 120}, "tail": {"text": "autism", "start": 14, "end": 20}}]}}, "schema": []}
{"input": "This study aims to report the willingness of different populations of high-risk couples to undergo preimplantation genetic diagnosis (PGD) for beta-thalassaemia as an alternative to prenatal genetic diagnosis (PND), and the willingness of infertile couples to undergo PGD for aneuploidies.", "output": {"entities": {"gene": [{"text": "PND", "start": 210, "end": 213}], "disease": [{"text": "infertile", "start": 239, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Activation of the aryl hydrocarbon receptor suppresses sensitization in a mouse peanut allergy model.", "output": {"entities": {"gene": [{"text": "aryl hydrocarbon receptor", "start": 18, "end": 43}], "disease": [{"text": "peanut allergy", "start": 80, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "aryl hydrocarbon receptor", "start": 18, "end": 43}, "tail": {"text": "peanut allergy", "start": 80, "end": 94}}]}}, "schema": []}
{"input": "Expression analyses of fibrosis, pancreatitis, or desmoplasia associated markers (α-SMA, Shh, COX-2, Muc6, Col1a1, and Ctgf) were performed by IHC and/or qRT-PCR.", "output": {"entities": {"gene": [{"text": "Col1a1", "start": 107, "end": 113}], "disease": [{"text": "pancreatitis", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Gel mobility-shift analysis of nuclear extracts from hypoxia-exposed cells showed an increase in AP-1 binding activity.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 97, "end": 101}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In order to evaluate the role of the NF2 gene in sporadic meningiomas, we analyzed the entire coding regions of the NF2 gene in a group of 42 sporadic meningiomas: 17 meningothelial, 11 transitional, 11 fibrous, one secretory, one atypical, and one malignant subtype, using denaturing high-performance liquid chromatography (DHPLC) and sequence analysis.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 37, "end": 45}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We now report that c-FLIP (L) transgenic (Tg) mice develop splenomegaly, lymphadenopathy, multiorgan infiltration, high titers of auto-antibodies, and proliferative glomerulonephritis with immune complex deposition in a strain-dependent manner.", "output": {"entities": {"gene": [{"text": "FLIP", "start": 21, "end": 25}], "disease": [{"text": "proliferative glomerulonephritis", "start": 151, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We have screened the 43 exons of the FAA gene and their flanking intronic sequences in 38 Italian FA patients, using RNA-SSCP.", "output": {"entities": {"gene": [{"text": "FAA", "start": 37, "end": 40}], "disease": [{"text": "FA", "start": 37, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAA", "start": 37, "end": 40}, "tail": {"text": "FA", "start": 37, "end": 39}}]}}, "schema": []}
{"input": "A prevailing hypothesis for the mechanism of the toxicity of fALS-SOD1 variants, or the gain of toxic function, involves dimer destabilization and dissociation as an early step in SOD1 aggregation.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 66, "end": 70}], "disease": [{"text": "dissociation", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We propose that sporadic intramedullary ependymomas should also be analyzed for this region of NF2 gene.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 95, "end": 103}], "disease": [{"text": "sporadic", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The group of 103 patients showed higher median values of FVIII than 206 controls [FVIII: Ag, 115 versus 96 IU/dL, P < 0. 0001; FVIII: C, 119 versus 106 IU/dL, P = 0. 0009], and had a significantly increased odds ratio (OR) for fibrinogen-adjusted elevated FVIII levels [FVIII > 90th percentile versus values below the cut-off: FVIII: Ag, OR 4. 3, 95% confidence interval (CI) 1. 5 to 12. 1; FVIII: C, OR 5. 5, CI 2. 03 to 15. 06].", "output": {"entities": {"gene": [{"text": "FVIII", "start": 57, "end": 62}], "disease": [{"text": "fibrinogen", "start": 227, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "cytochrome P450c17", "start": 54, "end": 72}], "disease": [{"text": "17 alpha-hydroxylase deficiency", "start": 87, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cytochrome P450c17", "start": 54, "end": 72}, "tail": {"text": "17 alpha-hydroxylase deficiency", "start": 87, "end": 118}}]}}, "schema": []}
{"input": "Our results support the concept that RER + and RER-colorectal cancers represent different pathways of carcinogenesis and may give a hint for clarifying the specific mechanism of DCC inactivation in RER-colorectal cancers.", "output": {"entities": {"gene": [{"text": "RER", "start": 37, "end": 40}], "disease": [{"text": "carcinogenesis", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Sixty-seven patients with GPL confirmed by gastroscopy and pathology were studied, including 39 cases of moderate gastric mucosal dysplasia, 19 cases of severe gastric mucosa dysplasia, 9 cases of incomplete colon metaplasia.", "output": {"entities": {"gene": [{"text": "GPL", "start": 26, "end": 29}], "disease": [{"text": "metaplasia", "start": 214, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "We screened 556 infertile patients and 487 normozoospermic controls for partial AZFc deletions with a combined method based on STS +/-followed by CDY1-DAZ gene dosage and copy analysis.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 151, "end": 154}], "disease": [{"text": "infertile", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "As a whole, our results do not support a clear role of FAAH, CNR1 and NAPE-PLD in BD and lithium response.", "output": {"entities": {"gene": [{"text": "CNR1", "start": 61, "end": 65}], "disease": [{"text": "BD", "start": 82, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNR1", "start": 61, "end": 65}, "tail": {"text": "BD", "start": 82, "end": 84}}]}}, "schema": []}
{"input": "Copy number of DAZ genes in infertile men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 15, "end": 18}], "disease": [{"text": "infertile", "start": 28, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.", "output": {"entities": {"gene": [{"text": "CASQ1", "start": 0, "end": 5}], "disease": [{"text": "tubular aggregate myopathy", "start": 62, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASQ1", "start": 0, "end": 5}, "tail": {"text": "tubular aggregate myopathy", "start": 62, "end": 88}}]}}, "schema": []}
{"input": "We report the analysis of the role of one of the known DNA repair systems, nucleotide excision repair (NER), in somatic mutation.", "output": {"entities": {"gene": [{"text": "NER", "start": 103, "end": 106}], "disease": [{"text": "somatic mutation", "start": 112, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The contribution of PML to mutant p53 driven cancer was evaluated in a mouse model harboring a p53 mutation (p53 (wild-type/R172H)) that recapitulates a frequent p53 mutation (p53 (R175H)) in human sporadic and Li-Fraumeni cancers.", "output": {"entities": {"gene": [{"text": "p53", "start": 34, "end": 37}], "disease": [{"text": "sporadic", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "High OPG expression was found in 1 of 6 primary glioma cell cultures and in 1 of 12 established glioma cell lines, T98G.", "output": {"entities": {"gene": [{"text": "OPG", "start": 5, "end": 8}], "disease": [{"text": "glioma", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The increased insulin secretion may compensate for hepatic insulin resistance possibly mediated by elevated GIP secretion.", "output": {"entities": {"gene": [{"text": "GIP", "start": 108, "end": 111}], "disease": [{"text": "insulin resistance", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These studies indicate that IL-13 induces AD and atopic march via a TSLP dependent mechanism.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 28, "end": 33}], "disease": [{"text": "atopic", "start": 49, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 203, "end": 207}], "disease": [{"text": "CMTX", "start": 26, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cx32", "start": 203, "end": 207}, "tail": {"text": "CMTX", "start": 26, "end": 30}}]}}, "schema": []}
{"input": "Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.", "output": {"entities": {"gene": [{"text": "TRAF3", "start": 6, "end": 11}], "disease": [{"text": "herpes simplex encephalitis", "start": 110, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRAF3", "start": 6, "end": 11}, "tail": {"text": "herpes simplex encephalitis", "start": 110, "end": 137}}]}}, "schema": []}
{"input": "With this system, we observed that overexpression of FAS in obese rat adipocytes was ADD1/SREBP-dependent.", "output": {"entities": {"gene": [{"text": "ADD1", "start": 85, "end": 89}], "disease": [{"text": "obese", "start": 60, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Similarly, liver fibrosis was significantly reduced in PAR-1 (-/-) mice fed an ANIT diet.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 55, "end": 60}], "disease": [{"text": "liver fibrosis", "start": 11, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAR-1", "start": 55, "end": 60}, "tail": {"text": "liver fibrosis", "start": 11, "end": 25}}]}}, "schema": []}
{"input": "Inhibition of myosin light chain kinase reduces brain edema formation after traumatic brain injury.", "output": {"entities": {"gene": [{"text": "myosin light chain kinase", "start": 14, "end": 39}], "disease": [{"text": "brain edema", "start": 48, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myosin light chain kinase", "start": 14, "end": 39}, "tail": {"text": "brain edema", "start": 48, "end": 59}}]}}, "schema": []}
{"input": "The prevalence of IgG anti-UACA antibodies in patients with uveitis is significantly higher than healthy controls, suggesting its potential role as an autoantigen.", "output": {"entities": {"gene": [{"text": "UACA", "start": 27, "end": 31}], "disease": [{"text": "uveitis", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The mutation we have identified in gene OS-9 might therefore participate in the oncogenic process by affecting the function of this potential tumor-suppressor gene.", "output": {"entities": {"gene": [{"text": "OS-9", "start": 40, "end": 44}], "disease": [{"text": "tumor", "start": 142, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Plasma LPA level and serum ATX activity were increased in carbon tetrachloride-induced liver fibrosis correlatively with fibrosis grade, in dimethylnitrosamine-induced acute liver injury correlatively with serum alanine aminotransferase level or in 70% hepatectomy as early as 3 h after the operation.", "output": {"entities": {"gene": [{"text": "LPA", "start": 7, "end": 10}], "disease": [{"text": "fibrosis", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The combination of cytology and FISH using the three-probe set for chromosomes 3 + 7 + 8 significantly improved the sensitivity of bronchial brushing examination for lung cancer detection (P = 0. 00003), especially squamous cell carcinoma (SCC), which increased from 78. 0 to 98. 2%.", "output": {"entities": {"gene": [{"text": "FISH", "start": 32, "end": 36}], "disease": [{"text": "squamous cell carcinoma", "start": 215, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Decreased barrier function suggests that defects in the epithelium may represent the primary source of SAMP ileitis susceptibility.", "output": {"entities": {"gene": [{"text": "SAMP", "start": 103, "end": 107}], "disease": [{"text": "ileitis", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine & #946;-hydroxylase, much more expressed in tumor tissue.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 128, "end": 148}], "disease": [{"text": "PHEO", "start": 78, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine hydroxylase", "start": 128, "end": 148}, "tail": {"text": "PHEO", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "Sequencing showed a CGT--> TGT missense mutation (R280C) in exon 7, previously reported to cause EEC in four families, and ectrodactyly alone (split hand-foot malformation) in one sporadic case and one large kindred.", "output": {"entities": {"gene": [{"text": "TGT", "start": 27, "end": 30}], "disease": [{"text": "sporadic", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that SOD1 protects retinal cells against paraquat-and hyperoxia-induced oxidative damage and suggest that overexpression of SOD1 should be considered as one component of ocular gene therapy to prevent oxidative damage-induced retinal degeneration.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 28, "end": 32}], "disease": [{"text": "retinal degeneration", "start": 249, "end": 269}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD1", "start": 28, "end": 32}, "tail": {"text": "retinal degeneration", "start": 249, "end": 269}}]}}, "schema": []}
{"input": "However, vaspin mRNA decreased with worsening of diabetes and body weight loss.", "output": {"entities": {"gene": [{"text": "vaspin", "start": 9, "end": 15}], "disease": [{"text": "body weight", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We also found increased expression of HIF-1 & #945; and LDHA mRNA in MDD patients in a remissive state, whereas the mRNA expression levels of other genes in a remissive state were comparable to those in healthy control subjects.", "output": {"entities": {"gene": [{"text": "LDHA", "start": 56, "end": 60}], "disease": [{"text": "MDD", "start": 69, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LDHA", "start": 56, "end": 60}, "tail": {"text": "MDD", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "Using either hapten or ovarian carcinoma-specific monoclonal antibodies, we constructed chimeric receptor genes and retrovirally introduced them into CD8 + TIL.", "output": {"entities": {"gene": [{"text": "TIL", "start": 156, "end": 159}], "disease": [{"text": "ovarian carcinoma", "start": 23, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four sporadic colorectal adenomas were analysed for the presence of allelic loss on the short arm of chromosome 17 as well as mutations in the K-ras and p53 genes.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 160, "end": 169}], "disease": [{"text": "sporadic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The cellular expression of TNP1 mRNA in spermatids was quantified by in situ hybridisation on paraffin sections of testis biopsies from 21 men with obstructive azoospermia and 23 men with non-obstructive azoospermia.", "output": {"entities": {"gene": [{"text": "TNP1", "start": 27, "end": 31}], "disease": [{"text": "obstructive azoospermia", "start": 148, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Fundus imaging demonstrated that R172W mice developed severe clinical signs of disease nearly identical to those seen in human MD patients, including retinal degeneration, retinal pigment epithlium (RPE) defects and loss of the choriocapillaris.", "output": {"entities": {"gene": [{"text": "RPE", "start": 199, "end": 202}], "disease": [{"text": "retinal degeneration", "start": 150, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "About half the HCCs with AXIN1 or AXIN2 mutations showed beta-catenin accumulation in the nucleus, cytoplasm or membrane.", "output": {"entities": {"gene": [{"text": "AXIN1", "start": 25, "end": 30}], "disease": [{"text": "HCC", "start": 15, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AXIN1", "start": 25, "end": 30}, "tail": {"text": "HCC", "start": 15, "end": 18}}]}}, "schema": []}
{"input": "Because of the importance of NEDD4L to Na + balance, many of these studies have proposed that mutations in NEDD4L may be responsible for these blood pressure phenotypes.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 29, "end": 35}], "disease": [{"text": "blood pressure", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We used a panel of behavioral assays to assess TNFR1 (-/-) and TNFR2 (-/-) mice for anxiety and depression-like behaviors.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 47, "end": 52}], "disease": [{"text": "depression", "start": 96, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFR1", "start": 47, "end": 52}, "tail": {"text": "depression", "start": 96, "end": 106}}]}}, "schema": []}
{"input": "Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.", "output": {"entities": {"gene": [{"text": "CDH11", "start": 29, "end": 34}], "disease": [{"text": "Elsahy-Waters syndrome", "start": 60, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDH11", "start": 29, "end": 34}, "tail": {"text": "Elsahy-Waters syndrome", "start": 60, "end": 82}}]}}, "schema": []}
{"input": "These findings with ADCY8 and ST3GAL1 warrant further investigation in order to confirm the observed associations and their functional significance for BP susceptibility.", "output": {"entities": {"gene": [{"text": "ADCY8", "start": 20, "end": 25}], "disease": [{"text": "BP", "start": 152, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADCY8", "start": 20, "end": 25}, "tail": {"text": "BP", "start": 152, "end": 154}}]}}, "schema": []}
{"input": "Corticosteroid-induced kidney dysmorphogenesis is associated with deregulated expression of known cystogenic molecules, as well as Indian hedgehog.", "output": {"entities": {"gene": [{"text": "Indian hedgehog", "start": 131, "end": 146}], "disease": [{"text": "dysmorphogenesis", "start": 30, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Among the significantly regulated miRs, the increased expression of miR-29 family members was associated with a profound downregulation of numerous extracellular matrix (ECM) components in aortas of aged mice, suggesting that this miR family contributes to ECM loss, thereby sensitizing the aorta for aneurysm formation.", "output": {"entities": {"gene": [{"text": "ECM", "start": 170, "end": 173}], "disease": [{"text": "aneurysm", "start": 301, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "This study examined whether variation in exonic and flanking sequences of the human HLA-F adjacent transcript 10 (FAT10) gene might be associated with susceptibility and clinicopathological development of hapatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HLA-F", "start": 84, "end": 89}], "disease": [{"text": "carcinoma", "start": 220, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3.", "output": {"entities": {"gene": [{"text": "TMEM43", "start": 100, "end": 106}], "disease": [{"text": "sudden cardiac death", "start": 79, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMEM43", "start": 100, "end": 106}, "tail": {"text": "sudden cardiac death", "start": 79, "end": 99}}]}}, "schema": []}
{"input": "This study paves the way for an alternative gene therapy treatment of status epilepticus, and provides the rationale for studies of AAV-TREK-M' s effect on spontaneous seizures in chronic models of temporal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "AAV", "start": 132, "end": 135}], "disease": [{"text": "temporal lobe epilepsy", "start": 198, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.", "output": {"entities": {"gene": [{"text": "ABHD12", "start": 37, "end": 43}], "disease": [{"text": "PHARC", "start": 55, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABHD12", "start": 37, "end": 43}, "tail": {"text": "PHARC", "start": 55, "end": 60}}]}}, "schema": []}
{"input": "In addition to a number of established ischemia-related genes, many genes not previously implicated in transient focal ischemia-induced brain damage [suppressor of cytokine signaling (SOCS)-3, cAMP responsive element modulator (CREM), cytosolic retinol binding protein (CRBP), silencer factor-B, survival motor neuron (SMN), interferon-gamma regulatory factor-1 (IRF-1), galanin, neurotrimin, proteasome subunit RC8, synaptosomal-associated protein (SNAP)-25 A and B, synapsin 1a, neurexin 1-beta, ras-related rab3, vesicular GABA transporter (VGAT), digoxin carrier protein, neuronal calcium sensor-1 and neurodap] were observed to be altered in the ischemic cortex.", "output": {"entities": {"gene": [{"text": "neurexin 1", "start": 481, "end": 491}], "disease": [{"text": "ischemia", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Hypothesizing that iron restriction improved her symptoms by decreasing ALAS2 activity and subsequent porphyrin production, we treated the patient with off-label use of deferasirox to maintain iron deficiency, with successful results.", "output": {"entities": {"gene": [{"text": "ALAS2", "start": 72, "end": 77}], "disease": [{"text": "iron deficiency", "start": 193, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results support the idea that modulation of RAD9A and other cell cycle arrest and DNA repair proteins contribute to the risk of developing a second malignancy in childhood cancer patients.", "output": {"entities": {"gene": [{"text": "RAD9A", "start": 62, "end": 67}], "disease": [{"text": "second malignancy", "start": 159, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAD9A", "start": 62, "end": 67}, "tail": {"text": "second malignancy", "start": 159, "end": 176}}]}}, "schema": []}
{"input": "TRIM37 transcript was found in all sporadic fibrothecomas examined, but 80% (20/25) of the tumors showed reduced or absent expression of TRIM37 protein.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 0, "end": 6}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Notably, the regeneration of the CD4 (+) subset was associated with regeneration of the naive T-cell population and was concordant with clearance of plasma viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 33, "end": 36}], "disease": [{"text": "viremia", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Most MYBPC3 mutations may cause haploinsufficiency and with it they may cause a primary increase in calcium sensitivity which is potentially able to explain major features observed in HCM patients such as the hypercontractile phenotype and the well known secondary effects such as myofibrillar disarray, fibrosis, myocardial hypertrophy and remodelling including arrhythmogenesis.", "output": {"entities": {"gene": [{"text": "MYBPC3", "start": 5, "end": 11}], "disease": [{"text": "fibrosis", "start": 304, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into the role of IF proteins in podocytes, we investigated the expression of nestin, vimentin, and desmin in puromycin aminonucleoside (PAN) nephrosis.", "output": {"entities": {"gene": [{"text": "desmin", "start": 115, "end": 121}], "disease": [{"text": "nephrosis", "start": 157, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "desmin", "start": 115, "end": 121}, "tail": {"text": "nephrosis", "start": 157, "end": 166}}]}}, "schema": []}
{"input": "Marked changes in the expression of the tachykinin peptide neurokinin B (NKB) have been recently observed in animal models of epilepsy.", "output": {"entities": {"gene": [{"text": "NKB", "start": 73, "end": 76}], "disease": [{"text": "epilepsy", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In lung cancer patients high serum miR10b values associated with lymph node metastasis (p < 0. 03) and elevated levels of TPA (tissue polypeptide antigen, p = 0. 01), whereas high serum miR141 values associated with elevated levels of uPA (urokinase plasminogen activator, p = 0. 02).", "output": {"entities": {"gene": [{"text": "TPA", "start": 122, "end": 125}], "disease": [{"text": "lymph node metastasis", "start": 65, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "IL-4 mRNA was detected more frequently, while IL-12 mRNA expression was lower, in the preterm labor group than in the term labor group.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "preterm labor", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The authors evaluated the TP53 and KRAS2 genes for mutations in sporadic endometrial carcinomas with microsatellite instability (MSI) and matched MSI negative controls to determine whether defective DNA mismatch repair impacts the patterns of mutations in two genes known to be involved in endometrial tumorigenesis.", "output": {"entities": {"gene": [{"text": "TP53", "start": 26, "end": 30}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Epidermodysplasia verruciformis (EV) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (HPV) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER1 or EVER2.", "output": {"entities": {"gene": [{"text": "EVER1", "start": 230, "end": 235}], "disease": [{"text": "genodermatosis", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We also found that a demethylating agent, 5-aza-2'-deoxycytidine, could enhance PEPP2 expression in leukemia cells but not in blood mononuclear cells from healthy donors.", "output": {"entities": {"gene": [{"text": "PEPP2", "start": 80, "end": 85}], "disease": [{"text": "leukemia", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to test the hypothesis that germline or somatic mutations of BRCA2 are associated with hereditary and/or sporadic ovarian cancers, respectively.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 91, "end": 96}], "disease": [{"text": "sporadic", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In expanding keratoacanthoma there was little expression of p27 (kip) in nuclei of atypical keratinocytes composing the tumor (1. 25 +/-2. 1 labeled cells per high-power field); in regressing keratoacanthoma the nuclei of most suprabasilar keratinocytes in atypical tumor aggregates contained p27 (kip) (55. 1 +/-28. 6 labeled cells per high-power field).", "output": {"entities": {"gene": [{"text": "p27", "start": 60, "end": 63}], "disease": [{"text": "keratoacanthoma", "start": 13, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Among genes markedly and equally over-expressed in carcinomas of both the aggressive and classic PtC groups, compared to normal thyroid tissue, were CBP/p300 transactivator (CItED1), fibronectin, growth/differentiation factor 15, potassium inwardly rectifying channel KCNJ2, glutaminyl peptide cyclotransferase, WNT7A, and dipeptidyl peptidase IV.", "output": {"entities": {"gene": [{"text": "CItED1", "start": 174, "end": 180}], "disease": [{"text": "carcinomas", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Fifty male subjects were included in this study: 30 infertile men with idiopathic severe OAT and 20 healthy fertile men as controls.", "output": {"entities": {"gene": [{"text": "OAT", "start": 89, "end": 92}], "disease": [{"text": "infertile", "start": 52, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.", "output": {"entities": {"gene": [{"text": "WISP1", "start": 54, "end": 59}], "disease": [{"text": "neurofibromatosis type 1", "start": 79, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 40, "end": 44}], "disease": [{"text": "Best disease", "start": 94, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 40, "end": 44}, "tail": {"text": "Best disease", "start": 94, "end": 106}}]}}, "schema": []}
{"input": "Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway.", "output": {"entities": {"gene": [{"text": "PI3", "start": 362, "end": 365}], "disease": [{"text": "epidermal nevi", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "We report a case of a 9 year-old boy with leukemic presentation of ALCL with the typical translocation t (2; 5) (p23; q35); in this patient, the only positive antigens identified by immunophenotyping were CD13, NG2 HLA-DR, and CD38.", "output": {"entities": {"gene": [{"text": "CD13", "start": 205, "end": 209}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Reduced NIS gene expression in thyroid cancer is likely due in part, to impaired trans-activation at the proximal promoter and/or the upstream enhancer.", "output": {"entities": {"gene": [{"text": "NIS", "start": 8, "end": 11}], "disease": [{"text": "thyroid cancer", "start": 31, "end": 45}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NIS", "start": 8, "end": 11}, "tail": {"text": "thyroid cancer", "start": 31, "end": 45}}]}}, "schema": []}
{"input": "Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.", "output": {"entities": {"gene": [{"text": "kindlin-1", "start": 8, "end": 17}], "disease": [{"text": "Kindler syndrome", "start": 123, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "kindlin-1", "start": 8, "end": 17}, "tail": {"text": "Kindler syndrome", "start": 123, "end": 139}}]}}, "schema": []}
{"input": "Neither of these inhibitors, however, affected tumor necrosis factor alpha, prostaglandin E2 or epinephrine hyperalgesia.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor alpha", "start": 47, "end": 74}], "disease": [{"text": "hyperalgesia", "start": 108, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor alpha", "start": 47, "end": 74}, "tail": {"text": "hyperalgesia", "start": 108, "end": 120}}]}}, "schema": []}
{"input": "METHODS: The expression of MYH, MSH2, MLH1, and MSH6 proteins was studied by immunohistochemistry in 20 samples (colorectal adenomas or cancer) from 18 patients with biallelic MYH mutation, in 11 samples from patients with germline adenomatous polyposis coli (APC) mutations, in 20 samples from patients with sporadic colorectal cancers, and in 10 samples from patients with normal colonic mucosa without malignancies.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 32, "end": 36}], "disease": [{"text": "sporadic", "start": 309, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "The missense mutation reported here suggests that the BRCA2 domain including and surrounding glycine 2901 may be more important in preventing neoplastic transformation in ovarian epithelium than in breast epithelium.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 54, "end": 59}], "disease": [{"text": "neoplastic transformation", "start": 142, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Asparagine synthetase (ASNS) is deemed to be a promising therapeutic target for the treatment of several cancers, but its functional role in human breast cancer is still unknown.", "output": {"entities": {"gene": [{"text": "ASNS", "start": 23, "end": 27}], "disease": [{"text": "cancers", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "This is important in NP because NF-kappaB can induce the transcription of cytokines, chemokines and adhesion molecules, which play an important role in the inflammatory process.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 32, "end": 41}], "disease": [{"text": "adhesion", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Rats injected with interleukin-1 (10 micrograms) and tumor necrosis factor (10 micrograms) and then exposed continuously to hyperoxia (greater than 99% O2, 1 atm) survived longer, had increased lung reduced/oxidized glutathione ratios, smaller pleural effusions, less pulmonary hypertension and improved arterial blood gases.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 53, "end": 74}], "disease": [{"text": "pleural effusions", "start": 244, "end": 261}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tumor necrosis factor", "start": 53, "end": 74}, "tail": {"text": "pleural effusions", "start": 244, "end": 261}}]}}, "schema": []}
{"input": "No correlation was seen between CaR mRNA in the adenoma and preoperative serum calcium, PTH, or weight of the adenoma.", "output": {"entities": {"gene": [{"text": "PTH", "start": 88, "end": 91}], "disease": [{"text": "weight", "start": 96, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "LPL-deficient mice with severe hypertriglyceridaemia display enhanced susceptibility to acute pancreatitis.", "output": {"entities": {"gene": [{"text": "LPL", "start": 0, "end": 3}], "disease": [{"text": "acute pancreatitis", "start": 88, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "For secondary VTE, a Q360H apolipoprotein A4 gene polymorphism (OR, 0. 34; 95% CI, 0. 18 to 0. 65; P = 0. 001; FDR, P = 0. 07) and an I50V interleukin-4 receptor polymorphism (OR, 0. 66; 95% CI, 0. 52 to 0. 84; P = 0. 0009; FDR, P = 0. 07) were moderately, but not statistically and significantly, associated with reduced risk after adjustment for multiple comparisons.", "output": {"entities": {"gene": [{"text": "apolipoprotein A4 gene", "start": 27, "end": 49}], "disease": [{"text": "secondary", "start": 4, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Genetic and immunohistochemical studies of available tumors were then carried out to confirm SDHD-related tumorigenesis.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 93, "end": 97}], "disease": [{"text": "tumorigenesis", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The association of genes from the RANK/RANKL/OPG pathway and BMDC provides new insight into how this system might affect the skeleton, confirming it to be associated with volumetric cortical bone density but observing no relationship with bone size.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 39, "end": 44}], "disease": [{"text": "bone density", "start": 191, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that inhibitors of the IGF/PI3K/mTOR pathway may be promising novel therapies for these fatal embryonal tumors.", "output": {"entities": {"gene": [{"text": "IGF", "start": 45, "end": 48}], "disease": [{"text": "embryonal tumors", "start": 116, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "When arterial medial calcification was induced in PiT-1 (Δsm) and PiT-1 (flox/flox) by chronic kidney disease followed by dietary phosphate loading, the degree of aortic calcification was not different between genotypes, suggesting compensation by PiT-2.", "output": {"entities": {"gene": [{"text": "PiT-2", "start": 248, "end": 253}], "disease": [{"text": "aortic calcification", "start": 163, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "The absence of TLR2, MyD88, and MyD88xTrif conferred both physiologic and histologic protection against sublethal ischemia at 24 h. Interestingly, TLR2-deficient mice were better protected from ischemic renal injury than those deficient for the adapter protein MyD88, raising the intriguing possibility that TLR-2-dependent/MyD88-independent pathways also contribute to kidney injury.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 15, "end": 19}], "disease": [{"text": "ischemia", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Increased CCR2 was observed in the hippocampus after SE.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 10, "end": 14}], "disease": [{"text": "SE", "start": 53, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR2", "start": 10, "end": 14}, "tail": {"text": "SE", "start": 53, "end": 55}}]}}, "schema": []}
{"input": "c-di-GMP turn-over in Clostridium difficile is controlled by a plethora of diguanylate cyclases and phosphodiesterases.", "output": {"entities": {"gene": [{"text": "GMP", "start": 5, "end": 8}], "disease": [{"text": "plethora", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A tight linkage between generalized resistance to thyroid hormone (GRTH) and the thyroid hormone receptor-beta (TR beta) gene is indicated.", "output": {"entities": {"gene": [{"text": "thyroid hormone receptor-beta", "start": 81, "end": 110}], "disease": [{"text": "GRTH", "start": 67, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "thyroid hormone receptor-beta", "start": 81, "end": 110}, "tail": {"text": "GRTH", "start": 67, "end": 71}}]}}, "schema": []}
{"input": "CD4 (+) T lymphocytes were the predominant infiltrate cell subset present in gingival tissues of periodontitis patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "periodontitis", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In vivo: T beta RII immunolocalization in liver tissues was significantly decreased in patients with HCC compared with that of patients with chronic hepatitis or liver cirrhosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 101, "end": 104}], "disease": [{"text": "chronic hepatitis", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Ten genes (LPA, NOX3, SNX9, VIL2, VIP, ADAM8, DOCK1, FANK1, GPR123 and PTPRE) were selected for a subsequent association study performed in a large SLSJ sample (n = 1167) of individuals tested for asthma and atopy related phenotypes.", "output": {"entities": {"gene": [{"text": "PTPRE", "start": 71, "end": 76}], "disease": [{"text": "atopy", "start": 208, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Blood levels of homocysteine, factor VIII, and fibrinogen were significantly higher and factor II levels were significantly lower in hemodialysis patients than in controls, whereas factor VII, factor IX, and natural coagulation inhibitor levels were similar in patients and controls.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 30, "end": 41}], "disease": [{"text": "fibrinogen", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Compared with the control diet, the HM/LF diet diminished endothelium-dependent dilation to 10 micromol/L acetylcholine in cerebral arterioles of both wild-type (12 + or-2 versus 29 + or-3%; P < 0. 001) and DDAH1 Tg (14 + or-3 versus 28 + or-2%; P < 0. 001) mice.", "output": {"entities": {"gene": [{"text": "DDAH1", "start": 207, "end": 212}], "disease": [{"text": "dilation", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The association between 82 common single nucleotide polymorphisms (SNPs) in six lipid-related or statin-related genes (ABCB1, CETP, HMGCR, LDLR, LIPC, NOS3) and incident nonfatal myocardial infarction (MI) and ischemic stroke was analyzed according to current statin use and overall in a population-based case-control study (856 MI, 368 stroke, 2686 controls).", "output": {"entities": {"gene": [{"text": "NOS3", "start": 151, "end": 155}], "disease": [{"text": "stroke", "start": 219, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We have studied two tissue microarrays that include 103 familial and 104 sporadic breast tumors, with a panel of DNA repair markers including ATM, CHEK2, RAD51, RAD50, XRCC3, and proliferating cell nuclear antigen.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 147, "end": 152}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Serum positivity and level of HP-NAP-specific antibodies in sera from 43 patients with gastric cancer, 28 with chronic gastritis, 28 with peptic ulcer, and 89 healthy controls were measured by rHP-NAP-based ELISA.", "output": {"entities": {"gene": [{"text": "NAP", "start": 33, "end": 36}], "disease": [{"text": "peptic ulcer", "start": 138, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We suggest that in addition to the inactivation of the ARF-MDM-2-p53 protective checkpoint function other antiapoptotic mutations may occur in a substantial part of children with sporadic BL.", "output": {"entities": {"gene": [{"text": "p53", "start": 65, "end": 68}], "disease": [{"text": "sporadic", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, SHP partially protects FXR (-/-) mice from HCC formation by reducing tumor malignancy.", "output": {"entities": {"gene": [{"text": "SHP", "start": 15, "end": 18}], "disease": [{"text": "HCC", "start": 58, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SHP", "start": 15, "end": 18}, "tail": {"text": "HCC", "start": 58, "end": 61}}]}}, "schema": []}
{"input": "Human ovarian cancer, cell lines, and primary ascites cells express the human Mullerian inhibiting substance (MIS) Type II Receptor, bind, and are responsive to MIS.", "output": {"entities": {"gene": [{"text": "MIS", "start": 110, "end": 113}], "disease": [{"text": "ascites", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Genetic deletion of mTOR complex 1 (mTORC1) in mouse podocytes induced proteinuria and progressive glomerulosclerosis.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 36, "end": 42}], "disease": [{"text": "proteinuria", "start": 71, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "There was selective expression in paraffin-embedded sections of alpha B-crystallin (CRYA2) in oligodendroglia in all areas of the nervous system examined.", "output": {"entities": {"gene": [{"text": "CRYA2", "start": 84, "end": 89}], "disease": [{"text": "nervous system", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Importantly, in using either transiently silenced ATR cells, cells expressing an inactive form of ATR or cells exposed to an ATR inhibitor (CGK733), we demonstrate that hypoxic ATR activation positively regulates the key transcription factor HIF-1 independently of the checkpoint kinase Chk1.", "output": {"entities": {"gene": [{"text": "Chk1", "start": 287, "end": 291}], "disease": [{"text": "hypoxic", "start": 169, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "We suggest that in adolescent girls with primary amenorrhea, müllerian duct abnormalities, and hyperandrogenism, a WNT4 mutation should be sought.", "output": {"entities": {"gene": [{"text": "WNT4", "start": 115, "end": 119}], "disease": [{"text": "abnormalities", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "nm23, a tumor metastasis suppressor gene, has been linked to protection against tumorigenesis and tumor metastasis.", "output": {"entities": {"gene": [{"text": "nm23", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to evaluate the effects of partial sleep deprivation (PSD) on circulating concentrations of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α) in relation to the secretory profiles of growth hormone (GH), cortisol, and testosterone during a repeated brief sprint interval exercise.]", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 176, "end": 181}], "disease": [{"text": "sleep deprivation", "start": 65, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Importantly, Wwox KO mice displayed histopathological and hematological signs of impaired hematopoiesis, leukopenia, and splenic atrophy.", "output": {"entities": {"gene": [{"text": "Wwox", "start": 13, "end": 17}], "disease": [{"text": "leukopenia", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Therefore, a reduced GIP-induced insulin secretion in patients with type 2 diabetes and their first-degree relatives at hyperglycemia is more likely due to a general defect of B-cell function than to a specific defect of the GIP action.", "output": {"entities": {"gene": [{"text": "GIP", "start": 21, "end": 24}], "disease": [{"text": "hyperglycemia", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "A strong correlation between the expression of N-cadherin, vimentin and JAK2/STAT3 levels were detected in high-grade ovarian tumors and was consistent with the previously reported enhanced expression of alpha6 integrin subunit in advanced tumors [Ahmed N, Riley C, Oliva K, Rice G, Quinn M. Ascites induces modulation of alpha6beta1 integrin and urokinase plasminogen activator receptor expression and associated functions in ovarian carcinoma.", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 47, "end": 57}], "disease": [{"text": "ovarian carcinoma", "start": 427, "end": 444}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the induced cyclin E1 and cyclin A2 caused by Pdk4 deficiency was repressed by arsenic treatment in mouse liver and in HCC cells.", "output": {"entities": {"gene": [{"text": "Pdk4", "start": 61, "end": 65}], "disease": [{"text": "HCC", "start": 134, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pdk4", "start": 61, "end": 65}, "tail": {"text": "HCC", "start": 134, "end": 137}}]}}, "schema": []}
{"input": "Genes such as ELTD1 on chromosome 1, in addition to genes on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated with the genetic risk for cannabis use disorders.", "output": {"entities": {"gene": [{"text": "GABRA2", "start": 80, "end": 86}], "disease": [{"text": "cannabis use", "start": 150, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA2", "start": 80, "end": 86}, "tail": {"text": "cannabis use", "start": 150, "end": 162}}]}}, "schema": []}
{"input": "While mutation in a number of genes encoding complex I subunits essentially result in neurological symptoms, this first mutation in NDUFV2 is strikingly associated with cardiomyopathy, as previously observed in the unique case of NDFUS2 mutations.", "output": {"entities": {"gene": [{"text": "NDUFV2", "start": 132, "end": 138}], "disease": [{"text": "neurological symptoms", "start": 86, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "MTP mRNA levels also had an inverse correlation with serum insulin (P =. 0002), homeostasis model assessment-insulin resistance (HOMA-IR) (P =. 005), and body mass index (P =. 02) in patients with HCV-1 and HCV-2 and with serum HCV-RNA (P =. 02) in HCV-3 patients.", "output": {"entities": {"gene": [{"text": "MTP", "start": 0, "end": 3}], "disease": [{"text": "insulin resistance", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of MiR-369-3p suppresses cell migration and proliferation by targeting SOX4 in Hirschsprung' s disease.", "output": {"entities": {"gene": [{"text": "MiR-369", "start": 16, "end": 23}], "disease": [{"text": "Hirschsprung' s disease", "start": 92, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MiR-369", "start": 16, "end": 23}, "tail": {"text": "Hirschsprung' s disease", "start": 92, "end": 115}}]}}, "schema": []}
{"input": "To examine the possible mechanisms leading to high levels of PLTP expression in vivo, we exposed the pre-type II cells to hypoxia and demonstrated induction of PLTP mRNA and a coordinate increase in secreted PLTP activity.", "output": {"entities": {"gene": [{"text": "PLTP", "start": 61, "end": 65}], "disease": [{"text": "hypoxia", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "There were no significant interactions between LIPC and smoking, BMI, or lutein.", "output": {"entities": {"gene": [{"text": "LIPC", "start": 47, "end": 51}], "disease": [{"text": "smoking", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We also found a highly significant association between plasma apolipoprotein B concentration and variation in diastolic pressure but not systolic pressure.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 62, "end": 78}], "disease": [{"text": "systolic pressure", "start": 137, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.", "output": {"entities": {"gene": [{"text": "microsomal glucose-6-phosphate transporter", "start": 76, "end": 118}], "disease": [{"text": "Glycogen storage disease type Ib", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "microsomal glucose-6-phosphate transporter", "start": 76, "end": 118}, "tail": {"text": "Glycogen storage disease type Ib", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "Together, these findings point to the role of HER2-positive exosomes in modulating sensitivity to Trastuzumab, and, consequently, to HER2-driven tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "HER2", "start": 46, "end": 50}], "disease": [{"text": "aggressiveness", "start": 151, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Gene organization in t (14; 16) patients may influence translocation potential of MAF with IGH.", "output": {"entities": {"gene": [{"text": "MAF", "start": 82, "end": 85}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS +) type 2.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 83, "end": 88}], "disease": [{"text": "GEFS +) type 2", "start": 179, "end": 193}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN1A", "start": 83, "end": 88}, "tail": {"text": "GEFS +) type 2", "start": 179, "end": 193}}]}}, "schema": []}
{"input": "To investigate the relationship between the expression of FOXM1, CEP55, and HELLS in oropharyngeal squamous cell carcinoma to human papillomavirus (HPV), smoking, and tumor stage.", "output": {"entities": {"gene": [{"text": "HELLS", "start": 76, "end": 81}], "disease": [{"text": "smoking", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, CD99 expression and EWS/FLI1 translocation are specific and sensitive markers in the diagnosis of ESFTs.", "output": {"entities": {"gene": [{"text": "EWS", "start": 35, "end": 38}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We conducted a population-based study to investigate the relationship between candidate genes for obesity (UCP1, UCP2, ADRA2B, ADRB3, LEPR, VDR and ESR1) and adiposity measures (body mass index, body fat percentage, weight, waist circumference and waist-hip ratio) in terms of individual gene and gene x gene interaction in models unadjusted and adjusted for covariates (age, years since menopause, educational level and total energy intake).", "output": {"entities": {"gene": [{"text": "UCP2", "start": 113, "end": 117}], "disease": [{"text": "body fat percentage", "start": 195, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.", "output": {"entities": {"gene": [{"text": "CNNM4", "start": 11, "end": 16}], "disease": [{"text": "cone-rod dystrophy and amelogenesis imperfecta", "start": 55, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CNNM4", "start": 11, "end": 16}, "tail": {"text": "cone-rod dystrophy and amelogenesis imperfecta", "start": 55, "end": 101}}]}}, "schema": []}
{"input": "We investigated the frequency of promoter region CpG island methylation (CIM) of hMLH1, MGMT, MINT1, MINT2, and p16 and K-ras mutations in a total of 79 hyperplastic (serrated) polyps (HPs) from 75 patients and correlated the molecular profiles to polyp location in the colorectum, histologic variation, and other factors.", "output": {"entities": {"gene": [{"text": "MINT2", "start": 101, "end": 106}], "disease": [{"text": "polyps", "start": 177, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Absence of Metallothionein 3 Expression in Breast Cancer is a Rare, But Favorable Marker of Outcome that is Under Epigenetic Control.", "output": {"entities": {"gene": [{"text": "Metallothionein 3", "start": 11, "end": 28}], "disease": [{"text": "Breast Cancer", "start": 43, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Metallothionein 3", "start": 11, "end": 28}, "tail": {"text": "Breast Cancer", "start": 43, "end": 56}}]}}, "schema": []}
{"input": "Molecular amplification of genomic VH genes and Southern hybridization with somatic CDR2-specific oligonucleotide probes showed that the configuration of the VH genes corresponding to VH sequences in the nephritogenic antibodies is not present in the patient' s own germ-line DNA, implying that the B-cell clones underwent somatic mutation in vivo.", "output": {"entities": {"gene": [{"text": "CDR2", "start": 84, "end": 88}], "disease": [{"text": "somatic mutation", "start": 323, "end": 339}]}, "relations": {}}, "schema": []}
{"input": "Finally, while screening for somatic alterations in TP53 in a series of 141 sporadic breast tumors, we detected a constitutional missense mutation in codon 235 in a woman diagnosed with breast cancer at age 26 and a recurrence 4 years later.", "output": {"entities": {"gene": [{"text": "TP53", "start": 52, "end": 56}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We studied factor (F) VIII deficient individuals (11 mild, 4 moderate and 12 severe) with a well-characterized 5-year bleeding history that included haemarthrosis, soft tissue haematoma and annual FVIII concentrate usage.", "output": {"entities": {"gene": [{"text": "VIII", "start": 22, "end": 26}], "disease": [{"text": "haemarthrosis", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Most notably, the severe chromosomal abnormality did not cause cell death owing to the activation of AKT pathway, including elevated levels of phosphorylated AKT and mammalian target of rapamycin, and nuclear accumulation of cyclin D1, which enabled continuous proliferation of the tetraploid cells.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 166, "end": 195}], "disease": [{"text": "chromosomal abnormality", "start": 25, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Only one Asian case with molecular demonstration of the NUP98-HOXA9 fusion has been reported in therapy-related leukemia.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 56, "end": 61}], "disease": [{"text": "therapy-related leukemia", "start": 96, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "However, it is still unclear whether the TNF-alpha polymorphism is related to the sporadic Alzheimer' s disease (SAD) in China as well.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 41, "end": 50}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Study participants with a complete data set in terms of smoking and the TNF-alpha G-308A polymorphism were 300 middle-aged male and female industrial employees.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 72, "end": 81}], "disease": [{"text": "smoking", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "(In this study, working with a bleomycin (BLM)-induced scleroderma model mice, we performed two transfections of human hepatocyte growth factor (HGF) cDNA into the skeletal muscle and showed that this treatment not only helped to prevent the dermal sclerosis simultaneously injected BLM but also improved the symptoms of dermal sclerosis induced by BLM 4 weeks previously.)", "output": {"entities": {"gene": [{"text": "HGF", "start": 145, "end": 148}], "disease": [{"text": "sclerosis", "start": 249, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Behavioral tests demonstrate that AS ODN targeting NaV1. 9, but not NaV1. 8, reverses melittin-induced heat hypersensitivity.", "output": {"entities": {"gene": [{"text": "NaV1. 8", "start": 68, "end": 75}], "disease": [{"text": "hypersensitivity", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Defective DNA topoisomerase II in ataxia-telangiectasia cells.", "output": {"entities": {"gene": [{"text": "DNA topoisomerase II", "start": 10, "end": 30}], "disease": [{"text": "telangiectasia", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T & gt; G (Leu55Arg)", "output": {"entities": {"gene": [{"text": "EDA1", "start": 86, "end": 90}], "disease": [{"text": "hypohidrotic) ectodermal dysplasia", "start": 21, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA1", "start": 86, "end": 90}, "tail": {"text": "hypohidrotic) ectodermal dysplasia", "start": 21, "end": 55}}]}}, "schema": []}
{"input": "Weight, relative weight (relative to NCHS median for age, sex, and stature), subcutaneous fatfolds, various indices of obesity, and other measures of body size were significantly correlated with systolic blood pressure (SBP) and DBP in each sex (r = 0. 3 to 0. 7).", "output": {"entities": {"gene": [{"text": "DBP", "start": 229, "end": 232}], "disease": [{"text": "systolic blood pressure", "start": 195, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "The data demonstrate an association between GSTA1 and GSTP1 genotypes and BU-maximal concentration (C (max)) (P = 0. 01, P = 0. 02, respectively), area under the concentration-time curve (AUC) (P = 0. 02, P = 0. 01, respectively) and oral BU clearance/kg body weight (P < 0. 02, P = 0. 08, respectively).", "output": {"entities": {"gene": [{"text": "GSTA1", "start": 44, "end": 49}], "disease": [{"text": "body weight", "start": 255, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "The TRH stimulation test did not distinguish between subtypes of unipolar depression using the familial subtyping criteria of Winokur.", "output": {"entities": {"gene": [{"text": "TRH", "start": 4, "end": 7}], "disease": [{"text": "unipolar depression", "start": 65, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 4, "end": 7}, "tail": {"text": "unipolar depression", "start": 65, "end": 84}}]}}, "schema": []}
{"input": "Serum total immunoglobulin (Ig) E and IL-13 levels were measured by ELISA and the IL-13R A (1) gene (+ 1398 A/G) was screened by PCR-restriction fragment length polymorphism (RFLP) in 240 asthmatic children (120 atopic and 120 nonatopic) and 120 allergic rhinitis patients compared with 120 age-matched controls.", "output": {"entities": {"gene": [{"text": "allergic rhinitis", "start": 246, "end": 263}], "disease": [{"text": "atopic", "start": 212, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Glomerular fibrin deposition is a common histological feature of crescentic glomerulonephritis (CGN).", "output": {"entities": {"gene": [{"text": "CGN", "start": 96, "end": 99}], "disease": [{"text": "crescentic glomerulonephritis", "start": 65, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "This addiction is generally dependent on the acquisition of an activating kinase mutation, e. g., the bcr-abl fusion gene in chronic myeloid leukemia, or point mutations of KIT or PDGFRA in gastrointestinal stroma tumors (GIST).", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 180, "end": 186}], "disease": [{"text": "addiction", "start": 5, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "For this, we analysed the mononecleotide repeats in ATG2B, ATG5, ATG9B and ATG12 in 32 gastric carcinomas with high MSI (MSI-H), 13 gastric carcinomas with low MSI (MSI-L), 43 colorectal carcinomas with MSI-H and 15 colorectal carcinomas with MSI-L by a single-strand conformation polymorphism (SSCP) analysis.", "output": {"entities": {"gene": [{"text": "ATG9B", "start": 65, "end": 70}], "disease": [{"text": "carcinomas", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "To investigate genetic features in small and flat colorectal carcinomas that arise de novo, we searched for genetic alterations in six sporadic tumors by examining their APC, K-ras, and p53 genes.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 186, "end": 195}], "disease": [{"text": "sporadic", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Parkin and TDP-43 formed a multiprotein complex with HDAC6, perhaps to mediate TDP-43 translocation.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 53, "end": 58}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "There was no relationship between the expressions of TLR4 or TLR9 and patients' age, gender, smoking, the histological type of tumor, lymph node metastasis, and tumor node metastases (TNM) stage.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 53, "end": 57}], "disease": [{"text": "smoking", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Here we postulate that CTCs expressing genes related to epithelial-mesenchymal transition (EMT) are strong predictors of metastatic prostate cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 91, "end": 94}], "disease": [{"text": "metastatic prostate cancer", "start": 121, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.", "output": {"entities": {"gene": [{"text": "CCAAT/enhancer binding protein epsilon", "start": 119, "end": 157}], "disease": [{"text": "specific granule deficiency", "start": 11, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCAAT/enhancer binding protein epsilon", "start": 119, "end": 157}, "tail": {"text": "specific granule deficiency", "start": 11, "end": 38}}]}}, "schema": []}
{"input": "Serum levels of phospholipase A2 (PLA2) activity have been shown to be elevated in cases of septic shock and rheumatoid arthritis.", "output": {"entities": {"gene": [{"text": "PLA2", "start": 34, "end": 38}], "disease": [{"text": "septic shock", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In this article, the authors focus on the endothelial junction proteins CD31, VE-cadherin, and occludin as important factors for functional cell-cell contacts known as vascular adhesion molecules and adherence and tight junctions.", "output": {"entities": {"gene": [{"text": "occludin", "start": 95, "end": 103}], "disease": [{"text": "adhesion", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Gene expression analysis of rheumatoid arthritis synovial lining regions by cDNA microarray combined with laser microdissection: up-regulation of inflammation-associated STAT1, IRF1, CXCL9, CXCL10, and CCL5.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 170, "end": 175}], "disease": [{"text": "inflammation", "start": 146, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson' s disease (EOPD) Asian patients are lacking.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 34, "end": 39}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We undertook this study to find new members of the cancer-testis gene family appropriate for cancer immunotherapy METHODS: We analyzed the expression of six testis-specific genes called ODF1, ODF2, ODF3, ODF4, LEMD1 and SPATA19 in 30 prostate cancer and 25 benign prostate hyperplasia (BPH) samples by RT-PCR and restriction fragment length polymorphism (RFLP).", "output": {"entities": {"gene": [{"text": "ODF1", "start": 186, "end": 190}], "disease": [{"text": "benign prostate hyperplasia", "start": 257, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 117, "end": 121}], "disease": [{"text": "Best macular dystrophy", "start": 40, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 117, "end": 121}, "tail": {"text": "Best macular dystrophy", "start": 40, "end": 62}}]}}, "schema": []}
{"input": "The purpose of the current study was to define the myocellular changes and adaptation of the β-adrenergic receptor (β-AR) system that occur in the systemic right ventricle (RV) of children with hypoplastic left heart syndrome (HLHS).", "output": {"entities": {"gene": [{"text": "β-adrenergic receptor", "start": 93, "end": 114}], "disease": [{"text": "hypoplastic left heart syndrome", "start": 194, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "However, clinico-pathological parameters, including stage, differentiation, amount of ascites, and serum levels of CA125, did not show any correlation to mRNA expression of any given-type ST. Our results suggest that altered mRNA expressions of alpha2, 3-sialyltransferase ST3Gal I, ST3Gal III, ST3Gal IV, ST3Gal VI, andalpha2, 6-sialyltransferase ST6Gal I are of importance in malignant ovarian cancers.", "output": {"entities": {"gene": [{"text": "ST3Gal IV", "start": 295, "end": 304}], "disease": [{"text": "ascites", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "To that end, we screened 52 Jewish-Israeli patients with AD: 22 with sporadic, early-onset disease (below 65 years), and 30 with FAD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 129, "end": 132}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Bradykinin and substance P have been implicated as mediators in angiotensin-converting enzyme inhibitor (ACEI)-associated angioedema.", "output": {"entities": {"gene": [{"text": "substance P", "start": 15, "end": 26}], "disease": [{"text": "angioedema", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We retrospectively studied 343 patients who had been admitted to our hospital; 161 with chronic hepatitis, 49 with liver cirrhosis, 42 with chronic hepatitis bearing HCC and 91 with liver cirrhosis bearing HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 166, "end": 169}], "disease": [{"text": "chronic hepatitis", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "1, 25 (OH) 2D3 also induced amphiregulin mRNA in estrogen receptor-positive and-negative human breast cancer cell lines, but not in LNCaP human prostate cancer cells.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 28, "end": 40}], "disease": [{"text": "breast cancer", "start": 95, "end": 108}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "amphiregulin", "start": 28, "end": 40}, "tail": {"text": "breast cancer", "start": 95, "end": 108}}]}}, "schema": []}
{"input": "TMX exposure to human cholangiocarcinoma after pretreatment with IFN-gamma allows for induction of apoptosis in vitro and significant inhibition tumor xenograft growth.", "output": {"entities": {"gene": [{"text": "TMX", "start": 0, "end": 3}], "disease": [{"text": "tumor", "start": 145, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "RGH-2202 was 2-5 times more effective than TRH in improving the deficits of active avoidance performance and retention in mice, while it was weaker than TRH in modifying the haloperidol-induced catalepsy in mice and enhancing the spinal reflexes in rats.", "output": {"entities": {"gene": [{"text": "TRH", "start": 43, "end": 46}], "disease": [{"text": "catalepsy", "start": 194, "end": 203}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 43, "end": 46}, "tail": {"text": "catalepsy", "start": 194, "end": 203}}]}}, "schema": []}
{"input": "Zebrafish injected with cep164 morpholinos likewise manifest developmental abnormalities, impaired DNA damage signaling, apoptosis and a pro-fibrotic response in vivo.", "output": {"entities": {"gene": [{"text": "cep164", "start": 24, "end": 30}], "disease": [{"text": "abnormalities", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In summary, our observations indicate that ileal FGF15 may contribute to HCC development in a context of chronic liver injury and fibrosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 73, "end": 76}], "disease": [{"text": "fibrosis", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The dysregulated expression of EWS-WT1 targets contribute to the malignant phenotype of DSRCT and provide valuable insight regarding the molecular mechanisms underlying the development and progression of this distinct translocation associated tumor.", "output": {"entities": {"gene": [{"text": "EWS", "start": 31, "end": 34}], "disease": [{"text": "translocation", "start": 218, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.", "output": {"entities": {"gene": [{"text": "SURF1", "start": 22, "end": 27}], "disease": [{"text": "Leigh syndrome", "start": 87, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SURF1", "start": 22, "end": 27}, "tail": {"text": "Leigh syndrome", "start": 87, "end": 101}}]}}, "schema": []}
{"input": "Ours is the first report of CEBPA mutations in human neoplasia, and such mutations are likely to induce the differentiation block found in AML.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 28, "end": 33}], "disease": [{"text": "AML", "start": 139, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEBPA", "start": 28, "end": 33}, "tail": {"text": "AML", "start": 139, "end": 142}}]}}, "schema": []}
{"input": "Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A (TA) 7TAA, and H39D] of UGT1A1.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 107, "end": 113}], "disease": [{"text": "Crigler-Najjar syndrome type II", "start": 0, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UGT1A1", "start": 107, "end": 113}, "tail": {"text": "Crigler-Najjar syndrome type II", "start": 0, "end": 31}}]}}, "schema": []}
{"input": "A brief period of ischemia, i. e., ischemic preconditioning, affords robust protection of CA1 neurons against a subsequent more prolonged ischemic challenge.", "output": {"entities": {"gene": [{"text": "CA1", "start": 90, "end": 93}], "disease": [{"text": "ischemia", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We have reported previously that cranial neural-crest-specific inactivation of the homeobox gene Shox2, which is expressed in the mesenchymal cells of the maxilla-mandibular junction and later in the progenitor cells and perichondrium of the developing chondyle, leads to dysplasia and ankylosis of the TMJ and that replacement of the mouse Shox2 with the human SHOX gene rescues the dysplastic and ankylosis phenotypes but results in a prematurely worn out articular disc.", "output": {"entities": {"gene": [{"text": "Shox2", "start": 97, "end": 102}], "disease": [{"text": "ankylosis", "start": 286, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.", "output": {"entities": {"gene": [{"text": "CYP21A2", "start": 43, "end": 50}], "disease": [{"text": "21-hydroxylase deficiency", "start": 99, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21A2", "start": 43, "end": 50}, "tail": {"text": "21-hydroxylase deficiency", "start": 99, "end": 124}}]}}, "schema": []}
{"input": "Overexpression of CLDN1 inhibited cancer cell dissociation in time-lapse imaging of wound healing, and suppressed cancer cell migration, invasion, and metastasis.", "output": {"entities": {"gene": [{"text": "CLDN1", "start": 18, "end": 23}], "disease": [{"text": "dissociation", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We thus investigated whether the loss of one FUS allele by translocation in liposarcoma may be followed by mutations in either the remaining FUS allele or the paralogous EWSR1.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 170, "end": 175}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Using relatively low concentrations of oligos, we compared the efficacy of the first generation phosphorothioated oligos against TGF-alpha (MR1) and EGFR (MR2) with second generation oligos containing completely phosphorothioated backbones and different patterns of 2'-methoxyethyl (2'-MOE) backbone modifications, while retaining the original designated base sequence using, the LNCaP and PC-3 prostate cancer cell lines, respectively.", "output": {"entities": {"gene": [{"text": "MR1", "start": 140, "end": 143}], "disease": [{"text": "prostate cancer", "start": 395, "end": 410}]}, "relations": {}}, "schema": []}
{"input": "This work aimed to investigate the occurrence of Asn and Ser FSHR gene variants and its relationship with seminal anti-Müllerian hormone (AMH) among normozoospermic and infertile oligoasthenozoospermic (OAT) males.", "output": {"entities": {"gene": [{"text": "OAT", "start": 203, "end": 206}], "disease": [{"text": "infertile", "start": 169, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the functional state of T cells in guttate psoriasis, we analysed mRNA expression levels of T-bet and GATA-3 for Th1 and Th2 differentiation, respectively together with Th1 (IFN-γ) and Th2 (IL-4) cytokine mRNA expression.", "output": {"entities": {"gene": [{"text": "T-bet", "start": 105, "end": 110}], "disease": [{"text": "guttate psoriasis", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "This study examines the role of endothelial Nox4 in ischemia-induced angiogenesis and explores the potential mechanisms involved.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 44, "end": 48}], "disease": [{"text": "ischemia", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The interaction between Fas and Fas ligand (FasL) is supposed to be one of the mechanisms for liver dysfunction in ANKL.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 32, "end": 42}], "disease": [{"text": "liver dysfunction", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Positive correlation (P < 0. 05) was found between Interferon-gamma and T-Bet levels in CT-positive fertile women and IL-4 mRNA and GATA3 levels in CT-positive infertile patients upon IncB and IncC stimulation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 118, "end": 122}], "disease": [{"text": "infertile", "start": 160, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that cocaine administration induces early NADPH-driven O2-. release which may play an important role in the development and progression of the LV dysfunction observed after chronic cocaine abuse.", "output": {"entities": {"gene": [{"text": "NADPH", "start": 62, "end": 67}], "disease": [{"text": "cocaine abuse", "start": 201, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NADPH", "start": 62, "end": 67}, "tail": {"text": "cocaine abuse", "start": 201, "end": 214}}]}}, "schema": []}
{"input": "Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 78, "end": 82}], "disease": [{"text": "Fragile X syndrome", "start": 262, "end": 280}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 78, "end": 82}, "tail": {"text": "Fragile X syndrome", "start": 262, "end": 280}}]}}, "schema": []}
{"input": "We tested whether this potentially functional allele in the NOS2 gene influences the development of atopy and asthma.", "output": {"entities": {"gene": [{"text": "NOS2 gene", "start": 60, "end": 69}], "disease": [{"text": "atopy", "start": 100, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have also shown that ABCG4, a close relative of ABCG1, controls platelet production, atherosclerosis, and thrombosis.", "output": {"entities": {"gene": [{"text": "ABCG4", "start": 36, "end": 41}], "disease": [{"text": "atherosclerosis", "start": 100, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Polycythemia in a physician secondary to self-administered growth hormone, testosterone, and dehydroepiandrosterone to prevent aging.", "output": {"entities": {"gene": [{"text": "growth hormone", "start": 59, "end": 73}], "disease": [{"text": "Polycythemia", "start": 0, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "growth hormone", "start": 59, "end": 73}, "tail": {"text": "Polycythemia", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "A group of chromosomal translocations involving the EWS gene and a member of the Ets transcription factor family of genes has been detected in EWS/PNET, and heterogeneity in the precise breakpoint of the translocation has been shown to generate a group of related fusion transcripts that may have prognostic significance.", "output": {"entities": {"gene": [{"text": "EWS", "start": 52, "end": 55}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the associations between smoking cigarettes and polymorphisms of the NAT2 and GSTM-1 genes using data obtained from an incident case-control study of 1993 cases of colon cancer and 2410 age-and sex-matched controls.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 97, "end": 101}], "disease": [{"text": "smoking", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The CCl (4) and thioacetamide treatment led to an increase of hepatic Cxcl4 levels, platelet activation, and aggregation in early fibrosis in mice.", "output": {"entities": {"gene": [{"text": "Cxcl4", "start": 70, "end": 75}], "disease": [{"text": "fibrosis", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The remote ATOH7 element appears to act as a secondary or' shadow' transcriptional enhancer.", "output": {"entities": {"gene": [{"text": "ATOH7", "start": 11, "end": 16}], "disease": [{"text": "secondary", "start": 45, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In our present study, we investigated the potential role of WT1 gene in human colon cancer.", "output": {"entities": {"gene": [{"text": "WT1", "start": 60, "end": 63}], "disease": [{"text": "colon cancer", "start": 78, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WT1", "start": 60, "end": 63}, "tail": {"text": "colon cancer", "start": 78, "end": 90}}]}}, "schema": []}
{"input": "We examined the expression of the putative tumor suppressor gene deleted in colorectal carcinoma (DCC) in human colon adenoma tissues and cell lines.", "output": {"entities": {"gene": [{"text": "DCC", "start": 98, "end": 101}], "disease": [{"text": "colon adenoma", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH levels and low levels of insulin-like growth factor (IGF)-I, IGF-II, insulin-like growth factor-binding protein 3 (IGFBP-3), and GH-binding protein (the solubilised extracellular domain of the GH cell surface receptor).", "output": {"entities": {"gene": [{"text": "IGF", "start": 225, "end": 228}], "disease": [{"text": "depressed nasal bridge", "start": 88, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to evaluate the function of CD4 + CD25 + and Foxp3 + T (Treg) cell and related cytokine in the Uygur patients with cervical carcinoma and CIN (cervical intraepithelial neoplasia).", "output": {"entities": {"gene": [{"text": "CD25", "start": 59, "end": 63}], "disease": [{"text": "cervical intraepithelial neoplasia", "start": 168, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Our previous microarray analyses showed that the gene kallikrein-related peptidase 13 (KLK13) was down-regulated in oral squamous cell carcinoma (OSCC) cell lines.", "output": {"entities": {"gene": [{"text": "KLK13", "start": 87, "end": 92}], "disease": [{"text": "squamous cell carcinoma", "start": 121, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Taspase1 cleaves MLL1 to activate cyclin E for HER2/neu breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "MLL1", "start": 17, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We also found germline heterozygous SEC23B variants in 3/96 (3%) unrelated mutation-negative CS probands with thyroid cancer and in The Cancer Genome Atlas (TCGA), representing apparently sporadic cancers.", "output": {"entities": {"gene": [{"text": "SEC23B", "start": 36, "end": 42}], "disease": [{"text": "CS", "start": 93, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEC23B", "start": 36, "end": 42}, "tail": {"text": "CS", "start": 93, "end": 95}}]}}, "schema": []}
{"input": "Active caspase-3 was subsequently increased, and 85% of the hippocampal CA1 neurons showed apoptotic DNA damage 3 d after ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 72, "end": 75}], "disease": [{"text": "ischemia", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Addition of exogenous SPARC, as well as ectopic expression by an adenoviral vector, resulted in decreased proliferation of ovarian cancer cell lines.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 22, "end": 27}], "disease": [{"text": "ovarian cancer", "start": 123, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPARC", "start": 22, "end": 27}, "tail": {"text": "ovarian cancer", "start": 123, "end": 137}}]}}, "schema": []}
{"input": "These findings indicate that both Th1-and Th2-type as well as T regulatory cells are present in NLS and LS in canine atopic skin.", "output": {"entities": {"gene": [{"text": "Th1", "start": 34, "end": 37}], "disease": [{"text": "atopic", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "CD26 expression may explain the abnormal extramedullary spread of CML LSC, and inhibition of CD26 may revert abnormal LSC function and support curative treatment approaches in this malignancy.", "output": {"entities": {"gene": [{"text": "LSC", "start": 70, "end": 73}], "disease": [{"text": "malignancy", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We conclude that inappropriate activation of AMPK secondary to the T400N PRKAG2 mutation is associated with the early activation of NF-kappaB and Akt signaling pathway, which mediates cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 73, "end": 79}], "disease": [{"text": "cardiac hypertrophy", "start": 184, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity.", "output": {"entities": {"gene": [{"text": "MLL2", "start": 26, "end": 30}], "disease": [{"text": "Kabuki syndrome", "start": 53, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLL2", "start": 26, "end": 30}, "tail": {"text": "Kabuki syndrome", "start": 53, "end": 68}}]}}, "schema": []}
{"input": "A mammary tumor-derived cell line, Hs578T, which proliferates in an EGF-independent manner, does not express detectable levels of AR and is not growth inhibited by heparin.", "output": {"entities": {"gene": [{"text": "EGF", "start": 68, "end": 71}], "disease": [{"text": "mammary tumor", "start": 2, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that TRalpha might be involved in tumorigenesis, and that interactions between the TRalpha and nm23 genes might take part in hematogenous metastasis of gastric cancer.", "output": {"entities": {"gene": [{"text": "nm23", "start": 118, "end": 122}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Liver X receptor-alpha (LXR-alpha), being a member of the nuclear receptor/transcription factor family, has been widely recognized to have a pleiotropic effect in the regulation of genes involved in innate immunity, inflammation and cholesterol homeostasis.", "output": {"entities": {"gene": [{"text": "Liver X receptor-alpha", "start": 0, "end": 22}], "disease": [{"text": "inflammation", "start": 216, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "The properties of homologues to several of the identified tumor-antigens, especially PLU-1, SCP-1, DNEL2, CLOCK, and PIASx-alpha, suggest further investigation of their possible function in malignant melanoma.", "output": {"entities": {"gene": [{"text": "DNEL2", "start": 99, "end": 104}], "disease": [{"text": "malignant melanoma", "start": 190, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In this report we present the results of mutational analysis of the BRCA2 coding sequences in 105 high-risk individuals affected with breast cancer and/or ovarian cancer and previously found to be negative for mutations of the BRCA1 coding sequence in our laboratory.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 68, "end": 73}], "disease": [{"text": "breast cancer", "start": 134, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 68, "end": 73}, "tail": {"text": "breast cancer", "start": 134, "end": 147}}]}}, "schema": []}
{"input": "The aim of this study was to determine EDN3 and EDNRB messenger RNA (mRNA) levels in tissue samples from patients with sporadic Hirschsprung disease.", "output": {"entities": {"gene": [{"text": "EDN3", "start": 39, "end": 43}], "disease": [{"text": "sporadic", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to test the influence of mutation of A9 region in EphB2 gene in the prognosis of patients with sporadic CCR.", "output": {"entities": {"gene": [{"text": "EphB2 gene", "start": 76, "end": 86}], "disease": [{"text": "sporadic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In particular, it has been suggested that p53 mutations occur less often in RER-positive (RER +) sporadic colorectal cancers.", "output": {"entities": {"gene": [{"text": "p53", "start": 42, "end": 45}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry for agrin was performed on 25 HCC, 16 intrahepatic CCC, 20 colorectal cancer metastasis (CRCm), and 18 pancreatic ductal carcinoma metastasis (PDCm) samples and evaluated with both quantitative and qualitative methods.", "output": {"entities": {"gene": [{"text": "HCC", "start": 51, "end": 54}], "disease": [{"text": "pancreatic ductal carcinoma", "start": 124, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Thus, imatinib may be very effective for treating the early cardiac involvement of FIP1L1-PDGFRA-positive CEL, but it needs to be used cautiously.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 83, "end": 89}], "disease": [{"text": "CEL", "start": 106, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIP1L1", "start": 83, "end": 89}, "tail": {"text": "CEL", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "SPHK1-2, SGPP1-2, SGPL1, SPHKAP, and S1PR1-5 messenger RNA expression by quantitative real-time polymerase chain reaction (PCR) in the endometrium of 15 disease-free women, 16 eutopic and 16 ectopic endometrium of endometriosis-affected women.", "output": {"entities": {"gene": [{"text": "SGPP1", "start": 9, "end": 14}], "disease": [{"text": "endometriosis", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Thus, germline mutations/rare variants in CDKN1A, CDKN2B, and CDKN2C likely contribute to the development of a significant subgroup of common sporadic parathyroid adenomas, and somatic mutation in CDKN2C further suggests a direct role for CDKI alteration in conferring a selective growth advantage to parathyroid cells, providing novel support for the concept that multiple CDKIs can play primary roles in human neoplasia.", "output": {"entities": {"gene": [{"text": "CDKN2C", "start": 62, "end": 68}], "disease": [{"text": "somatic mutation", "start": 177, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "The SNPs in codon 680 and at position-29 of the FSHR gene were analyzed by PCR-RFLP technique in 240 men with proven fathers, and 270 infertile men (150 nonobstructive azoospermic and 120 severe oligozoospermic).", "output": {"entities": {"gene": [{"text": "FSHR gene", "start": 48, "end": 57}], "disease": [{"text": "infertile", "start": 134, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "With the capacity to participate in thermogenesis and energy balance, UCP3 is an important obesity candidate gene.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 70, "end": 74}], "disease": [{"text": "obesity", "start": 91, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UCP3", "start": 70, "end": 74}, "tail": {"text": "obesity", "start": 91, "end": 98}}]}}, "schema": []}
{"input": "Conserved CDR 3 region of T cell receptor BV gene in lymphocytes from bronchoalveolar lavage fluid of patients with idiopathic pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "CDR", "start": 10, "end": 13}], "disease": [{"text": "idiopathic pulmonary fibrosis", "start": 116, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Analysis of covariance (using coma days as the covariate to control for differences in initial severity of injury between subjects with and without APOE epsilon4) revealed a significant difference for both total FIM and motor FIM scores between the subjects with and without APOE epsilon4.", "output": {"entities": {"gene": [{"text": "FIM", "start": 212, "end": 215}], "disease": [{"text": "coma", "start": 30, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "A novel complex heterozygous variant of PDE6B gene in a sporadic case, a T to C transition in codon 323 resulting in the substitution of Gly by Ser and two bp (TG) inserted between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in the same isolate RP.", "output": {"entities": {"gene": [{"text": "PDE6B gene", "start": 40, "end": 50}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Increased concentrations of fibrinogen, D-Dimer, factor VIII, factor IX and factor XI were found in 15, 7, 7, 6 and 2 patients, respectively, all obese.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 49, "end": 60}], "disease": [{"text": "fibrinogen", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Roles of stem cell factor/c-Kit and effects of Glivec/STI571 in human uveal melanoma cell tumorigenesis.", "output": {"entities": {"gene": [{"text": "stem cell factor", "start": 9, "end": 25}], "disease": [{"text": "uveal melanoma", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase.", "output": {"entities": {"gene": [{"text": "CD23", "start": 291, "end": 295}], "disease": [{"text": "mild", "start": 87, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Despite the technological advantage of fluorescence in-situ hybridization on tissue microarray, which allows refining regions of amplification, we were not able to recognize any of the MYBL2, ZNF217, CYP24 and STK6 genes as a particular relevant gene for melanoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "MYBL2", "start": 185, "end": 190}], "disease": [{"text": "tumorigenesis", "start": 264, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "In all rats, blood glucose, insulin, hemoglobin A1c (HbA1c), fibrinogen, factor VII (FVII), plasminogen activator inhibitor-1 (PAI-1), fibrin degradation products (FDP), protein C, antithrombin III (ATIII), malondialdehydes (MDA), and antioxidants (superoxide dismutase, catalase, glutathione peroxidase, glutathione) were measured.", "output": {"entities": {"gene": [{"text": "ATIII", "start": 199, "end": 204}], "disease": [{"text": "fibrinogen", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Possible mechanisms between low HLA G expression and resistance to infections as well as potential relationships between infections in early life and susceptibility to BD are discussed.", "output": {"entities": {"gene": [{"text": "HLA G", "start": 32, "end": 37}], "disease": [{"text": "BD", "start": 168, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLA G", "start": 32, "end": 37}, "tail": {"text": "BD", "start": 168, "end": 170}}]}}, "schema": []}
{"input": "In conclusion, the homozygous DHFR mutation p. Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid.", "output": {"entities": {"gene": [{"text": "DHFR", "start": 30, "end": 34}], "disease": [{"text": "DHFR deficiency", "start": 64, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHFR", "start": 30, "end": 34}, "tail": {"text": "DHFR deficiency", "start": 64, "end": 79}}]}}, "schema": []}
{"input": "The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1.", "output": {"entities": {"gene": [{"text": "LRP1", "start": 118, "end": 122}], "disease": [{"text": "KPA", "start": 40, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP1", "start": 118, "end": 122}, "tail": {"text": "KPA", "start": 40, "end": 43}}]}}, "schema": []}
{"input": "Furthermore, ALDH2 504Lys was associated with several metabolic traits, eg, lower levels of high-density lipoprotein cholesterol and liver enzymes-AST, ALT, and γGTP-by interacting with alcohol intake.", "output": {"entities": {"gene": [{"text": "AST", "start": 147, "end": 150}], "disease": [{"text": "alcohol intake", "start": 186, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Here, we generated two types of survivin-responsive m-CRAs (Surv. m-CRAs), Surv. m-CRA-CMVp and Surv. m-CRA-OCp, which use two and three different mechanisms to target cancer, that is, early region 1A (E1A) regulated by the survivin promoter and mutated E1BΔ55K regulated by the ubiquitously active cytomegalovirus promoter and cancer/tissue-specific osteocalcin promoter, respectively, and carefully examined their safety and anticancer effects.", "output": {"entities": {"gene": [{"text": "CRA", "start": 54, "end": 57}], "disease": [{"text": "cytomegalovirus", "start": 299, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "The linearity experiment for Amplicor had regression of observed values compared to expected values (y = 1. 073x-0. 247; R (2) = 0. 993, n = 32; for HC2, y = 0. 855x + 0. 759, R (2) = 0. 729, n = 18).", "output": {"entities": {"gene": [{"text": "HC2", "start": 149, "end": 152}], "disease": [{"text": "regression", "start": 42, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.", "output": {"entities": {"gene": [{"text": "PKNOX2", "start": 0, "end": 6}], "disease": [{"text": "schizophrenia", "start": 53, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PKNOX2", "start": 0, "end": 6}, "tail": {"text": "schizophrenia", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "In vivo toxicity studies demonstrated no effect of EGTA, C10, or C12 on weight gain, lung edema, or bronchoalveolar lavage fluid (BALF) albumin.", "output": {"entities": {"gene": [{"text": "C10", "start": 57, "end": 60}], "disease": [{"text": "weight gain", "start": 72, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Some investigators did not show differences in prognosis between positive and negative cases after a long follow-up period whereas investigations with a short term follow-up period up to 2-3 years have indeed established a more aggressive behaviour of c-erbB-2 overexpressionary tumours.", "output": {"entities": {"gene": [{"text": "c-erbB-2", "start": 252, "end": 260}], "disease": [{"text": "aggressive behaviour", "start": 228, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "In this review, we discussed that HGF is a member of the endothelium specific growth factors whose serum concentration is significantly associated with blood pressure.", "output": {"entities": {"gene": [{"text": "HGF", "start": 34, "end": 37}], "disease": [{"text": "blood pressure", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, in vivo gene transfer of eNOS, but not iNOS or eNOS plus iNOS, regressed atherosclerosis.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 40, "end": 44}], "disease": [{"text": "atherosclerosis", "start": 88, "end": 103}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 40, "end": 44}, "tail": {"text": "atherosclerosis", "start": 88, "end": 103}}]}}, "schema": []}
{"input": "A t (4; 16) (q26; p13. 1) chromosome translocation found in tumour cells from a patient with a T cell lymphoma was shown to rearrange the interleukin 2 gene, normally located on chromosome band 4q26, with sequences from chromosome band 16p13. 1.", "output": {"entities": {"gene": [{"text": "interleukin 2 gene", "start": 138, "end": 156}], "disease": [{"text": "chromosome translocation", "start": 26, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Within the CAD patient group, dose-response curves of L-selectin showed significant differences in the presence of hypertension, dyslipidemia, coronary occlusion and degree of stenosis, whereas CD11b expression had the strongest discriminating power after single dose stimulation.", "output": {"entities": {"gene": [{"text": "L-selectin", "start": 54, "end": 64}], "disease": [{"text": "stenosis", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We genotyped GSTA2_448_C > G (rs2180314), GSTA2_742_A > C (rs6577), GSTM2_-832_T > C (rs638820), GSTO1_-1242_G > A (rs2164624), GSTO1_419_A > C (rs4925), GSTO2_-183_A > G (rs2297235), GSTO2_342_A > G (rs156697), GSTZ1_-4378_A > G (rs1046428), and GSTZ1_94_G > A (rs3177427) by MALDI-TOF MS in the German GENICA breast cancer case-control collection of 1021 cases and 1015 controls and performed breast cancer risk association in general and with respect to the stratifications: menopausal status, family history of breast or ovarian cancer, use of oral contraceptives, use of hormone therapy, body mass index, and smoking as well as histopathological tumor characteristics including hormone receptor status, grade, histology, and node status.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 683, "end": 699}], "disease": [{"text": "smoking", "start": 614, "end": 621}]}, "relations": {}}, "schema": []}
{"input": "Mice in which one copy of Ptch1 is inactivated show increased susceptibility to spontaneous tumor development and hypersensitivity to radiation-induced tumorigenesis, providing an ideal in vivo model to study the typical pathologies associated with basal cell nevus syndrome.", "output": {"entities": {"gene": [{"text": "Ptch1", "start": 26, "end": 31}], "disease": [{"text": "hypersensitivity", "start": 114, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The seminal' two-hit hypothesis' implicitly assumes that bi-allelic tumour suppressor gene (TSG) mutations cause loss of protein function.", "output": {"entities": {"gene": [{"text": "TSG", "start": 92, "end": 95}], "disease": [{"text": "hit", "start": 17, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "271 HBV infected patients were recruited in this study out of these 109 were spontaneously recovered and 162 were diagnosed to be having persistent HBV infection which includes 48 chronic hepatitis, 84 liver cirrhosis, 30 HCC cases and were compared with 280 healthy controls.", "output": {"entities": {"gene": [{"text": "HCC", "start": 222, "end": 225}], "disease": [{"text": "chronic hepatitis", "start": 180, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "This review outlines the current understanding of Cygb' s involvement in tumor hypoxia and discusses its role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cygb' s", "start": 50, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We aim to check if serum levels of receptor for advanced glycation endproduct (RAGE) ligands S100B, S100A6 and S100P were related to myocardial injury in acute coronary syndrome (ACS).", "output": {"entities": {"gene": [{"text": "S100B", "start": 93, "end": 98}], "disease": [{"text": "acute coronary syndrome", "start": 154, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.", "output": {"entities": {"gene": [{"text": "C2orf37", "start": 0, "end": 7}], "disease": [{"text": "Woodhouse-Sakati syndrome", "start": 31, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C2orf37", "start": 0, "end": 7}, "tail": {"text": "Woodhouse-Sakati syndrome", "start": 31, "end": 56}}]}}, "schema": []}
{"input": "In conclusion, our results suggested that the Thr495Pro polymorphism of GHR was associated with the risk of lung cancer in a redundant interaction with smoking and familial history of cancer.", "output": {"entities": {"gene": [{"text": "GHR", "start": 72, "end": 75}], "disease": [{"text": "smoking", "start": 152, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c. 992T & gt; G (p. L331R) in exon 11 and c. 1094G & gt; A (p. R365Q) in exon 13 of the gene.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 113, "end": 118}], "disease": [{"text": "FDH", "start": 61, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PORCN", "start": 113, "end": 118}, "tail": {"text": "FDH", "start": 61, "end": 64}}]}}, "schema": []}
{"input": "These findings suggest that, through expression of CXCL5, eosinophils can recruit and activate CXC receptor 2 (CXCR2)-bearing cells such as neutrophils at sites of inflammation.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 51, "end": 56}], "disease": [{"text": "inflammation", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The expression of the FA genes FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCJ, FANCL and FANCM in 11 HNSCC cell lines and 49 tongue carcinoma samples was studied with quantitative real-time polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "FANCL", "start": 88, "end": 93}], "disease": [{"text": "tongue carcinoma", "start": 134, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "It also inhibited CCI-induced inflammation and T cell activation, by decreasing spinal cord TNF-α, IL-2 and NF-κB p65 levels.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 99, "end": 103}], "disease": [{"text": "inflammation", "start": 30, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a new 3-base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B.", "output": {"entities": {"gene": [{"text": "ZFHX1B", "start": 194, "end": 200}], "disease": [{"text": "Hirschsprung disease-mental retardation syndrome", "start": 57, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZFHX1B", "start": 194, "end": 200}, "tail": {"text": "Hirschsprung disease-mental retardation syndrome", "start": 57, "end": 105}}]}}, "schema": []}
{"input": "Immunoblotting analysis showed a decrease in the immunoreactivity of phosphorylated CREB (pCREB) in the ipsilateral hemisphere on the third day after microsphere embolism, whereas that of the total CREB was not altered.", "output": {"entities": {"gene": [{"text": "CREB", "start": 84, "end": 88}], "disease": [{"text": "embolism", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Both salusin-β-induced VCAM-1 induction and monocyte/HUVEC adhesion were suppressed by pharmacological inhibitors of NF-κB, e. g., Bay 11-7682 and curcumin.", "output": {"entities": {"gene": [{"text": "salusin-β", "start": 5, "end": 14}], "disease": [{"text": "adhesion", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In addition to detecting the most common ACC translocation, t (6; 9) fusing the MYB proto-oncogene to NFIB, we also detected previously unknown t (8; 9) and t (8; 14) translocations fusing the MYBL1 gene to the NFIB and RAD51B genes, respectively.", "output": {"entities": {"gene": [{"text": "RAD51B", "start": 220, "end": 226}], "disease": [{"text": "translocation", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na +/K + balance maintained by downregulation of ENaC activity and upregulation of ROMK.", "output": {"entities": {"gene": [{"text": "ROMK", "start": 341, "end": 345}], "disease": [{"text": "hyperkalemia", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Although relative hypotension and fatigue have recently been associated with CBG deficiency in a family with two CBG mutations (null and Lyon), the two homozygous subjects in this kindred were both normotensive and only the proband presented with fatigue.", "output": {"entities": {"gene": [{"text": "CBG", "start": 77, "end": 80}], "disease": [{"text": "CBG deficiency", "start": 77, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBG", "start": 77, "end": 80}, "tail": {"text": "CBG deficiency", "start": 77, "end": 91}}]}}, "schema": []}
{"input": "There was no evidence of CD4 (+) T-cell loss, and plasma viremia was controlled to undetectable levels by 6 weeks postchallenge and has remained suppressed out to 22 weeks postchallenge.", "output": {"entities": {"gene": [{"text": "CD4", "start": 25, "end": 28}], "disease": [{"text": "viremia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to test whether levels of proinsulin immunoreactivity (PIM) relative to those of insulin immunoreactivity (IRI) or C-peptide are changed and related to subclinical beta-cell dysfunction in siblings of insulin-dependent diabetes mellitus (IDDM) patients.", "output": {"entities": {"gene": [{"text": "PIM", "start": 87, "end": 90}], "disease": [{"text": "insulin-dependent diabetes mellitus", "start": 233, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Therefore, our goal was to systematically determine SSTR2 expression in benign cold thyroid nodules (CNs), hot thyroid nodules (HNs), papillary carcinomas (PCs), and Graves' disease (GD) in comparison with intraindividual control tissues by means of immunohistochemistry.", "output": {"entities": {"gene": [{"text": "SSTR2", "start": 52, "end": 57}], "disease": [{"text": "cold", "start": 79, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "PAR-2 is known to exert proinflammatory actions in a murine model of arthritis, since PAR-2-deficient mice exhibit strikingly reduced articular inflammation.", "output": {"entities": {"gene": [{"text": "PAR", "start": 0, "end": 3}], "disease": [{"text": "arthritis", "start": 69, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The orexin-2/hypocretin-2 (OX2R) receptor gene is mutated in canine narcolepsy and disruption of the prepro-orexin/hypocretin ligand gene results in both an animal model of narcolepsy and sporadic cases of the human disease.", "output": {"entities": {"gene": [{"text": "OX2R", "start": 27, "end": 31}], "disease": [{"text": "sporadic", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We report on a first patient with clinical and immunologic features of OS caused by hypomorphic ARTEMIS mutations.", "output": {"entities": {"gene": [{"text": "ARTEMIS", "start": 96, "end": 103}], "disease": [{"text": "OS", "start": 71, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARTEMIS", "start": 96, "end": 103}, "tail": {"text": "OS", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "We found that hypoxia expands different breast stem/progenitor cell populations (cells with increased aldehyde dehydrogenase activity (Aldefluor +), high mammosphere formation capacity and CD44 + CD24-/low cells) both in primary normal epithelial and tumor cells.", "output": {"entities": {"gene": [{"text": "CD44", "start": 189, "end": 193}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization---using a set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and usually show the translocation as fusion (red-green) signal on der (22)---showed a fusion signal on der (11) suggesting an insertion as the mechanism that led to the EWS-FLI-1 gene rearrangement.", "output": {"entities": {"gene": [{"text": "EWS", "start": 83, "end": 86}], "disease": [{"text": "translocation", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous mutations occurring in F13A1 and F13B genes causing mild FXIII deficiency have been reported only in the last few years primarily because the mild FXIII deficiency patients are often asymptomatic unless exposed to some kind of a physical trauma.", "output": {"entities": {"gene": [{"text": "F13A1", "start": 36, "end": 41}], "disease": [{"text": "mild", "start": 65, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We also examined whether factors associated with DNA damage, such as smoking and antioxidant intake, modified the association between XRCC1 polymorphisms and breast cancer.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 134, "end": 139}], "disease": [{"text": "smoking", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we report that miR-520b suppresses cell proliferation in HCC through targeting the ten-eleven translocation 1 (TET1) mRNA.", "output": {"entities": {"gene": [{"text": "HCC", "start": 79, "end": 82}], "disease": [{"text": "translocation", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia (rMED).", "output": {"entities": {"gene": [{"text": "ACG", "start": 95, "end": 98}], "disease": [{"text": "diastrophic dysplasia", "start": 136, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Thus, we confirm that 1) a gain of function mutation in the fifth transmembrane domain of the CaR causes severe familial hypoparathyroidism by rendering the receptor more sensitive than normal to activation by Ca2 + e; 2) some patients in the family do not experience seizures despite their severe hypocalcemia; and 3) this condition needs to be differentiated from other causes of hypoparathyroidism.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 210, "end": 213}], "disease": [{"text": "hypoparathyroidism", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "No relation is found between SLC activity and target organ damage which includes coronary artery disease, peripheral arterial occlusive disease, left ventricular hypertrophy and cerebrovascular accident.", "output": {"entities": {"gene": [{"text": "SLC", "start": 29, "end": 32}], "disease": [{"text": "cerebrovascular accident", "start": 178, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Further, dietary TCDF inhibited the farnesoid X receptor (FXR) signaling pathway, triggered significant inflammation and host metabolic disorders as a result of activation of bacterial fermentation, and altered hepatic lipogenesis, gluconeogenesis, and glycogenolysis in an AHR-dependent manner.", "output": {"entities": {"gene": [{"text": "AHR", "start": 274, "end": 277}], "disease": [{"text": "metabolic disorders", "start": 126, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 274, "end": 277}, "tail": {"text": "metabolic disorders", "start": 126, "end": 145}}]}}, "schema": []}
{"input": "In the present study, MMP-9, uPAR and cathepsin B genes were downregulated in glioma xenograft cells using shRNA plasmid constructs and we evaluated the involvement of integrins and changes in their adhesion, migration and invasive potential.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 38, "end": 49}], "disease": [{"text": "adhesion", "start": 199, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "When we used the median expression levels of the NER proteins in the controls as cutoff values, we found that a significantly increased risk of SCCHN was associated with low expression of XPA [odds ratio (OR), 2. 99; 95% confidence interval (CI), 1. 22-7. 47], XPC (OR, 2. 46; 95% CI, 1. 04-5. 87), XPD (OR, 3. 02; 95% CI, 1. 18-7. 76), and XPF (OR, 5. 29; 95% CI, 2. 01-13. 9), but not ERCC1 and XPG, after adjustment for age, sex, ethnicity, smoking, alcohol use, and sample storage time.", "output": {"entities": {"gene": [{"text": "NER", "start": 49, "end": 52}], "disease": [{"text": "alcohol use", "start": 453, "end": 464}]}, "relations": {}}, "schema": []}
{"input": "Reporter assay, cell proliferation assay, and xenotransplantation experiments were used to show the functional consequence and importance of Pin1-HBx interaction in hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 141, "end": 145}], "disease": [{"text": "hepatocarcinogenesis", "start": 165, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.", "output": {"entities": {"gene": [{"text": "CBFA1", "start": 21, "end": 26}], "disease": [{"text": "cleidocranial dysplasia", "start": 61, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBFA1", "start": 21, "end": 26}, "tail": {"text": "cleidocranial dysplasia", "start": 61, "end": 84}}]}}, "schema": []}
{"input": "The t (12; 21) translocation that generates the ETV6-RUNX1 (TEL-AML1) fusion gene, is the most common chromosomal rearrangement in childhood cancer and is exclusively associated with B-cell precursor acute lymphoblastic leukemia (BCP-ALL).", "output": {"entities": {"gene": [{"text": "BCP", "start": 230, "end": 233}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Importantly, this model fails to account for the potential loss of wild type (WT) Nup98 function in the presence of Nup98 translocation mutants.", "output": {"entities": {"gene": [{"text": "Nup98", "start": 82, "end": 87}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-23 receptor (IL23R) can interact with IL-23 and, thus, is involved in the T-helper 17 (Th17) cell-mediated inflammatory process as well as tumorigenesis.", "output": {"entities": {"gene": [{"text": "IL23R", "start": 25, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Translocation (10; 11) (p13; q13) and MLL gene rearrangement in a case of AML (M5a) with aggressive leukemia cutis.", "output": {"entities": {"gene": [{"text": "p13", "start": 24, "end": 27}], "disease": [{"text": "leukemia cutis", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The effect of the 5-HT4 antagonists GR113808A and GR125487D on cocaine-induced cardiac arrhythmia was examined in the rat. Cocaine alone, given i. v. at a rate of 2 mg/kg every 5 min, produced an initial increase in blood pressure followed by a severe drop in pressure and bradycardia.", "output": {"entities": {"gene": [{"text": "5-HT4", "start": 18, "end": 23}], "disease": [{"text": "cardiac arrhythmia", "start": 79, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT4", "start": 18, "end": 23}, "tail": {"text": "cardiac arrhythmia", "start": 79, "end": 97}}]}}, "schema": []}
{"input": "MHO was defined by waist circumference, low-density lipoprotein (LDL-C) cholesterol, high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs), systolic blood pressure (SBP), diastolic blood pressure (DBP), and glucose.", "output": {"entities": {"gene": [{"text": "DBP", "start": 209, "end": 212}], "disease": [{"text": "systolic blood pressure", "start": 152, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy.", "output": {"entities": {"gene": [{"text": "FGD1", "start": 89, "end": 93}], "disease": [{"text": "myopathy", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.", "output": {"entities": {"gene": [{"text": "AARS2", "start": 25, "end": 30}], "disease": [{"text": "Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia", "start": 75, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AARS2", "start": 25, "end": 30}, "tail": {"text": "Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia", "start": 75, "end": 147}}]}}, "schema": []}
{"input": "In cultured human esophageal epithelial (HET-1A) cells, misoprostol increased intracellular cAMP levels (by 163-fold), induced phosphorylation of CREB, and stimulated VEGF expression.", "output": {"entities": {"gene": [{"text": "CREB", "start": 146, "end": 150}], "disease": [{"text": "esophageal", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Genetic variations in PPARD and PPARGC1A determine mitochondrial function and change in aerobic physical fitness and insulin sensitivity during lifestyle intervention.", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 32, "end": 40}], "disease": [{"text": "insulin sensitivity", "start": 117, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Polymerase chain reaction and restriction fragment length polymorphism methods were performed to detect the IGF2 ApaI and IGF2R Gly1619Arg genotypes in 98 Croatian men with idiopathic infertility and 113 fertile men.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 108, "end": 112}], "disease": [{"text": "infertility", "start": 184, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In addition, we evaluated the potential benefit, for prediction accuracy, of a recently described non-invasive fibrosis staging assay, the Enhanced Liver Fibrosis (ELF) test.", "output": {"entities": {"gene": [{"text": "ELF", "start": 164, "end": 167}], "disease": [{"text": "fibrosis", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "There was no significant difference observed in the allelic and genotypic distribution between the BPAD and control groups for cPLA2 (genotype: chi2 = 0. 8, 2df, p = 0. 6; allele chi2 = 0, 1df, p = 0. 9), iPLA2 (genotype: chi2 = 1. 7, 2df, p = 0. 4; allele: chi2 = 0. 3, 1df, p = 0. 6), and sPLA2 (allele: chi2 = 3. 6, 6df, p = 0. 8).", "output": {"entities": {"gene": [{"text": "cPLA2", "start": 127, "end": 132}], "disease": [{"text": "BPAD", "start": 99, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cPLA2", "start": 127, "end": 132}, "tail": {"text": "BPAD", "start": 99, "end": 103}}]}}, "schema": []}
{"input": "Tumor formation by Fe-irradiated cells is accompanied by rampant genomic instability and multiple genomic changes, the most interesting of which is loss of the p15/Ink4b tumor suppressor due to deletion of a chromosomal region harboring the CDKN2A and CDKN2B loci.", "output": {"entities": {"gene": [{"text": "CDKN2B", "start": 252, "end": 258}], "disease": [{"text": "genomic instability", "start": 65, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "On statistical analysis (limited to the larger no-retinopathy group), a predominance of Hp1-1 was noted in older patients; Hp2-2 was associated with an increased rate of stroke.", "output": {"entities": {"gene": [{"text": "Hp1", "start": 88, "end": 91}], "disease": [{"text": "retinopathy", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Parthenolide (PTL) is a sesquiterpene lactone which can induce apoptosis in cancer cells and eradicate cancer stem cells such as leukemia stem cells, prostate tumor-initiating cells and so on.", "output": {"entities": {"gene": [{"text": "PTL", "start": 14, "end": 17}], "disease": [{"text": "leukemia", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, was screened for sequence variations in individuals with intervertebral disc disease.", "output": {"entities": {"gene": [{"text": "COL9A2", "start": 4, "end": 10}], "disease": [{"text": "intervertebral disc disease", "start": 181, "end": 208}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL9A2", "start": 4, "end": 10}, "tail": {"text": "intervertebral disc disease", "start": 181, "end": 208}}]}}, "schema": []}
{"input": "All subjects' blood pressure (systolic blood pressure, SBP; diastolic blood pressure, DBP), biochemical values, plasma homocysteine, pyridoxal 5'-phosphate (PLP), serum folate, vitamin B12 concentrations, and methylenetetrafolate reductase (MTHFR) 677C--> T gene polymorphism were measured.", "output": {"entities": {"gene": [{"text": "T gene", "start": 256, "end": 262}], "disease": [{"text": "blood pressure", "start": 14, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Association of the minor allele of rs2231142 with gout was observed in the Pacific Island samples (OR = 2. 80, P (STRAT) < 0. 001 after accounting for effects of population structure), but not in the Māori samples (OR = 1. 08, P (STRAT) = 0. 70), with heterogeneity in association evident between the Māori and Pacific Island datasets (P (HET) = 0. 001).", "output": {"entities": {"gene": [{"text": "HET", "start": 339, "end": 342}], "disease": [{"text": "gout", "start": 50, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism in the androgen receptor and mammographic density in women taking and not taking estrogen and progestin therapy.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 20, "end": 37}], "disease": [{"text": "mammographic density", "start": 42, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Among pale-skinned individuals alone, this association between CMM and MC1R variants was absent, but it persisted among those reporting a medium or olive/dark complexion.", "output": {"entities": {"gene": [{"text": "CMM", "start": 63, "end": 66}], "disease": [{"text": "pale", "start": 6, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "The average numbers of methylated genes were 0, 1. 27, 1. 38 and 2. 72 for normal livers, chronic hepatitis, cirrhosis and HCCs, respectively, and this progressive increase from normal livers to chronic hepatitis/cirrhosis through HCC may suggest that tumor suppressor gene methylation is an early event in hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 123, "end": 126}], "disease": [{"text": "chronic hepatitis", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Treatment with beta-aminopropionitrile, an irreversible inhibitor of LOX activity, dramatically reduced diffuse mineralization but had no effect on PTH-induced fibrosis.", "output": {"entities": {"gene": [{"text": "PTH", "start": 148, "end": 151}], "disease": [{"text": "fibrosis", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Whether the cyclooxygenase (COX) pathway contributes to intermittent hypoxia-induced atherosclerosis remains to be determined.", "output": {"entities": {"gene": [{"text": "COX", "start": 28, "end": 31}], "disease": [{"text": "hypoxia", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "DNA ploidy and synthetic phase fraction (SPF) of 52 cases of primary intracranial neoplasms have been determined from fresh tissues and the data was correlated with histopathological typing and grading.", "output": {"entities": {"gene": [{"text": "SPF", "start": 41, "end": 44}], "disease": [{"text": "intracranial neoplasms", "start": 69, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "JNK1 and JNK2 have broad tissue distribution and play a potential role in insulin resistance, inflammation and cell signaling.", "output": {"entities": {"gene": [{"text": "JNK2", "start": 9, "end": 13}], "disease": [{"text": "insulin resistance", "start": 74, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Atad5 (+/m) mice displayed high levels of genomic instability in vivo, and Atad5 (+/m) mouse embryonic fibroblasts (MEFs) exhibited molecular defects in PCNA deubiquitination in response to DNA damage, as well as DNA damage hypersensitivity and high levels of genomic instability, apoptosis, and aneuploidy.", "output": {"entities": {"gene": [{"text": "Atad5", "start": 0, "end": 5}], "disease": [{"text": "hypersensitivity", "start": 224, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "The TIMP3 (-1296T > C) was associated with recurrent pneumonia in the dominant model (P (adj) = 0. 0031, P (cor) = 0. 031, OR = 1. 91).", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 4, "end": 9}], "disease": [{"text": "recurrent pneumonia", "start": 43, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we describe two novel HGD mutations in a Chinese AKU family, the splicing mutation of IVS7 + 1G & gt; C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12.", "output": {"entities": {"gene": [{"text": "HGD", "start": 37, "end": 40}], "disease": [{"text": "AKU", "start": 64, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGD", "start": 37, "end": 40}, "tail": {"text": "AKU", "start": 64, "end": 67}}]}}, "schema": []}
{"input": "Plasma bilirubin and the early fractional hepatic uptake rate (BSP K (1)) of a low dose of tetrabromosulfophthalein (0. 59 micromol/kg) were determined in (1) 15 unrelated patients with unconjugated hyperbilirubinemia plus 12 random controls; (2) 4 unrelated GS probands and 15 of their first-degree relatives; (3) 7 unrelated patients with hemolysis due to beta-Thalassemia minor.", "output": {"entities": {"gene": [{"text": "BSP", "start": 63, "end": 66}], "disease": [{"text": "hemolysis", "start": 341, "end": 350}]}, "relations": {}}, "schema": []}
{"input": "Thus, we have developed a novel fluorescence in-situ hybridization and primed in-situ hybridization (PRINS) approach and rapidly localized the breakpoint of a non-recurrent 22q11. 2 translocation, a t (4; 22).", "output": {"entities": {"gene": [{"text": "PRINS", "start": 101, "end": 106}], "disease": [{"text": "translocation", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "A broad phenotypic variability may be observed in BVMD, even with a single BEST1 mutation.", "output": {"entities": {"gene": [{"text": "BEST1", "start": 75, "end": 80}], "disease": [{"text": "BVMD", "start": 50, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BEST1", "start": 75, "end": 80}, "tail": {"text": "BVMD", "start": 50, "end": 54}}]}}, "schema": []}
{"input": "Previous studies have identified mutations in the RSPO4 and LMX1B components of the Wnt pathway in patients with the hypoplastic nail disorders anonychia and nail-patella syndrome, respectively.", "output": {"entities": {"gene": [{"text": "RSPO4", "start": 50, "end": 55}], "disease": [{"text": "nail-patella syndrome", "start": 158, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We determined whether the functional intronic G1675A or A1818T polymorphism of the X-chromosomal AT2 gene is associated with blood pressure levels or with kidney function.", "output": {"entities": {"gene": [{"text": "AT2", "start": 97, "end": 100}], "disease": [{"text": "blood pressure", "start": 125, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "This study was undertaken to investigate the mechanism for the decrease in Se-GPX1 activity during iron deficiency.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 78, "end": 82}], "disease": [{"text": "iron deficiency", "start": 99, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD.", "output": {"entities": {"gene": [{"text": "ATP2C1", "start": 41, "end": 47}], "disease": [{"text": "HHD", "start": 179, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2C1", "start": 41, "end": 47}, "tail": {"text": "HHD", "start": 179, "end": 182}}]}}, "schema": []}
{"input": "Autosomal dominant hypocalcemia (ADH) caused by activating mutations of calcium-sensing receptor (CaSR) is characterized by hypocalcemia with inappropriately low concentration of PTH and relative hypercalciuria.", "output": {"entities": {"gene": [{"text": "ADH", "start": 33, "end": 36}], "disease": [{"text": "hypercalciuria", "start": 196, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Although LR11 was reduced in sporadic AD, there was no difference in protein level or staining intensity between control and FAD cases.", "output": {"entities": {"gene": [{"text": "FAD", "start": 125, "end": 128}], "disease": [{"text": "sporadic", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the expression of PTK6 protein in 210 ESCCs was examined with immunohistochemistry (IHC), and its clinical value was analyzed using Kaplan-Meier plots and the Cox proportional hazards regression model.", "output": {"entities": {"gene": [{"text": "PTK6", "start": 31, "end": 35}], "disease": [{"text": "regression", "start": 197, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The mother' s heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome.", "output": {"entities": {"gene": [{"text": "RBM10", "start": 37, "end": 42}], "disease": [{"text": "TARP syndrome", "start": 120, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RBM10", "start": 37, "end": 42}, "tail": {"text": "TARP syndrome", "start": 120, "end": 133}}]}}, "schema": []}
{"input": "Forced overexpression of miRNA-214 significantly suppressed cell proliferation, cell cycle progression, colony-formation, and migration of cervical cancer Hela and Caski cells; however, upregulation of TFAM notably promoted cell proliferation, cell cycle progression, colony-formation, and migration of Hela and Caski cells.", "output": {"entities": {"gene": [{"text": "TFAM", "start": 202, "end": 206}], "disease": [{"text": "cervical cancer", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "However, the expression of SARI in leukemia and the underlying regulatory mechanism remain elusive.", "output": {"entities": {"gene": [{"text": "SARI", "start": 27, "end": 31}], "disease": [{"text": "leukemia", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Because the lh/lh genetic model of absence seizures correctly predicted effects of ESM, clonazepam, VPA, PHT, CBZ, and PB against human absence seizures, we performed this study to test the predictive utility of the lh/lh model for LTG, VGB, TGB, GBP, and TPM.", "output": {"entities": {"gene": [{"text": "TGB", "start": 242, "end": 245}], "disease": [{"text": "absence seizures", "start": 35, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The human choroideremia-like (CHML) gene and a locus for Usher syndrome type 2 (USH2) were recently mapped to the 1q31-qter region employing physical mapping and genetic linkage studies, respectively.", "output": {"entities": {"gene": [{"text": "USH2", "start": 80, "end": 84}], "disease": [{"text": "choroideremia", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "For the inhibition of catalepsy CCK-8-NS was the more active as it decreased catalepsy scores even 120 min after administration.", "output": {"entities": {"gene": [{"text": "CCK-8-NS", "start": 32, "end": 40}], "disease": [{"text": "catalepsy", "start": 22, "end": 31}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CCK-8-NS", "start": 32, "end": 40}, "tail": {"text": "catalepsy", "start": 22, "end": 31}}]}}, "schema": []}
{"input": "A case-control study conducted in Italy between 1992 and 1994, including 316 women with incident, histologically confirmed CMM and 308 controls, admitted to the same network of hospitals as cases for acute, non-dermatological, and non-neoplastic conditions.", "output": {"entities": {"gene": [{"text": "CMM", "start": 123, "end": 126}], "disease": [{"text": "non-neoplastic", "start": 231, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.", "output": {"entities": {"gene": [{"text": "PDGFRB", "start": 41, "end": 47}], "disease": [{"text": "regression", "start": 241, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Role of lung apolipoprotein A-I in idiopathic pulmonary fibrosis: antiinflammatory and antifibrotic effect on experimental lung injury and fibrosis.", "output": {"entities": {"gene": [{"text": "apolipoprotein A-I", "start": 13, "end": 31}], "disease": [{"text": "fibrosis", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We used a recently described molecular strategy, TAT-mediated protein transfer, to acutely introduce the NF2 protein, merlin, into primary human schwannoma cells in an attempt to reverse the cytoskeletal phenotype.", "output": {"entities": {"gene": [{"text": "TAT", "start": 49, "end": 52}], "disease": [{"text": "schwannoma", "start": 145, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The proportions of BAL CD4 + and PB CD4 + T cells expressing IL-18Ralpha were significantly increased in patients with sarcoidosis compared to control subjects.", "output": {"entities": {"gene": [{"text": "CD4", "start": 23, "end": 26}], "disease": [{"text": "sarcoidosis", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We performed in vitro co-culture and in vivo tumor growth analysis, showing that MSC did not affect the proliferation of Rif-1 cells and fibrosarcoma growth compared with an untreated control group.", "output": {"entities": {"gene": [{"text": "MSC", "start": 81, "end": 84}], "disease": [{"text": "fibrosarcoma", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "There should be no dysplasia, monocytosis, molecular evidence of BCR-ABL1, PDGFRA, PDGFRB, or FGRF1 rearrangements and no identifiable cause for physiologic neutrophilia or, if present, demonstration of myeloid clonality.", "output": {"entities": {"gene": [{"text": "ABL1", "start": 69, "end": 73}], "disease": [{"text": "neutrophilia", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Fourteen FCHL patients received 4 capsules daily of Omacor (an omega-3 polyunsaturated fatty acid [omega3 FA] concentrate providing 1. 88 g of eicosapentaenoic acid [EPA] and 1. 48 g of docosahexaenoic acid [DHA] per day; Pronova Biocare, Oslo, Norway) or placebo for 8 weeks in a randomized, double-blind, crossover study.", "output": {"entities": {"gene": [{"text": "EPA", "start": 166, "end": 169}], "disease": [{"text": "blind", "start": 300, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 78, "end": 83}], "disease": [{"text": "breast cancer", "start": 141, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 78, "end": 83}, "tail": {"text": "breast cancer", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "In addition, we investigated risk modifiers of AoVC, including the presence of LDLR mutations without residual function (LDLR-negative mutations), maximum untreated LDL-cholesterol (maxLDL), LDL-C, blood pressure, and coronary artery calcification (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 249, "end": 252}], "disease": [{"text": "coronary artery calcification", "start": 218, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "The angiotensin-converting enzyme (ACE) deletion allele, ACE D, is associated with increased cardiac ACE activity, cardiac fibrosis, and adverse outcomes in cardiovascular disease and has been linked with failure of antiatrial fibrillation (anti-AF) drug treatment.", "output": {"entities": {"gene": [{"text": "ACE", "start": 35, "end": 38}], "disease": [{"text": "fibrillation", "start": 227, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Imatinib mesylate induces cisplatin hypersensitivity in Bcr-Abl + cells by differential modulation of p53 transcriptional and proapoptotic activity.", "output": {"entities": {"gene": [{"text": "p53", "start": 102, "end": 105}], "disease": [{"text": "hypersensitivity", "start": 36, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Initial screening produced 20 hit molecules, 14 of which exhibited dose-dependent activation of the utrophin promoter and were confirmed as hits.", "output": {"entities": {"gene": [{"text": "utrophin", "start": 100, "end": 108}], "disease": [{"text": "hit", "start": 30, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "APOBEC3B messenger RNA is upregulated in most primary breast tumours and breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "APOBEC3B", "start": 0, "end": 8}], "disease": [{"text": "breast tumours", "start": 54, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3B", "start": 0, "end": 8}, "tail": {"text": "breast tumours", "start": 54, "end": 68}}]}}, "schema": []}
{"input": "Pentraxin-3 (PTX3), an acute-phase protein released during inflammation, aids phagocytic clearance of pathogens and apoptotic cells, and plays diverse immunoregulatory roles in tissue injury.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 13, "end": 17}], "disease": [{"text": "inflammation", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MCEE", "start": 191, "end": 195}], "disease": [{"text": "microsatellite instability", "start": 292, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "Stromal expression of CD10 in invasive breast carcinoma: a new predictor of clinical outcome.", "output": {"entities": {"gene": [{"text": "CD10", "start": 22, "end": 26}], "disease": [{"text": "invasive breast carcinoma", "start": 30, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "During iron deficiency, Se-GPX1 mRNA levels in liver tissue were decreased by approximately 55%.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 27, "end": 31}], "disease": [{"text": "iron deficiency", "start": 7, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 85, "end": 89}], "disease": [{"text": "fish eye disease", "start": 115, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 85, "end": 89}, "tail": {"text": "fish eye disease", "start": 115, "end": 131}}]}}, "schema": []}
{"input": "Overexpression of AGT (encoded by the methylguanine DNA methyltransferase-MGMT-gene) is known to block MNU induced tumorigenesis in mice with functional MMR.", "output": {"entities": {"gene": [{"text": "MMR", "start": 153, "end": 156}], "disease": [{"text": "tumorigenesis", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The latter feature appears to be characteristic of benign carcinoids and may contribute to explaining the CRH-independent circadian rhythm observed in this case.", "output": {"entities": {"gene": [{"text": "CRH", "start": 106, "end": 109}], "disease": [{"text": "circadian rhythm", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "PTN expression was observed in epiretinal membranes from patients.", "output": {"entities": {"gene": [{"text": "PTN", "start": 0, "end": 3}], "disease": [{"text": "epiretinal membranes", "start": 31, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "This initial study identified differences in the distribution of PAX7 alleles in DNA from patients with the skeletal muscle myopathy, dermatomyositis.", "output": {"entities": {"gene": [{"text": "PAX7", "start": 65, "end": 69}], "disease": [{"text": "dermatomyositis", "start": 134, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we evaluated the therapeutic efficacy of a replication-incompetent adenovirus expressing IGFBP7 (Ad. IGFBP7) in human HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 140, "end": 143}], "disease": [{"text": "adenovirus", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNA6", "start": 112, "end": 118}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA6", "start": 112, "end": 118}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Association of a BLVRA common polymorphism with essential hypertension and blood pressure in Kazaks.", "output": {"entities": {"gene": [{"text": "BLVRA", "start": 17, "end": 22}], "disease": [{"text": "blood pressure", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Accidentally, we observed a complete response (CR) in a patient undergoing chemotherapy with bleomycin, vincristine or Oncovin, CCNU or lomustine, dacarbazine (BOLD) regimen for metastatic melanoma including brain metastases, who was also treated with G-CSF to manage a concomitant leukopenia.", "output": {"entities": {"gene": [{"text": "G-CSF", "start": 252, "end": 257}], "disease": [{"text": "leukopenia", "start": 282, "end": 292}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "G-CSF", "start": 252, "end": 257}, "tail": {"text": "leukopenia", "start": 282, "end": 292}}]}}, "schema": []}
{"input": "Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.", "output": {"entities": {"gene": [{"text": "EPRS", "start": 24, "end": 28}], "disease": [{"text": "Hypomyelinating Leukodystrophy", "start": 94, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EPRS", "start": 24, "end": 28}, "tail": {"text": "Hypomyelinating Leukodystrophy", "start": 94, "end": 124}}]}}, "schema": []}
{"input": "Human mutations in KATNB1, which encodes the noncatalytic regulatory p80 subunit of katanin, cause severe microlissencephaly.", "output": {"entities": {"gene": [{"text": "KATNB1", "start": 19, "end": 25}], "disease": [{"text": "microlissencephaly", "start": 106, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KATNB1", "start": 19, "end": 25}, "tail": {"text": "microlissencephaly", "start": 106, "end": 124}}]}}, "schema": []}
{"input": "TyrCre +; Rb1fl/fl mice exhibited no melanocyte defects but died unexpectedly early with intestinal obstruction, striking defects in the enteric nervous system (ENS), and abnormal intestinal motility.", "output": {"entities": {"gene": [{"text": "ENS", "start": 161, "end": 164}], "disease": [{"text": "intestinal obstruction", "start": 89, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The data taken together indicate that HG shifts the immune balance toward pro-inflammatory/Th1 phenotype in mesangial cells and TECs, which might initiate and/or prolong inflammation, thereby resulting in diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "Th1", "start": 91, "end": 94}], "disease": [{"text": "inflammation", "start": 170, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The podoplanin gene (PDPN) is transcribed in cells derived from sarcomas, embryonal carcinomas, squamous cell carcinomas and endometrial tumours, while cell lines derived from colon, pancreatic, ovarian and ductal breast carcinomas do not express PDPN transcripts.", "output": {"entities": {"gene": [{"text": "PDPN", "start": 21, "end": 25}], "disease": [{"text": "sarcomas", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "For lipophilin C, a somatic mutation (T to C transition at positions 409 and 412) was found in human tumor samples and absent in normal prostate tissue.", "output": {"entities": {"gene": [{"text": "lipophilin C", "start": 4, "end": 16}], "disease": [{"text": "tumor", "start": 101, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Moreover, during IVF and embryo transfer (IVF-ET) treatment, fewer mature oocytes (P < 0. 05) and lower fertilization rate (P < 0. 01) were found in BDNF (Met/Met) carriers compared with those in BDNF (Val/Val) carriers with infertility.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 149, "end": 153}], "disease": [{"text": "infertility", "start": 225, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "We tested for mutations in the keratin 8 and keratin 18 genes in purified genomic DNA isolated from 150 explanted livers and 89 peripheral-blood specimens from three groups of patients: 55 patients with cryptogenic liver disease; 98 patients with noncryptogenic liver disease, with causes that included alcohol use, autoimmunity, drug use, and viral infections; and 86 randomly selected inpatients and outpatients who provided blood to the hematology laboratory.", "output": {"entities": {"gene": [{"text": "keratin 18", "start": 45, "end": 55}], "disease": [{"text": "autoimmunity", "start": 316, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "Food-grade bacteria expressing elafin protect against inflammation and restore colon homeostasis.", "output": {"entities": {"gene": [{"text": "elafin", "start": 31, "end": 37}], "disease": [{"text": "inflammation", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to analyze whether erythema nodosum could represent an example of a polarized Th1 or Th2 immune response.", "output": {"entities": {"gene": [{"text": "Th1", "start": 104, "end": 107}], "disease": [{"text": "erythema nodosum", "start": 45, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The total MRI score and MRI erosion score increased significantly from baseline to one year despite falls in clinical measures of inflammation including erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and swollen joint count (p < 0. 01 for all).", "output": {"entities": {"gene": [{"text": "MRI", "start": 10, "end": 13}], "disease": [{"text": "inflammation", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the role of LOX in promoting invasion and metastasis of epithelial ovarian cancer in a hypoxic environment and its specific signal transduction pathway.", "output": {"entities": {"gene": [{"text": "LOX", "start": 36, "end": 39}], "disease": [{"text": "hypoxic", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "One hundred and fourty-eight patients with chronic HCV infection (45 chronic hepatitis, 53 cirrhosis, 50 HCC) and 50 controls were evaluated.", "output": {"entities": {"gene": [{"text": "HCC", "start": 105, "end": 108}], "disease": [{"text": "chronic hepatitis", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Gel mobility shift assays demonstrated that only SP-1 binding activity was increased 1 h after exposure to bFGF or TNF-alpha, and also that AP-1, but not SP-1, activity was significantly activated by hypoxia.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 140, "end": 144}], "disease": [{"text": "hypoxia", "start": 200, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 60, "end": 76}], "disease": [{"text": "NIDDM", "start": 0, "end": 5}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 60, "end": 76}, "tail": {"text": "NIDDM", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "VEGI, a novel cytokine of the tumor necrosis factor family, is an angiogenesis inhibitor that suppresses the growth of colon carcinomas in vivo.", "output": {"entities": {"gene": [{"text": "VEGI", "start": 0, "end": 4}], "disease": [{"text": "carcinomas", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, these agents induced DNA damage followed by the inhibition of DNA repair-associated gene expressions, including ATM, ATR, 14-3-3sigma, BRCA1, DNA-PK and MGMT in SCC-4 human tongue cancer cells.", "output": {"entities": {"gene": [{"text": "ATM", "start": 127, "end": 130}], "disease": [{"text": "tongue cancer", "start": 188, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The frequency of p53 over-expression was 126/200 (63. 0%) in sporadic cancers and 4/120 (3. 3%) in adenomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 17, "end": 20}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Blood levels of homocysteine, factor VIII, and fibrinogen were significantly higher and factor II levels were significantly lower in hemodialysis patients than in controls, whereas factor VII, factor IX, and natural coagulation inhibitor levels were similar in patients and controls.", "output": {"entities": {"gene": [{"text": "factor II", "start": 88, "end": 97}], "disease": [{"text": "fibrinogen", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "beta-Cell-specific overexpression of glutathione peroxidase preserves intranuclear MafA and reverses diabetes in db/db mice.", "output": {"entities": {"gene": [{"text": "MafA", "start": 83, "end": 87}], "disease": [{"text": "diabetes", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Additionally, part, if not all, of the nerve growth factor receptor locus is present on the translocated portion of 17q (17q21-qter) from a poorly differentiated acute leukemia in which the chromosome 17 breakpoint was indistinguishable cytogenetically from the 17 breakpoint observed in the t (15; 17) (q22; q21) translocation associated with acute promyelocytic leukemia.", "output": {"entities": {"gene": [{"text": "nerve growth factor receptor", "start": 39, "end": 67}], "disease": [{"text": "translocation", "start": 314, "end": 327}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-heterozygosity (LOH) has been studied on 3p (von Hippel-Lindau gene locus), 5q and 17p (p53 gene locus) by a polymerase chain reaction (PCR)-based strategy in 42 sporadic renal cell carcinomas (RCC).", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 96, "end": 104}], "disease": [{"text": "sporadic", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in silico meta-analysis of Oncomine' s cancer microarray database indicates that FOXF1 mRNA is overexpressed in a significant subset of colorectal adenocarcinoma tumors compared with normal colorectal tissue and other types of cancers.", "output": {"entities": {"gene": [{"text": "FOXF1", "start": 91, "end": 96}], "disease": [{"text": "colorectal adenocarcinoma", "start": 146, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Immunohistory revealed CD4 + and CD8 + T cells in lesions under rejection, but the predominant cells were macrophages, suggesting delayed-type hypersensitivity as a possible mechanism.", "output": {"entities": {"gene": [{"text": "CD4", "start": 23, "end": 26}], "disease": [{"text": "hypersensitivity", "start": 143, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The systolic blood pressure (SBP) and DBP of female patients taking reserpine were higher with the C and G alleles of rs3773661 (P = 0. 004) and rs7256241 (P = 0. 002), respectively.", "output": {"entities": {"gene": [{"text": "DBP", "start": 38, "end": 41}], "disease": [{"text": "systolic blood pressure", "start": 4, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Here we show that fibroblasts from sporadic Alzheimer' s disease (AD) patients specifically express an anomalous and detectable conformational state of p53 that makes these cells distinct from fibroblasts of age-matched non-AD subjects.", "output": {"entities": {"gene": [{"text": "p53", "start": 152, "end": 155}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Analysis of HOXD1, MYC, TIPARP and SKAP1 at these loci and of BNC2 at 9p22 supports a functional role for these genes in ovarian cancer development.", "output": {"entities": {"gene": [{"text": "MYC", "start": 19, "end": 22}], "disease": [{"text": "ovarian cancer", "start": 121, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYC", "start": 19, "end": 22}, "tail": {"text": "ovarian cancer", "start": 121, "end": 135}}]}}, "schema": []}
{"input": "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.", "output": {"entities": {"gene": [{"text": "holocytochrome c-type synthase", "start": 31, "end": 61}], "disease": [{"text": "microphthalmia with linear skin defects syndrome", "start": 83, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "holocytochrome c-type synthase", "start": 31, "end": 61}, "tail": {"text": "microphthalmia with linear skin defects syndrome", "start": 83, "end": 131}}]}}, "schema": []}
{"input": "Ischemic preconditioning, ischemia/reperfusion-induced pancreatitis and their combination increased the presence of VEGF in acinar and islet cells, and immunostaining for PDGF-A in blood vessels.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 171, "end": 177}], "disease": [{"text": "ischemia", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of p53 in colon tumorigenesis in mice, we examined allele loss and mutational alteration of the p53 gene in colon tumors induced by 1, 2-dimethylhydrazine (DMH) in F1 hybrid mice.", "output": {"entities": {"gene": [{"text": "DMH", "start": 178, "end": 181}], "disease": [{"text": "tumorigenesis", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control study in order to investigate the association of RAD51 135G > C and TP53 Arg72Pro polymorphisms with breast cancer in Serbian women. 48 BRCA negative women with breast cancer and family history of breast/ovarian cancer (hereditary group), 107 women with breast cancer but without family history of the disease (sporadic group) and 114 healthy women without a history of the disease (control group) were included.", "output": {"entities": {"gene": [{"text": "TP53", "start": 96, "end": 100}], "disease": [{"text": "sporadic", "start": 339, "end": 347}]}, "relations": {}}, "schema": []}
{"input": "Using multi-temperature single-stranded conformational polymorphism and sequencing analysis, we identified three novel AXIN2 gene variants: c. 956 + 16A > G, c. 1060-17C > T and c. 2062C > T. We also observed that individuals carrying the c. 956 + 16G and c. 2062T alleles exhibited an increased risk of tooth agenesis.", "output": {"entities": {"gene": [{"text": "16A", "start": 149, "end": 152}], "disease": [{"text": "tooth agenesis", "start": 304, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "Overall, TTV-DNA was detected in 62 subjects (19. 6%): in 17. 9% of the HBsAg carriers, in 14% of the anti-HCV-positive patients (in 8. 3% and in 15. 5% of patients with and without chronic hepatitis, respectively), in 22. 2% of non-A-non-E hepatitis patients, in 22. 8% of IVDUs, in 57. 1% of fulminant hepatitis patients.", "output": {"entities": {"gene": [{"text": "TTV", "start": 9, "end": 12}], "disease": [{"text": "chronic hepatitis", "start": 182, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasia to icthyosiform nevus and ipsilateral limb defects, ranging from digital hypoplasia to complete amelia.", "output": {"entities": {"gene": [{"text": "MIM", "start": 62, "end": 65}], "disease": [{"text": "nevus", "start": 196, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "To assess the importance of Jak2/Stat5 signaling during mammary cancer initiation and progression, we generated a PRL-induced mammary cancer model that allows the functional ablation of the Jak2 gene in the mammary epithelium before and after neoplastic transformation.", "output": {"entities": {"gene": [{"text": "Jak2 gene", "start": 190, "end": 199}], "disease": [{"text": "neoplastic transformation", "start": 243, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Novel complex heterozygous variants of PDE6B gene in a sporadic case, a T to C transversion in codon 323 resulting in the substitution of Gly by Ser and 2 base pairs (bp: G and T) insert between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in a same isolate RP.", "output": {"entities": {"gene": [{"text": "PDE6B gene", "start": 39, "end": 49}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.", "output": {"entities": {"gene": [{"text": "PIGL", "start": 51, "end": 55}], "disease": [{"text": "CHIME syndrome", "start": 62, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGL", "start": 51, "end": 55}, "tail": {"text": "CHIME syndrome", "start": 62, "end": 76}}]}}, "schema": []}
{"input": "BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "breast cancer", "start": 43, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 0, "end": 5}, "tail": {"text": "breast cancer", "start": 43, "end": 56}}]}}, "schema": []}
{"input": "The purpose of this study was to determine the effects of exogenous IL-4, introduced by a recombinant human type 5 adenovirus (Ad5) vector, on the tissue injury associated with an experimental model of colonic immune activation and inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 68, "end": 72}], "disease": [{"text": "inflammation", "start": 232, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1130233 polymorphisms with cachexia in PDAC.", "output": {"entities": {"gene": [{"text": "SELP", "start": 61, "end": 65}], "disease": [{"text": "cachexia", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "A new interaction hypothesis was generated demonstrating that the following variables were associated with accelerated decline in GFR: albuminuria (estimate, 2. 12 ml/min per yr per 10-fold increase in albuminuria; P < 0. 001), mean BP (estimate, 0. 88 ml/min per yr per 10 mmHg; P = 0. 02), hemoglobin A (1c) (estimate, 0. 54 min/min per yr per 1%; P = 0. 02), and number of M (M235T)/D (ID)/A (A (1166)--> C) alleles (estimate, 0. 45 ml/min per yr per allele; P = 0. 049).", "output": {"entities": {"gene": [{"text": "GFR", "start": 130, "end": 133}], "disease": [{"text": "albuminuria", "start": 135, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "HAART in HIV-infected patients: restoration of antigen-specific CD4 T-cell responses in vitro is correlated with CD4 memory T-cell reconstitution, whereas improvement in delayed type hypersensitivity is related to a decrease in viraemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 64, "end": 67}], "disease": [{"text": "viraemia", "start": 228, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "In a Th2-dependent model of allergic pulmonary inflammation, CD4 (+) lymphocytes bearing CCR3, CCR5, and CXCR4 trafficked in reduced numbers to the lung after acute inhalation challenge with allergen (OVA).", "output": {"entities": {"gene": [{"text": "CCR5", "start": 95, "end": 99}], "disease": [{"text": "inhalation", "start": 165, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "We identified approximately 3. 5-fold significant downregulation of selenium-binding protein 1 (SBP1) in colorectal tumors compared to normal mucosa (p = 0. 003).", "output": {"entities": {"gene": [{"text": "selenium-binding protein 1", "start": 68, "end": 94}], "disease": [{"text": "colorectal tumors", "start": 105, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "selenium-binding protein 1", "start": 68, "end": 94}, "tail": {"text": "colorectal tumors", "start": 105, "end": 122}}]}}, "schema": []}
{"input": "The subclinical phenotypes of asymptomatic members of these families have not been evaluated with respect to TERT mutation status or telomere length.", "output": {"entities": {"gene": [{"text": "TERT", "start": 109, "end": 113}], "disease": [{"text": "asymptomatic", "start": 30, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 151, "end": 156}], "disease": [{"text": "sporadic", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "MDC1A is caused by mutation of the laminin & #945;-2 gene (LAMA2), localized to chromosome 6q22-23.", "output": {"entities": {"gene": [{"text": "LAMA2", "start": 59, "end": 64}], "disease": [{"text": "MDC1A", "start": 0, "end": 5}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LAMA2", "start": 59, "end": 64}, "tail": {"text": "MDC1A", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "CONCLUSION: The NEDD4L salt sensitivity-associated genotype was associated with higher blood pressure, which may translate into increased risk for CVD morbidity and mortality.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 16, "end": 22}], "disease": [{"text": "blood pressure", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In this study, we sought to permanently alter calcium fluxes via phospholamban (PLN) gene deletion in Tm180 mice in order to sustain long-term improvements in cardiac function and adverse cardiac remodeling/hypertrophy.", "output": {"entities": {"gene": [{"text": "PLN", "start": 80, "end": 83}], "disease": [{"text": "hypertrophy", "start": 207, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Role of p38 and JNK MAPK signaling pathways and tumor suppressor p53 on induction of apoptosis in response to Ad-eIF5A1 in A549 lung cancer cells.", "output": {"entities": {"gene": [{"text": "eIF5A1", "start": 113, "end": 119}], "disease": [{"text": "lung cancer", "start": 128, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "CT-1 caused a dose dependent nuclear factor (NF) kappaB translocation.", "output": {"entities": {"gene": [{"text": "CT-1", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Cx40 and Cx43 expression were investigated further in a renin-dependent model of hypertension, in which rats showed an increase in arterial mean blood pressure four weeks after clipping one renal artery [two kidney, one-clip (2K1C) model].", "output": {"entities": {"gene": [{"text": "Cx43", "start": 9, "end": 13}], "disease": [{"text": "mean blood pressure", "start": 140, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.", "output": {"entities": {"gene": [{"text": "follicle-stimulating hormone receptor", "start": 51, "end": 88}], "disease": [{"text": "ovarian hyperstimulation syndrome", "start": 136, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "follicle-stimulating hormone receptor", "start": 51, "end": 88}, "tail": {"text": "ovarian hyperstimulation syndrome", "start": 136, "end": 169}}]}}, "schema": []}
{"input": "RESULTS: In large-scale screening of 16 SEREX-antigens by sera of breast cancer patients and healthy donors, a combination of six antigens (RAD50, PARD3, SPP1, SAP30BP, NY-BR-62 and NY-CO-58) was identified, which can differentiate breast cancer patients and healthy donors with 70% sensitivity and 91% specificity.", "output": {"entities": {"gene": [{"text": "PARD3", "start": 147, "end": 152}], "disease": [{"text": "breast cancer", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that individuals with disruption of the PTCHD1 coding region may have subtle dysmorphic features including a long face, prominent forehead, puffy eyelids and a thin upper lip.", "output": {"entities": {"gene": [{"text": "PTCHD1", "start": 60, "end": 66}], "disease": [{"text": "prominent forehead", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of KDM1 expression or its pharmacological inhibition using pargyline or NCL-1 significantly reduced the proliferation of glioma cells.", "output": {"entities": {"gene": [{"text": "NCL-1", "start": 82, "end": 87}], "disease": [{"text": "glioma", "start": 131, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, these data point towards a possible predictive impact of EFEMP1 expression in primary breast cancer.", "output": {"entities": {"gene": [{"text": "EFEMP1", "start": 70, "end": 76}], "disease": [{"text": "breast cancer", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EFEMP1", "start": 70, "end": 76}, "tail": {"text": "breast cancer", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "We investigated relationships between DNA copy number aberrations and chromosomal structural rearrangements in 11 different cell lines derived from oral squamous cell carcinoma (OSCC) by comparative genomic hybridization (CGH), spectral karyotyping (SKY), and fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 296, "end": 300}], "disease": [{"text": "squamous cell carcinoma", "start": 153, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Apoptosis-inducing factor and cyclophilin A cotranslocate to the motor neuronal nuclei in amyotrophic lateral sclerosis model mice.", "output": {"entities": {"gene": [{"text": "neuronal nuclei", "start": 71, "end": 86}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 90, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Recently, several mutations in apoptosis genes were identified as the cause of monogenic hearing impairment. These genes are TJP2, DFNA5 and MSRB3.", "output": {"entities": {"gene": [{"text": "TJP2", "start": 125, "end": 129}], "disease": [{"text": "hearing impairment", "start": 89, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TJP2", "start": 125, "end": 129}, "tail": {"text": "hearing impairment", "start": 89, "end": 107}}]}}, "schema": []}
{"input": "Statistically significant results were also obtained between the ECRG1 polymorphism and histophathological grade, smoking, dysphagia, low fruit/vegetable intake and salt tea consumption.", "output": {"entities": {"gene": [{"text": "ECRG1", "start": 65, "end": 70}], "disease": [{"text": "dysphagia", "start": 123, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The further analysis found that the expression of serum miR-130b-3p was positively correlated with 24-hour proteinuria and renal chronicity index in patients with early stage LN. Transfection of renal tubular cellline (HK-2) with miR-130b-3p mimics can promote epithelial-mesenchymal transition (EMT).", "output": {"entities": {"gene": [{"text": "EMT", "start": 296, "end": 299}], "disease": [{"text": "proteinuria", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of the genes for pregnancy-associated plasma protein A (PAPPA), tomoregulin, cellular retinoid acid binding protein 1 (CRABP1), zinc finger protein 185 (ZFP 185) and latent transforming growth factor beta binding protein 2 (LTBP2) was demonstrated in individual leiomyoma samples compared with corresponding myometrium.", "output": {"entities": {"gene": [{"text": "CRABP1", "start": 140, "end": 146}], "disease": [{"text": "leiomyoma", "start": 283, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "The subject' s mean age was 44. 7 (SD, 11. 7) years; 72% were white, and 51% male; 61% were receiving an AAP; the mean body mass index was 32. 6 (SD, 8. 2) kg/m, and 48% were current smokers.", "output": {"entities": {"gene": [{"text": "AAP", "start": 105, "end": 108}], "disease": [{"text": "body mass index", "start": 119, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation characterised by a defect in natural killer cell function.", "output": {"entities": {"gene": [{"text": "STX11", "start": 87, "end": 92}], "disease": [{"text": "immune dysregulation", "start": 188, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that these cellular mechanisms of OPG may be involved in the growth and proliferation of lymphangioleiomyomatosis (LAM) cells, abnormal smooth muscle-like cells with mutations in one of the tuberous sclerosis complex tumor-suppressor genes (TSC1/TSC2) that cause LAM, a multisystem disease characterized by cystic lung destruction, lymphatic infiltration, and abdominal tumors.", "output": {"entities": {"gene": [{"text": "OPG", "start": 50, "end": 53}], "disease": [{"text": "lymphangioleiomyomatosis", "start": 105, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "No correlation was found between the changes in COMT activity and the psychopathological picture of depression or the severity of endogenous depressive syndrome.", "output": {"entities": {"gene": [{"text": "COMT", "start": 48, "end": 52}], "disease": [{"text": "depressive syndrome", "start": 141, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COMT", "start": 48, "end": 52}, "tail": {"text": "depressive syndrome", "start": 141, "end": 160}}]}}, "schema": []}
{"input": "DSS administration to T cell-specific HIF-1α KO mice showed more severe colonic inflammation than control mice with the up-regulation of Th1 and Th17.", "output": {"entities": {"gene": [{"text": "Th1", "start": 137, "end": 140}], "disease": [{"text": "inflammation", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the selective SYVN1 inhibitor LS-102 abolished the negative regulation of PGC-1β by SYVN1 and prevented weight gain in mice.", "output": {"entities": {"gene": [{"text": "SYVN1", "start": 24, "end": 29}], "disease": [{"text": "weight gain", "start": 114, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The workshop also highlighted how plasmacytic differentiation can occur in chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, SOX11 negative MCL, and particularly in marginal zone lymphomas, all of which can cause diagnostic confusion with LPL.", "output": {"entities": {"gene": [{"text": "LPL", "start": 267, "end": 270}], "disease": [{"text": "follicular lymphoma", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We identified 5 somatic BRCA2 mutations in a set of 23 sporadic male breast cancers (21%).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 24, "end": 29}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "It was found that although the intron 2 MAOB (GT) (n) repeat polymorphism was not associated with PD in the population, a relationship might have been masked by the \" protective effect \" of tea drinking.", "output": {"entities": {"gene": [{"text": "MAOB", "start": 40, "end": 44}], "disease": [{"text": "drinking", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Mutation p. Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.", "output": {"entities": {"gene": [{"text": "EDA", "start": 25, "end": 28}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 43, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA", "start": 25, "end": 28}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 43, "end": 76}}]}}, "schema": []}
{"input": "There are three conditions that are associated with hyperplastic changes in endocrine cells preceding GEP-NETs: autoimmune chronic atrophic gastritis or multiple endocrine neoplasia type 1 (MEN1) with gastric enterochromaffin-like (ECL) cell hyperplasia; MEN1 with gastrin and somatostatin cell hyperplasia in the duodenum and glucagon cell hyperplasia in the islets of the pancreas; and inflammatory bowel disease with endocrine cell hyperplasia in the colon.", "output": {"entities": {"gene": [{"text": "GEP", "start": 102, "end": 105}], "disease": [{"text": "hyperplasia", "start": 242, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Sex hormone-binding globulin gene expression and insulin resistance.", "output": {"entities": {"gene": [{"text": "Sex hormone-binding globulin gene", "start": 0, "end": 33}], "disease": [{"text": "insulin resistance", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the haplotypes of families with recurrent MEN1 mutations with seven polymorphic markers in the 11q13 region surrounding the MEN1 gene (from D11S1883 to D11S4908).", "output": {"entities": {"gene": [{"text": "MEN1", "start": 54, "end": 58}], "disease": [{"text": "MEN1", "start": 136, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 54, "end": 58}, "tail": {"text": "MEN1", "start": 136, "end": 140}}]}}, "schema": []}
{"input": "Concerning disease aggressiveness, HLA-DRB1 * 15 occurred more frequently in the group with benign disease (42. 6% vs 19. 9%, OR = 2. 99, 95% CI = 1. 56-5. 72) and in the group with non-benign disease (34. 1% vs 19. 9%, OR = 2. 09, 95% CI = 1. 05-4. 16) compared with controls.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 35, "end": 43}], "disease": [{"text": "aggressiveness", "start": 19, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In Parkinson disease, LRRK2 mutations have emerged as a major cause of both familial and sporadic forms, adding to the previously known genes SNCA, PRKN, DJ1 and PINK1.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 162, "end": 167}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Herein we report that the IL-6 is upregulated in balding DP cells compared with non-balding DP cells.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 26, "end": 30}], "disease": [{"text": "balding", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Reducing COL4A1, COL4A2, and EFNA1 by siRNA inhibited pulmonary endothelial adhesion, migration, and tube formation.", "output": {"entities": {"gene": [{"text": "COL4A1", "start": 9, "end": 15}], "disease": [{"text": "adhesion", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The observations made by clinicians close to XP, TTD and CS patients, suggested that transcription defects responsible for brittle hair and nails for TTD, or developmental abnormalities for CS, resulted from TFIIH mutations.", "output": {"entities": {"gene": [{"text": "TFIIH", "start": 208, "end": 213}], "disease": [{"text": "abnormalities", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Our previous study showed that kallistatin plays a role in neointima hyperplasia.", "output": {"entities": {"gene": [{"text": "kallistatin", "start": 31, "end": 42}], "disease": [{"text": "hyperplasia", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "RNA-sequencing of a splenic hemangioma with the karyotype 45 ~ 47, XX, t (3; 6) (q26; p21) showed that this translocation generated a chimeric TBL1XR1-HMGA1 gene.", "output": {"entities": {"gene": [{"text": "TBL1XR1", "start": 143, "end": 150}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.", "output": {"entities": {"gene": [{"text": "caspase 1", "start": 230, "end": 239}], "disease": [{"text": "albuminuria", "start": 33, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase 1", "start": 230, "end": 239}, "tail": {"text": "albuminuria", "start": 33, "end": 44}}]}}, "schema": []}
{"input": "The ETO portion of the fusion protein includes the nervy homology region (NHR) 3 domain, which shares homology with A-kinase anchoring proteins and interacts with the regulatory subunit of type II cAMP-dependent protein kinase A (PKA (RIIα)).", "output": {"entities": {"gene": [{"text": "ETO", "start": 4, "end": 7}], "disease": [{"text": "nervy", "start": 51, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Among the COX-2-dependent prostaglandins (PG) induced upon celecoxib treatment, PGD₂ and 15-deoxy-Δ¹², ¹⁴-PGJ₂ were found to induce a cytosol-to-nucleus translocation of PPARγ as well as a PPARγ-dependent apoptosis.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 170, "end": 175}], "disease": [{"text": "translocation", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The present findings suggest that SJS/TEN is different from allergic diseases such as atopy and asthma because the ratio of each allele in the IL-13 SNP Arg110Gln was the opposite of the ratio in those diseases.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 143, "end": 148}], "disease": [{"text": "atopy", "start": 86, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Normogonadotropic anovulatory infertile patients have a different FSH receptor genotype than do normo-ovulatory controls.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 66, "end": 78}], "disease": [{"text": "infertile", "start": 30, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The p. Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 54, "end": 57}], "disease": [{"text": "deafness", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "T cell immunoglobulin-and mucin-domain-containing molecule 3 (TIM-3) has been established as a negative regulatory molecule and plays a critical role in inflammatory diseases such as rheumatoid arthritis, hepatitis B and C, and human immunodeficiency virus (HIV)-related inflammation.", "output": {"entities": {"gene": [{"text": "TIM-3", "start": 62, "end": 67}], "disease": [{"text": "inflammation", "start": 271, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "No association was seen between lung cancer risk and polymorphisms in CYP1A1 Msp1 or CYP1B1 Leu (432) Val for Caucasians or African Americans, after adjusting for age at diagnosis, sex, pack years of smoking and family history of lung cancer.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 85, "end": 91}], "disease": [{"text": "smoking", "start": 200, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The clinical respiratory scores of RSV bronchiolitis cases with CA12 +/CA12 + and CA12 +/CA12-were 2. 84 ± 0. 40 (SD) and 2. 95 ± 0. 44 (SD), respectively, and these were significantly lower than the 3. 1 ± 0. 36 (SD) score for those with CA12-/CA12-.", "output": {"entities": {"gene": [{"text": "CA12", "start": 64, "end": 68}], "disease": [{"text": "bronchiolitis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Unrelated patients with achromatopsia, macular degeneration with onset under age 50 years, cone degeneration or dysfunction, cone-rod degeneration, or macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel.", "output": {"entities": {"gene": [{"text": "GNAT2 gene", "start": 265, "end": 275}], "disease": [{"text": "macular degeneration", "start": 39, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11. 2-p12. 2.", "output": {"entities": {"gene": [{"text": "p12", "start": 175, "end": 178}], "disease": [{"text": "recurrent ear infections", "start": 91, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The higher concentration of IFN-gamma than IL-4 in the P. endodontalis group suggested a Th1 reaction in the early stage of pulpal inflammation induced by P. endodontalis.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 43, "end": 47}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity of BRCA1, TP53 and TCRD markers analysed in sporadic endometrial cancer.", "output": {"entities": {"gene": [{"text": "TCRD", "start": 42, "end": 46}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "There were significant differences in chemokines (MCP-1, MIP-1 alpha, and MIP-1 beta) levels of BAL fluid between patients with PF and healthy controls (p & lt; 0. 0006).", "output": {"entities": {"gene": [{"text": "MIP-1 beta", "start": 74, "end": 84}], "disease": [{"text": "PF", "start": 128, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MIP-1 beta", "start": 74, "end": 84}, "tail": {"text": "PF", "start": 128, "end": 130}}]}}, "schema": []}
{"input": "Using validated conformational antibodies detecting carboxylated or undercarboxylated GRP (c/uc GRP), we have demonstrated cGRP accumulation in controls, whereas ucGRP was the predominant form in OA-affected tissues, colocalizing at sites of ectopic calcification.", "output": {"entities": {"gene": [{"text": "GRP", "start": 86, "end": 89}], "disease": [{"text": "ectopic calcification", "start": 242, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "These results indicate: (a) a high incidence of the PiZ gene of AAT in systemic vasculitis irrespective of the type of autoantibodies; (b) a novel form of AAT deficiency associated with the normal PiM phenotype becoming manifest only during acute illness; (c) dysregulation of the acute-phase response affecting selectively AAT or both AAT and PCR; (d) correlation between low plasma levels of AAT and less severe renal involvement or risk of death.", "output": {"entities": {"gene": [{"text": "AAT", "start": 64, "end": 67}], "disease": [{"text": "acute-phase response", "start": 281, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "In LNCaP cells, dihydrotestosterone induced CaMKK2 mRNA and protein expression and translocation of CaMKK2 to the nucleus.", "output": {"entities": {"gene": [{"text": "CaMKK2", "start": 44, "end": 50}], "disease": [{"text": "translocation", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of SETDB1 was significantly associated with HCC disease progression, cancer aggressiveness, and poorer prognosis of HCC patients.", "output": {"entities": {"gene": [{"text": "SETDB1", "start": 17, "end": 23}], "disease": [{"text": "aggressiveness", "start": 90, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "PAX5 and various miRNAs might exert regulatory effect on osteopenia via targeting ZFP36L2 and KLF13.", "output": {"entities": {"gene": [{"text": "ZFP36L2", "start": 82, "end": 89}], "disease": [{"text": "osteopenia", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The experimental uveitis was induced in Lewis rats by retinal S-antigen.", "output": {"entities": {"gene": [{"text": "retinal S-antigen", "start": 54, "end": 71}], "disease": [{"text": "uveitis", "start": 17, "end": 24}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "retinal S-antigen", "start": 54, "end": 71}, "tail": {"text": "uveitis", "start": 17, "end": 24}}]}}, "schema": []}
{"input": "Post-treatment with S14080 dose-dependently antagonized the hyperalgesia induced by prostaglandin E2, bradykinin, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8). 3.", "output": {"entities": {"gene": [{"text": "tumour necrosis factor alpha", "start": 197, "end": 225}], "disease": [{"text": "hyperalgesia", "start": 60, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumour necrosis factor alpha", "start": 197, "end": 225}, "tail": {"text": "hyperalgesia", "start": 60, "end": 72}}]}}, "schema": []}
{"input": "Inclusion of previously demonstrated interactions of smoking with LPL, interleukin-6 (IL6), and platelet/endothelial cell adhesion molecule (PECAM1) genotypes increased the A (ROC) to 0. 72 (0. 68-0. 76) for a DR (5) of 19. 1% (P = 0. 01 vs CRF combined with genotypes).", "output": {"entities": {"gene": [{"text": "IL6", "start": 86, "end": 89}], "disease": [{"text": "smoking", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In the presence of hypoxia, the E. coli PNP gene directed by the [HRE] AF promoter were HCC-specifically expressed in two human HCC cell lines and, moreover, the [HRE] AF-PNP/MeP-dR therapy would yield significant and selective cytotoxicity in both AFP-positive and low-AFP-generating HCC cells.", "output": {"entities": {"gene": [{"text": "PNP", "start": 40, "end": 43}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Re-expression of ARHI was achieved by transfection, by treatment with trichostatin A (TSA) or by a combination of TSA and 5-aza-2'-deoxycytidine (DAC) in breast cancer cell cultures and by liposomal delivery of ARHI in breast tumor xenografts.", "output": {"entities": {"gene": [{"text": "DAC", "start": 146, "end": 149}], "disease": [{"text": "breast tumor", "start": 219, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Two mechanisms contribute to CCID formation: ALOX15 via the generation of 12 (S)-HETE by MCF-7 cells, which induces directional migration of LECs, and ICAM-1 in LECs under control of NF-κB, which facilitates adhesion of MCF-7 cells to LECs.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 183, "end": 188}], "disease": [{"text": "adhesion", "start": 208, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the SSAT enzyme in a mouse model results in putrescine accumulation and a phenotype with skin and hair abnormalities reminiscent of human KFSD.", "output": {"entities": {"gene": [{"text": "SSAT", "start": 22, "end": 26}], "disease": [{"text": "KFSD", "start": 156, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SSAT", "start": 22, "end": 26}, "tail": {"text": "KFSD", "start": 156, "end": 160}}]}}, "schema": []}
{"input": "We concluded that anxiety-like behavior occurred in 3xTg-AD mice with an involvement of miR-34a/GRM7.", "output": {"entities": {"gene": [{"text": "miR-34a", "start": 88, "end": 95}], "disease": [{"text": "anxiety", "start": 18, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-34a", "start": 88, "end": 95}, "tail": {"text": "anxiety", "start": 18, "end": 25}}]}}, "schema": []}
{"input": "The growth factor pathway promotes protein synthesis, while the endoplasmic reticulum stress pathway, and other stress pathways activated by viruses and cytokines (IL1B, TNF, Interferons), oxidative stress or starvation, all factors associated with bipolar disorder risk, shuts down protein synthesis via control of the EIF2 alpha and beta translation initiation complex.", "output": {"entities": {"gene": [{"text": "TNF", "start": 170, "end": 173}], "disease": [{"text": "bipolar disorder", "start": 249, "end": 265}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 170, "end": 173}, "tail": {"text": "bipolar disorder", "start": 249, "end": 265}}]}}, "schema": []}
{"input": "The objective was to search for an association between spontaneous preterm birth (sPTB) and single and/or combined polymorphisms in genes TNFA-308 G > A, IL10-1082 G > A, IL10-819 C > T, IL10-592 C > A, IL6-174 G > C, and IFNG + 874 A > T.", "output": {"entities": {"gene": [{"text": "IFNG", "start": 222, "end": 226}], "disease": [{"text": "spontaneous preterm birth", "start": 55, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In a consecutive case series, cross-sectional study of 275 women referred for therapy of hyperlipidemia, (75 [27%] on estrogen replacement therapy [ERT]), our specific aim was to determine whether ERT-mediated thrombophilia and heterozygosity for the thrombophilic 20210 G/A prothrombin gene mutation interacted as risk factors for atherothrombotic cardiovascular disease (ATCVD).", "output": {"entities": {"gene": [{"text": "ERT", "start": 148, "end": 151}], "disease": [{"text": "cardiovascular disease", "start": 349, "end": 371}]}, "relations": {}}, "schema": []}
{"input": "In this study, we showed that ΔNp63 regulates a cohort of genes involved in cell growth, survival, adhesion, and inflammation, which substantially overlaps with the NF-κB transcriptome.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 165, "end": 170}], "disease": [{"text": "adhesion", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 139, "end": 143}], "disease": [{"text": "multiple endocrine neoplasia type I", "start": 23, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 139, "end": 143}, "tail": {"text": "multiple endocrine neoplasia type I", "start": 23, "end": 58}}]}}, "schema": []}
{"input": "We tested associations between demographic, clinical, and genetic data and development of HCC, and developed a simple predictive model in a cohort of patients with chronic hepatitis C and advanced fibrosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 90, "end": 93}], "disease": [{"text": "fibrosis", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "The number and specificity of anti-URGs correlated with the severity of liver disease Anti-URGs were predominantly present among patients with HBV-associated HCC (55. 2%) and cirrhosis (60. 7%), and at a lower frequency among patients with chronic hepatitis (35. 8%), and at still lower frequencies in most asymptomatic carriers (12. 3%) with normal ALT, among patients with chronic hepatitis C (38. 5%) and blood donors (0. 9%).", "output": {"entities": {"gene": [{"text": "HCC", "start": 158, "end": 161}], "disease": [{"text": "chronic hepatitis", "start": 240, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "We investigated microsatellite instability (MSI) and status of mismatch repair (MMR) gene product, MLH1, MSH2 and MSH6, in 63 sporadic endometrial cancers coexisting with colorectal or breast cancer.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 105, "end": 109}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Upon inhalation of formalin-fixed Aspergillus fumigatus hyphal antigens, the overexpression of IDO from airway epithelial cells of these mice reduced the number of CD4 (+) T cells within the inflamed lung and impaired the capacity of antigen-specific splenic CD4 (+) effector T cells to secrete the cytokines IL-4, IL-5, IL-13, and IFN-γ.", "output": {"entities": {"gene": [{"text": "IFN", "start": 332, "end": 335}], "disease": [{"text": "inhalation", "start": 5, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "We studied whether gain-of-function mutations in RANTES gene were associated with asthma and atopy-related traits in Chinese children.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 49, "end": 55}], "disease": [{"text": "atopy", "start": 93, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Midkine acts as proangiogenic cytokine in hypoxia-induced angiogenesis.", "output": {"entities": {"gene": [{"text": "Midkine", "start": 0, "end": 7}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In a variety of well-characterized behavioral tasks, including the elevated plus maze (anxiety-like behavior), forced swim test (depression-like behavior), hot plate (nociception) and two cognition models (passive avoidance and acquisition of conditioned avoidance responding), PDE1B knockout mice performed similarly to wild-type mice.", "output": {"entities": {"gene": [{"text": "PDE1B", "start": 278, "end": 283}], "disease": [{"text": "depression", "start": 129, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE1B", "start": 278, "end": 283}, "tail": {"text": "depression", "start": 129, "end": 139}}]}}, "schema": []}
{"input": "For women, however, systolic and diastolic blood pressures were significantly related to MTP genotype, with the T allele of the polymorphism being associated with low blood pressure.", "output": {"entities": {"gene": [{"text": "MTP", "start": 89, "end": 92}], "disease": [{"text": "low blood pressure", "start": 163, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found.", "output": {"entities": {"gene": [{"text": "FHL1", "start": 31, "end": 35}], "disease": [{"text": "XMPMA", "start": 116, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FHL1", "start": 31, "end": 35}, "tail": {"text": "XMPMA", "start": 116, "end": 121}}]}}, "schema": []}
{"input": "Targeted genotyping revealed BRAF p. Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors).", "output": {"entities": {"gene": [{"text": "BRAF", "start": 29, "end": 33}], "disease": [{"text": "craniopharyngiomas", "start": 67, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRAF", "start": 29, "end": 33}, "tail": {"text": "craniopharyngiomas", "start": 67, "end": 85}}]}}, "schema": []}
{"input": "The mPAP of the 4 week shunt + PPG group was (20. 3 +/-1. 7) mm Hg, significantly higher than that of the 4-week shunt group [(16. 2 +/-1. 5) mm Hg, P < 0. 01].", "output": {"entities": {"gene": [{"text": "PPG", "start": 31, "end": 34}], "disease": [{"text": "shunt", "start": 23, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene.", "output": {"entities": {"gene": [{"text": "MLL2 gene", "start": 112, "end": 121}], "disease": [{"text": "isomerism", "start": 49, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "TRERF1", "start": 90, "end": 96}], "disease": [{"text": "breast tumors", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRERF1", "start": 90, "end": 96}, "tail": {"text": "breast tumors", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "We identified three gene signatures: Chromogranin A (CgA), MAGE-D2 (adhesion), and MTA1 (metastasis) that define gastrointestinal (GI) carcinoids and hypothesize that their expression can delineate gastric neoplasia.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 83, "end": 87}], "disease": [{"text": "adhesion", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that in BRCA2 (LOH) NSCLCs the status of p53 (wild type or mutant) represents a decisive determinant of tumor growth and chromosomal instability.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 31, "end": 36}], "disease": [{"text": "chromosomal instability", "start": 144, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "We now report a novel mutation in PRKAG2 causing Wolff-Parkinson-White syndrome and conduction system disease with onset in childhood and the absence of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 34, "end": 40}], "disease": [{"text": "Wolff-Parkinson-White syndrome", "start": 49, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRKAG2", "start": 34, "end": 40}, "tail": {"text": "Wolff-Parkinson-White syndrome", "start": 49, "end": 79}}]}}, "schema": []}
{"input": "Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "hydroxymethylbilane synthase", "start": 45, "end": 73}], "disease": [{"text": "acute intermittent porphyria", "start": 130, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hydroxymethylbilane synthase", "start": 45, "end": 73}, "tail": {"text": "acute intermittent porphyria", "start": 130, "end": 158}}]}}, "schema": []}
{"input": "The crucial role of NEDD4-1 in neural development is well appreciated; however, its role in neurodegeneration remains unexplored.", "output": {"entities": {"gene": [{"text": "NEDD4-1", "start": 20, "end": 27}], "disease": [{"text": "neurodegeneration", "start": 92, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we conclude that light drinking upregulates, whereas heavy drinking downregulates PON activity and its expression, irrespective of its genetic polymorphism.", "output": {"entities": {"gene": [{"text": "PON", "start": 93, "end": 96}], "disease": [{"text": "heavy drinking", "start": 64, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PON", "start": 93, "end": 96}, "tail": {"text": "heavy drinking", "start": 64, "end": 78}}]}}, "schema": []}
{"input": "Linkage disequilibrium analyses using single SNPs and haplotypes showed no association to bipolar disease. Additional, more powerful, studies involving Cry1 and other circadian clock genes need to be tested before an association of circadian abnormalities with bipolar disorder can be excluded.", "output": {"entities": {"gene": [{"text": "Cry1", "start": 152, "end": 156}], "disease": [{"text": "bipolar disorder", "start": 261, "end": 277}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cry1", "start": 152, "end": 156}, "tail": {"text": "bipolar disorder", "start": 261, "end": 277}}]}}, "schema": []}
{"input": "Polymorphisms of LBP (rs1739654, rs2232596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 124, "end": 129}], "disease": [{"text": "sporadic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Here we show that type II transmembrane protein tenomodulin (TNMD) is upregulated in adipose tissue of insulin-resistant versus insulin-sensitive individuals, who were matched for body mass index (BMI).", "output": {"entities": {"gene": [{"text": "TNMD", "start": 61, "end": 65}], "disease": [{"text": "body mass index", "start": 180, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "To study nonsyndromic progressive sensorineural hearing impairment in patients with a COL11A2 mutation (DFNA13) in a Dutch kindred.", "output": {"entities": {"gene": [{"text": "COL11A2", "start": 86, "end": 93}], "disease": [{"text": "progressive sensorineural hearing impairment", "start": 22, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "At any point during the disease, parkinsonism was the most common movement syndrome reported in 79. 8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12. 2% and 10. 7%, respectively.", "output": {"entities": {"gene": [{"text": "PSPS", "start": 147, "end": 151}], "disease": [{"text": "parkinsonism", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In Ewing' s sarcoma family tumors (ESFTs), the proto-oncogene EWS that encodes an RNA-binding protein is fused by chromosomal translocation to the gene encoding one of the E-twenty six (ETS) family of transcription factors, most commonly friend leukemia virus integration 1 (FLI-1).", "output": {"entities": {"gene": [{"text": "EWS", "start": 62, "end": 65}], "disease": [{"text": "chromosomal translocation", "start": 114, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Significant genes in myeloma plasma cells from patients that were associated with early-onset bortezomib-induced peripheral neuropathy were the enzyme coding genes RHOBTB2 (upregulated by 1 & #183; 59 times; p = 4 & #183; 5 & #215; 10 (-5)), involved in drug-induced apoptosis, CPT1C (1 & #183; 44 times; p = 2 & #183; 9 & #215; 10 (-7)), involved in mitochondrial dysfunction, and SOX8 (1 & #183; 68 times; p = 4 & #183; 28 & #215; 10 (-13)), involved in development of peripheral nervous system.", "output": {"entities": {"gene": [{"text": "SOX8", "start": 382, "end": 386}], "disease": [{"text": "peripheral neuropathy", "start": 113, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOX8", "start": 382, "end": 386}, "tail": {"text": "peripheral neuropathy", "start": 113, "end": 134}}]}}, "schema": []}
{"input": "The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.", "output": {"entities": {"gene": [{"text": "GJC2", "start": 22, "end": 26}], "disease": [{"text": "primary lymphedema", "start": 51, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJC2", "start": 22, "end": 26}, "tail": {"text": "primary lymphedema", "start": 51, "end": 69}}]}}, "schema": []}
{"input": "The approach identified genes that cause retinal degeneration (CNGB1, SEMA4A, RRG4) or developmental changes (SOX2) when mutated.", "output": {"entities": {"gene": [{"text": "CNGB1", "start": 63, "end": 68}], "disease": [{"text": "retinal degeneration", "start": 41, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Thus regulation of TSP-1 might be critical for hyperglycaemic distal tubule hypertrophy.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 19, "end": 24}], "disease": [{"text": "hypertrophy", "start": 76, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that HLA-DRB1 * 0101 and the CD4 status may determine susceptibility to nevirapine hypersensitivity, consistent with a CD4 T-cell-dependent immune response to nevirapine-specific antigens.", "output": {"entities": {"gene": [{"text": "CD4", "start": 48, "end": 51}], "disease": [{"text": "hypersensitivity", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.", "output": {"entities": {"gene": [{"text": "AGBL1", "start": 13, "end": 18}], "disease": [{"text": "Fuchs corneal dystrophy", "start": 45, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGBL1", "start": 13, "end": 18}, "tail": {"text": "Fuchs corneal dystrophy", "start": 45, "end": 68}}]}}, "schema": []}
{"input": "Deficiencies of CoQ10 (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad of recurrent myoglobinuria, brain involvement, and ragged-red fibers; 2) infantile multisystemic disease typically with prominent nephropathy and encephalopathy; 3) cerebellar ataxia with marked cerebellar atrophy; and 4) pure myopathy.", "output": {"entities": {"gene": [{"text": "MIM", "start": 23, "end": 26}], "disease": [{"text": "recurrent myoglobinuria", "start": 142, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "They summarized the evidence for modification by smoking and meat intake, sources of exposure to aromatic and heterocyclic amines, respectively, which are metabolized by NAT2.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 170, "end": 174}], "disease": [{"text": "smoking", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In tumor implanting nude mice model, QKI significantly impeded tumor initiation rates, tumor sizes and lung metastasis rates.", "output": {"entities": {"gene": [{"text": "QKI", "start": 37, "end": 40}], "disease": [{"text": "lung metastasis", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, GRK5 was significantly elevated only in the left ventricle by 68% (P < 0. 05) in the dilated cardiomyopathy hearts and by 48% (P < 0. 01) in volume overload patients, while in contrast, GRK3 remained unchanged in dilated cardiomyopathy, but was slightly elevated by 36% (P = 0. 05) in the right ventricle of the volume overload patients.", "output": {"entities": {"gene": [{"text": "GRK3", "start": 205, "end": 209}], "disease": [{"text": "volume overload", "start": 160, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that SAH can act as the potential molecular biological marker in the promotion of atherogenesis.", "output": {"entities": {"gene": [{"text": "SAH", "start": 28, "end": 31}], "disease": [{"text": "atherogenesis", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A semiquantitative assessment of the immunohistochemistry results revealed a significant correlation between seprase expression and lymph node metastasis.", "output": {"entities": {"gene": [{"text": "seprase", "start": 109, "end": 116}], "disease": [{"text": "lymph node metastasis", "start": 132, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The present results indicate that NRP-1 may be a potentially valuable biomarker and therapeutic target for gastric cancer.", "output": {"entities": {"gene": [{"text": "NRP", "start": 34, "end": 37}], "disease": [{"text": "gastric cancer", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we have developed a novel system for evaluating mechanisms of anti-tumor immunity in vivo, incorporating the GL261-Quad model, 3D volumetric MRI, and picornavirus vaccination to enhance tumor-specific cytotoxic CD8 + T cell responses and track their effectiveness at eradicating established gliomas in vivo.", "output": {"entities": {"gene": [{"text": "MRI", "start": 152, "end": 155}], "disease": [{"text": "tumor immunity", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Thirty-eight soft tissue tumors including atypical fibroxanthoma (n = 5), benign fibrous histiocytoma (FH) (n = 17) and malignant fibrous histiocytoma (MFH) (n = 16) were examined using immunohistochemistry to determine MIB-1, DNA flow cytometry, and p53 (PAb 1801) immunostaining.", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 220, "end": 225}], "disease": [{"text": "soft tissue tumors", "start": 13, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Status epilepticus in the immature brain significantly induced translocation of Omi/HtrA2 from mitochondria into the cytosol, increased cytosolic accumulation of Omi/HtrA2, induced appearance of XIAP-breakdown products and enhanced caspase-3 activity in the selectively vulnerable hippocampal CA1-subfield.", "output": {"entities": {"gene": [{"text": "CA1", "start": 293, "end": 296}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We have identified a 5'-UTR splice acceptor mutation (IVS2-2A & gt; G) in exon 3 of the prestin gene, which is responsible for recessive non-syndromic deafness in two unrelated families.", "output": {"entities": {"gene": [{"text": "prestin", "start": 88, "end": 95}], "disease": [{"text": "deafness", "start": 151, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prestin", "start": 88, "end": 95}, "tail": {"text": "deafness", "start": 151, "end": 159}}]}}, "schema": []}
{"input": "However, there are limited data on PINK1 mutations in sporadic early onset Asian PD patients.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 35, "end": 40}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "A possible role for SCN8A was also proposed in studies examining the genetic basis of attempted suicide and bipolar disorder.", "output": {"entities": {"gene": [{"text": "SCN8A", "start": 20, "end": 25}], "disease": [{"text": "bipolar disorder", "start": 108, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SCN8A", "start": 20, "end": 25}, "tail": {"text": "bipolar disorder", "start": 108, "end": 124}}]}}, "schema": []}
{"input": "The findings indicate that the POLG polymorphism may be a contributing factor in the pathogenesis of TGCT particularly in seminoma, but the mechanisms remain to be elucidated.", "output": {"entities": {"gene": [{"text": "POLG", "start": 31, "end": 35}], "disease": [{"text": "seminoma", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we observed that the MMR-deficient non-neoplastic crypts harbored increased intraepithelial CD8-positive T-lymphocytes similar to the patient' s carcinoma, providing a potential new venue for the study of the natural antitumor immune responses in LS individuals.", "output": {"entities": {"gene": [{"text": "MMR", "start": 35, "end": 38}], "disease": [{"text": "non-neoplastic", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The functional cooperation between HIF-1α and GPER in CAFs was also evidenced in the hypoxia-induced cell migration, which involved a further target of the HIF-1α/GPER signaling like connective tissue growth factor (CTGF).", "output": {"entities": {"gene": [{"text": "CTGF", "start": 216, "end": 220}], "disease": [{"text": "hypoxia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Lentiviral restoration of JunB at the leukemic stage led to loss of leukemic self-renewal capacity and prevented leukemia in NOD-SCID mice into which leukemic PU. 1-knockdown cells were transplanted.", "output": {"entities": {"gene": [{"text": "JunB", "start": 26, "end": 30}], "disease": [{"text": "leukemia", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We found that the frequency of GSTM1 null in the menorrhagia and case groups was not significantly different.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 31, "end": 36}], "disease": [{"text": "menorrhagia", "start": 49, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Injected in the portal vein in 5 healthy and 25 hepatocarcinoma-bearing rats and liver tumors in 9 hepatocarcinoma-bearing rats, Ad-CMV-rNIS drove expression of a functional NIS protein by hepatocytes and allowed marked (from 20 to 30% of the injected dose) and sustained (& gt; 11 days) iodine uptake.", "output": {"entities": {"gene": [{"text": "NIS", "start": 137, "end": 140}], "disease": [{"text": "hepatocarcinoma", "start": 48, "end": 63}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NIS", "start": 137, "end": 140}, "tail": {"text": "hepatocarcinoma", "start": 48, "end": 63}}]}}, "schema": []}
{"input": "In a murine model of hindlimb ischemia, administration of TLR2 (-/-) cKit (+) BMC to WT mice augmented capillary density and reperfusion of ischemic M. gastrocnemius muscle tissue to the level of TLR2 (-/-) mice.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 58, "end": 62}], "disease": [{"text": "ischemia", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Genomic DNA samples from 518 Japanese sporadic prostate cancer patients, 433 controls and 154 Japanese men who were diagnosed as having latent prostate cancer based on autopsy results were genotyped for the TMPRSS2 Met160Val polymorphism using a TaqMan assay.", "output": {"entities": {"gene": [{"text": "TMPRSS2", "start": 207, "end": 214}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that sirtuin1 (SIRT1), an antiaging protein, is reduced in lungs of CS-exposed mice and patients with COPD and that SIRT1 attenuates CS-induced lung inflammation and injury.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 36, "end": 41}], "disease": [{"text": "lung inflammation", "start": 165, "end": 182}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 36, "end": 41}, "tail": {"text": "lung inflammation", "start": 165, "end": 182}}]}}, "schema": []}
{"input": "Accordingly, immunohistochemical analysis showed that ADAMTS-5, but not ADAMTS-4, was highly expressed by carcinoma cells.", "output": {"entities": {"gene": [{"text": "ADAMTS-4", "start": 72, "end": 80}], "disease": [{"text": "carcinoma", "start": 106, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "By activating specific receptors (likely AM2) and the PI3K/Akt/GSK3beta signaling pathway, AM could play a significant role in long-lasting heat hypersensitivity and inflammatory heat hyperalgesia.", "output": {"entities": {"gene": [{"text": "AM", "start": 41, "end": 43}], "disease": [{"text": "hyperalgesia", "start": 184, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AM", "start": 41, "end": 43}, "tail": {"text": "hyperalgesia", "start": 184, "end": 196}}]}}, "schema": []}
{"input": "IL-13 and IL-4R may play an important role in the etiology of RCC.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 0, "end": 5}], "disease": [{"text": "RCC", "start": 62, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-13", "start": 0, "end": 5}, "tail": {"text": "RCC", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.", "output": {"entities": {"gene": [{"text": "PCYT1A", "start": 13, "end": 19}], "disease": [{"text": "spondylometaphyseal dysplasia with cone-rod dystrophy", "start": 87, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCYT1A", "start": 13, "end": 19}, "tail": {"text": "spondylometaphyseal dysplasia with cone-rod dystrophy", "start": 87, "end": 140}}]}}, "schema": []}
{"input": "We confirmed specific deregulation of Fmn2, Arntl2, Bfsp2, Gfra2, Gpm6a, and Gpm6b in B leukemia, of Nln, Fbln1, and Bmp7 in T leukemias, and of Etv5 in both leukemias.", "output": {"entities": {"gene": [{"text": "Bmp7", "start": 117, "end": 121}], "disease": [{"text": "leukemias", "start": 127, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Desmoplastic small round cell tumor is a recently recognized distinctive tumor shown to be associated with a recurrent translocation, t (11; 22) (p13; q12), and rearrangement of the genes for Ewing sarcoma (EWS) and Wilms tumor (WT1).", "output": {"entities": {"gene": [{"text": "EWS", "start": 207, "end": 210}], "disease": [{"text": "translocation", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Expression of tissue PPARgamma, tissue levels of IL-1beta and IL-8, and plasma concentration of gastrin were significantly higher in H. pylori-positive GC compared to controls, but H. pylori eradication significantly reduced these parameters.", "output": {"entities": {"gene": [{"text": "PPARgamma", "start": 21, "end": 30}], "disease": [{"text": "GC", "start": 152, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPARgamma", "start": 21, "end": 30}, "tail": {"text": "GC", "start": 152, "end": 154}}]}}, "schema": []}
{"input": "Increased surface expression of CD18 and CD11b in leukocytes after tourniquet ischemia during elective hand surgery.", "output": {"entities": {"gene": [{"text": "CD18", "start": 32, "end": 36}], "disease": [{"text": "ischemia", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Corresponding analyses were performed restricted to the 2167 individuals with the ischemic large artery stroke (LAS) subtype.", "output": {"entities": {"gene": [{"text": "LAS", "start": 112, "end": 115}], "disease": [{"text": "stroke", "start": 104, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The EWS gene is fused in Ewing sarcoma-like tumors by a chromosomal translocation to one of the four ETS-family genes: FLI1, ERG, ETV1, and E1AF.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 4, "end": 12}], "disease": [{"text": "chromosomal translocation", "start": 56, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Increased eotaxin-mRNA expression in non-atopic and atopic nasal polyps: comparison to RANTES and MCP-3 expression.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 87, "end": 93}], "disease": [{"text": "atopic", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We did not find concordance between numerical chromosome abnormalities of chromosome 17 and nuclear grading as well as with the immunoexpression of p53 and c-erbB2 studied in the smears.", "output": {"entities": {"gene": [{"text": "erbB2", "start": 158, "end": 163}], "disease": [{"text": "chromosome abnormalities", "start": 46, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed mutational analysis of the coding region of the SHOX gene in five DCO and 18 HCH patients, all of whom tested negative for the known HCH-associated FGFR3 mutations.", "output": {"entities": {"gene": [{"text": "SHOX", "start": 76, "end": 80}], "disease": [{"text": "DCO", "start": 94, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SHOX", "start": 76, "end": 80}, "tail": {"text": "DCO", "start": 94, "end": 97}}]}}, "schema": []}
{"input": "The patients with schizophrenia had lower levels of spinophilin mRNA in CA4 (hilus), CA3, the subiculum, and the entorhinal cortex than did the normal comparison subjects.", "output": {"entities": {"gene": [{"text": "CA3", "start": 85, "end": 88}], "disease": [{"text": "schizophrenia", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Metastasis rates were greater in the SDHB + group (78. 9 vs 48. 3%, P <. 001), as was the existence of metastases or multiple PGLs at presentation (38. 5 vs 16. 7%, P <. 05).", "output": {"entities": {"gene": [{"text": "PGLs", "start": 126, "end": 130}], "disease": [{"text": "metastases", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Folate, alcohol, and aldehyde dehydrogenase 2 polymorphism and the risk of oral and pharyngeal cancer in Japanese.", "output": {"entities": {"gene": [{"text": "aldehyde dehydrogenase 2", "start": 21, "end": 45}], "disease": [{"text": "pharyngeal cancer", "start": 84, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In CNE-1 xenograft tumor models in huPBL-nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mice, an intratumoral injection of Ad-p53/GM-CSF/B7-1 resulted in a reduced tumor burden, compared to normal saline (NS) and Ad-p53 controls.", "output": {"entities": {"gene": [{"text": "B7-1", "start": 152, "end": 156}], "disease": [{"text": "severe combined immunodeficiency", "start": 59, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Loss of PTEN (phosphatase and tensin homologue deleted from chromosome 10) function has been implicated in the progression of several types of cancer.", "output": {"entities": {"gene": [{"text": "tensin", "start": 30, "end": 36}], "disease": [{"text": "cancer", "start": 143, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "BAG1", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In asthmatics, three IL13 SNPs-rs1881457 (-1512), rs1800925 (-1111) and rs20541 (R130Q)-were associated with atopy risk.", "output": {"entities": {"gene": [{"text": "IL13", "start": 21, "end": 25}], "disease": [{"text": "atopy", "start": 109, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Notably, tumors with evidence of WTX inactivation, Wilms tumor, hepatoblastoma and rhabdomyosarcoma, are primitive tumors that resemble undifferentiated precursor cells and are linked to overgrowth syndromes.", "output": {"entities": {"gene": [{"text": "WTX", "start": 33, "end": 36}], "disease": [{"text": "overgrowth", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, we found that a single CTL epitope, NEP (375-383), could induce proteinuria and glomerular injury in HLA-A2. 1/K (b) transgenic mice in vivo.", "output": {"entities": {"gene": [{"text": "NEP", "start": 50, "end": 53}], "disease": [{"text": "proteinuria", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The present study demonstrated that antisense oligodeoxynucleotides directed against either exons 1, 2 or 3 of the ORL1/KOR-3 clone reduced orphanin FQ/nociceptin-induced hyperphagia.", "output": {"entities": {"gene": [{"text": "orphanin FQ", "start": 140, "end": 151}], "disease": [{"text": "hyperphagia", "start": 171, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Our results suggested that the novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of FJHN.", "output": {"entities": {"gene": [{"text": "uromodulin", "start": 37, "end": 47}], "disease": [{"text": "FJHN", "start": 204, "end": 208}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "uromodulin", "start": 37, "end": 47}, "tail": {"text": "FJHN", "start": 204, "end": 208}}]}}, "schema": []}
{"input": "Our data confirm that homozygosity for the F46L mutation in the UROD gene causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates.", "output": {"entities": {"gene": [{"text": "UROD gene", "start": 64, "end": 73}], "disease": [{"text": "mild", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion.", "output": {"entities": {"gene": [{"text": "Vps33b", "start": 86, "end": 92}], "disease": [{"text": "ARC syndrome", "start": 26, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Vps33b", "start": 86, "end": 92}, "tail": {"text": "ARC syndrome", "start": 26, "end": 38}}]}}, "schema": []}
{"input": "DNAJB11-associated disease is a phenotypic hybrid of ADPKD and ADTKD, characterized by normal-sized cystic kidneys and progressive interstitial fibrosis resulting in late-onset ESRD.", "output": {"entities": {"gene": [{"text": "DNAJB11", "start": 0, "end": 7}], "disease": [{"text": "ESRD", "start": 177, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNAJB11", "start": 0, "end": 7}, "tail": {"text": "ESRD", "start": 177, "end": 181}}]}}, "schema": []}
{"input": "The present study demonstrated that a founder mutation in most of the Japanese families with FAF, except for a sporadic patient in whom a de novo mutation event was suggested as the origin of the mutation.", "output": {"entities": {"gene": [{"text": "FAF", "start": 93, "end": 96}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of stromal cell-derived factor 1 (SDF-1) expression in microvasculature endothelial cells in retinal ischemia-reperfusion injury.", "output": {"entities": {"gene": [{"text": "stromal cell-derived factor 1", "start": 16, "end": 45}], "disease": [{"text": "retinal ischemia", "start": 106, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We now show that a dinucleotide microsatellite allele in the 5'-flanking sequence of the ACT gene, designated A10, in association with APOE * 4 significantly increases the risk of developing sporadic AD, which accounts for the majority of AD cases.", "output": {"entities": {"gene": [{"text": "ACT", "start": 89, "end": 92}], "disease": [{"text": "sporadic", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "In the total collection of pairs, heritability for ACR (h2 = 0. 27, P < 0. 001) was similar to that for blood pressure.", "output": {"entities": {"gene": [{"text": "ACR", "start": 51, "end": 54}], "disease": [{"text": "blood pressure", "start": 104, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate a strong association between ultrastructural abnormalities in the granular layer of epidermis and ichthyin mutations.", "output": {"entities": {"gene": [{"text": "ichthyin", "start": 120, "end": 128}], "disease": [{"text": "abnormalities", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4).", "output": {"entities": {"gene": [{"text": "IFT54", "start": 106, "end": 111}], "disease": [{"text": "mild", "start": 35, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We report the identification of two heterozygous mutations of the gene for Kir 1. 1 (ROMK) from an antenatal Bartter syndrome patient who presented at birth with mild salt wasting and a biochemical findings that mimicked primary pseudohypoaldosteronism type 1, such as hyperkalemia and hyponatremia, and evolved to a relatively benign course.", "output": {"entities": {"gene": [{"text": "ROMK", "start": 85, "end": 89}], "disease": [{"text": "hyperkalemia", "start": 269, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "We find that IGFBP3 facilitates transforming growth factor (TGF)-beta1-mediated epithelial-to-mesenchymal transition (EMT) in transformed human esophageal epithelial cells, EPC2-hTERT-EGFR-p53 (R175H).", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 13, "end": 19}], "disease": [{"text": "esophageal", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Paternally-inherited Sgce heterozygous knockout (Sgce KO) mice exhibit myoclonus, motor impairment and anxiety-and depression-like behaviors, modeling several clinical symptoms observed in DYT11 M-D patients.", "output": {"entities": {"gene": [{"text": "DYT11", "start": 189, "end": 194}], "disease": [{"text": "depression", "start": 115, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DYT11", "start": 189, "end": 194}, "tail": {"text": "depression", "start": 115, "end": 125}}]}}, "schema": []}
{"input": "Our findings provide evidence of ERK dysregulation, developmental abnormalities in neurogenesis, and behavioral impairment associated with the 16p11. 2 chromosomal deletion.", "output": {"entities": {"gene": [{"text": "ERK", "start": 33, "end": 36}], "disease": [{"text": "chromosomal deletion", "start": 152, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "To this end, we examined Apoe (-/-) mice fed a hypercholesterolemic diet and analysed the expression of key enzymes of the cys-LT pathway and their receptors (CysLT1/CysLT2) in normal and hypoxic myocardium as well as the potential contribution of cys-LT signaling to the acute myocardial response to hypoxia.", "output": {"entities": {"gene": [{"text": "CysLT2", "start": 166, "end": 172}], "disease": [{"text": "hypoxic", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In this case, transient GAD-Ab positivity with susceptible haplotype for type 1 diabetes mellitus might have been induced by a GAD antigen discharged from the destroyed islet due to pancreatitis.", "output": {"entities": {"gene": [{"text": "GAD", "start": 24, "end": 27}], "disease": [{"text": "pancreatitis", "start": 182, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 94, "end": 99}], "disease": [{"text": "generalized epilepsy with febrile seizures plus type 2", "start": 12, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN1A", "start": 94, "end": 99}, "tail": {"text": "generalized epilepsy with febrile seizures plus type 2", "start": 12, "end": 66}}]}}, "schema": []}
{"input": "Pain threshold changes in rats following central injection of beta-endorphin, met-enkephalin, vasopressin or oxytocin antisera.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 62, "end": 76}], "disease": [{"text": "Pain", "start": 0, "end": 4}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "beta-endorphin", "start": 62, "end": 76}, "tail": {"text": "Pain", "start": 0, "end": 4}}]}}, "schema": []}
{"input": "Pin1 interacts with neuronal cytoskeletal proteins such as tau, amyloid-beta protein precursor, alpha-synuclein, and neurofilaments, often in association with phosphorylation events that influence their functions in the neuronal cytoskeleton.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 0, "end": 4}], "disease": [{"text": "amyloid", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we found that CX3CR1 expression was significantly increased in androgen-independent prostate cancer cells, including DU145, PC-3 and PC-3M, following exposure to hypoxia.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 36, "end": 42}], "disease": [{"text": "hypoxia", "start": 184, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.", "output": {"entities": {"gene": [{"text": "natriuretic peptide receptor 2", "start": 110, "end": 140}], "disease": [{"text": "overgrowth", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Of these 11 tumors, 81. 8% lacked expression of MSH2 on IHC, compared with the matched sporadic cases, which all displayed normal expression of MSH2 and MLH1.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 48, "end": 52}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We initially performed DNA sequencing in 45 patients with isolated lissencephaly with a p > a gradient, in whom FISH had revealed normal results.", "output": {"entities": {"gene": [{"text": "FISH", "start": 112, "end": 116}], "disease": [{"text": "lissencephaly", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "A statistically sixfold lower expression of Rasgrf2 was detected in carcinomas whereas no significant change in Ccnb1 expression was observed.", "output": {"entities": {"gene": [{"text": "Rasgrf2", "start": 44, "end": 51}], "disease": [{"text": "carcinomas", "start": 68, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rasgrf2", "start": 44, "end": 51}, "tail": {"text": "carcinomas", "start": 68, "end": 78}}]}}, "schema": []}
{"input": "TRAIL-or DR5-deficient mice were relatively resistant to common bile duct ligation-induced cholestasis, and common bile duct ligation augmented DR5 expression on cholangiocytes, sensitizing mice to DR5-mediated cholangitis.", "output": {"entities": {"gene": [{"text": "DR5", "start": 9, "end": 12}], "disease": [{"text": "cholestasis", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "By using ultrasound, we studied the sizes (absolute and corrected by height, weight and BSA) of the intra-abdominal organs of 18 adult subjects with IGHD (eight females, IGHD group) who have never received GH replacement therapy.", "output": {"entities": {"gene": [{"text": "IGHD", "start": 149, "end": 153}], "disease": [{"text": "weight", "start": 77, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Body mass index (BMI), waist to hip ratio (WHR), systolic blood pressure (SBP), diastolic blood pressure (DBP), serum uric acid, urea nitrogen, creatinine, triglyceride, total cholesterol, low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C) and fasting plasma glucose (FPG) were determined.", "output": {"entities": {"gene": [{"text": "DBP", "start": 106, "end": 109}], "disease": [{"text": "systolic blood pressure", "start": 49, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Also, upregulation of the phosphatidylinositol 3-kinase (PI3K)/Akt-signaling pathway is known to play an important role in drug resistance, and has been implicated in the aggressiveness of a number of different cancers, including T-acute lymphoblastic leukemia (T-ALL).", "output": {"entities": {"gene": [{"text": "PI3K", "start": 57, "end": 61}], "disease": [{"text": "aggressiveness", "start": 171, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to investigate the association of 3' untranslated region (UTR) single-nucleotide polymorphisms (SNPs) in the FGF-21 gene with MetS, obesity, and diabetes in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "UTR", "start": 83, "end": 86}], "disease": [{"text": "diabetes", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Some sporadic tumors do show LOH of BRCA1 and BRCA2.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 46, "end": 51}], "disease": [{"text": "sporadic", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The IGF-IR level was lower in gastrinomas of patients who were rendered disease free and increased levels correlated with tumor growth, aggressiveness, extent, and with liver metastases.", "output": {"entities": {"gene": [{"text": "IGF", "start": 4, "end": 7}], "disease": [{"text": "aggressiveness", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The deletion of LMX1B is responsible for the knee anomalies and the deletion of NR5A1 likely causes the sex reversal.", "output": {"entities": {"gene": [{"text": "LMX1B", "start": 16, "end": 21}], "disease": [{"text": "sex reversal", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "These results expand the phenotypic spectrum associated with PAX2 mutations, which have been shown to lead to congenital abnormalities of the kidney and urinary tract as part of papillorenal syndrome.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 61, "end": 65}], "disease": [{"text": "papillorenal syndrome", "start": 178, "end": 199}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX2", "start": 61, "end": 65}, "tail": {"text": "papillorenal syndrome", "start": 178, "end": 199}}]}}, "schema": []}
{"input": "The HMBS mutations in AIP family members were studied by PCR-SSCP followed by direct sequencing.", "output": {"entities": {"gene": [{"text": "HMBS", "start": 4, "end": 8}], "disease": [{"text": "AIP", "start": 22, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HMBS", "start": 4, "end": 8}, "tail": {"text": "AIP", "start": 22, "end": 25}}]}}, "schema": []}
{"input": "To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM #605253].", "output": {"entities": {"gene": [{"text": "CHN", "start": 242, "end": 245}], "disease": [{"text": "congenital hypomyelinating neuropathy", "start": 203, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Mutation analyses were expanded to three other different paired cell lines, DLD-1 and RDLD-1 (colon cancer cell line), MKN-28 and RMKN-28 (gastric cancer cell line), and TFK-1 and RTFK-1 (cholangiocarcinoma cell line).", "output": {"entities": {"gene": [{"text": "DLD", "start": 76, "end": 79}], "disease": [{"text": "cholangiocarcinoma", "start": 188, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The NAT2 * 6A/any slow acetylation genotype may be a predisposing factor for pancreatic cancer among diabetics with smoking exposure.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 4, "end": 8}], "disease": [{"text": "smoking", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.", "output": {"entities": {"gene": [{"text": "MED12", "start": 115, "end": 120}], "disease": [{"text": "hirschsprung disease", "start": 56, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MED12", "start": 115, "end": 120}, "tail": {"text": "hirschsprung disease", "start": 56, "end": 76}}]}}, "schema": []}
{"input": "In addition, we tested a subset of treatment regimens in three breast cancer models representing distinct breast cancer subtypes: claudin-low (T11 OST), basal-like (C3-TAg GEMM), and luminal B (MMTV-Neu GEMM).", "output": {"entities": {"gene": [{"text": "T11", "start": 143, "end": 146}], "disease": [{"text": "breast cancer", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The HER2 receptor pathway drives breast cancer growth and aggressiveness, and HER2-targeted agents can improve survival in early and advanced disease.", "output": {"entities": {"gene": [{"text": "HER2", "start": 4, "end": 8}], "disease": [{"text": "aggressiveness", "start": 58, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The effect of ACE inhibition on coronary angiogenesis was investigated in a rat model of hypertensive heart failure.", "output": {"entities": {"gene": [{"text": "ACE", "start": 14, "end": 17}], "disease": [{"text": "hypertensive heart failure", "start": 89, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Loss of either of these functions would be expected to lead to chromosomal instability, which is observed in BRCA1 and BRCA2-associated tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 119, "end": 124}], "disease": [{"text": "chromosomal instability", "start": 63, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Connective tissue growth factor (CTGF), a cytokine of the family of growth regulators comprising sef10, cyr61, CTGF and nov, has recently been described in association with scleroderma and other scarring conditions.", "output": {"entities": {"gene": [{"text": "cyr61", "start": 104, "end": 109}], "disease": [{"text": "scarring", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Later age of disease onset and lower incidence of colorectal cancer may contribute to a lower proportion of identified MSH6 mutations in families suspected of HNPCC.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 119, "end": 123}], "disease": [{"text": "colorectal cancer", "start": 50, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH6", "start": 119, "end": 123}, "tail": {"text": "colorectal cancer", "start": 50, "end": 67}}]}}, "schema": []}
{"input": "It is concluded that L-2-hydroxyglutarate is normally metabolized to alpha-ketoglutarate in mammalian tissues and that L-2-hydroxyglutaric aciduria is caused by mutations in the gene that most likely encodes L-2-hydroxyglutarate dehydrogenase.", "output": {"entities": {"gene": [{"text": "L-2-hydroxyglutarate dehydrogenase", "start": 208, "end": 242}], "disease": [{"text": "L-2-hydroxyglutaric aciduria", "start": 119, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L-2-hydroxyglutarate dehydrogenase", "start": 208, "end": 242}, "tail": {"text": "L-2-hydroxyglutaric aciduria", "start": 119, "end": 147}}]}}, "schema": []}
{"input": "In general, our results are similar to previous reports on the value of education, smoking, alcohol consumption, and IL-2 and IL-6 genetic polymorphisms for the prognosis of HNSCC, but the risks due to these variables are small and estimates imprecise.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 126, "end": 130}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We found that a significantly increased risk of cervical cancer was associated with the CC genotype of rs2057482 in the 3 ´-untranslated region (3'-UTR) of HIF-1α (odds ratio (OR), 1. 44; 95% confidence interval (CI), 1. 11-1. 88), compared with the CT/TT genotypes.", "output": {"entities": {"gene": [{"text": "UTR", "start": 148, "end": 151}], "disease": [{"text": "cervical cancer", "start": 48, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Focusing on apoptosis, proliferation, hormone and angiogenesis, we found a group of genes such as thioredoxin domain containing 5, tumor necrosis factor receptor superfamily, member 10a, ribosomal protein S19 and Janus kinase 2 upregulated in AI prostate cancer, could play important roles in the transition from AD to AI and could be biomarkers of prognosis.", "output": {"entities": {"gene": [{"text": "ribosomal protein S19", "start": 187, "end": 208}], "disease": [{"text": "prostate cancer", "start": 246, "end": 261}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ribosomal protein S19", "start": 187, "end": 208}, "tail": {"text": "prostate cancer", "start": 246, "end": 261}}]}}, "schema": []}
{"input": "Immunoprecipitation and immunofluorescence staining revealed that DSG3 silencing disrupted its interaction with plakoglobin and induced plakoglobin translocation from the cytoplasm to the nucleus.", "output": {"entities": {"gene": [{"text": "DSG3", "start": 66, "end": 70}], "disease": [{"text": "translocation", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "p38 activation by both adenovirus-mediated gene delivery of constitutively active p38 activator MKK6 and by arsenite selectively induces cell death in K-ras-activated human colon cancer HCT116 cells but not in the K-ras-disrupted HCT116-derived sublines.", "output": {"entities": {"gene": [{"text": "MKK6", "start": 96, "end": 100}], "disease": [{"text": "adenovirus", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Base-line DBH activities correlated significantly with the level of intoxication for the FHN group (r = 0. 44, p less than 0. 025) with a trend for an inverse correlation with the average drinking history.", "output": {"entities": {"gene": [{"text": "DBH", "start": 10, "end": 13}], "disease": [{"text": "drinking", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Using 3' rapid amplification of cDNA ends (3' RACE) experiments, we isolated an ectopic sequence that was fused to HMGIC in a uterine leiomyoma.", "output": {"entities": {"gene": [{"text": "RACE", "start": 46, "end": 50}], "disease": [{"text": "uterine leiomyoma", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In mice, deletion of TMPRSS6 in vivo has profound effects on the iron phenotype of hemochromatosis and beta-thalassemia.", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 21, "end": 28}], "disease": [{"text": "beta-thalassemia", "start": 103, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "GATA-4 protein is abundantly present in Sertoli and Leydig cell tumors, suggesting a relationship to tumorigenesis or tumor progression in somatic cell-derived testicular neoplasms.", "output": {"entities": {"gene": [{"text": "GATA", "start": 0, "end": 4}], "disease": [{"text": "testicular neoplasms", "start": 160, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "This article reviews the data regarding radiation-associated complications in BRCA1/BRCA2 carriers, then compares the outcomes following breast-conserving surgery and radiotherapy in breast cancer patients with germline mutations and those with sporadic disease.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 84, "end": 89}], "disease": [{"text": "sporadic", "start": 245, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 81, "end": 86}], "disease": [{"text": "FDH", "start": 23, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PORCN", "start": 81, "end": 86}, "tail": {"text": "FDH", "start": 23, "end": 26}}]}}, "schema": []}
{"input": "The genetic association with positivity for GAD autoantibodies (GADAs), IA2 antigen (IA-2A), zinc transporter 8, thyroid peroxidase, gastric parietal cells (PCAs), tissue transglutaminase, and 21-hydroxylase was tested using a linear mixed-model regression approach to simultaneously control for population structure and family relatedness.", "output": {"entities": {"gene": [{"text": "zinc transporter 8", "start": 93, "end": 111}], "disease": [{"text": "regression", "start": 246, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "The lowest absolute 10-year risks for venous thromboembolism in factor V Leiden heterozygotes and homozygotes--0. 7% (CI, 0. 5% to 1. 0%) and 3% (CI, 1% to 8%)--were found in nonsmokers younger than 40 years of age with a body mass index below 25 kg/m2; the corresponding highest risks--10% (CI, 7% to 14%) and 51% (CI, 13% to 100%)--were found in smokers older than 60 years of age with a body mass index above 30 kg/m2.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 64, "end": 79}], "disease": [{"text": "body mass index", "start": 222, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe the use of a CRAd with cancer specific transcriptional control of the essential Ad5 E1A gene using the human CXCR4 gene promoter.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 31, "end": 35}], "disease": [{"text": "cancer", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).", "output": {"entities": {"gene": [{"text": "BSCL2", "start": 69, "end": 74}], "disease": [{"text": "dHMN-V", "start": 29, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BSCL2", "start": 69, "end": 74}, "tail": {"text": "dHMN-V", "start": 29, "end": 35}}]}}, "schema": []}
{"input": "In order to elucidate the significance of both MIN and loss of heterozygosity (LOH) in the pathogenesis of sporadic keratoacanthomas, the presence of MIN and LOH at five loci [chromosome 5q21 (D5S346, APC), 9p21 (D9S171, p16), 10pter (D10S89, Mfd28), 11p (D11S904) and 17p12 (D17S520, p53)] was evaluated.", "output": {"entities": {"gene": [{"text": "p53", "start": 285, "end": 288}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "There was no significant (P > 0. 05) difference in global disc area, global neuroretinal rim area, alpha-parapapillary atrophy, beta-parapapillary atrophy, slope of neuroretinal rim, or visible lamina cribrosa morphology between myocilin mutation carriers and patients with nonmyocilin glaucoma.", "output": {"entities": {"gene": [{"text": "myocilin", "start": 229, "end": 237}], "disease": [{"text": "atrophy", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The influence of G-protein beta3-subunit gene and endothelial nitric oxide synthase gene in exon 7 polymorphisms on progression of autosomal dominant polycystic kidney disease.", "output": {"entities": {"gene": [{"text": "beta3", "start": 27, "end": 32}], "disease": [{"text": "autosomal dominant polycystic kidney disease", "start": 131, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that somatic mutation of TP53 plays less of a role in the carcinogenesis of sporadic non-serous tumors than in that of sporadic serous tumors or BRCA1-related tumors.", "output": {"entities": {"gene": [{"text": "TP53", "start": 45, "end": 49}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrate for the first time the EWSR1-ATF1 translocation in a CCOC and demonstrate a concrete link between CCCs and at least a subset of CCOCs.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 53, "end": 58}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Shp2E76K increased leukemic stem cell frequency and affords MLL-AF9 leukemic cells IL3 cytokine hypersensitivity.", "output": {"entities": {"gene": [{"text": "AF9", "start": 64, "end": 67}], "disease": [{"text": "hypersensitivity", "start": 96, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In addition, controversies exist about the proportion of tumors with APC mutations in the mutation cluster region (MCR); how commonly APC, Ki-ras, and p53 mutations occur in the same tumor; and whether APC mutations occur in sporadic microsatellite-unstable tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 151, "end": 154}], "disease": [{"text": "sporadic", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "We identified a homozygous ATOH7 mutation (N46H) in a large family with an autosomal recessive PHPV disease trait linked to 10q21, and a heterozygous variant (R65G, p. Arg65Gly) in one of five sporadic ONA patients.", "output": {"entities": {"gene": [{"text": "ATOH7", "start": 27, "end": 32}], "disease": [{"text": "PHPV", "start": 95, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATOH7", "start": 27, "end": 32}, "tail": {"text": "PHPV", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "These results confirmed that activation of the KSR1-mediated ERK1/2 signaling pathway may contribute to tumorigenesis, metastasis and chemoresistance of human gastric cancer.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 61, "end": 65}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest transcriptional squelching may be engineered for killing cancer cells, and the SRF gene may represent a novel molecular target for cancer therapeutics.", "output": {"entities": {"gene": [{"text": "SRF", "start": 102, "end": 105}], "disease": [{"text": "cancer", "start": 80, "end": 86}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SRF", "start": 102, "end": 105}, "tail": {"text": "cancer", "start": 80, "end": 86}}]}}, "schema": []}
{"input": "Using the developing zebrafish, we established that the cardiac natriuretic peptide genes (nppa and nppb), known markers of cardiomyocyte hypertrophy and heart failure, were induced in the embryonic heart by pathological cardiac stimuli.", "output": {"entities": {"gene": [{"text": "nppb", "start": 100, "end": 104}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 124, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Both MAP2 and Tau elicited severe neuronal dysfunction and neuritic abnormalities, despite the absence of detergent-insoluble aggregates in worm neurons.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 5, "end": 9}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Urocortin is a novel cardioprotective agent that can protect cardiac myocytes from the damaging effects of ischemia/reperfusion both in culture and in the intact heart and is effective when given at reperfusion.", "output": {"entities": {"gene": [{"text": "Urocortin", "start": 0, "end": 9}], "disease": [{"text": "ischemia", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 24, "end": 29}], "disease": [{"text": "MS", "start": 49, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMAD4", "start": 24, "end": 29}, "tail": {"text": "MS", "start": 49, "end": 51}}]}}, "schema": []}
{"input": "Both mutations segregate with the disease in these four FMTC families and involve the tyrosine kinase domain of RET.", "output": {"entities": {"gene": [{"text": "RET", "start": 112, "end": 115}], "disease": [{"text": "FMTC", "start": 56, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 112, "end": 115}, "tail": {"text": "FMTC", "start": 56, "end": 60}}]}}, "schema": []}
{"input": "Our present findings, combined with data about two previously identified TFAP2B mutations, show that dominant negative effects consistently appear to be involved in the etiology of Char syndrome.", "output": {"entities": {"gene": [{"text": "TFAP2B", "start": 73, "end": 79}], "disease": [{"text": "Char syndrome", "start": 181, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TFAP2B", "start": 73, "end": 79}, "tail": {"text": "Char syndrome", "start": 181, "end": 194}}]}}, "schema": []}
{"input": "ADNP haploinsufficiency in mice, which results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal beclin1 and increased Bcl2 expression (mimicking schizophrenia and normal human aging).", "output": {"entities": {"gene": [{"text": "ADNP", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 191, "end": 204}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADNP", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 191, "end": 204}}]}}, "schema": []}
{"input": "Immunologically, we noted hypogammaglobulinemia with terminal B-cell maturation arrest, dendritic cell deficiency, peripheral eosinopenia, increased double-negative (CD4 (-) CD8 (-)) T cells, and decreased natural killer, T helper 17, and regulatory T-cell numbers.", "output": {"entities": {"gene": [{"text": "CD4", "start": 166, "end": 169}], "disease": [{"text": "hypogammaglobulinemia", "start": 26, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Our preliminary data on pattern of POMC regulation suggests an association with the underweight state rather than with persisting trait markers of AN.", "output": {"entities": {"gene": [{"text": "POMC", "start": 35, "end": 39}], "disease": [{"text": "underweight", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "RASFs lacking C5orf30 exhibit increased cell migration and invasion in vitro, and gene profiling following C5orf30 inhibition confirmed up-regulation of genes involved in cell migration, adhesion, angiogenesis, and immune and inflammatory pathways.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 14, "end": 21}], "disease": [{"text": "adhesion", "start": 187, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.", "output": {"entities": {"gene": [{"text": "COL1A2", "start": 103, "end": 109}], "disease": [{"text": "cardiac valvular form of Ehlers-Danlos syndrome", "start": 25, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A2", "start": 103, "end": 109}, "tail": {"text": "cardiac valvular form of Ehlers-Danlos syndrome", "start": 25, "end": 72}}]}}, "schema": []}
{"input": "Compared to psoriasis, HCR protein had a different distribution in chronic dermatitis, pityriasis rubra pilaris, mycosis fungoides, and chronic skin ulcers.", "output": {"entities": {"gene": [{"text": "HCR", "start": 23, "end": 26}], "disease": [{"text": "pityriasis rubra pilaris", "start": 87, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations in the NF2 gene occur in sporadic tumors, but their relation to tumor behavior is unknown.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 25, "end": 33}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Familial LPL deficiency is a rare inborn error of metabolism caused by mutational change within the LPL gene, which leads to massive hypertriglyceridemia.", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 100, "end": 108}], "disease": [{"text": "inborn error of metabolism", "start": 34, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.", "output": {"entities": {"gene": [{"text": "EBF3", "start": 190, "end": 194}], "disease": [{"text": "colon cancer", "start": 219, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Recently, a polymorphism of single nucleotide polymorphism SNP rs2645424 of farnesyl diphosphate farnesyl transferase 1 (FDFT1) was identified in NAFLD/NASH as a possible causal link to steatosis and fibrosis progression.", "output": {"entities": {"gene": [{"text": "FDFT1", "start": 121, "end": 126}], "disease": [{"text": "fibrosis", "start": 200, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Pfeiffer syndrome (PS) (MIM 101600) is one of the most common syndromic forms of craniosynostosis.", "output": {"entities": {"gene": [{"text": "MIM", "start": 24, "end": 27}], "disease": [{"text": "craniosynostosis", "start": 81, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite markers were used to screen candidate loci including the epidermal differentiation complex on 1q, the desmoplakin locus on 6p, the type I and II keratin gene clusters on chromosomes 12q and 17q, and the desmosomal cadherin gene cluster on chromosome 18q.", "output": {"entities": {"gene": [{"text": "desmoplakin", "start": 117, "end": 128}], "disease": [{"text": "epidermal differentiation complex", "start": 72, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.", "output": {"entities": {"gene": [{"text": "Otx2", "start": 42, "end": 46}], "disease": [{"text": "FASD", "start": 95, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Otx2", "start": 42, "end": 46}, "tail": {"text": "FASD", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "Although the conjugated peptides were inactive in vivo, an unconjugated retro-inverso analog of the native TSP peptide inhibited breast tumor growth in a mouse xenograft model.", "output": {"entities": {"gene": [{"text": "TSP", "start": 107, "end": 110}], "disease": [{"text": "breast tumor", "start": 129, "end": 141}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TSP", "start": 107, "end": 110}, "tail": {"text": "breast tumor", "start": 129, "end": 141}}]}}, "schema": []}
{"input": "Our findings support the hypothesis that RYR1 mutations are associated with King-Denborough syndrome but that further genetic heterogeneity is likely.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 41, "end": 45}], "disease": [{"text": "King-Denborough syndrome", "start": 76, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RYR1", "start": 41, "end": 45}, "tail": {"text": "King-Denborough syndrome", "start": 76, "end": 100}}]}}, "schema": []}
{"input": "Studies have shown that a two-gene ratio (HOXB13: IL17BR) and a five-gene (BUB1B, CENPA, NEK2, RACGAP1, RRM2) molecular grade index (MGI) are predictive of clinical outcomes among early-stage breast cancer patients.", "output": {"entities": {"gene": [{"text": "CENPA", "start": 82, "end": 87}], "disease": [{"text": "early-stage breast cancer", "start": 180, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "[Study on expression of cell surface L-selectin and soluble L-selectin in patients with acute leukemia].", "output": {"entities": {"gene": [{"text": "L-selectin", "start": 37, "end": 47}], "disease": [{"text": "acute leukemia", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Several genes novel to testicular tumorigenesis were consistently up-or down-regulated, including POV1, MYCL1, MYBL2, MXI1, and DNMT2.", "output": {"entities": {"gene": [{"text": "MYBL2", "start": 111, "end": 116}], "disease": [{"text": "tumorigenesis", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In normotensive subjects with a positive family history of hypertension, in contrast to control subjects without such history, hyperinsulinaemia caused a marked decrease in urinary sodium excretion in presence of unchanged RPF and GFR indicating a renal tubular effect of insulin located at distal site of the renal tubules.", "output": {"entities": {"gene": [{"text": "GFR", "start": 231, "end": 234}], "disease": [{"text": "hyperinsulinaemia", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we propose that during the process of metastasis, cancer cells experience changes in cell morphology, resulting in the increased production and secretion of GDF15 into the surrounding environment.", "output": {"entities": {"gene": [{"text": "GDF15", "start": 173, "end": 178}], "disease": [{"text": "metastasis", "start": 54, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDF15", "start": 173, "end": 178}, "tail": {"text": "metastasis", "start": 54, "end": 64}}]}}, "schema": []}
{"input": "Absence of αB crystallin augmented retinal degeneration in low dose (20 mg/kg) NaIO3-treated mice and increased retinal cell apoptosis which was mainly localized to the RPE layer.", "output": {"entities": {"gene": [{"text": "RPE", "start": 169, "end": 172}], "disease": [{"text": "retinal degeneration", "start": 35, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J-shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2-hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup.", "output": {"entities": {"gene": [{"text": "MRI", "start": 22, "end": 25}], "disease": [{"text": "enlargement", "start": 147, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "While these differences may represent differential behaviour of synovial fibroblasts in in vitro culture, these observations suggest that TFPI2, GRObeta (CXCL2), MnSOD and GCP-2 (CXCL6) may represent new targets for treatments specifically tailored to osteoarthritis.", "output": {"entities": {"gene": [{"text": "CXCL2", "start": 154, "end": 159}], "disease": [{"text": "osteoarthritis", "start": 252, "end": 266}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CXCL2", "start": 154, "end": 159}, "tail": {"text": "osteoarthritis", "start": 252, "end": 266}}]}}, "schema": []}
{"input": "Thus, beta-catenin mutations may have more importance in the genesis of adenomas than ACF or adenocarcinomas in rat colon carcinogens by PhIP.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 6, "end": 18}], "disease": [{"text": "ACF", "start": 86, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-catenin", "start": 6, "end": 18}, "tail": {"text": "ACF", "start": 86, "end": 89}}]}}, "schema": []}
{"input": "Similar results were obtained for HDL (2)-C. In conclusion, SR-BI gene variation modulates the lipid profile, particularly in type 2 diabetes, contributing to the metabolic abnormalities in these subjects.", "output": {"entities": {"gene": [{"text": "SR-BI", "start": 60, "end": 65}], "disease": [{"text": "abnormalities", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS +) to the severe infant-onset epilepsy Dravet syndrome.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 83, "end": 88}], "disease": [{"text": "mild", "start": 162, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Vincristine-treated rats (0. 1mg/kg, daily i. p. administration for two 5-day cycles) developed thermal allodynia and mechanical hypersensitivity, which decreased in a dose-related manner after epidural injection a 5-HT2A receptor antagonist.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 215, "end": 221}], "disease": [{"text": "thermal allodynia", "start": 96, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2A", "start": 215, "end": 221}, "tail": {"text": "thermal allodynia", "start": 96, "end": 113}}]}}, "schema": []}
{"input": "In this study, we show that Spz1, a bHLH-zip transcription factor, acts downstream of mitogen-activated protein kinase (MAPK, extracellular signal-regulated kinase 1/2) to up-regulate cell proliferation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "extracellular signal-regulated kinase 1", "start": 126, "end": 165}], "disease": [{"text": "tumorigenesis", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that significantly higher IL-1beta responses to toxic shock syndrome toxin (TSST) noted for parents of sudden infant death syndrome (SIDS) infants might be due in part to genetic factors such as the IL-1beta (C-511T) and IL-1RN (T + 2018C) single nucleotide polymorphisms (SNP).", "output": {"entities": {"gene": [{"text": "IL-1RN", "start": 246, "end": 252}], "disease": [{"text": "toxic shock syndrome", "start": 73, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "For rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and osteoarthritis diseases, those common factors include TNFSF10, CX3CR1, LY96, TLR5, TXN, TIA1, PRKCH, and PRF1.", "output": {"entities": {"gene": [{"text": "PRKCH", "start": 177, "end": 182}], "disease": [{"text": "systemic lupus erythematosus", "start": 26, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.", "output": {"entities": {"gene": [{"text": "ITGB3", "start": 96, "end": 101}], "disease": [{"text": "Glanzmann thrombasthenia", "start": 48, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB3", "start": 96, "end": 101}, "tail": {"text": "Glanzmann thrombasthenia", "start": 48, "end": 72}}]}}, "schema": []}
{"input": "In agreement with this exceptionally mild BBS1-associated phenotype, we did not detect obvious ciliary defects in patient-derived cells.", "output": {"entities": {"gene": [{"text": "BBS1", "start": 42, "end": 46}], "disease": [{"text": "mild", "start": 37, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Treatment with diphenyleneiodonium, a nicotinamide adenine dinucleotide phosphate oxidase (NOX) inhibitor, blocked glyLDL-induced translocation of H-Ras, elevated abundances of HSF1 and PAI-1 in EC, and increased release of hydrogen peroxide from EC.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 177, "end": 181}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "DNA sequences of HBV basal core promoter (BCP) and the overlapping X gene were determined in 58 HCC and 71 chronic hepatitis (CH) patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 96, "end": 99}], "disease": [{"text": "chronic hepatitis", "start": 107, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Using tissue microarrays consisting of 448 cases of melanomas (201 for the training set and 247 for the validation set) and 105 cases of nevi, we found that Tip60 expression was significantly reduced in metastatic melanoma compared to common nevi (P = 0. 045), dysplastic nevi (P = 0. 047), and primary melanoma (P = 0. 001).", "output": {"entities": {"gene": [{"text": "Tip60", "start": 157, "end": 162}], "disease": [{"text": "metastatic melanoma", "start": 203, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In addition, Task2 (-/-) mice lost the long-term hypoxia-induced respiratory decrease whereas the acute carotid-body-mediated increase was maintained.", "output": {"entities": {"gene": [{"text": "Task2", "start": 13, "end": 18}], "disease": [{"text": "hypoxia", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "During the early stages of acute pancreatitis, alpha-amylase absorbed from AF through the gastrointestinal tract could interfere with the binding of XDH/XOD attached to glycoproteins of the endothelial cells.", "output": {"entities": {"gene": [{"text": "XDH", "start": 149, "end": 152}], "disease": [{"text": "acute pancreatitis", "start": 27, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized lipodystrophy (CGL), and some cases with Barraquer-Simons acquired partial lipodystrophy (APL).", "output": {"entities": {"gene": [{"text": "MAD", "start": 146, "end": 149}], "disease": [{"text": "familial partial lipodystrophy", "start": 54, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to determine the relation of EPH tyrosine kinase receptor B2 (EPHB2) A9 region mutation and microsatellite instability (MSI); and to analyze their influence in prognosis of patients with sporadic colorectal cancer (CRC).", "output": {"entities": {"gene": [{"text": "EPHB2", "start": 95, "end": 100}], "disease": [{"text": "sporadic", "start": 220, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "To explore the status of this gene in the acute depressive state we have quantified the expression of RNF123 in the blood leukocytes (N = 17), dorsolateral prefrontal and cingulate cortex (N = 24) of patients with diagnosed depression and of matched controls.", "output": {"entities": {"gene": [{"text": "RNF123", "start": 102, "end": 108}], "disease": [{"text": "depression", "start": 224, "end": 234}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNF123", "start": 102, "end": 108}, "tail": {"text": "depression", "start": 224, "end": 234}}]}}, "schema": []}
{"input": "Moreover, two inhibitors of anoctamin ion channels, tannic acid and a more selective inhibitor of anoctamin 1, significantly inhibited PLC cyst growth and cyst enlargement in an embryonic kidney cyst model.", "output": {"entities": {"gene": [{"text": "PLC", "start": 135, "end": 138}], "disease": [{"text": "kidney cyst", "start": 188, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Relative mRNA level of KCNQ5 (p = 0. 025) was significantly downregulated in CDH lungs compared to controls.", "output": {"entities": {"gene": [{"text": "KCNQ5", "start": 23, "end": 28}], "disease": [{"text": "CDH", "start": 77, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KCNQ5", "start": 23, "end": 28}, "tail": {"text": "CDH", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "In many cases we could not specifically differentiate skin strains or throat strains that could be associated with ARF or acute glomerulonephritis.", "output": {"entities": {"gene": [{"text": "ARF", "start": 115, "end": 118}], "disease": [{"text": "acute glomerulonephritis", "start": 122, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Our qualitative protein profiling strategy offers the first comprehensive analysis of the gastric cancer cell proteome, identifying 926 and 909 proteins from SC-M1 and TMC-1 cells, respectively.", "output": {"entities": {"gene": [{"text": "TMC", "start": 168, "end": 171}], "disease": [{"text": "gastric cancer", "start": 90, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "IFT122", "start": 6, "end": 12}], "disease": [{"text": "cranioectodermal dysplasia", "start": 64, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT122", "start": 6, "end": 12}, "tail": {"text": "cranioectodermal dysplasia", "start": 64, "end": 90}}]}}, "schema": []}
{"input": "After 24 weeks on a high-fat diet (HFD), obesity, insulin resistance, hepatic steatosis and inflammatory responses are significantly ameliorated in liver-specific TRAF3-knockout mice, but exacerbated in transgenic mice overexpressing TRAF3 in hepatocytes.", "output": {"entities": {"gene": [{"text": "TRAF3", "start": 163, "end": 168}], "disease": [{"text": "insulin resistance", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "This mechanism may contribute to genomic instability and provide justification for targeting PARP1 and/or RAD52 to induce synthetic lethality in \" BRCAness \" CML and BCR-ABL1-positive ALL cells.", "output": {"entities": {"gene": [{"text": "BCR", "start": 166, "end": 169}], "disease": [{"text": "genomic instability", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Correspondingly, severe combined immunodeficiency-repopulating cells were increased 2. 9-fold during a 7-day culture with NR-101 compared to freshly isolated CD34 (+) cells, and 2. 3-fold compared to that with TPO.", "output": {"entities": {"gene": [{"text": "TPO", "start": 210, "end": 213}], "disease": [{"text": "severe combined immunodeficiency", "start": 17, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Database comparisons with EAF2 identified a region with a high content of serine, aspartic acid, and glutamic acid residues that is conserved with EAF1 and exhibited amino acid similarity with several translocation partner proteins of MLL, including AF4 and ENL.", "output": {"entities": {"gene": [{"text": "EAF1", "start": 147, "end": 151}], "disease": [{"text": "translocation", "start": 201, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Both the rat pituitary tumor cell line AtT-20 and the human myeloid leukemia cell line K562, contained proopiomelanocortin (POMC) mRNA.", "output": {"entities": {"gene": [{"text": "POMC", "start": 124, "end": 128}], "disease": [{"text": "myeloid leukemia", "start": 60, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Animals treated with IGF-I also gained weight compared to controls, but this weight gain was less than that seen in GH-treated rats.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 21, "end": 26}], "disease": [{"text": "weight gain", "start": 77, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietic protoporphyria (EPP) is an inherited disease characterised by a ferrochelatase (FECH) deficiency, the latest enzyme of the heme biosynthetic pathway, leading to the accumulation of toxic protoporphyrin in the liver, bone marrow and spleen.", "output": {"entities": {"gene": [{"text": "ferrochelatase", "start": 79, "end": 93}], "disease": [{"text": "Erythropoietic protoporphyria", "start": 0, "end": 29}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ferrochelatase", "start": 79, "end": 93}, "tail": {"text": "Erythropoietic protoporphyria", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "We sequenced the FP/TMEM127 gene in 990 individuals with pheochromocytomas and/or paragangliomas, including 898 previously unreported cases without mutations in other susceptibility genes from 8 independent worldwide referral centers between January 2009 and June 2010.", "output": {"entities": {"gene": [{"text": "TMEM127", "start": 20, "end": 27}], "disease": [{"text": "pheochromocytomas", "start": 57, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM127", "start": 20, "end": 27}, "tail": {"text": "pheochromocytomas", "start": 57, "end": 74}}]}}, "schema": []}
{"input": "Wnt4 expression is induced throughout the collecting ducts in four murine models of renal injury that produce tubulointerstitial fibrosis: folic acid-induced nephropathy, unilateral ureteral obstruction, renal needle puncture, and genetic polycystic kidney disease.", "output": {"entities": {"gene": [{"text": "Wnt4", "start": 0, "end": 4}], "disease": [{"text": "nephropathy", "start": 158, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Wnt4", "start": 0, "end": 4}, "tail": {"text": "nephropathy", "start": 158, "end": 169}}]}}, "schema": []}
{"input": "After aortic endothelial denudation, NOS3 null mice show elevated neointima formation, detecting increased mobilization of LSK (lineage-negative [Lin]-stem-cell antigen 1 [SCA1] + KIT +) progenitor cells, and high ratios of M1 (proinflammatory) to M2 (resolving) macrophages, accompanied by high expression of interleukin-5, interleukin-6, MCP-1 (monocyte chemoattractant protein), VEGF (vascular endothelial growth factor), GM-CSF (granulocyte-macrophage colony stimulating factor), interleukin-1β, and interferon-γ.", "output": {"entities": {"gene": [{"text": "interleukin-5", "start": 310, "end": 323}], "disease": [{"text": "neointima formation", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "RNAi-mediated silencing of hepatic TTR expression inhibited TTR deposition and facilitated regression of existing TTR deposits in pathologically relevant tissues.", "output": {"entities": {"gene": [{"text": "TTR", "start": 35, "end": 38}], "disease": [{"text": "regression", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "X-linked inhibitor of apoptosis (XIAP) deficiency, caused by mutations in BIRC4, is an immunodeficiency associated with immune dysregulation and a highly variable clinical presentation.", "output": {"entities": {"gene": [{"text": "BIRC4", "start": 74, "end": 79}], "disease": [{"text": "immune dysregulation", "start": 120, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Moreover, resveratrol treatment of hyperglycemic IRS2 (-/-) mice decreased hepatic PTP1B mRNA and inhibited PTP1B activity, thereby restoring IRS1-mediated PI 3-kinase/Akt/Foxo1 signaling and peripheral insulin sensitivity.", "output": {"entities": {"gene": [{"text": "Foxo1", "start": 172, "end": 177}], "disease": [{"text": "insulin sensitivity", "start": 203, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21. 2-p22. 2.", "output": {"entities": {"gene": [{"text": "p22", "start": 116, "end": 119}], "disease": [{"text": "keratosis follicularis spinulosa decalvans", "start": 20, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients.", "output": {"entities": {"gene": [{"text": "ERBB2IP", "start": 33, "end": 40}], "disease": [{"text": "translocation", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We describe a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents.", "output": {"entities": {"gene": [{"text": "KLF1", "start": 118, "end": 122}], "disease": [{"text": "kernicterus", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The t (12: 21) translocation fuses the TEL and AML1 genes and has been found in up to 28% of paediatric B-cell precursor acute lymphoblastic leukaemias (BCP-ALL).", "output": {"entities": {"gene": [{"text": "BCP", "start": 153, "end": 156}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The overlapping clinical and neuropathologic features between late-onset apparently sporadic Alzheimer' s disease (LOAD), familial Alzheimer' s disease (FAD), and other neurodegenerative dementias (frontotemporal dementia, corticobasal degeneration, progressive supranuclear palsy, and Creutzfeldt-Jakob disease) raise the question of whether shared genetic risk factors may explain the similar phenotype among these disparate disorders.", "output": {"entities": {"gene": [{"text": "FAD", "start": 153, "end": 156}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Gas6 expression is most abundant in lesions containing high amounts of macrophages, ie thin fibrous cap atheroma and ruptured plaque.", "output": {"entities": {"gene": [{"text": "Gas6", "start": 0, "end": 4}], "disease": [{"text": "atheroma", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The findings suggest that the TNF-alpha G-308A polymorphism does not mediate the effect of smoking on plasma CRP levels.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 30, "end": 39}], "disease": [{"text": "smoking", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The Royal College of Surgeons (RCS) rat is a widely studied animal model of retinal degeneration in which the inability of the retinal pigment epithelium (RPE) to phagocytize shed photoreceptor outer segments leads to a progressive loss of rod and cone photoreceptors.", "output": {"entities": {"gene": [{"text": "RPE", "start": 155, "end": 158}], "disease": [{"text": "retinal degeneration", "start": 76, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Risk factors examined were antithrombin, protein C and protein S levels, factor V Leiden, the prothrombin G20210A mutation, the methylenetetrahydrofolate reductase C677T polymorphism, and acquired thrombophilic risk factors, including anticardiolipin antibodies, lupus anticoagulant, and serum homocysteine levels.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 128, "end": 163}], "disease": [{"text": "lupus anticoagulant", "start": 263, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "PTX3-deficient mice showed defective control of UTIs and exacerbated inflammation.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of DCD in breast tumorigenesis, we analyzed the consequences of its downregulation in human breast cancer cell lines using three specific shRNA lentiviral vectors.", "output": {"entities": {"gene": [{"text": "DCD", "start": 27, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In pancreatic cancer cells, unlike childhood sarcoma, STAT-3, rather than RPS6, is activated in response to IGF-1, in a RON-dependent manner.", "output": {"entities": {"gene": [{"text": "RPS6", "start": 74, "end": 78}], "disease": [{"text": "pancreatic cancer", "start": 3, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the interaction between GSTP1 Val allele and Helicobacter pylori infection, smoking and alcohol consumption, increasing the risk of gastric cancer among the Chinese population.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 37, "end": 42}], "disease": [{"text": "alcohol consumption", "start": 101, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "All 16 probands exhibited characteristic BVMD fundus appearances, abnormal EOG, and normal ERG responses with the exception of one diabetic retinopathy proband.", "output": {"entities": {"gene": [{"text": "ERG", "start": 91, "end": 94}], "disease": [{"text": "diabetic retinopathy", "start": 131, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "HDAC4, a prognostic and chromosomal instability marker, refines the predictive value of MGMT promoter methylation.", "output": {"entities": {"gene": [{"text": "HDAC4", "start": 0, "end": 5}], "disease": [{"text": "chromosomal instability", "start": 24, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The serum concentration of the inter-alpha trypsin inhibitor heavy chain 4 protein (ITIH4) increases (from 1. 4-3 times) in male patients suffering of different acute-phase processes (myocardial infarction, unstable angina or programmed surgery).", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 61, "end": 72}], "disease": [{"text": "myocardial infarction", "start": 184, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Since SphK-1 is overexpressed in EC from brain tumors, these data also suggest that this kinase and its product could contribute to the acquisition and the maintenance of the multidrug resistance phenotype in brain tumor-derived endothelial cells.", "output": {"entities": {"gene": [{"text": "SphK", "start": 6, "end": 10}], "disease": [{"text": "brain tumor", "start": 41, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine whether GNAI2 variations modulate the risk for these abnormalities.", "output": {"entities": {"gene": [{"text": "GNAI2", "start": 47, "end": 52}], "disease": [{"text": "abnormalities", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "To determine which ABC transporter was expressed differently in patients with hepatic viral infection, we assayed the expression of MDR1, MDR3, MRP1, MRP2, and MRP3 in non-cancerous regions in the liver of 42 patients with hepatic tumors using both quantitative RT-PCR and immunological staining analysis, and compared the hepatic expression levels between patients with hepatitis viral infection and non-infected controls.", "output": {"entities": {"gene": [{"text": "MRP1", "start": 144, "end": 148}], "disease": [{"text": "hepatitis viral", "start": 371, "end": 386}]}, "relations": {}}, "schema": []}
{"input": "The NUP98-HOXD13 fusion transcript generated by the translocation was detected in the patient' s bone marrow cells by reverse transcription-polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "NUP98", "start": 4, "end": 9}], "disease": [{"text": "translocation", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Quantitative real-time polymerase chain reaction revealed that AIPC and extra-pancreatobiliary lesions had significantly higher ratios of interleukin (IL)-4/interferon-gamma (IFN-gamma) (45. 8-fold), IL-5/IFN-gamma (18. 7-fold), IL-13/interferon (IFN)-gamma (20. 7-fold), IL-10/CD4 (45. 3-fold), and tumor growth factor (TGF)-beta/CD4 (39. 4-fold) than did primary sclerosing cholangitis (PSC) and primary biliary cirrhosis (PBC).", "output": {"entities": {"gene": [{"text": "IFN", "start": 175, "end": 178}], "disease": [{"text": "primary sclerosing cholangitis", "start": 357, "end": 387}]}, "relations": {}}, "schema": []}
{"input": "Patients with chronic hepatitis and liver cirrhosis, conditions which are frequent precursors to HCC, were negative for these autoantibodies, suggesting that the immune response might be related to cellular events leading to transformation.", "output": {"entities": {"gene": [{"text": "HCC", "start": 97, "end": 100}], "disease": [{"text": "chronic hepatitis", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The odds ratio of the-250 A hepatic lipase allele for the PAD was 1. 69 (95% confidence interval of 1. 08-2. 64), when adjusted for current smoking, arterial hypertension, cholesterol, triglycerides, HbA (1C), total homocysteine and high sensitivity C-reactive protein.", "output": {"entities": {"gene": [{"text": "hepatic lipase", "start": 28, "end": 42}], "disease": [{"text": "smoking", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.", "output": {"entities": {"gene": [{"text": "PTPRQ", "start": 60, "end": 65}], "disease": [{"text": "DFNB84", "start": 88, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTPRQ", "start": 60, "end": 65}, "tail": {"text": "DFNB84", "start": 88, "end": 94}}]}}, "schema": []}
{"input": "The TSN from uveal melanoma cell lines is capable of affecting the chemotactic response and maturation of monocytes in vitro, but this is irrespective of hypoxia.", "output": {"entities": {"gene": [{"text": "TSN", "start": 4, "end": 7}], "disease": [{"text": "uveal melanoma", "start": 13, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of the renin gene were associated with blood pressure levels and risk of hypertension in women over 40 years old.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 21, "end": 31}], "disease": [{"text": "blood pressure", "start": 53, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "PCR-SSCP analysis followed by direct sequencing revealed that TP53 mutations account for 40% (12/30) of sporadic Kangri cancer patients and that PTEN mutations account for only 6. 6% (2/30).", "output": {"entities": {"gene": [{"text": "TP53", "start": 62, "end": 66}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We undertook detailed neuropathology on surgically resected brain tissue of two patients with intractable mesial temporal lobe epilepsy (MTLE), who had the same heterozygous NDE1-containing 800 kb 16p13. 11 deletion, using routine histological stains and immunohistochemical markers against a range of layer-specific, white matter, neural precursor and migratory cell proteins, and NDE1 itself.", "output": {"entities": {"gene": [{"text": "NDE1", "start": 174, "end": 178}], "disease": [{"text": "temporal lobe epilepsy", "start": 113, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The additive effects of PC and EPO on infarct size were mirrored by their effects on the level of phosphorylated GSK-3 beta at 5 min after reperfusion but not their effects on the level of phospho-Akt or phospho-STAT3.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 212, "end": 217}], "disease": [{"text": "infarct", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We now report that deficiency for Artemis (encoded by Dclre1c/Art in mouse) accelerates tumorigenesis in several tissues in a Trp53 heterozygous setting, revealing tumor suppression roles for NHEJ in lymphoid and non-lymphoid cells.", "output": {"entities": {"gene": [{"text": "Dclre1c", "start": 54, "end": 61}], "disease": [{"text": "tumorigenesis", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We also conclude that blocking & #945; 7nAchR reduces the phosphorylation of STAT3, increases the expression of TNF-& #945; and IL-6, aggravating viral myocarditis.", "output": {"entities": {"gene": [{"text": "TNF", "start": 112, "end": 115}], "disease": [{"text": "myocarditis", "start": 152, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 112, "end": 115}, "tail": {"text": "myocarditis", "start": 152, "end": 163}}]}}, "schema": []}
{"input": "The adhesion-promoting effects of HO-1 were dependent on PXDN expression, as loss of PXDN in HO-1 expressing BeWo and 607B cells led to reduced cell attachment to Laminin and Fibronectin coated wells.", "output": {"entities": {"gene": [{"text": "PXDN", "start": 57, "end": 61}], "disease": [{"text": "adhesion", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "In mouse models, genetic inactivation of Notch signaling leads to Erk1/2 phosphorylation, resulting in tumorigenesis in the urinary tract.", "output": {"entities": {"gene": [{"text": "Erk1", "start": 66, "end": 70}], "disease": [{"text": "tumorigenesis", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "There is a complex heterozygous mutation of PDE6B gene responsible for a sporadic RP patient in China.", "output": {"entities": {"gene": [{"text": "PDE6B gene", "start": 44, "end": 54}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene have frequently been detected not only in schwannomas and other central nervous system tumors of NF2 patients but also in their sporadic counterparts and malignant tumors unrelated to the NF2 syndrome such as malignant mesothelioma, indicating a broader role for the NF2 gene in human tumorigenesis.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 332, "end": 340}], "disease": [{"text": "sporadic", "start": 193, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Repeated subcutaneous injections of parathyroid hormone-related protein into the hind-paw also induced hyperalgesia with increased osteoclastic bone resorption.", "output": {"entities": {"gene": [{"text": "parathyroid hormone-related protein", "start": 36, "end": 71}], "disease": [{"text": "hyperalgesia", "start": 103, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "parathyroid hormone-related protein", "start": 36, "end": 71}, "tail": {"text": "hyperalgesia", "start": 103, "end": 115}}]}}, "schema": []}
{"input": "We found that like HTNV N, the N proteins of HFRS-causing Seoul and Dobrava viruses inhibited TNF-alpha activation of NF-kappaB and translocation of the NF-kappaB p65 subunit, but did not interfere with degradation of inhibitor of NF-kappaB (IkappaB).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 94, "end": 103}], "disease": [{"text": "translocation", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We assessed microsatellite instability, quantified DNA methylation in repetitive long interspersed nucleotide element-1 (LINE-1) by Pyrosequencing, eight CIMP-specific promoters [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and eight other CpG islands (CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14, and WRN) by real-time PCR (MethyLight).", "output": {"entities": {"gene": [{"text": "SOCS1", "start": 242, "end": 247}], "disease": [{"text": "microsatellite instability", "start": 12, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis, haplotype tagging single nucleotide polymorphisms and potential functional polymorphisms of CYP4A11 and CYP4F2 genes were genotyped in 558 ischemic stroke patients, 221 hemorrhagic stroke patients and 557 controls.", "output": {"entities": {"gene": [{"text": "CYP4A11", "start": 116, "end": 123}], "disease": [{"text": "hemorrhagic stroke", "start": 193, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "These results first suggest that hepatocarcinogenesis involves an increased expression of DNMT1, DNMT3a and DNMT3b mRNA and a progressive increase in the number of methylated genes from normal liver, chronic hepatitis/cirrhosis to HCC and secondly that an increase in the DNMT3a and DNMT3b mRNA levels in HCCs relative to their non-cancerous tissues may be a predictor of poor survival.", "output": {"entities": {"gene": [{"text": "HCC", "start": 231, "end": 234}], "disease": [{"text": "chronic hepatitis", "start": 200, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The TWEAK-Fn14 system has now been identified as a novel inducer of skeletal muscle wasting.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 4, "end": 9}], "disease": [{"text": "muscle wasting", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The stimulatory action of sFRP2 in pigmentation was further confirmed in melanocytes cocultured with fibroblasts and in ex vivo cultured skin.", "output": {"entities": {"gene": [{"text": "sFRP2", "start": 26, "end": 31}], "disease": [{"text": "pigmentation", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Our data also suggest a role for increased oxidative stress, which is at least in part dependent on enhanced COX-2 expression, in the mechanism (s) of enhanced aortic contractility in response to norepinephrine during DOCA-salt hypertension.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 109, "end": 114}], "disease": [{"text": "hypertension", "start": 228, "end": 240}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "COX-2", "start": 109, "end": 114}, "tail": {"text": "hypertension", "start": 228, "end": 240}}]}}, "schema": []}
{"input": "Gel retardation assays indicated that butyrate also stimulated heat-shock factor (HSF) binding activity between 3 and 6 h, suggesting that the activation of HSP70 gene expression was mediated by the heat-shock factor DNA response element (HSE).", "output": {"entities": {"gene": [{"text": "HSP70", "start": 157, "end": 162}], "disease": [{"text": "shock", "start": 68, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Promoter footprinting with nuclear extracts reveals an intense Ets hypersensitivity site at the EBS whose degree of intensity correlates with the level of cellular ErbB2 expression.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 164, "end": 169}], "disease": [{"text": "hypersensitivity", "start": 67, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "A prominent role of NF-κB in innate and adoptive immunity is based on the regulation of inducible transcription of various genes whose products are essential components of the immune response such as cytokines, chemokines, and adhesion molecules.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 20, "end": 25}], "disease": [{"text": "adhesion", "start": 227, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Lopinavir-induced cytosolic translocation of HuR and TNF-alpha and IL-6 synthesis was attenuated by specific chemical inhibitor of MEK (PD98058) or over-expression of dominant negative mutant of MEK1.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 53, "end": 62}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Moreover, accelerated telomere shortening may be induced by replicative stress or oxidative damage, leading to genomic instability, and inactivating polymorphisms of the gene encoding NADPH-quinone oxidoreductase (NQO1) are more frequently observed in patients with t-AML.", "output": {"entities": {"gene": [{"text": "quinone oxidoreductase", "start": 190, "end": 212}], "disease": [{"text": "genomic instability", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Cells expressing the TNF-alpha gene were located exclusively inside granulomas and were always scattered.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 25, "end": 35}], "disease": [{"text": "granulomas", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis showed increased levels of phospho-Smad1/5 concomitant with suppression of phospho-S6 and survivin levels in PC3 human prostate cancer xenografts in athymic mice administered rapamycin (intraperitoneally, 5 mg/kg/d, 2-6 days).", "output": {"entities": {"gene": [{"text": "Smad1", "start": 64, "end": 69}], "disease": [{"text": "prostate cancer", "start": 148, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Targeted deletion of BK channel in mice resulted in an osteoclast-autonomous osteopenia, becoming apparent in juvenile females.", "output": {"entities": {"gene": [{"text": "BK channel", "start": 21, "end": 31}], "disease": [{"text": "osteopenia", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BK channel", "start": 21, "end": 31}, "tail": {"text": "osteopenia", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 22, "end": 27}], "disease": [{"text": "paroxysmal kinesigenic dyskinesia with infantile convulsions", "start": 34, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRRT2", "start": 22, "end": 27}, "tail": {"text": "paroxysmal kinesigenic dyskinesia with infantile convulsions", "start": 34, "end": 94}}]}}, "schema": []}
{"input": "Mouse breast regression protein 39 (BRP-39; Chi3l1) and its human homologue YKL-40 are chitinase-like proteins that lack chitinase activity.", "output": {"entities": {"gene": [{"text": "Chi3l1", "start": 44, "end": 50}], "disease": [{"text": "regression", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that the presence of EndoG in non-invasive breast cancer cells determines their sensitivity to apoptosis, which may be taken into consideration for developing the chemotherapeutic strategy for cancer treatment.", "output": {"entities": {"gene": [{"text": "EndoG", "start": 42, "end": 47}], "disease": [{"text": "invasive breast cancer", "start": 55, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Based on these findings, a protocol for optimizing MTD test performance in this setting is proposed in which (i) specimens from patients taking antituberculosis medications are excluded from testing and (ii) all initially MTD-negative or MTD-equivocal specimens are subjected to testing for inhibitors.", "output": {"entities": {"gene": [{"text": "MTD", "start": 51, "end": 54}], "disease": [{"text": "all", "start": 208, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that CCM2, a gene product associated with cerebral cavernous malformations, interacts with the juxtamembrane region of TrkA via its phosphotyrosine binding (PTB) domain and mediates TrkA-induced death in diverse cell types.", "output": {"entities": {"gene": [{"text": "PTB", "start": 171, "end": 174}], "disease": [{"text": "cerebral cavernous malformations", "start": 56, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "It protects against neurodegeneration partly through a proteasome-mediated pathway in a manner similar to heat-shock protein 70 (Hsp70).", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 129, "end": 134}], "disease": [{"text": "shock", "start": 111, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Craniofrontonasal syndrome (CFNS, MIM #304110) is a rare X-linked dominant developmental disorder that shows paradoxically greater severity in affected females than in affected males.", "output": {"entities": {"gene": [{"text": "MIM", "start": 34, "end": 37}], "disease": [{"text": "developmental disorder", "start": 75, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 35, "end": 40}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The data indicate that robust transcriptional activation of p53 is linked to the known hypersensitivity of testicular germ cell tumors to chemotherapy.", "output": {"entities": {"gene": [{"text": "p53", "start": 60, "end": 63}], "disease": [{"text": "hypersensitivity", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest potential integrated roles for INT6, TID1, and Patched proteins in cell growth, development, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "TID1", "start": 60, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Recurrent somatic mutation of SRSF2, one of the RNA splicing machinery genes, has been identified in a substantial proportion of patients with myelodysplastic syndrome (MDS).", "output": {"entities": {"gene": [{"text": "SRSF2", "start": 30, "end": 35}], "disease": [{"text": "somatic mutation", "start": 10, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "This does not exclude very low levels of FANCF, FANCB or NBS1 methylation, but suggests other factors are responsible for chemo-sensitivity and chromosomal instability in sporadic childhood leukaemia.", "output": {"entities": {"gene": [{"text": "FANCF", "start": 41, "end": 46}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Psychopathological symptoms, doses, and duration of treatment with risperidone, sex, skin color, body mass index (BMI), use of other psychotropic drugs, and polymorphisms of DRD2, HTR2C, CYP2D6, LEP, LEPR, MC4R, and SCARB2 genes were evaluated.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 187, "end": 193}], "disease": [{"text": "body mass index", "start": 97, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Dysregulation of Rnd3 has been linked to tumorigenesis and metastasis.", "output": {"entities": {"gene": [{"text": "Rnd3", "start": 17, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "However, treatment with olmesartan, an Ang II type 1 receptor-specific antagonist, either at a depressor or subdepressor dose, recovered the suppressed cardiac ATRAP to Ang II type 1 receptor ratio, which was accompanied by a decrease in Ang II type 1 receptor density, an inhibition of p38 mitogen-activated protein kinase activity, and a regression of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "ATRAP", "start": 160, "end": 165}], "disease": [{"text": "cardiac hypertrophy", "start": 354, "end": 373}]}, "relations": {}}, "schema": []}
{"input": "AQP4 was positive in 92% of Graves' disease thyroids and 97% of multinodular goiters, and we failed to demonstrate AQP3 in these hyperplastic tissues.", "output": {"entities": {"gene": [{"text": "AQP3", "start": 115, "end": 119}], "disease": [{"text": "goiters", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Analysis of effects on estimated GFR, stratified by albuminuria status, showed that in those without albuminuria (normoalbuminura; n = 613), UMOD had a significantly stronger effect on estimated GFR (β (normo) = 4. 03 ± 1. 23 vs β (albuminuria) = 1. 72 ± 0. 76, P = 0. 002) compared with those with albuminuria, while GCKR (β (normo) = 0. 45 ± 0. 89 vs β (albuminuria) = 1. 12 ± 0. 55, P = 0. 08) and SHROOM3 (β (normo) =-0. 07 ± 0. 89 vs β (albuminuria) =-1. 43 ± 0. 53, P = 0. 003) had a stronger effect on estimated GFR in those with albuminuria.", "output": {"entities": {"gene": [{"text": "GFR", "start": 33, "end": 36}], "disease": [{"text": "albuminuria", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.", "output": {"entities": {"gene": [{"text": "POU4F3", "start": 37, "end": 43}], "disease": [{"text": "deafness", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Among the 23 unrelated non-syndromic hearing loss Brazilian patients with EVA, in whom no deafness-causing mutations of the GJB2 gene, the direct sequencing was performed to screen the 20 exons and their flanking regions of the SLC26A4 gene.", "output": {"entities": {"gene": [{"text": "EVA", "start": 74, "end": 77}], "disease": [{"text": "deafness", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "PRND expression was directly related to malignancy of the tumor: highest in glioblastoma multiforme, lower in anaplastic astrocytoma and even lower in the low-grade astrocytoma samples.", "output": {"entities": {"gene": [{"text": "PRND", "start": 0, "end": 4}], "disease": [{"text": "glioblastoma multiforme", "start": 76, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "While in vitro, following release from serum starvation of A549 NSCLC cell, the expression of EMP3 was deregulated.", "output": {"entities": {"gene": [{"text": "EMP3", "start": 94, "end": 98}], "disease": [{"text": "starvation", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Five of 6 molecular types recorded in Japan, i. e., NTS types I, II, IV, V, and VI, and two new types, designated NTS VII and NTS VIII, were observed among 10 strains isolated from sporadic cases.", "output": {"entities": {"gene": [{"text": "VIII", "start": 130, "end": 134}], "disease": [{"text": "sporadic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "In this work, we demonstrate that genetic ablation of the endogenous inhibitor of SirT1, Deleted-in-Breast-Cancer-1 (Dbc1), unexpectedly results in obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "Dbc1", "start": 117, "end": 121}], "disease": [{"text": "insulin resistance", "start": 160, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Inactivation of Crk SH3 domain-binding guanine nucleotide-releasing factor (C3G) in cervical squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "C3G", "start": 76, "end": 79}], "disease": [{"text": "cervical squamous cell carcinoma", "start": 84, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Endoscopic radiofrequency ablation (RFA) eradicates intestinal metaplasia and intraepithelial neoplasia associated with Barrett' s esophagus (BE), restoring an endoscopically normal neosquamous epithelium (NSE).", "output": {"entities": {"gene": [{"text": "NSE", "start": 206, "end": 209}], "disease": [{"text": "intraepithelial neoplasia", "start": 78, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "MCIDAS", "start": 0, "end": 6}], "disease": [{"text": "primary ciliary dyskinesia", "start": 153, "end": 179}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCIDAS", "start": 0, "end": 6}, "tail": {"text": "primary ciliary dyskinesia", "start": 153, "end": 179}}]}}, "schema": []}
{"input": "These findings indicate that the loss or reduced expression of the adhesion molecule BGP is a major event in colorectal carcinogenesis.", "output": {"entities": {"gene": [{"text": "BGP", "start": 85, "end": 88}], "disease": [{"text": "carcinogenesis", "start": 120, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We now for the first time report a double mutation of the RET proto-oncogene occurring in the germline of a kindred with FMTC.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 58, "end": 76}], "disease": [{"text": "FMTC", "start": 121, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 58, "end": 76}, "tail": {"text": "FMTC", "start": 121, "end": 125}}]}}, "schema": []}
{"input": "The atopic immune response contributes to the skin barrier defect in AD; therefore, neutralization of IL-4 and IL-13 could improve skin barrier integrity.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 111, "end": 116}], "disease": [{"text": "atopic", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "After categorization of the subjects, associations between serum IL-10 and TNF-α levels and the extent of periodontal inflammation were studied using linear regression models adjusted for age, gender, body mass index and smoking.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 75, "end": 80}], "disease": [{"text": "smoking", "start": 221, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil-derived myeloperoxidase aggravates non-alcoholic steatohepatitis in low-density lipoprotein receptor-deficient mice.", "output": {"entities": {"gene": [{"text": "low-density lipoprotein receptor", "start": 79, "end": 111}], "disease": [{"text": "non-alcoholic steatohepatitis", "start": 46, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "low-density lipoprotein receptor", "start": 79, "end": 111}, "tail": {"text": "non-alcoholic steatohepatitis", "start": 46, "end": 75}}]}}, "schema": []}
{"input": "Quantitative kinetic reverse transcription-polymerase chain reaction was developed to determine the in vivo expression levels of CCR5, CXCR4, CCR3, CCR2b, and the cytomegalovirus-encoded US28 in peripheral blood mononuclear cells and cervical biopsies from 12 women with and without sexually transmitted diseases, genital ulcer disease, and progesterone-predominant conditions.", "output": {"entities": {"gene": [{"text": "CCR2b", "start": 148, "end": 153}], "disease": [{"text": "sexually transmitted diseases", "start": 283, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "We conclude that Cousin syndrome is caused by TBX15 insufficiency and is thus the human counterpart of the droopy ear mouse.", "output": {"entities": {"gene": [{"text": "TBX15", "start": 46, "end": 51}], "disease": [{"text": "Cousin syndrome", "start": 17, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX15", "start": 46, "end": 51}, "tail": {"text": "Cousin syndrome", "start": 17, "end": 32}}]}}, "schema": []}
{"input": "In the present study, the differential mRNA expression of SVEP1, LPHN3, KLB, ITGA7, SEMA3G, TNS1 and MMP13 genes was examined in breast cancer using quantitative real-time reverse transcription polymerase chain reaction (QRT-PCR).", "output": {"entities": {"gene": [{"text": "SEMA3G", "start": 84, "end": 90}], "disease": [{"text": "breast cancer", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of PDCD4 via adenovirus (Ad-PDCD4) increases VSMC apoptosis in an apoptotic model induced by serum deprivation.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 18, "end": 23}], "disease": [{"text": "adenovirus", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Immunological tests showed pan-hypogammaglobulinemia and a decrease of peripheral blood B cells (4%) and CD4 + cells (25%).", "output": {"entities": {"gene": [{"text": "CD4", "start": 105, "end": 108}], "disease": [{"text": "hypogammaglobulinemia", "start": 31, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Steroid 17 alpha-hydroxylase deficiency is caused by defects in cytochrome P450c17, the single enzyme that has 17-alpha hydroxylase and 17, 20-lyase activities.", "output": {"entities": {"gene": [{"text": "cytochrome P450c17", "start": 64, "end": 82}], "disease": [{"text": "17 alpha-hydroxylase deficiency", "start": 8, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cytochrome P450c17", "start": 64, "end": 82}, "tail": {"text": "17 alpha-hydroxylase deficiency", "start": 8, "end": 39}}]}}, "schema": []}
{"input": "Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 72, "end": 78}], "disease": [{"text": "EDS-IV", "start": 108, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 72, "end": 78}, "tail": {"text": "EDS-IV", "start": 108, "end": 114}}]}}, "schema": []}
{"input": "The 22q13. 3 deletion syndrome (or Phelan-McDermid syndrome, MIM 606232) is characterized by developmental delay, absent or severely delayed speech, neonatal hypotonia, autistic behavior, normal to accelerated growth, and minor dysmorphic facial features.", "output": {"entities": {"gene": [{"text": "MIM", "start": 61, "end": 64}], "disease": [{"text": "neonatal hypotonia", "start": 149, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Nine hundred and sixty-nine MESA participants were genotyped and underwent CT examinations for coronary artery calcification (CAC) and carotid ultrasound examinations for intima media thickness.", "output": {"entities": {"gene": [{"text": "CAC", "start": 126, "end": 129}], "disease": [{"text": "coronary artery calcification", "start": 95, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Here, we identify the SRY-related high-morbidity-group (HMG) box 5 (SOX5) gene on chromosome 12p12 as a novel IGH-involved translocation partner in the case of BCL2-negative follicular lymphoma (FL) with a complex karyotype including t (12; 14) (p12. 2; q32) by long-distance inverse PCR.", "output": {"entities": {"gene": [{"text": "SRY", "start": 22, "end": 25}], "disease": [{"text": "translocation", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Remarkably, the drugs targeted a putative leukemia-initiating cell sub-population (CD34 (+)/CD7 (-)/CD4 (-)) in patient samples.", "output": {"entities": {"gene": [{"text": "CD4", "start": 100, "end": 103}], "disease": [{"text": "leukemia", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Each of the BRCA1-associated cancers with Chk2 mutations also contained mutations in p53, whereas the single sporadic cancer with Chk2 mutation was wild-type for p53.", "output": {"entities": {"gene": [{"text": "Chk2", "start": 42, "end": 46}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We found little evidence for a gene-gene-exposure, three-way interaction among the XPD codon 751 genotype, smoking, and the NAT1/NAT2 genotype.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 129, "end": 133}], "disease": [{"text": "smoking", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations.", "output": {"entities": {"gene": [{"text": "NKX2-1", "start": 87, "end": 93}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Here we show that CD44 (high) CD24 (low) cells isolated from the oral cancer cell lines, not only express stem cell related genes but also exhibit Epithelial-to-Mesenchymal transition (EMT) characteristics.", "output": {"entities": {"gene": [{"text": "CD24", "start": 30, "end": 34}], "disease": [{"text": "oral cancer", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We describe a heterozygous dominant mutation (c. 1352G--> A/p. G451E) in POLG2, the gene encoding the p55 accessory subunit of pol gamma, that causes progressive external ophthalmoplegia with multiple mtDNA deletions and cytochrome c oxidase (COX)-deficient muscle fibers.", "output": {"entities": {"gene": [{"text": "COX", "start": 243, "end": 246}], "disease": [{"text": "progressive external ophthalmoplegia", "start": 150, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "To determine the mechanism causing this progression and the paradoxical fasting hypoglycemia, we conducted a retrospective study in a patient with Rabson-Mendenhall syndrome, who was a compound heterozygous for two missense mutations affecting the kinase domain of the insulin receptor beta-subunit (I1115T and R1131W).", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 269, "end": 285}], "disease": [{"text": "Rabson-Mendenhall syndrome", "start": 147, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 269, "end": 285}, "tail": {"text": "Rabson-Mendenhall syndrome", "start": 147, "end": 173}}]}}, "schema": []}
{"input": "We report a new locus, designated JC-1, which maps between the gene responsible for adrenal hypoplasia (AHC) and the gene that encodes glycerol kinase (GK) in Xp21. 2-21. 3.", "output": {"entities": {"gene": [{"text": "2-21", "start": 165, "end": 169}], "disease": [{"text": "adrenal hypoplasia", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We assessed phospho-ERK expression in 37 patients with hairy cell leukemia and 44 patients with neoplasms mimicking hairy cell leukemia (40 splenic marginal zone lymphoma, 2 hairy cell leukemia-variant and 2 splenic lymphoma/leukemia unclassifiable) using immunohistochemistry on routine biopsies and/or Western blotting on purified leukemic cells, and correlated the phospho-ERK status with the BRAF-V600E mutation status.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 396, "end": 400}], "disease": [{"text": "splenic lymphoma", "start": 208, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "In human prostate tissue samples, loss of NKX3. 1 expression and corresponding clusterin overexpression are co-localized at sites of prostatic inflammatory atrophy, a possible very early stage of human prostate tumorigenesis.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 42, "end": 49}], "disease": [{"text": "atrophy", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The results showed that hyperglycemic ischemia upregulated the expressions of hsp70, hsp90A, hsp90B, heat shock cognate 71 kD protein (hsc70) and mthsp70.", "output": {"entities": {"gene": [{"text": "hsp90B", "start": 93, "end": 99}], "disease": [{"text": "ischemia", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Telmisartan prevents weight gain and obesity through activation of peroxisome proliferator-activated receptor-delta-dependent pathways.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor-delta", "start": 67, "end": 115}], "disease": [{"text": "obesity", "start": 37, "end": 44}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor-delta", "start": 67, "end": 115}, "tail": {"text": "obesity", "start": 37, "end": 44}}]}}, "schema": []}
{"input": "In the other case, a variety of molecular studies did not reveal a translocation involving the EWS gene but this tumour, on the balance of probability, is still considered to represent a neoplasm in the EFTs.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 95, "end": 103}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Since biochemical diagnosis is problematic, the identification of hydroxymethylbilane synthase mutations has facilitated the detection of AIP heterozygotes.", "output": {"entities": {"gene": [{"text": "hydroxymethylbilane synthase", "start": 66, "end": 94}], "disease": [{"text": "AIP", "start": 138, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hydroxymethylbilane synthase", "start": 66, "end": 94}, "tail": {"text": "AIP", "start": 138, "end": 141}}]}}, "schema": []}
{"input": "We generated transgenic mice lacking endogenous class II molecules, HLA-DR3. Abo and HLA-DQ8. Abo transgenic mice in NOD and HLA-DQ8. Abo in B10 background, to study the role of MHC in spontaneous autoimmunity.", "output": {"entities": {"gene": [{"text": "B10", "start": 141, "end": 144}], "disease": [{"text": "autoimmunity", "start": 197, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer.", "output": {"entities": {"gene": [{"text": "SEPT9", "start": 37, "end": 42}], "disease": [{"text": "asymptomatic", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.", "output": {"entities": {"gene": [{"text": "glutaryl-CoA dehydrogenase", "start": 39, "end": 65}], "disease": [{"text": "glutaric aciduria type I", "start": 119, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glutaryl-CoA dehydrogenase", "start": 39, "end": 65}, "tail": {"text": "glutaric aciduria type I", "start": 119, "end": 143}}]}}, "schema": []}
{"input": "Two patients with HER2 3 + breast cancer within the 500 ng/kg dose level experienced grade 1 asymptomatic decreases in left ventricular ejection fraction of 12% and 19% after 3 and 10 months of therapy, respectively.", "output": {"entities": {"gene": [{"text": "HER2", "start": 18, "end": 22}], "disease": [{"text": "asymptomatic", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.", "output": {"entities": {"gene": [{"text": "coproporphyrinogen oxidase", "start": 49, "end": 75}], "disease": [{"text": "hereditary coproporphyria", "start": 102, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coproporphyrinogen oxidase", "start": 49, "end": 75}, "tail": {"text": "hereditary coproporphyria", "start": 102, "end": 127}}]}}, "schema": []}
{"input": "Elevated serum CRP levels are associated with endothelial dysfunction, coronary artery calcification and cardiac diastolic dysfunction in chronic cocaine users.", "output": {"entities": {"gene": [{"text": "CRP", "start": 15, "end": 18}], "disease": [{"text": "coronary artery calcification", "start": 71, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Serum fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated haemoglobin (HbA1c), fasting serum insulin (FINS), postprandial serum insulin (PINS), triglycerol (TG), cholesterol (CHO), low-density lipoprotein cholesterol (LDL-c), high-density lipoprotein cholesterol (HDL-c), homeostasis model assessment for insulin resistance (HOMA-IR), and body mass index (BMI) were determined before and after metformin treatment.", "output": {"entities": {"gene": [{"text": "PPG", "start": 65, "end": 68}], "disease": [{"text": "body mass index", "start": 361, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "Herein we demonstrate that thio-ccPA 18: 1, a stabilized phosphonothionate analogue of carba cyclic phosphatidic acid, ATX inhibitor and LPA1/3 receptor antagonist, induced a marked reduction in the viability of B16F10 metastatic melanoma cells compared with PBS-treated control by 80-100%.", "output": {"entities": {"gene": [{"text": "LPA1", "start": 137, "end": 141}], "disease": [{"text": "metastatic melanoma", "start": 219, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "We tested 76 FAD families, 127 \" sporadic \" AD subjects, 16 Down syndrome cases, and 256 normal controls for this mutation, and none were positive.", "output": {"entities": {"gene": [{"text": "FAD", "start": 13, "end": 16}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We confirmed that beta2-/-mice exhibit impaired exploratory and social behaviour, and further demonstrated their nocturnal hyperactivity.", "output": {"entities": {"gene": [{"text": "beta2", "start": 18, "end": 23}], "disease": [{"text": "hyperactivity", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, METRNL administration rescued glucose intolerance and reduced HFD-induced body weight gain in mice; however, METRNL did not affect calorie intake.", "output": {"entities": {"gene": [{"text": "METRNL", "start": 13, "end": 19}], "disease": [{"text": "body weight gain", "start": 87, "end": 103}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "METRNL", "start": 13, "end": 19}, "tail": {"text": "body weight gain", "start": 87, "end": 103}}]}}, "schema": []}
{"input": "Further studies also elucidated the oncogene nature of the G protein-coupled receptor LPAR4 and its c. 872T & gt; G (p. Ile291Ser) mutation in PTC malignant transformation.", "output": {"entities": {"gene": [{"text": "LPAR4", "start": 86, "end": 91}], "disease": [{"text": "PTC", "start": 143, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LPAR4", "start": 86, "end": 91}, "tail": {"text": "PTC", "start": 143, "end": 146}}]}}, "schema": []}
{"input": "Finally, our in vivo studies confirmed that SAA treatment results in a significant increase in plasma G-CSF and neutrophilia, whereas these responses are ablated in G-CSF-or TLR2-deficient mice.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 174, "end": 178}], "disease": [{"text": "neutrophilia", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These findings clearly demonstrate a state of progressive genomic instability that increases the likelihood of a \" second hit \" or complimentary mutation later in the disease to trigger development of acute leukemia and underscores the mechanistic nature of how the NUP98-HoxD13 transgene induces progression of MDS to acute leukemia.", "output": {"entities": {"gene": [{"text": "HoxD13", "start": 272, "end": 278}], "disease": [{"text": "hit", "start": 122, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.", "output": {"entities": {"gene": [{"text": "C11orf70", "start": 13, "end": 21}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 28, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C11orf70", "start": 13, "end": 21}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 28, "end": 54}}]}}, "schema": []}
{"input": "The different translocation partners of the EWS gene, all of which are putative or definite transcription factor genes, may be responsible for the biological differences between DSRCT, Ewing' s sarcoma, and clear cell sarcoma.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 44, "end": 52}], "disease": [{"text": "translocation", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "XEDAR", "start": 78, "end": 83}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 111, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XEDAR", "start": 78, "end": 83}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 111, "end": 144}}]}}, "schema": []}
{"input": "Initial discovery (in the 997 subjects) and replication (in 1728 white subjects) association analyses identified three poly-miRTSs (rs6854081, rs1048201, and rs7683093) in the fibroblast growth factor 2 (FGF2) gene that were significantly associated with femoral neck bone mineral density (BMD).", "output": {"entities": {"gene": [{"text": "FGF2", "start": 204, "end": 208}], "disease": [{"text": "bone mineral density", "start": 268, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.", "output": {"entities": {"gene": [{"text": "KRAS", "start": 21, "end": 25}], "disease": [{"text": "nevus sebaceous", "start": 42, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRAS", "start": 21, "end": 25}, "tail": {"text": "nevus sebaceous", "start": 42, "end": 57}}]}}, "schema": []}
{"input": "PAI-1 (-/-) mice were protected from these ECM changes, indicating a causal role of PAI-1 in this fibrosis model.", "output": {"entities": {"gene": [{"text": "ECM", "start": 43, "end": 46}], "disease": [{"text": "fibrosis", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The significant dissimilarities regarding DNA ploidy, p21 and p53 in these quite homogeneous groups of FBC and MBC point to different genomic instability and to differences in cell cycle proliferative control, reinforcing the view of somewhat distinct tumour oncogenesis.", "output": {"entities": {"gene": [{"text": "p21", "start": 54, "end": 57}], "disease": [{"text": "genomic instability", "start": 134, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Platelet-activating factor receptor agonists mediate xeroderma pigmentosum A photosensitivity.", "output": {"entities": {"gene": [{"text": "Platelet-activating factor receptor", "start": 0, "end": 35}], "disease": [{"text": "photosensitivity", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Forty-seven ARPKD and 14 pedigrees with congenital hepatic fibrosis and/or Caroli' s disease, were screened for PKHD1 mutations.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 112, "end": 117}], "disease": [{"text": "ARPKD", "start": 12, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 112, "end": 117}, "tail": {"text": "ARPKD", "start": 12, "end": 17}}]}}, "schema": []}
{"input": "Conversely, overexpression of Pdcd4 significantly reversed the hypoxia induction of LOX expression in T47D cells attenuated for Pdcd4.", "output": {"entities": {"gene": [{"text": "LOX", "start": 84, "end": 87}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Notably, IL-2-mediated pulmonary edema was abrogated by a blocking antibody to IL-2Ralpha (CD25), genetic disruption of CD25, or the use of IL-2Rbetagamma-directed IL-2/anti-IL-2 antibody complexes, thereby interfering with IL-2 binding to IL-2Ralphabetagamma (+) pulmonary endothelial cells.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 9, "end": 13}], "disease": [{"text": "pulmonary edema", "start": 23, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "However, the epigenetic basis and role of specific histone deacetylase (HDAC) isoforms in the genetic predisposition to anxiety and alcoholism is unknown.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 72, "end": 76}], "disease": [{"text": "anxiety", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Also, haplotype GGC conferred increased susceptibility for obesity (OR = 1. 27, P/Pperm = 9. 0 x 10-3/0. 039).", "output": {"entities": {"gene": [{"text": "GGC", "start": 16, "end": 19}], "disease": [{"text": "obesity", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "SNPs in NPY2R provided significant evidence of association with alcohol dependence, alcohol withdrawal symptoms, comorbid alcohol and cocaine dependence, and cocaine dependence (all p & lt; 0. 03).", "output": {"entities": {"gene": [{"text": "NPY2R", "start": 8, "end": 13}], "disease": [{"text": "withdrawal symptoms", "start": 92, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY2R", "start": 8, "end": 13}, "tail": {"text": "withdrawal symptoms", "start": 92, "end": 111}}]}}, "schema": []}
{"input": "Genetic variants in TGFB2, TGFBR2, and SMAD3 and their haplotypes were consistently and reproducibly associated with KD susceptibility, coronary artery aneurysm formation, aortic root dilatation, and intravenous immunoglobulin treatment response in different cohorts.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 27, "end": 33}], "disease": [{"text": "coronary artery aneurysm", "start": 136, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that in a subset of individuals with schizophrenia, Lhx6 deficits may contribute to a failure of some cortical parvalbumin and somatostatin neurons to successfully migrate or develop a detectable GABA-ergic phenotype.", "output": {"entities": {"gene": [{"text": "Lhx6", "start": 71, "end": 75}], "disease": [{"text": "schizophrenia", "start": 56, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lhx6", "start": 71, "end": 75}, "tail": {"text": "schizophrenia", "start": 56, "end": 69}}]}}, "schema": []}
{"input": "Mutation analyses were performed by direct sequencing of SERPINC1 in 150 patients (aged < 40 years) with thromboembolism and normal antithrombin levels.]", "output": {"entities": {"gene": [{"text": "SERPINC1", "start": 57, "end": 65}], "disease": [{"text": "thromboembolism", "start": 105, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The present study aimed to evaluate Skp2 abnormalities and their prognostic value in non-small cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "Skp2", "start": 36, "end": 40}], "disease": [{"text": "abnormalities", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Menkes disease is an X-linked recessive disorder of brain copper metabolism caused by mutations in an essential mammalian copper transport gene, ATP7A.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 145, "end": 150}], "disease": [{"text": "disorder of brain", "start": 40, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Quantitative real-time RT-PCR of ITGA7, SVEP1, TNS1, LPHN3, SEMA3G, KLB and MMP13 mRNA expression in breast cancer.", "output": {"entities": {"gene": [{"text": "SEMA3G", "start": 60, "end": 66}], "disease": [{"text": "breast cancer", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Translated products of AOGs showed differential expression in the liver of hyperthyroid rats, where Cu/Zn SOD (SOD1), CAT and GR were decreased in contrast to Mn SOD (SOD2) and GPx1.", "output": {"entities": {"gene": [{"text": "GPx1", "start": 177, "end": 181}], "disease": [{"text": "hyperthyroid", "start": 75, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPx1", "start": 177, "end": 181}, "tail": {"text": "hyperthyroid", "start": 75, "end": 87}}]}}, "schema": []}
{"input": "Effect of atorvastatin on circulating proinflammatory T-lymphocyte subsets and soluble CD40 ligand in patients with stable coronary artery disease--a randomized, placebo-controlled study.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 87, "end": 98}], "disease": [{"text": "coronary artery disease", "start": 123, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD40 ligand", "start": 87, "end": 98}, "tail": {"text": "coronary artery disease", "start": 123, "end": 146}}]}}, "schema": []}
{"input": "Severity of cortical LB (CLB)/LN pathology was positively associated with dementia (p < 0. 001), with an odds ratio (OR) of 4. 06 (95% confidence interval [CI], 1. 87-8. 81), as was apolipoprotein E4 (APOE4) genotype (p = 0. 018; OR, 4. 19; 95% CI, 1. 28-13. 75).", "output": {"entities": {"gene": [{"text": "CLB", "start": 25, "end": 28}], "disease": [{"text": "dementia", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The structurally related beta-diketones hydroxydibenzoylmethane (HDB) and hydroxymethyldibenzoylmethane (HMDB) were able to induce apoptosis in colorectal carcinoma COLO 205 cells.", "output": {"entities": {"gene": [{"text": "HDB", "start": 65, "end": 68}], "disease": [{"text": "colorectal carcinoma", "start": 144, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "These data provide novel insight into how RelB is required to initiate silencing in the phenotype associated with severe systemic inflammation in humans, a disease with major morbidity and mortality.", "output": {"entities": {"gene": [{"text": "RelB", "start": 42, "end": 46}], "disease": [{"text": "inflammation", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Mdr2 (-/-) mice lacking IKK2 in hepatocytes developed spontaneously a severe liver disease characterized by cholestasis, major hyperbilirubinemia and severe to end-stage fibrosis, which caused muscle wasting, loss of body weight, lethargy and early spontaneous death.", "output": {"entities": {"gene": [{"text": "Mdr2", "start": 0, "end": 4}], "disease": [{"text": "body weight", "start": 217, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Taken together, [Ca2 +] o is a candidate mediator of prostate cancer bone metastasis.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 17, "end": 20}], "disease": [{"text": "prostate cancer", "start": 53, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "MSH2 immunoreactivity was decreased in SKA tumoral cells when compared to normal adjacent epidermis and to 5 cases of sporadic KA used as controls.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined immunodeficiency (CID), leading to increased susceptibility to infections.", "output": {"entities": {"gene": [{"text": "MIA", "start": 29, "end": 32}], "disease": [{"text": "bowel obstruction", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The best overall sensitivity in detecting bone metastases demonstrated positron emission tomography (PET) with 6-[(18) F]-fluorodopamine ([(18) F]-FDA; 90%), followed by bone scintigraphy (82%), computed tomography or magnetic resonance imaging (CT/MRI; 78%), 2-[(18) F]-fluoro-2-deoxy-d-glucose ([(18) F]-FDG) PET (76%), and scintigraphy with [(123/131) I]-metaiodobenzylguanidine (71%).", "output": {"entities": {"gene": [{"text": "MRI", "start": 249, "end": 252}], "disease": [{"text": "bone metastases", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous LPIN1 mutations may cause mild muscular symptoms.", "output": {"entities": {"gene": [{"text": "LPIN1", "start": 13, "end": 18}], "disease": [{"text": "mild", "start": 39, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we investigated the effects of single nucleotide polymorphisms in PPARGC1A on body composition and glucose tolerance and on insulin sensitivity and secretion.", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 77, "end": 85}], "disease": [{"text": "insulin sensitivity", "start": 135, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This association was also evident in subgroups of older patients (aged > 57 years), men, former smokers, patients with oral cancer, and patients with N) lymph node status (P <. 05 for all); however, such associations were not observed for the ADH1B R48H SNP.", "output": {"entities": {"gene": [{"text": "ADH1B", "start": 243, "end": 248}], "disease": [{"text": "oral cancer", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated that peripheral blood mononuclear cells from patients with Sézary syndrome, the leukemic form of cutaneous T-cell lymphoma which is accompanied by erythroderma and lymphadenopathy, have a Th2 cell cytokine [interleukin 4 (IL-4) and interleukin 5] production pattern.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 254, "end": 258}], "disease": [{"text": "erythroderma", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the contribution of FBXO4-dependent regulation cyclin D1 in esophageal squamous cell homeostasis, we exposed FBXO4 knockout mice to N-nitrosomethylbenzylamine (NMBA), an esophageal carcinogen.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 59, "end": 68}], "disease": [{"text": "esophageal", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Polymorphic variants of both IL-13 and IL-4R alpha have been shown to be associated with atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 29, "end": 34}], "disease": [{"text": "atopy", "start": 89, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "To determine if genetic differences in NAT1 and NAT2 could alter risk of gastric cancer, we tested for the presence of polymorphic N-acetyltransferase alleles (both NAT1 and NAT2) in a preliminary study of 94 gastric adenocarcinoma patients and 112 control subjects from North Staffordshire, England.", "output": {"entities": {"gene": [{"text": "NAT1", "start": 39, "end": 43}], "disease": [{"text": "gastric cancer", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In a mouse model of autoimmune myositis, cellular inflammation alone was associated with similar Foxo3A and Atrogin changes.", "output": {"entities": {"gene": [{"text": "Foxo3A", "start": 97, "end": 103}], "disease": [{"text": "inflammation", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Twenty-five novel mutations of the factor IX gene in haemophilia B.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 35, "end": 44}], "disease": [{"text": "haemophilia B", "start": 53, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 35, "end": 44}, "tail": {"text": "haemophilia B", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "Although the primary analysis did not indicate significant genetic effects, secondary analyses revealed associations between symptom response and variants at the dopamine receptor (DRD4) promoter (p =. 05) and synaptosomal-associated protein 25 (SNAP25) allelesT1065G (p =. 03) andT1069C (p =. 05).", "output": {"entities": {"gene": [{"text": "DRD4", "start": 181, "end": 185}], "disease": [{"text": "secondary", "start": 76, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "This study characterized single-nucleotide polymorphisms (SNPs) in the GRK2 gene (ADRBK1) and determined if these and a GRK5 Gln41Leu polymorphism affect the blood pressure (BP) response to atenolol or hydrochlorothiazide or adverse cardiovascular outcomes in hypertensives.", "output": {"entities": {"gene": [{"text": "GRK5", "start": 120, "end": 124}], "disease": [{"text": "blood pressure", "start": 158, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In contrast, neither the middle-(NF-M) or high-(NF-H) M (r) NF proteins or their mRNAs were detected in any of these glioma cell lines.", "output": {"entities": {"gene": [{"text": "NF-M", "start": 33, "end": 37}], "disease": [{"text": "glioma", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The immunostaining in benign tumors was almost uniformly negative as we found p53-positivity only in one poroma, one nodular hidradenoma, and one case of syringocystadenoma papilliferum (amongst 13 spiradenomas, 9 cylindromas, 12 nodular hidradenomas, 7 poromas, 6 syringomas, 7 syringocystadenomas papilliferum, 2 papillary tubular adenomas and 4 chondroid syringomas).", "output": {"entities": {"gene": [{"text": "p53", "start": 78, "end": 81}], "disease": [{"text": "syringocystadenoma papilliferum", "start": 154, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "To identify quantitative trait loci (QTL) for three obesity phenotypes: body mass index (BMI), fat mass (FM) and percent body fat (PBF) in West Africans with type 2 diabetes (T2DM).", "output": {"entities": {"gene": [{"text": "PBF", "start": 131, "end": 134}], "disease": [{"text": "body mass index", "start": 72, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Corticotropin-releasing factor-binding protein regulates the availability of free corticotropin-releasing factor and is a functional candidate gene for affective disorders.", "output": {"entities": {"gene": [{"text": "Corticotropin-releasing factor-binding protein", "start": 0, "end": 46}], "disease": [{"text": "affective disorders", "start": 152, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Corticotropin-releasing factor-binding protein", "start": 0, "end": 46}, "tail": {"text": "affective disorders", "start": 152, "end": 171}}]}}, "schema": []}
{"input": "Mutations in NOTCH1 cause Adams-Oliver syndrome.", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 13, "end": 19}], "disease": [{"text": "Adams-Oliver syndrome", "start": 26, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NOTCH1", "start": 13, "end": 19}, "tail": {"text": "Adams-Oliver syndrome", "start": 26, "end": 47}}]}}, "schema": []}
{"input": "Our previous studies have demonstrated a close relationship between carcinogenesis in differentiated-type gastric cancer and the expression of brain (fetal)-type glycogen phosphorylase (BGP).", "output": {"entities": {"gene": [{"text": "BGP", "start": 186, "end": 189}], "disease": [{"text": "carcinogenesis", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We asked whether polymorphisms in KIR, HLA-C, and HLA-B genes are risk factors for endometriosis.", "output": {"entities": {"gene": [{"text": "KIR", "start": 34, "end": 37}], "disease": [{"text": "endometriosis", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "AAV-mediated expression of human PRELP inhibits complement activation, choroidal neovascularization and deposition of membrane attack complex in mice.", "output": {"entities": {"gene": [{"text": "PRELP", "start": 33, "end": 38}], "disease": [{"text": "choroidal neovascularization", "start": 71, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas.", "output": {"entities": {"gene": [{"text": "TP53 genes", "start": 47, "end": 57}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Our study revealed a critical role of SHP and REV-ERB & #945; in controlling rhythmic CHOP expression in alcoholic fatty liver.", "output": {"entities": {"gene": [{"text": "SHP", "start": 38, "end": 41}], "disease": [{"text": "fatty liver", "start": 115, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SHP", "start": 38, "end": 41}, "tail": {"text": "fatty liver", "start": 115, "end": 126}}]}}, "schema": []}
{"input": "QM FISH applied to a subset of samples (n = 26) identified a derivative chromosome der (1; 16) (q10; p10), a result of a centromere-close translocation between chromosome arms 1q and 16p.", "output": {"entities": {"gene": [{"text": "p10", "start": 101, "end": 104}], "disease": [{"text": "arms", "start": 171, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In particular, several CETP SNPs were associated with an elevation in HDL-cholesterol levels, yet a lower diastolic blood pressure, providing evidence that the blood pressure elevation induced by the CETP inhibitor torcetrapib is more likely compound specific than class specific.", "output": {"entities": {"gene": [{"text": "CETP", "start": 23, "end": 27}], "disease": [{"text": "diastolic blood pressure", "start": 106, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Association analysis of the 5-HT5A gene in depression, psychosis and antipsychotic response.", "output": {"entities": {"gene": [{"text": "5-HT5A", "start": 28, "end": 34}], "disease": [{"text": "psychosis", "start": 55, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT5A", "start": 28, "end": 34}, "tail": {"text": "psychosis", "start": 55, "end": 64}}]}}, "schema": []}
{"input": "There were significant interactions between increased CRP and cigarette smoking, and insulin resistance on hypertension, corresponding relative excess risk due to interactions were 0. 799 and 0. 651, respectively.", "output": {"entities": {"gene": [{"text": "CRP", "start": 54, "end": 57}], "disease": [{"text": "insulin resistance", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Ewing sarcoma (ES) is the second most frequent bone cancer in childhood and is characterized by the presence of the balanced translocation t (11; 22) (q24; q12) in more than 85% of cases, generating a dysregulated transcription factor EWS/FLI1.", "output": {"entities": {"gene": [{"text": "EWS", "start": 235, "end": 238}], "disease": [{"text": "translocation", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "All 43 benign nevi, 18 dysplastic nevi, 68 non-neoplastic and benign skins, and all 56 non-neoplastic breast tissue were SOX10-positive.", "output": {"entities": {"gene": [{"text": "SOX10", "start": 121, "end": 126}], "disease": [{"text": "nevi", "start": 14, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "We report here that the compound heterozygosity or homozygosity of GPNMB truncating alleles is the cause of autosomal-recessive ACD.", "output": {"entities": {"gene": [{"text": "GPNMB", "start": 67, "end": 72}], "disease": [{"text": "ACD", "start": 128, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPNMB", "start": 67, "end": 72}, "tail": {"text": "ACD", "start": 128, "end": 131}}]}}, "schema": []}
{"input": "The complicated form is heterogeneous, caused by mutations of the L1CAM gene at Xq28 (SPG1) or the PLP gene at Xq22 (SPG2) that is allelic to Pelizaeus-Merzbacher disease (PMD).", "output": {"entities": {"gene": [{"text": "PLP", "start": 99, "end": 102}], "disease": [{"text": "SPG2", "start": 117, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLP", "start": 99, "end": 102}, "tail": {"text": "SPG2", "start": 117, "end": 121}}]}}, "schema": []}
{"input": "Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 22, "end": 28}], "disease": [{"text": "hypoplastic left heart syndrome", "start": 112, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NKX2-5", "start": 22, "end": 28}, "tail": {"text": "hypoplastic left heart syndrome", "start": 112, "end": 143}}]}}, "schema": []}
{"input": "Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling.", "output": {"entities": {"gene": [{"text": "MEOX2", "start": 67, "end": 72}], "disease": [{"text": "amyloid", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 441, "end": 447}], "disease": [{"text": "age at menopause", "start": 223, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "After the transfection of CDH13 siRNA into 5637 cells, CDH13 expression was significantly decreased, and the migration, invasion, adhesion of 5637 cells, as well as MMP2 expression in 5637 cells was significantly promoted compared with blank and negative controls.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 165, "end": 169}], "disease": [{"text": "adhesion", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In a multicenter study involving 106 subjects, 56 with deficit schizophrenia and 50 with nondeficit schizophrenia, we tested the hypothesis that the catechol-O-methyltransferase (COMT) Val (158) Met polymorphism is associated with cognitive and motor deficits either in schizophrenia as a whole or in its deficit subtype.", "output": {"entities": {"gene": [{"text": "COMT", "start": 179, "end": 183}], "disease": [{"text": "motor deficits", "start": 245, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Novel ATP6V1B1 mutations were found in a patient with distal renal tubular acidosis (dRTA), hearing loss (HL), and enlargement of the vestibular aqueduct (EVA).", "output": {"entities": {"gene": [{"text": "EVA", "start": 155, "end": 158}], "disease": [{"text": "enlargement", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.", "output": {"entities": {"gene": [{"text": "PTCH", "start": 12, "end": 16}], "disease": [{"text": "nevoid basal cell-carcinoma syndrome", "start": 38, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTCH", "start": 12, "end": 16}, "tail": {"text": "nevoid basal cell-carcinoma syndrome", "start": 38, "end": 74}}]}}, "schema": []}
{"input": "In the porcine Ameroid constrictor model of myocardial ischemia the presence of anti-Ad5 antibodies or prior intracoronary dosing with adenovirus does not prevent the ability of Ad5. FGF4, delivered by intracoronary injection, from normalizing regional myocardial function.", "output": {"entities": {"gene": [{"text": "FGF4", "start": 183, "end": 187}], "disease": [{"text": "adenovirus", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "CHMP5-scFv retrovirus can neutralize the abnormally high levels of the CHMP5 protein in the cytosol of AML leukemic U937 cells, thereby inducing the programmed cell death of the leukemic cells via AIF-mediated caspase-independent necrosis and apoptosis.", "output": {"entities": {"gene": [{"text": "CHMP5", "start": 0, "end": 5}], "disease": [{"text": "necrosis", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Levels of serum AFP, AFP-L3, GP73, and sublingual vein scores were measured in 34 patients with chronic hepatitis, 65 patients with post-hepatitis B cirrhosis, 71 patients with HCC, and 6 healthy controls.", "output": {"entities": {"gene": [{"text": "HCC", "start": 177, "end": 180}], "disease": [{"text": "chronic hepatitis", "start": 96, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The aim of the research was to assess possible histopathological differences between BRCA1-and BRCA2-associated malignant intraperitoneal (ovarian/fallopian tube/peritoneal) tumors and their sporadic counterparts.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 95, "end": 100}], "disease": [{"text": "sporadic", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, purified GPI-anchored cytokines can be used to quickly modify tumor membranes by the protein transfer method to express the desired cytokines for vaccine development.", "output": {"entities": {"gene": [{"text": "GPI", "start": 22, "end": 25}], "disease": [{"text": "tumor", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The presence of V38A/E was significantly associated with a 4. 5-fold CD4 increase from baseline to week 24 and with a 6-fold increase at week 36 (P = 0. 004 and 0. 02 compared without V38A/E, respectively), without significant correlation with viraemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 69, "end": 72}], "disease": [{"text": "viraemia", "start": 244, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "We assessed whether the shed ectodomain of CSPG4 (sCSPG4) might circulate and reflect potential changes in CSPG4 tissue expression (pCSPG4) due to desmoplastic and malignant aberrations occurring in pancreatic tumors.", "output": {"entities": {"gene": [{"text": "CSPG4", "start": 43, "end": 48}], "disease": [{"text": "desmoplastic", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Although our novel results are limited to the wild-type-p53-expressing clone from a p53-deficient cell line, we suggest that the absence of p53 in carcinoma cells may reduce the induction of CD4 + cytotoxic-T-cell activity against carcinoma cells by diminishing the expression of class-II antigen.", "output": {"entities": {"gene": [{"text": "CD4", "start": 191, "end": 194}], "disease": [{"text": "carcinoma", "start": 147, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The serotoninergic system is believed to be involved in suicidal behavior and there is evidence of biological abnormalities of two serotonin receptors (HTR2A, HTR2C) and one serotonin transporter (5HTT) in suicide victims.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 174, "end": 195}], "disease": [{"text": "abnormalities", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase 2 genetic polymorphism may increase the risk of developing leukoaraiosis in Chinese.", "output": {"entities": {"gene": [{"text": "Cyclooxygenase 2", "start": 0, "end": 16}], "disease": [{"text": "leukoaraiosis", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The study found no association between ASP and the two polymorphisms examined, although some associations were found between TNF2 and TNFB2 alleles with the development of early septic shock in ASP.", "output": {"entities": {"gene": [{"text": "ASP", "start": 39, "end": 42}], "disease": [{"text": "septic shock", "start": 178, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Na (+)/Ca2 + exchanger (NCX) is a plasma membrane transporter that, by regulating Ca2 + and Na (+) homeostasis, contributes to brain stroke damage.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 7, "end": 10}], "disease": [{"text": "stroke", "start": 133, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Measurements of IGF-I and IGFBP-3 during the 1st year of life were analyzed in 11 patients clinically suspected of having GHD (neonatal hypoglycemia, micropenis, or evidence of other pituitary hormone deficiencies), in whom the diagnosis was later verified.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 16, "end": 21}], "disease": [{"text": "neonatal hypoglycemia", "start": 127, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Crk-like (CRKL) is an adapter protein that has crucial roles in multiple biological processes, including cell proliferation, adhesion, and migration.", "output": {"entities": {"gene": [{"text": "CRKL", "start": 10, "end": 14}], "disease": [{"text": "adhesion", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Suppression of ovarian carcinoma cell growth in vivo by the interferon-inducible plasma membrane protein, phospholipid scramblase 1.", "output": {"entities": {"gene": [{"text": "phospholipid scramblase 1", "start": 106, "end": 131}], "disease": [{"text": "ovarian carcinoma", "start": 15, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Coexpression of IL-11Ralpha and gp130 was commonly observed in both benign ovarian tumors and in the epithelial layer of normal ovaries.", "output": {"entities": {"gene": [{"text": "IL-11Ralpha", "start": 16, "end": 27}], "disease": [{"text": "ovarian tumors", "start": 75, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-11Ralpha", "start": 16, "end": 27}, "tail": {"text": "ovarian tumors", "start": 75, "end": 89}}]}}, "schema": []}
{"input": "ATV/RTV treatment of mothers does not appear to exacerbate neonatal physiologic hyperbilirubinemia.", "output": {"entities": {"gene": [{"text": "ATV", "start": 0, "end": 3}], "disease": [{"text": "physiologic hyperbilirubinemia", "start": 68, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi.", "output": {"entities": {"gene": [{"text": "NRAS", "start": 0, "end": 4}], "disease": [{"text": "congenital melanocytic nevi", "start": 62, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NRAS", "start": 0, "end": 4}, "tail": {"text": "congenital melanocytic nevi", "start": 62, "end": 89}}]}}, "schema": []}
{"input": "We observed the effect of deregulating Notch3 signaling on the following cell properties: Notch-related proteins, cell morphology, adhesion, epithelial-mesenchymal transition (EMT), motility, proliferation and neuroendocrine (NE) features of SCLC.", "output": {"entities": {"gene": [{"text": "Notch3", "start": 39, "end": 45}], "disease": [{"text": "adhesion", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "To explore the effects of genetic variation in the PTH pathway, we have analysed variations in PTH, PTHLH, PTHR1 and PTHR2 in relation to bone mass and fracture incidence in elderly women.", "output": {"entities": {"gene": [{"text": "PTHR2", "start": 117, "end": 122}], "disease": [{"text": "bone mass", "start": 138, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "PURPOSE: Recently, a single-nucleotide polymorphism in the MDM2 promoter (SNP309) has been found to lower the age of onset of tumors and increase the occurrence of multiple primary tumors in Li-Fraumeni syndrome, and accelerate the development of sporadic adult soft tissue sarcoma.", "output": {"entities": {"gene": [{"text": "Li-Fraumeni syndrome", "start": 191, "end": 211}], "disease": [{"text": "sporadic", "start": 247, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "In this review we will discuss recent progress made in the understanding of the BAFF/APRIL-TACI/BCMA/BAFF receptor system in relation to the recent discovery that mutations in human TACI cause a primary humoral immunodeficiency.", "output": {"entities": {"gene": [{"text": "TACI", "start": 91, "end": 95}], "disease": [{"text": "humoral immunodeficiency", "start": 203, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults.", "output": {"entities": {"gene": [{"text": "GFR", "start": 94, "end": 97}], "disease": [{"text": "albuminuria", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.", "output": {"entities": {"gene": [{"text": "XNP", "start": 36, "end": 39}], "disease": [{"text": "Smith-Fineman-Myers syndrome", "start": 75, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XNP", "start": 36, "end": 39}, "tail": {"text": "Smith-Fineman-Myers syndrome", "start": 75, "end": 103}}]}}, "schema": []}
{"input": "Reduced dose bolus alteplase vs conventional alteplase infusion for pulmonary embolism thrombolysis. An international multicenter randomized trial. The Bolus Alteplase Pulmonary Embolism Group.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 19, "end": 28}], "disease": [{"text": "pulmonary embolism", "start": 68, "end": 86}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alteplase", "start": 19, "end": 28}, "tail": {"text": "pulmonary embolism", "start": 68, "end": 86}}]}}, "schema": []}
{"input": "After drug withdrawal, reemergence of clonal EGFR mutations on extrachromosomal DNA follows.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 45, "end": 49}], "disease": [{"text": "drug withdrawal", "start": 6, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We performed a detailed mutation analysis of the p50 subunit of NF-kappaB (NFKB1 gene) in 96 sporadic PD patients.", "output": {"entities": {"gene": [{"text": "NFKB1 gene", "start": 75, "end": 85}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "and clinical virilization, while five had hypertension [mean systolic blood pressure (SBP) 130 mmHg, diastolic blood pressure (DBP) 83 mmHg].", "output": {"entities": {"gene": [{"text": "DBP", "start": 127, "end": 130}], "disease": [{"text": "systolic blood pressure", "start": 61, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "ARNTL rs6486120 T (+) allelic status (P = 0. 0007, q = 0. 17), ADCYAP1 rs2856966 GG genotype (P = 0. 0006, q = 0. 17) and VIP CC haplotype (rs3823082-rs688136) (P = 0. 0006) were suggestively associated with alcohol consumption in socially drinking controls.", "output": {"entities": {"gene": [{"text": "VIP", "start": 122, "end": 125}], "disease": [{"text": "alcohol consumption", "start": 208, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "To determine the effects of the proinflammatory cytokine combination of oncostatin M (OSM) and tumor necrosis factor alpha (TNFalpha) on cartilage destruction in both in vitro and in vivo model systems.", "output": {"entities": {"gene": [{"text": "OSM", "start": 86, "end": 89}], "disease": [{"text": "cartilage destruction", "start": 137, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 205, "end": 210}], "disease": [{"text": "Kallmann syndrome", "start": 55, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR1", "start": 205, "end": 210}, "tail": {"text": "Kallmann syndrome", "start": 55, "end": 72}}]}}, "schema": []}
{"input": "Furthermore, TP53 and NF2 gene mutations do not play an important role in the etiology of sporadic pediatric ependymomas.", "output": {"entities": {"gene": [{"text": "TP53", "start": 13, "end": 17}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Previously, we reported that hypermethylation of hMLH1 might play an important role in the tumorigenesis of right-sided sporadic CRCs with MSI showing less frequency of KRAS/TP53 alteration.", "output": {"entities": {"gene": [{"text": "TP53", "start": 174, "end": 178}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "AAV exploits subcellular stress associated with inflammation, endoplasmic reticulum expansion, and misfolded proteins in models of cystic fibrosis.", "output": {"entities": {"gene": [{"text": "AAV", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.", "output": {"entities": {"gene": [{"text": "ABHD12", "start": 117, "end": 123}], "disease": [{"text": "PHARC", "start": 53, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABHD12", "start": 117, "end": 123}, "tail": {"text": "PHARC", "start": 53, "end": 58}}]}}, "schema": []}
{"input": "These PCR-signals were derived from CD45 (+)-infiltrating leukocytes and not from tumor cells since (I) MMM depleted of CD45 + cells contained no B7-1 or B7-2 mRNA; and (2) by IH, B7-1 and B7-2 were found on infiltrating dendritic cells, macrophages and a variable proportion of tumor-infiltrating lymphocytes (TIL) but not on melanoma cells or nevus cells.", "output": {"entities": {"gene": [{"text": "B7-2", "start": 154, "end": 158}], "disease": [{"text": "nevus", "start": 345, "end": 350}]}, "relations": {}}, "schema": []}
{"input": "Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.", "output": {"entities": {"gene": [{"text": "S100A10", "start": 77, "end": 84}], "disease": [{"text": "medulloblastoma", "start": 134, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A10", "start": 77, "end": 84}, "tail": {"text": "medulloblastoma", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "Thus, AEP might be one of the proteinases activated by acidosis triggering neuronal injury during neuroexcitotoxicity or ischemia.", "output": {"entities": {"gene": [{"text": "AEP", "start": 6, "end": 9}], "disease": [{"text": "acidosis", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Mucosal hyperemia, after exposure to capsaicin, is mediated by calcitonin gene-related peptide (CGRP) from these neurons, which also contain substance P (SP).", "output": {"entities": {"gene": [{"text": "CGRP", "start": 96, "end": 100}], "disease": [{"text": "hyperemia", "start": 8, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the discovered effect of ERLIN2 loss on cell growth may advance understanding of the mechanism behind motor neuron degeneration in PLS.", "output": {"entities": {"gene": [{"text": "ERLIN2", "start": 38, "end": 44}], "disease": [{"text": "neuron degeneration", "start": 121, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERLIN2", "start": 38, "end": 44}, "tail": {"text": "neuron degeneration", "start": 121, "end": 140}}]}}, "schema": []}
{"input": "A miR-297/hypoxia/DGK-α axis regulating glioblastoma survival.", "output": {"entities": {"gene": [{"text": "DGK-α", "start": 18, "end": 23}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that gastric cancer-derived PTX3 promotes macrophage recruitment, which may contribute to gastric cancer-related inflammation.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 49, "end": 53}], "disease": [{"text": "inflammation", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "FSH receptor polymorphisms at position 680 were studied in a population of 68 infertile women.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 0, "end": 12}], "disease": [{"text": "infertile", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The familial cancer syndrome Birt-Hogg-Dube syndrome is characterised by the development of skin (fibrofolliculomas) and renal tumours (and lung cysts) and is caused by mutations in the FLCN tumour suppressor gene.", "output": {"entities": {"gene": [{"text": "FLCN", "start": 186, "end": 190}], "disease": [{"text": "familial cancer", "start": 4, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The identified phage-expressed proteins were then used to develop phage protein ELISA to measure matching autoantibodies using 70 HCC patients, 50 chronic hepatitis patients, and 70 normal serum samples.", "output": {"entities": {"gene": [{"text": "HCC", "start": 130, "end": 133}], "disease": [{"text": "chronic hepatitis", "start": 147, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that the GluR2 gene has an open chromatin configuration in human glioma cells.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 23, "end": 28}], "disease": [{"text": "glioma", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We report the cDNA cloning and characterization of GTT1/StarD7, a novel gestational trophoblastic tumour gene, initially identified by its up-regulated expression in the choriocarcinoma JEG-3 cell line with respect to their nonmalignant counterpart, complete hydatidiform mole and normal trophoblastic tissue.", "output": {"entities": {"gene": [{"text": "StarD7", "start": 56, "end": 62}], "disease": [{"text": "complete hydatidiform mole", "start": 250, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "We report a similar translocation of EWS and FLI1 in an Askin' s tumor cell line (SK-NM-C).", "output": {"entities": {"gene": [{"text": "EWS", "start": 37, "end": 40}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their histopathologic appearances and that each of these types differs from breast cancers in patients unselected for family history (i. e., sporadic cancers).", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 88, "end": 98}], "disease": [{"text": "sporadic", "start": 276, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Regarding the role of IL-19 on the innate immunity and inflammation, interestingly, in vitro studies have shown that lipopolysaccharide can stimulate human monocytes and macrophages to upregulate the expression of IL-19.", "output": {"entities": {"gene": [{"text": "IL-19", "start": 22, "end": 27}], "disease": [{"text": "inflammation", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "A mutant SKI defective in transformation fails to increase p53 ubiquitination and is unable to increase MDM2 levels and to increase mono-sumoylation of Ubc9, suggesting that the ability of SKI to enhance Ubc9 activity is essential for its transforming function.", "output": {"entities": {"gene": [{"text": "SKI", "start": 9, "end": 12}], "disease": [{"text": "mono", "start": 132, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that variation in CCK may be involved in several anxiety phenotypes and CCKAR may be involved in the development of panic co-morbid with bipolar disorder.", "output": {"entities": {"gene": [{"text": "CCKAR", "start": 89, "end": 94}], "disease": [{"text": "bipolar disorder", "start": 154, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCKAR", "start": 89, "end": 94}, "tail": {"text": "bipolar disorder", "start": 154, "end": 170}}]}}, "schema": []}
{"input": "Importantly, in combination with CMF, anti-CSF-1 Fab reversed chemoresistance of MCF-7 xenografts, suppressing tumor development by 56%, down-regulating expression of the chemoresistance genes breast cancer-related protein, multidrug resistance gene 1, and glucosylceramide synthase, and prolonging survival significantly.", "output": {"entities": {"gene": [{"text": "CSF-1", "start": 43, "end": 48}], "disease": [{"text": "breast cancer", "start": 193, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSF-1", "start": 43, "end": 48}, "tail": {"text": "breast cancer", "start": 193, "end": 206}}]}}, "schema": []}
{"input": "This suggests that there are molecular pathways common to FAD and sporadic AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 58, "end": 61}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Proportion of reactive airway disease, obstructive pulmonary disease, and pre-existing anxiety disorder or bipolar disorder were significantly increased in persons carrying AAT non-M polymorphisms compared to normal MM genotype (respectively, 10, 20, 21, and 33% compared to 8, 12, 11, and 9%; contingency table, pulmonary: chi2 37, p = 0. 0001; affective disorder: chi2 = 171, p = 0. 0001).", "output": {"entities": {"gene": [{"text": "AAT", "start": 173, "end": 176}], "disease": [{"text": "bipolar disorder", "start": 107, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AAT", "start": 173, "end": 176}, "tail": {"text": "bipolar disorder", "start": 107, "end": 123}}]}}, "schema": []}
{"input": "The intronic variant, IVS25 + 15 [G--> A], was significantly associated with blood pressure; GG homozygotes had significantly lower levels of diastolic blood pressure (DBP) (-2. 8 mm Hg; P = 0. 016) and systolic blood pressure (SBP) (-1. 9 mm Hg; P = 0. 018) than A-allele carriers.", "output": {"entities": {"gene": [{"text": "DBP", "start": 168, "end": 171}], "disease": [{"text": "systolic blood pressure", "start": 203, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The present study was carried out to investigate the polymorphisms of the position-308 promoter region of the TNF-alpha gene, as well as of the intron 1 of the TNF-beta gene in patients with melioidosis compared with normal uninfected controls in the same endemic area.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 114, "end": 124}], "disease": [{"text": "melioidosis", "start": 191, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Finally, overexpression of either human EAF2 or RBBP4 in LNCaP cells induced the cell death while knockdown of EAF2 in LNCaP enhanced cell proliferation, indicating an important role of EAF2 in controlling the growth and survival of prostate cancer cells.", "output": {"entities": {"gene": [{"text": "EAF2", "start": 40, "end": 44}], "disease": [{"text": "prostate cancer", "start": 233, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Adiponectin protects against myocardial ischemia-reperfusion injury through AMPK-and COX-2-dependent mechanisms.", "output": {"entities": {"gene": [{"text": "Adiponectin", "start": 0, "end": 11}], "disease": [{"text": "myocardial ischemia-reperfusion injury", "start": 29, "end": 67}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Adiponectin", "start": 0, "end": 11}, "tail": {"text": "myocardial ischemia-reperfusion injury", "start": 29, "end": 67}}]}}, "schema": []}
{"input": "The BRAF V600E mutation is specifically associated with sporadic MSI + CRCs with methylated MLH1, but is not associated with Lynch syndrome-related CRCs.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 4, "end": 8}], "disease": [{"text": "MSI", "start": 65, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BRAF", "start": 4, "end": 8}, "tail": {"text": "MSI", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.", "output": {"entities": {"gene": [{"text": "alpha-2-macroglobulin", "start": 23, "end": 44}], "disease": [{"text": "lung tumor", "start": 123, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha-2-macroglobulin", "start": 23, "end": 44}, "tail": {"text": "lung tumor", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "A possible role for dihydrodiol dehydrogenase in the formation of benzo [a] pyrene-DNA adducts in lung cancer cells and tumor tissues.", "output": {"entities": {"gene": [{"text": "dihydrodiol dehydrogenase", "start": 20, "end": 45}], "disease": [{"text": "tumor", "start": 120, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The polymorphisms of genes involved in carcinogen metabolic activation (CYP1A1, CYP2E1), detoxication (GSTM1, GSTT1, GSTM3, NAT2,) and DNA repair (XPD/A35931C-exon 23 and C22541A-exon 6/, XRCC1/G28152A-exon 10 and C26304T-exon 6/, XRCC3/C18067T/) were studied by PCR-based techniques to analyze genotypes and allele distribution in 84 patients with MPT correlated with 182 subjects with a single tumor of head and neck and 143 cancer-free male volunteers recruited from healthy smokers.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 110, "end": 115}], "disease": [{"text": "tumor of head and neck", "start": 396, "end": 418}]}, "relations": {}}, "schema": []}
{"input": "Moreover, silencing of PTPN1 by RNA interference in Hodgkin lymphoma cell line KM-H2 resulted in hyperphosphorylation and overexpression of downstream oncogenic targets.", "output": {"entities": {"gene": [{"text": "PTPN1", "start": 23, "end": 28}], "disease": [{"text": "Hodgkin lymphoma", "start": 52, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTPN1", "start": 23, "end": 28}, "tail": {"text": "Hodgkin lymphoma", "start": 52, "end": 68}}]}}, "schema": []}
{"input": "They also suggest that heparanase may play a novel role for COX-2 mediated tumor angiogenesis in breast-cancer progression.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 23, "end": 33}], "disease": [{"text": "breast-cancer", "start": 97, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "heparanase", "start": 23, "end": 33}, "tail": {"text": "breast-cancer", "start": 97, "end": 110}}]}}, "schema": []}
{"input": "Our findings suggest the following: (1) CD8 + cutaneous T cell lymphoma can be rapidly progressive or chronic.", "output": {"entities": {"gene": [{"text": "CD8", "start": 40, "end": 43}], "disease": [{"text": "rapidly progressive", "start": 79, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The keloid fibroblasts exhibited increased extracellular matrix gene expression, and prominent elevated type I procollagen mRNA when compared to control fibroblasts cultured from the uninvolved skin of normal people.", "output": {"entities": {"gene": [{"text": "type I procollagen", "start": 104, "end": 122}], "disease": [{"text": "keloid", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "One mutation (8%), an A to T transversion leading to an amino acid exchange, was found in exon 5 of the p53 gene in a sporadic MPNST.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 104, "end": 112}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In human skin squamous cell carcinoma (SCC) samples, we found an inverse correlation between Trim32 and Piasy expression supporting a role for Trim32-Piasy interaction in human epidermal carcinogenesis.", "output": {"entities": {"gene": [{"text": "Piasy", "start": 104, "end": 109}], "disease": [{"text": "skin squamous cell carcinoma", "start": 9, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Most IRFs regulate the expression of interferon-alpha and-beta after viral infection, but the function of IRF6 remains unknown.", "output": {"entities": {"gene": [{"text": "IRF6", "start": 106, "end": 110}], "disease": [{"text": "viral infection", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Altogether, our results show that S1P induces cardiomyocyte hypertrophy mainly via the EDG1 receptor and subsequently via Gi through ERKs, p38 MAPK, JNK, PI3K and via Rho pathway.", "output": {"entities": {"gene": [{"text": "JNK", "start": 149, "end": 152}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 46, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Fourteen patients met the inclusion criteria, including 5 with lymphoplasmacytic lymphoma (LPL), 3 with chronic lymphocytic leukemia/small lymphocytic lymphoma, 2 with follicular lymphoma (FL), and 4 with low-grade B-cell lymphoma not otherwise specified (LGBCL-NOS).", "output": {"entities": {"gene": [{"text": "LPL", "start": 91, "end": 94}], "disease": [{"text": "follicular lymphoma", "start": 168, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Little is known about CHRNA5-A3-B4 and its association with smoking behaviors and weight in Alaska Native people, which is a population with high prevalence but low levels of tobacco consumption, extensive smokeless tobacco use and high rates of obesity.", "output": {"entities": {"gene": [{"text": "CHRNA5", "start": 22, "end": 28}], "disease": [{"text": "weight", "start": 82, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In postmenopausal women, one SNP (TP53-rs1042522), age, body mass index, age at menopause, serum levels of testosterone, and IGF1 were identified as risk predictors.", "output": {"entities": {"gene": [{"text": "TP53", "start": 34, "end": 38}], "disease": [{"text": "body mass index", "start": 56, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Patients with relatively silent but invasive bacterial infection should raise suspicion of IRAK-4 immunodeficiency.", "output": {"entities": {"gene": [{"text": "IRAK", "start": 91, "end": 95}], "disease": [{"text": "immunodeficiency", "start": 98, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "A novel transcript for the thyrotropin-releasing hormone receptor in human pituitary and pituitary tumors.", "output": {"entities": {"gene": [{"text": "thyrotropin-releasing hormone receptor", "start": 27, "end": 65}], "disease": [{"text": "pituitary tumors", "start": 89, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Previously, sedentary carriers of a missense mutation of KCNQ1 gene (LQT1, n = 7) and healthy controls (n = 8) exercised on a bicycle ergometer 3-4 times a week, 30 min a day at 60-75% of maximal heart rate (HR) for a maximum of 3 months.", "output": {"entities": {"gene": [{"text": "KCNQ1 gene", "start": 57, "end": 67}], "disease": [{"text": "heart rate", "start": 196, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "We conclude from these findings that p53 gene mutations in brain neoplasms are primarily limited to tumors of astrocytic origin and that the p53 gene mutations in sporadic astrocytomas are somatic in origin (i. e., nonprenatally determined).", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 37, "end": 45}], "disease": [{"text": "sporadic", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We investigated maternal NAT2 phenotype and the interaction with smoking and medication use periconceptionally on orofacial cleft and spina bifida risk in offspring.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 25, "end": 29}], "disease": [{"text": "smoking", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Cox proportional hazards regression model was used to examine the associations of IGF markers with patient survival.", "output": {"entities": {"gene": [{"text": "IGF", "start": 82, "end": 85}], "disease": [{"text": "regression", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Patients with a single tumor nodule, less than 5 cm in diameter, no tumor emboli, no daughter nodules and necrosis had relatively better prognosis; patients with euploidy HCC had better prognosis than those with aneuploidy; among the aneuploidy patients those with DI < 1. 5 had better prognosis than the cases with DI > 1. 5; The higher the PCNA-LI, the worse would be the prognosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 171, "end": 174}], "disease": [{"text": "nodule", "start": 29, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Further monitoring included the assessment of complement factors (C3, C4), platelets, fibrinogen, ATIII, and graft histology.", "output": {"entities": {"gene": [{"text": "ATIII", "start": 98, "end": 103}], "disease": [{"text": "fibrinogen", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Here we report evidence that mutations in TITF-1 are associated with BHC.", "output": {"entities": {"gene": [{"text": "TITF-1", "start": 42, "end": 48}], "disease": [{"text": "BHC", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TITF-1", "start": 42, "end": 48}, "tail": {"text": "BHC", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "Liver-specific PRSS8 knockout (LKO) mice develop insulin resistance associated with the increase in hepatic TLR4.", "output": {"entities": {"gene": [{"text": "PRSS8", "start": 15, "end": 20}], "disease": [{"text": "insulin resistance", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We sequenced TP53 exons 2 to 9 in 21 BRCA1-related breast cancers and 37 sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "TP53", "start": 13, "end": 17}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "To localize and evaluate the expression of ZO-1 in the normal human pancreas, in pancreatic ductal adenocarcinoma (PDAC), and in chronic pancreatitis (CP).", "output": {"entities": {"gene": [{"text": "ZO-1", "start": 43, "end": 47}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 81, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To determine whether pterygium is a disorder of abnormal growth by examining the expression of the p53 gene in the conjunctiva of patients with pterygium.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 99, "end": 107}], "disease": [{"text": "abnormal growth", "start": 48, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Statistical analyses indicated that overexpression of the EGFR cascade is significantly correlated to cannabis smoking.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 58, "end": 62}], "disease": [{"text": "cannabis", "start": 102, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGFR", "start": 58, "end": 62}, "tail": {"text": "cannabis", "start": 102, "end": 110}}]}}, "schema": []}
{"input": "To evaluate the possible role of cytokines in human immunodeficiency virus (HIV)-associated muscular disorders, we performed immunocytochemistry for interleukin-1 alpha,-1 beta, and-6 and tumor necrosis factor-alpha on frozen muscle biopsy specimens from HIV-infected patients with various myopathies (HIV polymyositis in 5, HIV-wasting syndrome in 5, zidovudine myopathy in 10) and from seronegative individuals (normal muscle in 2, mitochondrial cytopathies in 10).", "output": {"entities": {"gene": [{"text": "tumor necrosis factor-alpha", "start": 188, "end": 215}], "disease": [{"text": "HIV-wasting syndrome", "start": 325, "end": 345}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor-alpha", "start": 188, "end": 215}, "tail": {"text": "HIV-wasting syndrome", "start": 325, "end": 345}}]}}, "schema": []}
{"input": "The polymorphic markers RAF1, D3S18, and D3S191 should be useful in identifying asymptomatic gene carriers in VHL families and in guiding efforts at gene isolation.", "output": {"entities": {"gene": [{"text": "RAF1", "start": 24, "end": 28}], "disease": [{"text": "asymptomatic", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Moreover, MSC-mediated Ad-PEDF delivery reduced production of adenovirus-neutralizing antibodies, prolonged PEDF expression, and induced MSCs-PEDF migration toward tumor cells.", "output": {"entities": {"gene": [{"text": "MSC", "start": 10, "end": 13}], "disease": [{"text": "adenovirus", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Transcription factors such as USF1/2, JunB, Sp1, and CTCF were found to associate with regulatory regions of the human HO-1 gene in the kidney following rhabdomyolysis.", "output": {"entities": {"gene": [{"text": "USF1", "start": 30, "end": 34}], "disease": [{"text": "rhabdomyolysis", "start": 153, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Metformin treatment significantly improved hyperandrogenism, menstrual cyclicity, body weight, and insulin resistance independent of GNAS1 genotype.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 133, "end": 138}], "disease": [{"text": "body weight", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Rats (n = 60) received sham-operation (sham), 5 days hyperammonaemia-inducing diet (HD), galactosamine (GALN) induced acute liver failure (ALF), 4 weeks bile duct-ligation (BDL) induced cirrhosis, or caecal ligation and puncture (CLP), a 24h model of bacterial peritonitis.", "output": {"entities": {"gene": [{"text": "ALF", "start": 139, "end": 142}], "disease": [{"text": "bacterial peritonitis", "start": 251, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Here we show that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1alpha (HNF-1alpha, which is encoded by the gene TCF1).", "output": {"entities": {"gene": [{"text": "TCF1", "start": 167, "end": 171}], "disease": [{"text": "MODY3", "start": 36, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF1", "start": 167, "end": 171}, "tail": {"text": "MODY3", "start": 36, "end": 41}}]}}, "schema": []}
{"input": "Furthermore, in normal human kidney tissue, endogenous SLC41A1 specifically localized to renal tubules situated at the corticomedullary boundary, consistent with the region of cystogenesis observed in NPHP and related ciliopathies.", "output": {"entities": {"gene": [{"text": "SLC41A1", "start": 55, "end": 62}], "disease": [{"text": "NPHP", "start": 201, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC41A1", "start": 55, "end": 62}, "tail": {"text": "NPHP", "start": 201, "end": 205}}]}}, "schema": []}
{"input": "Thus, in ureter development, the absence of CK15 is associated with a structurally simplified urothelium whereas, postnatally, increased CK15 levels feature in malignant urothelial overgrowth.", "output": {"entities": {"gene": [{"text": "CK15", "start": 44, "end": 48}], "disease": [{"text": "overgrowth", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: This suggests a pivotal role for IL-8/CXCL8 in periapical disease because of its ability to induce chemotaxis and modulating the directed migration of neutrophils to the site of inflammation in response to microbial infection of pulp.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 45, "end": 49}], "disease": [{"text": "periapical disease", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.", "output": {"entities": {"gene": [{"text": "ATP6V1B1", "start": 4, "end": 12}], "disease": [{"text": "dRTA", "start": 93, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP6V1B1", "start": 4, "end": 12}, "tail": {"text": "dRTA", "start": 93, "end": 97}}]}}, "schema": []}
{"input": "The purpose of our study was to evaluate the expression and correlation of heparanase and VEGF in hypoxia-induced retinal neovascularization.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 75, "end": 85}], "disease": [{"text": "retinal neovascularization", "start": 114, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of several genes were significantly increased in autism, including excitatory amino acid transporter 1 and glutamate receptor AMPA 1, two members of the glutamate system.", "output": {"entities": {"gene": [{"text": "excitatory amino acid transporter 1", "start": 83, "end": 118}], "disease": [{"text": "autism", "start": 65, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "excitatory amino acid transporter 1", "start": 83, "end": 118}, "tail": {"text": "autism", "start": 65, "end": 71}}]}}, "schema": []}
{"input": "Our aim was to find polymorphisms in the TNFSF11 gene promoter and to investigate their possible association with bone mineral density (BMD).", "output": {"entities": {"gene": [{"text": "TNFSF11 gene", "start": 41, "end": 53}], "disease": [{"text": "bone mineral density", "start": 114, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "This frequency of seizure-associated PSEN1 mutations may be an underestimate, as epileptic seizures may not be recognized as such in the context of a dementing disorder, perhaps being labeled as \" confusion \" or delirious episodes.", "output": {"entities": {"gene": [{"text": "PSEN1", "start": 37, "end": 42}], "disease": [{"text": "delirious", "start": 212, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Our present study highlights the importance of SP1/SP3 activity for CAIX expression and provides additional evidence for distinct mechanisms responsible for true and mild hypoxia-induced CAIX expression.", "output": {"entities": {"gene": [{"text": "SP3", "start": 51, "end": 54}], "disease": [{"text": "hypoxia", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Flow cytometry analysis indicated that ARHI blocked cell cycle progression at the G1 phase in pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 39, "end": 43}], "disease": [{"text": "pancreatic cancer", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants.", "output": {"entities": {"gene": [{"text": "GATA1", "start": 37, "end": 42}], "disease": [{"text": "acute basophilic leukemia", "start": 58, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA1", "start": 37, "end": 42}, "tail": {"text": "acute basophilic leukemia", "start": 58, "end": 83}}]}}, "schema": []}
{"input": "On the basis of these results, the clinical occurrence of amylase-producing cancer likely relates to the tissues expressing the AMY1 gene, while the AMY2B gene, which evolutionarily is the oldest gene among human amylase isogenes, is constitutively expressed in various tissues.", "output": {"entities": {"gene": [{"text": "AMY2B gene", "start": 149, "end": 159}], "disease": [{"text": "cancer", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In a rat model of transient global ischemia, AIF was found to translocate from mitochondria to the nucleus in the hippocampal CA1 neurons after ischemia and to manifest a DNA-degrading activity that mimicked the purified AIF protein and was inhibitable by AIF immunodepletion.", "output": {"entities": {"gene": [{"text": "CA1", "start": 126, "end": 129}], "disease": [{"text": "ischemia", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis.", "output": {"entities": {"gene": [{"text": "steroidogenic factor-1", "start": 30, "end": 52}], "disease": [{"text": "endometriosis", "start": 96, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "steroidogenic factor-1", "start": 30, "end": 52}, "tail": {"text": "endometriosis", "start": 96, "end": 109}}]}}, "schema": []}
{"input": "TNF-α induced NFκB p65 translocation and VCAM-1 promoter activity were not altered by roflumilast in SMCs.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "As susceptibility to sudden cardiac death is considered to be a heritable trait in general population, we have therefore investigated whether potentially functional variants of genes encoding RyR2 (ryanodine receptor 2) and the L-type Ca2 + channel are related to the risk of ventricular arrhythmias and sudden cardiac death in CHF (chronic heart failure) in a case-control study.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 235, "end": 238}], "disease": [{"text": "chronic heart failure", "start": 333, "end": 354}]}, "relations": {}}, "schema": []}
{"input": "Injections of IL-4 or IL-10 significantly inhibited TNBS-induced colon tissue damage, disease activity index (DAI) and body weight loss compared to the control mice.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 14, "end": 18}], "disease": [{"text": "body weight loss", "start": 119, "end": 135}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-4", "start": 14, "end": 18}, "tail": {"text": "body weight loss", "start": 119, "end": 135}}]}}, "schema": []}
{"input": "A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.", "output": {"entities": {"gene": [{"text": "gp91-phox", "start": 20, "end": 29}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "MPO-positive cell number was tightly linked to dysplasia in aberrant crypt foci and adenomas, and it was higher in carcinomas microsatellite unstable than those microsatellite stable (21. 6 +/-15. 5 versus 11. 9 +/-8. 0; P < 0. 01).", "output": {"entities": {"gene": [{"text": "MPO", "start": 0, "end": 3}], "disease": [{"text": "aberrant crypt foci", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 13, "end": 17}], "disease": [{"text": "May-Hegglin anomaly", "start": 32, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 13, "end": 17}, "tail": {"text": "May-Hegglin anomaly", "start": 32, "end": 51}}]}}, "schema": []}
{"input": "A decade after the first description of IL-2-deficient mice, the redundancy of IL-2 as a T cell growth factor is well accepted and the focus of research has shifted to the unexpected multiorgan autoimmunity and inflammation observed in mice lacking components of the IL-2/IL-2R system.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 40, "end": 44}], "disease": [{"text": "inflammation", "start": 211, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Highly liver-specific heme oxygenase-1 induction by interleukin-11 prevents carbon tetrachloride-induced hepatotoxicity.", "output": {"entities": {"gene": [{"text": "heme oxygenase-1", "start": 22, "end": 38}], "disease": [{"text": "liver", "start": 7, "end": 12}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "heme oxygenase-1", "start": 22, "end": 38}, "tail": {"text": "liver", "start": 7, "end": 12}}]}}, "schema": []}
{"input": "In the older obese vs older lean children: (1) CB1 Pr was decreased, (2) FAAHmRNA and DAGL-alpha mRNA were increased.", "output": {"entities": {"gene": [{"text": "DAGL-alpha", "start": 86, "end": 96}], "disease": [{"text": "obese", "start": 13, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "We have demonstrated the antiproliferative activity of Gleditsia sinensis fruit extract (GSE) on various human solid tumour cancer cell lines as well as leukaemia cell lines and primary cultured leukaemia cells obtained from leukaemia patients.", "output": {"entities": {"gene": [{"text": "GSE", "start": 89, "end": 92}], "disease": [{"text": "leukaemia", "start": 153, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate the effects of polymorphisms of the flavin-containing mono-oxygenase 3 (FMO3) and flavin-containing mono-oxygenase 6 (FMO6) genes on the pharmacokinetics of sulindac sulfide, the active metabolite of sulindac, in patients with preterm labor.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 104, "end": 108}], "disease": [{"text": "mono", "start": 86, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Further investigation of molecular characterization of this NUP98 translocation and interaction with 6p23 abnormalities might be worthwhile for understanding leukemogenesis.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 60, "end": 65}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.", "output": {"entities": {"gene": [{"text": "UGT1", "start": 63, "end": 67}], "disease": [{"text": "Crigler-Najjar syndrome type 2", "start": 93, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UGT1", "start": 63, "end": 67}, "tail": {"text": "Crigler-Najjar syndrome type 2", "start": 93, "end": 123}}]}}, "schema": []}
{"input": "Our findings suggest that TLR4/MyD88/NF-& #954; B signaling and PPAR-& #947; within the PVN are involved in the beneficial effects of telmisartan in hypertension.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 31, "end": 36}], "disease": [{"text": "hypertension", "start": 149, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MyD88", "start": 31, "end": 36}, "tail": {"text": "hypertension", "start": 149, "end": 161}}]}}, "schema": []}
{"input": "Here we show that in fibroblasts, GRK2 is able to increase ATP cellular content by enhancing mitochondrial biogenesis; also, it antagonizes ATP loss after hypoxia/reperfusion.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 34, "end": 38}], "disease": [{"text": "hypoxia", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The introduction of the glucokinase transgene in insulin receptor null mice did not prevent the development of glycosuria.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 49, "end": 65}], "disease": [{"text": "glycosuria", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "There was a 2. 73 times (95% CI: 1. 32 approximately 5. 64) increased risk of silicosis for individuals with C allele of NRAMP1 INT4 compared with individuals carrying homozygote (G/G), while SNPs of NRAMP1 D543N was not associated with PTB (P > 0. 05).", "output": {"entities": {"gene": [{"text": "PTB", "start": 237, "end": 240}], "disease": [{"text": "silicosis", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Notably, Ras-induced nuclear accumulation of activated MEK1/2 was reliant on downregulation of the spatial regulator Sef, the reexpression of which was sufficient to restore normal MEK1/2 localization and a reversal of Ras-induced proliferation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 55, "end": 59}], "disease": [{"text": "tumorigenesis", "start": 249, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "The increase in CSF levels of lactate dehydrogenase (LDH), glucose-6-phosphate isomerase (G6PI), and fructose-bisphosphate aldolase A (ALDOA) were validated on a larger group of sCJD patients including three possible codon 129 polymorphism carriers and three control groups consisting of nondemented, neurological cases as well as patients suffering from Alzheimer' s disease or vascular dementia.", "output": {"entities": {"gene": [{"text": "ALDOA", "start": 135, "end": 140}], "disease": [{"text": "vascular dementia", "start": 379, "end": 396}]}, "relations": {}}, "schema": []}
{"input": "Previous in vitro experiments demonstrated that Skp2, an E3 ubiquitin ligase aberrantly overexpressed in PCa, is involved in the proteolytic degradation of BRCA2 in PCa cells, suggesting that the BRCA2-Skp2 interaction may play a role in prostate tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 156, "end": 161}], "disease": [{"text": "tumorigenesis", "start": 247, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "BX795 inhibition of TBK1 impaired MVNP-induced IL-6 expression in both NIH3T3 cells and BMM, and shRNA knockdown of Tbk1 in NIH3T3 cells impaired IL-6 secretion induced by MVNP and decreased TAF12 and ATF7, factors involved in 1, 25 (OH) 2 D3 hypersensitivity of pagetic osteoclasts.", "output": {"entities": {"gene": [{"text": "TAF12", "start": 191, "end": 196}], "disease": [{"text": "hypersensitivity", "start": 243, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity detected using chromosome 13q markers in the vicinity of BRCA2 is observed in most cancers arising in carriers of germline BRCA2 mutations and also in 30-50% of sporadic breast and ovarian cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 80, "end": 85}], "disease": [{"text": "sporadic", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "IL-4 deficiency greatly reduced, but did not eliminate, TSLP-induced airway hyperresponsiveness, airway inflammation, eosinophilia, and goblet cell metaplasia, while Stat6 deficiency eliminated these asthma-like symptoms.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.", "output": {"entities": {"gene": [{"text": "EDA", "start": 25, "end": 28}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 70, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA", "start": 25, "end": 28}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 70, "end": 103}}]}}, "schema": []}
{"input": "GRIK2 has been implicated in mood disorders, and editing of its I/V site can modulate Ca (+ 2) permeability of the channel, consistent with numerous observations of elevated intracellular Ca (+ 2) levels in BPD patients.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 0, "end": 5}], "disease": [{"text": "mood disorders", "start": 29, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 0, "end": 5}, "tail": {"text": "mood disorders", "start": 29, "end": 43}}]}}, "schema": []}
{"input": "All affected children had megaloblastic anemia accompanied by low serum B12 and normal serum folate levels.", "output": {"entities": {"gene": [{"text": "B12", "start": 72, "end": 75}], "disease": [{"text": "megaloblastic anemia", "start": 26, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations account for approximately 70% of the mutations in GS, and there is a predisposition to large rearrangements caused by the presence of repeated sequences within the SLC12A3.", "output": {"entities": {"gene": [{"text": "SLC12A3", "start": 183, "end": 190}], "disease": [{"text": "GS", "start": 69, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC12A3", "start": 183, "end": 190}, "tail": {"text": "GS", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "Our studies indicate that sulforaphane (SFN) enhances temozolomide (TMZ)-induced apoptosis because of down-regulation of miR-21 through Wnt/β-catenin signaling in glioblastoma (GBM) cells.", "output": {"entities": {"gene": [{"text": "SFN", "start": 40, "end": 43}], "disease": [{"text": "glioblastoma", "start": 163, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "However, it might not be sensitive enough to monitor longitudinal intrapatient viremia during STIs in patients with high CD4 (+)-T-cell counts potentially due to the production of high-affinity anti-p24 antibodies and clearance of immune complexes by erythrocytes.", "output": {"entities": {"gene": [{"text": "CD4", "start": 121, "end": 124}], "disease": [{"text": "viremia", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Thus, although prenatal alcohol had only small effects on DNA methylation at the Igf2 locus, placing dams on a methyl-supplemented diet partially ameliorated ethanol teratogenesis.", "output": {"entities": {"gene": [{"text": "Igf2", "start": 81, "end": 85}], "disease": [{"text": "teratogenesis", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In areas of lymphohistiocytic infiltration, mainly consisting of CD3 + CD4 + T cells and CD11c +, CD4 +/-, S100p + interstitial dendritic cells, and in areas of initial fibrosis, acini and ducts were HLA-DR +, acini CD95 +/CD95L-, and ducts CD95 +/CD95L-.", "output": {"entities": {"gene": [{"text": "S100p", "start": 107, "end": 112}], "disease": [{"text": "fibrosis", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The mean TRF length was decreased gradually with age in normal mucosa and in gastric cancer tissue.", "output": {"entities": {"gene": [{"text": "TRF", "start": 9, "end": 12}], "disease": [{"text": "gastric cancer", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In the control, immunofluorescence reactivity of DSCAM was detected in dentate gyrus granule cells and CA4 neurons but decreased after ischemia, being compatible with the immunoblotting data.", "output": {"entities": {"gene": [{"text": "DSCAM", "start": 49, "end": 54}], "disease": [{"text": "ischemia", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We found a significant increase in the production of the SEB-induced cytokines interleukin (IL)-5 and IL-13 in the patient group when compared with non-atopic, healthy controls.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 102, "end": 107}], "disease": [{"text": "atopic", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The promoter methylation of DAPK1, FHIT, MGMT, and CDKN2A was investigated by using a methylation-specific polymerase chain reaction in 53 specimens of cervical cancer (42 squamous cell carcinoma, 11 adenocarcinoma), 22 specimens of intraepithelial neoplasia tissues, and 24 control normal cervical tissue specimens.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 41, "end": 45}], "disease": [{"text": "intraepithelial neoplasia", "start": 233, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "This overgrowth syndrome caused by a gain-of-function mutation at NPR2 should be differentiated from Marfan or related syndromes, and may be categorized along with the overgrowth syndrome caused by overproduction of CNP due to its phenotypical similarity as overgrowth CNP/NPR2 signalopathy.", "output": {"entities": {"gene": [{"text": "NPR2", "start": 66, "end": 70}], "disease": [{"text": "overgrowth", "start": 5, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Expression of proapoptotic Bax, antiapoptotic Bcl-2 and Bcl-xL, nuclear proliferation protein MiB-1, and hypoxia-inducible factor 1alpha (Hif-1alpha) in peri-ischemic areas of the embolized angiofibromas was also assessed.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 56, "end": 62}], "disease": [{"text": "angiofibromas", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "By contrast, resveratrol, when applied for 7 days before MCAO onset, significantly reduced infarct volumes and enhanced neurological scores at 24 h after reperfusion, and these results were accompanied by elevated TRPC6 and p-CREB activity and decreased calpain activity.", "output": {"entities": {"gene": [{"text": "TRPC6", "start": 214, "end": 219}], "disease": [{"text": "infarct", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Organ-specific differences in epidermal growth factor receptor (EGFR) mutational spectra and frequencies were found in lung cancer and sporadic and BRCA1/2-related breast cancers.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 64, "end": 68}], "disease": [{"text": "sporadic", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "DACH1 blocked YB-1-induced mammary tumor growth and EMT in mice.", "output": {"entities": {"gene": [{"text": "EMT", "start": 52, "end": 55}], "disease": [{"text": "mammary tumor", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The AIM-2-reactive T-cell clone recognized a number of neuroectodermal tumors as well as breast, ovarian, and colon carcinomas that expressed HLA-A1, indicating that this represents a widely expressed tumor antigen.", "output": {"entities": {"gene": [{"text": "AIM", "start": 4, "end": 7}], "disease": [{"text": "carcinomas", "start": 116, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Together, these data suggest a role for GIP not only as an incretin hormone but also as a trigger of inflammation and insulin resistance in adipose tissue.", "output": {"entities": {"gene": [{"text": "GIP", "start": 40, "end": 43}], "disease": [{"text": "insulin resistance", "start": 118, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Moreover, our results demonstrate that the variable manifestation of CESD can be explained by mutation-dependent, variable inactivation of the LAL enzyme.", "output": {"entities": {"gene": [{"text": "LAL", "start": 143, "end": 146}], "disease": [{"text": "CESD", "start": 69, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LAL", "start": 143, "end": 146}, "tail": {"text": "CESD", "start": 69, "end": 73}}]}}, "schema": []}
{"input": "Although the overall frequency of mutations in TP53 and KRAS2 is similar, MSI positive tumors are less likely to have mutations in both genes than MSI negative sporadic endometrial carcinomas.", "output": {"entities": {"gene": [{"text": "TP53", "start": 47, "end": 51}], "disease": [{"text": "sporadic", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The expression of ARF4L mRNA was elevated at 12 h after hypoxia exposure, similarly to HSP70.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 87, "end": 92}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Ten of these 11 patients (91%) with maculopathy had a mutation in the VMD2 gene, of whom 8 were clinically diagnosed as having Best disease and 2 were diagnosed as having possible Best maculopathy.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 70, "end": 74}], "disease": [{"text": "Best disease", "start": 127, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 70, "end": 74}, "tail": {"text": "Best disease", "start": 127, "end": 139}}]}}, "schema": []}
{"input": "Results showed that (1) B7-H1 expression and mRNA are augmented in cells of HIV patients; (2) increased IL-10 production in these patients is largely induced by B7-H1-expressing CD14 (+) cells; (3) an inverse correlation is detected between B7-H1 expression and CD4 counts, whereas the up-regulation of B7-H1 is directly associated with HIV plasma viremia; (4) antiviral therapy results in the parallel down modulation of IL-10 production and B7-H1 expression/synthesis; and (5) B7-H1/CD80 and B7-H1/CD86 mRNA ratios are increased in peripheral blood mononuclear cells (PBMCs) of HIV patients compared with HCs.", "output": {"entities": {"gene": [{"text": "CD14", "start": 178, "end": 182}], "disease": [{"text": "viremia", "start": 348, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "The aim of the current study was to investigate whether and at what stage promoter hypermethylation of SST is involved in human esophageal carcinogenesis.", "output": {"entities": {"gene": [{"text": "SST", "start": 103, "end": 106}], "disease": [{"text": "esophageal", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate 1) heterogeneous effects of purinergic agonists on corporeal function in diabetic rats, and 2) the activation of P2Y1 and P2Y2 receptor relaxation of corpus cavernosum smooth muscle to induce erection in rats and perhaps improve erectile function in men with diabetes.", "output": {"entities": {"gene": [{"text": "P2Y2", "start": 148, "end": 152}], "disease": [{"text": "diabetes", "start": 285, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Eight SNPs (rs3746444T > C in hsa-mir-499, rs4919510C > G in hsa-mir-608, rs13299349G > A in hsa-mir-3152, rs12220909G > C in hsa-mir-4293, rs2168518G > A in hsa-mir-4513, rs8078913T > C in hsa-mir-4520a, rs11237828T > C in hsa-mir-5579, and rs9295535T > C in hsa-mir-5689) were analyzed in a southern Chinese population with 576 patients with lung cancer, and the significant results were validated in two additional cohorts of 346 and 368 patients, respectively.", "output": {"entities": {"gene": [{"text": "hsa-mir-4513", "start": 158, "end": 170}], "disease": [{"text": "lung cancer", "start": 344, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "In BRCA2-associated compared to sporadic patients, first DM more commonly occurred in lymph nodes (23% vs. 7%; P = 0. 007) and at multiple sites (48% vs. 32%; P = 0. 08).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 3, "end": 8}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The 22q13. 3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features.", "output": {"entities": {"gene": [{"text": "MIM", "start": 32, "end": 35}], "disease": [{"text": "neonatal hypotonia", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.", "output": {"entities": {"gene": [{"text": "FUT8", "start": 23, "end": 27}], "disease": [{"text": "Congenital Disorder of Glycosylation with Defective Fucosylation", "start": 36, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FUT8", "start": 23, "end": 27}, "tail": {"text": "Congenital Disorder of Glycosylation with Defective Fucosylation", "start": 36, "end": 100}}]}}, "schema": []}
{"input": "LPS and LAM activation of the U373 astrocytoma cell line: differential requirement for CD14.", "output": {"entities": {"gene": [{"text": "CD14", "start": 87, "end": 91}], "disease": [{"text": "astrocytoma", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "CD49f and CD61 identify Her2/neu-induced mammary tumor-initiating cells that are potentially derived from luminal progenitors and maintained by the integrin-TGFβ signaling.", "output": {"entities": {"gene": [{"text": "CD49f", "start": 0, "end": 5}], "disease": [{"text": "mammary tumor", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "A total of 213 cases of HCC were examined by fluorescent in situ hybridization using dual color break-apart ALK probes for the detection of chromosomal translocation and gene copy number gain.", "output": {"entities": {"gene": [{"text": "HCC", "start": 24, "end": 27}], "disease": [{"text": "chromosomal translocation", "start": 140, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we have expanded our previous studies to examine the protein and mRNA expression of two novel GABAA receptors, theta (GABR & #952;) and rho 2 (GABR & #961; 2) as well as FMRP, and metabotropic glutamate receptor 5 (mGluR5) in lateral cerebella of subjects with schizophrenia, bipolar disorder, major depression and healthy controls, and in superior frontal cortex (Brodmann Area 9 (BA9)) of subjects with schizophrenia, bipolar disorder and healthy controls.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 192, "end": 196}], "disease": [{"text": "major depression", "start": 316, "end": 332}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FMRP", "start": 192, "end": 196}, "tail": {"text": "major depression", "start": 316, "end": 332}}]}}, "schema": []}
{"input": "Novel mutation in exon 14 of the sarcomere gene MYH7 in familial left ventricular noncompaction with bicuspid aortic valve.", "output": {"entities": {"gene": [{"text": "MYH7", "start": 48, "end": 52}], "disease": [{"text": "left ventricular noncompaction", "start": 65, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH7", "start": 48, "end": 52}, "tail": {"text": "left ventricular noncompaction", "start": 65, "end": 95}}]}}, "schema": []}
{"input": "Our findings provide insight into TDP-43-mediated cytotoxicity and suggest that decreasing Dbr1 activity could be a potential therapeutic approach for ALS.", "output": {"entities": {"gene": [{"text": "Dbr1", "start": 91, "end": 95}], "disease": [{"text": "ALS", "start": 151, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Dbr1", "start": 91, "end": 95}, "tail": {"text": "ALS", "start": 151, "end": 154}}]}}, "schema": []}
{"input": "Weight loss decreases the expression of the tenomodulin (TNMD) mRNA in the adipose tissue, and the expression level is strongly correlated with body mass index.", "output": {"entities": {"gene": [{"text": "TNMD", "start": 57, "end": 61}], "disease": [{"text": "body mass index", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the mechanism of fractalkine (FKN)/CX3 CL1 synthesis and shedding in rheumatoid arthritis synovial fibroblasts (RASFs) and in rat adjuvant-induced arthritis (AIA).", "output": {"entities": {"gene": [{"text": "CL1", "start": 51, "end": 54}], "disease": [{"text": "rheumatoid arthritis", "start": 81, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "An & #945;-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.", "output": {"entities": {"gene": [{"text": "CTNNA1", "start": 22, "end": 28}], "disease": [{"text": "hereditary diffuse gastric cancer", "start": 42, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNNA1", "start": 22, "end": 28}, "tail": {"text": "hereditary diffuse gastric cancer", "start": 42, "end": 75}}]}}, "schema": []}
{"input": "We observed that VEGF regulates vascular permeability, monocyte infiltration, and scar-associated macrophages function.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "scar", "start": 82, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Total RNA was extracted from 16 urogenital cancer cells (including PSA-producing LNCaP cells) from pelvic and inguinal lymph node aspiration biopsy samples from patients with prostate, bladder, and penile cancer, as well as from blood samples of 500 patients with urogenital cancer.", "output": {"entities": {"gene": [{"text": "PSA", "start": 67, "end": 70}], "disease": [{"text": "urogenital cancer", "start": 32, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta.", "output": {"entities": {"gene": [{"text": "FAM20A", "start": 75, "end": 81}], "disease": [{"text": "enamel renal syndrome", "start": 49, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM20A", "start": 75, "end": 81}, "tail": {"text": "enamel renal syndrome", "start": 49, "end": 70}}]}}, "schema": []}
{"input": "In metastatic breast cancer cells, TLR4 signaling increased the expression of integrin αvβ3 by activating NF-κB, resulting in the increased adhesion capacity of tumor cells to the ligand for αvβ3, and the increased polymerization of actin and production of MMP-9 in tumor cells in response to ECM.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 106, "end": 111}], "disease": [{"text": "adhesion", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry with the same antibody showed signal translocation from the physiologic perinuclear compartment observed in glia and unrelated osteoblasts to nuclei of tumor cells, consistent with the likely function of EWSR1-CREB3L1 as a transcriptional regulator predicted by its structure.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 225, "end": 230}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "EGF was used to stimulate HKESC-1 cells, an esophageal squamous cancer cell line, in which beta-adrenoceptor activity was monitored by measuring intracellular cAMP levels in the absence or presence of beta-adrenoceptor antagonists.", "output": {"entities": {"gene": [{"text": "EGF", "start": 0, "end": 3}], "disease": [{"text": "esophageal", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the association of P479L with HDL-cholesterol was still significant after correcting for body mass index (BMI), percentage body fat (PBF), or waist circumference (WC).", "output": {"entities": {"gene": [{"text": "PBF", "start": 148, "end": 151}], "disease": [{"text": "body mass index", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Association of kinase insert domain-containing receptor (KDR) gene polymorphisms with idiopathic recurrent spontaneous abortion in Korean women.", "output": {"entities": {"gene": [{"text": "KDR", "start": 57, "end": 60}], "disease": [{"text": "recurrent spontaneous abortion", "start": 97, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "These immunologically' biphenotypic' BCP-cell lines are generally TdT + CD10 + CD13 + CD19 + CD22 + CD34 + and carry the Philadelphia (Ph) translocation.", "output": {"entities": {"gene": [{"text": "CD13", "start": 79, "end": 83}], "disease": [{"text": "translocation", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The gene product, GPSM2, is required for orienting the mitotic spindle during cell division in multiple tissues, suggesting that the sensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmetric cell divisions during development.", "output": {"entities": {"gene": [{"text": "GPSM2", "start": 18, "end": 23}], "disease": [{"text": "CMS", "start": 202, "end": 205}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPSM2", "start": 18, "end": 23}, "tail": {"text": "CMS", "start": 202, "end": 205}}]}}, "schema": []}
{"input": "Telemetric electrocardiogram recordings revealed a short QT interval in Lrp5-CKO mice, which was tightly linked to the striking abbreviation of action potential duration (APD) in ventricular myocytes.", "output": {"entities": {"gene": [{"text": "Lrp5", "start": 72, "end": 76}], "disease": [{"text": "short QT interval", "start": 51, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lrp5", "start": 72, "end": 76}, "tail": {"text": "short QT interval", "start": 51, "end": 68}}]}}, "schema": []}
{"input": "To determine whether genetic polymorphisms of PARP-1 are related to rheumatoid arthritis in a Korean population, six single nucleotide polymorphisms (SNPs), which were selected based on LDs and minor allele frequency (MAF > 0. 05) in our previous study, were genotyped in 1, 202 patients with rheumatoid arthritis and 979 unrelated healthy controls.", "output": {"entities": {"gene": [{"text": "MAF", "start": 218, "end": 221}], "disease": [{"text": "arthritis", "start": 79, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Lysophosphatidic acid (LPA) is enriched in ascites of ovarian cancer patients and is involved in growth and invasion of ovarian cancer cells.", "output": {"entities": {"gene": [{"text": "LPA", "start": 23, "end": 26}], "disease": [{"text": "ascites", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The selective cyclooxygenase-2 (COX-2) and 5-lipoxygenase (LOX) inhibitors might inhibit prostaglandin synthesis and reduce proteinuria.", "output": {"entities": {"gene": [{"text": "LOX", "start": 59, "end": 62}], "disease": [{"text": "proteinuria", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Remarkably, serum miR-195 had higher sensitivity, 73. 97% (108/146), as a tumor marker in the diagnosis of early stage BC [ductal carcinoma in situ, tumor-node-metastasis (TNM) I, II] compared with the conventional tumor markers CA153 and CEA (12. 41 and 7. 59%).", "output": {"entities": {"gene": [{"text": "CEA", "start": 239, "end": 242}], "disease": [{"text": "ductal carcinoma in situ", "start": 123, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Novel heterozygous c. 798C & gt; G and c. 1040T & gt; G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.", "output": {"entities": {"gene": [{"text": "GBA1", "start": 73, "end": 77}], "disease": [{"text": "Gaucher disease type 1", "start": 125, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GBA1", "start": 73, "end": 77}, "tail": {"text": "Gaucher disease type 1", "start": 125, "end": 147}}]}}, "schema": []}
{"input": "FOXC2 appears to be the primary cause of lymphedema-distichiasis syndrome and is also a cause of lymphedema in families displaying phenotypes attributed to other lymphedema syndromes.", "output": {"entities": {"gene": [{"text": "FOXC2", "start": 0, "end": 5}], "disease": [{"text": "lymphedema-distichiasis syndrome", "start": 41, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXC2", "start": 0, "end": 5}, "tail": {"text": "lymphedema-distichiasis syndrome", "start": 41, "end": 73}}]}}, "schema": []}
{"input": "To enable mutation analysis of RD at the genome level, we have elucidated the genomic organization of the PHYH gene.", "output": {"entities": {"gene": [{"text": "PHYH", "start": 106, "end": 110}], "disease": [{"text": "RD", "start": 31, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PHYH", "start": 106, "end": 110}, "tail": {"text": "RD", "start": 31, "end": 33}}]}}, "schema": []}
{"input": "Galectin-9 (Gal-9) is a β-galactosidase-binding lectin that promotes apoptosis, tissue inflammation, and T cell immune exhaustion, and alters HIV infection in part through engagement with the T cell immunoglobulin mucin domain-3 (Tim-3) receptor and protein disulfide isomerases (PDI).", "output": {"entities": {"gene": [{"text": "Tim-3", "start": 230, "end": 235}], "disease": [{"text": "inflammation", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The involvement of N-myc (and STAT) interactor (NMI) in tumorigenesis was sporadically reported but far from elucidation.", "output": {"entities": {"gene": [{"text": "NMI", "start": 48, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Strikingly, the four MeCP2-NID residues mutated in RTT are those residues that make the most extensive contacts with TBLR1.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 21, "end": 26}], "disease": [{"text": "RTT", "start": 51, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MeCP2", "start": 21, "end": 26}, "tail": {"text": "RTT", "start": 51, "end": 54}}]}}, "schema": []}
{"input": "FISH analysis revealed no translocations of the PAX5 gene, but polyploidy in some SCLC tumor tissues (6/37).", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "polyploidy", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS.", "output": {"entities": {"gene": [{"text": "IFT172", "start": 42, "end": 48}], "disease": [{"text": "MZSDS", "start": 79, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT172", "start": 42, "end": 48}, "tail": {"text": "MZSDS", "start": 79, "end": 84}}]}}, "schema": []}
{"input": "As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.", "output": {"entities": {"gene": [{"text": "NCAM1", "start": 131, "end": 136}], "disease": [{"text": "major depression", "start": 75, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NCAM1", "start": 131, "end": 136}, "tail": {"text": "major depression", "start": 75, "end": 91}}]}}, "schema": []}
{"input": "In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 218, "end": 222}], "disease": [{"text": "Greig syndrome", "start": 186, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLI3", "start": 218, "end": 222}, "tail": {"text": "Greig syndrome", "start": 186, "end": 200}}]}}, "schema": []}
{"input": "Since the serotonin transporter-linked polymorphic region (5-HTTLPR) is found to mediate stress vulnerability as well as to influence energy intake, this gene may also influence the negative effects of stress exposure on overeating.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 10, "end": 31}], "disease": [{"text": "overeating", "start": 221, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Many human tumors, including the cervical carcinoma line HeLa, have been reported to be deficient in expression of the gap junction protein connexin43 (Cx43) and GJIC.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 152, "end": 156}], "disease": [{"text": "cervical carcinoma", "start": 33, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We analysed, by reverse transcription-polymerase chain reaction (RT-PCR), the expression of DAZ, RBM and SRY genes, in testicular cells from infertile men affected by idiopathic severe hypospermatogenesis, obstructive azoospermia and Sertoli cell-only syndrome.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 92, "end": 95}], "disease": [{"text": "infertile", "start": 141, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic analysis showed that diabetes was significantly associated with age (odds ratio: 1. 26), overweight (1. 86), high triglycerides (1. 96), family history of hypertension (1. 86), heart rate (1. 05) and high C-reactive protein (3. 59), and IFG significantly associated with age (odds ratio: 1. 11), low high-density lipoprotein-cholesterol (1. 80), family history of hypertension (1. 60), heart rate (1. 03) and high C-reactive protein (2. 73).", "output": {"entities": {"gene": [{"text": "IFG", "start": 259, "end": 262}], "disease": [{"text": "heart rate", "start": 199, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan.", "output": {"entities": {"gene": [{"text": "IFNGR1 gene", "start": 9, "end": 20}], "disease": [{"text": "leishmaniasis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Recent evidence implicates a role of LPL in the brain in two processes: (a) the regulation of energy balance and body weight and (b) cognition.", "output": {"entities": {"gene": [{"text": "LPL", "start": 37, "end": 40}], "disease": [{"text": "body weight", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy.", "output": {"entities": {"gene": [{"text": "COL4A5", "start": 102, "end": 108}], "disease": [{"text": "mild", "start": 188, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "We found that the S100A11 gene expression is frequently up-regulated in PTC, anaplastic thyroid carcinoma, but not in follicular thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "S100A11 gene", "start": 18, "end": 30}], "disease": [{"text": "anaplastic thyroid carcinoma", "start": 77, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylation of WASF3 is required for its ability to affect invasion and increased phosphoactivation of WASF3 is also seen in cells challenged with hypoxia.", "output": {"entities": {"gene": [{"text": "WASF3", "start": 19, "end": 24}], "disease": [{"text": "hypoxia", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "This study investigates the correlation between p53 and β-catenin alterations and the molecular classification of ACC by transcriptome analysis of 51 adult sporadic ACCs.", "output": {"entities": {"gene": [{"text": "p53", "start": 48, "end": 51}], "disease": [{"text": "sporadic", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Ten of the likely effector genes, including TGFB1 (transforming growth factor beta 1), FGF18 (fibroblast growth factor 18), CTSK (cathepsin K), and IL11 (interleukin 11), have therapeutics approved or in clinical trials, with mechanisms of action supportive of evaluation for efficacy in osteoarthritis.", "output": {"entities": {"gene": [{"text": "CTSK", "start": 124, "end": 128}], "disease": [{"text": "osteoarthritis", "start": 288, "end": 302}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTSK", "start": 124, "end": 128}, "tail": {"text": "osteoarthritis", "start": 288, "end": 302}}]}}, "schema": []}
{"input": "Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 29, "end": 54}], "disease": [{"text": "acute intermittent porphyria", "start": 71, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 29, "end": 54}, "tail": {"text": "acute intermittent porphyria", "start": 71, "end": 99}}]}}, "schema": []}
{"input": "Our results suggest that loss-of-function mutations in FLG are not associated with type 2 diabetes, cardiovascular disease, and all-cause mortality.", "output": {"entities": {"gene": [{"text": "FLG", "start": 55, "end": 58}], "disease": [{"text": "cardiovascular disease", "start": 100, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression was used to identify factors associated with fibrosis at baseline, fibrosis progression (defined as 2-point increase in Ishak score), and HCC development.", "output": {"entities": {"gene": [{"text": "HCC", "start": 171, "end": 174}], "disease": [{"text": "fibrosis", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "As RANBP9 is a small guanosine‑5'‑triphosphate‑binding protein that interacts with the disrupted in schizophrenia 1 protein, it is considered to be an important molecule in the pathogenesis of schizophrenia.", "output": {"entities": {"gene": [{"text": "RANBP9", "start": 3, "end": 9}], "disease": [{"text": "schizophrenia 1", "start": 100, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.", "output": {"entities": {"gene": [{"text": "sucrase-isomaltase", "start": 11, "end": 29}], "disease": [{"text": "Congenital sucrase-isomaltase deficiency", "start": 0, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "sucrase-isomaltase", "start": 11, "end": 29}, "tail": {"text": "Congenital sucrase-isomaltase deficiency", "start": 0, "end": 40}}]}}, "schema": []}
{"input": "These results suggest that, as is the case with BRCA1, somatic mutations of BRCA2 are infrequent in sporadic ovarian cancer, despite the relatively high frequency of LOH detected around the BRCA2 locus.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 76, "end": 81}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied the expression of the ten-eleven translocation (TET) gene family and activation-induced deaminase/apolipoprotein B mRNA-editing enzymes (AID/APOBEC) in the inferior parietal lobule (IPL) (BA39-40) and the cerebellum of psychotic (PSY) patients, depressed (DEP) patients and nonpsychiatric (CTR) subjects obtained from the Stanley Foundation Neuropathology Consortium Medical Research Institute.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 115, "end": 131}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Examination of tissue specimens from the uterine adnexa involved in inflammation revealed a direct correlation in the levels of mRNA production between IL-6 and IL-10 (r = 0. 93, p < 0. 1), IL-6 and IL-4 (r = 0. 96, p < 0. 01), IL-10 and IL-4 (r = 0. 91, p < 0. 01), IL-12 and IFN-gamma (r = 0. 98, p < 0. 01).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 199, "end": 203}], "disease": [{"text": "inflammation", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Heritability of GFR and albuminuria in Caucasians with type 2 diabetes mellitus.", "output": {"entities": {"gene": [{"text": "GFR", "start": 16, "end": 19}], "disease": [{"text": "albuminuria", "start": 24, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We investigated podoplanin expression and its clinical relevance in a large series of sporadic GISTs.", "output": {"entities": {"gene": [{"text": "podoplanin", "start": 16, "end": 26}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "BMP-2, hypoxia, and COL1A1/HtrA1 siRNAs favor neo-cartilage hyaline matrix formation in chondrocytes.", "output": {"entities": {"gene": [{"text": "HtrA1", "start": 27, "end": 32}], "disease": [{"text": "hypoxia", "start": 7, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "C4 typing by Western blot analysis showed the frequency of the C4A * Q0 allele in the vitiligo patient group to be close to normal.", "output": {"entities": {"gene": [{"text": "C4A", "start": 63, "end": 66}], "disease": [{"text": "vitiligo", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Association of estrogen receptor beta gene polymorphisms with left ventricular mass and wall thickness in women.", "output": {"entities": {"gene": [{"text": "estrogen receptor beta", "start": 15, "end": 37}], "disease": [{"text": "left ventricular mass", "start": 62, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In this study, the prevalence of the Trp64Arg ADRB3 polymorphism in a large group of patients with OSAS and its association with body mass index (BMI), insulin resistance and hypertension were evaluated.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 46, "end": 51}], "disease": [{"text": "insulin resistance", "start": 152, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Conversely, biglycan deficiency improved systemic and renal outcome in lupus-prone mice, with lower levels of autoantibodies, less enlargement of the spleen and lymph nodes, and reduction in renal damage and albuminuria.", "output": {"entities": {"gene": [{"text": "biglycan", "start": 12, "end": 20}], "disease": [{"text": "albuminuria", "start": 208, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Taken together, AP-1 activation by both the ERK pathway and the p38 MAPK pathway as well as their binding to TRE at position-69 to-63 in proximal promoter and TRE at position-2276 to-2270 in enhancer region is altogether essential in induction of MCP-1 mRNA in HUVEC infected with O. tsutsugamushi.", "output": {"entities": {"gene": [{"text": "TRE", "start": 109, "end": 112}], "disease": [{"text": "tsutsugamushi", "start": 284, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "In colon cancer, SOCS-1, IGF-2, RUNX3, NEUROG1, and CACNA1G are commonly inactivated.", "output": {"entities": {"gene": [{"text": "NEUROG1", "start": 39, "end": 46}], "disease": [{"text": "colon cancer", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Treatment of the cultured calvaria and femur with PD98059, an Erk1/2 inhibitor, resulted in partially alleviated coronal suture fusion and growth retardation of femur respectively.", "output": {"entities": {"gene": [{"text": "Erk1", "start": 62, "end": 66}], "disease": [{"text": "growth retardation", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We found 33 MLC1 sequence variations, including three novel mutations: Val210Ile, Leu308Gln, and Arg328His in six BPAD cases and Val210Ile in one control individual.", "output": {"entities": {"gene": [{"text": "MLC1", "start": 12, "end": 16}], "disease": [{"text": "BPAD", "start": 114, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLC1", "start": 12, "end": 16}, "tail": {"text": "BPAD", "start": 114, "end": 118}}]}}, "schema": []}
{"input": "For rectal GC (88 infections detected), sensitivities were 43% for culture, 78% for SDA and 93% for AC2.", "output": {"entities": {"gene": [{"text": "SDA", "start": 84, "end": 87}], "disease": [{"text": "infections", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Salla disease, one of three disease phenotypes that manifest increased urinary excretion of unconjugated sialic acid, is an autosomal recessive condition caused by a mutation in SLC17A5.", "output": {"entities": {"gene": [{"text": "SLC17A5", "start": 178, "end": 185}], "disease": [{"text": "Salla disease", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC17A5", "start": 178, "end": 185}, "tail": {"text": "Salla disease", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "To explore the regulation of expression and the function of ZNF331 in human esophageal cancer, 11 esophageal cancer cell lines, 7 cases of normal esophageal mucosa and 99 cases of primary esophageal squamous cancer were employed.", "output": {"entities": {"gene": [{"text": "ZNF331", "start": 60, "end": 66}], "disease": [{"text": "esophageal", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The translocation resulted in an EWSR1-PBX3 fusion gene in which exon 9 of EWSR1 (nucleotide 1320 accession number NM_013986 version 3) was in-frame fused to exon 5 of PBX3 (nucleotide 824 accession number NM_006195 version 5).", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 33, "end": 38}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Widespread co-expression of FGFR1 and FGFR2 was observed in intimal smooth muscle cells, foam cells and the plaque microvasculature of simple and advanced lesions.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 28, "end": 33}], "disease": [{"text": "foam cells", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The KIF1A-related patients show clinical pictures overlapping the known AD-SPG30 phenotype including pure and complicated forms with few differences.", "output": {"entities": {"gene": [{"text": "KIF1A", "start": 4, "end": 9}], "disease": [{"text": "AD-SPG30", "start": 72, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF1A", "start": 4, "end": 9}, "tail": {"text": "AD-SPG30", "start": 72, "end": 80}}]}}, "schema": []}
{"input": "This and most other mutations causing 21-hydroxylase deficiency are normally present in the CYP21P pseudogene and have presumably been transferred to CYP21 by gene conversion.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 92, "end": 97}], "disease": [{"text": "21-hydroxylase deficiency", "start": 38, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 92, "end": 97}, "tail": {"text": "21-hydroxylase deficiency", "start": 38, "end": 63}}]}}, "schema": []}
{"input": "No APP duplication was found in the late-onset FAD families or sporadic EO-AD patients.", "output": {"entities": {"gene": [{"text": "FAD", "start": 47, "end": 50}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The novel anticholinesterase phenserine also provided \" proof of concept \" for our strategy to target the APP 5'-UTR sequence to identify \" anti-amyloid \" drugs.", "output": {"entities": {"gene": [{"text": "UTR", "start": 113, "end": 116}], "disease": [{"text": "amyloid", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The hypothesis underlying this study was that polymorphisms in the IRF5 gene contribute to inadequate control of inflammation in psoriasis.", "output": {"entities": {"gene": [{"text": "IRF5 gene", "start": 67, "end": 76}], "disease": [{"text": "inflammation", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "When first trimester hygroma colli is accompanied by specific findings of the lower limbs, the diagnosis of CD can be investigated through SOX9 mutation analysis.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 139, "end": 143}], "disease": [{"text": "CD", "start": 108, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 139, "end": 143}, "tail": {"text": "CD", "start": 108, "end": 110}}]}}, "schema": []}
{"input": "We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features.", "output": {"entities": {"gene": [{"text": "SMC1A", "start": 61, "end": 66}], "disease": [{"text": "WDSTS", "start": 143, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMC1A", "start": 61, "end": 66}, "tail": {"text": "WDSTS", "start": 143, "end": 148}}]}}, "schema": []}
{"input": "Epidemiological studies in humans have implicated carriage of combinations of genes encoding certain KIR3DL1 (killer Ig-like receptor 3DL1) alleles and their HLA-Bw4 ligands in slower progression to AIDS, lower viral load and protection from infection.", "output": {"entities": {"gene": [{"text": "KIR3DL1", "start": 101, "end": 108}], "disease": [{"text": "viral load", "start": 211, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "In this study, we explore the possible deregulation of OR and TASR gene expression in the dorsolateral prefrontal cortex in schizophrenia.", "output": {"entities": {"gene": [{"text": "TASR", "start": 62, "end": 66}], "disease": [{"text": "schizophrenia", "start": 124, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TASR", "start": 62, "end": 66}, "tail": {"text": "schizophrenia", "start": 124, "end": 137}}]}}, "schema": []}
{"input": "We have identified a new putative transcription factor from the rat kidney, termed Kid-1 (for kidney, ischemia and developmentally regulated gene 1).", "output": {"entities": {"gene": [{"text": "Kid-1", "start": 83, "end": 88}], "disease": [{"text": "ischemia", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "], insulin-like growth factor 2 mRNA binding protein 2 [IGF2BP2], potassium voltage-gated channel, KQT-like subfamily, member 1 [KCNQ1], paired box 4 [PAX4] and neuronal differentiation 1 [NEUROD1] transcription factors, ataxia telangiectasia mutated [ATM], and serine racemase [SRR]) that have recently been proposed as possible modulators of therapeutic response in subjects with T2DM.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 129, "end": 134}], "disease": [{"text": "telangiectasia", "start": 228, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "The JAK/STAT/SOC was significant for colon cancer survival (PARTP = 0. 035).", "output": {"entities": {"gene": [{"text": "SOC", "start": 13, "end": 16}], "disease": [{"text": "colon cancer", "start": 37, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.", "output": {"entities": {"gene": [{"text": "ABCG8", "start": 203, "end": 208}], "disease": [{"text": "sitosterolemia", "start": 249, "end": 263}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCG8", "start": 203, "end": 208}, "tail": {"text": "sitosterolemia", "start": 249, "end": 263}}]}}, "schema": []}
{"input": "Our results show that LDE FCR is increased in HBT, indicating that LDL clearance is increased in patients with beta-thalassemia trait possibly due to the increased proliferation in the bone marrow of erythroid precursors.", "output": {"entities": {"gene": [{"text": "LDE", "start": 22, "end": 25}], "disease": [{"text": "beta-thalassemia", "start": 111, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The increased frequency of activated lung CD4 (+) T cells with a T helper type 1 (Th1) cytokine profile in sarcoidosis patients is accompanied by a reduced proportion and/or impaired function of regulatory T cells (Tregs).", "output": {"entities": {"gene": [{"text": "CD4", "start": 42, "end": 45}], "disease": [{"text": "sarcoidosis", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Northern analysis of Smad1 and Hox7 RNA in primary cervical tumor tissues and cervical carcinoma cell lines indicated that, in general, the mRNA levels of these genes were decreased in human cervical cancer.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 21, "end": 26}], "disease": [{"text": "cervical cancer", "start": 191, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "At postmortem, the motoneurons in the TGF-beta2-treated SOD1 mice exhibited a large hypertrophy of their nucleoli, nuclei, and axons.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 56, "end": 60}], "disease": [{"text": "hypertrophy", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Using a semiquantitative reverse transcriptase polymerase chain reaction (RT-PCR) technique, the numbers of copies (relative to the \" housekeeping \" gene beta-actin) of messenger ribonucleic acid (mRNA) encoding the eosinophil-active chemotactic cytokines, the factor regulated upon activation in normal T-cells expressed and secreted (RANTES) and monocyte chemotactic protein-3 (MCP-3), was measured in bronchial biopsies from atopic asthmatic patients (n = 9), and compared with atopic nonasthmatic (n = 8) and nonatopic nonasthmatic (n = 8) control subjects.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 336, "end": 342}], "disease": [{"text": "atopic", "start": 428, "end": 434}]}, "relations": {}}, "schema": []}
{"input": "In the last few years, genetic and functional studies have provided important insight on the pathophysiology of excessive erythrocytosis (EE), the main sign of Chronic Mountain Sickness (CMS).", "output": {"entities": {"gene": [{"text": "CMS", "start": 187, "end": 190}], "disease": [{"text": "erythrocytosis", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.", "output": {"entities": {"gene": [{"text": "HRH1", "start": 276, "end": 280}], "disease": [{"text": "regression", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report that differences between T-cell receptor (TCR) V beta gene family usage in CD4 + and CD8 + T cells are significantly greater in a subgroup of patients with common variable immunodeficiency (CVI) and high levels of activated CD8 + T cells (CD8hi CVI) than in controls (P < 0. 001).", "output": {"entities": {"gene": [{"text": "CD4", "start": 100, "end": 103}], "disease": [{"text": "common variable immunodeficiency", "start": 181, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "ICOS-deficient mice fail to undergo immunoglobulin-class switch recombination (CSR) and germinal center formation, suggesting that ICOS could be a candidate gene for phenotypic hyper-IgM (HIGM) syndromes characterized by recurrent infections, low serum IgG and IgA, and normal or elevated IgM.", "output": {"entities": {"gene": [{"text": "ICOS", "start": 0, "end": 4}], "disease": [{"text": "recurrent infections", "start": 221, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.", "output": {"entities": {"gene": [{"text": "SAP/SH2D1A", "start": 81, "end": 91}], "disease": [{"text": "X-linked lymphoproliferative syndrome", "start": 30, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAP/SH2D1A", "start": 81, "end": 91}, "tail": {"text": "X-linked lymphoproliferative syndrome", "start": 30, "end": 67}}]}}, "schema": []}
{"input": "This study was performed to investigate BGP expression in non-small-cell lung carcinoma (NSCLC).", "output": {"entities": {"gene": [{"text": "BGP", "start": 40, "end": 43}], "disease": [{"text": "non-small-cell lung carcinoma", "start": 58, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Significant clinical correlates of MCP-1 levels were age, cigarette smoking, triglycerides, body mass index, and waist-to-hip ratio.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 35, "end": 40}], "disease": [{"text": "body mass index", "start": 92, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the expression of the high-affinity concentrative nucleoside transporter hCNT1 has a prognostic value in determining disease-free survival and risk of relapse in breast cancer patients undergoing surgery followed by cyclophosphamide-methotrexate-5-fluorouracil chemotherapy.", "output": {"entities": {"gene": [{"text": "hCNT1", "start": 101, "end": 106}], "disease": [{"text": "breast cancer", "start": 190, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hCNT1", "start": 101, "end": 106}, "tail": {"text": "breast cancer", "start": 190, "end": 203}}]}}, "schema": []}
{"input": "At either 1. 5 or 3 months following radiation, bladders were analyzed for collagen deposition using Masson' s Trichrome staining of collagen and muscle and vascularization using Von Willebrand factor staining of ECs.", "output": {"entities": {"gene": [{"text": "Von Willebrand factor", "start": 179, "end": 200}], "disease": [{"text": "vascularization", "start": 157, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Among the gene polymorphisms tested in the study, association of gene polymorphisms with increasing risk of ischemic stroke was confirmed in 6 polymorphisms including angiotensin-converting enzyme insertion/deletion (ACE I/D; OR = 1. 87, 95% CI = 1. 45-2. 42), methylenetetrahydrofolate reductase (MTHFR) C677T (OR = 1. 55, 95% CI = 1. 26-1. 90), plasminogen activator inhibitor 1 (PAI-1) 4G/5G (OR = 1. 79, 95% CI = 1. 20-2. 67), beta-fibrinogen (beta-Fg)-455A/G (OR = 1. 48, 95% CI = 1. 14-1. 92), beta-Fg-148T/C (OR = 1. 72, 95% CI = 1. 42-2. 07), apolipoprotein E (ApoE) epsilon2-4 (OR = 2. 39, 95% CI = 1. 94-2. 95).", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 551, "end": 567}], "disease": [{"text": "fibrinogen", "start": 436, "end": 446}]}, "relations": {}}, "schema": []}
{"input": "The associations of methylation intensity and of smoking with all-cause, cardiovascular, cancer and other mortality were assessed by Cox' s proportional hazards regression, controlling for potential confounding factors.", "output": {"entities": {"gene": [{"text": "Cox' s", "start": 133, "end": 139}], "disease": [{"text": "smoking", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The relationship between the CAV-1 as well as Ki67 expression and the clinicopathological characteristics of 68 lung adenocarcinoma patients was also examined using immunohistochemistry.", "output": {"entities": {"gene": [{"text": "CAV", "start": 29, "end": 32}], "disease": [{"text": "lung adenocarcinoma", "start": 112, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate whether PPARG gene variations are associated with weight reduction and changes in coronary heart disease (CHD) risk factors in response to a 14-week calorie restriction.", "output": {"entities": {"gene": [{"text": "PPARG gene", "start": 49, "end": 59}], "disease": [{"text": "weight reduction", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Amyloid precursor-like protein 2 suppresses irradiation-induced apoptosis in Ewing sarcoma cells and is elevated in immune-evasive Ewing sarcoma cells.", "output": {"entities": {"gene": [{"text": "Amyloid precursor-like protein 2", "start": 0, "end": 32}], "disease": [{"text": "sarcoma", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Stratified analysis and regression analysis demonstrated that race, pack-years of smoking, family history of breast cancer, and CYP1B1 genotype were significant predictors of the level of benzo (a) pyrene-induced adducts in the breast tissues.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 128, "end": 134}], "disease": [{"text": "smoking", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In contrast, all of C4BQ0 SLE patients showed 5 or 6 ACR criteria including hematological disorder, malar rash, oral ulcers, renal disorder, immunological disorder and anti-nuclear antibody.", "output": {"entities": {"gene": [{"text": "ACR", "start": 53, "end": 56}], "disease": [{"text": "malar rash", "start": 100, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "EMSA and inhibitor studies show that HOSCN up-regulation of these adhesion molecules is transcriptionally mediated through a mechanism that is dependent upon activation of the NF-kappaB p65/p50 transcription factor and constitutively suppressed by PI3K-Akt pathway activity.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 176, "end": 185}], "disease": [{"text": "adhesion", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that variation in GRM8 may be involved in modulating event-related theta oscillations during information processing and also in vulnerability to alcoholism.", "output": {"entities": {"gene": [{"text": "GRM8", "start": 38, "end": 42}], "disease": [{"text": "alcoholism", "start": 165, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRM8", "start": 38, "end": 42}, "tail": {"text": "alcoholism", "start": 165, "end": 175}}]}}, "schema": []}
{"input": "The XFC group was also much better than the TPT group in improving pulmonary function, FoxP3 mRNA, IFN-gamma, IL-4, Th1/Th2, and IL-10 (P < 0. 05 or P < 0. 01).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 110, "end": 114}], "disease": [{"text": "pulmonary function", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In addition, each cell line, exhibited one or more individual translocation chromosomes, which suggested that MET-1 was a precursor of MET-4, whereas MET-2 and MET-3 developed in parallel.", "output": {"entities": {"gene": [{"text": "MET", "start": 110, "end": 113}], "disease": [{"text": "translocation", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Recent interest in poly (ADP-ribosyl) polymerase (PARP) proteins which are key components of base excision repair, has led to the development of PARP inhibitors; tumors arising in BRCA1/2 mutation carriers and/or with HR deficiency (HRD) are particularly sensitive to the action of these drugs.", "output": {"entities": {"gene": [{"text": "ADP", "start": 25, "end": 28}], "disease": [{"text": "tumors", "start": 162, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that IL-10 limits the inflammatory hyperalgesia evoked by carrageenin and bradykinin by two mechanisms: inhibition of cytokine production and inhibition of IL-1 beta evoked PGE2 production.", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 175, "end": 184}], "disease": [{"text": "hyperalgesia", "start": 54, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 175, "end": 184}, "tail": {"text": "hyperalgesia", "start": 54, "end": 66}}]}}, "schema": []}
{"input": "Serum-soluble transferrin receptor concentrations in Helicobacter pylori-associated iron-deficiency anemia.", "output": {"entities": {"gene": [{"text": "transferrin receptor", "start": 14, "end": 34}], "disease": [{"text": "iron-deficiency anemia", "start": 84, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transferrin receptor", "start": 14, "end": 34}, "tail": {"text": "iron-deficiency anemia", "start": 84, "end": 106}}]}}, "schema": []}
{"input": "To improve cytologic diagnostic accuracy for translocation-associated sarcomas, we explored dual-color break-apart (dc) chromogenic in situ hybridization (CISH) on liquid-based cytology (LBC) samples of 2 prototypic sarcomas: synovial sarcoma (SS) and Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET).", "output": {"entities": {"gene": [{"text": "CISH", "start": 155, "end": 159}], "disease": [{"text": "synovial sarcoma", "start": 226, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "In rare cases, gene-trap homozygotes survive to postnatal stages and phenocopy both JATD and SRP type III by exhibiting growth retardation, shortening of the long bones, constriction of the ribcage and polydactyly.", "output": {"entities": {"gene": [{"text": "SRP", "start": 93, "end": 96}], "disease": [{"text": "constriction", "start": 170, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "This study analyzes the relationship between risk factors related to overweight/obesity, insulin resistance, lipid tolerance, hypertension, endothelial function and genetic polymorphisms associated with: i) appetite regulation (leptin, melanocortin-3-receptor (MCR-3), dopamine receptor 2 (D2R)); ii) adipocyte differentiation and insulin sensitivity (peroxisome proliferator-activated receptor-gamma2 (PPAR-gamma2), tumor necrosis factor-alpha (TNF-alpha)); iii) thermogenesis and free fatty acid (FFA) transport/catabolism (uncoupling protein-1 (UCP1), lipoprotein lipase (LPL), beta2-and beta3-adrenergic receptor (beta2AR, beta3AR), fatty acid transport protein-1 (FATP-1) and iv) lipoproteins (apoliprotein E (apoE), apo CIII).", "output": {"entities": {"gene": [{"text": "UCP1", "start": 548, "end": 552}], "disease": [{"text": "insulin sensitivity", "start": 331, "end": 350}]}, "relations": {}}, "schema": []}
{"input": "Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC.", "output": {"entities": {"gene": [{"text": "DKC1", "start": 79, "end": 83}], "disease": [{"text": "DC", "start": 133, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DKC1", "start": 79, "end": 83}, "tail": {"text": "DC", "start": 133, "end": 135}}]}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "DPYSL2", "start": 134, "end": 140}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPYSL2", "start": 134, "end": 140}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "L-ficolin concentrations were generally lower in patients with asthma and/or allergic rhinitis with (mean 3413 ng/ml; p = 0. 02) or without (3512 ng/ml; p < 0. 07) respiratory infections, but not in patients with respiratory infections without allergic disease (3623 ng/ml; p = 0. 2).", "output": {"entities": {"gene": [{"text": "L-ficolin", "start": 0, "end": 9}], "disease": [{"text": "asthma", "start": 63, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "To investigate dynamic changes in the expression of HCN2, HCN4, as well as KCNE1, and KCNE2 mRNA and protein levels in ventricular cells from acute myocardial infarction (AMI) rat hearts.", "output": {"entities": {"gene": [{"text": "KCNE2", "start": 86, "end": 91}], "disease": [{"text": "acute myocardial infarction", "start": 142, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Cooperation of MLL/AF10 (OM-LZ) with KRASG12C increased cell adhesion via upregulation of an adhesion G-protein-coupled receptor Gpr125.", "output": {"entities": {"gene": [{"text": "AF10", "start": 19, "end": 23}], "disease": [{"text": "adhesion", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we showed that the myristoylation site and DeltaSD domain played important roles in Nef-mediated inhibition of transwell and transendothelial migration and polarization of T lymphocytes; however, different sites or domains were needed for Nef-mediated LFA-1 down-modulation and impaired adhesion of T lymphocyte.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 265, "end": 270}], "disease": [{"text": "adhesion", "start": 300, "end": 308}]}, "relations": {}}, "schema": []}
{"input": "We also find that unilateral 6-OHDA-lesioned RGS9-/-mice are more susceptible to L-dopa-induced involuntary movements than unilateral 6-OHDA-lesioned RGS9 +/+ mice, albeit the rotational behavior--taken as an index of the anti-parkinsonian response--is similar between the two groups of mice.", "output": {"entities": {"gene": [{"text": "RGS9", "start": 45, "end": 49}], "disease": [{"text": "involuntary movements", "start": 96, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in serous carcinoma samples taken from ovarian cancer patients who responded well to chemotherapy, strong ALK7 staining and low miR-376c expression was detected.", "output": {"entities": {"gene": [{"text": "miR-376c", "start": 138, "end": 146}], "disease": [{"text": "ovarian cancer", "start": 49, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-376c", "start": 138, "end": 146}, "tail": {"text": "ovarian cancer", "start": 49, "end": 63}}]}}, "schema": []}
{"input": "At the cellular level, ATM mutant tumors exhibited a deficient ATM-dependent p53 response to gamma irradiation, failure to up-regulate TRAIL-R2, a downstream target that links irradiation-induced p53 response with apoptosis, and an inability to repair induced chromosome breaks.", "output": {"entities": {"gene": [{"text": "TRAIL-R2", "start": 135, "end": 143}], "disease": [{"text": "chromosome breaks", "start": 260, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Low-grade endometrioid carcinomas, however, are characterized by mutations in PTEN and CTNNB1, and microsatellite instability, and may arise from ovarian endometriosis or borderline endometrioid tumours.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 78, "end": 82}], "disease": [{"text": "ovarian endometriosis", "start": 146, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was not significantly different from that in the mild group of those with non-atopic asthma.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 35, "end": 39}], "disease": [{"text": "mild", "start": 121, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization showed a translocation involving the EWSR1 (Ewing sarcoma 1) gene region.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 72, "end": 77}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that Netrin G1 is not involved in atypical Rett syndrome or in unexplained encephalopathy with epilepsy, but in specific forms to be delineated better in the future.", "output": {"entities": {"gene": [{"text": "Netrin G1", "start": 24, "end": 33}], "disease": [{"text": "atypical Rett syndrome", "start": 53, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Netrin G1", "start": 24, "end": 33}, "tail": {"text": "atypical Rett syndrome", "start": 53, "end": 75}}]}}, "schema": []}
{"input": "Both doses of losartan significantly lowered blood pressure, albuminuria, and GFR (P < 0. 05 vs. baseline).", "output": {"entities": {"gene": [{"text": "GFR", "start": 78, "end": 81}], "disease": [{"text": "albuminuria", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.", "output": {"entities": {"gene": [{"text": "OPRK1", "start": 235, "end": 240}], "disease": [{"text": "nausea and vomiting", "start": 363, "end": 382}]}, "relations": {}}, "schema": []}
{"input": "Ferroportin disease represents a protean genetic condition in which the different SLC40A1 mutations appear to be responsible for phenotypic variability.", "output": {"entities": {"gene": [{"text": "SLC40A1", "start": 82, "end": 89}], "disease": [{"text": "Ferroportin disease", "start": 0, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC40A1", "start": 82, "end": 89}, "tail": {"text": "Ferroportin disease", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "Genomic analysis revealed that the fusion arose from translocation events involving introns 3 or 8 of PTPRZ and intron 1 of MET.", "output": {"entities": {"gene": [{"text": "MET", "start": 124, "end": 127}], "disease": [{"text": "translocation", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Forty-three percent (13 of 30) of the gamma delta T cell clones isolated from PB and CSF of MS patients responded to heat shock protein (HSP70) but not HSP65, whereas only 2 of 30 control gamma delta T cell clones reacted to the HSP.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 137, "end": 142}], "disease": [{"text": "shock", "start": 122, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Somatic TP53 mutations in stroma, but not epithelium, of sporadic breast cancers were associated with regional nodal metastases (P = 0. 003).", "output": {"entities": {"gene": [{"text": "TP53", "start": 8, "end": 12}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We examined the relationship between a cough and ACE gene polymorphism, plasma bradykinin (BK), substance P (SP) and ACE inhibitor concentrations in patients with hypertension or chronic nephritis.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 49, "end": 57}], "disease": [{"text": "chronic nephritis", "start": 179, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "SCARA3 levels in effusions and primary carcinomas were unrelated to patient age, tumor grade, FIGO stage, residual tumor volume after surgery, response to chemotherapy, or survival (P >. 05 for all).", "output": {"entities": {"gene": [{"text": "SCARA3", "start": 0, "end": 6}], "disease": [{"text": "residual tumor", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Cholinesterase activities were measured in plasma (ChE) and in intact erythrocytes (AChE) in patients suffering from manic-depressive illness, their first degree relatives who were well, and unrelated normal volunteers.", "output": {"entities": {"gene": [{"text": "Cholinesterase", "start": 0, "end": 14}], "disease": [{"text": "manic-depressive illness", "start": 117, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cholinesterase", "start": 0, "end": 14}, "tail": {"text": "manic-depressive illness", "start": 117, "end": 141}}]}}, "schema": []}
{"input": "PD subjects homozygous for the common V81M polymorphism, have higher overall freezing of gait scores after controlling for disease duration, although this polymorphism does not associate with the occurrence of PD or FOG.", "output": {"entities": {"gene": [{"text": "FOG", "start": 216, "end": 219}], "disease": [{"text": "freezing of gait", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients.", "output": {"entities": {"gene": [{"text": "CYP2A6", "start": 0, "end": 6}], "disease": [{"text": "gastric cancer", "start": 91, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2A6", "start": 0, "end": 6}, "tail": {"text": "gastric cancer", "start": 91, "end": 105}}]}}, "schema": []}
{"input": "We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a new identified mutation in the KIAA0226 gene (c. 2624delC; p. Ala875ValfsX146) coding for Rubicon.", "output": {"entities": {"gene": [{"text": "KIAA0226", "start": 188, "end": 196}], "disease": [{"text": "Salih ataxia", "start": 56, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIAA0226", "start": 188, "end": 196}, "tail": {"text": "Salih ataxia", "start": 56, "end": 68}}]}}, "schema": []}
{"input": "Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs.", "output": {"entities": {"gene": [{"text": "Smoc1", "start": 0, "end": 5}], "disease": [{"text": "MLA", "start": 30, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Smoc1", "start": 0, "end": 5}, "tail": {"text": "MLA", "start": 30, "end": 33}}]}}, "schema": []}
{"input": "Moreover, we detected HA-1 promoter hypermethylation in primary cancers.", "output": {"entities": {"gene": [{"text": "HA-1", "start": 22, "end": 26}], "disease": [{"text": "cancers", "start": 64, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HA-1", "start": 22, "end": 26}, "tail": {"text": "cancers", "start": 64, "end": 71}}]}}, "schema": []}
{"input": "HPS-associated genes participate in at least 4 distinct protein complexes: the adaptor complex AP-3; biogenesis of lysosome-related organelles complex 1 (BLOC-1), consisting of 4 HPS proteins (pallidin, muted, cappuccino, HPS7/sandy); BLOC-2, consisting of HPS6/ruby-eye, HPS5/ruby-eye-2, and HPS3/cocoa; and BLOC-3, consisting of HPS1/pale ear and HPS4/light ear.", "output": {"entities": {"gene": [{"text": "HPS7", "start": 222, "end": 226}], "disease": [{"text": "pale", "start": 336, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "The data provide evidence for a role of PTPRZ1, and for RPTPbeta signaling abnormalities, in the etiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "PTPRZ1", "start": 40, "end": 46}], "disease": [{"text": "schizophrenia", "start": 109, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTPRZ1", "start": 40, "end": 46}, "tail": {"text": "schizophrenia", "start": 109, "end": 122}}]}}, "schema": []}
{"input": "We report the molecular genetic investigations of a patient with chronic progressive external ophthalmoplegia (CPEO) and myopathy where muscle biopsies taken 11 years apart revealed a progressive increase in the proportion of cytochrome c oxidase (COX)-deficient fibres.", "output": {"entities": {"gene": [{"text": "COX", "start": 248, "end": 251}], "disease": [{"text": "chronic progressive external ophthalmoplegia", "start": 65, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i. e., Italy), and establish whether there is one or more common mutation.", "output": {"entities": {"gene": [{"text": "SPG11", "start": 151, "end": 156}], "disease": [{"text": "SPG11", "start": 187, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG11", "start": 151, "end": 156}, "tail": {"text": "SPG11", "start": 187, "end": 192}}]}}, "schema": []}
{"input": "We studied mutations in the GALNS gene from 23 additional MPS IVA patients (15 from Australia, 8 from Northern Ireland), with various clinical phenotypes (severe, 16 cases; intermediate, 4 cases; mild, 3 cases).", "output": {"entities": {"gene": [{"text": "GALNS", "start": 28, "end": 33}], "disease": [{"text": "MPS IVA", "start": 58, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALNS", "start": 28, "end": 33}, "tail": {"text": "MPS IVA", "start": 58, "end": 65}}]}}, "schema": []}
{"input": "In this study, we report the first characterization of the PINK1 protein in normal human and sporadic Parkinson' s brains, in addition to Parkinson' s cases with heterozygous PINK1 mutations.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 59, "end": 64}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In this region several candidate genes for atopy are localized such as the Th2 cytokines IL-4, IL-5 and IL-13, but also CD14, a receptor for LPS.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 104, "end": 109}], "disease": [{"text": "atopy", "start": 43, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.", "output": {"entities": {"gene": [{"text": "AKAP13", "start": 35, "end": 41}], "disease": [{"text": "prostate cancer", "start": 147, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKAP13", "start": 35, "end": 41}, "tail": {"text": "prostate cancer", "start": 147, "end": 162}}]}}, "schema": []}
{"input": "SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 0, "end": 5}], "disease": [{"text": "paroxysmal extreme pain disorder", "start": 19, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN9A", "start": 0, "end": 5}, "tail": {"text": "paroxysmal extreme pain disorder", "start": 19, "end": 51}}]}}, "schema": []}
{"input": "Immunohistochemistry was used to analyse expression of key HR pathway proteins (ATM, ATR, BRCA1, MDC1, MRE11) and PARP-1 in 100 serous ovarian cancer (SOC) and 100 triple-negative breast cancer (TNBC) tumour samples from Japanese patients.", "output": {"entities": {"gene": [{"text": "MDC1", "start": 97, "end": 101}], "disease": [{"text": "triple-negative breast cancer", "start": 164, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "The EWS-WT1 t (11; 22) (p13; q12) translocation was demonstrated in all 4 tumors by fluorescence in situ hybridization and/or reverse transcription-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "However, at the peak of NV, TRAIL (-/-) mice had a significant increase in retinal neovascularization.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 28, "end": 33}], "disease": [{"text": "retinal neovascularization", "start": 75, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Recently, protein expression of IDE has been demonstrated in the epithelial ducts of normal breast and breast cancer tissue.", "output": {"entities": {"gene": [{"text": "IDE", "start": 32, "end": 35}], "disease": [{"text": "breast cancer", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The combined effects of IL-4 and IL-10 have been shown to shift the Th1/Th2 cell activation in favor of a Th2 immune response which seems to be essential for fighting against the inflammation and ultimative healing.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 24, "end": 28}], "disease": [{"text": "inflammation", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We present a case of erosive OLP, cutaneous lichen planus (CLP), and leukoplakia of the vocal cord in a man with chronic hepatitis C infection treated with IFN and ribavirin.", "output": {"entities": {"gene": [{"text": "IFN", "start": 156, "end": 159}], "disease": [{"text": "leukoplakia", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.", "output": {"entities": {"gene": [{"text": "ATP13A2", "start": 94, "end": 101}], "disease": [{"text": "complicated hereditary spastic paraplegia", "start": 15, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP13A2", "start": 94, "end": 101}, "tail": {"text": "complicated hereditary spastic paraplegia", "start": 15, "end": 56}}]}}, "schema": []}
{"input": "Our patient has a FLNA missense mutation (c. 220G > A) and presented with cerebral periventricular nodular heterotopia, cardiovascular abnormalities, and pulmonary disease consisting of lobar emphysema of the right middle pulmonary lobe with severe malacia of the right sided bronchus intermedius.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 18, "end": 22}], "disease": [{"text": "cardiovascular abnormalities", "start": 120, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "During these period, mean blood pressure, Kt/V urea, and serum beta2-microglobulin were not changed between the two groups.", "output": {"entities": {"gene": [{"text": "beta2", "start": 63, "end": 68}], "disease": [{"text": "mean blood pressure", "start": 21, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Upon differentiation of HGPS-iPSCs, progerin and its ageing-associated phenotypic consequences are restored.", "output": {"entities": {"gene": [{"text": "progerin", "start": 36, "end": 44}], "disease": [{"text": "ageing", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We found 33 MLC1 sequence variations, including three novel mutations: Val210Ile, Leu308Gln, and Arg328His in six BPAD cases and Val210Ile in one control individual.", "output": {"entities": {"gene": [{"text": "MLC1", "start": 12, "end": 16}], "disease": [{"text": "BPAD", "start": 114, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLC1", "start": 12, "end": 16}, "tail": {"text": "BPAD", "start": 114, "end": 118}}]}}, "schema": []}
{"input": "The aim of the study was to define the relevance of deletions and duplications within the DAZ gene cluster to male factor infertility in a population of 90 infertile men and a control of 50 fertile men using real-time polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "DAZ", "start": 90, "end": 93}], "disease": [{"text": "infertile", "start": 156, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Identification of BRCA2 mutation carriers by sequencing all exons of BRCA2 in a German cohort of 382 familial PrCa cases and of 92 sporadic PrCa cases with early onset (≤ 60 years).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 18, "end": 23}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These findings are consistent with the observed uneven distribution of CFTR missense mutations between NBD1 and NBD2 of CF patients.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 71, "end": 75}], "disease": [{"text": "CF", "start": 71, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 71, "end": 75}, "tail": {"text": "CF", "start": 71, "end": 73}}]}}, "schema": []}
{"input": "Further studies should examine the effects of antidepressant treatments upon EAAT2 expression in rodent models of depression to further elucidate the underlying molecular mechanisms.", "output": {"entities": {"gene": [{"text": "EAAT2", "start": 77, "end": 82}], "disease": [{"text": "depression", "start": 114, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAT2", "start": 77, "end": 82}, "tail": {"text": "depression", "start": 114, "end": 124}}]}}, "schema": []}
{"input": "The CSF levels of CRH in patients with IS were lower, although, this trend was not significant.", "output": {"entities": {"gene": [{"text": "CRH", "start": 18, "end": 21}], "disease": [{"text": "IS", "start": 39, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH", "start": 18, "end": 21}, "tail": {"text": "IS", "start": 39, "end": 41}}]}}, "schema": []}
{"input": "Only 2 of 126 (1. 6%) oropharyngeal cancer patients were found to be p16 +/EGFR FISH +.", "output": {"entities": {"gene": [{"text": "FISH", "start": 80, "end": 84}], "disease": [{"text": "oropharyngeal cancer", "start": 22, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Deletion and point mutation analyses of the IL-8 promoter revealed that both AP-1 and NF-kappaB binding sites were necessary for IL-8 induction by hypoxia.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 77, "end": 81}], "disease": [{"text": "hypoxia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Three novel RUNX1 translocation partner genes on 1q21. 2 (ZNF687), 1p35 (YTHDF2), and 4q31. 3 (SH3D19) were identified using a panhandle polymerase chain reaction and the 3' rapid amplification of cDNA ends method.", "output": {"entities": {"gene": [{"text": "ZNF687", "start": 58, "end": 64}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Presence of the XRCC1 399Gln allele was associated with a significantly decreased risk for lung cancer among non-smoking women (odds ratio (OR) 0. 4, 95% confidence interval (CI) 0. 2-0. 9).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 16, "end": 21}], "disease": [{"text": "smoking", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Nonetheless, WT MEF were more sensitive to TNF & #945;-induced death which was attributed to necrosis.", "output": {"entities": {"gene": [{"text": "TNF", "start": 43, "end": 46}], "disease": [{"text": "necrosis", "start": 93, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 43, "end": 46}, "tail": {"text": "necrosis", "start": 93, "end": 101}}]}}, "schema": []}
{"input": "Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 56, "end": 60}], "disease": [{"text": "alopecia", "start": 129, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RHOA", "start": 56, "end": 60}, "tail": {"text": "alopecia", "start": 129, "end": 137}}]}}, "schema": []}
{"input": "Thus, the hypoxic response of DT-diaphorase expression is mediated in part through AP-1, initially by a jun-related mechanism and then by the involvement of fos.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 83, "end": 87}], "disease": [{"text": "hypoxic", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The rhoA and rhoC were higher in ESCC cell lines than in noncancerous esophageal cell.", "output": {"entities": {"gene": [{"text": "rhoC", "start": 13, "end": 17}], "disease": [{"text": "esophageal", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "As CD4 (+) T-cell activation may be mediated by microbial translocation or interferon-alpha (IFN-α), we examined these factors in HIV patients with good or poor CD4 (+) T-cell recovery on long-term ART.", "output": {"entities": {"gene": [{"text": "ART", "start": 198, "end": 201}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We observed a significant positive correlation between layers II and IV of the dorso-lateral prefrontal cortex (DLPFC) in the percentage of MR-GEF expressing neurons in individuals with bipolar disorder, but not in individuals with schizophrenia, major depressive disorder or in controls.", "output": {"entities": {"gene": [{"text": "MR-GEF", "start": 140, "end": 146}], "disease": [{"text": "bipolar disorder", "start": 186, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MR-GEF", "start": 140, "end": 146}, "tail": {"text": "bipolar disorder", "start": 186, "end": 202}}]}}, "schema": []}
{"input": "Wip1 expression and its effects were examined in primary non-small cell lung cancer (NSCLC) and colon tumor cells by using Wip1-specific siRNA.", "output": {"entities": {"gene": [{"text": "Wip1", "start": 0, "end": 4}], "disease": [{"text": "colon tumor", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In addition, some studies indicated that PCDGF participated in invasion, metastasis and survival of cancer cells by regulating cell migration, adhesion and proliferation.", "output": {"entities": {"gene": [{"text": "PCDGF", "start": 41, "end": 46}], "disease": [{"text": "adhesion", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In addition, cell cycle, proliferation, adhesion and invasion were analyzed in the DJ-1 knockdown of HepG2 cells.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 83, "end": 87}], "disease": [{"text": "adhesion", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.", "output": {"entities": {"gene": [{"text": "SEC24C", "start": 102, "end": 108}], "disease": [{"text": "major depression", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEC24C", "start": 102, "end": 108}, "tail": {"text": "major depression", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "This study aims to investigate whether the Akt/mammalian target of rapamycin (mTOR) pathway, and particularly which Akt isoform, contributes to the development and progression of pulmonary vascular remodeling in hypoxia-induced pulmonary hypertension (HPH).", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 47, "end": 76}], "disease": [{"text": "hypoxia", "start": 212, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Three-point linkage suggests that the gene for HNPP is located on chromosome 17 in the region between D17S250 (q11. 2-q12) and D17S520 (p12), a region that has recently been shown to encompass a locus for another hereditary neuropathy, hereditary motor and sensory neuropathy type 1 (HMSN type 1).", "output": {"entities": {"gene": [{"text": "p12", "start": 136, "end": 139}], "disease": [{"text": "hereditary motor and sensory neuropathy", "start": 236, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Several further manifestations are associated with B19 infections, such as arthralgias, arthritis, leucopenia and thrombocytopenia, anaemia and vasculitis and spontaneous abortion and hydrops fetalis in pregnant women.", "output": {"entities": {"gene": [{"text": "B19", "start": 51, "end": 54}], "disease": [{"text": "thrombocytopenia", "start": 114, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In the present communication expression profiles of genes in the liver from wild-type Long-Evans agouti (LEA) and LEC rats at different stages of copper accumulation and liver disease were investigated.", "output": {"entities": {"gene": [{"text": "LEC", "start": 114, "end": 117}], "disease": [{"text": "liver disease", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of an NUP98 translocation in lymphocytic leukemia and the first time that RAP1GDS1 has been implicated in any human malignancy.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 31, "end": 36}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Further, overexpression of nuclear-localized p44 stimulates proliferation and invasion in ovarian cancer cells in the presence of estrogen or androgen.", "output": {"entities": {"gene": [{"text": "p44", "start": 45, "end": 48}], "disease": [{"text": "ovarian cancer", "start": 90, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p44", "start": 45, "end": 48}, "tail": {"text": "ovarian cancer", "start": 90, "end": 104}}]}}, "schema": []}
{"input": "Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.", "output": {"entities": {"gene": [{"text": "uroporphyrinogen III synthase", "start": 28, "end": 57}], "disease": [{"text": "congenital erythropoietic porphyria", "start": 70, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "uroporphyrinogen III synthase", "start": 28, "end": 57}, "tail": {"text": "congenital erythropoietic porphyria", "start": 70, "end": 105}}]}}, "schema": []}
{"input": "We investigated whether GIP affects inflammation, lipolysis, and insulin resistance in human adipocytes.", "output": {"entities": {"gene": [{"text": "GIP", "start": 24, "end": 27}], "disease": [{"text": "insulin resistance", "start": 65, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Hepcidin liver expression is inappropriately low in alcoholic patients with active alcoholism and preserved hepatic function, and we conclude that this is the mechanism for alcohol consumption-associated iron overload in humans.", "output": {"entities": {"gene": [{"text": "Hepcidin", "start": 0, "end": 8}], "disease": [{"text": "alcoholism", "start": 83, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hepcidin", "start": 0, "end": 8}, "tail": {"text": "alcoholism", "start": 83, "end": 93}}]}}, "schema": []}
{"input": "Due to its antitumoral capacity on EGFR/c-erbB-2-positive breast cancer cells, we conclude from our results that the protein-based PLC-gamma1 inhibitor PS2-TAT may be a means for novel adjuvant antitumour strategies to minimise metastasis formation because of the blockade of cell migration and proliferation.", "output": {"entities": {"gene": [{"text": "PS2", "start": 152, "end": 155}], "disease": [{"text": "metastasis", "start": 228, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families.", "output": {"entities": {"gene": [{"text": "matrix Gla protein", "start": 17, "end": 35}], "disease": [{"text": "KS", "start": 96, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "matrix Gla protein", "start": 17, "end": 35}, "tail": {"text": "KS", "start": 96, "end": 98}}]}}, "schema": []}
{"input": "The effects of BMP2 or adenovirus-mediated transfection of smad1 on cardiomyocyte survival in hypoxia-reoxygenation were examined using rat neonatal cardiomyocytes.", "output": {"entities": {"gene": [{"text": "BMP2", "start": 15, "end": 19}], "disease": [{"text": "adenovirus", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Many genetic variations have been identified in the human µ-opioid receptor MOP gene (OPRM1), and their implications have been reported in the effects of opioid drugs and susceptibility to drug dependence.", "output": {"entities": {"gene": [{"text": "MOP", "start": 76, "end": 79}], "disease": [{"text": "drug dependence", "start": 189, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "On follow-up available for 17 patients (mean, 22. 4 months), 16 PAX8/PPARγ-positive cancers showed no evidence of biochemical or structural recurrence, whereas 1 patient with FTC developed bone metastasis.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 64, "end": 68}], "disease": [{"text": "bone metastasis", "start": 189, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "A significantly increased incidence of migraine with aura (MWA), major depression, generalized anxiety disorder (GAD), panic attacks, and phobia was observed in individuals with the DRD2 NcoI C/C genotype compared with individuals with an DRD2 NcoI T allele.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 182, "end": 186}], "disease": [{"text": "phobia", "start": 138, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Studying patients from three unrelated pedigrees characterized by neutropenia, specific granule deficiency, myelodysplasia with excess of blast cells, and various developmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2.", "output": {"entities": {"gene": [{"text": "SMARCD2", "start": 251, "end": 258}], "disease": [{"text": "neutropenia", "start": 66, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMARCD2", "start": 251, "end": 258}, "tail": {"text": "neutropenia", "start": 66, "end": 77}}]}}, "schema": []}
{"input": "In contrast, PEDF-Tg animals with oxygen-induced retinopathy (OIR) developed significantly less severe retinal neovascularization compared with wild-type (Wt) mice with OIR.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 13, "end": 17}], "disease": [{"text": "retinal neovascularization", "start": 103, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V.", "output": {"entities": {"gene": [{"text": "glycyl tRNA synthetase", "start": 88, "end": 110}], "disease": [{"text": "dSMA-V", "start": 143, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glycyl tRNA synthetase", "start": 88, "end": 110}, "tail": {"text": "dSMA-V", "start": 143, "end": 149}}]}}, "schema": []}
{"input": "Calcitonin inhibits bone resorption via its receptor (CTR) on osteoclasts.", "output": {"entities": {"gene": [{"text": "CTR", "start": 54, "end": 57}], "disease": [{"text": "bone resorption", "start": 20, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "A milder course of asthma or the degree of allergic reaction after a food challenge was associated with higher FOXP3 mRNA expression.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 111, "end": 116}], "disease": [{"text": "allergic reaction", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "There was a strong correlation between presence of an NSD1 alteration and clinical phenotype, in that 28 of 37 (76%) patients in group 1 had NSD1 mutations or deletions, whereas none of the patients in group 4 had abnormalities of NSD1.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 54, "end": 58}], "disease": [{"text": "abnormalities", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The prolyl isomerase Pin1 regulates amyloid precursor protein processing and amyloid-beta production.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 21, "end": 25}], "disease": [{"text": "amyloid", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, tumor cells derived from NIH3T3 cells overexpressing Cdt1 displayed numerical and structural chromosomal aberrations in the form of ploidy, double minutes, translocation, inversion, chromosome end-to-end fusion and robertsonian mutation.", "output": {"entities": {"gene": [{"text": "Cdt1", "start": 66, "end": 70}], "disease": [{"text": "chromosomal aberrations", "start": 106, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "p66 (shc) messenger ribonucleic acid (mRNA) was compared with systemic oxidative stress and inflammation markers in control subjects and patients on HD before and after a single HD session in a cross-sectional analysis.", "output": {"entities": {"gene": [{"text": "p66", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Scutellarin inhibits cell migration by regulating production of αvβ6 integrin and E-cadherin in human tongue cancer cells.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 82, "end": 92}], "disease": [{"text": "tongue cancer", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Overall, the present study elucidated transcriptional changes of OvCar-3 and PC-3 cancer cell lines in response to OPNc overexpression, which provides an assessment for predicting the molecular mechanisms by which this splice variant promotes tumor progression features.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 77, "end": 81}], "disease": [{"text": "tumor progression", "start": 243, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "The expressions of MAGE-1, MAGE-3, GAGE1-6, GAGE1-2 and BAGE mRNA in 33 surgically resected HCC samples and 26 of their corresponding non-cancerous samples (11 liver cirrhosis and 15 chronic hepatitis) were studied by a reverse-transcription polymerase chain reaction, and were compared with clinicopathological parameters.", "output": {"entities": {"gene": [{"text": "HCC", "start": 92, "end": 95}], "disease": [{"text": "chronic hepatitis", "start": 183, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Human MLL5 is located on chromosome 7q22, which frequently is deleted in myeloid leukemias, suggesting a possible role in hemopoiesis.", "output": {"entities": {"gene": [{"text": "MLL5", "start": 6, "end": 10}], "disease": [{"text": "myeloid leukemias", "start": 73, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLL5", "start": 6, "end": 10}, "tail": {"text": "myeloid leukemias", "start": 73, "end": 90}}]}}, "schema": []}
{"input": "Mutations of K-RAS, TP53, and microsatellite instability were present in similar frequencies between the two breast cancer groups, and moreover, these were similar to mutational frequencies found in sporadic endometrial cancer.", "output": {"entities": {"gene": [{"text": "TP53", "start": 20, "end": 24}], "disease": [{"text": "sporadic", "start": 199, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The positive rate of CDK4, p27, and E2F-1 was significant between chondrosarcoma and osteochondroma of the jaws (P < 0. 05).", "output": {"entities": {"gene": [{"text": "p27", "start": 27, "end": 30}], "disease": [{"text": "osteochondroma", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Here we analyze the effect of SH2D1A protein missense mutations identified in 10 XLP families.", "output": {"entities": {"gene": [{"text": "SH2D1A", "start": 30, "end": 36}], "disease": [{"text": "XLP", "start": 81, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH2D1A", "start": 30, "end": 36}, "tail": {"text": "XLP", "start": 81, "end": 84}}]}}, "schema": []}
{"input": "SK1 positivity and high expression were associated with 5-year survival; the HR was 1. 86 (95% confidence interval [CI], 1. 18-2. 94) for breast cancer, 1. 58 (1. 08-2. 31) for gastric cancer, and 2. 68 (2. 10-3. 44) for other cancers; the total cancer HR was 2. 21 (95% CI, 1. 83-2. 67; P < 0. 00001).", "output": {"entities": {"gene": [{"text": "SK1", "start": 0, "end": 3}], "disease": [{"text": "gastric cancer", "start": 177, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "There was a co-presence of DNMT3a and DNMT3b expression and an association of DNMT1 expression with alcohol consumption and poor overall survival.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 78, "end": 83}], "disease": [{"text": "alcohol consumption", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "It is, therefore, critical to understand the molecular relationship of adjacent GP3 and GP4 tumor cell populations and relate molecular abnormalities to disease progression.", "output": {"entities": {"gene": [{"text": "GP4", "start": 88, "end": 91}], "disease": [{"text": "abnormalities", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Astrocytes and NG2 glia respond to CNS injury by the formation of a glial scar.", "output": {"entities": {"gene": [{"text": "NG2", "start": 15, "end": 18}], "disease": [{"text": "scar", "start": 74, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "DNA methylation of PTPN6, MOS, DCC, CRK, and VAV1 was evaluated in non-neoplastic gastric specimens using quantitative methylation-specific PCR in patients with GC (n = 207) and their age-and gender-matched controls (n = 207).", "output": {"entities": {"gene": [{"text": "CRK", "start": 36, "end": 39}], "disease": [{"text": "non-neoplastic", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In addition, the incidence of aneurysms was assessed in mice lacking monocyte chemotactic protein-1 (CCL2) and mice lacking matrix metalloproteinase-12 (macrophage elastase).", "output": {"entities": {"gene": [{"text": "macrophage elastase", "start": 153, "end": 172}], "disease": [{"text": "aneurysms", "start": 30, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The ChREBP expression may be reflective of an aerobic metabolic phenotype that may conflict with hypoxia-induced signalling but provide a mechanism for growth at the oxygenated edge of the tumours.", "output": {"entities": {"gene": [{"text": "ChREBP", "start": 4, "end": 10}], "disease": [{"text": "hypoxia", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In addition, there are inflammatory pseudotumors (IPT) that may arise in the course of autoimmune pancreatitis (AIP).", "output": {"entities": {"gene": [{"text": "IPT", "start": 50, "end": 53}], "disease": [{"text": "autoimmune pancreatitis", "start": 87, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The multi-omics profiling and tumour biomarkers could successfully distinguish the two multifocal HCC types, while accurately predicting clonality and aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 98, "end": 101}], "disease": [{"text": "aggressiveness", "start": 151, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to assess the impact of the genetic pattern (GP) defined by the single nucleotide polymorphisms (SNPs) rs14158 of low-density lipoprotein receptor (LDLR) and rs12979860 of interleukin-28B (IL28B) genes on the outcome and features of hepatitis C virus (HCV) infection in patients with and without human immunodeficiency virus (HIV) coinfection.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 174, "end": 178}], "disease": [{"text": "coinfection", "start": 357, "end": 368}]}, "relations": {}}, "schema": []}
{"input": "Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.", "output": {"entities": {"gene": [{"text": "SLC7A7", "start": 17, "end": 23}], "disease": [{"text": "lysinuric protein intolerance", "start": 77, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC7A7", "start": 17, "end": 23}, "tail": {"text": "lysinuric protein intolerance", "start": 77, "end": 106}}]}}, "schema": []}
{"input": "IL-4 by binding to its receptor (IL-4R) is essential for the development of airway inflammation present in asthma, through the induction of IgE synthesis in B cells and differentiation of T cells to a Th2 phenotype.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed three regulatory IL-4 polymorphisms;-590C > T,-34C > T and 70 bp intron-3 VNTR, in 4216 individuals; including: (1) 430 ethnically matched case-control groups (173 severe malaria, 101 mild malaria and 156 asymptomatic); (2) 3452 individuals from 76 linguistically and geographically distinct endogamous populations of India, and (3) 334 individuals with different ancestry from outside India (84 Brazilian, 104 Syrian, and 146 Vietnamese).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 34, "end": 38}], "disease": [{"text": "mild", "start": 201, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the involvement of MK in the development of tumors, we further examined its expression in a variety of human neoplastic cell lines: YMB-1-C (breast cancer), EBC-1 (lung squamous cell carcinoma), RERF-LC-OK (lung adenocarcinoma), SBC-3 (lung small cell carcinoma), HSC-2 (mouth squamous cell carcinoma), NUGC-2 (gastric cancer), COLO201 (colon cancer), HepG2 (hepatoma), MIA PaCa-2 (pancreatic cancer), MCAS (ovarian cancer), HeLa (cervical cancer), BeWo (chorionic carcinoma), ITO-II (testicular tumor), T24 (urinary bladder tumor), and G-401 (Wilms' tumor).", "output": {"entities": {"gene": [{"text": "MIA", "start": 383, "end": 386}], "disease": [{"text": "lung small cell carcinoma", "start": 249, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "We conclude that FDH consists of at least two subgroups: 1) FCHL with high apolipoprotein B, small LDL particles, and increased fasting plasma insulin levels, and 2) a less well-defined residual having upper central obesity with low HDL cholesterol and high triglyceride levels.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 75, "end": 91}], "disease": [{"text": "central obesity", "start": 208, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 241, "end": 245}], "disease": [{"text": "aniridia", "start": 7, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 241, "end": 245}, "tail": {"text": "aniridia", "start": 7, "end": 15}}]}}, "schema": []}
{"input": "Jackson-Weiss syndrome (MIM 123150) is another autosomal dominant craniosynostosis with highly variable phenotypic expression.", "output": {"entities": {"gene": [{"text": "MIM", "start": 24, "end": 27}], "disease": [{"text": "craniosynostosis", "start": 66, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Infusion of antiserum against salusin-β attenuated the induction of VCAM-1, monocyte chemoattractant protein (MCP)-1, and IL-1β and as well as nuclear translocation of NF-κB in aortic endothelial cells (ECs) of LDL receptor-deficient mice, which led to the prevention of monocyte adhesion to aortic ECs.", "output": {"entities": {"gene": [{"text": "salusin-β", "start": 30, "end": 39}], "disease": [{"text": "adhesion", "start": 280, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "TGFBIp increased both CCL21 expression in LECs, a chemokine that actively recruits tumor cells expressing the cognate chemokine receptors to lymphatic vessels and LEC permeability by inducing the dissociation of VE-cadherin junctions between LECs via the activation of SRC signaling.", "output": {"entities": {"gene": [{"text": "LEC", "start": 42, "end": 45}], "disease": [{"text": "dissociation", "start": 196, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "To better characterize and define the genomic differences between the three classes of familial tumors and sporadic malignancies, we have analyzed 19 BRCA1, 24 BRCA2, and 31 BRCAX samples from familial breast cancer patients and 19 sporadic breast tumors using a 1-Mb resolution bacterial artificial chromosome array-based comparative genomic hybridization.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 160, "end": 165}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The promoters for 640 genes were found to be bound by β-catenin, many of which are known schizophrenia (SZ), autism spectrum disorder (ASD), and BD candidates, including CACNA1B, NRNG, SNAP29, FGFR1, PCDH9, and nine others identified in recently published GWASs and genome-wide searches for copy number variants (CNVs).", "output": {"entities": {"gene": [{"text": "SNAP29", "start": 185, "end": 191}], "disease": [{"text": "autism spectrum disorder", "start": 109, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In varicocele group, seminiferous tubule' s bore was decreased (101 +/-2. 2) vs 146 +/-4. 1), limitan became thicker (3. 5 +/-0. 1 vs 1. 9 +/-0. 2), cell' s layer number was reduced (3. 0 +/-0. 2 vs 5. 5 +/-0. 1), cell' s maturity turned to disturbance (3. 6 +/-0. 3 vs 4. 9 +/-0. 1), the average score was lower than controlled group (8. 5 +/-0. 6 vs 16. 0 +/-1. 2), they had significant differences (P < 0. 001).", "output": {"entities": {"gene": [{"text": "cell' s", "start": 214, "end": 221}], "disease": [{"text": "varicocele", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of 29 SNPs (P < 1 × 10 (-5)) in an additional 971 severely obese children and 1, 990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST).", "output": {"entities": {"gene": [{"text": "RMST", "start": 182, "end": 186}], "disease": [{"text": "severe obesity", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We compared the proteomes of paired primary and recurrent post-chemotherapy ovarian high-grade serous carcinomas from nine ovarian cancer patients using CIEF/Nano-RPLC coupled with ESI-Tandem MS. As compared to their primary tumors, more than half of the recurrent tumors expressed higher levels of several proteins including CP, FN1, SYK, CD97, AIF1, WNK1, SERPINA3, APOD, URP2, STAT5B and RELA (NF-kappaB p65), which were also validated by quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "AIF1", "start": 346, "end": 350}], "disease": [{"text": "carcinomas", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Screening for the presence CDKN1C and TP53 mutations and analyzing the expression pattern of CDNC, P53 and its downstream effector CDN1 (P21WAF1/CIP1) in a series of 79 sporadic adrenal tumors.", "output": {"entities": {"gene": [{"text": "P53", "start": 39, "end": 42}], "disease": [{"text": "sporadic", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.", "output": {"entities": {"gene": [{"text": "HOMER1", "start": 87, "end": 93}], "disease": [{"text": "depression", "start": 132, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOMER1", "start": 87, "end": 93}, "tail": {"text": "depression", "start": 132, "end": 142}}]}}, "schema": []}
{"input": "PCOS participants were younger, with higher age-adjusted BMI, waist circumference, blood pressure, triglycerides, insulin, homeostasis model assessment index to estimate insulin resistance and total testosterone, and lower HDL-C and sex hormone binding globulin vs controls.", "output": {"entities": {"gene": [{"text": "sex hormone binding globulin", "start": 233, "end": 261}], "disease": [{"text": "insulin resistance", "start": 170, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Using Western blot and RT-PCR analyses we demonstrated striking evidence that the expression of HIF-1alpha, ETS-1, MMP-7 and MT1-MMP was strongly upregulated by hypoxic stimulation.", "output": {"entities": {"gene": [{"text": "ETS-1", "start": 108, "end": 113}], "disease": [{"text": "hypoxic", "start": 161, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "They also showed elevated alkaline phosphatase and PTH, as well as decreased phosphate and calcium.", "output": {"entities": {"gene": [{"text": "PTH", "start": 51, "end": 54}], "disease": [{"text": "elevated alkaline phosphatase", "start": 17, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Although normotensive, cardiac hypertrophy was evident with obesity, and cardiac fibrosis more pronounced in obese GPx4 (+/-) mice.", "output": {"entities": {"gene": [{"text": "GPx4", "start": 115, "end": 119}], "disease": [{"text": "fibrosis", "start": 81, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPx4", "start": 115, "end": 119}, "tail": {"text": "fibrosis", "start": 81, "end": 89}}]}}, "schema": []}
{"input": "We treated a patient with T/myeloid biphenotypic acute leukemia showing clonal chromosomal and genetic abnormalities including dic (7; 12) (p11; p11) and Fms-like tyrosine kinase 3 (FLT3)-internal tandem duplication.", "output": {"entities": {"gene": [{"text": "p11", "start": 140, "end": 143}], "disease": [{"text": "biphenotypic acute leukemia", "start": 36, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Some studies indicate that the Trp64Arg polymorphism in the gene encoding the beta3-adrenergic receptor (ADRB3) is associated with obesity, insulin resistance and earlier onset of type 2 diabetes mellitus.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 105, "end": 110}], "disease": [{"text": "insulin resistance", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that if certain XPC haplotypes have functional effects, a correlation between these haplotypes and baseline and/or mutagen-induced CA would exist.", "output": {"entities": {"gene": [{"text": "XPC", "start": 32, "end": 35}], "disease": [{"text": "CA", "start": 147, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XPC", "start": 32, "end": 35}, "tail": {"text": "CA", "start": 147, "end": 149}}]}}, "schema": []}
{"input": "We also report on the association between GRM7 and BP in a second sample of 593 patients and 642 controls (UCL2).", "output": {"entities": {"gene": [{"text": "GRM7", "start": 42, "end": 46}], "disease": [{"text": "BP", "start": 51, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRM7", "start": 42, "end": 46}, "tail": {"text": "BP", "start": 51, "end": 53}}]}}, "schema": []}
{"input": "These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia.", "output": {"entities": {"gene": [{"text": "HPS4", "start": 44, "end": 48}], "disease": [{"text": "schizophrenia", "start": 133, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPS4", "start": 44, "end": 48}, "tail": {"text": "schizophrenia", "start": 133, "end": 146}}]}}, "schema": []}
{"input": "The loss of glucose-regulated protein 78 (GRP78) during normal aging or from siRNA knockdown augments human alpha-synuclein (α-syn) toxicity to rat nigral neurons.", "output": {"entities": {"gene": [{"text": "GRP78", "start": 42, "end": 47}], "disease": [{"text": "aging", "start": 63, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "To undertake analysis of hepatitis A viral load, alanine aminotransferase (ALT), and viral genotypes with duration of viremia, and to correlate these parameters with CD4 (+)/CD8 (+) lymphocyte populations that control cell-mediated immunity.", "output": {"entities": {"gene": [{"text": "CD4", "start": 166, "end": 169}], "disease": [{"text": "viremia", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Serum levels of ANXA2 expression in 115 patients with HCC, 25 with metastatic liver cancer, 35 with chronic hepatitis, 28 with acute hepatitis, 38 with cirrhosis, and 30 healthy controls were determined.", "output": {"entities": {"gene": [{"text": "HCC", "start": 54, "end": 57}], "disease": [{"text": "chronic hepatitis", "start": 100, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Also, the amount of immunostained nuclei for RelB (P = 0. 025) and NFkB1 (P = 0. 031) was higher in ER-breast tumors versus ER + breast tumors.", "output": {"entities": {"gene": [{"text": "RelB", "start": 45, "end": 49}], "disease": [{"text": "breast tumors", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The main polymorphisms on transporters OCT2, LRP, AQP2, AQP9 and TMEM205 genes were genotyped in 338 lung cancer patients.", "output": {"entities": {"gene": [{"text": "OCT2", "start": 39, "end": 43}], "disease": [{"text": "lung cancer", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Heat pre-conditioning fails to protect aged HDF to oxidative or hypoxic stress due in part to impaired HSP70 induction compared to young.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 103, "end": 108}], "disease": [{"text": "hypoxic", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of phospholipase C (PLC)-beta1 and PLC-beta3 proteins was apparent in the scar and viable tissues after MI versus controls and is associated with increased PLC-beta1 activity in experimental hearts.", "output": {"entities": {"gene": [{"text": "PLC", "start": 41, "end": 44}], "disease": [{"text": "scar", "start": 95, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Transforming growth factor beta1 (TGFbeta) inhibits cellular proliferation, promotes differentiation, and stimulates the expression and secretion of the extracellular matrix adhesion molecules fibronectin and laminin and the colon-associated intercellular adhesion molecule carcinoembryonic antigen.", "output": {"entities": {"gene": [{"text": "carcinoembryonic antigen", "start": 274, "end": 298}], "disease": [{"text": "adhesion", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.", "output": {"entities": {"gene": [{"text": "WASP", "start": 191, "end": 195}], "disease": [{"text": "X-linked thrombocytopenia", "start": 230, "end": 255}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 191, "end": 195}, "tail": {"text": "X-linked thrombocytopenia", "start": 230, "end": 255}}]}}, "schema": []}
{"input": "Overexpression of LPL in skeletal muscle has been linked with higher plasma glucose levels suggesting insulin resistance (Jensen et al., Am J Physiol 273: R683-R689, 1997).", "output": {"entities": {"gene": [{"text": "LPL", "start": 18, "end": 21}], "disease": [{"text": "insulin resistance", "start": 102, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "SSA treatment did not affect GRK2 and β-arrestin expression in GHomas or in cultured rat pituitary tumor GH3 cells.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 29, "end": 33}], "disease": [{"text": "pituitary tumor", "start": 89, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Here, we further investigate the effects of netrin-4, another member of the same netrin family, on neovascularization in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "netrin-4", "start": 44, "end": 52}], "disease": [{"text": "neovascularization", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The serotonin 5-HT (7) receptor has been linked to various psychiatric disorders, including schizophrenia, anxiety and depression, and is antagonized by antipsychotics such as risperidone, clozapine and lurasidone.", "output": {"entities": {"gene": [{"text": "5-HT (7", "start": 14, "end": 21}], "disease": [{"text": "depression", "start": 119, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (7", "start": 14, "end": 21}, "tail": {"text": "depression", "start": 119, "end": 129}}]}}, "schema": []}
{"input": "Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia.", "output": {"entities": {"gene": [{"text": "RPL27", "start": 57, "end": 62}], "disease": [{"text": "Diamond-Blackfan anaemia", "start": 122, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPL27", "start": 57, "end": 62}, "tail": {"text": "Diamond-Blackfan anaemia", "start": 122, "end": 146}}]}}, "schema": []}
{"input": "Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17 = HDL4).", "output": {"entities": {"gene": [{"text": "prion protein", "start": 148, "end": 161}], "disease": [{"text": "spinocerebellar ataxia 2", "start": 234, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "The present report describes a Tunisian family with a maternally inherited Leigh syndrome harboring the mitochondrial T8993G mutation in the ATPase 6 gene.", "output": {"entities": {"gene": [{"text": "ATPase 6", "start": 141, "end": 149}], "disease": [{"text": "maternally inherited Leigh syndrome", "start": 54, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATPase 6", "start": 141, "end": 149}, "tail": {"text": "maternally inherited Leigh syndrome", "start": 54, "end": 89}}]}}, "schema": []}
{"input": "Hepatic regulation of VLDL receptor by PPAR & #946;/& #948; and FGF21 modulates non-alcoholic fatty liver disease.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 64, "end": 69}], "disease": [{"text": "non-alcoholic fatty liver disease", "start": 80, "end": 113}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF21", "start": 64, "end": 69}, "tail": {"text": "non-alcoholic fatty liver disease", "start": 80, "end": 113}}]}}, "schema": []}
{"input": "We evaluated the relationship of amplification and polysomy of both the CCND1 and the ERBB2 (alias HER-2/NEU) genes to the overexpression of their proteins in esophageal and gastric cancers and also their association with clinicopathological features.", "output": {"entities": {"gene": [{"text": "CCND1", "start": 72, "end": 77}], "disease": [{"text": "esophageal", "start": 159, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that seven of these genes, including VCAM1 and CDK14, may confer growth and infiltration capacity to HCC cells.", "output": {"entities": {"gene": [{"text": "VCAM1", "start": 57, "end": 62}], "disease": [{"text": "HCC", "start": 121, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VCAM1", "start": 57, "end": 62}, "tail": {"text": "HCC", "start": 121, "end": 124}}]}}, "schema": []}
{"input": "Reduced expression of apolipoprotein E receptor type 2 in peripheral blood lymphocytes from patients with major depressive disorder.", "output": {"entities": {"gene": [{"text": "apolipoprotein E receptor", "start": 22, "end": 47}], "disease": [{"text": "major depressive disorder", "start": 106, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein E receptor", "start": 22, "end": 47}, "tail": {"text": "major depressive disorder", "start": 106, "end": 131}}]}}, "schema": []}
{"input": "These findings suggest that nuclear FMRP regulates genomic stability at the chromatin interface and may impact gametogenesis and some developmental aspects of fragile X syndrome.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 36, "end": 40}], "disease": [{"text": "fragile X syndrome", "start": 159, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 36, "end": 40}, "tail": {"text": "fragile X syndrome", "start": 159, "end": 177}}]}}, "schema": []}
{"input": "BRCA1-linked breast cancers are more aneuploid and have a worse prognosis, but this has not been elucidated in ovarian cancers.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "aneuploid", "start": 37, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The MALAT1 expression levels were greater in invasive carcinoma than in noninvasive carcinoma (P =. 018).", "output": {"entities": {"gene": [{"text": "MALAT1", "start": 4, "end": 10}], "disease": [{"text": "invasive carcinoma", "start": 45, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We now show that in human astrocytomas and glioblastomas, the normal pattern of expression of Shc1/Shc3 is totally subverted, both proteins being present at the same time and in the same cells.", "output": {"entities": {"gene": [{"text": "Shc1", "start": 94, "end": 98}], "disease": [{"text": "astrocytomas", "start": 26, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "LEP-2548A/A in GHD patients (65. 8%) was associated with lower weight, BMI, leptin concentrations than those of individuals carrying the A/G or G/G genotype (34. 2%).", "output": {"entities": {"gene": [{"text": "LEP", "start": 0, "end": 3}], "disease": [{"text": "weight", "start": 63, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrated that miR-200a and E-cadherin were significantly upregulated in EOC compared to benign epithelial ovarian cysts and normal ovarian tissues.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 49, "end": 59}], "disease": [{"text": "ovarian cysts", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Calcitonin gene-related peptide (CGRP) released from sensory neurons, which are closely apposed to mast cells and blood vessels, mediates gastric hyperemia in response to acid challenge of the damaged mucosa.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 33, "end": 37}], "disease": [{"text": "hyperemia", "start": 146, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "To understand the impact of the phenylethanolamine N-methyltransferase (PNMT) G-148A gene and nutritional variables on weight loss in obese women.", "output": {"entities": {"gene": [{"text": "PNMT", "start": 72, "end": 76}], "disease": [{"text": "obese", "start": 134, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Our recent studies have shown that hypothermic microenvironment promotes tumor progression and that the molecular sensors for cold are the transient receptor potential (TRP) channels TRPM8 and TRPA1.", "output": {"entities": {"gene": [{"text": "TRPA1", "start": 193, "end": 198}], "disease": [{"text": "hypothermic", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Alterations in the expression pattern of MTHFR, DHFR, TYMS, and SLC19A1 genes after treatment of laryngeal cancer cells with high and low doses of methotrexate.", "output": {"entities": {"gene": [{"text": "DHFR", "start": 48, "end": 52}], "disease": [{"text": "laryngeal cancer", "start": 97, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In addition, overexpression of LPL significantly suppressed high fat diet-induced obesity and insulin resistance in Tg WHHL rabbits.", "output": {"entities": {"gene": [{"text": "LPL", "start": 31, "end": 34}], "disease": [{"text": "insulin resistance", "start": 94, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Recent studies evidenced a decrease in ghrelin' s aqueous humor levels in patients with glaucoma.", "output": {"entities": {"gene": [{"text": "ghrelin' s", "start": 39, "end": 49}], "disease": [{"text": "glaucoma", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Patients with chronic hepatitis or liver cirrhosis develop HCC, and when this occurs, some patients exhibit autoantibodies of new specificities.", "output": {"entities": {"gene": [{"text": "HCC", "start": 59, "end": 62}], "disease": [{"text": "chronic hepatitis", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "This new humanized model of MS further implicates autoimmunity against MOBP in MS pathogenesis, provides the first evidence of pathogenic HLA-DQ-associated anti-myelin autoimmunity, and is the first to offer a rationale for HLA-DQB1 * 0602 association with MS.", "output": {"entities": {"gene": [{"text": "MOBP", "start": 71, "end": 75}], "disease": [{"text": "autoimmunity", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Such neurodegeneration may be precipitated by (RCAN1-1L-mediated) prolonged calcineurin inhibition and GSK-3β induction/activation, both of which promote tau hyperphosphorylation, and/or by (RCAN1-1L-mediated) effects on the mitochondrial ANT, diminished ATP/ADP ratio, opening of the mtPTP, and mitochondrial autophagy.", "output": {"entities": {"gene": [{"text": "ANT", "start": 239, "end": 242}], "disease": [{"text": "neurodegeneration", "start": 5, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The role of alpha 1b-adrenergic receptor (alpha 1b-AR) in relation with neuronal degeneration, drug addiction, and seizure susceptibility has recently emerged.", "output": {"entities": {"gene": [{"text": "alpha 1b-adrenergic receptor", "start": 12, "end": 40}], "disease": [{"text": "seizure", "start": 115, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 1b-adrenergic receptor", "start": 12, "end": 40}, "tail": {"text": "seizure", "start": 115, "end": 122}}]}}, "schema": []}
{"input": "This study was to detect 12 BCL3-PVRL2-TOMM40 SNPs, gene-gene and gene-environment interactions on dyslipidemia in the Chinese Maonan population.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 28, "end": 32}], "disease": [{"text": "dyslipidemia", "start": 99, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCL3", "start": 28, "end": 32}, "tail": {"text": "dyslipidemia", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.", "output": {"entities": {"gene": [{"text": "ATP6V0A4", "start": 17, "end": 25}], "disease": [{"text": "dRTA", "start": 93, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP6V0A4", "start": 17, "end": 25}, "tail": {"text": "dRTA", "start": 93, "end": 97}}]}}, "schema": []}
{"input": "We studied the associations of ADIPOQ, ADIPOR1, and ADIPOR2 polymorphisms with resting metabolic rate, RQ, and body mass index, percentage body fat, sum of 6 skinfold thicknesses, waist circumference, and total, subcutaneous, and visceral fat in 759 participants in the Québec Family Study.", "output": {"entities": {"gene": [{"text": "ADIPOR2", "start": 52, "end": 59}], "disease": [{"text": "body mass index", "start": 111, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Lactoferrin levels are also increased in the various phases of inflammation and dysplasia in an azoxymethane-dextran sulfate sodium (AOM-DSS) model of colitis-associated colon cancer (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 184, "end": 187}], "disease": [{"text": "colon cancer", "start": 170, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the male Gpx4-null mice rescued by the sGPX4 gene were infertile and exhibited sperm malformation.", "output": {"entities": {"gene": [{"text": "Gpx4", "start": 24, "end": 28}], "disease": [{"text": "malformation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The similarity in the putative secondary structures of XLF and XRCC4 as well as the association of XLF with XRCC4. DNA ligase IV in vivo suggested a role in the final ligation step of NHEJ.", "output": {"entities": {"gene": [{"text": "XRCC4", "start": 63, "end": 68}], "disease": [{"text": "secondary", "start": 31, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In different types of acute leukemias, CYP2B6 516 T allele frequency was significantly higher in AML with AML1-ETO (19. 2%, p < 0. 05), AML-NOS (22. 7%, p < 0. 01), acute monoblastic and monocytic leukemia (25. 9%, p < 0. 01), and T-ALL (38. 2%, p < 0. 01).", "output": {"entities": {"gene": [{"text": "CYP2B6", "start": 39, "end": 45}], "disease": [{"text": "acute monoblastic and monocytic leukemia", "start": 165, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Because circadian rhythms and sleep are known to modulate sympathovagal balance, we investigated whether homozygosity for this PER3 polymorphism is associated with changes in autonomic nervous system (ANS) activity during sleep and wakefulness at baseline and after sleep deprivation.", "output": {"entities": {"gene": [{"text": "PER3", "start": 127, "end": 131}], "disease": [{"text": "sleep deprivation", "start": 266, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Pertussis toxin prevented the inhibition of BK-induced hyperalgesia by U50, 488H, DPDPE, or DAMGO.", "output": {"entities": {"gene": [{"text": "BK", "start": 44, "end": 46}], "disease": [{"text": "hyperalgesia", "start": 55, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BK", "start": 44, "end": 46}, "tail": {"text": "hyperalgesia", "start": 55, "end": 67}}]}}, "schema": []}
{"input": "Although both microsatellite instability and LOH of NER factors were observed in some cases, there was no strong association between them in the present study.", "output": {"entities": {"gene": [{"text": "NER", "start": 52, "end": 55}], "disease": [{"text": "microsatellite instability", "start": 14, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Despite limitations due to study size, we conclude that the association between HCA intake and PCa risk could be modified by polymorphisms of GSTT1, GSTM1, and MnSOD.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 160, "end": 165}], "disease": [{"text": "PCa", "start": 95, "end": 98}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MnSOD", "start": 160, "end": 165}, "tail": {"text": "PCa", "start": 95, "end": 98}}]}}, "schema": []}
{"input": "Female carriers were asymptomatic although three had slightly abnormal color vision and small paracentral field defects and subtle RPE defects were found in three carriers.", "output": {"entities": {"gene": [{"text": "RPE", "start": 131, "end": 134}], "disease": [{"text": "asymptomatic", "start": 21, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Attempts to inhibit DAF function with anti-DAF Abs did not affect the quantity of complement activation by these anti-megalin Abs, nor did it lead to development of abnormal albuminuria.", "output": {"entities": {"gene": [{"text": "DAF", "start": 20, "end": 23}], "disease": [{"text": "albuminuria", "start": 174, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Multiple analyses of breast, lung, and ovarian tumor samples and/or cell lines show no evidence of MPL mRNA or TPO-R protein expression.", "output": {"entities": {"gene": [{"text": "MPL", "start": 99, "end": 102}], "disease": [{"text": "ovarian tumor", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The effects of MTA1 expression on SiHa cell apoptosis, cycle, proliferation, migration, invasion and adhesion were tested by flow cytometry, MTT, wound-healing assay, Transwell assay and adhesion assay, respectively.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 15, "end": 19}], "disease": [{"text": "adhesion", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Components of carcinomatous ascites and purified tumoral mucins (CA125 and TAG-72) bound the MR and induced its internalization.", "output": {"entities": {"gene": [{"text": "CA125", "start": 65, "end": 70}], "disease": [{"text": "carcinomatous ascites", "start": 14, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of mutated mismatch repair gene hMSH2 and mutant p53 gene in the carcinogenesis and development of sporadic digestive tract tumors.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 73, "end": 81}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "To study the integrity of the FSH receptor (FSHR) signaling pathway in granulosa-lutein cells at the time of egg retrieval and its relationship with the infertility diagnosis.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 44, "end": 48}], "disease": [{"text": "infertility", "start": 153, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "It was indicated that serum containing Chinese medicine BSHYJDR in the tumor-bearing mice and the normal mice had certainly different, tumor-bearing mice serum containing could improve drug concentration in lung cancer drug-resistance cells, prevent the inflow and release of Ca2 +, and inhibit the expression of the drug-resistance gene in the lung cancer drug-resistance cells, which might be the mechanism of BSHYJDR in enhancing the efficacy in reversing and inhibiting tumor.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 276, "end": 279}], "disease": [{"text": "lung cancer", "start": 207, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "A third family cosegregates mild mitral valve prolapse syndrome with a mutation in FBN1 that can be functionally distinguished from those associated with the classic MFS phenotype.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 83, "end": 87}], "disease": [{"text": "MFS", "start": 166, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 83, "end": 87}, "tail": {"text": "MFS", "start": 166, "end": 169}}]}}, "schema": []}
{"input": "Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.", "output": {"entities": {"gene": [{"text": "fibulin-4", "start": 35, "end": 44}], "disease": [{"text": "aortic aneurysm", "start": 97, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fibulin-4", "start": 35, "end": 44}, "tail": {"text": "aortic aneurysm", "start": 97, "end": 112}}]}}, "schema": []}
{"input": "The results suggest that seven of these genes, including VCAM1 and CDK14, may confer growth and infiltration capacity to HCC cells.", "output": {"entities": {"gene": [{"text": "CDK14", "start": 67, "end": 72}], "disease": [{"text": "HCC", "start": 121, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDK14", "start": 67, "end": 72}, "tail": {"text": "HCC", "start": 121, "end": 124}}]}}, "schema": []}
{"input": "The present study was designed to investigate the chemopreventive and chemotherapeutic effects of quercetin based on cytochrome P450 (CYP) mediated ROS generation, ROS-induced cellular damage and activation of the NFκB signalling circuit during 7, 12-dimethylbenz [a] anthracene (DMBA)-induced hamster buccal pouch (HBP) carcinogenesis.", "output": {"entities": {"gene": [{"text": "HBP", "start": 316, "end": 319}], "disease": [{"text": "carcinogenesis", "start": 321, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, both smoking and ageing seem to have minor influences on the spectrum of HPRT mutation in T cells.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 88, "end": 92}], "disease": [{"text": "smoking", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3.", "output": {"entities": {"gene": [{"text": "PLCB4", "start": 112, "end": 117}], "disease": [{"text": "ACS", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLCB4", "start": 112, "end": 117}, "tail": {"text": "ACS", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "We also observed an inhibitory effect of garcinol on IL-6-induced STAT-3 phosphorylation and production of urokinase-type plasminogen activator, vascular endothelial growth factor and matrix metalloproteinase-9, which might explain the reduced invasion and aggressiveness of cells treated with garcinol.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 53, "end": 57}], "disease": [{"text": "aggressiveness", "start": 257, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether the presence of the APOE epsilon4 allele can account for the earlier age at onset of familial AD (FAD) compared with sporadic AD (SAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 121, "end": 124}], "disease": [{"text": "sporadic", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "With the increase or decrease of NDRG2 levels in MCF-7 and Bcap-37 cells by adenovirus-NDRG2 infection or NDRG2 siRNA transfection, CD24 expression was significantly decreased or increased, respectively.", "output": {"entities": {"gene": [{"text": "CD24", "start": 132, "end": 136}], "disease": [{"text": "adenovirus", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Patients with autoimmune diabetes showed a clinical phenotype significantly different from that of type 2 diabetes, including higher fasting glucose and A1C, lower BMI and uric acid, lower prevalence of metabolic syndrome and its components, and higher frequency of TPO antibodies.", "output": {"entities": {"gene": [{"text": "TPO", "start": 266, "end": 269}], "disease": [{"text": "autoimmune diabetes", "start": 14, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "HBO significantly reduced loss of hippocampal CA1 neurons that normally follows transient forebrain ischemia when the last HBO session was 6 h, 12 h, or 24 h before ischemia (survived neurons 55%, 75%, and 53%, respectively), whereas if there was a 72-h delay before the ischemic insult, HBO was not protective (survived neurons only 6%).", "output": {"entities": {"gene": [{"text": "CA1", "start": 46, "end": 49}], "disease": [{"text": "ischemia", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Further studies should address the possible involvement of the TSP1 in the pathophysiology of diabetic retinopathy.", "output": {"entities": {"gene": [{"text": "TSP1", "start": 63, "end": 67}], "disease": [{"text": "diabetic retinopathy", "start": 94, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TSP1", "start": 63, "end": 67}, "tail": {"text": "diabetic retinopathy", "start": 94, "end": 114}}]}}, "schema": []}
{"input": "To investigate the physiological and pathological role of Jak3 in glomeruli, we prepared anti-Jak3 antibody and analysed the localization of Jak3 in glomeruli of renal biopsy samples from various nephritis patients and normal subjects.", "output": {"entities": {"gene": [{"text": "Jak3", "start": 58, "end": 62}], "disease": [{"text": "nephritis", "start": 196, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "We investigated the expression of specific extracellular matrix (ECM) proteins in cardiac hypertrophy induced by isoproterenol in TGR (A1-7) 3292 rats.", "output": {"entities": {"gene": [{"text": "TGR", "start": 130, "end": 133}], "disease": [{"text": "cardiac hypertrophy", "start": 82, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "18 SNPs in six one-carbon metabolism-related genes (CBS, MTHFR, MTR, MTRR, SHMT1, and TYMS) were genotyped in 859 clear cell renal cell carcinoma (ccRCC) patients and 1005 cancer-free controls by the Snapshot.", "output": {"entities": {"gene": [{"text": "MTR", "start": 64, "end": 67}], "disease": [{"text": "clear cell renal cell carcinoma", "start": 114, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Using the sib-pair methods, evidence for linkage was found with orosomucoid (ORM) on chromosome 9q (p = 0. 006), regardless of whether only individuals with unipolar depression, alcoholism, or antisocial personality were considered to be affected, or whether individuals with any psychiatric disorder were considered to be affected.", "output": {"entities": {"gene": [{"text": "ORM", "start": 77, "end": 80}], "disease": [{"text": "antisocial personality", "start": 193, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Analysis of 4, 509 cases with a severe subtype of MDD, melancholia, yielded an increased genetic signal at the SIRT1 locus.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 111, "end": 116}], "disease": [{"text": "melancholia", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Fibrinogenolysis and thrombin generation after reduced dose bolus or conventional rt-PA for pulmonary embolism. The Coagulation Project Investigators of the Bolus Alteplase Pulmonary Embolism Group.", "output": {"entities": {"gene": [{"text": "Alteplase", "start": 163, "end": 172}], "disease": [{"text": "pulmonary embolism", "start": 92, "end": 110}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Alteplase", "start": 163, "end": 172}, "tail": {"text": "pulmonary embolism", "start": 92, "end": 110}}]}}, "schema": []}
{"input": "These results preliminarily suggest that HERV-K115 may not be associated with schizophrenia in general, but that it could play a partial role in early precipitation of the disease.", "output": {"entities": {"gene": [{"text": "HERV-K115", "start": 41, "end": 50}], "disease": [{"text": "schizophrenia", "start": 78, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HERV-K115", "start": 41, "end": 50}, "tail": {"text": "schizophrenia", "start": 78, "end": 91}}]}}, "schema": []}
{"input": "Necdin is functionally similar to the retinoblastoma protein and binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T, adenovirus E1A, and the transcription factor E2F.", "output": {"entities": {"gene": [{"text": "Necdin", "start": 0, "end": 6}], "disease": [{"text": "adenovirus", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The transfection of miR-205 into KB oral cancer cells strongly induced IL-24, a well known cytokine that acts as a tumor suppressor in a range of tumor tissues.", "output": {"entities": {"gene": [{"text": "IL-24", "start": 71, "end": 76}], "disease": [{"text": "oral cancer", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Short interfering RNAs (siRNAs) specific for B7-H4 were evaluated for their ability to knockdown B7-H4 mRNA and protein expression in pancreatic cancer cells and the most effective siRNA was selected for investigating the effect of B7-H4 gene silencing in a number of functional assays.", "output": {"entities": {"gene": [{"text": "H4 gene", "start": 235, "end": 242}], "disease": [{"text": "pancreatic cancer", "start": 134, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of TNF-α, IFN-γ in the hyperplasia group have a positive correlation to bone loss, whereas expression levels of TGF-β, IL-4 in the necrosis group have a positive correlation to the bone formation.", "output": {"entities": {"gene": [{"text": "IFN", "start": 28, "end": 31}], "disease": [{"text": "hyperplasia", "start": 41, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The basis for this idea originated from studies in two related patients with a partial trisomy 18p11 and therefore carrying 3 copies of the PACAP gene and elevated PACAP concentrations in their plasma which resulted in a bleeding tendency with thrombopathy and a mild thrombocytopenia.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 140, "end": 145}], "disease": [{"text": "partial trisomy", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "As expected, all squamous epithelia including skin, oral mucosa, trachea, vaginal epithelium, and the epithelial compartment of the thymus expressed aberrant levels of cyclin D1.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 168, "end": 177}], "disease": [{"text": "trachea", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "To analyze the promoter region of PIP5K2A, a phosphatidylinositol 4-phosphate 5-kinase that maps to 10p in a region linked to both bipolar disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "phosphatidylinositol 4-phosphate 5-kinase", "start": 45, "end": 86}], "disease": [{"text": "bipolar disorder", "start": 131, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phosphatidylinositol 4-phosphate 5-kinase", "start": 45, "end": 86}, "tail": {"text": "bipolar disorder", "start": 131, "end": 147}}]}}, "schema": []}
{"input": "Alterations of the CCND1 and HER-2/neu (ERBB2) proteins in esophageal and gastric cancers.", "output": {"entities": {"gene": [{"text": "CCND1", "start": 19, "end": 24}], "disease": [{"text": "esophageal", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "MYLK may be a new target for intervention in glaucoma to alter reactive astrocyte migration in the ONH.", "output": {"entities": {"gene": [{"text": "MYLK", "start": 0, "end": 4}], "disease": [{"text": "glaucoma", "start": 45, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYLK", "start": 0, "end": 4}, "tail": {"text": "glaucoma", "start": 45, "end": 53}}]}}, "schema": []}
{"input": "Our findings point out the association between PMS2 and TS, and support the hypothesis that patients with a few polyps, small bowel tumors with a very early onset, glioblastoma, and CALS should be considered as a variant of hereditary nonpolyposis colorectal cancer.", "output": {"entities": {"gene": [{"text": "PMS2", "start": 47, "end": 51}], "disease": [{"text": "polyps", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.", "output": {"entities": {"gene": [{"text": "MBTPS2", "start": 27, "end": 33}], "disease": [{"text": "Olmsted syndrome", "start": 70, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MBTPS2", "start": 27, "end": 33}, "tail": {"text": "Olmsted syndrome", "start": 70, "end": 86}}]}}, "schema": []}
{"input": "This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion.", "output": {"entities": {"gene": [{"text": "POLG2", "start": 68, "end": 73}], "disease": [{"text": "mitochondrial depletion", "start": 137, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Recently, WHIM (warts, hypogammaglobulinaemia, infections, myelokathexis) syndrome-like mutations in CXCR4 have been described in 28% of LPL cases, and seem to impact clinical presentation and response to therapy.", "output": {"entities": {"gene": [{"text": "LPL", "start": 137, "end": 140}], "disease": [{"text": "infections", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 22, "end": 26}], "disease": [{"text": "fragile X syndrome", "start": 67, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 22, "end": 26}, "tail": {"text": "fragile X syndrome", "start": 67, "end": 85}}]}}, "schema": []}
{"input": "Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 45, "end": 60}], "disease": [{"text": "Budd-Chiari syndrome", "start": 8, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor V Leiden", "start": 45, "end": 60}, "tail": {"text": "Budd-Chiari syndrome", "start": 8, "end": 28}}]}}, "schema": []}
{"input": "Although obesity may not play a pathogenic role in initiating arthritis, it could play an important role in amplifying the inflammation of arthritis through the Th1/Th17 response.", "output": {"entities": {"gene": [{"text": "Th1", "start": 161, "end": 164}], "disease": [{"text": "inflammation", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Genes showing increased expression in carcinomas by cDNA microarray analysis (and further validated by immunohistochemistry and western blot analysis) include cyclin D1, PDGF-A chain, retinol binding protein 1, prohibitin and the transcription factor STAT5A.", "output": {"entities": {"gene": [{"text": "STAT5A", "start": 251, "end": 257}], "disease": [{"text": "carcinomas", "start": 38, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT5A", "start": 251, "end": 257}, "tail": {"text": "carcinomas", "start": 38, "end": 48}}]}}, "schema": []}
{"input": "We evaluated 29 areas showing normal terminal ductal lobular units (TDLUs) or histopathologically benign changes (in particular, sclerosing adenosis), using a panel of polymorphic dinucleotide microsatellite markers for the BRCA1 gene and other chromosome 17 loci, for the BRCA2 gene and other chromosome 13 loci, and for the FHIT gene on 3p14. 2.", "output": {"entities": {"gene": [{"text": "FHIT gene", "start": 326, "end": 335}], "disease": [{"text": "sclerosing adenosis", "start": 129, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether genetic polymorphism of alcohol dehydrogenase (ADH) 2 and aldehyde dehydrogenase (ALDH) 2 was related to alcoholic testicular atrophy, we determined restriction fragment-length polymorphisms of the ADH2 and ALDH2 genes in 43 Japanese male alcoholics and 50 healthy subjects.", "output": {"entities": {"gene": [{"text": "ADH", "start": 70, "end": 73}], "disease": [{"text": "testicular atrophy", "start": 138, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Functional deficiency of the FEN1 gene has been suggested to cause genomic instability and cancer predisposition.", "output": {"entities": {"gene": [{"text": "FEN1 gene", "start": 29, "end": 38}], "disease": [{"text": "genomic instability", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we showed that ATGL knockdown increased monocyte adhesion to the endothelium through enhanced TNFα-induced ICAM-1 expression via activation of NFκB and PKC.", "output": {"entities": {"gene": [{"text": "ATGL", "start": 30, "end": 34}], "disease": [{"text": "adhesion", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Hyperlysinemia is caused by mutations in AASS.", "output": {"entities": {"gene": [{"text": "AASS", "start": 41, "end": 45}], "disease": [{"text": "Hyperlysinemia", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AASS", "start": 41, "end": 45}, "tail": {"text": "Hyperlysinemia", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22. 1-p21. 3 in a Belgian family.", "output": {"entities": {"gene": [{"text": "p21", "start": 90, "end": 93}], "disease": [{"text": "microcephaly", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "No robust differences were observed between mutants and wild-type littermates in locomotor activity or in behavioral paradigms that evaluate anxiety or depression-like phenotypes; however, Scn8a (med-jo/+) mutants did show enhanced spatial memory.", "output": {"entities": {"gene": [{"text": "Scn8a", "start": 189, "end": 194}], "disease": [{"text": "anxiety", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that the treatment of human lung adenocarcinoma A549 cells with CAV caused growth inhibition; G1 phase arrest is accompanied by accumulation of an incompletely phosphorylated form of the retinoblastoma protein, whose phosphorylation is necessary for cell cycle progression from G1 to S phase.", "output": {"entities": {"gene": [{"text": "CAV", "start": 80, "end": 83}], "disease": [{"text": "lung adenocarcinoma", "start": 44, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that, in mild atopic asthma, IL-13 and IL-4 are coexpressed and that the upregulation of IL-13 expression is greater than that of IL-4.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 65, "end": 69}], "disease": [{"text": "mild", "start": 35, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED).", "output": {"entities": {"gene": [{"text": "IFT122", "start": 86, "end": 92}], "disease": [{"text": "cranioectodermal dysplasia", "start": 174, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT122", "start": 86, "end": 92}, "tail": {"text": "cranioectodermal dysplasia", "start": 174, "end": 200}}]}}, "schema": []}
{"input": "In this study, we investigated the differential expression of miRNAs and the posttranscriptional regulation of glial-derived neurotrophic factor (GDNF) by endogenous miRNA in congenital intestinal atresia.", "output": {"entities": {"gene": [{"text": "neurotrophic factor", "start": 125, "end": 144}], "disease": [{"text": "congenital intestinal atresia", "start": 175, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "A first cross-sectional examination of 68 HIV-1-infected and 18 normal subjects showed high levels of sCD27 in HIV-1 infection; plasma sCD27 was correlated to HIV-1 viraemia and inversely correlated to CD4 + T cell count.", "output": {"entities": {"gene": [{"text": "CD4", "start": 202, "end": 205}], "disease": [{"text": "viraemia", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The MTHFR 677TT genotype may be a genetic risk factor for male infertility, especially with severe OAT and non-obstructive azoospermia in unexplained infertile males.", "output": {"entities": {"gene": [{"text": "OAT", "start": 99, "end": 102}], "disease": [{"text": "infertile", "start": 150, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In consequence, the mosaic mice show evidence of haemolysis accompanied by haptoglobin-dependent elimination of haemoglobin (Hb) from the circulation, as well as the induction of haem oxygenase 1 (HO1) in the liver and kidney.", "output": {"entities": {"gene": [{"text": "haptoglobin", "start": 75, "end": 86}], "disease": [{"text": "haemolysis", "start": 49, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "haptoglobin", "start": 75, "end": 86}, "tail": {"text": "haemolysis", "start": 49, "end": 59}}]}}, "schema": []}
{"input": "The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia.", "output": {"entities": {"gene": [{"text": "CACNA1B", "start": 83, "end": 90}], "disease": [{"text": "schizophrenia", "start": 214, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNA1B", "start": 83, "end": 90}, "tail": {"text": "schizophrenia", "start": 214, "end": 227}}]}}, "schema": []}
{"input": "However the duration of infection in these mice was evaluated for a limited time lasting only weeks post infection, and it is not established how long the viremia can be sustained, and if the CD4 T cell loss persists throughout the life of the infected humanized mice.", "output": {"entities": {"gene": [{"text": "CD4", "start": 192, "end": 195}], "disease": [{"text": "viremia", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.", "output": {"entities": {"gene": [{"text": "dihydropyrimidinase", "start": 118, "end": 137}], "disease": [{"text": "Dihydropyrimidinase deficiency", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dihydropyrimidinase", "start": 118, "end": 137}, "tail": {"text": "Dihydropyrimidinase deficiency", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "The classifier was validated on an independent group of 19 BRCA2-mutated and 19 sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 59, "end": 64}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In this study 20 brain tumors consisting of 15 glioblastomas, 4 meningiomas and 1 gliosarcoma were investigated for the presence of GAL-LI and GAL receptors.", "output": {"entities": {"gene": [{"text": "GAL", "start": 132, "end": 135}], "disease": [{"text": "gliosarcoma", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.", "output": {"entities": {"gene": [{"text": "KIT", "start": 72, "end": 75}], "disease": [{"text": "gastrointestinal stromal tumours", "start": 9, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT", "start": 72, "end": 75}, "tail": {"text": "gastrointestinal stromal tumours", "start": 9, "end": 41}}]}}, "schema": []}
{"input": "CD276 and the alternative checkpoint inhibition PVR/NECTIN2/CD226/TIGIT pathway emerged as relevant to PC checkpoint inhibition target development.", "output": {"entities": {"gene": [{"text": "CD276", "start": 0, "end": 5}], "disease": [{"text": "PC", "start": 103, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD276", "start": 0, "end": 5}, "tail": {"text": "PC", "start": 103, "end": 105}}]}}, "schema": []}
{"input": "In addition, we report here five new loci for prostate cancer susceptibility, at 5p15 (lambda-corrected probability P (GC) = 3. 9 x 10 (-18)), GPRC6A/RFX6 (P (GC) = 1. 6 x 10 (-12)), 13q22 (P (GC) = 2. 8 x 10 (-9)), C2orf43 (P (GC) = 7. 5 x 10 (-8)) and FOXP4 (P (GC) = 7. 6 x 10 (-8)).", "output": {"entities": {"gene": [{"text": "GPRC6A", "start": 143, "end": 149}], "disease": [{"text": "prostate cancer susceptibility", "start": 46, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The role of vaspin in the diabetic vascular complications remains elusive, and we investigated the effects of vaspin on the vascular function under the diabetic milieu.", "output": {"entities": {"gene": [{"text": "vaspin", "start": 12, "end": 18}], "disease": [{"text": "diabetic vascular complications", "start": 26, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of miR-181b inhibited importin-α3 expression and an enriched set of NF-κB-responsive genes such as adhesion molecules VCAM-1 and E-selectin in ECs in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 83, "end": 88}], "disease": [{"text": "adhesion", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "USP44 regulates centrosome positioning to prevent aneuploidy and suppress tumorigenesis.", "output": {"entities": {"gene": [{"text": "USP44", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 129, "end": 135}], "disease": [{"text": "Kniest dysplasia", "start": 0, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 129, "end": 135}, "tail": {"text": "Kniest dysplasia", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "Importantly, glioblastoma lines derived from independent genetically engineered mouse models (GEMMs) were more sensitive to haloperidol, an FDA approved DRD2 antagonist, than the premalignant astrocyte lines by approximately an order of magnitude.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 153, "end": 157}], "disease": [{"text": "premalignant", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we obtained evidence that this beta-TrCP-dependent degradation takes part in controlling cyclin D1 turnover when cancer cells undergo glucose starvation, which endows physiological relevance to this novel mechanism.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 99, "end": 108}], "disease": [{"text": "starvation", "start": 152, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Together, these results indicate that Prox1 plays an important, previously unanticipated role in mediating the aggressive behavior of vascular neoplasms such as KS.", "output": {"entities": {"gene": [{"text": "Prox1", "start": 38, "end": 43}], "disease": [{"text": "aggressive behavior", "start": 111, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "It is well known that oxLDL activates nuclear factor erythroid 2-related factor 2 (Nrf2), a master regulator of antioxidant and cytoprotective genes such as heme oxygenase-1 (HO-1), which play an important role in preeclampsia.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 83, "end": 87}], "disease": [{"text": "preeclampsia", "start": 214, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "We searched for the presence of human T-cell leukemia virus type I (HTLV-I) sequences in central nervous system and muscle lesions of 3 patients with tropical spastic paraparesis/HTLV-I-associated myelopathy (TSP/HAM) and 3 patients with HTLV-I-associated polymyositis.", "output": {"entities": {"gene": [{"text": "TSP", "start": 209, "end": 212}], "disease": [{"text": "polymyositis", "start": 256, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that breast cancer cells, through downregulation of CD1d and subsequent evasion of NKT-mediated antitumor immunity, gain increased potential for metastatic tumor progression.", "output": {"entities": {"gene": [{"text": "CD1d", "start": 67, "end": 71}], "disease": [{"text": "tumor progression", "start": 171, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 76, "end": 82}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 99, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 76, "end": 82}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 99, "end": 129}}]}}, "schema": []}
{"input": "15-LOX-2 was expressed in normal esophageal epithelial cells (EECs) at the highest levels, whereas an SV40-immortalized HET-1A line and three of five esophageal cancer cell lines failed to express it at detectable levels.", "output": {"entities": {"gene": [{"text": "15-LOX-2", "start": 0, "end": 8}], "disease": [{"text": "esophageal", "start": 33, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Molecular cytogenetic analysis confirmed that formation of an ETV6/ABL1 fusion in these patients required at least three chromosomal breaks and showed that each of these translocations is the result of a complex chromosomal rearrangement.", "output": {"entities": {"gene": [{"text": "ETV6", "start": 62, "end": 66}], "disease": [{"text": "chromosomal breaks", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of many zinc transporters (ZnT4, ZnT5, ZnT9, Zip1, Zip4, and Zip6) were significantly lower in obese women, and expression of these genes was inversely correlated with BMI and body fat percentage.", "output": {"entities": {"gene": [{"text": "ZnT4", "start": 43, "end": 47}], "disease": [{"text": "body fat percentage", "start": 192, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "EC cell lines are characterized by low SNCG protein levels under control conditions, but exhibit a significant increase triggered by hypoxia and acidosis.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 39, "end": 43}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Alternatively, the progressive accumulation of mutants in patients with acute hepatitis, chronic hepatitis and HCC may reflect the increased length of duration of HBV infection in these groups of liver lesions.", "output": {"entities": {"gene": [{"text": "HCC", "start": 111, "end": 114}], "disease": [{"text": "chronic hepatitis", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 134, "end": 139}], "disease": [{"text": "Goltz-Gorlin syndrome", "start": 247, "end": 268}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PORCN", "start": 134, "end": 139}, "tail": {"text": "Goltz-Gorlin syndrome", "start": 247, "end": 268}}]}}, "schema": []}
{"input": "Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 17, "end": 22}], "disease": [{"text": "Rett syndrome", "start": 54, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 17, "end": 22}, "tail": {"text": "Rett syndrome", "start": 54, "end": 67}}]}}, "schema": []}
{"input": "CONCLUSIONS: These findings imply that DCD promotes breast tumorigenesis via modulation of ERBB signaling pathways.", "output": {"entities": {"gene": [{"text": "DCD", "start": 39, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We previously reported that quercetin, a bioflavonoid belonging to polyphenols, inhibited Angiotensin II (Ang II)-induced vascular smooth muscle cell (VSMC) hypertrophy through the inhibition of c-Jun N-terminal kinase (JNK) activation.", "output": {"entities": {"gene": [{"text": "JNK", "start": 220, "end": 223}], "disease": [{"text": "hypertrophy", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In addition, reelin protein in the molecular layer of the dentate gyrus was decreased in schizophrenia, bipolar disorder, and depression at the trend level of statistical significance (P = 0. 065).", "output": {"entities": {"gene": [{"text": "reelin", "start": 13, "end": 19}], "disease": [{"text": "depression", "start": 126, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reelin", "start": 13, "end": 19}, "tail": {"text": "depression", "start": 126, "end": 136}}]}}, "schema": []}
{"input": "Our study provides the first systematic investigation of the association of genetic variants in the HLA-DP region with cervical cancer susceptibility and provides further insight into the contribution of polymorphisms in the HLA-DP region to risk of cervical cancer.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 100, "end": 106}], "disease": [{"text": "cervical cancer", "start": 119, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Impaired SOD2 activity in murine hematopoietic cells affects erythroid development, resulting in anemia characterized by intra-mitochondrial iron deposition, reticulocytosis and shortened red cell life span.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 9, "end": 13}], "disease": [{"text": "reticulocytosis", "start": 158, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 9, "end": 13}, "tail": {"text": "reticulocytosis", "start": 158, "end": 173}}]}}, "schema": []}
{"input": "In the present study, we confirmed the association of rs1800469 in TGF-beta1 and rs20541 in IL-13 with asthma and found a trend toward association between rs2241712 in TGF-beta1 and rs2070874 in IL-4 with asthma among atopic subjects, suggesting TGF-beta1, IL-4 and IL-13 may be associated with the susceptibility and development of asthma in this Chinese population.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 92, "end": 97}], "disease": [{"text": "atopic", "start": 218, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Increased PLD2 immunoreactivity after this sublethal ischemia was observed in CA1 pyramidal neurons of the rat hippocampus.", "output": {"entities": {"gene": [{"text": "CA1", "start": 78, "end": 81}], "disease": [{"text": "ischemia", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Solid pseudopapillary neoplasms of the pancreas are associated with FLI-1 expression, but not with EWS/FLI-1 translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 99, "end": 102}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of IL-4delta2 in stable asthmatic subjects suggests that the balance of IL-4 and IL-4delta2 may modulate asthmatic inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 24, "end": 28}], "disease": [{"text": "inflammation", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Regression analyses demonstrated that the increased levels of CD4 (+) CD28 (null) T cells were positively correlated to serum levels of C-reactive protein, suggesting systemic inflammation and atherosclerosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 62, "end": 65}], "disease": [{"text": "atherosclerosis", "start": 193, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest TP53 PIN3 Ins16bp polymorphism as a real risk modifier in breast cancer disease, either in sporadic and familial breast cancer.", "output": {"entities": {"gene": [{"text": "TP53", "start": 21, "end": 25}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "SIRT1-mediated activation of FGF21 prevents liver steatosis caused by fasting.", "output": {"entities": {"gene": [{"text": "FGF21", "start": 29, "end": 34}], "disease": [{"text": "liver steatosis", "start": 44, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF21", "start": 29, "end": 34}, "tail": {"text": "liver steatosis", "start": 44, "end": 59}}]}}, "schema": []}
{"input": "DBC1 was hypermethylated in 5 of 5 B-cell-derived lymphoma cell lines, 41 of 42 diffuse large B-cell lymphomas, 24 of 24 follicular lymphomas, 5 of 5 mantle cell lymphomas, 4 of 4 small lymphocytic lymphomas, 1 of 2 lymphoplasmacytoid lymphomas, and in 12 of 12 acute lymphoblastic leukemias, but was unmethylated in 1 case of splenic marginal zone lymphoma, in 12 of 12 multiple myelomas, in 24 of 24 reactive lymph nodes, and in 12 of 12 samples of blood lymphocytes from random donors.", "output": {"entities": {"gene": [{"text": "DBC1", "start": 0, "end": 4}], "disease": [{"text": "lymphoma", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis.", "output": {"entities": {"gene": [{"text": "SEC63", "start": 58, "end": 63}], "disease": [{"text": "PCLD", "start": 41, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEC63", "start": 58, "end": 63}, "tail": {"text": "PCLD", "start": 41, "end": 45}}]}}, "schema": []}
{"input": "To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).", "output": {"entities": {"gene": [{"text": "ESSs", "start": 361, "end": 365}], "disease": [{"text": "inflammatory myofibroblastic tumor", "start": 380, "end": 414}]}, "relations": {}}, "schema": []}
{"input": "RER positivity occurs from an early stage of carcinogenesis in HNPCC but in later stages in non-HNPCC.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "carcinogenesis", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle' s loop (tALH), causing renal magnesium wasting and hypercalciuria.", "output": {"entities": {"gene": [{"text": "MIM", "start": 68, "end": 71}], "disease": [{"text": "hypercalciuria", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "We evaluated angiogenesis and p53 expression in 16 hyperplastic polyps, 35 solitary tubular and tubulovillous adenomas, and 47 cases of sporadic colorectal carcinomas arising on the basis of preexisting adenomas, with standard immunohistochemical techniques.", "output": {"entities": {"gene": [{"text": "p53", "start": 30, "end": 33}], "disease": [{"text": "sporadic", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "It seems that examination of sporadic or familial MM cases for the 1100delC germline mutation in CHK2 is not justified.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 97, "end": 101}], "disease": [{"text": "sporadic", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "VEGF-460 CC was more common in UTI cases with renal scarring than in non-scarring patients and controls (P = 0. 03 and 0. 001, respectively).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "scarring", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrate that MCPIP1 functions as a potent tumor suppressor that induces apoptosis of breast tumor cells by selectively enhancing mRNA decay of antiapoptotic gene transcripts, including Bcl2L1, Bcl2A1, RelB, Birc3, and Bcl3.", "output": {"entities": {"gene": [{"text": "RelB", "start": 223, "end": 227}], "disease": [{"text": "breast tumor", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "PCR-PFLP was applied to determine the genotypes of Ala55Val variant in the UCP2 gene of 86 Chengdu people (the simple obesity group, 43 subjects; the normal-weight group, 43 subjects).", "output": {"entities": {"gene": [{"text": "UCP2 gene", "start": 75, "end": 84}], "disease": [{"text": "weight", "start": 157, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Fragile histidine triad (FHIT) loss by the two-hit mechanism of loss of heterozygosity and promoter hypermethylation commonly occurrs in non-small cell lung cancer (NSCLC) and may confer cisplatin resistance in NSCLC cells.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 25, "end": 29}], "disease": [{"text": "hit", "start": 47, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Spinal K252a treatment did not alter hypersensitivity from spinal nerve ligation (SNL), but blocked the SNL-associated increase in dopamine-β-hydroxylase (DβH) fiber density in the spinal cord dorsal horn while reducing spinal choline acetyltransferase (ChAT)-immunoreactivity.", "output": {"entities": {"gene": [{"text": "choline acetyltransferase", "start": 227, "end": 252}], "disease": [{"text": "hypersensitivity", "start": 37, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Smoking and high mean GBI are associated with an increased risk for recurrence of periodontitis, whereas regular SPT acts as a protective factor.", "output": {"entities": {"gene": [{"text": "SPT", "start": 113, "end": 116}], "disease": [{"text": "periodontitis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Deprivation of glucose or stimulation with adenosine or noradrenaline leads to an increased phosphorylation of PP1-R3F bound GS at Ser640 and Ser644 curtailing glycogen synthesis and facilitating glycogen degradation to provide glucose in astrocytoma cells.", "output": {"entities": {"gene": [{"text": "PP1", "start": 111, "end": 114}], "disease": [{"text": "astrocytoma", "start": 239, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "LR11 expression was also evaluated based on immunoblotting and LR11 immunostaining intensity in human frontal cortex in controls, sporadic AD, and FAD, including cases with presenilin-1 (PS1) and presenilin-2 (PS2) mutations.", "output": {"entities": {"gene": [{"text": "FAD", "start": 147, "end": 150}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.", "output": {"entities": {"gene": [{"text": "DICER1", "start": 0, "end": 6}], "disease": [{"text": "Sertoli-Leydig cell tumors", "start": 74, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DICER1", "start": 0, "end": 6}, "tail": {"text": "Sertoli-Leydig cell tumors", "start": 74, "end": 100}}]}}, "schema": []}
{"input": "The NF1 gene, mutated in NF1, is also commonly mutated in sporadic glioblastoma multiforme (GBM).", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 4, "end": 12}], "disease": [{"text": "sporadic", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the associations of OGG1 Ser326Cys SNP in relation to HIV and obesity on the susceptibility of low-birthweight (LBW) and pre-term birth (PTB) in SA women exposed to ambient air-pollution living in Durban.", "output": {"entities": {"gene": [{"text": "OGG1", "start": 44, "end": 48}], "disease": [{"text": "pre-term", "start": 145, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OGG1", "start": 44, "end": 48}, "tail": {"text": "pre-term", "start": 145, "end": 153}}]}}, "schema": []}
{"input": "It was recently reported that an intronic variant of p53--G13964C--occurred in three out of 42 (7. 1%)' hereditary' breast cancer patients, but not in any of 171' sporadic' breast cancer control individuals (P = 0. 0003).", "output": {"entities": {"gene": [{"text": "p53", "start": 53, "end": 56}], "disease": [{"text": "sporadic", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis.", "output": {"entities": {"gene": [{"text": "AKR1C2", "start": 29, "end": 35}], "disease": [{"text": "endometriosis", "start": 94, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1C2", "start": 29, "end": 35}, "tail": {"text": "endometriosis", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "In contrast, the CD44 + CD24-/low population expansion is HIF1α independent and requires prolyl hydroxylase 3 (PHD3) downregulation, which mimics hypoxic conditions, leading to reduced CD24 expression through activation of NFkB signaling.", "output": {"entities": {"gene": [{"text": "CD44", "start": 17, "end": 21}], "disease": [{"text": "hypoxic", "start": 146, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "However, the XRCC1 Arg194Trp and Arg280His variants were each associated with a reduced risk of lung cancer among subjects in the highest quartile of pack-years of smoking compared with common allele homozygotes (ORs of 0. 65 [95% CI = 0. 46 to 0. 93] and 0. 56 [95% CI = 0. 36 to 0. 86], respectively).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 13, "end": 18}], "disease": [{"text": "smoking", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Family-based association study of IGF1 microsatellites and height, weight, and body mass index.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 34, "end": 38}], "disease": [{"text": "weight", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate a role for MT1-MMP not only in the matrix degradation by fibroblasts, but also in osteoclast-mediated bone resorption in RA.", "output": {"entities": {"gene": [{"text": "MT1-MMP", "start": 32, "end": 39}], "disease": [{"text": "bone resorption", "start": 123, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In particular, frequent losses on 4p, 4q, and 5q in BRCA1 tumors and frequent gains on 7p and 17q24 in BRCA2 tumors distinguish these from sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 103, "end": 108}], "disease": [{"text": "sporadic", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Repair of chromosome breaks was impaired in lymphocytes from affected, but not unaffected, females in both families, consistent with MCM9 function in homologous recombination.", "output": {"entities": {"gene": [{"text": "MCM9", "start": 133, "end": 137}], "disease": [{"text": "chromosome breaks", "start": 10, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The MIF risk genotypes and H. pylori conferred a joint ARP of 93. 2% to gastric cancer.", "output": {"entities": {"gene": [{"text": "MIF", "start": 4, "end": 7}], "disease": [{"text": "gastric cancer", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Further, in silico analysis revealed that the-1438 A allele creates a consensus binding site for Th1/E47, a transcription factor implicated in the development of the nervous system.", "output": {"entities": {"gene": [{"text": "Th1", "start": 97, "end": 100}], "disease": [{"text": "nervous system", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Breast cancer cells that survived chemotherapy or hypoxia were enriched for cells expressing the major hyaluronic acid receptor CD44.", "output": {"entities": {"gene": [{"text": "CD44", "start": 128, "end": 132}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "These include previously unrecognized putative cancer drivers (RPS15, IKZF3), and collectively identify RNA processing and export, MYC activity, and MAPK signalling as central pathways involved in CLL.", "output": {"entities": {"gene": [{"text": "IKZF3", "start": 70, "end": 75}], "disease": [{"text": "CLL", "start": 197, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IKZF3", "start": 70, "end": 75}, "tail": {"text": "CLL", "start": 197, "end": 200}}]}}, "schema": []}
{"input": "The HCC development was associated with expression of early HCC markers (glutamine synthetase, glypican 3, heat shock protein 70, and the serum marker alpha fetoprotein), although without fibrosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 4, "end": 7}], "disease": [{"text": "fibrosis", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "ErbB2 overexpression also impaired the regression of established RM11A tumors following IGF-IR downregulation and enhanced their metastatic potential.", "output": {"entities": {"gene": [{"text": "IGF", "start": 88, "end": 91}], "disease": [{"text": "regression", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Desmoplastic small round cell tumor (DSRCT) is a primitive sarcoma characterized by a recurrent chromosomal translocation, t (11; 22) (p13; q12), which fuses the 5' exons of the EWS gene to the 3' exons of the WT1 gene.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 178, "end": 186}], "disease": [{"text": "chromosomal translocation", "start": 96, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "There are no effective treatments for fibrosis, an out-of-control wound-healing process in which excessive deposition of extracellular matrix (ECM) such as collagen, resulting in significant morbidity and mortality.", "output": {"entities": {"gene": [{"text": "ECM", "start": 143, "end": 146}], "disease": [{"text": "fibrosis", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The phenotypic characteristics of isolated growth hormone deficiency (IGHD) type IB in humans, such as autosomal recessive inheritance, time of onset of growth retardation, diminished secretion of growth hormone (GH) and IGF-I, proportional reduction in weight and size, and delay in sexual maturation, has much in common with the phenotype of the homozygous little/little (lit/lit) mouse.", "output": {"entities": {"gene": [{"text": "IGHD", "start": 70, "end": 74}], "disease": [{"text": "weight", "start": 254, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "The recent identification of a novel BRCA2 binding protein, EMSY, as a putative oncogene implicates the BRCA2 pathway in sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 37, "end": 42}], "disease": [{"text": "sporadic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The transplantation of EPCs expressing TERT into five out of six subtotal nephrectomy rats was shown to improve renal function, reduce loss of peritubular microvessel, and inhibit progression of renal interstitial fibrosis.", "output": {"entities": {"gene": [{"text": "TERT", "start": 39, "end": 43}], "disease": [{"text": "renal interstitial fibrosis", "start": 195, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that novel C223G and C252X mutations in exon 4 of the WISP3 gene are responsible for PPD in Chinese patients.", "output": {"entities": {"gene": [{"text": "WISP3", "start": 73, "end": 78}], "disease": [{"text": "PPD", "start": 104, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WISP3", "start": 73, "end": 78}, "tail": {"text": "PPD", "start": 104, "end": 107}}]}}, "schema": []}
{"input": "Pure desmoplastic melanomas were either devoid of mutations (50%) or displayed mutations in tumor suppressor genes (TP53, CDKN2A, and SMAD4) singularly or in combination with the exception of a PIK3CA double-mutation lacking established biological relevance.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 194, "end": 200}], "disease": [{"text": "desmoplastic", "start": 5, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "These neurological symptoms may also be due to DST gene mutation, although he has a concomitant diagnosis of CADASIL (cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy), a cerebral small-vessel arteriopathy, which thus complicates the genotype-phenotype interpretation.", "output": {"entities": {"gene": [{"text": "DST gene", "start": 47, "end": 55}], "disease": [{"text": "leukoencephalopathy", "start": 191, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 162, "end": 168}], "disease": [{"text": "smoking", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Meanwhile, we found that the expression of MSH2, MSH6, NUDT1 and XRCC3 were only significantly lower in grade II and III of astrocytoma, and the expression of MRE11A and MUS81 were only significantly lower in grade III and IV.", "output": {"entities": {"gene": [{"text": "MRE11A", "start": 159, "end": 165}], "disease": [{"text": "astrocytoma", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The dramatic decrease in the frequency of finding NSD1 abnormalities in the clinical laboratory is likely because of the heterogeneity of the patient population.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 50, "end": 54}], "disease": [{"text": "abnormalities", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.", "output": {"entities": {"gene": [{"text": "EDA", "start": 18, "end": 21}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 39, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA", "start": 18, "end": 21}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 39, "end": 72}}]}}, "schema": []}
{"input": "Absence of MMP-2 in the host did not alter OvCa adhesion, as determined utilizing mice harboring homozygous null mutations in either the Mmp2 or Mmp9 genes.", "output": {"entities": {"gene": [{"text": "Mmp2", "start": 137, "end": 141}], "disease": [{"text": "adhesion", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to see whether alterations of MYD88 protein expression and somatic mutation of MYD88 gene are features of common solid cancers.", "output": {"entities": {"gene": [{"text": "MYD88 gene", "start": 105, "end": 115}], "disease": [{"text": "somatic mutation", "start": 85, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, previous studies have found that Ets-1-deficient mice develop lupus-like disease characterized by high titers of IgM and IgG autoantibodies, immune complex-mediated glomerulonephritis, and local activation of complement.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 48, "end": 53}], "disease": [{"text": "glomerulonephritis", "start": 180, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of TGF-beta1 expression in human peritoneal mesothelial cells (HPMC) may provide a potential treatment for PF.", "output": {"entities": {"gene": [{"text": "TGF-beta1", "start": 14, "end": 23}], "disease": [{"text": "PF", "start": 118, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF-beta1", "start": 14, "end": 23}, "tail": {"text": "PF", "start": 118, "end": 120}}]}}, "schema": []}
{"input": "After unexplained sporadic first trimester miscarriage, we suggest that measurements be done of the FV mutation, PAI-Fx, and factor VIII, etiologies for sporadic miscarriage.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 125, "end": 136}], "disease": [{"text": "miscarriage", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In various studies of sporadic breast cancers, 40-70% were strongly positive for fragile histidine triad (Fhit) protein expression, whereas only 18% of BRCA2 mutant breast cancers demonstrated strong Fhit expression, suggesting that the BRCA2 repair function may be necessary to retain intact fragile common chromosome fragile site 3B (FRA3B)/FHITloci.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 152, "end": 157}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "This meta-analysis confirms that TNFSF4 polymorphisms are associated with susceptibility to SLE in Asians and Europeans.", "output": {"entities": {"gene": [{"text": "TNFSF4", "start": 33, "end": 39}], "disease": [{"text": "SLE", "start": 92, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFSF4", "start": 33, "end": 39}, "tail": {"text": "SLE", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "To identify whether any mutations of candidate genes including SHH, ZIC2, SIX3, and TGIF exist in a Taiwanese family segregated with holoprosencephaly (HPE) and moyamoya disease.", "output": {"entities": {"gene": [{"text": "ZIC2", "start": 68, "end": 72}], "disease": [{"text": "moyamoya disease", "start": 161, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Among the alleles potentially associated with type 2 diabetes, none negatively influenced surrogate markers of insulin sensitivity in non-diabetic participants, while the minor alleles of UQCRC1 rs2228561 and COX10 rs10521253 showed a weak (p < 0. 01 to p < 0. 05) negative influence on indices of glucose-stimulated insulin secretion.", "output": {"entities": {"gene": [{"text": "UQCRC1", "start": 188, "end": 194}], "disease": [{"text": "type 2 diabetes", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The goal of our study was to determine whether TLR4 played a role as a tumor promoter in sporadic colon cancer.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 47, "end": 51}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In 102 squamous cell carcinomas, high DUSP6 expression was correlated with lower ERK expression, with greater smoking pack-years, but not with the Ki-67 index.", "output": {"entities": {"gene": [{"text": "DUSP6", "start": 38, "end": 43}], "disease": [{"text": "smoking", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "An unenveloped single-stranded DNA virus (TTV) has been reported in association with posttransfusion and acute and chronic hepatitis of unknown etiology.", "output": {"entities": {"gene": [{"text": "TTV", "start": 42, "end": 45}], "disease": [{"text": "chronic hepatitis", "start": 115, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Abeta alone or in combination with hypoxia/ischemia failed to stimulate ABCG2 expression in BBB endothelial cells; however, conditioned media from Abeta-activated microglia strongly induced ABCG2 expression.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 72, "end": 77}], "disease": [{"text": "ischemia", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The emergence of genetically assigned eosinophilias has led the World Health Organization in 2008 to adopt a semi-molecular classification scheme, with one subcategory named' myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1.'", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 245, "end": 251}], "disease": [{"text": "abnormalities", "start": 228, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "We found sequences homologous to retroviral pol genes in the cell-free cerebrospinal fluids (CSFs) of 10 of 35 (29%) individuals with recent-onset schizophrenia or schizoaffective disorder.", "output": {"entities": {"gene": [{"text": "pol", "start": 44, "end": 47}], "disease": [{"text": "schizoaffective disorder", "start": 164, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pol", "start": 44, "end": 47}, "tail": {"text": "schizoaffective disorder", "start": 164, "end": 188}}]}}, "schema": []}
{"input": "A subset of these genes specific to inflammation and cell stress was also induced by dominant negative NRF-1 and by glucose deprivation, suggesting that diverse metabolic insults converge on the same PRC-dependent inflammatory program.", "output": {"entities": {"gene": [{"text": "PRC", "start": 200, "end": 203}], "disease": [{"text": "inflammation", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The effect of FLG null-alleles was strongest for eczema (19% versus 7%, P = 0. 0003; OR 3. 3, 95% CI 1. 7-6. 6) and food allergy (28% versus 8%, P = 0. 0001; OR 4. 5, 95% CI 2. 0-10. 0).", "output": {"entities": {"gene": [{"text": "FLG", "start": 14, "end": 17}], "disease": [{"text": "food allergy", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Last, ASS1 was either low in abundance or absent in more than 60% of 149 random breast cancer biosamples, suggesting that patients with such tumors could be candidates for arginine starvation therapy.", "output": {"entities": {"gene": [{"text": "ASS1", "start": 6, "end": 10}], "disease": [{"text": "breast cancer", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "However, we now report an overall elevation of photoproduct repair in both melanoma groups compared to nonmelanoma controls and conclude that this accounts for the resistant melanoma phenotype, including that of enhanced PRR.", "output": {"entities": {"gene": [{"text": "PRR", "start": 221, "end": 224}], "disease": [{"text": "melanoma", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Enhanced production of CTGF and IL-11 from highly metastatic hepatoma cells under hypoxic conditions: an implication of hepatocellular carcinoma metastasis to bone.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 23, "end": 27}], "disease": [{"text": "hypoxic", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "TLS is carried out by low-fidelity DNA polymerases that replicate across lesions, thereby preventing genome instability at the cost of increased point mutations.", "output": {"entities": {"gene": [{"text": "TLS", "start": 0, "end": 3}], "disease": [{"text": "genome instability", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF)-2578C/A and-460C/T gene polymorphisms and lung cancer risk: a meta-analysis involving 11 case-control studies.", "output": {"entities": {"gene": [{"text": "T gene", "start": 59, "end": 65}], "disease": [{"text": "lung cancer", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Clinical measures included the DI and Health Assessment Questionnaire, and disease variables included the erythrocyte sedimentation rate, C reactive protein, rheumatoid factor, and HLA-DRB1 and DQB1 alleles.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 181, "end": 189}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 106, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a model wherein PTP expression levels may define conditions that select for ectopic FGFR3 expression and activation during tumorigenesis.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 106, "end": 111}], "disease": [{"text": "tumorigenesis", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The other two demonstrated new persistent neurologic deficits postictally; they both carried heterozygous POLG variants (p. Trp748Ser or p. Gly517Val).", "output": {"entities": {"gene": [{"text": "POLG", "start": 106, "end": 110}], "disease": [{"text": "neurologic deficits", "start": 42, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The N-terminal domain of tensin1 associates with protein phosphatase-1alpha (PP1alpha) and mediates PP1alpha localization to adhesions.", "output": {"entities": {"gene": [{"text": "PP1alpha", "start": 77, "end": 85}], "disease": [{"text": "adhesions", "start": 125, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "These alterations were followed by inflammation; release of profibrogenic factors, such as IL-4, insulin-like growth factor 1, and CXCL5; progressive fibrosis; and premature mortality.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 91, "end": 95}], "disease": [{"text": "inflammation", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Tissue of CaP and BPH tissue samples were obtained from formalin-fixed, paraffin-embedded sections by laser-captured microdissection, and then RNA was extracted. mRNA expression of TS, DPD, TP, and OPRT was analyzed by quantitative reverse transcriptase-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "TS", "start": 181, "end": 183}], "disease": [{"text": "CaP", "start": 10, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TS", "start": 181, "end": 183}, "tail": {"text": "CaP", "start": 10, "end": 13}}]}}, "schema": []}
{"input": "Virally mediated overexpression of HDAC2 in frontal cortex decreased mGlu2 transcription and its electrophysiological properties, thereby increasing psychosis-like behavior.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 35, "end": 40}], "disease": [{"text": "psychosis", "start": 149, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 35, "end": 40}, "tail": {"text": "psychosis", "start": 149, "end": 158}}]}}, "schema": []}
{"input": "The height of airway inflammation and hyperresponsiveness was preceded by release of IL-4 and marked reductions in surfactant protein (SP)-B, a hydrophobic surfactant protein responsible for maintaining low surface tension of the lining fluid of distal air spaces.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 85, "end": 89}], "disease": [{"text": "inflammation", "start": 21, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We employed a hypoxic exposure in APP/PS1 transgenic mice and SH-SY5Y cells overexpressing human Swedish mutation APP (APPswe).", "output": {"entities": {"gene": [{"text": "APP", "start": 34, "end": 37}], "disease": [{"text": "hypoxic", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The production and accumulation of mutated Abeta (Asn7-Abeta) or the misfunction of D678N mutant APP may have pathogenic properties for the development of Alzheimer' s disease in this pedigree.", "output": {"entities": {"gene": [{"text": "APP", "start": 97, "end": 100}], "disease": [{"text": "Alzheimer' s disease", "start": 155, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APP", "start": 97, "end": 100}, "tail": {"text": "Alzheimer' s disease", "start": 155, "end": 175}}]}}, "schema": []}
{"input": "However, PAPP-A Tg mice had 70-75% less neointima than WT at 5 and 10 days postligation, with a significant reduction in occlusion of the ligated artery.", "output": {"entities": {"gene": [{"text": "PAPP-A", "start": 9, "end": 15}], "disease": [{"text": "neointima", "start": 40, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in HRAS proto-oncogene cause Costello syndrome.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 22, "end": 26}], "disease": [{"text": "Costello syndrome", "start": 48, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 22, "end": 26}, "tail": {"text": "Costello syndrome", "start": 48, "end": 65}}]}}, "schema": []}
{"input": "The combination of SFN and ClF enhances these effects, resulting in an increase in cell growth arrest and apoptosis at a non-invasive breast cancer stage.", "output": {"entities": {"gene": [{"text": "SFN", "start": 19, "end": 22}], "disease": [{"text": "invasive breast cancer", "start": 125, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We therefore hypothesized that the major genes involved in the SREBP activation of fatty acids and cholesterol production (SREBF1, SREBF2, SCAP, INSIG1 and INSIG2) would be strong candidate genes for interindividual variation in drug-induced weight gain.", "output": {"entities": {"gene": [{"text": "INSIG1", "start": 145, "end": 151}], "disease": [{"text": "weight gain", "start": 242, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Therefore, our data provide no support for the idea that variations in OPRM1, OPRD1, PENK and POMC are associated with alcohol dependence or general illicit drug dependence, but variations in PENK and POMC appear to be associated with the narrower phenotype of opioid dependence in these families.", "output": {"entities": {"gene": [{"text": "PENK", "start": 85, "end": 89}], "disease": [{"text": "drug dependence", "start": 157, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Our study identified twenty genes markedly up-regulated in response to TNFα, including adhesion molecules, cytokines, chemokines, and apoptosis regulators, some of them being identified as TNF-α-inducible genes for the first time in endothelial cells (two apoptosis regulators, TNFAIP3 and TNFRSF10B/Trail R2 (DR5), the chemokines GM-CSF/CSF2 and MCF/CSF1, and CD40 and TNF-α itself, as well as NF-κB components (RELB, NFKB1 or 50/p105 and NFKB2 or p52/p100).", "output": {"entities": {"gene": [{"text": "p105", "start": 431, "end": 435}], "disease": [{"text": "adhesion", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Under conditions in which these ligands are used at the nanomolar range, HU308 and JWH133 enhanced human and mouse breast cancer cell-induced osteoclastogenesis and exacerbated osteolysis, and these effects were attenuated in cultures obtained from CB2-deficient mice or in the presence of a CB2 receptor blocker.", "output": {"entities": {"gene": [{"text": "CB2 receptor", "start": 292, "end": 304}], "disease": [{"text": "osteolysis", "start": 177, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Analysis of p53 gene showed mutation only in one case of mycosis fungoides in tumoral stage, at codon 163 of p53 gene (TAC--> CAC; Tyr--> Asp).", "output": {"entities": {"gene": [{"text": "CAC", "start": 126, "end": 129}], "disease": [{"text": "mycosis fungoides", "start": 57, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to determine the expression of CTGF and hypoxia inducible factors (HIF) in HCC and to clarify its impact on relapse and survival.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 56, "end": 60}], "disease": [{"text": "hypoxia", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Some studies indicate that the Trp64Arg polymorphism in the gene encoding the beta (3)-adrenergic receptor (ADRB3) is associated with obesity, insulin resistance and earlier onset of type 2 diabetes mellitus.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 108, "end": 113}], "disease": [{"text": "insulin resistance", "start": 143, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We present two patients with SMS who have interstitial deletions at 17p11. 2 but are not deleted for currently available commercial FISH probes that include FLII; both patients have deletions that are demonstrated with probes containing the RAI1 gene.", "output": {"entities": {"gene": [{"text": "FLII", "start": 157, "end": 161}], "disease": [{"text": "SMS", "start": 29, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLII", "start": 157, "end": 161}, "tail": {"text": "SMS", "start": 29, "end": 32}}]}}, "schema": []}
{"input": "HMGA2 overexpression was found in 39% of the cases and, interestingly, positively correlated with the body mass index (BMI).", "output": {"entities": {"gene": [{"text": "HMGA2", "start": 0, "end": 5}], "disease": [{"text": "body mass index", "start": 102, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Genetic disorders of BCAA metabolism produce amino acidopathies and various forms of organic aciduria with severe clinical consequences.", "output": {"entities": {"gene": [{"text": "BCAA", "start": 21, "end": 25}], "disease": [{"text": "organic aciduria", "start": 85, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The level of Ets-1 and FOXP3 mRNA was not significantly different in hyperactive and lower active SLE group when compared with inactive SLE group, respectively (P > 0. 05).", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 13, "end": 18}], "disease": [{"text": "hyperactive", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the interactions between alcohol consumption and DNA methylation (CpG1 methylation) of the ADD1 gene promoter have a significant role in modifying EH susceptibility.", "output": {"entities": {"gene": [{"text": "ADD1 gene", "start": 106, "end": 115}], "disease": [{"text": "alcohol consumption", "start": 40, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that the C3F allele is associated with a predisposition to the development of systemic vasculitis and that C3F homozygotes are at particularly high risk.", "output": {"entities": {"gene": [{"text": "C3F", "start": 29, "end": 32}], "disease": [{"text": "systemic vasculitis", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We designed an original DNA probe for detecting NCOA2 split signals on fluorescence in situ hybridization (FISH) and estimated its utility with 20 fibrovascular tumors: 4 each of STAs, solitary fibrous tumors (SFTs), and cellular angiofibromas and 3 each of low-grade myxofibrosarcomas, myxoid liposarcomas, and low-grade fibromyxoid sarcomas.", "output": {"entities": {"gene": [{"text": "FISH", "start": 107, "end": 111}], "disease": [{"text": "angiofibromas", "start": 230, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that lung fibroblasts tend to induce a Th1-type immune response under normal conditions, and that a Th2-type immune response does not play a significant role in smoldering inflammation around the established lesions in IPF and NSIP.", "output": {"entities": {"gene": [{"text": "Th1", "start": 59, "end": 62}], "disease": [{"text": "inflammation", "start": 192, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor receptor 3", "start": 101, "end": 136}], "disease": [{"text": "Hypochondroplasia", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibroblast growth factor receptor 3", "start": 101, "end": 136}, "tail": {"text": "Hypochondroplasia", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "It is suggested that Caspase-3 siRNA may reduce the neurotoxicity induced by aluminum to a certain extent.", "output": {"entities": {"gene": [{"text": "Caspase-3", "start": 21, "end": 30}], "disease": [{"text": "neurotoxicity", "start": 52, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Caspase-3", "start": 21, "end": 30}, "tail": {"text": "neurotoxicity", "start": 52, "end": 65}}]}}, "schema": []}
{"input": "Additional gain-of-function experiments revealed that miR-145 exerts an anti-proliferative effect in the primary, non-invasive melanoma cell line, WM793, whereas cell migration and the invasive potential of metastatic melanoma cells was suppressed following transfection with miR-145 mimics.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 54, "end": 61}], "disease": [{"text": "metastatic melanoma", "start": 207, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Netrin-1 transgene expression was proangiogenic and effectively reduced ischemia/reperfusion injury to preserve global heart function.", "output": {"entities": {"gene": [{"text": "Netrin-1", "start": 0, "end": 8}], "disease": [{"text": "ischemia", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We tested the safety of an angiogenic strategy with CI-1023 (Ad (GV) VEGF121. 10), a replication-deficient adenovirus encoding human vascular endothelial growth factor isoform 121 in patients with CLI as part of a phase I trial.", "output": {"entities": {"gene": [{"text": "CLI", "start": 197, "end": 200}], "disease": [{"text": "adenovirus", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 46, "end": 51}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Their expression correlated with the severity of pancreatic neuritis, fibrosis, intrapancreatic nerve fiber density and hypertrophy, pain, CP duration and with the amount of inflammatory cell infiltrate immuno-positive for CD45 and CD68.", "output": {"entities": {"gene": [{"text": "CD68", "start": 232, "end": 236}], "disease": [{"text": "hypertrophy", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Nurr1 protein in BA 9 was significantly lower in major depression (P & lt; 0. 05) and lower at a trend level in schizophrenia (P = 0. 056) than in the controls.", "output": {"entities": {"gene": [{"text": "Nurr1", "start": 0, "end": 5}], "disease": [{"text": "major depression", "start": 49, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nurr1", "start": 0, "end": 5}, "tail": {"text": "major depression", "start": 49, "end": 65}}]}}, "schema": []}
{"input": "Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.", "output": {"entities": {"gene": [{"text": "LHCGR", "start": 81, "end": 86}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Microarray-based gene expression data unexpectedly demonstrated a significant number of up-or down-regulated immune-and inflammation-related genes, including many well-known interferon (IFN)-induced genes (e. g., IFI44L, PSMB8, IRF5, PSMB10, IFI27, PSB9_HUMAN, IFIT2, TRAIL, IFIT1, PSB8_HUMAN, IRF1, B2M and GBP1), major histocompatibility complex (MHC) class I molecules (e. g., HLA-B, HLA-C, HLA-F and HLA-H) and interleukin (IL)-related genes (e. g., IL20RB, GALT, IL7, IL1B, IL11, IL1F8, IL1A, IL6 and IL7R), which was confirmed by qRT-PCR.", "output": {"entities": {"gene": [{"text": "IFI27", "start": 242, "end": 247}], "disease": [{"text": "inflammation", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Stratifying by amount of smoking, among subjects who consumed > 33. 5 pack-years and carried the SULT1A1 * 1/* 1 or NAT2 slow acetylator genotype, the OR was 1. 73 (95% CI 1. 01-2. 97) whereas it was 7. 31 (95% CI 1. 90-28. 05) in non-smokers who carried the homozygous wild genotype, respectively.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 116, "end": 120}], "disease": [{"text": "smoking", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical detection of the 185-kDa transmembrane glycoprotein product of the proto-oncogene c-erbB-2 (also known as HER-2/neu), located on chromosome 17q21, is a well established method of evaluation in invasive breast cancer.", "output": {"entities": {"gene": [{"text": "transmembrane glycoprotein", "start": 45, "end": 71}], "disease": [{"text": "invasive breast cancer", "start": 213, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Subsequent optimization of the statins for LFA-1 binding resulted in potent, selective and orally active LFA-1 inhibitors that suppress the inflammatory response in a murine model of peritonitis.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 43, "end": 48}], "disease": [{"text": "peritonitis", "start": 183, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report the identification of somatic TSC2 mutations in five of seven angiomyolipomas from sporadic LAM patients.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 55, "end": 59}], "disease": [{"text": "LAM", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSC2", "start": 55, "end": 59}, "tail": {"text": "LAM", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "Recent findings showed that BRCA1, in addition to its role in DNA damage response, acts as an upstream regulator of genes involved in the mitotic checkpoint regulation, thus protecting against promotion of aberrant divisions and aneuploidy.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 28, "end": 33}], "disease": [{"text": "aneuploidy", "start": 229, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "A dominant negative Cx43 mutant differentially affects tumorigenic and invasive properties in human metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 20, "end": 24}], "disease": [{"text": "metastatic melanoma", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.", "output": {"entities": {"gene": [{"text": "ACHE", "start": 54, "end": 58}], "disease": [{"text": "breast cancer", "start": 160, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACHE", "start": 54, "end": 58}, "tail": {"text": "breast cancer", "start": 160, "end": 173}}]}}, "schema": []}
{"input": "However, the precise role of TG6 in contributing to SCA35 remains unclear.", "output": {"entities": {"gene": [{"text": "TG6", "start": 29, "end": 32}], "disease": [{"text": "SCA35", "start": 52, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TG6", "start": 29, "end": 32}, "tail": {"text": "SCA35", "start": 52, "end": 57}}]}}, "schema": []}
{"input": "This work aimed to study methylation at CpG islands within the promoter of the BRCA1 and BRCA2 genes in sporadic ovarian cancers.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 89, "end": 100}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We report a 78-year-old male Finnish patient who presented with ataxia and mainly sensory peripheral polyneuropathy (PNP) signs, causing severe disability and ambulation loss.", "output": {"entities": {"gene": [{"text": "PNP", "start": 117, "end": 120}], "disease": [{"text": "ataxia", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230).", "output": {"entities": {"gene": [{"text": "WISP3", "start": 88, "end": 93}], "disease": [{"text": "progressive pseudorheumatoid dysplasia", "start": 156, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WISP3", "start": 88, "end": 93}, "tail": {"text": "progressive pseudorheumatoid dysplasia", "start": 156, "end": 194}}]}}, "schema": []}
{"input": "Link between GIP and osteopontin in adipose tissue and insulin resistance.", "output": {"entities": {"gene": [{"text": "GIP", "start": 13, "end": 16}], "disease": [{"text": "insulin resistance", "start": 55, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Moreover, C5aR expression was up-regulated following overexpression of sTNFR p55 by adenovirus-based gene transfer.", "output": {"entities": {"gene": [{"text": "C5aR", "start": 10, "end": 14}], "disease": [{"text": "adenovirus", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.", "output": {"entities": {"gene": [{"text": "PON1", "start": 54, "end": 58}], "disease": [{"text": "preterm birth", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The combined roles of these two receptor families in the course of experimental infections have been assessed in MyD88-and IRAK-4-deficient mice for almost fifteen years.", "output": {"entities": {"gene": [{"text": "IRAK", "start": 123, "end": 127}], "disease": [{"text": "infections", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Thus, impaired HSF1 activity emerges as a critical factor underlying the phenotypes linked to aneuploidy.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 15, "end": 19}], "disease": [{"text": "aneuploidy", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is caused by mutations of the autoimmune regulator gene.", "output": {"entities": {"gene": [{"text": "autoimmune regulator", "start": 93, "end": 113}], "disease": [{"text": "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "start": 0, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "autoimmune regulator", "start": 93, "end": 113}, "tail": {"text": "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "start": 0, "end": 62}}]}}, "schema": []}
{"input": "Levels of RANTES mRNA were similar in atopic patients but they were lower in the other two groups of patients when compared with levels in healthy controls.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 10, "end": 16}], "disease": [{"text": "atopic", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Defects in DNA mismatch repair (MMR) are associated with a predisposition to tumorigenesis and with drug resistance owing to high mutation rates and failure to engage DNA-damage-induced apoptosis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 32, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Iodide uptake in a panel of non-prostate tumor cell lines infected with Ad-ARR (2) PB/hNIS was no more than 2, 500 cpm, demonstrating the tissue specificity of this construct.", "output": {"entities": {"gene": [{"text": "NIS", "start": 87, "end": 90}], "disease": [{"text": "Ad-ARR (2", "start": 72, "end": 81}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NIS", "start": 87, "end": 90}, "tail": {"text": "Ad-ARR (2", "start": 72, "end": 81}}]}}, "schema": []}
{"input": "The classifier showed a sensitivity of 89% and specificity of 84% on the validation set of known BRCA2-mutation carriers and sporadic tumor cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 97, "end": 102}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 104, "end": 108}], "disease": [{"text": "Maffucci syndrome", "start": 78, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH1", "start": 104, "end": 108}, "tail": {"text": "Maffucci syndrome", "start": 78, "end": 95}}]}}, "schema": []}
{"input": "We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 × 10 (-24)), CYP1A2 (P = 1 × 10 (-23)), FGF5 (P = 1 × 10 (-21)), SH2B3 (P = 3 × 10 (-18)), MTHFR (P = 2 × 10 (-13)), c10orf107 (P = 1 × 10 (-9)), ZNF652 (P = 5 × 10 (-9)) and PLCD3 (P = 1 × 10 (-8)) genes.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 145, "end": 151}], "disease": [{"text": "diastolic blood pressure", "start": 46, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "A review of the recent literature strongly suggests potential roles for CLU proteins in low dose ionizing radiation (IR)-inducible adaptive responses, bystander effects, and delayed death and genomic instability.", "output": {"entities": {"gene": [{"text": "CLU", "start": 72, "end": 75}], "disease": [{"text": "genomic instability", "start": 192, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Genetic alterations of the MYH gene in gastric cancer.", "output": {"entities": {"gene": [{"text": "MYH", "start": 27, "end": 30}], "disease": [{"text": "gastric cancer", "start": 39, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH", "start": 27, "end": 30}, "tail": {"text": "gastric cancer", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "The frequency of IFN-gamma AA genotype was lower in the patients with genital ulcer.", "output": {"entities": {"gene": [{"text": "IFN", "start": 17, "end": 20}], "disease": [{"text": "genital ulcer", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Cited1 deficiency suppresses intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cited1", "start": 0, "end": 6}], "disease": [{"text": "tumorigenesis", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Flow cytometry was used to determine transduction efficiencies in NP2/CD4/CXCR4 (glioma cell line stably transduced with the HIV receptors) and HeLa/CD4 cell lines.", "output": {"entities": {"gene": [{"text": "NP2", "start": 66, "end": 69}], "disease": [{"text": "glioma", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of hPER1, hPER2, hPER3, hCRY1, hCRY2 and hBMAL1 were significantly impaired in both chronic phase and blastic crisis of CML cases compared with those in healthy individuals (P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "hPER1", "start": 25, "end": 30}], "disease": [{"text": "CML", "start": 142, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hPER1", "start": 25, "end": 30}, "tail": {"text": "CML", "start": 142, "end": 145}}]}}, "schema": []}
{"input": "Particularly SIRT2 gene has been associated with Alzheimer' s disease (AD) as well as with mood disorders.", "output": {"entities": {"gene": [{"text": "SIRT2", "start": 13, "end": 18}], "disease": [{"text": "mood disorders", "start": 91, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT2", "start": 13, "end": 18}, "tail": {"text": "mood disorders", "start": 91, "end": 105}}]}}, "schema": []}
{"input": "Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.", "output": {"entities": {"gene": [{"text": "DLL4", "start": 43, "end": 47}], "disease": [{"text": "Adams-Oliver Syndrome", "start": 54, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DLL4", "start": 43, "end": 47}, "tail": {"text": "Adams-Oliver Syndrome", "start": 54, "end": 75}}]}}, "schema": []}
{"input": "This review tries to survey the expression patterns of inducible transcription factors (ITFs) of the Jun (c-Jun, JunB, JunD) and Fos (c-Fos, FosB, Fra) families as well as of zinc finger proteins (Krox-20 and Krox-24) and their mRNAs following ischemia, epileptic seizures, hypoglycemia, axotomy and (programmed) neuronal death in the mammalian brain.", "output": {"entities": {"gene": [{"text": "FosB", "start": 141, "end": 145}], "disease": [{"text": "hypoglycemia", "start": 274, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "In 18 cases EWS/FLI1 translocation was examined using the FISH method.", "output": {"entities": {"gene": [{"text": "EWS", "start": 12, "end": 15}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "PMN were manipulated in the following four ways: (1) inhibition of oxygen-free radicals using manganese superoxide dismutase and catalase (SOD/CAT), (2) antagonism of PMN elastase using secretory leukocyte protease inhibitor (SLPI), (3) neutropenia using PMN antisera, and (4) inhibition of activation and adhesion using interleukin-1 receptor antagonist (IL-1ra) and tumor necrosis factor binding protein (TNFbp).", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 94, "end": 124}], "disease": [{"text": "neutropenia", "start": 237, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Uninvolved colonic mucosa in FAP patients, control patients, and patients with sporadic tumors did not stain for p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 113, "end": 116}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway.", "output": {"entities": {"gene": [{"text": "PMVK", "start": 206, "end": 210}], "disease": [{"text": "PK", "start": 110, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMVK", "start": 206, "end": 210}, "tail": {"text": "PK", "start": 110, "end": 112}}]}}, "schema": []}
{"input": "Most of the sporadic and BRCA1-and BRCA2-associated cancers displayed an irregular shape (91. 2%, 93. 3%, and 83. 3%, respectively).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 35, "end": 40}], "disease": [{"text": "sporadic", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "IL-13, RANTES (Regulated on Activation, Normal T cells Expressed and Secreted), and cysteinyl leukotrienes are asthma and atopy mediators.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 0, "end": 5}], "disease": [{"text": "atopy", "start": 122, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Transgenic expression of an activated Foxm1 transcript in AECs enhanced radiation-induced pneumonitis and pulmonary fibrosis, and increased the expression of IL-1β, Ccl2, Cxcl5, Snail1, Zeb1, Zeb2 and Foxf1.", "output": {"entities": {"gene": [{"text": "Zeb2", "start": 192, "end": 196}], "disease": [{"text": "pulmonary fibrosis", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Pentoxifylline attenuated proteinuria and nephrinuria through the course, plus inhibition of p-NF-κB p65 (d 1) and p-Smad2/3 (d 5) and partial reversal of downregulated podocyte mRNA and protein.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 95, "end": 100}], "disease": [{"text": "proteinuria", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Of 13 genes related to cellular metabolism, aldolase A (ALDOA), sorbitol dehydrogenase (SORD), transketolase (TKT), and tuberous sclerosis 1 (TSC1) were related to glucose metabolism.", "output": {"entities": {"gene": [{"text": "ALDOA", "start": 56, "end": 61}], "disease": [{"text": "tuberous sclerosis 1", "start": 120, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Galectin-9 (Gal-9) is a β-galactosidase-binding lectin that promotes apoptosis, tissue inflammation, and T cell immune exhaustion, and alters HIV infection in part through engagement with the T cell immunoglobulin mucin domain-3 (Tim-3) receptor and protein disulfide isomerases (PDI).", "output": {"entities": {"gene": [{"text": "PDI", "start": 280, "end": 283}], "disease": [{"text": "inflammation", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Novel assays based on the use of the suicide repair enzyme O6-alkylguanine-DNA-alkyltransferase (AGT) to repair O6-alkylguanine-type adducts in DNA have been used for the analysis of extracts of human biopsy specimens of gastric mucosa, urinary bladder mucosa, colon and circulating lymphocytes.", "output": {"entities": {"gene": [{"text": "AGT", "start": 97, "end": 100}], "disease": [{"text": "suicide", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Given that a history of ethanol intoxication may increase vulnerability to alcohol addiction, we sought to determine whether NPS receptor (NPSR) gene expression is altered during withdrawal.", "output": {"entities": {"gene": [{"text": "NPS", "start": 125, "end": 128}], "disease": [{"text": "alcohol addiction", "start": 75, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPS", "start": 125, "end": 128}, "tail": {"text": "alcohol addiction", "start": 75, "end": 92}}]}}, "schema": []}
{"input": "Recent findings support the \" ADK hypothesis of epileptogenesis \": (i) Mouse models of epileptogenesis suggest a sequence of events leading from initial downregulation of ADK and elevation of ambient adenosine as an acute protective response, to changes in astrocytic adenosine receptor expression, to astrocyte proliferation and hypertrophy (i. e.", "output": {"entities": {"gene": [{"text": "ADK", "start": 30, "end": 33}], "disease": [{"text": "hypertrophy", "start": 330, "end": 341}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined immunohistochemically the CDN in ten patients with clinicopathologically and genetically confirmed DRPLA and the spinal anterior horns in five patients with sporadic ALS, using a monoclonal antibody (1C2) directed against long polyglutamine stretches.", "output": {"entities": {"gene": [{"text": "CDN", "start": 60, "end": 63}], "disease": [{"text": "sporadic", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "p63 is a transcription factor homologous to p53 and p73; mutations in this gene have been identified in individuals with several types of developmental abnormalities, including EEC (ectrodactyly, ectodermal dysplasia, facial clefts) syndrome and split-hand/split-foot malformation (SHFM).", "output": {"entities": {"gene": [{"text": "p63", "start": 0, "end": 3}], "disease": [{"text": "facial clefts", "start": 218, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Multiple infections were more common among women with no (32%) or LSIL (51%) [versus 23% in high-grade SIL/cancer], partially explaining the lack of a dose response using a cumulative HC2 viral load measure.", "output": {"entities": {"gene": [{"text": "HC2", "start": 184, "end": 187}], "disease": [{"text": "infections", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "KDM2A promotes lung tumorigenesis by epigenetically enhancing ERK1/2 signaling.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 62, "end": 66}], "disease": [{"text": "tumorigenesis", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Hepatosplenic T-cell lymphoma (HSTL) is an aggressive lymphoma cytogenetically characterized by isochromosome 7q [i (7) (q10)], of which the molecular consequences remain unknown.", "output": {"entities": {"gene": [{"text": "q10", "start": 121, "end": 124}], "disease": [{"text": "aggressive lymphoma", "start": 43, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "It therefore seems unlikely that such abnormalities of NSD1 are a major culprit in patients with phenotypical SoS.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 55, "end": 59}], "disease": [{"text": "abnormalities", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, amyloid-β (Aβ) soluble oligomers were able to induce upregulation of VDAC1 in a human neuroblastoma cell line, further supporting a correlation between Aβ levels and VDAC1 expression.", "output": {"entities": {"gene": [{"text": "VDAC1", "start": 84, "end": 89}], "disease": [{"text": "amyloid", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.", "output": {"entities": {"gene": [{"text": "KRT9", "start": 88, "end": 92}], "disease": [{"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT9", "start": 88, "end": 92}, "tail": {"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}}]}}, "schema": []}
{"input": "Antisense oligonucleotides (oligos) against transforming growth factor-alpha (TGF-alpha; MR (1)) and its binding site, the epidermal growth factor receptor (EGFR; MR (2)), have proven efficacious against PC-3 and LNCaP prostate tumors when evaluated in both in vitro and in vivo models.", "output": {"entities": {"gene": [{"text": "transforming growth factor-alpha", "start": 44, "end": 76}], "disease": [{"text": "prostate tumors", "start": 219, "end": 234}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "transforming growth factor-alpha", "start": 44, "end": 76}, "tail": {"text": "prostate tumors", "start": 219, "end": 234}}]}}, "schema": []}
{"input": "For tumorigenesis studies of genetically modified adrenocortical cells, we use RAG2 (-/-), gammac (-/-) mice.", "output": {"entities": {"gene": [{"text": "RAG2", "start": 79, "end": 83}], "disease": [{"text": "tumorigenesis", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The CB1 receptor controls spasticity and cross-reactivity to this receptor appears to account for the therapeutic action of some CB2 agonists.", "output": {"entities": {"gene": [{"text": "CB1", "start": 4, "end": 7}], "disease": [{"text": "spasticity", "start": 26, "end": 36}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 4, "end": 7}, "tail": {"text": "spasticity", "start": 26, "end": 36}}]}}, "schema": []}
{"input": "As for viral infections other than CMV, and for bacterial infections, no KIR-linked protective effect could be detected.", "output": {"entities": {"gene": [{"text": "KIR", "start": 73, "end": 76}], "disease": [{"text": "bacterial infections", "start": 48, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Cultured cells treated with PPARgamma ligands demonstrated an increase in Ca (2 +)-independent, carcinoembryonic antigen-dependent homotypic aggregation, suggesting a potential role for PPARgamma in regulating intercellular adhesion.", "output": {"entities": {"gene": [{"text": "carcinoembryonic antigen", "start": 96, "end": 120}], "disease": [{"text": "adhesion", "start": 224, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "RPGRIP1", "start": 64, "end": 71}], "disease": [{"text": "Leber congenital amaurosis", "start": 128, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPGRIP1", "start": 64, "end": 71}, "tail": {"text": "Leber congenital amaurosis", "start": 128, "end": 154}}]}}, "schema": []}
{"input": "We previously reported that hypoxia and restraint during pregnancy sensitized the hypothalamic-pituitary-adrenal (HPA) axis and induced anxiety-like behavior in the adult offspring.", "output": {"entities": {"gene": [{"text": "HPA", "start": 114, "end": 117}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "There were no differences in age, birthweight, blood pressure, body mass index, percent body fat, total energy, percentage of macronutrient intake, microalbumin, leptin, cortisol, adrenocorticotropic hormone, nitric oxide metabolites, C-reactive protein, homocysteine, tumor necrosis factor-α, interleukin-6, von Willebrand factor, vascular cell adhesion molecule-1, plasminogen activator inhibitor-1, and tissue plasminogen activator.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 309, "end": 330}], "disease": [{"text": "blood pressure", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "WAT of HSL-/-mice exhibited a 15-fold increase in necrotic-like adipocyte death and formation of macrophage syncytia, coincident with increased tumor necrosis factor-alpha gene expression.", "output": {"entities": {"gene": [{"text": "HSL", "start": 7, "end": 10}], "disease": [{"text": "necrotic", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 0, "end": 5}], "disease": [{"text": "BPES", "start": 10, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXL2", "start": 0, "end": 5}, "tail": {"text": "BPES", "start": 10, "end": 14}}]}}, "schema": []}
{"input": "HLA-DPB1 glutamate 69: a genetic marker of beryllium disease.", "output": {"entities": {"gene": [{"text": "HLA-DPB1", "start": 0, "end": 8}], "disease": [{"text": "beryllium disease", "start": 43, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLA-DPB1", "start": 0, "end": 8}, "tail": {"text": "beryllium disease", "start": 43, "end": 60}}]}}, "schema": []}
{"input": "The aim of this study was to test the hypothesis that TL1A may play an important role in inflammatory bowel disease (IBD) by functioning as a Th1-polarizing cytokine.", "output": {"entities": {"gene": [{"text": "Th1", "start": 142, "end": 145}], "disease": [{"text": "inflammatory bowel disease", "start": 89, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of SLC26A4 mutations in Pendred' s syndrome is clearly established in many ethnic groups, but the data from Mainland Chinese patients with deafness and EVA remain poor.", "output": {"entities": {"gene": [{"text": "EVA", "start": 167, "end": 170}], "disease": [{"text": "deafness", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "To confirm this association, the distribution of the single-nucleotide polymorphism C677T was investigated in idiopathic infertile Algerian patients with nonobstructive azoospermia (NOA) or severe oligoasthenoteratozoospermia (OAT).", "output": {"entities": {"gene": [{"text": "OAT", "start": 227, "end": 230}], "disease": [{"text": "infertile", "start": 121, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.", "output": {"entities": {"gene": [{"text": "POLR3A", "start": 11, "end": 17}], "disease": [{"text": "Wiedemann-Rautenstrauch Syndrome", "start": 70, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POLR3A", "start": 11, "end": 17}, "tail": {"text": "Wiedemann-Rautenstrauch Syndrome", "start": 70, "end": 102}}]}}, "schema": []}
{"input": "In the present study, we investigated the expression of MLN64 in prostate cancer, another hormone-dependent tumor, and compared its expression with that of CYP17, the gene encoding for the key enzyme of androgen synthesis.", "output": {"entities": {"gene": [{"text": "MLN64", "start": 56, "end": 61}], "disease": [{"text": "prostate cancer", "start": 65, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLN64", "start": 56, "end": 61}, "tail": {"text": "prostate cancer", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "Furthermore, Northern analysis revealed that the ratios of Gq alpha/GAPDH mRNA abundance in both scar and viable tissues from experimental hearts were significantly increased versus controls.", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 68, "end": 73}], "disease": [{"text": "scar", "start": 97, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "A diagnostically difficult case of chronic myeloid neoplasm with eosinophilia and abnormalities of PDGFRA effectively treated with imatinib in accelerated phase: case report.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 99, "end": 105}], "disease": [{"text": "abnormalities", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We show that a gene transfer approach using recombinant adenovirus to express IL-15 and IL-15Rα in murine TRAMP-C2 prostate or TS/A breast tumors induced antitumor immune responses.", "output": {"entities": {"gene": [{"text": "TRAMP", "start": 106, "end": 111}], "disease": [{"text": "breast tumors", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder.", "output": {"entities": {"gene": [{"text": "NPHP1", "start": 27, "end": 32}], "disease": [{"text": "BBS", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHP1", "start": 27, "end": 32}, "tail": {"text": "BBS", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Keratoendotheliitis fugax hereditaria is an autoinflammatory cryopyrin-associated periodic syndrome caused by a missense mutation c. 61G & gt; C in exon 1 of NLRP3 in Finnish patients.", "output": {"entities": {"gene": [{"text": "NLRP3", "start": 158, "end": 163}], "disease": [{"text": "Keratoendotheliitis fugax hereditaria", "start": 0, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NLRP3", "start": 158, "end": 163}, "tail": {"text": "Keratoendotheliitis fugax hereditaria", "start": 0, "end": 37}}]}}, "schema": []}
{"input": "Serial cross-sections of 45 human carotid plaques were immunohistochemically analyzed for the presence of CTGF protein, neovascularization (von Willebrand factor), macrophages (CD68), and T cells (CD3).", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 140, "end": 161}], "disease": [{"text": "neovascularization", "start": 120, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Mutations in RET were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral agenesis.", "output": {"entities": {"gene": [{"text": "RET", "start": 13, "end": 16}], "disease": [{"text": "bilateral renal agenesis", "start": 52, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 13, "end": 16}, "tail": {"text": "bilateral renal agenesis", "start": 52, "end": 76}}]}}, "schema": []}
{"input": "We then screened for this mutation in subcloned NLRP3 amplicons from fibroblasts, buccal cells, granulocytes, negatively selected monocytes, and T and B lymphocytes and further confirmed the somatic mutation by targeted sequencing of exon 3.", "output": {"entities": {"gene": [{"text": "NLRP3", "start": 48, "end": 53}], "disease": [{"text": "somatic mutation", "start": 191, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The results of this study therefore indicate an imbalance in the levels of Th1 and Th2 cytokines at the site of inflammation in RA, and draw attention to the possibility of treatment of progressive or intractable RA with IL-4 and/or IL-10.", "output": {"entities": {"gene": [{"text": "Th1", "start": 75, "end": 78}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "To determine the prevalence of PINK1 mutation in Taiwanese population, we conducted genetic analysis of PINK1 mutation in 73 early onset sporadic PD and 94 normal control subjects.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 31, "end": 36}], "disease": [{"text": "sporadic", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Semiquantitative analysis of Th1 and Th2 cytokine expression in CD3 +, CD4 +, and CD8 + renal-cell-carcinoma-infiltrating lymphocytes.", "output": {"entities": {"gene": [{"text": "CD4", "start": 71, "end": 74}], "disease": [{"text": "carcinoma", "start": 99, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "ARNTL2 and SERPINE1: potential biomarkers for tumor aggressiveness in colorectal cancer.", "output": {"entities": {"gene": [{"text": "SERPINE1", "start": 11, "end": 19}], "disease": [{"text": "aggressiveness", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "NR5A1 is a novel disease gene for 46, XX testicular and ovotesticular disorders of sex development.", "output": {"entities": {"gene": [{"text": "NR5A1", "start": 0, "end": 5}], "disease": [{"text": "ovotesticular disorders of sex development", "start": 56, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR5A1", "start": 0, "end": 5}, "tail": {"text": "ovotesticular disorders of sex development", "start": 56, "end": 98}}]}}, "schema": []}
{"input": "BV6 and TMZ synergistically reduce cell viability and trigger apoptosis in glioblastoma cells (combination index < 0. 4-0. 8), which is accompanied by increased loss of mitochondrial-membrane potential, cytochrome c release, caspase activation and caspase-dependent apoptosis.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 203, "end": 215}], "disease": [{"text": "glioblastoma", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "A collection of 38 paraffin-embedded apparently sporadic carcinoids was investigated, through a combined study, for protein expression/localization of menin, p53, β-catenin and E-cadherin and for mutational analysis of the MEN1, TP53 and CTNNB1 genes.", "output": {"entities": {"gene": [{"text": "TP53", "start": 229, "end": 233}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In addition, treatment of Hbb (th1/th1) mice with RAP-536 reduced α-globin aggregates in peripheral red cells, decreased the elevated reactive oxygen species present in erythroid precursors and peripheral red cells, and alleviated anemia by promoting differentiation of late-stage erythroid precursors and reducing hemolysis.", "output": {"entities": {"gene": [{"text": "th1", "start": 31, "end": 34}], "disease": [{"text": "hemolysis", "start": 315, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "These results confirm that ITGB4 mutations underlie EB-PA and show that missense mutations may lead to nonlethal phenotypes.", "output": {"entities": {"gene": [{"text": "ITGB4", "start": 27, "end": 32}], "disease": [{"text": "EB-PA", "start": 52, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB4", "start": 27, "end": 32}, "tail": {"text": "EB-PA", "start": 52, "end": 57}}]}}, "schema": []}
{"input": "Our findings indicate that activating HRAS, KRAS and EGFR mutations play a major role in the pathogenesis of sporadic SGH.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 53, "end": 57}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "p53 and SCFFbw7 cooperatively restrain cyclin E-associated genome instability.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 39, "end": 47}], "disease": [{"text": "genome instability", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Immunoprecipitation assays confirmed biochemical binding of Ndfip1 with Nedd4-2 in the brain, with or without ischemic stroke, indicating their endogenous interaction.", "output": {"entities": {"gene": [{"text": "Ndfip1", "start": 60, "end": 66}], "disease": [{"text": "ischemic stroke", "start": 110, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.", "output": {"entities": {"gene": [{"text": "WNT7A", "start": 50, "end": 55}], "disease": [{"text": "Schinzel phocomelia syndrome", "start": 108, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT7A", "start": 50, "end": 55}, "tail": {"text": "Schinzel phocomelia syndrome", "start": 108, "end": 136}}]}}, "schema": []}
{"input": "It is notable that ER stress upregulates the potent lipid-mediator sphingosine-1-phosphate (S1P), which explains multiple pathological aberrations observed in rosacea skin.", "output": {"entities": {"gene": [{"text": "S1P", "start": 92, "end": 95}], "disease": [{"text": "rosacea", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.", "output": {"entities": {"gene": [{"text": "SMCHD1", "start": 0, "end": 6}], "disease": [{"text": "Bosma arhinia microphthalmia syndrome", "start": 95, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMCHD1", "start": 0, "end": 6}, "tail": {"text": "Bosma arhinia microphthalmia syndrome", "start": 95, "end": 132}}]}}, "schema": []}
{"input": "Our results clearly showed the significance of RACK1-induced OSCC cell migration, invasion and adhesion, which could explain the underlined mechanism of the effect of the gene on metastasis and clinical outcome.", "output": {"entities": {"gene": [{"text": "RACK1", "start": 47, "end": 52}], "disease": [{"text": "adhesion", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "miR-615-5p is restrictedly expressed in cirrhotic and cancerous liver tissues and its overexpression alleviates the tumorigenic effects in hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "miR-615", "start": 0, "end": 7}], "disease": [{"text": "hepatocellular carcinoma", "start": 139, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-615", "start": 0, "end": 7}, "tail": {"text": "hepatocellular carcinoma", "start": 139, "end": 163}}]}}, "schema": []}
{"input": "Gene expression profile of ECs subjected to heat shock demonstrates that plasminogen activator inhibitor 1 (PAI-1), a protein involved in the control of extracellular matrix degradation, is specifically up-regulated.", "output": {"entities": {"gene": [{"text": "plasminogen activator inhibitor 1", "start": 73, "end": 106}], "disease": [{"text": "shock", "start": 49, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "To explore human epidermal growth factor receptor 2 (HER2) status in the histological phenotypes [metaplasia, intraepithelial neoplasia (IEN, i. e.", "output": {"entities": {"gene": [{"text": "HER2", "start": 53, "end": 57}], "disease": [{"text": "metaplasia", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In addition to literature data on KYN/TRY ratio (IDO activity index), we observe neopterin levels (index of activity of rate-limiting enzyme of guanine-BH4 pathway) to be higher in carriers of high (T) than of low (A) producers alleles; and to correlate with AAMPD markers (e. g., insulin resistance, body mass index, mortality risk), and with IFN-alpha-induced depression in hepatitis C patients.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 344, "end": 353}], "disease": [{"text": "insulin resistance", "start": 281, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Increased NO contributes to the blunted hypoxic pressor response (HPR) during cirrhosis and may induce heme oxygenase-1 (HO-1) expression and carbon monoxide (CO) production, exacerbating the blunted HPR.", "output": {"entities": {"gene": [{"text": "HPR", "start": 66, "end": 69}], "disease": [{"text": "hypoxic", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "CD97, a member of the adhesion family of G-protein-coupled receptors (GPCRs), complexes with and potentiates lysophosphatidic acid (LPA) receptor signaling to the downstream effector RHOA.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 183, "end": 187}], "disease": [{"text": "adhesion", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Six proteins were found to significantly differ among the four treatment groups, with Δ9-THC and ovariectomy (OVX) decreasing the mitochondrial proteins, pyruvate carboxylase and NADH dehydrogenase, whereas the levels of putative cytosolic molecular chaperones NM23B, translationally controlled tumor protein, DJ-1 and activator of heat-shock 90kDa protein ATPase homolog 1 (AHA1) were increased.", "output": {"entities": {"gene": [{"text": "pyruvate carboxylase", "start": 154, "end": 174}], "disease": [{"text": "shock", "start": 337, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "Urotensin II is a highly conserved undecapeptide which is well represented in the nervous system, heart and kidney.", "output": {"entities": {"gene": [{"text": "Urotensin II", "start": 0, "end": 12}], "disease": [{"text": "nervous system", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "A prospective, nonrandomised human subject study was also conducted, in which OPG levels and coronary artery calcification (CAC) were measured in a type 2 diabetes population before and 16 months after the commencement of either insulin or liraglutide treatment and in a control group that took oral hypoglycemics only.", "output": {"entities": {"gene": [{"text": "CAC", "start": 124, "end": 127}], "disease": [{"text": "coronary artery calcification", "start": 93, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In cultured human endothelial cells, Reelin enhanced monocyte adhesion and increased ICAM1, VCAM1, and E-selectin expression by suppressing endothelial nitric oxide synthase (eNOS) activity and increasing nuclear factor κB (NF-κB) activity in an Apoer2-dependent manner.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 224, "end": 229}], "disease": [{"text": "adhesion", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Flow cytometric analysis of CD4 + T cells also demonstrated a decreased frequency of FoxP3 + cells in the BALF and blood of sarcoidosis patients as well as a reduced intensity (mean fluorescence intensity) of FoxP3 expression in BALF FoxP3 + cells of patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 28, "end": 31}], "disease": [{"text": "sarcoidosis", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Metastasis-associated C4. 4A, which becomes upregulated during wound healing and, in some tumors, during tumor progression, is known to be frequently associated with hypoxia.", "output": {"entities": {"gene": [{"text": "C4. 4A", "start": 22, "end": 28}], "disease": [{"text": "hypoxia", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The RAGE exon 3 genotype was assessed by Denaturing Gradient Gel Electrophoresis (DGGE) procedure in 487 type 1 diabetic patients with proliferative retinopathy subdivided into four groups according to their level of renal involvement and in 351 control subjects (GENEDIAB study).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 4, "end": 8}], "disease": [{"text": "proliferative retinopathy", "start": 135, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Blockade of insulin-like growth factor (IGF)-I and IGF-IR by antisense or dominant negative plasmid transfection can suppress tumorigenicity and induce regression of established tumors.", "output": {"entities": {"gene": [{"text": "IGF", "start": 40, "end": 43}], "disease": [{"text": "regression", "start": 152, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 61, "end": 66}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We measured circulating inflammatory and thrombotic markers (C-reactive protein, interleukin-6, monocyte chemoattractant protein 1, intracellular cell adhesion molecule 1, soluble tumor necrosis factor-α receptor 1, and soluble p-selectin) and analyzed TLRs and their association with sex and cardiovascular risk factors by multivariable logit regression model adjusted for confounding factors.", "output": {"entities": {"gene": [{"text": "cell adhesion molecule 1", "start": 146, "end": 170}], "disease": [{"text": "regression", "start": 344, "end": 354}]}, "relations": {}}, "schema": []}
{"input": "Most of the patients over-expressing MDM2 gene had poor prognostic features (including' unfavourable' cytogenetic abnormalities), poor response to chemotherapy and short survival.", "output": {"entities": {"gene": [{"text": "MDM2 gene", "start": 37, "end": 46}], "disease": [{"text": "cytogenetic abnormalities", "start": 102, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "LDL levels in the hyperlipidemia PST group was statistical significant higher (P < 0. 001) and we observed an association between Apo E allelic distribution and LDL (P = 0. 005).", "output": {"entities": {"gene": [{"text": "PST", "start": 33, "end": 36}], "disease": [{"text": "hyperlipidemia", "start": 18, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.", "output": {"entities": {"gene": [{"text": "HEXA", "start": 86, "end": 90}], "disease": [{"text": "TSD", "start": 43, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEXA", "start": 86, "end": 90}, "tail": {"text": "TSD", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "with wild-type GPR10), but did not suppress that of the OLETF strain, indicating that GPR10 is without function and could explain hyperphagia in the OLETF strain.", "output": {"entities": {"gene": [{"text": "GPR10", "start": 15, "end": 20}], "disease": [{"text": "hyperphagia", "start": 130, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The normal function of Omi/HtrA2 in the mitochondria and how its deregulation causes neurodegeneration or premature aging are unknown.", "output": {"entities": {"gene": [{"text": "HtrA2", "start": 27, "end": 32}], "disease": [{"text": "neurodegeneration", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In both cases, IFN-alpha markedly inhibited IL-5 production while it induced mild upregulation of IL-4 and IL-10.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 98, "end": 102}], "disease": [{"text": "mild", "start": 77, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Behcet' s disease (BD), Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis (AAU), and birdshot chorioretinopathy (BCR) are examples of noninfectious forms of uveitis.", "output": {"entities": {"gene": [{"text": "BCR", "start": 123, "end": 126}], "disease": [{"text": "birdshot chorioretinopathy", "start": 95, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Whereas retrovirus-forced expression of WSB1 isoforms 1 and 2 promoted cell growth and sensitized the cells to gemcitabine-and doxorubicin-induced apoptosis, WSB1 isoform 3 expression reduced cell proliferation and enhanced resistance to apoptosis, showing that stress-induced modulation of WSB1 alternative splicing increases resistance to apoptosis of pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "WSB1", "start": 40, "end": 44}], "disease": [{"text": "pancreatic cancer", "start": 354, "end": 371}]}, "relations": {}}, "schema": []}
{"input": "If the diagnostic cutoff value of ANXA2 level was more than 18 ng/mL, the incidence of serum ANXA2 was 86. 96% in the HCC group, 80% in the metastatic liver cancer group, 31. 58% in the liver cirrhosis group, none in the chronic hepatitis or acute hepatitis or normal control group, respectively.", "output": {"entities": {"gene": [{"text": "HCC", "start": 118, "end": 121}], "disease": [{"text": "chronic hepatitis", "start": 221, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "This study investigated whether and how MTA1 mediated cell proliferation, migration, invasion and adhesion in cervical cancer.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 40, "end": 44}], "disease": [{"text": "adhesion", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Further analysis revealed that the role AR plays in adhesion of HCC cells is governed, at least in part, by its ability to up-regulate β1-integrin and activate the PI3K/AKT pathway.", "output": {"entities": {"gene": [{"text": "AKT", "start": 169, "end": 172}], "disease": [{"text": "adhesion", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that susceptibility to HSE was host-strain dependent, as severe, lethal HSE developed after injection of human Herpes simplex type 1 virus (HSV-1) into the whiskers area of DA rats, whereas PVG rats remained completely asymptomatic.", "output": {"entities": {"gene": [{"text": "HSE", "start": 48, "end": 51}], "disease": [{"text": "asymptomatic", "start": 244, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "The third member of the transforming acidic coiled coil-containing gene family, TACC3, maps in 4p16, close to translocation breakpoints in multiple myeloma, and is upregulated in various cancer cell lines.", "output": {"entities": {"gene": [{"text": "TACC3", "start": 80, "end": 85}], "disease": [{"text": "translocation", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of colorectal adenoma with 19 single nucleotide polymorphisms in a range of important proinflammatory (IL1B, IL6, IL8, TNF, and LTA) and anti-inflammatory (IL4, IL10, and IL13) cytokines and other inflammation-related genes (PTGS2 and PPARG) in a case-control study of risk factors for colorectal polyps in which all participants (ages 18-74 years) had undergone colonoscopy or sigmoidoscopy.", "output": {"entities": {"gene": [{"text": "IL4", "start": 188, "end": 191}], "disease": [{"text": "inflammation", "start": 229, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "To investigate this hypothesis, we examined proliferative activity, degree of apoptosis, beta-catenin expression and p53 expression in syndromic and sporadic FGPs.", "output": {"entities": {"gene": [{"text": "p53", "start": 117, "end": 120}], "disease": [{"text": "sporadic", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Calcitonin (CT), a 32 amino acid peptide hormone produced primarily by the thyroid, and its receptor (CTR) are well known for their ability to regulate osteoclast mediated bone resorption and enhance Ca2 + excretion by the kidney.", "output": {"entities": {"gene": [{"text": "CTR", "start": 102, "end": 105}], "disease": [{"text": "bone resorption", "start": 172, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "CHIT expression differed markedly in livers from normal controls and in those from patients with simple steatosis or non-alcoholic steatohepatitis.", "output": {"entities": {"gene": [{"text": "CHIT", "start": 0, "end": 4}], "disease": [{"text": "alcoholic steatohepatitis", "start": 121, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Treatment of K-ras-transformed cells with bortezomib resulted in translocation of MST1 from cytoplasm into the nucleus and an increase of phosphorylated histone H2B and histone H2AX.", "output": {"entities": {"gene": [{"text": "MST1", "start": 82, "end": 86}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "This study implicates Prdm14 as a proto-oncogene involved in lymphoblastic lymphoma formation.", "output": {"entities": {"gene": [{"text": "Prdm14", "start": 22, "end": 28}], "disease": [{"text": "lymphoblastic lymphoma", "start": 61, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Prdm14", "start": 22, "end": 28}, "tail": {"text": "lymphoblastic lymphoma", "start": 61, "end": 83}}]}}, "schema": []}
{"input": "Four male sudden cardiac arrest survivors had intronic variant (rs11720524) in SCN5A gene.", "output": {"entities": {"gene": [{"text": "SCN5A gene", "start": 79, "end": 89}], "disease": [{"text": "sudden cardiac arrest", "start": 10, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Antisense inhibition of ICER significantly enhanced beta-adrenergic hypertrophy, whereas it significantly inhibited beta-adrenergic cardiac myocyte apoptosis, suggesting that endogenous ICER works as an important regulator of cardiac hypertrophy and apoptosis.", "output": {"entities": {"gene": [{"text": "ICER", "start": 24, "end": 28}], "disease": [{"text": "hypertrophy", "start": 68, "end": 79}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ICER", "start": 24, "end": 28}, "tail": {"text": "hypertrophy", "start": 68, "end": 79}}]}}, "schema": []}
{"input": "Fifteen of the 20 genes were methylated in more than one of 21 primary breast cancers in Stages I or II, and especially, those of LOC346978, HOXD11, SIM1, PCDHGB6 and FLJ25161 were methylated in more than 10 cancers.", "output": {"entities": {"gene": [{"text": "SIM1", "start": 149, "end": 153}], "disease": [{"text": "breast cancers", "start": 71, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIM1", "start": 149, "end": 153}, "tail": {"text": "breast cancers", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "Interestingly, there was a relationship between the A2A/β-actin ratio and motor disturbances as assessed with some items of the PANSS, AIMS and SAS scales.", "output": {"entities": {"gene": [{"text": "SAS", "start": 144, "end": 147}], "disease": [{"text": "motor disturbances", "start": 74, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Cellular prion protein (PrP (C)), a copper-binding glycosyl-phosphatidylinositol (GPI)-anchored membrane protein that is expressed predominantly in neurons can be induced in ischemia/hypoxic brain tissues.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 9, "end": 22}], "disease": [{"text": "ischemia", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The finding of this study is the association of the Thr54/Ala54 and Thr54/Thr54 FABP2 phenotypes with higher levels of C-reactive protein without relation to insulin resistance.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 119, "end": 137}], "disease": [{"text": "insulin resistance", "start": 158, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.", "output": {"entities": {"gene": [{"text": "Ccdc103", "start": 23, "end": 30}], "disease": [{"text": "primary ciliary dyskinesia", "start": 77, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Ccdc103", "start": 23, "end": 30}, "tail": {"text": "primary ciliary dyskinesia", "start": 77, "end": 103}}]}}, "schema": []}
{"input": "1. TREM-1 gene expression was increased in the monocytes of SCZ and BD patients and tended to be increased in the monocytes of MDD patients. 2.", "output": {"entities": {"gene": [{"text": "TREM-1", "start": 3, "end": 9}], "disease": [{"text": "SCZ", "start": 60, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TREM-1", "start": 3, "end": 9}, "tail": {"text": "SCZ", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 63, "end": 69}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 171, "end": 201}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 63, "end": 69}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 171, "end": 201}}]}}, "schema": []}
{"input": "Our study indicates that metastatic breast cancer cells in the bone microenvironment attached to type I collagen, which stimulated integrins α1β1 and α2β1, via FAK and p38 MAPK pathways, to induce MMP13 expression and further osteolysis.", "output": {"entities": {"gene": [{"text": "MMP13", "start": 197, "end": 202}], "disease": [{"text": "osteolysis", "start": 226, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Our study was aimed at investigating the effects of hypoxia and CCN2 on chordoma cells, using the human U-CH1 cell line.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The findings of this study suggest that the NAT2 slow acetylator haplotype, female sex, and smoking are important determinants of susceptibility to ADRs induced by anti-TB drugs.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 44, "end": 48}], "disease": [{"text": "smoking", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "To explain the discrepancy between the frequent occurrence of disease-associated somatically mutated CD5 + B cells and the low incidence or absence of somatic mutation in normal CD5 + B cells, we speculate that CD5 + B cells usually do not participate in germinal center reactions, but if they occasionally do so, they may be at an increased risk to become involved in autoimmune diseases or B cell malignancies.", "output": {"entities": {"gene": [{"text": "CD5", "start": 101, "end": 104}], "disease": [{"text": "autoimmune diseases", "start": 369, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "Also, under a hypoxic condition, which is a typical environment of tumor tissue, Cx32 suppressed hypoxia-induced Src activation, and PP1 enhanced cytotoxicity in Caki-1T.", "output": {"entities": {"gene": [{"text": "PP1", "start": 133, "end": 136}], "disease": [{"text": "hypoxia", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Clinical features in the four CDH11 mutation-positive individuals confirm the established core phenotype of EWS.", "output": {"entities": {"gene": [{"text": "CDH11", "start": 30, "end": 35}], "disease": [{"text": "EWS", "start": 108, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDH11", "start": 30, "end": 35}, "tail": {"text": "EWS", "start": 108, "end": 111}}]}}, "schema": []}
{"input": "S100B rs9722 C & gt; T polymorphism appears not to be an important factor in susceptibility to MDD in a Chinese population.", "output": {"entities": {"gene": [{"text": "S100B", "start": 0, "end": 5}], "disease": [{"text": "MDD", "start": 95, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 0, "end": 5}, "tail": {"text": "MDD", "start": 95, "end": 98}}]}}, "schema": []}
{"input": "The fusion oncoproteins in many other translocation-associated sarcomas incorporate transcription factors from the ATF/cAMP response element binding or E26 families, which potentially form heterodimers with ATF2 to regulate transcription.", "output": {"entities": {"gene": [{"text": "ATF2", "start": 207, "end": 211}], "disease": [{"text": "sarcomas", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of specific NF 1 gene transcripts in sporadic pilocytic astrocytomas.", "output": {"entities": {"gene": [{"text": "NF 1 gene", "start": 26, "end": 35}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.", "output": {"entities": {"gene": [{"text": "Brd4", "start": 50, "end": 54}], "disease": [{"text": "cyst", "start": 63, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.", "output": {"entities": {"gene": [{"text": "PDHA1", "start": 24, "end": 29}], "disease": [{"text": "pyruvate dehydrogenase complex deficiency", "start": 63, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDHA1", "start": 24, "end": 29}, "tail": {"text": "pyruvate dehydrogenase complex deficiency", "start": 63, "end": 104}}]}}, "schema": []}
{"input": "Using models of placental hypoxia, pharmacological inhibition of HIF-1α with chetomin and shRNA knockdown and overexpression of NFAT5 were performed to investigate the roles of HIF-1α and NFAT5 in induction of Hsp70 by placental hypoxia.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 210, "end": 215}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Additionally, in a cohort of 17 patients with isolated intrauterine and postnatal growth retardation, we detected a further patient to be carrier of a CSH1 deletion.", "output": {"entities": {"gene": [{"text": "CSH1", "start": 151, "end": 155}], "disease": [{"text": "postnatal growth retardation", "start": 72, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression analysis revealed that the CC genotype of the rs11720524 polymorphism in the SCN5A gene encoding a subunit of the cardiac voltage-gated sodium channel occurred more frequently in the highly heterogeneous cardiac death cohort compared to the control population (p = 0. 019, odds ratio: 1. 351).", "output": {"entities": {"gene": [{"text": "SCN5A gene", "start": 97, "end": 107}], "disease": [{"text": "cardiac death", "start": 224, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "As these studies concerned sporadic cancer cases, we investigated whether N372H and another common variant located in the 5'-untranslated region (203G > A) of the BRCA2 gene modify breast or ovarian cancer risk in BRCA1 mutation carriers.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 163, "end": 173}], "disease": [{"text": "sporadic", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "To gain further understanding of how Hsa21 contributes to hematopoietic abnormalities, we examined the Tc1 mouse model of DS, which carries an almost complete freely segregating copy of Hsa21, and is the most complete model of DS available.", "output": {"entities": {"gene": [{"text": "Tc1", "start": 103, "end": 106}], "disease": [{"text": "abnormalities", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Treatment of glioma cell lines with 5-aza-2'-deoxycytidine and trichostatin A resulted in increased expression of AMOG and APOD transcripts.", "output": {"entities": {"gene": [{"text": "APOD", "start": 123, "end": 127}], "disease": [{"text": "glioma", "start": 13, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOD", "start": 123, "end": 127}, "tail": {"text": "glioma", "start": 13, "end": 19}}]}}, "schema": []}
{"input": "The overall pattern of the identified pathological characteristics suggests a carcinogenic pathway in BRCA1-and BRCA2-related breast cancers different from that found in sporadic cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 112, "end": 117}], "disease": [{"text": "sporadic", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 29, "end": 34}], "disease": [{"text": "breast cancer", "start": 51, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 29, "end": 34}, "tail": {"text": "breast cancer", "start": 51, "end": 64}}]}}, "schema": []}
{"input": "Only AOM-treated Chrm3 (-/-) mice developed ascites and had reduced survival compared with AOM-treated wild-type controls.", "output": {"entities": {"gene": [{"text": "Chrm3", "start": 17, "end": 22}], "disease": [{"text": "ascites", "start": 44, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Chrm3", "start": 17, "end": 22}, "tail": {"text": "ascites", "start": 44, "end": 51}}]}}, "schema": []}
{"input": "Nuclear membranous localization of ABCC2 was associated with response to first-line chemotherapy at primary (P = 0. 0013) and secondary surgery (P = 0. 0060).", "output": {"entities": {"gene": [{"text": "ABCC2", "start": 35, "end": 40}], "disease": [{"text": "secondary", "start": 126, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We assessed the ability of FTS to reverse the transformed phenotype of neurofibromatosis type 1 (NF1)-associated tumor cell lines of malignant peripheral nerve sheath tumor (MPNST).", "output": {"entities": {"gene": [{"text": "FTS", "start": 27, "end": 30}], "disease": [{"text": "neurofibromatosis type 1", "start": 71, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Haplotypes that included DDX39B (-22C > G and-348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels.", "output": {"entities": {"gene": [{"text": "ACT", "start": 195, "end": 198}], "disease": [{"text": "mild", "start": 112, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.", "output": {"entities": {"gene": [{"text": "FOXC1", "start": 51, "end": 56}], "disease": [{"text": "Axenfeld-Rieger syndrome", "start": 0, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXC1", "start": 51, "end": 56}, "tail": {"text": "Axenfeld-Rieger syndrome", "start": 0, "end": 24}}]}}, "schema": []}
{"input": "These genes included SELP, CCL2, and matrix metalloproteinase 3, which are involved in extravasation and adhesion of inflammatory cells.", "output": {"entities": {"gene": [{"text": "matrix metalloproteinase 3", "start": 37, "end": 63}], "disease": [{"text": "adhesion", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The gene encoding beta2-AR (ADRB2) displays a moderate degree of heterogeneity in the human population and the distributions of single-nucleotide polymorphisms (SNPs) at amino acid positions 16, 27, and 164 are changed in asthma, obesity, and hypertension and in the autoimmune disease myasthenia gravis.", "output": {"entities": {"gene": [{"text": "beta2", "start": 18, "end": 23}], "disease": [{"text": "myasthenia gravis", "start": 286, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein levels of complex I subunits NDUFV1, NDUFV2 and NADUFS1, were assessed in striatal and lateral cerebellar hemisphere postmortem specimens and analyzed together with our previous data from prefrontal and parieto-occipital cortices specimens of patients with schizophrenia, bipolar disorder, major depression and healthy subjects.", "output": {"entities": {"gene": [{"text": "NDUFV2", "start": 54, "end": 60}], "disease": [{"text": "major depression", "start": 307, "end": 323}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDUFV2", "start": 54, "end": 60}, "tail": {"text": "major depression", "start": 307, "end": 323}}]}}, "schema": []}
{"input": "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).", "output": {"entities": {"gene": [{"text": "KIF5A", "start": 23, "end": 28}], "disease": [{"text": "SPG10", "start": 73, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF5A", "start": 23, "end": 28}, "tail": {"text": "SPG10", "start": 73, "end": 78}}]}}, "schema": []}
{"input": "Taken together, these data unravel FABP4 as a potential target of pathologic airway remodeling in asthma.", "output": {"entities": {"gene": [{"text": "FABP4", "start": 35, "end": 40}], "disease": [{"text": "airway remodeling", "start": 77, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Conversely, using NDGA, it was found that a shunt of AA from the LOX to the COX pathway did not occur.", "output": {"entities": {"gene": [{"text": "LOX", "start": 65, "end": 68}], "disease": [{"text": "shunt", "start": 44, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to investigate the relationship of polymorphism of IL-1RN and IL-4, two important biomarkers of inflammation, with the risk of T2DM.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 80, "end": 84}], "disease": [{"text": "inflammation", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Hypertrophic Cardiomyopathy (HCM) is a common primary cardiac disorder defined by a hypertrophied left ventricle, is one of the main causes of sudden death in young athletes, and has been associated with mutations in most sarcomeric proteins (tropomyosin, troponin T and I, and actin, etc.).", "output": {"entities": {"gene": [{"text": "troponin T", "start": 256, "end": 266}], "disease": [{"text": "cardiac disorder", "start": 54, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Moreover, rolipram significantly potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 116, "end": 120}], "disease": [{"text": "hyperalgesia", "start": 45, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 116, "end": 120}, "tail": {"text": "hyperalgesia", "start": 45, "end": 57}}]}}, "schema": []}
{"input": "The classical paradigm of liver injury asserts that hepatic stellate cells (HSC) produce, remodel and turnover the abnormal extracellular matrix (ECM) of fibrosis via matrix metalloproteinases (MMPs).", "output": {"entities": {"gene": [{"text": "ECM", "start": 146, "end": 149}], "disease": [{"text": "fibrosis", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of the endogenous inhibitor of MMP-9, tissue inhibitor of metalloproteinase 1, and translocation of the transcription factor nuclear factor-κΒ in tumors may have an appreciable role in the overexpression of MMP-9.", "output": {"entities": {"gene": [{"text": "tissue inhibitor of metalloproteinase 1", "start": 53, "end": 92}], "disease": [{"text": "translocation", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Prediction of mRNA and protein secondary structures revealed that two changes lead to putative structural alterations in the mutated c. 2254C > G CDK5R1 3' UTR and in OMG T408A gene product.", "output": {"entities": {"gene": [{"text": "OMG", "start": 167, "end": 170}], "disease": [{"text": "secondary", "start": 31, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The allele frequency in these patients was C3S 0. 71, C3F 0. 29 (expected C3S 0. 8, C3F 0. 19; chi-squared = 5. 1, P < 0. 025), with the average relative risk for the development of systemic vasculitis associated with the presence of a C3F allele being 2. 6.", "output": {"entities": {"gene": [{"text": "C3F", "start": 54, "end": 57}], "disease": [{"text": "systemic vasculitis", "start": 182, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "DR2, DR9, and DRB1 * 0103 were positively associated with ulcerative colitis, and a negative association was found for DR4 and ulcerative colitis.", "output": {"entities": {"gene": [{"text": "DR4", "start": 119, "end": 122}], "disease": [{"text": "ulcerative colitis", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Notably, Setleis syndrome patients and Twist2 knockout mice have similar facial features, indicating the gene' s conserved role in mammalian development.", "output": {"entities": {"gene": [{"text": "Twist2", "start": 39, "end": 45}], "disease": [{"text": "Setleis syndrome", "start": 9, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Twist2", "start": 39, "end": 45}, "tail": {"text": "Setleis syndrome", "start": 9, "end": 25}}]}}, "schema": []}
{"input": "Increased APLP1 expression and neurodegeneration in the frontal cortex of manganese-exposed non-human primates.", "output": {"entities": {"gene": [{"text": "APLP1", "start": 10, "end": 15}], "disease": [{"text": "neurodegeneration", "start": 31, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The GSTT1, GSTT2B and GSTP1 variants were genotyped in 562 OSCC cases and 907 controls, and tested for association with OSCC and for interaction with smoking and alcohol consumption.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 22, "end": 27}], "disease": [{"text": "alcohol consumption", "start": 162, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "The frequency of the whole haplotype Cw5, B18, BfF1, DR3 and of its segment BfF1, DR3, and the strength of the gametic associations between these alleles were much higher in IDD patients than in non-diabetic controls, irrespective of the age of onset of their diabetes.", "output": {"entities": {"gene": [{"text": "B18", "start": 42, "end": 45}], "disease": [{"text": "diabetes", "start": 260, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of Rac1, induced by transfecting adenovirus vectors encoding dominant-negative Rac1 into the NTS, decreased blood pressure, heart rate, and urinary norepinephrine excretion in SHRSPs but not in Wistar-Kyoto rats.", "output": {"entities": {"gene": [{"text": "NTS", "start": 104, "end": 107}], "disease": [{"text": "adenovirus", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "ALK gene amplified in most inflammatory breast cancers.", "output": {"entities": {"gene": [{"text": "ALK", "start": 0, "end": 3}], "disease": [{"text": "inflammatory breast cancers", "start": 27, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALK", "start": 0, "end": 3}, "tail": {"text": "inflammatory breast cancers", "start": 27, "end": 54}}]}}, "schema": []}
{"input": "We describe here a systematic analysis of the EPM2A and the NHLRC1 gene sequences in 20 LD families from the Indian population.", "output": {"entities": {"gene": [{"text": "NHLRC1", "start": 60, "end": 66}], "disease": [{"text": "LD", "start": 88, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NHLRC1", "start": 60, "end": 66}, "tail": {"text": "LD", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "CONCLUSIONS: Our results suggest that the codon 72 SNP which results in amino acid substitution of Arginine to Proline in cell cycle regulatory gene P53, is associated with sporadic CRC risk and carriers of Pro/Pro genotype and more than 50 years old may have high susceptibility.", "output": {"entities": {"gene": [{"text": "gene P53", "start": 144, "end": 152}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "PKCtheta induced c-Rel activity and target gene expression and promoted growth of c-Rel-and c-RelxCK2alpha-driven mouse mammary tumor-derived cell lines.", "output": {"entities": {"gene": [{"text": "c-Rel", "start": 17, "end": 22}], "disease": [{"text": "mammary tumor", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The relationship between CDP and PKU, both of which can cause short statue and mental retardation, is discussed.", "output": {"entities": {"gene": [{"text": "CDP", "start": 25, "end": 28}], "disease": [{"text": "mental retardation", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Increased CD4 + and CD8 + cells in peripheral blood combined with preemptive therapy may reduce the incidence of pneumonia among patients with CMV viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 10, "end": 13}], "disease": [{"text": "viremia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Considering that nerve growth factor exerts beneficial effects in the treatment of major central and peripheral neurodegenerative diseases, skin and corneal ulcers, we asked whether nerve growth factor could also exert a role in Cyclosporine A-induced graft nephrotoxicity.", "output": {"entities": {"gene": [{"text": "nerve growth factor", "start": 17, "end": 36}], "disease": [{"text": "corneal ulcers", "start": 149, "end": 163}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "nerve growth factor", "start": 17, "end": 36}, "tail": {"text": "corneal ulcers", "start": 149, "end": 163}}]}}, "schema": []}
{"input": "We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene.", "output": {"entities": {"gene": [{"text": "ND6", "start": 133, "end": 136}], "disease": [{"text": "LHON", "start": 61, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND6", "start": 133, "end": 136}, "tail": {"text": "LHON", "start": 61, "end": 65}}]}}, "schema": []}
{"input": "The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 81, "end": 86}], "disease": [{"text": "sporadic", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "These results indicate for the first time that hypercholesterolemia may be associated with MLCK expression and activity through which endothelial permeability is increased.", "output": {"entities": {"gene": [{"text": "MLCK", "start": 91, "end": 95}], "disease": [{"text": "hypercholesterolemia", "start": 47, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLCK", "start": 91, "end": 95}, "tail": {"text": "hypercholesterolemia", "start": 47, "end": 67}}]}}, "schema": []}
{"input": "Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 68, "end": 72}], "disease": [{"text": "Behr syndrome", "start": 12, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 68, "end": 72}, "tail": {"text": "Behr syndrome", "start": 12, "end": 25}}]}}, "schema": []}
{"input": "IFN-alpha exerts beneficial therapeutic effects in chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia, resulting in control of hematopoietic hyperplasia and, in a minority of patients, in induction of cytogenetic remission.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 0, "end": 9}], "disease": [{"text": "hyperplasia", "start": 168, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.", "output": {"entities": {"gene": [{"text": "CRX", "start": 8, "end": 11}], "disease": [{"text": "cone-rod dystrophy", "start": 72, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRX", "start": 8, "end": 11}, "tail": {"text": "cone-rod dystrophy", "start": 72, "end": 90}}]}}, "schema": []}
{"input": "We investigated HIV-1 replication in CD14 (+) monocytes and resting and activated CD4 (+) T cells by measuring the levels of cell-associated viral DNA and mRNA and the genetic evolution of HIV-1 in seven acutely infected patients whose plasma viremia had been < 100 copies/ml for 803 to 1, 544 days during highly active antiretroviral therapy (HAART).", "output": {"entities": {"gene": [{"text": "CD4", "start": 82, "end": 85}], "disease": [{"text": "viremia", "start": 243, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "CMV vector and VACM-1 cDNA stably transfected T47D breast cancer-derived cells were treated with resveratrol and cell growth and VACM-1 protein concentrations were measured.", "output": {"entities": {"gene": [{"text": "VACM-1", "start": 15, "end": 21}], "disease": [{"text": "breast cancer", "start": 51, "end": 64}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "VACM-1", "start": 15, "end": 21}, "tail": {"text": "breast cancer", "start": 51, "end": 64}}]}}, "schema": []}
{"input": "Reverse transcription-polymerase chain reaction (RT-PCR) analysis revealed that hTR and TPI mRNA were expressed in more than 80% of ovarian cancers, LPM, ovarian cysts and even in normal ovaries.", "output": {"entities": {"gene": [{"text": "TPI", "start": 88, "end": 91}], "disease": [{"text": "ovarian cysts", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Since transgene expression via replication-deficient adenovirus vectors in vivo is low, we have also engineered a conditionally replicating E1A-CR2 deleted adenovirus to express mutant CD40L, resulting in significant amplification of ligand expression and consequent enhancement of its therapeutic effect.", "output": {"entities": {"gene": [{"text": "CR2", "start": 144, "end": 147}], "disease": [{"text": "adenovirus", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The major findings regarding the genetics of stress response and stress-related disorders are: (i) variations in genes involved in the sympathetic system or in the hypothalamic-pituitary-adrenocortical axis are associated with altered stress responses; (ii) genes related to the renin-angiotensin-aldosterone system or inflammation/immune response show associations with cardiovascular disorders; (iii) genes involved in monoaminergic neurotransmitter systems are associated with bipolar disorder and unipolar depression.", "output": {"entities": {"gene": [{"text": "renin", "start": 279, "end": 284}], "disease": [{"text": "bipolar disorder", "start": 480, "end": 496}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 279, "end": 284}, "tail": {"text": "bipolar disorder", "start": 480, "end": 496}}]}}, "schema": []}
{"input": "ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.", "output": {"entities": {"gene": [{"text": "ISPD", "start": 0, "end": 4}], "disease": [{"text": "Walker-Warburg syndrome", "start": 79, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ISPD", "start": 0, "end": 4}, "tail": {"text": "Walker-Warburg syndrome", "start": 79, "end": 102}}]}}, "schema": []}
{"input": "CONCLUSION: The genetic variants that regulate estimated GFR in the general population tend to have similar effects in patients with Type 2 diabetes and in this latter population, it is important to adjust for albuminuria status while investigating the genetic determinants of renal function.", "output": {"entities": {"gene": [{"text": "GFR", "start": 57, "end": 60}], "disease": [{"text": "albuminuria", "start": 210, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Therefore, CARM1 is an important positive modulator of Wnt/β-catenin transcription and neoplastic transformation, and may thereby represent a novel target for therapeutic intervention in cancers involving aberrantly activated Wnt/β-catenin signaling.", "output": {"entities": {"gene": [{"text": "CARM1", "start": 11, "end": 16}], "disease": [{"text": "neoplastic transformation", "start": 87, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have different significance levels among subgroups: short-segment (S-HSCR, corrP = 1. 71 × 10 (-5)), long-segment (L-HSCR, corrP = 6. 66 × 10 (-4)), and total colonic aganglionosis (TCA, corrP > 0. 05).", "output": {"entities": {"gene": [{"text": "RASGEF1A", "start": 49, "end": 57}], "disease": [{"text": "total colonic aganglionosis", "start": 242, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "There is a mutually synergistic effect between smoking, alcohol consumption, and CYP1B1 gene polymorphisms regarding laryngeal cancer.", "output": {"entities": {"gene": [{"text": "CYP1B1 gene", "start": 81, "end": 92}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Since astrocytomas are the most frequently occurring glioma, we have shown here that U87 cells-a well-established, human astrocytoma cell line-express both HGF and c-Met, thereby providing a suitable astrocytic tumor model for studying the potential role of HGF, functioning in an autocrine mode, in astrocytic tumorigenesis.", "output": {"entities": {"gene": [{"text": "U87", "start": 85, "end": 88}], "disease": [{"text": "astrocytic tumor", "start": 200, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Absence of the wild-type allele (192 base pairs) of a polymorphism in the promoter region of the IGF-I gene but not a polymorphism in the insulin gene variable number of tandem repeat locus is associated with accelerated weight gain in infancy.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 97, "end": 102}], "disease": [{"text": "weight gain", "start": 221, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Through modulating Fis1/Drp1 complex availability, our studies identify Siah2 as a key regulator of hypoxia-induced mitochondrial fission and its physiological significance in ischemic injury and nematode life span.", "output": {"entities": {"gene": [{"text": "Fis1", "start": 19, "end": 23}], "disease": [{"text": "hypoxia", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Here, we aimed to investigate DBC1 mRNA and protein levels in human adipose tissue from subjects with a wide spectrum of fat mass (cohort 1; n = 105) and insulin resistance (cohort 2; n = 47); we also investigated the effects of DBC1 knockdown on 3T3-L1 adipocyte differentiation.", "output": {"entities": {"gene": [{"text": "DBC1", "start": 30, "end": 34}], "disease": [{"text": "insulin resistance", "start": 154, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Hybridization identified 11 hypoxia-induced genes: 1 involved with cell cycle control (CCNG2), 6 in stress response (IGFBP3, SLC2A3, GSTT2, FOS, DDIT3, AKR1C3), and 2 newly connected genes (Depp, AKAP4).", "output": {"entities": {"gene": [{"text": "FOS", "start": 140, "end": 143}], "disease": [{"text": "hypoxia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "CEA has been involved in vitro in adhesion mechanisms, but little is known about the function of this glycoprotein in vivo in normal tissue differentiation and malignancy.", "output": {"entities": {"gene": [{"text": "CEA", "start": 0, "end": 3}], "disease": [{"text": "adhesion", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We have now investigated the expression of this gene in 64 colorectal carcinomas, 31 adenomas and 13 polyps in comparison with their matrix tissues by applying molecular (RNA analysis) and immunohistochemical (pS2 antibody) techniques.", "output": {"entities": {"gene": [{"text": "pS2", "start": 210, "end": 213}], "disease": [{"text": "polyps", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "It may be that genetically determined IL1RA levels influence survival from septic shock.", "output": {"entities": {"gene": [{"text": "IL1RA", "start": 38, "end": 43}], "disease": [{"text": "septic shock", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Twenty-eight out of forty-seven cases of parosteal osteosarcoma showed nuclear IGF2 and IMP3 expression, nine showed cytoplasmic IGF2 and IMP3 expression simultaneously.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 88, "end": 92}], "disease": [{"text": "parosteal osteosarcoma", "start": 41, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p. C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML.", "output": {"entities": {"gene": [{"text": "CBL", "start": 88, "end": 91}], "disease": [{"text": "uniparental disomy", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "Deep vein thrombosis occurring on treatment of patients receiving thalidomide with erythropoietin.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 83, "end": 97}], "disease": [{"text": "Deep vein thrombosis", "start": 0, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "erythropoietin", "start": 83, "end": 97}, "tail": {"text": "Deep vein thrombosis", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "Clinical chemistry and tissue pathology analyses showed that adenoviral EC-SOD gene transfer significantly attenuated release of liver enzymes and inhibited necrosis and apoptosis caused by paracetamol overdose.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 72, "end": 78}], "disease": [{"text": "necrosis", "start": 157, "end": 165}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EC-SOD", "start": 72, "end": 78}, "tail": {"text": "necrosis", "start": 157, "end": 165}}]}}, "schema": []}
{"input": "We propose that the mutation in VEGFC is causative for the Milroy disease-like phenotype seen in this family.", "output": {"entities": {"gene": [{"text": "VEGFC", "start": 32, "end": 37}], "disease": [{"text": "Milroy disease", "start": 59, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VEGFC", "start": 32, "end": 37}, "tail": {"text": "Milroy disease", "start": 59, "end": 73}}]}}, "schema": []}
{"input": "Zebrafish cfap53 mutants have specific defects in organ laterality and randomization of asymmetric gene expression.", "output": {"entities": {"gene": [{"text": "cfap53", "start": 10, "end": 16}], "disease": [{"text": "laterality", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Depletion of geminin led to overreplication and the formation of giant nuclei in cells that had wild-type or mutant p53.", "output": {"entities": {"gene": [{"text": "geminin", "start": 13, "end": 20}], "disease": [{"text": "giant", "start": 65, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our results show significantly (p < 0. 001) higher expression of CCR9 by mucinous adenocarcinoma, papillary serous carcinoma, and endometriod ovarian carcinoma cases, than compared to non-neoplastic ovarian tissue.", "output": {"entities": {"gene": [{"text": "CCR9", "start": 65, "end": 69}], "disease": [{"text": "mucinous adenocarcinoma", "start": 73, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The occurrence of APP duplication in probands from 25 families with FAD and 11 sporadic EO-AD cases in the Japanese population was examined by quantitative PCR and microarray-based comparative genomic hybridisation analyses.", "output": {"entities": {"gene": [{"text": "FAD", "start": 68, "end": 71}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Pituitary may be normal or enlarged at MRI which may be difficult to interpret especially in MEN1 patients where the association of a microprolactinoma to a pancreatic tumor secreting GHRH may be misleading.", "output": {"entities": {"gene": [{"text": "MRI", "start": 39, "end": 42}], "disease": [{"text": "microprolactinoma", "start": 134, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We examined 124 untreated primary breast cancer patients comprising 100 sporadic and 24 familial cases including 56 age-matched healthy controls for the presence of BRCA1, BRCA2 and the p53 gene mutations using PCR-SSCP and direct nucleotide sequencing.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 172, "end": 177}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein B is important in the metabolism of lipoproteins and there is an evidence suggesting that this apolipoprotein plays a central role in atherogenesis.", "output": {"entities": {"gene": [{"text": "Apolipoprotein B", "start": 0, "end": 16}], "disease": [{"text": "atherogenesis", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Cyclin A was the only independent predictor of high-risk HPV (odds ratio, 1. 09; 95% confidence interval, 1. 01-1. 18; P = 0. 021), exceeding the predictive power of CIN grade and high-grade squamous intraepithelial lesion Papanicolaou smears.", "output": {"entities": {"gene": [{"text": "Cyclin A", "start": 0, "end": 8}], "disease": [{"text": "high-grade squamous intraepithelial lesion", "start": 180, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the high level of p43 was observed in the foam cells of atherosclerotic lesions.", "output": {"entities": {"gene": [{"text": "p43", "start": 33, "end": 36}], "disease": [{"text": "foam cells", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Of those, the 25 downregulated proteins, which include 14-3-3ζ, eukaryotic translation initiation factor 5A (EIF5A), and annexin A4, may be downstream targets of miR-7, a finding that could elucidate some aspects of the behavior of glioma cells at the protein level.", "output": {"entities": {"gene": [{"text": "annexin A4", "start": 121, "end": 131}], "disease": [{"text": "glioma", "start": 232, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c. 118_125del, p. (Thr40Glyfs * 11) and a c. 352 + 1G & #8201; & gt; & #8201; T in IFT27, which encodes a small GTPase component of the IFT-B complex.", "output": {"entities": {"gene": [{"text": "IFT27", "start": 273, "end": 278}], "disease": [{"text": "polydactyly", "start": 96, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IFT27", "start": 273, "end": 278}, "tail": {"text": "polydactyly", "start": 96, "end": 107}}]}}, "schema": []}
{"input": "These two antibodies in combo with BRAF/MEK inhibitors potently inhibit in vitro cell growth and tumor regrowth after drug withdrawal in an in vivo xenograft model.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 35, "end": 39}], "disease": [{"text": "drug withdrawal", "start": 118, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "To assay functional activity of PPR + UTR and 5'-UTR regions that either contain or lack the \" amyloid \" box, we tested nine constructs in transient transfection studies.", "output": {"entities": {"gene": [{"text": "UTR", "start": 38, "end": 41}], "disease": [{"text": "amyloid", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Very recently, mutations in the PORCN gene were demonstrated to cause FDH.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 32, "end": 37}], "disease": [{"text": "FDH", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PORCN", "start": 32, "end": 37}, "tail": {"text": "FDH", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "In conclusion, our data suggest that SCF (FBXO28) plays an important role in transmitting CDK activity to MYC function during the cell cycle, emphasizing the CDK-FBXO28-MYC axis as a potential molecular drug target in MYC-driven cancers, including breast cancer.", "output": {"entities": {"gene": [{"text": "FBXO28", "start": 42, "end": 48}], "disease": [{"text": "cancers", "start": 229, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "By contrast, the pro-survival members Bcl-2 and Bcl-xl were both downregulated in severe sepsis (p < 0. 001 and p < 0. 05, respectively).", "output": {"entities": {"gene": [{"text": "Bcl-xl", "start": 48, "end": 54}], "disease": [{"text": "severe sepsis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Demyelinating neuropathy is a clinical clue to the presence of SCARB2 mutations in PME.", "output": {"entities": {"gene": [{"text": "SCARB2", "start": 63, "end": 69}], "disease": [{"text": "neuropathy", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Four HCC cell lines, 54 HCCs, 42 cirrhotic livers, 21 livers with chronic hepatitis, and 15 normal control tissues were analyzed for 1) SFRP1 promoter methylation by using methylation-specific polymerase chain reaction analysis and bisulfite sequencing, 2) SFRP1 messenger RNA expression by using quantitative reverse transcriptase-polymerase chain reaction analysis, and 3) loss of heterozygosity (LOH) by using microsatellite markers flanking the SFRP1 locus.", "output": {"entities": {"gene": [{"text": "HCC", "start": 5, "end": 8}], "disease": [{"text": "chronic hepatitis", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The ADAS-cog15 was the primary efficacy measure; function, cognition, behavior, and quality of life were assessed as secondary measures; cerebral atrophy in MRI and the levels of tau, amyloid-β, and BACE1 in cerebrospinal fluid (CSF) were exploratory endpoints.", "output": {"entities": {"gene": [{"text": "BACE1", "start": 199, "end": 204}], "disease": [{"text": "cerebral atrophy", "start": 137, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The present findings suggest that decorin and thrombospondin-1 may participate in the development of tubulointerstitial fibrosis and may have some relation with TGF-beta1 in mercuric chloride-treated BN rats.", "output": {"entities": {"gene": [{"text": "decorin", "start": 34, "end": 41}], "disease": [{"text": "fibrosis", "start": 120, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "decorin", "start": 34, "end": 41}, "tail": {"text": "fibrosis", "start": 120, "end": 128}}]}}, "schema": []}
{"input": "Treatment with CHK1 inhibitors during acute or prolonged hypoxia (< 0. 03%, 0. 2%, and 1% O2; 3 h or 20-24 h) gave similar effects on cell survival as treatment with these inhibitors during normoxia.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 15, "end": 19}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "No APP gene mutations were found in any of the FAD families or sporadic-AD samples examined in this study, suggesting that the mutations in exons 16 and 17 are a rare cause of FAD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 47, "end": 50}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these findings suggest that the disruption of CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity underlies the selective susceptibility to & #946;-HPVs of EV patients.", "output": {"entities": {"gene": [{"text": "CIB1", "start": 60, "end": 64}], "disease": [{"text": "EV", "start": 65, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CIB1", "start": 60, "end": 64}, "tail": {"text": "EV", "start": 65, "end": 67}}]}}, "schema": []}
{"input": "Removal of the genetic and environmental correlation parameters resulted in significantly worse fitting models for GAD, phobias, MDD, AN, and BN, which suggested that there was significant shared liability between each of these phenotypes and caffeine tolerance.", "output": {"entities": {"gene": [{"text": "GAD", "start": 115, "end": 118}], "disease": [{"text": "caffeine", "start": 243, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "A feasible explanation for the focal nature of events in PKD1, proposed on the basis of the two-hit theory, suggests that cystogenesis results from the inactivation of the normal copy of the PKD1 gene by a second somatic mutation.", "output": {"entities": {"gene": [{"text": "PKD1 gene", "start": 191, "end": 200}], "disease": [{"text": "hit", "start": 96, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Intragenic deletion within the p53 deoxyribonucleic acid binding domain is uncommon in sporadic tumors but would be entirely consistent with misrepair of a radiation-induced double-strand deoxyribonucleic acid break in this case.", "output": {"entities": {"gene": [{"text": "p53", "start": 31, "end": 34}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Oxygen free radicals may play a pivotal role in the mitochondrial signaling pathway of apoptotic cell death in hippocampal CA1 neurons after global ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 123, "end": 126}], "disease": [{"text": "ischemia", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.", "output": {"entities": {"gene": [{"text": "beta-mannosidase", "start": 92, "end": 108}], "disease": [{"text": "beta-mannosidosis", "start": 47, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-mannosidase", "start": 92, "end": 108}, "tail": {"text": "beta-mannosidosis", "start": 47, "end": 64}}]}}, "schema": []}
{"input": "Our findings thus suggest that the elevation of RTP801 we detect in PD substantia nigral neurons may mediate their degeneration and death and that RTP801 and its signaling cascade may be novel potential therapeutic targets for the disease.", "output": {"entities": {"gene": [{"text": "RTP801", "start": 48, "end": 54}], "disease": [{"text": "PD", "start": 68, "end": 70}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "RTP801", "start": 48, "end": 54}, "tail": {"text": "PD", "start": 68, "end": 70}}]}}, "schema": []}
{"input": "High risk individuals, having elevated EBV IgA and viral load, showed high frequency of methylation of CDH13, DAPK1, DLC1 and CADM1, but low frequency of methylation of p16 and WIF1 and undetectable methylation of RASSF1A, CHFR, RIZ1 and RASSF2A.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 214, "end": 221}], "disease": [{"text": "viral load", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Results MCM5 protein was expressed in the lower layers of epidermis in psoriasis, while MCM5 protein were present throughout the tumor cells in BP, BD, and moderately/poorly differentiated SCC.", "output": {"entities": {"gene": [{"text": "MCM5", "start": 8, "end": 12}], "disease": [{"text": "psoriasis", "start": 71, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "LOX expression correlates with the level of tissue hypoxia, and it is known to play a critical role in breast cancer metastasis.", "output": {"entities": {"gene": [{"text": "LOX", "start": 0, "end": 3}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the effects of HYDAMTIQ, a potent PARP-1 inhibitor, in a murine model of lung fibrosis.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 65, "end": 71}], "disease": [{"text": "lung fibrosis", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 65, "end": 71}, "tail": {"text": "lung fibrosis", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "The aim of the present study was to evaluate the association of dopaminergic gene variants with emotion dysregulation (EMD) and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism spectrum disorder (ASD).", "output": {"entities": {"gene": [{"text": "EMD", "start": 119, "end": 122}], "disease": [{"text": "autism spectrum disorder", "start": 202, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Duodenal CCK and jejunal substance P, somatostatin, and VIP and ileal substance P and somatostatin were significantly decreased in rats with acinar atrophy.", "output": {"entities": {"gene": [{"text": "VIP", "start": 56, "end": 59}], "disease": [{"text": "atrophy", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether smoking is associated with mutations in the Von Hippel-Lindau (VHL) gene in 337 cases of sporadic renal cell carcinoma (RCC) among 120 852 people followed for 11. 3 years; the findings suggest that smoking causes RCC independently of VHL gene mutations.", "output": {"entities": {"gene": [{"text": "VHL gene", "start": 258, "end": 266}], "disease": [{"text": "smoking", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.", "output": {"entities": {"gene": [{"text": "NPHP3", "start": 27, "end": 32}], "disease": [{"text": "adolescent nephronophthisis", "start": 40, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHP3", "start": 27, "end": 32}, "tail": {"text": "adolescent nephronophthisis", "start": 40, "end": 67}}]}}, "schema": []}
{"input": "Furthermore, inhibition of multiple but not single cytokines by treatment with siRNA against multiple cytokines or NF-kappaB significantly attenuated CLP-induced AT (1)-receptor downregulation and prevented septic circulatory failure.", "output": {"entities": {"gene": [{"text": "CLP", "start": 150, "end": 153}], "disease": [{"text": "circulatory failure", "start": 214, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "In susceptible individuals beryllium (Be)-exposure may cause Be-hypersensitivity (BH), leading to a spectrum of immune abnormalities ranging from the systemic responsiveness to Be to the CD4 + T-cell dominated chronic granulomatous pneumonitis known as berylliosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 187, "end": 190}], "disease": [{"text": "hypersensitivity", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG).", "output": {"entities": {"gene": [{"text": "DICER1", "start": 38, "end": 44}], "disease": [{"text": "Sertoli-Leydig cell tumor", "start": 241, "end": 266}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DICER1", "start": 38, "end": 44}, "tail": {"text": "Sertoli-Leydig cell tumor", "start": 241, "end": 266}}]}}, "schema": []}
{"input": "To achieve HCC-restricted replication of oncolytic adenovirus, we generated Ad5WS2, an E1B-55 kDa-deleted adenovirus with its E1A gene driven by the liver-specific transthyretin promoter.", "output": {"entities": {"gene": [{"text": "HCC", "start": 11, "end": 14}], "disease": [{"text": "adenovirus", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to investigate the effects of Zn on the airway inflammation and the generation of eotaxin, monocyte chemoattractant protein-1 (MCP-1), interleukin-8 (IL-8), interleukin-4 (IL-4), and interferon-γ (IFN-γ) in rat models of ovalbumin (OVA)-induced allergic airway inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 197, "end": 201}], "disease": [{"text": "inflammation", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "This study evaluated whether apolipoprotein A1 (ApoA1) protects against ongoing fibrosis and promotes the resolution of established experimental lung silicosis.", "output": {"entities": {"gene": [{"text": "ApoA1", "start": 48, "end": 53}], "disease": [{"text": "fibrosis", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "To mechanistically link KCa3. 1 expression to glioma invasion, we selected patient gliomas that, when propagated as xenolines in vivo, present with either high or low KCa3. 1 expression.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 167, "end": 174}], "disease": [{"text": "gliomas", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Mesangial cell hypertrophy and p8 induction both require activation of the ERK, JNK/SAPK and PI-3-K pathways.", "output": {"entities": {"gene": [{"text": "JNK", "start": 80, "end": 83}], "disease": [{"text": "hypertrophy", "start": 15, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Considering the overexpression of mRNA, it was tentatively suggested that LY6E, TACSTD1, and CD44 proteins may act as surface markers for sorting pancreatic cancer stem cells with fluorescence-activated cell sorter/magnetic-activated cell sorter.", "output": {"entities": {"gene": [{"text": "TACSTD1", "start": 80, "end": 87}], "disease": [{"text": "pancreatic cancer", "start": 146, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TACSTD1", "start": 80, "end": 87}, "tail": {"text": "pancreatic cancer", "start": 146, "end": 163}}]}}, "schema": []}
{"input": "New understanding in the pathogenesis of adrenoneuropathy (ANP), formerly called adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AML), has led to greater awareness of the disease with resultant increase in the number of new cases being diagnosed.", "output": {"entities": {"gene": [{"text": "ANP", "start": 59, "end": 62}], "disease": [{"text": "adrenoleukodystrophy", "start": 81, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In this study, hemizygous hypermethylation or genomic sequence abnormalities of the promoter region of NSD1 were hypothesized to be the underlying cause in patients with a SoS phenotype, but without confirmed NSD1 alterations.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 103, "end": 107}], "disease": [{"text": "abnormalities", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Genetically, the tumors expressed the EWS/FLI-1 chimeric transcript, derived from the t (11; 22) (q24; q12) chromosomal translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 38, "end": 41}], "disease": [{"text": "chromosomal translocation", "start": 108, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in mice, intrasplenic injection of IDO + leukemia/lymphoma A20 cells induces the expansion of bona fide T (reg) cells by conversion of CD4 + CD25-T cells; this effect is counteracted by 1-MT treatment.", "output": {"entities": {"gene": [{"text": "CD4", "start": 145, "end": 148}], "disease": [{"text": "leukemia", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Interleukin 6 (IL6) and Estrogen Receptor alpha (ESR1) polymorphisms were assessed in conjunction with smoking.", "output": {"entities": {"gene": [{"text": "IL6", "start": 15, "end": 18}], "disease": [{"text": "smoking", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "These associations were not statistically significant in the total study population, but a statistically significant interaction between smoking and NAT2 acetylator status was present in postmenopausal women.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 149, "end": 153}], "disease": [{"text": "smoking", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Serum-and glucocorticoid-induced protein kinase 1 (SGK1) is regulated by store-operated Ca2 + entry and mediates cytoprotection against necrotic cell death.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 88, "end": 91}], "disease": [{"text": "necrotic cell death", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis revealed a translocation involving nucleoporin 98 (NUP98) fused to the DNA-binding domain of the hematopoietically expressed homeobox gene (HHEX).", "output": {"entities": {"gene": [{"text": "NUP98", "start": 70, "end": 75}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "T cell chemotaxis to sphingosine 1-phosphate (S1P) and the chemokines CCL21 and CCL5 was studied in ten adults with T lymphocytopenia, other immunological abnormalities (nine of ten), and frequent bacterial infections (seven of ten).", "output": {"entities": {"gene": [{"text": "S1P", "start": 46, "end": 49}], "disease": [{"text": "abnormalities", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We previously demonstrated an association between the insulin-like growth factor 2 (IGF2) gene 3'-untranslated region (3'-UTR) ApaI polymorphism and body mass index (BMI) in over 2500 middle-aged Caucasoid males.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 84, "end": 88}], "disease": [{"text": "body mass index", "start": 149, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.", "output": {"entities": {"gene": [{"text": "APOB", "start": 108, "end": 112}], "disease": [{"text": "blood pressure", "start": 206, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "In established hypertension, elevated CRP was associated with increased BP, BMI, insulin, HOMA (index of insulin resistance), leptin, triglycerides and norepinephrine.", "output": {"entities": {"gene": [{"text": "CRP", "start": 38, "end": 41}], "disease": [{"text": "insulin resistance", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We addressed the question of whether the C-174G IL-6 polymorphism contributes to variation of insulin sensitivity.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 48, "end": 52}], "disease": [{"text": "insulin sensitivity", "start": 94, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that activation of FGFR3 can cooperate with other mutations to drive tumorigenesis in a context-dependent manner, and support the hypothesis that activation of FGFR3 signaling contributes to human cancer.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 42, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The complete sequence of the ATM gene product provides useful clues to the function of this protein, and furthers understanding of the pleiotropic nature of the A-T mutations.", "output": {"entities": {"gene": [{"text": "ATM", "start": 29, "end": 32}], "disease": [{"text": "A-T", "start": 161, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 29, "end": 32}, "tail": {"text": "A-T", "start": 161, "end": 164}}]}}, "schema": []}
{"input": "Molecular analysis of the URO-synthase gene in seven unrelated CEP patients revealed eight novel mutations.", "output": {"entities": {"gene": [{"text": "URO-synthase", "start": 26, "end": 38}], "disease": [{"text": "CEP", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "URO-synthase", "start": 26, "end": 38}, "tail": {"text": "CEP", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "Inherited GIF deficiency produces B12 deficiency unrelated with gastritis.", "output": {"entities": {"gene": [{"text": "B12", "start": 34, "end": 37}], "disease": [{"text": "gastritis", "start": 64, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Thus, DEFA5, DEFA6, MMP7, IL8 and SPP1 consist in a valuable panel of biomarkers, whose detection can be used in early detection and progressive disease and also in prognostic of colon cancer.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 34, "end": 38}], "disease": [{"text": "colon cancer", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Once in the nucleus, NF-κB would contribute to cell survival and invasion under hypoxia, by maintaining RAGE and P2X7R expression levels and matrix metalloproteinases 2 and 9 synthesis.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 104, "end": 108}], "disease": [{"text": "hypoxia", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We present the first molecular study of the HGD gene in Jordanian alkaptonuria patients.", "output": {"entities": {"gene": [{"text": "HGD", "start": 44, "end": 47}], "disease": [{"text": "alkaptonuria", "start": 66, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGD", "start": 44, "end": 47}, "tail": {"text": "alkaptonuria", "start": 66, "end": 78}}]}}, "schema": []}
{"input": "The results suggest that expression of PINCH may be involved in the tumourigenesis and aggressiveness of colorectal cancers.", "output": {"entities": {"gene": [{"text": "PINCH", "start": 39, "end": 44}], "disease": [{"text": "aggressiveness", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrated that TGF-β1 increased the formation of autophagic vacuoles, LC3 expression, and phosphorylation of PI3K, Akt and mTOR in scrambled siRNA transfected HK2 cells compared to control cells, which was reversed in KCa3. 1 siRNA transfected HK2 cells.", "output": {"entities": {"gene": [{"text": "HK2", "start": 174, "end": 177}], "disease": [{"text": "autophagic vacuoles", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Five months after the discontinuation of therapy, the patient presented mixed leukemia (CD10, CD19, CD13 and CD33 were positive) with t (9; 11) (p21; q23) translocation.", "output": {"entities": {"gene": [{"text": "CD13", "start": 100, "end": 104}], "disease": [{"text": "translocation", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In contrast, MVMi did not complete its life cycle in any of the human nervous cells, though it efficiently killed the astrocytic tumor cells by two types of nonproductive infections: (i) normal synthesis of all viral macromolecules with a late defect in infectious virion maturation and release to the medium in U373; and (ii) high levels of accumulation of the full set of viral messenger RNAs and of both nonstructural (NS-1) and structural (VP-1 and VP-2) proteins, under a very low viral DNA amplification, in U87 and SW1088 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 514, "end": 517}], "disease": [{"text": "astrocytic tumor", "start": 118, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene.", "output": {"entities": {"gene": [{"text": "EVA", "start": 83, "end": 86}], "disease": [{"text": "enlargement", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association among XRCC1 polymorphisms, smoking, drinking and the risk of prostate cancer (PCa) in men from Han, Southern China.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 37, "end": 42}], "disease": [{"text": "smoking", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Although TGIF is present in the smooth muscle cells of the leiomyoma and the myometrium, it is not found in the extracellular matrix.", "output": {"entities": {"gene": [{"text": "TGIF", "start": 9, "end": 13}], "disease": [{"text": "leiomyoma", "start": 59, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Although recipients in the NC were on average 3 years older [mean (SD): 50. 3 (14. 6) vs. 47. 4 (16. 0), P = 0. 038] and had a higher mean body mass index [24. 5 (3. 6) vs. 23. 5 (3. 8) kg/m (2), P = 0. 003], a significantly lower incidence of both PTDM (13%) and IGT/IFG (18%) was observed in the NC (P < 0. 001) as compared to the HC.", "output": {"entities": {"gene": [{"text": "IFG", "start": 268, "end": 271}], "disease": [{"text": "body mass index", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Exogenous BDNF prevented dopaminergic neurodegeneration, and the neuroprotective effect of Am80 was suppressed by a TrkB inhibitor, K252a, or by anti-BDNF neutralizing antibody.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 10, "end": 14}], "disease": [{"text": "neurodegeneration", "start": 38, "end": 55}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BDNF", "start": 10, "end": 14}, "tail": {"text": "neurodegeneration", "start": 38, "end": 55}}]}}, "schema": []}
{"input": "In contrast, we obtained significant evidence for linkage or systolic blood pressure, but not diastolic blood pressure, to a genetic region at or near the lipoprotein lipase (LPL) locus on the short arm of chromosome 8 (P = 0. 002, n = 125 sib-pairs, for the haplotype generated from two simple sequence repeat markers within the LPL gene).", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 330, "end": 338}], "disease": [{"text": "diastolic blood pressure", "start": 94, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the information suggested that GSE could be potentially used as an angiogenic inhibitor in both solid tumour and leukaemia therapy.", "output": {"entities": {"gene": [{"text": "GSE", "start": 47, "end": 50}], "disease": [{"text": "leukaemia", "start": 129, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on the HA-1 ribonucleic acid expression by microdissected carcinoma tissues and by single disseminated tumor cells isolated from patients with various epithelial tumors.", "output": {"entities": {"gene": [{"text": "HA-1", "start": 23, "end": 27}], "disease": [{"text": "carcinoma", "start": 74, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The ADH1C * 2/* 2/MTHFR 677TT genotype combination showed the maximum risk (odds ratio 20; 95% CI = 13. 45-26. 64) in the heavy drinker group.", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 4, "end": 9}], "disease": [{"text": "heavy drinker", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADH1C", "start": 4, "end": 9}, "tail": {"text": "heavy drinker", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "These results show that uPA is one of the downstream target genes induced by constitutively activated RelA in human pancreatic tumor cells, and suggests that constitutive RelA activity may play a critical role in tumor invasion and metastasis.", "output": {"entities": {"gene": [{"text": "uPA", "start": 24, "end": 27}], "disease": [{"text": "pancreatic tumor", "start": 116, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "uPA", "start": 24, "end": 27}, "tail": {"text": "pancreatic tumor", "start": 116, "end": 132}}]}}, "schema": []}
{"input": "CISD2 expression was significantly upregulated in cervical cancer cells at both the mRNA and protein levels.", "output": {"entities": {"gene": [{"text": "CISD2", "start": 0, "end": 5}], "disease": [{"text": "cervical cancer", "start": 50, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Aurora kinase A promotes inflammation and tumorigenesis in mice and human gastric neoplasia.", "output": {"entities": {"gene": [{"text": "Aurora kinase A", "start": 0, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In the HBV-HCV group, patients with HCC were significantly older (p = 0. 000), had longer disease duration (p = 0. 001), higher blood glucose levels (p = 0. 001), lower levels of steatosis (p = 0. 02), higher levels of fibrosis (p = 0. 000), higher HCV RNA (p = 0. 01) than those without HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 36, "end": 39}], "disease": [{"text": "fibrosis", "start": 219, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Two additional cases were heterozygous for de novo missense mutations in PRKAR1A, which encodes the cAMP-dependent regulatory subunit of protein kinase A and which has been recently reported to be the cause of a form of acrodysostosis resistant to multiple hormones.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 73, "end": 80}], "disease": [{"text": "acrodysostosis", "start": 220, "end": 234}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRKAR1A", "start": 73, "end": 80}, "tail": {"text": "acrodysostosis", "start": 220, "end": 234}}]}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "CDH13", "start": 110, "end": 115}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH13", "start": 110, "end": 115}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "Previous studies among Moroccan Jewish TSD families identified three HEXA mutations.", "output": {"entities": {"gene": [{"text": "HEXA", "start": 69, "end": 73}], "disease": [{"text": "TSD", "start": 39, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEXA", "start": 69, "end": 73}, "tail": {"text": "TSD", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "Hyperalgesia induced by both PLA (2) s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B (2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (IL-1).", "output": {"entities": {"gene": [{"text": "IL-1", "start": 278, "end": 282}], "disease": [{"text": "Hyperalgesia", "start": 0, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1", "start": 278, "end": 282}, "tail": {"text": "Hyperalgesia", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "These findings reveal a calcium-and cAMP-PKA-independent signaling cascade and suggest a role for JAK2-STAT3 transduction in & #945; 4 & #946; 2-mediated attenuation of LPS-induced inflammation.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 98, "end": 102}], "disease": [{"text": "inflammation", "start": 181, "end": 193}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "JAK2", "start": 98, "end": 102}, "tail": {"text": "inflammation", "start": 181, "end": 193}}]}}, "schema": []}
{"input": "The apparent Michaelis-Menten constant (Km) for ADP and maximal respiratory rate (Vm) values were calculated for the characterization of the affinity of mitochondria for exogenous ADP: normal colon tissue displayed low affinity (Km = 260 ± 55 μM) whereas the affinity of tumor mitochondria was significantly higher (Km = 126 ± 17 μM).", "output": {"entities": {"gene": [{"text": "ADP", "start": 48, "end": 51}], "disease": [{"text": "tumor", "start": 271, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "HMOX1", "start": 169, "end": 174}], "disease": [{"text": "SCA17", "start": 179, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMOX1", "start": 169, "end": 174}, "tail": {"text": "SCA17", "start": 179, "end": 184}}]}}, "schema": []}
{"input": "The minor (rare) allele for SHP 512G > C (rs6659176) was associated with increased hip circumference.", "output": {"entities": {"gene": [{"text": "SHP", "start": 28, "end": 31}], "disease": [{"text": "hip circumference", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.", "output": {"entities": {"gene": [{"text": "AIPL1", "start": 98, "end": 103}], "disease": [{"text": "retinal degeneration", "start": 67, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Birt-Hogg-Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts, spontaneous pneumothorax, and kidney neoplasms.", "output": {"entities": {"gene": [{"text": "MIM", "start": 32, "end": 35}], "disease": [{"text": "kidney neoplasms", "start": 191, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Here we show that the expression of S100B is significantly reduced in BDV-infected brains despite severe astrocytosis with increased glial fibrillary acidic protein immunoreactivity.", "output": {"entities": {"gene": [{"text": "S100B", "start": 36, "end": 41}], "disease": [{"text": "astrocytosis", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis.", "output": {"entities": {"gene": [{"text": "beta2", "start": 29, "end": 34}], "disease": [{"text": "nasal polyposis", "start": 95, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Novel compound heterozygous nonsense mutations R518X/Q530X in the C-terminus of KCNQ1 were identified in both affected dizygotic twins; both the parents and a sibling each carried only one of the mutant alleles and were asymptomatic with modestly prolonged QTc intervals (0. 46, 0. 50, and 0. 45 seconds, respectively).", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 80, "end": 85}], "disease": [{"text": "asymptomatic", "start": 220, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Heterotrimers composed of B cell CLL/lymphoma 10 (BCL10), mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1), and caspase recruitment domain-containing (CARD) family adaptors play a role in NF-κB activation and have been shown to be involved in both the innate and the adaptive arms of immunity in murine models.", "output": {"entities": {"gene": [{"text": "BCL10", "start": 50, "end": 55}], "disease": [{"text": "arms", "start": 302, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "The treatment of ADH patients with 1α-hydroxylated vitamin D derivatives can cause hypercalciuria leading to nephrocalcinosis.", "output": {"entities": {"gene": [{"text": "ADH", "start": 17, "end": 20}], "disease": [{"text": "hypercalciuria", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We have identified multiple cases and families with mono-allelic mutations in the first plant homeodomain (PHD1) zinc finger of AIRE that followed dominant inheritance, typically characterized by later onset, milder phenotypes, and reduced penetrance compared to classical APS-1.", "output": {"entities": {"gene": [{"text": "AIRE", "start": 128, "end": 132}], "disease": [{"text": "APS-1", "start": 273, "end": 278}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 128, "end": 132}, "tail": {"text": "APS-1", "start": 273, "end": 278}}]}}, "schema": []}
{"input": "We therefore evaluated PAR-1 and PAR-2 expression in primary prostate cancer and bone metastasis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 23, "end": 26}], "disease": [{"text": "bone metastasis", "start": 81, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The junD-/-mice were protected from carbon tetrachloride-induced fibrosis.", "output": {"entities": {"gene": [{"text": "junD", "start": 4, "end": 8}], "disease": [{"text": "fibrosis", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In the epithelial components, expression of nuclear β-catenin, p21 (waf1), and cyclin D1 was increased in a stepwise fashion from normal tissue through complex atypical hyperplasia and adenomyoma to APA lesions, particularly in squamous morular areas, whereas cell proliferation, as well as cyclin E expression, was significantly decreased in the latter.", "output": {"entities": {"gene": [{"text": "APA", "start": 199, "end": 202}], "disease": [{"text": "adenomyoma", "start": 185, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Repetitive aspiration events can initiate an inflammatory response consisting of macrophages and T cells that is associated with increased TGF-beta, TNF-alpha, IL-1alpha, IL-1beta, IL-2 and fibrosis in the lung.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 181, "end": 185}], "disease": [{"text": "fibrosis", "start": 190, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) polymorphisms with impaired endothelium-dependent dilatation (EDD) in a cohort of children and adolescents with type 1 diabetes.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 51, "end": 84}], "disease": [{"text": "dilatation", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Immune enhancement of skin carcinogenesis by CD4 + T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 45, "end": 48}], "disease": [{"text": "skin carcinogenesis", "start": 22, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "To study the relationship between the level of the soluble L-selectin (sL-selectin) in plasma and surface L-selectin expression on leukemic cells and episode and state of illness in acute leukemia patients, the plasma level of sL-selectin was measured by a sandwich enzyme-linked immunosorbent assay, and the expressions of surface L-selectin and its gene (lyam-1) were detected by immunohistochemistry and RT-PCR.", "output": {"entities": {"gene": [{"text": "lyam-1", "start": 357, "end": 363}], "disease": [{"text": "acute leukemia", "start": 182, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Cortisol, growth hormone response, and pain following tetracosactrin depot and ACTH gel.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 79, "end": 83}], "disease": [{"text": "pain", "start": 39, "end": 43}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 79, "end": 83}, "tail": {"text": "pain", "start": 39, "end": 43}}]}}, "schema": []}
{"input": "Human IL-31 is induced by IL-4 and promotes TH2-driven inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 26, "end": 30}], "disease": [{"text": "inflammation", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The rat formalin assay was used to assess effects of the cyclic guanosine mono-phosphate (cGMP) analog, 8-bromo-cGMP on nociception and cGMP dependent protein kinase I (protein kinase G; PKG-I) expression in lumbar spinal cord.", "output": {"entities": {"gene": [{"text": "PKG", "start": 187, "end": 190}], "disease": [{"text": "mono", "start": 74, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Common NOS1 and rare NOX1 variants also revealed a suggestive association with diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 7, "end": 11}], "disease": [{"text": "diabetic nephropathy", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We conclude that KCNJ11/S225T, del226-232 mutation caused a mild iDEND form in our patient.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 17, "end": 23}], "disease": [{"text": "mild", "start": 60, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Together, these results indicated that chronic elevated IL-18 levels at a supraphsiological concentration aggravated insulin resistance, enhanced vascular inflammation and remodeling, probably by increasing the level of IRAK1 and the activity of NF-kappaB.", "output": {"entities": {"gene": [{"text": "IRAK1", "start": 220, "end": 225}], "disease": [{"text": "insulin resistance", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "Keratin 9", "start": 0, "end": 9}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 57, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Keratin 9", "start": 0, "end": 9}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 57, "end": 95}}]}}, "schema": []}
{"input": "In this report we describe the pregnancy outcomes in three CDH1 mutation positive women after PTG and in a CDH1 mutation negative woman after total gastrectomy for early gastric cancer.", "output": {"entities": {"gene": [{"text": "PTG", "start": 94, "end": 97}], "disease": [{"text": "early gastric cancer", "start": 164, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In RT-PCR, amplified fragments of the expected sizes (247bp) were detected in 90 of 90 samples examined, and the semiquantitative RT-PCR result showed an up-regulation of GHR mRNA expression during the polyp-adenoma-carcinoma sequence, which was consistent with the immunohistochemical results.", "output": {"entities": {"gene": [{"text": "GHR", "start": 171, "end": 174}], "disease": [{"text": "polyp", "start": 202, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that SCN8A may be a potential susceptibility gene for bipolar disorder in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "SCN8A", "start": 26, "end": 31}], "disease": [{"text": "bipolar disorder", "start": 75, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SCN8A", "start": 26, "end": 31}, "tail": {"text": "bipolar disorder", "start": 75, "end": 91}}]}}, "schema": []}
{"input": "The effects of MT1F expression on RKO cell survival and tumorigenesis was analyzed.", "output": {"entities": {"gene": [{"text": "MT1F", "start": 15, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.", "output": {"entities": {"gene": [{"text": "TSEN54", "start": 0, "end": 6}], "disease": [{"text": "pontocerebellar hypoplasia type 1", "start": 32, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSEN54", "start": 0, "end": 6}, "tail": {"text": "pontocerebellar hypoplasia type 1", "start": 32, "end": 65}}]}}, "schema": []}
{"input": "Interleukin-6 is a potent inducer of S100P, which is up-regulated in androgen-refractory and metastatic prostate cancer.", "output": {"entities": {"gene": [{"text": "S100P", "start": 37, "end": 42}], "disease": [{"text": "metastatic prostate cancer", "start": 93, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.", "output": {"entities": {"gene": [{"text": "BBS6", "start": 39, "end": 43}], "disease": [{"text": "McKusick-Kaufman syndrome", "start": 169, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BBS6", "start": 39, "end": 43}, "tail": {"text": "McKusick-Kaufman syndrome", "start": 169, "end": 194}}]}}, "schema": []}
{"input": "The mean TRF length tended to decrease as the mucosa underwent chronic atrophy gastritis, intestinal metaplasia, dysplasia and into gastric cancer.", "output": {"entities": {"gene": [{"text": "TRF", "start": 9, "end": 12}], "disease": [{"text": "gastric cancer", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The observation of BRCA2-26 G/A 5' UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 19, "end": 24}], "disease": [{"text": "sporadic", "start": 186, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "We addressed the role of C5a on tumor growth by transfecting both human carcinoma and murine lymphoma with mouse C5a.", "output": {"entities": {"gene": [{"text": "C5a", "start": 25, "end": 28}], "disease": [{"text": "carcinoma", "start": 72, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The mutation detection rate in this study was 42% overall, but was only 12% in individuals not fulfilling the diagnostic criteria for MFS, suggesting that clinical overdiagnosis is one reason for the low detection rate observed for FBN1 mutation analysis.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 232, "end": 236}], "disease": [{"text": "MFS", "start": 134, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 232, "end": 236}, "tail": {"text": "MFS", "start": 134, "end": 137}}]}}, "schema": []}
{"input": "Separating passive smokers from the nonexposed impacts on the inference about a possible NAT2-smoking interaction.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 89, "end": 93}], "disease": [{"text": "smoking", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The triad of microcephaly, generalized seizures, and permanent neonatal diabetes should prompt screening for mutations in IER3IP1.", "output": {"entities": {"gene": [{"text": "IER3IP1", "start": 122, "end": 129}], "disease": [{"text": "generalized seizures", "start": 27, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "T-lymphocyte maturation-associated protein gene as a candidate metastasis suppressor for head and neck squamous cell carcinomas.", "output": {"entities": {"gene": [{"text": "T-lymphocyte maturation-associated protein", "start": 0, "end": 42}], "disease": [{"text": "squamous cell carcinomas", "start": 103, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "T-lymphocyte maturation-associated protein", "start": 0, "end": 42}, "tail": {"text": "squamous cell carcinomas", "start": 103, "end": 127}}]}}, "schema": []}
{"input": "This stimulation of MDM2 sumoylation is accomplished through a direct interaction of SKI with SUMO-conjugating enzyme E2, Ubc9, resulting in enhanced thioester bond formation and mono-sumoylation of Ubc9.", "output": {"entities": {"gene": [{"text": "SKI", "start": 85, "end": 88}], "disease": [{"text": "mono", "start": 179, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results strongly suggest that the HCV core-induced epigenetic silencing of SFRP1 may lead to the activation of the Wnt signaling pathway and thus contribute to HCC aggressiveness through induction of EMT.", "output": {"entities": {"gene": [{"text": "HCC", "start": 180, "end": 183}], "disease": [{"text": "aggressiveness", "start": 184, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Some of the p53 mutants identified in BRCA1 and BRCA2 mutation carriers are either previously undescribed or infrequently reported in sporadic human cancers.", "output": {"entities": {"gene": [{"text": "p53", "start": 12, "end": 15}], "disease": [{"text": "sporadic", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The blockade of both enzymatic activities (kinase and endoribonuclease) of ERN1 in glioma cells led to a significant down-regulation of the expression of IGFBP1, IGFBP2, and IGF2BP3 genes and strong up-regulation of HTRA1.", "output": {"entities": {"gene": [{"text": "HTRA1", "start": 216, "end": 221}], "disease": [{"text": "glioma", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Recently, many new functions and properties of GRO-α/CXCR2 system have been discovered and associated with atherosclerosis, angiogenesis, and many inflammatory conditions, such as autoimmune diseases.", "output": {"entities": {"gene": [{"text": "CXCR2", "start": 53, "end": 58}], "disease": [{"text": "autoimmune diseases", "start": 180, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The E3 ligase synoviolin controls body weight and mitochondrial biogenesis through negative regulation of PGC-1β.", "output": {"entities": {"gene": [{"text": "synoviolin", "start": 14, "end": 24}], "disease": [{"text": "body weight", "start": 34, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In this study, we assessed γ-secretase activity in brain samples from 15 nondemented subjects, 22 FAD patients harboring nine different mutations in PSEN1, and 11 sporadic AD (SAD) patients.", "output": {"entities": {"gene": [{"text": "FAD", "start": 98, "end": 101}], "disease": [{"text": "sporadic", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We examined S100P expression in 45 bulk pancreatic tissues; in microdissected cells, including invasive ductal carcinoma (IDC) cells (20 sections), pancreatic intraepithelial neoplasia (PanIN) cells (12 sections), intraductal papillary mucinous neoplasm (IPMN) cells (19 sections), and normal epithelial cells (11 sections); and in pancreatic juice samples from 99 patients with pancreatic diseases (32 cancer, 35 IPMN, and 32 chronic pancreatitis samples).", "output": {"entities": {"gene": [{"text": "S100P", "start": 12, "end": 17}], "disease": [{"text": "chronic pancreatitis", "start": 427, "end": 447}]}, "relations": {}}, "schema": []}
{"input": "The mean diameter of the 10 additional LNs with OCM found at SS only and of the 6 additional LNs found at IHC only was significantly lower than the mean diameter of the 28 metastases found at routine pathologic examination (RPE) (P <. 0001).", "output": {"entities": {"gene": [{"text": "RPE", "start": 224, "end": 227}], "disease": [{"text": "metastases", "start": 172, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The IGR-CaP1 cell line is a unique model derived from a primary tumor, which can reconstitute human prostate adenocarcinoma in animals and generate experimental bone metastases, providing a novel means for understanding the mechanisms of bone metastasis progression and allowing preclinical testing of new therapies.", "output": {"entities": {"gene": [{"text": "CaP1", "start": 8, "end": 12}], "disease": [{"text": "bone metastasis", "start": 238, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "In contrast, in sporadic forms of cancer there is frequent absence of a second event (point mutations) suggesting that allelic imbalance at the BRCA2 locus may be associated with a \" gene dosage effect \" of BRCA2 function.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 144, "end": 149}], "disease": [{"text": "sporadic", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "A case control study of 125 GHD cases and 159 control subjects were characterized for bone age, body mass index (BMI), height, weight, leptin, IGF-1, GH and their genotype at the leptin promoter G-2548A, and LEPR variants, K109R and Q223R, at Chung Shan Medical University Hospital.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 208, "end": 212}], "disease": [{"text": "height", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "ACTB and TB10 mRNAs were also decreased in bipolar disorder.", "output": {"entities": {"gene": [{"text": "TB10", "start": 9, "end": 13}], "disease": [{"text": "bipolar disorder", "start": 43, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TB10", "start": 9, "end": 13}, "tail": {"text": "bipolar disorder", "start": 43, "end": 59}}]}}, "schema": []}
{"input": "The effect of vector-based survivin short hairpin RNA (shRNA) on the malignant phenotype of HCC cells in vitro and in vivo was determined, and an adenovirus-mediated shRNA expression vector was developed to decrease survivin expression of the established HCC tumor in nude mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 92, "end": 95}], "disease": [{"text": "adenovirus", "start": 146, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We here report that the cellular ceramide/S1P ratio is a critical biosensor for predicting pancreatic cancer cell sensitivity to gemcitabine.", "output": {"entities": {"gene": [{"text": "S1P", "start": 42, "end": 45}], "disease": [{"text": "pancreatic cancer", "start": 91, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Expression profiling for cancer stem cell-related genes suggested that FoxQ1 may negatively regulate the expression of Dachshund homolog 1 (DACH1), whose expression is lost in invasive breast cancer.", "output": {"entities": {"gene": [{"text": "FoxQ1", "start": 71, "end": 76}], "disease": [{"text": "breast cancer", "start": 185, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FoxQ1", "start": 71, "end": 76}, "tail": {"text": "breast cancer", "start": 185, "end": 198}}]}}, "schema": []}
{"input": "Here, we report that, compared to adjacent non-cancerous tissues, expression of PU. 1 mRNA in metastatic hepatocellular carcinoma (HCC), but not primary HCC, was significantly down-regulated.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 80, "end": 85}], "disease": [{"text": "metastatic hepatocellular carcinoma", "start": 94, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 29, "end": 57}], "disease": [{"text": "Leydig cell hypoplasia", "start": 73, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 29, "end": 57}, "tail": {"text": "Leydig cell hypoplasia", "start": 73, "end": 95}}]}}, "schema": []}
{"input": "Only one missense mutation of the hMSH2 gene was identified in 45 patients (2 percent) with sporadic early-onset colorectal cancer.", "output": {"entities": {"gene": [{"text": "hMSH2", "start": 34, "end": 39}], "disease": [{"text": "colorectal cancer", "start": 113, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMSH2", "start": 34, "end": 39}, "tail": {"text": "colorectal cancer", "start": 113, "end": 130}}]}}, "schema": []}
{"input": "Although TxNs had higher levels of externalizing symptoms, social deviance, and familial density of alcoholism compared with controls, these variables were only modestly elevated compared with previous samples of long-term abstinent alcohol-dependent individuals who showed decision-making deficits on the SGT.", "output": {"entities": {"gene": [{"text": "SGT", "start": 306, "end": 309}], "disease": [{"text": "alcoholism", "start": 100, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Specifically, the minimal SMN promoter is four times more active in undifferentiated embryonal carcinoma P19 cells compared to cells treated with retinoic acid (RA) to initiate neuronal differentiation.", "output": {"entities": {"gene": [{"text": "SMN", "start": 26, "end": 29}], "disease": [{"text": "embryonal carcinoma", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment.", "output": {"entities": {"gene": [{"text": "MPAN", "start": 0, "end": 4}], "disease": [{"text": "lower limb spasticity", "start": 89, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In summary, our study demonstrated that HIF-1 and NF-κB are essential for hypoxia-regulated CX3CR1 expression, which is associated with increased migratory and invasive potential of prostate cancer cells.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 92, "end": 98}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Histologically, CD4 + and CD8 + T-cells were present in the sarcoidosis infiltrations.", "output": {"entities": {"gene": [{"text": "CD4", "start": 16, "end": 19}], "disease": [{"text": "sarcoidosis", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This study shows for the first time that CRF1 receptors in the amygdala contribute critically to pain-related anxiety-like behavior and nocifensive responses in a model of arthritic pain.", "output": {"entities": {"gene": [{"text": "CRF1", "start": 41, "end": 45}], "disease": [{"text": "arthritic pain", "start": 172, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Nonobese diabetic/severe combined immunodeficient human leukemia mouse model also revealed that PTL preferentially targets the MPO-high AML cells.", "output": {"entities": {"gene": [{"text": "PTL", "start": 96, "end": 99}], "disease": [{"text": "leukemia", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We examined the presence of extranodal marginal zone lymphoma-associated translocations, t (11; 18) (q21; q21), t (1; 14) (p22; q32), t (14; 18) (q32; q21), t (3; 14) (p14. 1; q32) and numerical aberrations of chromosomes 1, 3, 12 and 18 by fluorescence in situ hybridization in 6 extranodal marginal zone lymphomas and 24 diffuse large B-cell lymphomas with (n = 9) or without (n = 15) marginal zone lymphoma components, with primary localizations in the breast (n = 15), testis (n = 9) and thyroid (n = 6).", "output": {"entities": {"gene": [{"text": "p22", "start": 123, "end": 126}], "disease": [{"text": "marginal zone lymphoma", "start": 39, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.", "output": {"entities": {"gene": [{"text": "LEMD3", "start": 47, "end": 52}], "disease": [{"text": "deformities", "start": 176, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "After statistical adjustment for body fat content, increasing AT-ENPP1 was associated with up-regulation of genes involved in NEFA metabolism and inflammation, increased postabsorptive NEFA levels, decreased plasma adiponectin, increased liver triglyceride content, and systemic insulin resistance in men.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 126, "end": 130}], "disease": [{"text": "insulin resistance", "start": 279, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Elevated PTHrP expression in colon cancer may thus upregulate integrin alpha6beta4 expression, with consequent PI3-K activation.", "output": {"entities": {"gene": [{"text": "PI3", "start": 111, "end": 114}], "disease": [{"text": "colon cancer", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Here we show that KLF13 and FGFR3 are overexpressed in oral cancer cells.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 28, "end": 33}], "disease": [{"text": "oral cancer", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In this report, we investigated the methylation status of the p16INK4a cell cycle inhibitor gene and other prominent tumor-related genes (PTEN, RASSF1 A, CDH1, MSH2, MLH1, VHL, and TIMP3) in sporadic and multiple endocrine neoplasia type 2 (MEN2) pheochromocytomas by methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 160, "end": 164}], "disease": [{"text": "sporadic", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Radioligand assays and Scatchard analysis revealed a single class of high affinity IGF-IR binding sites with a similar dissociation constant (Kd: 0. 32 +/-0. 1 nmol/l vs 0. 22 +/-0. 08 nmol/l) for both normal adrenomedullary cells and pheochromocytomas.", "output": {"entities": {"gene": [{"text": "IGF", "start": 83, "end": 86}], "disease": [{"text": "dissociation", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that, at least in the Korean population, the GSTM1 polymorphism may confer susceptibility to the development of schizophrenia but not to tardive dyskinesia.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 65, "end": 70}], "disease": [{"text": "dyskinesia", "start": 165, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "We measured NEP2 and NEP mRNA levels from non-impaired (NI), mild cognitive impaired (MCI), and clinical Alzheimer' s disease (AD) subjects in the mid-temporal gyrus, mid-frontal gyrus, caudate, and cerebellum.", "output": {"entities": {"gene": [{"text": "NEP", "start": 12, "end": 15}], "disease": [{"text": "mild", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: MR-1 is an important variable that can be used to evaluate the outcome, prognosis and targeted therapy of gastric cancer patients.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 12, "end": 16}], "disease": [{"text": "gastric cancer", "start": 118, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These results verify that EphA2 is an important oncogene and potentially a common source of' addiction' for many melanoma cells.", "output": {"entities": {"gene": [{"text": "EphA2", "start": 26, "end": 31}], "disease": [{"text": "addiction", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four hours prior to ischemia surgery, 1 microl of HSVbcl-2 was infused unilaterally into the CA1 region at a rate of 2 nl/min.", "output": {"entities": {"gene": [{"text": "CA1", "start": 100, "end": 103}], "disease": [{"text": "ischemia", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We have reported the presence of a specific mutation (ATG50--> AGG) or deletion of codon 50 of the ARP gene in different tumor types (Shridhar et al., 1996, 1996a).", "output": {"entities": {"gene": [{"text": "ARP", "start": 99, "end": 102}], "disease": [{"text": "tumor", "start": 121, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that the increased RGC-32 expression by hypoxia was via hypoxia-inducible factor-1/vascular endothelial growth factor induction in cultured endothelial cells.", "output": {"entities": {"gene": [{"text": "RGC-32", "start": 35, "end": 41}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In a family with multiple gastrointestinal stromal tumors and diffuse hyperplasia of myenteric plexus layer, we have identified another mutation of KIT, a single base mutation, resulting in the substitution of Glu for Lys (642) in the kinase I domain, and studied its biological effect in a cellular system.", "output": {"entities": {"gene": [{"text": "KIT", "start": 148, "end": 151}], "disease": [{"text": "gastrointestinal stromal tumors", "start": 26, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT", "start": 148, "end": 151}, "tail": {"text": "gastrointestinal stromal tumors", "start": 26, "end": 57}}]}}, "schema": []}
{"input": "Several distinct phenotypes caused by the PRPH2 c. 828 + 3A > T mutation were observed and fell into two clinical categories: Group I (N = 44) with mild pattern dystrophies (PD) and Group II (N = 18) with more severe cone-rod dystrophy (CRD), retinitis pigmentosa (RP), and central areolar chorioretinal dystrophy (CACD).", "output": {"entities": {"gene": [{"text": "PRPH2", "start": 42, "end": 47}], "disease": [{"text": "mild", "start": 148, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Heat shock protein 20 (HSP20), which is a member of the small heat shock protein family, is known to participate in many pathological processes, such as asthma, intimal hyperplasia, and insulin resistance.", "output": {"entities": {"gene": [{"text": "HSP20", "start": 23, "end": 28}], "disease": [{"text": "insulin resistance", "start": 186, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Familial febrile seizures is caused by mild loss-of-function mutations in NaV1. 1 channels; mutations in these channels are implicated in febrile seizures associated with vaccination; and impaired alternative splicing of the mRNA encoding these channels may also predispose some children to febrile seizures.", "output": {"entities": {"gene": [{"text": "NaV1. 1", "start": 74, "end": 81}], "disease": [{"text": "mild", "start": 39, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Bile acid excretion and cholesterol 7 alpha-hydroxylase expression in hypercholesterolemia-resistant rabbits.", "output": {"entities": {"gene": [{"text": "cholesterol 7 alpha-hydroxylase", "start": 24, "end": 55}], "disease": [{"text": "hypercholesterolemia", "start": 70, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "cholesterol 7 alpha-hydroxylase", "start": 24, "end": 55}, "tail": {"text": "hypercholesterolemia", "start": 70, "end": 90}}]}}, "schema": []}
{"input": "Strikingly, in a murine model of adoptive transfer of autoimmune diabetes, miR-29b reduces the cytolytic activity of transferred effector CD8 + T-cells, insulitis and disease incidence in a single standalone intervention.", "output": {"entities": {"gene": [{"text": "CD8", "start": 138, "end": 141}], "disease": [{"text": "autoimmune diabetes", "start": 54, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Rapamycin administration at 0. 8 mg/kg/day for 7 days resulted in enhanced atrophy and attenuated the phosphorylation of ERK1, STAT3, and p70S6K without altering gene expression.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 127, "end": 132}], "disease": [{"text": "atrophy", "start": 75, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT3", "start": 127, "end": 132}, "tail": {"text": "atrophy", "start": 75, "end": 82}}]}}, "schema": []}
{"input": "Using three different oncogene-driven mouse mammary tumor models and cell-fate mapping strategies, we show in vivo evidence for the existence of EMT in breast cancer and show that myc can specifically elicit this process.", "output": {"entities": {"gene": [{"text": "EMT", "start": 145, "end": 148}], "disease": [{"text": "mammary tumor", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "WT1 is also expressed in mesothelial cells; a specific oncogenic chromosomal translocation fusing the N-terminal domain of the Ewing sarcoma gene EWS to the three C-terminal zinc fingers of WT1 underlies desmoplastic small round cell tumor, an abdominal tumor thought to arise from the peritoneal lining.", "output": {"entities": {"gene": [{"text": "EWS", "start": 146, "end": 149}], "disease": [{"text": "chromosomal translocation", "start": 65, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here we show that amyloid-β (Aβ) accumulation, which plays a primary role in the cognitive deficits of AD, interferes with CREB activity.", "output": {"entities": {"gene": [{"text": "CREB", "start": 123, "end": 127}], "disease": [{"text": "amyloid", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Among African-American women, ORs for the duration of smoking were elevated among women with XRCC1 codon 399 Arg/Arg genotype (trend test; P < 0. 001) but not Arg/Gln or Gln/Gln (P = 0. 23).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 93, "end": 98}], "disease": [{"text": "smoking", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Mouse Epo-secreting MSCs were generated, tested in vitro, and then implanted by intraperitoneal injection in allogeneic mice previously administered cisplatin to induce AKI.", "output": {"entities": {"gene": [{"text": "Epo", "start": 6, "end": 9}], "disease": [{"text": "AKI", "start": 169, "end": 172}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Epo", "start": 6, "end": 9}, "tail": {"text": "AKI", "start": 169, "end": 172}}]}}, "schema": []}
{"input": "Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 28, "end": 32}], "disease": [{"text": "cystic fibrosis", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 28, "end": 32}, "tail": {"text": "cystic fibrosis", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "We have analysed 31 malignant neuroblastoma with or without MYCN amplification and 13 benign ganglioneuroma and we have observed dramatic differences in the methylation pattern of five genes (CASP8, 14. 3. 3sigma, DeltaN-p73, RASSF1A and DCR2) between these tumors indicating that this phenomenon is not tissue-specific and can be considered as cancer-dependent.", "output": {"entities": {"gene": [{"text": "CASP8", "start": 192, "end": 197}], "disease": [{"text": "ganglioneuroma", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "A significant positive correlation was found between 11β-HSD-1 expression in EA tissue and waist hip ratio and 11β-HSD-1 expression in AA tissue and body mass index, while a negative correlation was found between 11β-HSD-1 expression in EA tissue and HDL.", "output": {"entities": {"gene": [{"text": "HSD-1", "start": 57, "end": 62}], "disease": [{"text": "waist hip ratio", "start": 91, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Two point mutations affecting different domains of Cx32 were identified in two CMTX patients.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 51, "end": 55}], "disease": [{"text": "CMTX", "start": 79, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cx32", "start": 51, "end": 55}, "tail": {"text": "CMTX", "start": 79, "end": 83}}]}}, "schema": []}
{"input": "The CYP1A1 * 2A polymorphism was found to have significant association with chronic obstructive pneumonopathy (p = 0. 045), peripheral circulatory problems (trend p = 0. 042), arteritis (p = 0. 022), allergies (trend p = 0. 046), hemorrhoids (trend p = 0. 026), allergic dermatitis (p = 0. 0016) and miscarriages (p = 0. 012).", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 4, "end": 10}], "disease": [{"text": "arteritis", "start": 176, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A1", "start": 4, "end": 10}, "tail": {"text": "arteritis", "start": 176, "end": 185}}]}}, "schema": []}
{"input": "To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major age-related macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT).", "output": {"entities": {"gene": [{"text": "CFH", "start": 169, "end": 172}], "disease": [{"text": "telangiectasia", "start": 233, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether TWEAK is upregulated in human middle ear cholesteatoma compared to the skin of the normal external auditory canal (EAC).", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 24, "end": 29}], "disease": [{"text": "middle ear cholesteatoma", "start": 54, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Mutations in this gene are responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, multiple epiphyseal dysplasia, atelosteogenesis type 2 and achondrogenesis 1B (ACG-1B).", "output": {"entities": {"gene": [{"text": "ACG", "start": 203, "end": 206}], "disease": [{"text": "diastrophic dysplasia", "start": 101, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "To evaluate whether sporadic CRCs in Czech patients have specific mutational profiles we analysed somatic genetic changes in known CRC genes (APC, KRAS, TP53, CTNNB1, MUTYH and BRAF, loss of heterozygosity (LOH) at the APC locus, microsatellite instability (MSI), and methylation of the MLH1 promoter) in 103 tumours from 102 individuals.", "output": {"entities": {"gene": [{"text": "TP53", "start": 153, "end": 157}], "disease": [{"text": "sporadic", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Statistical comparison of 10 patients who were homozygous for the dF508 mutation of CFTR with 20 patients heterozygous for dF508 revealed no significant differences for height, weight, pulmonary function, resting-energy expenditure, VO2max, or any other exercise variables.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 84, "end": 88}], "disease": [{"text": "height", "start": 169, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Further studies are needed to reproduce the current finding and to understand the biological relationship between IRAK1 and inflammation related to atherosclerosis.", "output": {"entities": {"gene": [{"text": "IRAK1", "start": 114, "end": 119}], "disease": [{"text": "inflammation", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy).])", "output": {"entities": {"gene": [{"text": "LCAT", "start": 594, "end": 598}], "disease": [{"text": "corneal amyloidosis", "start": 133, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Our detailed analyses of a novel target of EWS/WT1 in DSRCT reveal an insight into the oncogenic mechanism of EWS-fusion chromosomal translocation gene products and provide a new marker for DSRCT.", "output": {"entities": {"gene": [{"text": "EWS", "start": 43, "end": 46}], "disease": [{"text": "chromosomal translocation", "start": 121, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "There was no correlation between MRP1 expression and age, gender, WBC count, LDH, hypercalcemia, blood urea nitrogen, or performance status.", "output": {"entities": {"gene": [{"text": "MRP1", "start": 33, "end": 37}], "disease": [{"text": "hypercalcemia", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In five cases of unexplained PSIS including two familial cases, we identified a novel heterozygous frameshift and nonsense and missense mutations in the ROBO1 gene (p. Ala977Glnfs * 40, two affected sibs; p. Tyr1114Ter, sporadic case, and p. Cys240Ser, affected child and paternal aunt) that controls embryonic axon guidance, and branching in the nervous system.", "output": {"entities": {"gene": [{"text": "ROBO1", "start": 153, "end": 158}], "disease": [{"text": "PSIS", "start": 29, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ROBO1", "start": 153, "end": 158}, "tail": {"text": "PSIS", "start": 29, "end": 33}}]}}, "schema": []}
{"input": "In vitro analysis demonstrated that IL-12 p40 suppressed IFN-gamma production in developing and effector Th1 populations, indicating its potential to modulate Th1-promoted inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 105, "end": 108}], "disease": [{"text": "inflammation", "start": 172, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Patients with severe combined immunodeficiencies bearing mutations of adenosine deaminase, adenylate kinase 2, interleukin-2 receptor gamma chain, and Janus kinase 3 genes present NKDs and are prone to a broad range of infections.", "output": {"entities": {"gene": [{"text": "adenosine deaminase", "start": 70, "end": 89}], "disease": [{"text": "infections", "start": 219, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "The Sip1/E-cadherin ratio was higher in primary ovarian carcinomas at the time of diagnosis compared with postchemotherapy ovarian carcinoma effusions (P = 0. 003), higher in Stage IV tumors compared with Stage III tumors (P = 0. 049), and higher in pleural effusions compared with peritoneal effusions (P = 0. 044).", "output": {"entities": {"gene": [{"text": "Sip1", "start": 4, "end": 8}], "disease": [{"text": "pleural effusions", "start": 250, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Taken together, most missense and in-frame MEN1 genomic alterations affect one or all domains of menin interacting with JunD [codons 1-40; 139-242; 323-428], Smad3 [distal to codon 478], and NFkappaB [codons 276-479], three major effectors in transcription and cell growth regulation.", "output": {"entities": {"gene": [{"text": "menin", "start": 97, "end": 102}], "disease": [{"text": "MEN1", "start": 43, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "menin", "start": 97, "end": 102}, "tail": {"text": "MEN1", "start": 43, "end": 47}}]}}, "schema": []}
{"input": "Recently, NPM1 has been implicated in the tumorigenesis processes.", "output": {"entities": {"gene": [{"text": "NPM1", "start": 10, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "It is indicated that blood concentrations, liver function, graft weight, and polymorphism in the ABCB1 gene are important factors in tacrolimus-induced neurotoxicity.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 97, "end": 102}], "disease": [{"text": "neurotoxicity", "start": 152, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCB1", "start": 97, "end": 102}, "tail": {"text": "neurotoxicity", "start": 152, "end": 165}}]}}, "schema": []}
{"input": "Since MIF also has tautomerase activity and blocking tautomerase activity also blocks MIF' s biological activity, we hypothesized that blocking MIF' s tautomerase activity would prevent bladder inflammation.", "output": {"entities": {"gene": [{"text": "MIF' s", "start": 144, "end": 150}], "disease": [{"text": "bladder inflammation", "start": 186, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Spinal ERK1/2 activation with capsaicin treatment correlated with the development of prolonged referred hyperalgesia.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 7, "end": 11}], "disease": [{"text": "hyperalgesia", "start": 104, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK1", "start": 7, "end": 11}, "tail": {"text": "hyperalgesia", "start": 104, "end": 116}}]}}, "schema": []}
{"input": "The LOD score method was used to test for linkage of late-onset FAD to the chromosome 14 markers, under three different models: age-dependent penetrance, an affected-only analysis, and age-dependent penetrance with allowance for possible age-dependent sporadic cases.", "output": {"entities": {"gene": [{"text": "FAD", "start": 64, "end": 67}], "disease": [{"text": "sporadic", "start": 252, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "The TBE-1 cells expressed phosphorylated v-Ha ras polypeptide p21, showed a reduced requirement for growth-factor supplements, and became aneuploid as an early cellular response to v-Ha ras expression.", "output": {"entities": {"gene": [{"text": "TBE-1", "start": 4, "end": 9}], "disease": [{"text": "aneuploid", "start": 138, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Recent work in genetically hypertensive rats has shown linkage of blood pressure with alleles of the renin gene.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 101, "end": 111}], "disease": [{"text": "blood pressure", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results show that RFP works as a novel E3 ligase in the Pax7-mediated degradation of MyoD in response to skeletal muscle atrophy.", "output": {"entities": {"gene": [{"text": "Pax7", "start": 76, "end": 80}], "disease": [{"text": "skeletal muscle atrophy", "start": 125, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Serum calcium was the only significant marker of Klotho expression in multivariate analysis with calcium, phosphate, PTH, and adenoma weight as independent variables.", "output": {"entities": {"gene": [{"text": "PTH", "start": 117, "end": 120}], "disease": [{"text": "weight", "start": 134, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The remaining defects were detected only in patients with venous occlusive disease (activated protein C resistance in 11. 2% of patients, protein S or C deficiency in 6. 6%, and plasminogen deficiency in 0. 9%), with an overall prevalence of 18. 7% (CI, 12. 1% to 27. 6%).", "output": {"entities": {"gene": [{"text": "protein S", "start": 138, "end": 147}], "disease": [{"text": "plasminogen deficiency", "start": 178, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "There should be no dysplasia, monocytosis, molecular evidence of BCR-ABL1, PDGFRA, PDGFRB, or FGRF1 rearrangements and no identifiable cause for physiologic neutrophilia or, if present, demonstration of myeloid clonality.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 75, "end": 81}], "disease": [{"text": "monocytosis", "start": 30, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "To study the potential application of these agents, the expression of DR4 and DR5 were studied immunohistochemically in colorectal adenomas and carcinomas from patients with sporadic disease (n = 74 and 56, respectively), familial adenomatous polyposis (FAP, n = 41 and 4, respectively) and hereditary non-polyposis colorectal cancer (HNPCC, n = 50 and 21, respectively).", "output": {"entities": {"gene": [{"text": "DR5", "start": 78, "end": 81}], "disease": [{"text": "polyposis", "start": 243, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "SEMD, MR, microcephaly, ataxia, facial dysmorphism and hirsutism of back and legs were noted in the two children.", "output": {"entities": {"gene": [{"text": "SEMD", "start": 0, "end": 4}], "disease": [{"text": "microcephaly", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "In silico analysis of gene expression profiles from studies that assessed the effects of KLF2 overexpression in vitro and atherosclerosis in vivo on endothelial cells, identifies AQP1 as KLF2 downstream gene with elevated expression in the plaque-free vessel wall.", "output": {"entities": {"gene": [{"text": "KLF2", "start": 89, "end": 93}], "disease": [{"text": "plaque", "start": 240, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "ApoA-I GT reduced the development of streptozotocin-induced diabetic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "ApoA-I", "start": 0, "end": 6}], "disease": [{"text": "diabetic cardiomyopathy", "start": 60, "end": 83}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ApoA-I", "start": 0, "end": 6}, "tail": {"text": "diabetic cardiomyopathy", "start": 60, "end": 83}}]}}, "schema": []}
{"input": "In fibromyalgia (FM) patients, differences in glucocorticoid receptor (GR) affinity and disturbances associated with loss of hypothalamic-pituitary-adrenal (HPA) axis resiliency have been observed.", "output": {"entities": {"gene": [{"text": "HPA", "start": 157, "end": 160}], "disease": [{"text": "fibromyalgia", "start": 3, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Mouse models of gastrointestinal malignancy implicate Stat3 as a key mediator of inflammatory-driven tumorigenesis, in which its cytokine/gp130/Janus kinase (Jak)-dependent activation provides a functional link through which the microenvironment sustains tumor promotion.", "output": {"entities": {"gene": [{"text": "gp130", "start": 138, "end": 143}], "disease": [{"text": "tumor promotion", "start": 255, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of either C. elegans CLHM-1 or human CALHM1 in neurons is toxic, causing degeneration through a necrotic-like mechanism that is partially Ca (2 +) dependent.", "output": {"entities": {"gene": [{"text": "CALHM1", "start": 52, "end": 58}], "disease": [{"text": "necrotic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Several loop-mediated isothermal amplification (LAMP) assays have been developed to detect common causative pathogens of bacterial meningitis (BM).", "output": {"entities": {"gene": [{"text": "LAMP", "start": 48, "end": 52}], "disease": [{"text": "bacterial meningitis", "start": 121, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "c-Jun N-terminal kinases (SAPK/JNKs) are activated by inflammatory cytokines, and JNK signaling is involved in insulin resistance and beta-cell secretory function and survival.", "output": {"entities": {"gene": [{"text": "SAPK", "start": 26, "end": 30}], "disease": [{"text": "insulin resistance", "start": 111, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "These results indicated that CD8 (+) CD4 (+) and CD8 (+) CD4 (-) leukemia cell populations had distinct drug sensitivity.", "output": {"entities": {"gene": [{"text": "CD4", "start": 37, "end": 40}], "disease": [{"text": "leukemia", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by beta-galactosidase deficiency due to mutations in the GLB1 gene.", "output": {"entities": {"gene": [{"text": "GLB1", "start": 142, "end": 146}], "disease": [{"text": "Morquio B disease", "start": 23, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLB1", "start": 142, "end": 146}, "tail": {"text": "Morquio B disease", "start": 23, "end": 40}}]}}, "schema": []}
{"input": "Such a study design exemplifies the strategy needed to clearly define the contribution of the ACE gene to the plethora of complex genetic diseases where weak associations have been previously reported.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 94, "end": 102}], "disease": [{"text": "plethora", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The EGFR gene was amplified in 52% of tumors; in 44% associated with trisomy/polysomy 7, and in 36% with monosomy 10.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 4, "end": 13}], "disease": [{"text": "trisomy", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.", "output": {"entities": {"gene": [{"text": "TITF1", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "GP gene expression is also elevated in AAV patients, which is not explained by skewed distribution of CD177 + and CD177-subsets but may be associated with neutrophil activation during on-going inflammation.", "output": {"entities": {"gene": [{"text": "AAV", "start": 39, "end": 42}], "disease": [{"text": "inflammation", "start": 193, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Stepwise Logistic regression analysis revealed that male, smoking, history of hypertension, history of diabetes, family history of hypertension, high level of serum cholesterol, and ANP T2238C polymorphism were the possible risk factors in patients with CHD (P < 0. 05).", "output": {"entities": {"gene": [{"text": "ANP", "start": 182, "end": 185}], "disease": [{"text": "smoking", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Despite the limited sample size, these results exclude a major effect of the 5-HTR2a polymorphism on bipolar disorder and HA personality trait but not a minor effect.", "output": {"entities": {"gene": [{"text": "HTR2a", "start": 79, "end": 84}], "disease": [{"text": "personality trait", "start": 125, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Spontaneous mammary tumors of BALB/c and C3H origin, which also showed an MPA-I pattern of tumor growth, had high levels of EGF-R. We postulate that MPA has a direct effect on mammary tumor cells in MPA-D lines and that the expression of EGF-R is correlated with an autonomous pattern of growth.", "output": {"entities": {"gene": [{"text": "EGF", "start": 124, "end": 127}], "disease": [{"text": "mammary tumor", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations in PTEN are present in Bannayan-Zonana syndrome.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 22, "end": 26}], "disease": [{"text": "Bannayan-Zonana syndrome", "start": 42, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 22, "end": 26}, "tail": {"text": "Bannayan-Zonana syndrome", "start": 42, "end": 66}}]}}, "schema": []}
{"input": "In this paper, we report the identification of three new mutations of the keratin 1 chain of epidermolytic hyperkeratosis probands in highly conserved residues in the H1 or beginning of the 1A rod domain segments.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 74, "end": 83}], "disease": [{"text": "epidermolytic hyperkeratosis", "start": 93, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 74, "end": 83}, "tail": {"text": "epidermolytic hyperkeratosis", "start": 93, "end": 121}}]}}, "schema": []}
{"input": "One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.", "output": {"entities": {"gene": [{"text": "HSPA1B", "start": 288, "end": 294}], "disease": [{"text": "major depressive episode", "start": 123, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA1B", "start": 288, "end": 294}, "tail": {"text": "major depressive episode", "start": 123, "end": 147}}]}}, "schema": []}
{"input": "These studies demonstrate that IGF peptides regulate CM concentrations of IGFBP-3 through non-receptor mediated events, including dissociation of cell surface-associated IGFBP-3 and protection of IGFBP-3 from protease activity.", "output": {"entities": {"gene": [{"text": "IGF", "start": 31, "end": 34}], "disease": [{"text": "dissociation", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "XRCC1 399Gln and XRCC3 241Met are deficient in the repair of X-ray-, but not UV-light-induced chromosome aberrations, therefore the variant genes are defective in base excision repair.", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 17, "end": 22}], "disease": [{"text": "chromosome aberrations", "start": 94, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We examined the relationship between a common, functional polymorphism of the human sEH gene and coronary artery calcification (CAC) in young, largely asymptomatic African-American and non-Hispanic white subjects.", "output": {"entities": {"gene": [{"text": "CAC", "start": 128, "end": 131}], "disease": [{"text": "coronary artery calcification", "start": 97, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In the colon, HD-5, HD-6, and sPLA2 were increased during inflammation in wild-type but not in NOD2 mutated patients.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 30, "end": 35}], "disease": [{"text": "inflammation", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Amplification of 8p12-p11 is relatively common in breast cancer and several genes within the region have been suggested to affect breast tumor progression.", "output": {"entities": {"gene": [{"text": "p11", "start": 22, "end": 25}], "disease": [{"text": "tumor progression", "start": 137, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.", "output": {"entities": {"gene": [{"text": "glycophorin C", "start": 51, "end": 64}], "disease": [{"text": "elliptocytosis", "start": 20, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glycophorin C", "start": 51, "end": 64}, "tail": {"text": "elliptocytosis", "start": 20, "end": 34}}]}}, "schema": []}
{"input": "The clinicopathologic features and carcinogenesis of RER-positive sporadic colorectal cancers were considered different from those of RER-negative tumors.", "output": {"entities": {"gene": [{"text": "RER", "start": 53, "end": 56}], "disease": [{"text": "carcinogenesis", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Individuals with a history of gangrenous appendicitis demonstrated ability to increased IL-10 and IFN-gamma production.", "output": {"entities": {"gene": [{"text": "IFN", "start": 98, "end": 101}], "disease": [{"text": "appendicitis", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Tissue mRNA of VEGF-165, VEGF-189 and their receptor KDR was assessed by a semi-quantitative retro-transcriptase polymerase chain reaction, and expressed as target transcript/beta-actin ratio, in 29 patients with HCC, 26 with cirrhosis and 15 with chronic hepatitis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 213, "end": 216}], "disease": [{"text": "chronic hepatitis", "start": 248, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "This region contains hMunc13-4, a member of the Munc13 family of proteins involved in vesicle priming function.", "output": {"entities": {"gene": [{"text": "Munc13", "start": 22, "end": 28}], "disease": [{"text": "vesicle", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "This may affect the cytokine milieu at the materno-fetal interface and could be implicated in the attenuated Th1 responses observed commonly in infants of atopic mothers.", "output": {"entities": {"gene": [{"text": "Th1", "start": 109, "end": 112}], "disease": [{"text": "atopic", "start": 155, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Moreover, IL-6 injections restored the transcriptional activity of the manganese-superoxide dismutase promoter through recovery of the recruitment of STAT3 to the manganese-superoxide dismutase promoter and reduced infarct volume after tFCI.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 150, "end": 155}], "disease": [{"text": "infarct", "start": 215, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "The hypoxic cancer secretome induces pre-metastatic bone lesions through lysyl oxidase.", "output": {"entities": {"gene": [{"text": "lysyl oxidase", "start": 73, "end": 86}], "disease": [{"text": "hypoxic", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 17, "end": 38}], "disease": [{"text": "Hunter syndrome", "start": 102, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 17, "end": 38}, "tail": {"text": "Hunter syndrome", "start": 102, "end": 117}}]}}, "schema": []}
{"input": "These results suggest that VEGF-D is crucial for CD74-induced human renal carcinoma cancer cell tumorigenesis.", "output": {"entities": {"gene": [{"text": "CD74", "start": 49, "end": 53}], "disease": [{"text": "tumorigenesis", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to analyze the segregation of the 102T/C polymorphism in the serotonin 2A receptor gene in patients affected by sporadic and familial Alzheimer' s disease (FAD) with and without psychotic symptoms.", "output": {"entities": {"gene": [{"text": "FAD", "start": 181, "end": 184}], "disease": [{"text": "sporadic", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we demonstrated a pivotal role of H6PD in proliferation and migratory potential of 3 human breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "H6PD", "start": 56, "end": 60}], "disease": [{"text": "breast cancer", "start": 113, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "H6PD", "start": 56, "end": 60}, "tail": {"text": "breast cancer", "start": 113, "end": 126}}]}}, "schema": []}
{"input": "We propose that LZTFL1 may inhibit tumorigenesis by stabilizing E-cadherin-mediated adherens junction formation and promoting epithelial cell differentiation.", "output": {"entities": {"gene": [{"text": "LZTFL1", "start": 16, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Colonic polyps, cancer, and normal mucosa were evaluated for 5-LOX expression by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "5-LOX", "start": 61, "end": 66}], "disease": [{"text": "Colonic polyps", "start": 0, "end": 14}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-LOX", "start": 61, "end": 66}, "tail": {"text": "Colonic polyps", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "We have investigated whether hypoxia influences CD40-CD40L mediated vascular inflammatory responses, ROS production, and cellular interactions.", "output": {"entities": {"gene": [{"text": "CD40", "start": 48, "end": 52}], "disease": [{"text": "hypoxia", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Twelve common SNPs in TP53 were genotyped in a case-control study of sporadic OS.", "output": {"entities": {"gene": [{"text": "TP53", "start": 22, "end": 26}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Because ACE2 deficiency promoted AAA formation in AngII-infused mice, we determined whether ACE2 activation suppressed AAAs.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 8, "end": 12}], "disease": [{"text": "AAA", "start": 33, "end": 36}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACE2", "start": 8, "end": 12}, "tail": {"text": "AAA", "start": 33, "end": 36}}]}}, "schema": []}
{"input": "After our initial case identifications, we explored 2 large cohorts of patients with wild-type forkhead box protein 3 and an immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX)-like phenotype for STAT1 mutations.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 212, "end": 217}], "disease": [{"text": "enteropathy", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Within each race/ethnicity, we assessed genetic associations of the I/D variant with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension, as well as genotype-sex interactions, in four genetic models (additive, dominant, recessive, and codominant).", "output": {"entities": {"gene": [{"text": "DBP", "start": 142, "end": 145}], "disease": [{"text": "systolic blood pressure", "start": 85, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In this report, we present the results of a thorough survey of ATM mutations in 14 unrelated AT patients, with an emphasis on Japanese subjects.", "output": {"entities": {"gene": [{"text": "ATM", "start": 63, "end": 66}], "disease": [{"text": "AT", "start": 63, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 63, "end": 66}, "tail": {"text": "AT", "start": 63, "end": 65}}]}}, "schema": []}
{"input": "The four patients had typical skeletal and ocular phenotypes of OPS, namely severe juvenile osteoporosis and early-onset visual disturbance, with or without mental retardation.", "output": {"entities": {"gene": [{"text": "OPS", "start": 64, "end": 67}], "disease": [{"text": "juvenile osteoporosis", "start": 83, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The differential expression of seven genes, involved in multiple cellular processes such as signal transduction (MIC-1), differentiation (DMBT1 and Neugrin), immune response (CD74), inflammation (CXCL2), cell cycle (CEB1) and enzymatic activity (Kallikrein 6), was confirmed by either immunohistochemical labeling of tissue microarrays (Kallikrein 6, CD74 and DMBT1) or by RT-PCR (CEB1, Neugrin, MIC1 and CXCL2).", "output": {"entities": {"gene": [{"text": "CEB1", "start": 216, "end": 220}], "disease": [{"text": "inflammation", "start": 182, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Reciprocal relationship in gene expression between FGFR1 and FGFR3: implication for tumorigenesis.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 61, "end": 66}], "disease": [{"text": "tumorigenesis", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Circulating SHBG is strongly associated with systemic metabolism and predictive for insulin resistance and diabetes.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 12, "end": 16}], "disease": [{"text": "insulin resistance", "start": 84, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Patients included in this study were those who fulfilled the diagnostic criteria of urosepsis, APN, and ALN, without underlying disease or structural anomalies, excluding those with vesicoureteral reflux.", "output": {"entities": {"gene": [{"text": "ALN", "start": 104, "end": 107}], "disease": [{"text": "vesicoureteral reflux", "start": 182, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Karyotypic analysis of PC-3 by Q-and C-banding showed the cells to be aneuploid at all culture passage levels.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 23, "end": 27}], "disease": [{"text": "aneuploid", "start": 70, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Intracellular Abeta42 activates p53 promoter: a pathway to neurodegeneration in Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "p53", "start": 32, "end": 35}], "disease": [{"text": "neurodegeneration", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The evidence supports the hypothesis that Th1/Th2 imbalance in asthmatic inflammation may be a result of premature apoptosis within the Th1 subset.", "output": {"entities": {"gene": [{"text": "Th1", "start": 42, "end": 45}], "disease": [{"text": "inflammation", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The most apparent differences were a higher incidence of abnormal BAEPs at brainstem level (p < 0. 002), and of both peripheral and possible central SEP impairment in hereditary cerebellar-plus syndrome than in sporadic cerebellar-plus syndrome (p < 0. 03).", "output": {"entities": {"gene": [{"text": "SEP", "start": 149, "end": 152}], "disease": [{"text": "sporadic", "start": 211, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Together with the significant decrease of PINK1 mRNA levels in human ALS muscle tissue, statistically nonsignificant reduction of DJ-1 mRNA levels, and reduced immunostaining for PINK1 in human ALS muscle, the results suggest potential pathophysiologic roles for these proteins in both mutant SOD1 transgenic mice and in sporadic ALS (G93A).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 42, "end": 47}], "disease": [{"text": "sporadic", "start": 321, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Our goal was to evaluate growth patterns in terms of body height, weight, head and chest circumference in patients with mucopolysaccharidosis type I (MPS I) without treatment and after enzyme replacement therapy (ERT) with alpha-l-iduronidase (laronidase).", "output": {"entities": {"gene": [{"text": "alpha-l-iduronidase", "start": 223, "end": 242}], "disease": [{"text": "body height", "start": 53, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In the present study we examined the role played by miR-137 in breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "miR-137", "start": 52, "end": 59}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Pin1 mRNA expression in blood samples from patients with lung cancer, controls with benign lung disease, and healthy subjects were determined by a real-time reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 0, "end": 4}], "disease": [{"text": "lung disease", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "GPC3 protein was positive in sera of 40. 0% (16/40) of HCC patients, and negative in sera from subjects with liver cirrhosis (LC) (0/13), chronic hepatitis (CH) (0/34), and healthy donors (0/60).", "output": {"entities": {"gene": [{"text": "HCC", "start": 55, "end": 58}], "disease": [{"text": "chronic hepatitis", "start": 138, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The genes for both Shiga toxins I and II (stx1 and stx2, respectively) were detected in all but one isolate (sporadic case), and Shiga toxin production by the day care center isolates was not significantly different from that of the other isolates, including the three HUS-associated isolates.", "output": {"entities": {"gene": [{"text": "stx1", "start": 42, "end": 46}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Can the TLR-4-mediated signaling pathway be \" a key inflammatory promoter for sporadic TAA \"?", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 8, "end": 13}], "disease": [{"text": "sporadic", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "One hundred subjects, with or without CV risk factors, were enrolled to evaluate plasma and erythrocyte redox status (GSH, homocysteine, cysteine, cysteinylglycine), antioxidant vitamins (alpha-tocopherol and ascorbate), malondialdehyde, a lipid peroxidation product, and the presence of the GCLC-129 C/T polymorphism; an experimental hyperhomocysteinemia after methionine-induced stimulation of transsulfuration pathway was performed in 91% of enrolled subjects.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 292, "end": 296}], "disease": [{"text": "hyperhomocysteinemia", "start": 335, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "We analyzed 14 single nucleotide polymorphisms (SNPs) within 7 inflammasome genes (NLRP1, NLRP3, NLRC4, AIM2, CARD8, CASP1, IL1B) in 144 patients affected by systemic lupus erythematosus and in 158 healthy controls from Southern Brazilian (state of São Paulo) with the aim of disclosing the possible role of inflammasome genes in the susceptibility of SLE.", "output": {"entities": {"gene": [{"text": "CARD8", "start": 110, "end": 115}], "disease": [{"text": "systemic lupus erythematosus", "start": 158, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "AIM: Epidermal growth factor receptor (EGFR) mutational status is a crucial biomarker for prediction of response to tyrosine kinase inhibitors in patients with non-small cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "non-small cell lung cancer", "start": 160, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Application of bradykinin to the exposed ventricular surface of the dog' s heart produced reflex pressor effects and tachycardia, whereas application of nicotine evoked reflex hypotension and bradycardia.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 15, "end": 25}], "disease": [{"text": "tachycardia", "start": 117, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 15, "end": 25}, "tail": {"text": "tachycardia", "start": 117, "end": 128}}]}}, "schema": []}
{"input": "In humans, the majority of ErbB2-positive sporadic breast cancers harbor p53 mutations, which correlate with poor prognosis.", "output": {"entities": {"gene": [{"text": "p53", "start": 73, "end": 76}], "disease": [{"text": "sporadic", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We found that the levels of HtrA2 and HtrA3-S were higher in thyroid malignant tumors compared to normal tissues and benign tumors.", "output": {"entities": {"gene": [{"text": "HtrA3", "start": 38, "end": 43}], "disease": [{"text": "benign tumors", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the antitumor effect of adenovirus-mediated gene transfer of LIGHT, the tumor-necrosis factor (TNF) superfamily member also known as TNFSF14, in the murine A20 B-cell lymphoma.", "output": {"entities": {"gene": [{"text": "TNFSF14", "start": 155, "end": 162}], "disease": [{"text": "adenovirus", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "It is not known whether somatic MSH2 methylation occurs in MSH2 mutation-positive Lynch syndrome subjects or sporadic colorectal cancers (CRC).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 32, "end": 36}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", "output": {"entities": {"gene": [{"text": "SETBP1", "start": 13, "end": 19}], "disease": [{"text": "myelodysplastic syndromes", "start": 37, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SETBP1", "start": 13, "end": 19}, "tail": {"text": "myelodysplastic syndromes", "start": 37, "end": 62}}]}}, "schema": []}
{"input": "While experimental clinical approaches (mostly applying clamp techniques) in humans confirmed correlations of RBP4 with insulin resistance, studies in larger groups out of clinical routine failed to demonstrate a connection with alternative measures of insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 110, "end": 114}], "disease": [{"text": "insulin sensitivity", "start": 253, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "The IL2RG gene encoding the gamma chain of the lymphocyte receptor for IL-2 lies in human Xq13. 1 and is mutated in males with X-linked severe combined immunodeficiency (SCID).", "output": {"entities": {"gene": [{"text": "IL2RG", "start": 4, "end": 9}], "disease": [{"text": "X-linked severe combined immunodeficiency", "start": 127, "end": 168}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL2RG", "start": 4, "end": 9}, "tail": {"text": "X-linked severe combined immunodeficiency", "start": 127, "end": 168}}]}}, "schema": []}
{"input": "Epidermal growth factor and its receptor (EGF-R) in human pituitary adenomas: EGF-R correlates with tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "EGF", "start": 42, "end": 45}], "disease": [{"text": "aggressiveness", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "CCN1-induced Wnt signaling mediated, at least in part, adhesion and endothelial differentiation of cultured HSCs, and inhibition of Wnt signaling interfered with normalization of the retinal vasculature induced by CCN1-primed HSCs in OIR mice.", "output": {"entities": {"gene": [{"text": "CCN1", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "MIF mRNA expression was slightly higher in obese subjects than in normal-weight subjects (1. 38-fold), while soluble MIF levels did not show differences between groups.", "output": {"entities": {"gene": [{"text": "MIF", "start": 0, "end": 3}], "disease": [{"text": "weight", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Administration of a PDGF-A antagonist greatly reduced bone resorption, osteomalacia, and bone marrow fibrosis in a rat model for hyperparathyroidism, suggesting that PDGF-A is a causative agent for this disease.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 20, "end": 26}], "disease": [{"text": "bone resorption", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These results point to a possible role for EPO as the mediator of cortisol-induced hypertension.", "output": {"entities": {"gene": [{"text": "EPO", "start": 43, "end": 46}], "disease": [{"text": "hypertension", "start": 83, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EPO", "start": 43, "end": 46}, "tail": {"text": "hypertension", "start": 83, "end": 95}}]}}, "schema": []}
{"input": "Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (825C-> T in the G protein beta3 subunit gene and 190G-> A in the CC chemokine receptor 2 gene) were significantly associated with hypertension in men and that one polymorphism (-238G-> A in the tumor necrosis factor-alpha gene) was significantly associated with hypertension in women.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 401, "end": 422}], "disease": [{"text": "smoking", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "These associations remained statistically significant for CpG sites in CTNNA2, KLK7, NPY2R, ZNF132 and KCNK17 in 20 non-smoking women after adjustment for tumor stage and age.", "output": {"entities": {"gene": [{"text": "KCNK17", "start": 103, "end": 109}], "disease": [{"text": "smoking", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Since this discovery, the WNK-OSR1/SPAK-NCC signaling cascade has been shown to be involved not only in PHAII but also in the regulation of blood pressure under normal and pathogenic conditions, such as hyperinsulinemia.", "output": {"entities": {"gene": [{"text": "OSR1", "start": 30, "end": 34}], "disease": [{"text": "hyperinsulinemia", "start": 203, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "In a blinded cohort study of patients with an elevated CA125 levels (30-500 kU/L) and a pelvic mass from the UK Ovarian Cancer Population Study (UKOPS), we measured STn-CA125, ST-CA125 and STn-CA15-3.", "output": {"entities": {"gene": [{"text": "CA125", "start": 55, "end": 60}], "disease": [{"text": "pelvic mass", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Response rates (RRs) to and progression-free survival (PFS) after taxane chemotherapy of 35 BRCA1-associated and 13 BRCA2-associated metastatic breast cancer patients were compared with those outcomes in 95 matched (1: 2) sporadic patients.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 116, "end": 121}], "disease": [{"text": "sporadic", "start": 222, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrated: (1) that positive MIB 1 immunostaining increased progressively from squamous metaplasia to CIN and microinvasive carcinoma, suggesting that neoplastic transformation is associated with a dysfunctional proliferation of cervical epithelium; (2) that there was a significant correlation between the MIB 1 index and CIN degree but not with respect to HPV DNA presence, and (3) that MIB 1 immunostaining might be useful for a clinical evaluation of mild and moderate dysplastic lesions.", "output": {"entities": {"gene": [{"text": "MIB", "start": 41, "end": 44}], "disease": [{"text": "neoplastic transformation", "start": 163, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Modulation of gamma oscillations in the pedunculopontine nucleus by neuronal calcium sensor protein-1: relevance to schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "calcium sensor protein", "start": 77, "end": 99}], "disease": [{"text": "schizophrenia", "start": 116, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calcium sensor protein", "start": 77, "end": 99}, "tail": {"text": "schizophrenia", "start": 116, "end": 129}}]}}, "schema": []}
{"input": "These results are compatible with the hypothesis that the NF2 gene acts as a tumor suppressor and that its inactivation is important in the pathogenesis of sporadic meningioma.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 58, "end": 66}], "disease": [{"text": "sporadic", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "These missense mutations give rise to haploinsufficiency by another route, because the missense mutations presented here resulted in an aniridia phenotype indistinguishable from that caused by a heterozygous deletion of the entire PAX6 gene.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 231, "end": 235}], "disease": [{"text": "aniridia", "start": 136, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 231, "end": 235}, "tail": {"text": "aniridia", "start": 136, "end": 144}}]}}, "schema": []}
{"input": "Furthermore, we demonstrate that IRF-1-induced apoptosis requires fas-associated death domain (FADD) since dominant-negative FADD expressing cells resist IRF-1-induced apoptosis and activated downstream products.", "output": {"entities": {"gene": [{"text": "FADD", "start": 95, "end": 99}], "disease": [{"text": "fas", "start": 66, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "This study, together with previous studies implicating the same locus in atopic sensitisation, suggests that primary RSV bronchiolitis and atopy share a genetic contribution at the IL13-IL4 locus.", "output": {"entities": {"gene": [{"text": "IL13", "start": 181, "end": 185}], "disease": [{"text": "atopy", "start": 139, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PYCR1 cause cutis laxa with progeroid features.", "output": {"entities": {"gene": [{"text": "PYCR1", "start": 13, "end": 18}], "disease": [{"text": "cutis laxa with progeroid features", "start": 25, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PYCR1", "start": 13, "end": 18}, "tail": {"text": "cutis laxa with progeroid features", "start": 25, "end": 59}}]}}, "schema": []}
{"input": "This short report describes the detection of mutations of the TP53 tumour suppressor gene in sporadic ovarian carcinomas using archival paraffin-embedded tissues and automated fluorescent DNA sequencing.", "output": {"entities": {"gene": [{"text": "TP53", "start": 62, "end": 66}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "All PCCs/PGLs are considered to pose some risk of metastasis, and long-term follow-up is advised.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 9, "end": 13}], "disease": [{"text": "metastasis", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.", "output": {"entities": {"gene": [{"text": "S100A10", "start": 77, "end": 84}], "disease": [{"text": "medulloblastoma", "start": 134, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A10", "start": 77, "end": 84}, "tail": {"text": "medulloblastoma", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "Therefore, we examined the effects of a MIF tautomerase inhibitor (ISO-1; also blocks biological activity) on cyclophosphamide (CYP)-induced cystitis in mice.", "output": {"entities": {"gene": [{"text": "MIF", "start": 40, "end": 43}], "disease": [{"text": "cystitis", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Compared with controls we observed significant increases in the numbers of cells expressing RANTES and MCP-3, as well as IL-5, GM-CSF, and IL-3 (all P values < 0. 001) in atopic and nonatopic asthmatics.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 92, "end": 98}], "disease": [{"text": "atopic", "start": 171, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to determine the effects of pentraxin3 (PTX3) on human oxidized low density lipoprotein (oxLDL) uptake and cholesterol efflux from human macrophage foam cells, which may play a critical role in atherogenesis.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 72, "end": 76}], "disease": [{"text": "atherogenesis", "start": 226, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "We conducted a pooled analysis of 5, 026 NHL cases and 4, 630 controls from seven case-control studies in the international lymphoma epidemiology consortium to examine associations between smoking, variation in the N-acetyltransferase genes NAT1 and NAT2, and risk of NHL subtypes.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 250, "end": 254}], "disease": [{"text": "smoking", "start": 189, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In addition, we describe new and recurrent, albeit less frequent, genetic defects including mutations in FYN, ATM, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance mechanisms in the pathogenesis of PTCL.", "output": {"entities": {"gene": [{"text": "FYN", "start": 105, "end": 108}], "disease": [{"text": "PTCL", "start": 254, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FYN", "start": 105, "end": 108}, "tail": {"text": "PTCL", "start": 254, "end": 258}}]}}, "schema": []}
{"input": "We confirm that deficit in protein 4. 1R is recurrent in myeloid malignancies and should be particularly investigated when deletion del (20 q) is present, since we found this chromosomal abnormality in four out of six patients.", "output": {"entities": {"gene": [{"text": "4. 1R", "start": 35, "end": 40}], "disease": [{"text": "malignancies", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We have demonstrated that GSTA1 forms complexes with JNK and modifies JNK activation during cellular stress, but the factors that influence complex association and dissociation are unknown.", "output": {"entities": {"gene": [{"text": "GSTA1", "start": 26, "end": 31}], "disease": [{"text": "dissociation", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Calmodulin immunorecognition by monoclonal antibody CAM1 was found to be lost in cortical tissue sample from brains affected by Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "CAM1", "start": 52, "end": 56}], "disease": [{"text": "Alzheimer' s disease", "start": 128, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAM1", "start": 52, "end": 56}, "tail": {"text": "Alzheimer' s disease", "start": 128, "end": 148}}]}}, "schema": []}
{"input": "Pathway-selective ligands for the estrogen receptor (ER) inhibit NF-kappaB-mediated inflammatory gene expression causing a reduction of cytokines, chemokines, adhesion molecules, and inflammatory enzymes.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 65, "end": 74}], "disease": [{"text": "adhesion", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression.", "output": {"entities": {"gene": [{"text": "CRY1", "start": 93, "end": 97}], "disease": [{"text": "bipolar disorder", "start": 232, "end": 248}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRY1", "start": 93, "end": 97}, "tail": {"text": "bipolar disorder", "start": 232, "end": 248}}]}}, "schema": []}
{"input": "This study confirms that beta-catenin deregulation is involved in sporadic hepatoblastoma and also suggests that mismatch repair defects and p53 mutations contribute to this rare liver cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 141, "end": 144}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In this retrospective case-control study, we evaluated possible associations between single-nucleotide polymorphisms (SNPs) in the candidate DNA damage response genes (ATM, XRCC1, TP53, XRCC3, MTF1) and risk of radiation-induced and sporadic PTC.", "output": {"entities": {"gene": [{"text": "TP53", "start": 180, "end": 184}], "disease": [{"text": "sporadic", "start": 233, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12.", "output": {"entities": {"gene": [{"text": "COL9A2", "start": 21, "end": 27}], "disease": [{"text": "achondroplasia", "start": 201, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "The contribution of BRCA2 to the development of the sporadic form of breast cancer remains undefined.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 20, "end": 25}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We screened STXBP1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging (MRI) without any obvious structural abnormality.", "output": {"entities": {"gene": [{"text": "MRI", "start": 161, "end": 164}], "disease": [{"text": "epilepsy", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Expression of oligodendroglial and astrocytic lineage markers in diffuse gliomas: use of YKL-40, ApoE, ASCL1, and NKX2-2.", "output": {"entities": {"gene": [{"text": "NKX2-2", "start": 114, "end": 120}], "disease": [{"text": "gliomas", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed 1) the expression of MyD88-dependent TLRs on circulating and airway neutrophils in P. aeruginosa-infected CF patients, P. aeruginosa-infected non-CF bronchiectasis patients, and noninfected healthy control subjects and 2) studied the regulation of TLR expression and functionality on neutrophils in vitro.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 48, "end": 53}], "disease": [{"text": "bronchiectasis", "start": 176, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Conventional cytogenetics (karyotyping) will detect the majority of abnormalities involving PDGFRB and FGFR1, but florescence in situ hybridization (FISH)/molecular studies are required to detect factor interacting with PAP (FIP1L1)-PDGFRA as the characteristic 4q12 interstitial deletion is cryptic.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 233, "end": 239}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, using the concerted effort of several European prospective CVD cohorts, we are able to show that one IL-18 tag SNP interacts with smoking to modulate the risk of developing CVD.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 116, "end": 121}], "disease": [{"text": "smoking", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Neuronal tau inclusions were DJ-1 immunopositive in Pick' s disease (PiD), corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 29, "end": 33}], "disease": [{"text": "corticobasal degeneration", "start": 75, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The present study analyzed by conventional PCR the 14-bp insertion/deletion polymorphism of exon 8 HLA-G gene in 150 unrelated healthy subjects, 82 HTLV-1 infected patients with symptoms (33 ATL and 49 HAM), and 56 asymptomatic HTLV-1 infected patients (HAC).", "output": {"entities": {"gene": [{"text": "HLA-G gene", "start": 99, "end": 109}], "disease": [{"text": "asymptomatic", "start": 215, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Regarding new therapies to control fungal infections, the aim of this study was to investigate whether pulmonary administration of leukotriene B (4) (LTB (4))-loaded microspheres (MS) could confer protection to 5-lipoxygenase knockout (5-LO (-/-)) mice infected by H. capsulatum.", "output": {"entities": {"gene": [{"text": "5-LO", "start": 236, "end": 240}], "disease": [{"text": "fungal infections", "start": 35, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Case-control study comparing serum lipids between H. pylori positive and negative patients and controlling for IL-6-174 polymorphism, age, sex and smoking.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 111, "end": 115}], "disease": [{"text": "smoking", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the expression of IL-20 and its receptor (R) in the kidneys of rats with HgCl (2)-induced acute renal failure.", "output": {"entities": {"gene": [{"text": "IL-20", "start": 30, "end": 35}], "disease": [{"text": "acute renal failure", "start": 102, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-20", "start": 30, "end": 35}, "tail": {"text": "acute renal failure", "start": 102, "end": 121}}]}}, "schema": []}
{"input": "Novel ophthalmic features for the CEP290 phenotype were Coats-like exudative vasculopathy in two patients, a small chorioretinal coloboma in one patient, and well defined, small, atrophic spots at the level of the retinal pigment epithelium causing a dot-like appearance in five patients.", "output": {"entities": {"gene": [{"text": "CEP290", "start": 34, "end": 40}], "disease": [{"text": "atrophic", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the RAR alpha gene is involved in the APL chromosome 17 breakpoint, is implicated in leukemogenesis, and could be used as a marker for identifying leukemic promyelocytes.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 36, "end": 46}], "disease": [{"text": "leukemogenesis", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "These studies present definitive evidence that changes in mitochondrial function and ROS production are key components associated with selective killing of prostate cancer cells by mda-7/IL-24.", "output": {"entities": {"gene": [{"text": "mda-7", "start": 181, "end": 186}], "disease": [{"text": "prostate cancer", "start": 156, "end": 171}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "mda-7", "start": 181, "end": 186}, "tail": {"text": "prostate cancer", "start": 156, "end": 171}}]}}, "schema": []}
{"input": "A strong correlation between Muc2 mRNA expression and decreased worm number or biomass in a 50-worm infection was observed.", "output": {"entities": {"gene": [{"text": "Muc2", "start": 29, "end": 33}], "disease": [{"text": "worm", "start": 64, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 77, "end": 83}], "disease": [{"text": "mild", "start": 276, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "In contrast, impaired TAP1, LMP2 and tapasin expression was found in 42%, 42% and 63% of primary adenocarcinomas of stage III disease and in 63%, 47% and 79% of the matched lymph node metastases, respectively.", "output": {"entities": {"gene": [{"text": "LMP2", "start": 28, "end": 32}], "disease": [{"text": "lymph node metastases", "start": 173, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the mutation spectrum of PFN1 in Chinese patients with ALS.", "output": {"entities": {"gene": [{"text": "PFN1", "start": 56, "end": 60}], "disease": [{"text": "ALS", "start": 86, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PFN1", "start": 56, "end": 60}, "tail": {"text": "ALS", "start": 86, "end": 89}}]}}, "schema": []}
{"input": "Moreover, CD8 (+) T cells, which are recruited to tumors upon stimulation by CXCL9 and CXCL10, were largely excluded from viable hypoxic areas in vivo.", "output": {"entities": {"gene": [{"text": "CD8", "start": 10, "end": 13}], "disease": [{"text": "hypoxic", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.", "output": {"entities": {"gene": [{"text": "LDL)-receptor", "start": 62, "end": 75}], "disease": [{"text": "FH", "start": 176, "end": 178}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LDL)-receptor", "start": 62, "end": 75}, "tail": {"text": "FH", "start": 176, "end": 178}}]}}, "schema": []}
{"input": "Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.", "output": {"entities": {"gene": [{"text": "TBX6", "start": 70, "end": 74}], "disease": [{"text": "Autosomal dominant spondylocostal dysostosis", "start": 0, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX6", "start": 70, "end": 74}, "tail": {"text": "Autosomal dominant spondylocostal dysostosis", "start": 0, "end": 44}}]}}, "schema": []}
{"input": "We have tested the hypothesis that elevated numbers of cells expressing mRNA for RANTES and MCP-3, as well as IL-5, GM-CSF, and IL-3 are present in bronchial biopsies from atopic and nonatopic asthmatics compared with atopic and nonatopic nonasthmatic controls.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 81, "end": 87}], "disease": [{"text": "atopic", "start": 172, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.", "output": {"entities": {"gene": [{"text": "EEF1A2", "start": 8, "end": 14}], "disease": [{"text": "autistic behaviors", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Collectively, the data are consistent with a negative regulatory role for endogenous IFN-gamma synthesis in controlling the intensity of systemic IL-13 responses evoked in both atopic and nonatopic populations following exposure to common Ags.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 146, "end": 151}], "disease": [{"text": "atopic", "start": 177, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Both Msi1 and nestin were induced in the reactive astrocytes after ischemia, especially in the CA1 region, until 35 days after ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 95, "end": 98}], "disease": [{"text": "ischemia", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "These findings confirm known regions of CNAs in prostate cancer and localize additional regions and possible genes (e. g., BNIP3L, WWOX, and GATM) that may help to clarify the genetic basis of prostate cancer aggressiveness.", "output": {"entities": {"gene": [{"text": "WWOX", "start": 131, "end": 135}], "disease": [{"text": "prostate cancer aggressiveness", "start": 193, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "We also found that CYP1B1 rs1056827 polymorphism had synergistic effects with smoking or alcohol consumption regarding the risk of laryngeal cancer.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 19, "end": 25}], "disease": [{"text": "smoking", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "EBER was detected in tumor cells in 79 cases (58%); 26/66 PTL, unspecified (39%), 3/4 AILD (75%), 47/51 angiocentric lymphomas (AL) (92%), and 3/13 anaplastic large cell lymphoma (ALCL) (23%) by Revised European-American Lymphoma (REAL) classification.", "output": {"entities": {"gene": [{"text": "PTL", "start": 58, "end": 61}], "disease": [{"text": "lymphomas", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes.", "output": {"entities": {"gene": [{"text": "WNT7A", "start": 4, "end": 9}], "disease": [{"text": "Fuhrmann syndrome", "start": 87, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT7A", "start": 4, "end": 9}, "tail": {"text": "Fuhrmann syndrome", "start": 87, "end": 104}}]}}, "schema": []}
{"input": "Two SNPs in the APC (rs2431238) and NIN (rs10145182) loci, of 34 examined, were significantly associated with pancreatic cancer risk (P = 0. 035 and P = 0. 038, respectively).", "output": {"entities": {"gene": [{"text": "NIN", "start": 36, "end": 39}], "disease": [{"text": "pancreatic cancer", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "TIS21 negatively regulated hepatocarcinogenesis in part by disruption of the FoxM1-cyclin B1 regulatory loop, thereby inhibiting proliferation of transformed cells developed in mouse and human livers.", "output": {"entities": {"gene": [{"text": "cyclin B1", "start": 83, "end": 92}], "disease": [{"text": "hepatocarcinogenesis", "start": 27, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Increased hemorrhage and brain edema that correlated with higher mortality and neurologic deficits were found in MMP-9-knockout mice.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 113, "end": 118}], "disease": [{"text": "brain edema", "start": 25, "end": 36}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MMP-9", "start": 113, "end": 118}, "tail": {"text": "brain edema", "start": 25, "end": 36}}]}}, "schema": []}
{"input": "We immunostained 219 thyroid lesions selected from our surgical pathology archives including 14 hyperplastic colloid nodules (CN), 19 Hashimoto' s thyroiditis (HT), two Graves disease (GD), ten Hürthle cell adenoma (HCA), 20 follicular adenoma (FA), 37 conventional papillary thyroid carcinoma (PTC), 60 follicular variant of papillary carcinoma (FVPC), 19 Hürthle cell carcinoma (HCC), 32 follicular carcinoma (FC), and six poorly differentiated/anaplastic carcinoma.", "output": {"entities": {"gene": [{"text": "HCC", "start": 381, "end": 384}], "disease": [{"text": "papillary carcinoma", "start": 326, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "Finally, a progressive increase of the GRS is evident in advanced periodontitis in comparison with early forms.", "output": {"entities": {"gene": [{"text": "GRS", "start": 39, "end": 42}], "disease": [{"text": "periodontitis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we showed that SIRT3 positively regulated both mitochondrial oxidative capacity and antioxidant gene expression, thereby reducing ROS accumulation in mProx cells, which suggests a mechanism that underlies SIRT3-mediated reversal of palmitate-induced inflammation.", "output": {"entities": {"gene": [{"text": "SIRT3", "start": 28, "end": 33}], "disease": [{"text": "inflammation", "start": 263, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Therefore the GHS-R1A may constitute a novel candidate for development of new treatment strategies for alcohol dependence.", "output": {"entities": {"gene": [{"text": "GHS", "start": 14, "end": 17}], "disease": [{"text": "alcohol dependence", "start": 103, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GHS", "start": 14, "end": 17}, "tail": {"text": "alcohol dependence", "start": 103, "end": 121}}]}}, "schema": []}
{"input": "Sialomucin complex (SMC), a rat homologue of the human mucin MUC4, is a large membrane-bound mucin complex, originally isolated from highly metastatic ascites 13762 mammary adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "MUC4", "start": 61, "end": 65}], "disease": [{"text": "ascites", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Up-regulated P-gp expression and increased CYP isoenzymatic activities of small intestines in hepatic fibrosis rats may contribute to the decreased bioavailability and increased elimination of ofloxacin after oral administration.", "output": {"entities": {"gene": [{"text": "P-gp", "start": 13, "end": 17}], "disease": [{"text": "hepatic fibrosis", "start": 94, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Twenty-one patients have been described with ALS deficiency, representing 16 unique homozygous or compound heterozygous inactivating mutations of the IGFALS gene.", "output": {"entities": {"gene": [{"text": "IGFALS", "start": 150, "end": 156}], "disease": [{"text": "ALS deficiency", "start": 45, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGFALS", "start": 150, "end": 156}, "tail": {"text": "ALS deficiency", "start": 45, "end": 59}}]}}, "schema": []}
{"input": "In this study, we measured the mRNA expression levels of three methylation-regulating genes (DNMT1, DNMT3b, and MBD2) in 148 tumour samples from patients with non-small cell lung cancer (NSCLC) using quantitative real-time polymerase chain reaction and then determined their prognostic values.", "output": {"entities": {"gene": [{"text": "MBD2", "start": 112, "end": 116}], "disease": [{"text": "non-small cell lung cancer", "start": 159, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "CD166 is a glycoprotein of immunoglobulin superfamily of adhesion molecules which is overexpressed in many tumors.", "output": {"entities": {"gene": [{"text": "CD166", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The mean bladder weight in BOO rats was 5. 8 times of the normal controls, while in animals grafted with B10. HGF cells, the weight was down to four times of the control [90. 2 ± 1. 6 (control), 89. 9 ± 2. 8 (sham), 527. 9 ± 150. 9 (BOO), 447. 7 ± 41. 0 (BOO + B10), and 362. 7 ± 113. 2 (BOO + B10. HGF)].", "output": {"entities": {"gene": [{"text": "BOO", "start": 27, "end": 30}], "disease": [{"text": "weight", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Several circadian genes have been found to be associated with bipolar disorders: at least three studies have reported positive associations for each of CLOCK, NPAS2, ARNTL1, NR1D1, PER3, RORB and CSNK1epsilon.", "output": {"entities": {"gene": [{"text": "NPAS2", "start": 159, "end": 164}], "disease": [{"text": "bipolar disorders", "start": 62, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS2", "start": 159, "end": 164}, "tail": {"text": "bipolar disorders", "start": 62, "end": 79}}]}}, "schema": []}
{"input": "In the largest study to date, we examined the association of plasma CRP with coronary artery calcification (CAC) in 914 asymptomatic subjects in the Study of Inherited Risk of Coronary Atherosclerosis (SIRCA).", "output": {"entities": {"gene": [{"text": "CRP", "start": 68, "end": 71}], "disease": [{"text": "coronary artery calcification", "start": 77, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We found that C3G was overexpressed in accelerated anti-GBM antibody-induced glomerulonephritis and suggest that this modulates glomerular epithelial cell morphology and behavior.", "output": {"entities": {"gene": [{"text": "C3G", "start": 14, "end": 17}], "disease": [{"text": "glomerulonephritis", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.", "output": {"entities": {"gene": [{"text": "AP4S1", "start": 40, "end": 45}], "disease": [{"text": "developmental delay", "start": 83, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AP4S1", "start": 40, "end": 45}, "tail": {"text": "developmental delay", "start": 83, "end": 102}}]}}, "schema": []}
{"input": "While there are some reports of NRP-1 expression in ovarian neoplasm, those results differ in pattern of its expression and its role in ovarian cancer is still unclear.", "output": {"entities": {"gene": [{"text": "NRP", "start": 32, "end": 35}], "disease": [{"text": "ovarian neoplasm", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "This work demonstrates that both hypoxia and reoxygenation are necessary for LOX catalytic activity which facilitates breast cancer cell migration through a hydrogen peroxide-mediated mechanism; thereby illuminating a potentially novel mechanism by which poorly invasive cancer cells can obtain metastatic competency.", "output": {"entities": {"gene": [{"text": "LOX", "start": 77, "end": 80}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Building on research demonstrating associations between serotonin abnormalities and dysfunctional attitudes, we examined the covariation between dysfunctional attitudes and the serotonin transporter gene-linked polymorphic region (5-HTTLPR).", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 177, "end": 198}], "disease": [{"text": "abnormalities", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "As a result, we found that DMH-treated animals were having over-expression of various pro-inflammatory cytokines (IL-1β, IL-2, and IFNγ), aberrant nuclear localization of activated cell survival transcription factors (NF-κB and Stat3) along with the increased incidence of activated angiogenic factors (MMP-2 and MMP-9) suggesting a marked role of inflammation in the tumor progression.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 121, "end": 125}], "disease": [{"text": "inflammation", "start": 348, "end": 360}]}, "relations": {}}, "schema": []}
{"input": "RAN, ZHX2 and RCBTB2 (CHC1L) expression was evaluated by quantitative real time reverse transcription polymerase chain reaction in plasma cells from 85 monoclonal gammopathies: 58 symptomatic multiple myeloma (MM) (52 untreated, six relapsed), eight smouldering MM, five monoclonal gammopathy of undetermined significance, four plasma cell leukaemias and 10 myeloid cell lines.", "output": {"entities": {"gene": [{"text": "ZHX2", "start": 5, "end": 9}], "disease": [{"text": "monoclonal gammopathies", "start": 152, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that H. pylori and IFN-gamma interfere with the differentiation into oxyntic and pyloric glands by the downregulation of Sox2 on IL-4/STAT6 signaling, which may contribute to the transdifferentiation into intestinal metaplasia.", "output": {"entities": {"gene": [{"text": "IFN", "start": 41, "end": 44}], "disease": [{"text": "intestinal metaplasia", "start": 227, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Recently, gene duplication and protein overexpression of lamin B1 (LB1) have been reported in pedigrees with autosomal dominant leukodystrophy (ADLD).", "output": {"entities": {"gene": [{"text": "LB1", "start": 67, "end": 70}], "disease": [{"text": "leukodystrophy", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Given the importance of RhoA and RhoGEF signaling in tumorigenesis, BNIPXL could suppress cellular transformation by preventing sustained Rho activation in concert with restricting RhoA and Lbc binding via its BCH domain.", "output": {"entities": {"gene": [{"text": "BNIPXL", "start": 68, "end": 74}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Merlin/schwannomin associates with proteins at the cell cytoskeleton near the plasma membrane and it inhibits cell proliferation, adhesion, and migration.", "output": {"entities": {"gene": [{"text": "schwannomin", "start": 7, "end": 18}], "disease": [{"text": "adhesion", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The genetic polymorphisms of HLA-DQA1 might be one of the factors influencing the individual susceptibility to TCE-induced severe generalized dermatitis.", "output": {"entities": {"gene": [{"text": "HLA-DQA1", "start": 29, "end": 37}], "disease": [{"text": "dermatitis", "start": 142, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLA-DQA1", "start": 29, "end": 37}, "tail": {"text": "dermatitis", "start": 142, "end": 152}}]}}, "schema": []}
{"input": "The deficits detected in language, verbal processing speed, and verbal executive skills were found to be isolated to the VIQ < PIQ subgroup, while the abnormalities in motor dexterity and nonverbal executive skills were confined to the PIQ < VIQ subgroup.", "output": {"entities": {"gene": [{"text": "PIQ", "start": 127, "end": 130}], "disease": [{"text": "abnormalities", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).", "output": {"entities": {"gene": [{"text": "PSD95", "start": 258, "end": 263}], "disease": [{"text": "depression", "start": 73, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 258, "end": 263}, "tail": {"text": "depression", "start": 73, "end": 83}}]}}, "schema": []}
{"input": "Using break-apart FISH and RT-PCR combined with DNA sequencing, we detected FUS/DDIT3 fusions in 30 sarcomas, while an EWSR1/DDIT3 translocation was identified in one tumor.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 119, "end": 124}], "disease": [{"text": "translocation", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Glomerular filtration rate (GFR), end-stage renal disease and albuminuria are highly heritable.", "output": {"entities": {"gene": [{"text": "GFR", "start": 28, "end": 31}], "disease": [{"text": "albuminuria", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we applied the tetramer technology, showing that a B27/chlamydial peptide containing one of the chlamydial peptides stained CD8 (+) T cells in patients with Chlamydia-induced arthritis.", "output": {"entities": {"gene": [{"text": "CD8", "start": 138, "end": 141}], "disease": [{"text": "arthritis", "start": 189, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Moreover, rolipram significantly potentiated hyperalgesia induced by carrageenan, bradykinin, TNF alpha, IL-1 beta, IL-6 and IL-8.", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 105, "end": 114}], "disease": [{"text": "hyperalgesia", "start": 45, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 105, "end": 114}, "tail": {"text": "hyperalgesia", "start": 45, "end": 57}}]}}, "schema": []}
{"input": "Significant interactions were found for alcohol intake with rs3762999 (p = 0. 0257) and rs999556 (p = 0. 0071) at TNIP/ANXA6; and for cigarette smoking with rs7007032 (p = 0. 0023) and rs10088247 (p = 0. 0023) at CSMD1.", "output": {"entities": {"gene": [{"text": "CSMD1", "start": 213, "end": 218}], "disease": [{"text": "alcohol intake", "start": 40, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The LEP-2548G/A variants seem to moderate the weight-altering effect of risperidone but not psychostimulants.", "output": {"entities": {"gene": [{"text": "LEP", "start": 4, "end": 7}], "disease": [{"text": "weight", "start": 46, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Dipeptidyl peptidase-4 inhibition by gemigliptin prevents abnormal vascular remodeling via NF-E2-related factor 2 activation.", "output": {"entities": {"gene": [{"text": "NF-E2-related factor 2", "start": 91, "end": 113}], "disease": [{"text": "vascular remodeling", "start": 67, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 63, "end": 67}], "disease": [{"text": "cystic fibrosis", "start": 84, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 63, "end": 67}, "tail": {"text": "cystic fibrosis", "start": 84, "end": 99}}]}}, "schema": []}
{"input": "TSA may be useful as an inhibitor of nasal polyp growth, and thus has potential to be used as a novel treatment option for nasal polyposis.", "output": {"entities": {"gene": [{"text": "TSA", "start": 0, "end": 3}], "disease": [{"text": "nasal polyposis", "start": 123, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Using genotypic data from a GWAS of the Study of Addiction: Genetics and Environment (SAGE) dataset, we tested for association of CHRNB3-A6 SNPs with DSM-5 cocaine use disorder.", "output": {"entities": {"gene": [{"text": "CHRNB3", "start": 130, "end": 136}], "disease": [{"text": "cocaine use", "start": 156, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNB3", "start": 130, "end": 136}, "tail": {"text": "cocaine use", "start": 156, "end": 167}}]}}, "schema": []}
{"input": "Quantitative reverse transcription-PCR for NKX3. 1 mRNA using microdissected atrophy revealed a concordance with protein in five of seven cases.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 43, "end": 50}], "disease": [{"text": "atrophy", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The inter-and intrafamilial variability in families with an L1 mutation is very wide, and patients with HSAS, MASA, SP1 and ACC can be present within the same family.", "output": {"entities": {"gene": [{"text": "MASA", "start": 110, "end": 114}], "disease": [{"text": "HSAS", "start": 104, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MASA", "start": 110, "end": 114}, "tail": {"text": "HSAS", "start": 104, "end": 108}}]}}, "schema": []}
{"input": "Finally, in the medial parvicellular division of the paraventricular nucleus, the number of identified corticotropin-releasing hormone neurons also containing vasopressin mRNA is very low in control animals and is not increased by polyethylene glycol injections, suggesting that, within this period, activation of the vasopressin gene may not be a critical event in the neuroendocrine response of corticotropin-releasing hormone neurosecretory neurons to extracellular dehydration.", "output": {"entities": {"gene": [{"text": "corticotropin-releasing hormone", "start": 103, "end": 134}], "disease": [{"text": "dehydration", "start": 469, "end": 480}]}, "relations": {}}, "schema": []}
{"input": "GTPCH has been associated with two clinically distinct human diseases: the recessive hyperphenylalaninemia (HPA) and the dominant dopa-responsive dystonia (DRD).", "output": {"entities": {"gene": [{"text": "dopa-responsive dystonia", "start": 130, "end": 154}], "disease": [{"text": "DRD", "start": 156, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dopa-responsive dystonia", "start": 130, "end": 154}, "tail": {"text": "DRD", "start": 156, "end": 159}}]}}, "schema": []}
{"input": "The systolic blood pressure night to day ratio and also ACR were higher in the fathers of cases when compared with the fathers of controls [systolic 0. 88 (0. 08), n = 14 vs. 0. 85 (0. 12), n = 53, P = 0. 041]; [ACR median (IQ range) 0. 6 mg/mmol (0. 2-16. 9) vs. 0. 47 mg/mmol (0. 3-3. 7), P = 0. 049].", "output": {"entities": {"gene": [{"text": "ACR", "start": 56, "end": 59}], "disease": [{"text": "systolic blood pressure", "start": 4, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Expression of NHE-1 and NHE-3 isoforms and sodium pump activity (PNP), and their modulation by blood pressure (BP), PGE (2) and TXB (2) were examined in the kidneys of 2K-1C rats treated with cilazapril for short-(4 and 24 h) and long-term (7 days) periods.", "output": {"entities": {"gene": [{"text": "PNP", "start": 65, "end": 68}], "disease": [{"text": "blood pressure", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "These results suggested never-smoking females with NAT2 fast acetylator were more prone to lung cancer and reflected the possibility that exposure to heterocyclic amines may contribute to the female lung cancer development in Taiwan.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 51, "end": 55}], "disease": [{"text": "smoking", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "This is a prospective longitudinal cohort study performed between October 2009 and August 2011 involving 9 infertile couples and 21 sets of complete comprehensive chromosomal screening data, including PB1, PB2, corresponding blastomeres and trophectoderm (TE) samples.", "output": {"entities": {"gene": [{"text": "PB1", "start": 201, "end": 204}], "disease": [{"text": "infertile", "start": 107, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Coagulation factor XI (FXI) plays an important part in both venous and arterial thrombosis, rendering FXIa a potential target for the development of antithrombotic therapy.", "output": {"entities": {"gene": [{"text": "FXI", "start": 23, "end": 26}], "disease": [{"text": "arterial thrombosis", "start": 71, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results strongly suggest that the HCV core-induced epigenetic silencing of SFRP1 may lead to the activation of the Wnt signaling pathway and thus contribute to HCC aggressiveness through induction of EMT.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 95, "end": 100}], "disease": [{"text": "aggressiveness", "start": 184, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "A human peroxisome assembly factor-1 (PAF-1) complementary DNA has been cloned that restores the morphological and biochemical abnormalities (including defective peroxisome assembly) in fibroblasts from a patient with group F Zellweger syndrome.", "output": {"entities": {"gene": [{"text": "PAF-1", "start": 38, "end": 43}], "disease": [{"text": "abnormalities", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Concomitantly, epithelial cell proliferation in the polyps was significantly attenuated, suggesting that Sphk1 regulates adenoma progression.", "output": {"entities": {"gene": [{"text": "Sphk1", "start": 105, "end": 110}], "disease": [{"text": "polyps", "start": 52, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The early acquisition of TP53 mutations in the founding HSPC clone probably contributes to the frequent cytogenetic abnormalities and poor responses to chemotherapy that are typical of patients with t-AML/t-MDS.", "output": {"entities": {"gene": [{"text": "HSPC", "start": 56, "end": 60}], "disease": [{"text": "cytogenetic abnormalities", "start": 104, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We show that activation of CD47 increases proliferation of human U87 and U373 astrocytoma cells but not normal astrocytes.", "output": {"entities": {"gene": [{"text": "U87", "start": 65, "end": 68}], "disease": [{"text": "astrocytoma", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "However, hsp90 beta was constitutively overexpressed almost equally in all groups of pancreatic tissue including pancreatic carcinoma, chronic pancreatitis and normal pancreas tissue.", "output": {"entities": {"gene": [{"text": "hsp90", "start": 9, "end": 14}], "disease": [{"text": "chronic pancreatitis", "start": 135, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding.", "output": {"entities": {"gene": [{"text": "fibrillin-1", "start": 171, "end": 182}], "disease": [{"text": "stiff skin syndrome", "start": 15, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibrillin-1", "start": 171, "end": 182}, "tail": {"text": "stiff skin syndrome", "start": 15, "end": 34}}]}}, "schema": []}
{"input": "In conclusion, the suppression of PPP2R5C by RNA interference could effectively inhibit the proliferation of leukemic T cells, the PPP2R5C-siRNA treatment altered gene expression profiles, and the differential expression of the glycogen synthase kinase 3 beta (GSK-3β), ataxia telangiectasia mutated (ATM), and Mdm2 p53 binding protein homolog (MDM2) genes may play an important role in the effects of PPP2R5C knockdown in Jurkat T cells.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 345, "end": 349}], "disease": [{"text": "telangiectasia", "start": 277, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "REA groups BI, J, G and CF correlated with specific PCR ribotypes whereas more than one ribotype was found within REA groups Y, BK, and K. International surveillance of C. difficile strains is important to document the changing epidemiology of this enteric pathogen that continues to cause healthcare facility outbreaks and sporadic infections in other settings.", "output": {"entities": {"gene": [{"text": "REA", "start": 0, "end": 3}], "disease": [{"text": "infections", "start": 333, "end": 343}]}, "relations": {}}, "schema": []}
{"input": "The APAF-1 methylation levels in RCC were significantly higher in tumours larger than 4 cm and in high-grade tumours.", "output": {"entities": {"gene": [{"text": "APAF-1", "start": 4, "end": 10}], "disease": [{"text": "RCC", "start": 33, "end": 36}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APAF-1", "start": 4, "end": 10}, "tail": {"text": "RCC", "start": 33, "end": 36}}]}}, "schema": []}
{"input": "Three patients (3%) had congestive heart failure; three patients dropped out because of significant asymptomatic LVEF decline during PTL followed by TL.", "output": {"entities": {"gene": [{"text": "PTL", "start": 133, "end": 136}], "disease": [{"text": "congestive heart failure", "start": 24, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Our results revealed this new FISH assay accurately detects these abnormalities and will be a useful clinical test for patients with myeloid neoplasms and eosinophilia.", "output": {"entities": {"gene": [{"text": "FISH", "start": 30, "end": 34}], "disease": [{"text": "eosinophilia", "start": 155, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "FGF2 expression in the HUVE-12 cells cocultured with TEV-1 cells was significantly increased under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Here, we present the evidence that the hypoxic induction of angiogenesis by human breast cancer cells (MDA-231) can be ascribed at least in part to CTGF.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 148, "end": 152}], "disease": [{"text": "hypoxic", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Results of the present study indicate that 1) PGE (2) promotes survival of human endometriotic cells through EP2 and EP4 receptors by activating ERK1/2, AKT, nuclear factor-kappaB, and beta-catenin signaling pathways; 2) selective inhibition of EP2 and EP4 suppresses these cell survival pathways and augments interactions between proapoptotic proteins (Bax and Bad) and antiapoptotic proteins (Bcl-2/Bcl-XL), facilitates the release of cytochrome c, and thus activates caspase-3/poly (ADP-ribose) polymerase-mediated intrinsic apoptotic pathways; and 3) these PGE (2) signaling components are more abundantly expressed in ectopic endometriosis tissues compared with eutopic endometrial tissues during the menstrual cycle in women.", "output": {"entities": {"gene": [{"text": "EP4", "start": 117, "end": 120}], "disease": [{"text": "endometriosis", "start": 631, "end": 644}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EP4", "start": 117, "end": 120}, "tail": {"text": "endometriosis", "start": 631, "end": 644}}]}}, "schema": []}
{"input": "Sixteen of the 143 (11. 1%) KT recipients had sustained severe anemia (SSA) with hemoglobin lower than 7. 0 g/dl, after 4 weeks post-transplant.", "output": {"entities": {"gene": [{"text": "SSA", "start": 71, "end": 74}], "disease": [{"text": "severe anemia", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "A promoter SNP (-131C--> G) in CHI3L1, the chitinase 3-like 1 gene encoding YKL-40, was associated with elevated serum YKL-40 levels (P = 1. 1 x 10 (-13)), asthma (P = 0. 047), bronchial hyperresponsiveness (P = 0. 002), and measures of pulmonary function (P = 0. 046 to 0. 002) in the Hutterites.", "output": {"entities": {"gene": [{"text": "chitinase 3-like 1 gene", "start": 43, "end": 66}], "disease": [{"text": "pulmonary function", "start": 237, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "The probands were either heterozygous or compound heterozygous for SGLT2 mutations, and had glucosuria quantified at 6-27 g/day.", "output": {"entities": {"gene": [{"text": "SGLT2", "start": 67, "end": 72}], "disease": [{"text": "glucosuria", "start": 92, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGLT2", "start": 67, "end": 72}, "tail": {"text": "glucosuria", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "Further, the strength of these associations increased after removing the SQ component from HSI and FTND scores in both the EA and AA samples, suggesting that ARRB1 and ARRB2 play an important role in biological processes involved in the regulation of smoking urgency (that is time to smoke first cigarette).", "output": {"entities": {"gene": [{"text": "ARRB1", "start": 158, "end": 163}], "disease": [{"text": "smoking", "start": 251, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Potential role of microsomal prostaglandin E synthase-1 in tumorigenesis.", "output": {"entities": {"gene": [{"text": "microsomal prostaglandin E synthase-1", "start": 18, "end": 55}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the expression of insulin-like growth factor II mRNA-binding protein (IMP3), CK8/18, and CK14 in BRCA mutated and sporadic invasive breast carcinoma.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 82, "end": 86}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "DEC1 (BHLHE40/Stra13/Sharp2) and DEC2 (BHLHE41/Sharp1) are basic helix-loop-helix (bHLH) transcription factors that are involved in the regulation of apoptosis, cell proliferation, circadian rhythms and the response to hypoxia.", "output": {"entities": {"gene": [{"text": "Sharp1", "start": 47, "end": 53}], "disease": [{"text": "circadian rhythms", "start": 181, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.", "output": {"entities": {"gene": [{"text": "STAB1", "start": 0, "end": 5}], "disease": [{"text": "BD", "start": 168, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAB1", "start": 0, "end": 5}, "tail": {"text": "BD", "start": 168, "end": 170}}]}}, "schema": []}
{"input": "The results lead to the suggestion that treatment with tricyclic antidepressants leads to changes in the EAAC1 mRNA expression in rat brain suggesting involvement of the glutamate system in the tricyclic treatment of depression.", "output": {"entities": {"gene": [{"text": "EAAC1", "start": 105, "end": 110}], "disease": [{"text": "depression", "start": 217, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAC1", "start": 105, "end": 110}, "tail": {"text": "depression", "start": 217, "end": 227}}]}}, "schema": []}
{"input": "Analysis of genes differentially expressed in MUC1-transformed cells has identified a network linking MUC1 and STAT1 that is associated with cellular growth and inflammation.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 111, "end": 116}], "disease": [{"text": "inflammation", "start": 161, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In addition, mice with a Scn8a loss-of-function mutation (Scn8a (med-Tg/+)) show altered anxiety and depression-like phenotypes.", "output": {"entities": {"gene": [{"text": "Scn8a", "start": 25, "end": 30}], "disease": [{"text": "anxiety", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "DAB1, VLDLR/APOER2, FYN/SRC and CRK/CRKL) are deficient have the similar phenotype as the reeler mice (Reelin (-/-)), we hypothesized that the Reelin signaling pathway genes might play roles in the etiology of autism.", "output": {"entities": {"gene": [{"text": "CRK", "start": 32, "end": 35}], "disease": [{"text": "autism", "start": 210, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "To assess the incidence of different FSH receptor genotypes in normogonadotropic anovulatory infertile women (World Health Organization class II) and normo-ovulatory controls and to correlate these genotypes with baseline characteristics and ovarian responsiveness during ovulation induction.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 37, "end": 49}], "disease": [{"text": "infertile", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Notably, miR-532-5p regulated the nuclear expression of & #946;-catenin and activation of Wnt/& #946;-catenin signaling in bladder cancer cells.", "output": {"entities": {"gene": [{"text": "miR-532", "start": 9, "end": 16}], "disease": [{"text": "bladder cancer", "start": 123, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-532", "start": 9, "end": 16}, "tail": {"text": "bladder cancer", "start": 123, "end": 137}}]}}, "schema": []}
{"input": "Lysyl oxidase may play a critical role in hypoxia-induced NSCLC cells invasion and migration.", "output": {"entities": {"gene": [{"text": "Lysyl oxidase", "start": 0, "end": 13}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Herein, we evaluated the antitumor effects of intratumoral injection of RGD fiber-mutant adenoviral vectors (AdRGDs) encoding the chemokines CCL17, CCL19, CCL20, CCL21, CCL22, CCL27, XCL1 or CX3CL1 in a murine model of preexisting CT26 colon carcinoma.", "output": {"entities": {"gene": [{"text": "CCL20", "start": 155, "end": 160}], "disease": [{"text": "colon carcinoma", "start": 236, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Considering that gene polymorphisms have been implicated in the development of gliomas, we performed an association study between SPP1 functional promoter region polymorphisms and glioma risk in a Chinese population.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 130, "end": 134}], "disease": [{"text": "glioma", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Gene aberrations include translocation t (15, 19) (q13, p13. 1) fusion oncogene BRD4-NUT, DNA repair genes (ERCC1, ERCC2, XRCC1), TGFβ1 pathway activation genes (TGFB1, LTBP4), Dyrk1B, and potential oncogenesis protector genes such as NFkB pathway inhibition genes (NFKBIB, PPP1R13L) and EGLN2.", "output": {"entities": {"gene": [{"text": "NFKBIB", "start": 266, "end": 272}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The recurrent t (14; 19) (q32; q13) translocation associated with chronic B-cell lymphoproliferative disorders, such as atypical chronic lymphocytic leukemia, results in the juxtaposition of the IGH @and BCL3 genes and subsequent overexpression of BCL3.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 204, "end": 208}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy.", "output": {"entities": {"gene": [{"text": "COL4A3", "start": 83, "end": 89}], "disease": [{"text": "mild", "start": 188, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the role of recombinant alpha-1-antichymotrypsin (rACT P3-P3'), an endogenous serine protease inhibitor, in ameliorating lung injury associated with pancreatitis.", "output": {"entities": {"gene": [{"text": "alpha-1-antichymotrypsin", "start": 62, "end": 86}], "disease": [{"text": "pancreatitis", "start": 187, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Here we demonstrate that chronic mild stress-induced anhedonic behavior is associated with disturbed diurnal oscillation of the expression of Clock, Cry2, Per1, Per3, Id2, Rev-erbα, Ror-β and Ror-γ in the mouse basolateral amygdala.", "output": {"entities": {"gene": [{"text": "Per3", "start": 161, "end": 165}], "disease": [{"text": "mild", "start": 33, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report the identification of a heterozygous missense mutation (D18N) in TREX1 encoding the 3'-5' repair exonuclease 1 in affected individuals of the family with chilblain lupus.", "output": {"entities": {"gene": [{"text": "TREX1", "start": 90, "end": 95}], "disease": [{"text": "chilblain lupus", "start": 179, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TREX1", "start": 90, "end": 95}, "tail": {"text": "chilblain lupus", "start": 179, "end": 194}}]}}, "schema": []}
{"input": "Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.", "output": {"entities": {"gene": [{"text": "EDAR", "start": 43, "end": 47}], "disease": [{"text": "HED", "start": 100, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDAR", "start": 43, "end": 47}, "tail": {"text": "HED", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "Interestingly, the expression of presenilin-1 in human U87 MG astrocytoma and human SK-N-SH neuroblastoma cells is only increased when cells are treated with glial cell line-derived neurotrophic factor or transforming growth factor-beta3.", "output": {"entities": {"gene": [{"text": "U87", "start": 55, "end": 58}], "disease": [{"text": "astrocytoma", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy.", "output": {"entities": {"gene": [{"text": "MPV17", "start": 32, "end": 37}], "disease": [{"text": "Navajo neurohepatopathy", "start": 127, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPV17", "start": 32, "end": 37}, "tail": {"text": "Navajo neurohepatopathy", "start": 127, "end": 150}}]}}, "schema": []}
{"input": "Moreover, we have concluded that the tested blood group systems (as opposed to their role in graft vs host disease after transplantations) have no effect on fetal MCH.", "output": {"entities": {"gene": [{"text": "MCH", "start": 163, "end": 166}], "disease": [{"text": "graft vs host disease", "start": 93, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "RT-PCR analysis showed that all of the non-neoplastic pituitaries and all GH-producing adenomas, one prolactinoma and one third of the non-functioning adenomas expressed GHRH-R mRNA.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 170, "end": 174}], "disease": [{"text": "non-neoplastic", "start": 39, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Compared with the control group, postconditioning with inhalation of isoflurane or infusion of emulsified isoflurane remarkably enhanced the expression of phosphorylation of JAK2 Tyr (1007)/Tyr (1008) and STAT3 Tyr (705), but not phosphorylation of STAT1 Tyr (701).", "output": {"entities": {"gene": [{"text": "STAT1", "start": 249, "end": 254}], "disease": [{"text": "inhalation", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Amelioration by chicory seed extract of diabetes-and oleic acid-induced non-alcoholic fatty liver disease (NAFLD)/non-alcoholic steatohepatitis (NASH) via modulation of PPAR & #945; and SREBP-1.", "output": {"entities": {"gene": [{"text": "SREBP-1", "start": 186, "end": 193}], "disease": [{"text": "non-alcoholic steatohepatitis", "start": 114, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SREBP-1", "start": 186, "end": 193}, "tail": {"text": "non-alcoholic steatohepatitis", "start": 114, "end": 143}}]}}, "schema": []}
{"input": "We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).", "output": {"entities": {"gene": [{"text": "AMP", "start": 186, "end": 189}], "disease": [{"text": "depression", "start": 73, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 186, "end": 189}, "tail": {"text": "depression", "start": 73, "end": 83}}]}}, "schema": []}
{"input": "Since markers of inflammation are supposed to predict type 2 diabetes, interleukin-6 (IL-6) and C-reactive protein (CRP) in combination with parameters of obesity, insulin resistance and hyperandrogenism were determined in 57 PCOS women and in 20 age-matched healthy controls.", "output": {"entities": {"gene": [{"text": "CRP", "start": 116, "end": 119}], "disease": [{"text": "insulin resistance", "start": 164, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that carriers of the LPL × 447 allele benefit from moderate alcohol consumption and a diet high in unsaturated fat to minimize reduction of blood HDL-C concentrations and that obese persons who do not carry the LPL × 447 allele need to control body weight to prevent hypertriglyceridemia.", "output": {"entities": {"gene": [{"text": "LPL", "start": 42, "end": 45}], "disease": [{"text": "body weight", "start": 265, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria.", "output": {"entities": {"gene": [{"text": "HPD", "start": 106, "end": 109}], "disease": [{"text": "hawkinsinuria", "start": 140, "end": 153}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HPD", "start": 106, "end": 109}, "tail": {"text": "hawkinsinuria", "start": 140, "end": 153}}]}}, "schema": []}
{"input": "These results reveal a regulatory role of p16 gene methylation on osteoblasts activation during the development of skeletal fluorosis.", "output": {"entities": {"gene": [{"text": "p16", "start": 42, "end": 45}], "disease": [{"text": "fluorosis", "start": 124, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p16", "start": 42, "end": 45}, "tail": {"text": "fluorosis", "start": 124, "end": 133}}]}}, "schema": []}
{"input": "TRD and TRAIL are effective to induce apoptosis and decrease proliferation in human fibrosarcoma.", "output": {"entities": {"gene": [{"text": "TRD", "start": 0, "end": 3}], "disease": [{"text": "fibrosarcoma", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "A novel presenilin 1 mutation associated with Pick' s disease but not beta-amyloid plaques.", "output": {"entities": {"gene": [{"text": "presenilin 1", "start": 8, "end": 20}], "disease": [{"text": "Pick' s disease", "start": 46, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "presenilin 1", "start": 8, "end": 20}, "tail": {"text": "Pick' s disease", "start": 46, "end": 61}}]}}, "schema": []}
{"input": "Higher hemoglobin levels were associated with higher IQ in the children who carried the wild-type allele DRD2, but in children homozygous for the variant allele, an increase of 1 g/dL hemoglobin was associated with a decrease in 1. 82 points of IQ (95% CI,-5. 28 to 1. 64; interaction term p-value = 0. 02).", "output": {"entities": {"gene": [{"text": "DRD2", "start": 105, "end": 109}], "disease": [{"text": "hemoglobin", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Amelioration of arthritis through mobilization of peptide-specific CD8 + regulatory T cells.", "output": {"entities": {"gene": [{"text": "CD8", "start": 67, "end": 70}], "disease": [{"text": "arthritis", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The observations concerning both SP and NK-1 R were most evident for tenocytes in tendinosis tendons.", "output": {"entities": {"gene": [{"text": "NK-1", "start": 40, "end": 44}], "disease": [{"text": "tendinosis", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 52, "end": 55}], "disease": [{"text": "infertile", "start": 95, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC.", "output": {"entities": {"gene": [{"text": "PARN", "start": 48, "end": 52}], "disease": [{"text": "DC", "start": 163, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PARN", "start": 48, "end": 52}, "tail": {"text": "DC", "start": 163, "end": 165}}]}}, "schema": []}
{"input": "Serum concentrations of IL-2, IL-4, IL-10, and IL-12 were measured in patients with DCM (WHO criteria), relatives with asymptomatic left ventricular enlargement (LVE), patients with ischaemic heart failure (IHD), and healthy controls.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 24, "end": 28}], "disease": [{"text": "asymptomatic", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Recent research into this disease has also correlated Annexin-1 (ANXA1), a glucocorticoid-inducible protein, with the development of breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 65, "end": 70}], "disease": [{"text": "tumorigenesis", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and L1007finsC) SNPs in 87 asymptomatic serologically H. pylori-positive individuals (Group I), in 63 patients with antrum-predominant gastritis (Group II) and in 60 patients with corpus-predominant gastritis or pangastritis (Group III).", "output": {"entities": {"gene": [{"text": "CARD15", "start": 75, "end": 81}], "disease": [{"text": "asymptomatic", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Although these results suggested that TNFR2 might have a protective role in bone resorption, we could not exclude the possibility that TNFR2 has no role in bone resorption.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 38, "end": 43}], "disease": [{"text": "bone resorption", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Therefore, this study examined the association between the bone mass and RANKL, RANK, and OPG gene polymorphisms in 198 girls diagnosed with AIS.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 73, "end": 78}], "disease": [{"text": "bone mass", "start": 59, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that ALAP, PLOD1, ICAM1, LIPC, and CNR2 are susceptibility loci for reduced bone mass in Japanese women and that GJA4 constitutes such a locus in Japanese men.", "output": {"entities": {"gene": [{"text": "PLOD1", "start": 33, "end": 38}], "disease": [{"text": "bone mass", "start": 98, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "To explore the renoprotective effects of ACE2 overexpression, ACE inhibition (ACEI) or both on diabetic nephropathy and the potential mechanisms involved, 50 Wistar rats were randomly divided into a normal group that received an injection of sodium citrate buffer and a diabetic model group that received an injection of 60 mg/kg streptozotocin.", "output": {"entities": {"gene": [{"text": "ACE2", "start": 41, "end": 45}], "disease": [{"text": "diabetic nephropathy", "start": 95, "end": 115}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACE2", "start": 41, "end": 45}, "tail": {"text": "diabetic nephropathy", "start": 95, "end": 115}}]}}, "schema": []}
{"input": "This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 62, "end": 67}], "disease": [{"text": "Rett syndrome", "start": 160, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 62, "end": 67}, "tail": {"text": "Rett syndrome", "start": 160, "end": 173}}]}}, "schema": []}
{"input": "We used a consecutive series of 191 sporadic colorectal cancers to find out if there were any differences between the two groups of tumors regarding the prevalence of mutations in the APC, KRAS, TP53, and TGFbetaR2 genes.", "output": {"entities": {"gene": [{"text": "TP53", "start": 195, "end": 199}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We screened 81 ovarian tumours (30 BRCA1 associated, 18 BRCA2 associated, and 33 sporadic) for somatic TP53 mutations using both DNA analysis and immunostaining.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 56, "end": 61}], "disease": [{"text": "sporadic", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "To investigate the presence and possible function of ether-à-go-go-related gene (erg) K (+) channels in human lactotroph cells (HERG channels), primary cultures were prepared from human prolactinoma tissue.", "output": {"entities": {"gene": [{"text": "HERG", "start": 128, "end": 132}], "disease": [{"text": "prolactinoma", "start": 186, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "In a multivariate analysis adjusting for line of therapy, mono-versus platinum and nonplatinum combination therapy, age, sex, histology, and smoking status, the only variable associated with prolonged PFS on pemetrexed was ALK + (hazard ratio = 0. 36 [95% confidence interval: 0. 17-0. 73], p = 0. 0051).", "output": {"entities": {"gene": [{"text": "ALK", "start": 223, "end": 226}], "disease": [{"text": "mono", "start": 58, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "A robust and reproducible transcriptional response involving coordinate induction of multiple immediate-early (fos, jun, egr1, egr3, atf3, arc, nr4a1) and stress response genes (Ndrg4, Mt1B, Mt1E, Mt1F, Mt1H) was selectively induced in HDACi sensitive cells.", "output": {"entities": {"gene": [{"text": "egr1", "start": 121, "end": 125}], "disease": [{"text": "arc", "start": 139, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The PTEN (phosphatase and tensin homologue deleted in chromosome ten) gene has been identified as a tumor suppressor gene responsible for cancers of the endometrium, ovary, prostate, and glioblastomas.", "output": {"entities": {"gene": [{"text": "tensin", "start": 26, "end": 32}], "disease": [{"text": "cancers", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Ubiquitous transgenic expression of the IL-23 subunit p19 induces multiorgan inflammation, runting, infertility, and premature death.", "output": {"entities": {"gene": [{"text": "p19", "start": 54, "end": 57}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Here we report the identification of heterozygous missense mutations in the CTNNA1 gene (encoding & #945;-catenin 1) in three families with butterfly-shaped pigment dystrophy.", "output": {"entities": {"gene": [{"text": "CTNNA1", "start": 76, "end": 82}], "disease": [{"text": "butterfly-shaped pigment dystrophy", "start": 140, "end": 174}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTNNA1", "start": 76, "end": 82}, "tail": {"text": "butterfly-shaped pigment dystrophy", "start": 140, "end": 174}}]}}, "schema": []}
{"input": "Consistently, downregulation of Ctr1 suppresses cisplatin toxicity, including cell death by both apoptosis and necrosis.", "output": {"entities": {"gene": [{"text": "Ctr1", "start": 32, "end": 36}], "disease": [{"text": "necrosis", "start": 111, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ctr1", "start": 32, "end": 36}, "tail": {"text": "necrosis", "start": 111, "end": 119}}]}}, "schema": []}
{"input": "We conclude that SLC3A1 is still the major disease gene among Swedish cystinuria patients, with only a minor contribution of SLC7A9 mutations as the genetic basis of cystinuria.", "output": {"entities": {"gene": [{"text": "SLC7A9", "start": 125, "end": 131}], "disease": [{"text": "cystinuria", "start": 70, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC7A9", "start": 125, "end": 131}, "tail": {"text": "cystinuria", "start": 70, "end": 80}}]}}, "schema": []}
{"input": "Suppression of SHIP2 contributes to tumorigenesis and proliferation of gastric cancer cells via activation of Akt.", "output": {"entities": {"gene": [{"text": "SHIP2", "start": 15, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3 & #183; 29, 1 & #183; 47-7 & #183; 37, 5 & #183; 40 & #215; 10 (-3)) and rs3887412 in ABCC1 (3 & #183; 36, 1 & #183; 47-7 & #183; 67, p = 5 & #183; 70 & #215; 10 (-3)).", "output": {"entities": {"gene": [{"text": "DPYD", "start": 184, "end": 188}], "disease": [{"text": "peripheral neuropathy", "start": 31, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPYD", "start": 184, "end": 188}, "tail": {"text": "peripheral neuropathy", "start": 31, "end": 52}}]}}, "schema": []}
{"input": "Some marginal associations could be observed for DDC with suicide, violence, anger, and aggression.", "output": {"entities": {"gene": [{"text": "DDC", "start": 49, "end": 52}], "disease": [{"text": "suicide", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The nitric oxide synthase 1 (NOS1) gene is a candidate for this role because exhaled nitric oxide (NO) is reduced in patients with CF and NOS1 activity contributes to transepithelial ionic transport, immune defence, and non-specific inflammation of the airways.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 29, "end": 33}], "disease": [{"text": "inflammation", "start": 233, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Our findings show ODZ4 as a risk gene for SCZ, emphasizing the existence of common vulnerability in psychosis.", "output": {"entities": {"gene": [{"text": "ODZ4", "start": 18, "end": 22}], "disease": [{"text": "psychosis", "start": 100, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ODZ4", "start": 18, "end": 22}, "tail": {"text": "psychosis", "start": 100, "end": 109}}]}}, "schema": []}
{"input": "Our findings demonstrate that caspases participate in important pathogenic mechanisms in Gly-ARF such as inflammation, apoptosis, vasoconstriction, and tubular necrosis.", "output": {"entities": {"gene": [{"text": "ARF", "start": 93, "end": 96}], "disease": [{"text": "inflammation", "start": 105, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The correlations between the levels of serum lncRNA RP11-445H22. 4 in breast cancer patients and the clinicopathological factors of these patients were further analyzed.", "output": {"entities": {"gene": [{"text": "RP11-445H22. 4", "start": 52, "end": 66}], "disease": [{"text": "breast cancer", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Results from the present study show that PRR is expressed in pituitary adenoma cells and regulates growth hormone (GH) release via V-ATPase-induced cellular acidification.", "output": {"entities": {"gene": [{"text": "PRR", "start": 41, "end": 44}], "disease": [{"text": "pituitary adenoma", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These effects of ketamine rapidly reverse the atrophy of PFC neurons caused by chronic stress and correspond to rapid behavioural actions of ketamine in models of depression.", "output": {"entities": {"gene": [{"text": "PFC", "start": 57, "end": 60}], "disease": [{"text": "atrophy", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Recombinant proteins from two genes identified in this manner, Sui1 and RalA were expressed, purified and used as antigens in immunoassays to detect the presence of antibodies in sera from 77 patients with HCC, 30 with chronic hepatitis (CH), 30 with liver cirrhosis (LC) and 82 normal human sera (NHS).", "output": {"entities": {"gene": [{"text": "HCC", "start": 206, "end": 209}], "disease": [{"text": "chronic hepatitis", "start": 219, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "For this reason, NPY Y5 receptor antagonists may be useful in medical management of alcohol abuse and alcoholism in the human population.", "output": {"entities": {"gene": [{"text": "NPY Y5 receptor", "start": 17, "end": 32}], "disease": [{"text": "alcohol abuse", "start": 84, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY Y5 receptor", "start": 17, "end": 32}, "tail": {"text": "alcohol abuse", "start": 84, "end": 97}}]}}, "schema": []}
{"input": "Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.", "output": {"entities": {"gene": [{"text": "WNT10A", "start": 42, "end": 48}], "disease": [{"text": "odonto-onycho-dermal dysplasia", "start": 7, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT10A", "start": 42, "end": 48}, "tail": {"text": "odonto-onycho-dermal dysplasia", "start": 7, "end": 37}}]}}, "schema": []}
{"input": "Although the combination of heregulin and troglitazone (HRG/TGZ) induced both apoptosis and necrosis, the main mode of cell death was caspase-independent and occurred via necrosis.", "output": {"entities": {"gene": [{"text": "HRG", "start": 56, "end": 59}], "disease": [{"text": "necrosis", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "This may reflect differential roles of miR-21, miR-26a, miR-29a, and miR-142-3p in T-cell immunity against M. tuberculosis infection and disease.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 39, "end": 45}], "disease": [{"text": "tuberculosis infection", "start": 110, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for age, smoking and body mass index, there was no significant difference in TRF lengths between the treated breast cancer patients and unaffected controls (P = 0. 71).", "output": {"entities": {"gene": [{"text": "TRF", "start": 93, "end": 96}], "disease": [{"text": "body mass index", "start": 37, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Fractalkine is a unique Th1 CX3C chemokine known to induce adhesion and migration of leukocytes mediated by both, a membrane-bound and soluble form, respectively.", "output": {"entities": {"gene": [{"text": "Th1", "start": 24, "end": 27}], "disease": [{"text": "adhesion", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In the 17 patients with PDRGs, the cirrhosis was attributed preoperatively to A1AT deficiency (3 patients), ethanol abuse, viral hepatitis, or both (10 patients), cryptogenic cirrhosis (3 patients), and autoimmune hepatitis (1 patient).", "output": {"entities": {"gene": [{"text": "A1AT", "start": 78, "end": 82}], "disease": [{"text": "ethanol abuse", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the effects of the p21-activated kinase 4 (Pak4) gene on Hep-2 laryngeal carcinoma cells in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "Pak4", "start": 81, "end": 85}], "disease": [{"text": "laryngeal carcinoma", "start": 101, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Glycemias and other parameters (HbA1c, IGF1, height, weight, quality of life (QoL), and satisfaction) were monitored at each monthly visit.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 39, "end": 43}], "disease": [{"text": "weight", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Galectins are a group of β-galactoside-binding mammalian lectins that play important roles in the regulation of the immune response by promoting T cell tolerance, blunting Th1 and Th17 responses and suppressing autoimmune inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 172, "end": 175}], "disease": [{"text": "inflammation", "start": 222, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Inoculation of CTCL cell lines into nonobese diabetic/Shi-scid interleukin 2γ (IL-2γ) null mice led to CTCL cell migration to multiple organs; however, prior transfection of the cells with miR-150 substantially reduced the invasion/metastasis by directly downregulating CCR6, a specific receptor for the chemokine CCL20.", "output": {"entities": {"gene": [{"text": "CCR6", "start": 270, "end": 274}], "disease": [{"text": "scid", "start": 58, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The possible mechanisms involved, besides the effect on blood pressure, might be related to pleiotropic functions of the HMGCR, and remain to be explored.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 121, "end": 126}], "disease": [{"text": "blood pressure", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Herein, we discuss the molecular mechanisms leading to FXS and the Prader-Willi phenotype with an emphasis on mouse FMR1 knockout studies that have shown the reversal of weight increase through mGluR antagonists.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 116, "end": 120}], "disease": [{"text": "weight increase", "start": 170, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "FoxO3a was detected primarily in the sublining T lymphocytes of synovium from patients with RA compared with the lining layer tissue from patients with RA and OA, underlying a role for FoxO3a proteins in inflammation in RA.", "output": {"entities": {"gene": [{"text": "FoxO3a", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 204, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "One such paradigm exists in the developing nervous system, where neuronal migration is mediated by a balance between chemoattractive and chemorepulsive signals.", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 65, "end": 83}], "disease": [{"text": "nervous system", "start": 43, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of the tumour suppressor gene PTEN in the tumorigenesis and growth of sporadic vestibular schwannomas, and to characterize the cellular distribution of the PTEN protein in relation to the MIB-1 proliferation index in these tumour.", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 212, "end": 217}], "disease": [{"text": "sporadic", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "As oxygen concentrations in the UGT are low under physiological conditions (O (2) < 5%) and further decrease during an inflammatory process, we wondered whether antibacterial properties of IFN-γ are maintained under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "UGT", "start": 32, "end": 35}], "disease": [{"text": "hypoxic", "start": 216, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the addition of IL-10 to PBMC cultures of 3 schistosomiasis patients and 2 cured subjects who had high lymphoproliferative responses to SWAP resulted in the suppression of these responses by 90%, and completely suppressed IFN-gamma production in one of the subjects, whose PBMC produced IFN-gamma after stimulation with SWAP.", "output": {"entities": {"gene": [{"text": "SWAP", "start": 146, "end": 150}], "disease": [{"text": "schistosomiasis", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We also report characterization of five polymorphic sites in HGO and describe the haplotypic associations of alleles at these sites in normal and AKU chromosomes.", "output": {"entities": {"gene": [{"text": "HGO", "start": 61, "end": 64}], "disease": [{"text": "AKU", "start": 146, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HGO", "start": 61, "end": 64}, "tail": {"text": "AKU", "start": 146, "end": 149}}]}}, "schema": []}
{"input": "We investigated the role of PARP in regulating ET-1 expression and ET-1-induced abnormalities in the targets organs of diabetic complications.", "output": {"entities": {"gene": [{"text": "PARP", "start": 28, "end": 32}], "disease": [{"text": "abnormalities", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We determined effects of the vasopeptidase inhibitor (VPI) omapatrilat and angiotensin II type 1 receptor (AT (1) R) blocker (ARB) candesartan in rats during healing between day-2 and day-21 after reperfused myocardial infarction (RMI) on left ventricular (LV) remodeling and function, and regional matrix metalloproteinase (MMP)-9, tissue inhibitor of MMP (TIMP)-3, inducible-nitric-oxide-synthase (iNOS), oxidant-generating myeloperoxidase (MPO), and cytokines tumor-necrosis-factor (TNF)-alpha, interleukin (IL)-6 and IL-10, and transforming-growth-factor (TGF)-beta (1), and collagens.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 358, "end": 362}], "disease": [{"text": "necrosis", "start": 469, "end": 477}]}, "relations": {}}, "schema": []}
{"input": "A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1).", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 141, "end": 146}], "disease": [{"text": "KS", "start": 137, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR1", "start": 141, "end": 146}, "tail": {"text": "KS", "start": 137, "end": 139}}]}}, "schema": []}
{"input": "Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.", "output": {"entities": {"gene": [{"text": "SLC22A18", "start": 182, "end": 190}], "disease": [{"text": "alcohol dependence", "start": 240, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC22A18", "start": 182, "end": 190}, "tail": {"text": "alcohol dependence", "start": 240, "end": 258}}]}}, "schema": []}
{"input": "A total of 127 genes were identified as being differentially expressed including MMSET and cyclin D2, which have been previously reported as being associated with this translocation.", "output": {"entities": {"gene": [{"text": "cyclin D2", "start": 91, "end": 100}], "disease": [{"text": "translocation", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "HIV-1 isolates obtained from plasma and CSF in 28 individuals with varying viral load, CD4 T-cell counts, and with or without AIDS-defining disease were analyzed for the ability to infect NP2. CD4 cells stably expressing a panel of HIV coreceptors (CCR5, CXCR4, CCR3, CXCR6, GPR1, APJ, ChemR23, RDC-1 or BLT1).", "output": {"entities": {"gene": [{"text": "CCR3", "start": 262, "end": 266}], "disease": [{"text": "viral load", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The relative quantification of P-selectin correlated negatively to total ischemic time (p = 0. 01), while genes related to fibrinolysis (t-PA, u-PA, PAI-1), inflammation (PTX3, CXCL9, MCP-1, IL18, TNFα) and plaque instability (MMP-2 and TIMP-1) correlated positively to total ischemic time (all < 0. 05).", "output": {"entities": {"gene": [{"text": "PTX3", "start": 171, "end": 175}], "disease": [{"text": "inflammation", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that activation of N-ras and K-ras genes, as well as loss of heterozygosity for specific alleles on chromosome 7, plays a more important role in the leukemogenesis of both therapy-related leukemia and myelodysplastic syndrome.", "output": {"entities": {"gene": [{"text": "N-ras", "start": 37, "end": 42}], "disease": [{"text": "therapy-related leukemia", "start": 190, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined the effect of soluble CD4 (sCD4) on host resistance and delayed-type hypersensitivity (DTH) response to Cryptococcus neoformans using a novel mutant mouse that exhibits a defect in the expression of membrane-bound CD4 but secretes high levels of sCD4 in the serum.", "output": {"entities": {"gene": [{"text": "CD4", "start": 56, "end": 59}], "disease": [{"text": "hypersensitivity", "start": 103, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "DNA microarry analysis showed significantly increased expression of a number of genes associated with inflammation and astrocytic activation in the spinal cords of rats that developed CNP.", "output": {"entities": {"gene": [{"text": "CNP", "start": 184, "end": 187}], "disease": [{"text": "inflammation", "start": 102, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "It appears that polymorphism of HSP70-2 gene is not directly associated with the susceptibility to peptic ulcer diseases but BB genotype is associated with an increased risk of duodenal ulcer in older subjects in the Japanese population.", "output": {"entities": {"gene": [{"text": "HSP70-2", "start": 32, "end": 39}], "disease": [{"text": "peptic ulcer", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants.", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 70, "end": 75}], "disease": [{"text": "DS", "start": 24, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN9A", "start": 70, "end": 75}, "tail": {"text": "DS", "start": 24, "end": 26}}]}}, "schema": []}
{"input": "The translocation t (8; 16) (p11; p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia.", "output": {"entities": {"gene": [{"text": "p11", "start": 29, "end": 32}], "disease": [{"text": "acute monocytic leukaemia", "start": 120, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Thus, s/s homozygous participants required minimal exposure to TLE (1 TLE) to acquire a level of risk for depression that was only found among l/s or l/l individuals after significantly higher exposure to TLEs (two or more TLEs).", "output": {"entities": {"gene": [{"text": "TLE (1", "start": 63, "end": 69}], "disease": [{"text": "depression", "start": 106, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLE (1", "start": 63, "end": 69}, "tail": {"text": "depression", "start": 106, "end": 116}}]}}, "schema": []}
{"input": "Together, these data suggest that phosphorylation of the SDT repeats in the MDC1 N terminus functions to recruit NBS1 and, thereby, increases the local concentration of MRN at the sites of chromosomal breakage.", "output": {"entities": {"gene": [{"text": "NBS1", "start": 113, "end": 117}], "disease": [{"text": "chromosomal breakage", "start": 189, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "We have now examined the relationships of 22 candidate gene polymorphisms with the prevalence of hypertension and with blood pressure (BP) in a 6-year population-based longitudinal cohort study and observed significant relationships of three polymorphisms of SORBS1, GCK and WISP1 with hypertension.", "output": {"entities": {"gene": [{"text": "WISP1", "start": 275, "end": 280}], "disease": [{"text": "blood pressure", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "SELP-rs6136-AA and AKT1-rs1130233-AA/GA genotypes were associated with increased risk of developing cachexia in both cohorts (SELP: p = 0. 011 and p = 0. 045; AKT1: p = 0. 004 and p = 0. 019 for the first and second cohorts, respectively), while patients carrying AKT1-rs1130233-GG survived significantly longer (p = 0. 002 and p = 0. 004 for the first and second cohorts, respectively).", "output": {"entities": {"gene": [{"text": "SELP", "start": 0, "end": 4}], "disease": [{"text": "cachexia", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In the present case, however, the discordant expression of LFA-1/ICAM-1 adhesion molecules may have accounted for the distinct patterns of growth and the spread of the subcutaneous plasmacytoma through homing of the LFA-1 alpha +, LFA-1 beta + leukemic cells to ICAM-1 + endothelial cells.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 59, "end": 64}], "disease": [{"text": "adhesion", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The approach used and the results here presented may provide useful information for the study of other MLD patients, as well as new insights about the effect of mutations, such as C300F, in the structure/function of ARSA.", "output": {"entities": {"gene": [{"text": "ARSA", "start": 216, "end": 220}], "disease": [{"text": "MLD", "start": 103, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARSA", "start": 216, "end": 220}, "tail": {"text": "MLD", "start": 103, "end": 106}}]}}, "schema": []}
{"input": "Importantly, in HIV-infected individuals the levels of CD8 (+) CD127 (-) T cells are directly correlated with the main markers of disease progression (i. e., plasma viremia and CD4 (+) T cell depletion) as well as with the indices of overall T cell activation.", "output": {"entities": {"gene": [{"text": "CD4", "start": 177, "end": 180}], "disease": [{"text": "viremia", "start": 165, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "B-cell attracting chemokines may therefore have relevance in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNPs) Methods: Polyp and inferior turbinate tissues were obtained from CRSwNPs, CRS without NPs (CRSsNPs), and control patients; ELISA and reverse-transcription polymerase chain reaction were used to detect levels of protein and mRNA for selected B-cell chemokines (B-cell attracting chemokine 1 [CXCL13/BCA-1/BLC]), thymus expressed chemokine (CCL25/TECK), mucosae-associated epithelial chemokine (CCL28/MEC), stromal cell-derived factor-1alpha (CXCL12/SDF-1alpha), and selected chemokine receptor genes (CXCR4, CXCR5, and CXCR7).", "output": {"entities": {"gene": [{"text": "CCL28", "start": 525, "end": 530}], "disease": [{"text": "chronic rhinosinusitis", "start": 81, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Lysyl oxidase is essential for hypoxia-induced metastasis.", "output": {"entities": {"gene": [{"text": "Lysyl oxidase", "start": 0, "end": 13}], "disease": [{"text": "hypoxia", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Retrospective analysis of local-regional recurrence that occurred during follow-up of 51 consecutive patients operated for a sporadic (n = 26) or hereditary (n = 25) EAP.", "output": {"entities": {"gene": [{"text": "EAP", "start": 166, "end": 169}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.", "output": {"entities": {"gene": [{"text": "MKP3", "start": 72, "end": 76}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKP3", "start": 72, "end": 76}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "Although PTEN (phosphatase and tensin homologue deleted on chromosome 10) is one of the most commonly mutated tumour suppressors in human cancers, loss of PTEN expression in the absence of mutation appears to occur in an even greater number of tumours.", "output": {"entities": {"gene": [{"text": "tensin", "start": 31, "end": 37}], "disease": [{"text": "cancers", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of Trx1 in H1299 cells utilizing an inducible construct increased cell survival during hyperoxia, whereas siRNA knockdown of Trx1 during oxygen treatment reduced cell viability.", "output": {"entities": {"gene": [{"text": "Trx1", "start": 18, "end": 22}], "disease": [{"text": "hyperoxia", "start": 102, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The continuation of fetal allergen-specific Th2 responses during infancy is a defining feature of the inductive phase of atopic disease, and is associated with decreased capacity for production of the Th1 cytokine interferon y by atopic neonates.", "output": {"entities": {"gene": [{"text": "Th1", "start": 201, "end": 204}], "disease": [{"text": "atopic", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Treatment with two doses of 25 micrograms misoprostol/kg body weight at 1 min before ischemia and 1 min before reperfusion significantly reduced the serum levels of OCT and ALT (207 +/-189 IU/liter, P less than 0. 01 and 2075 +/-1217 IU/liter, P less than 0. 01, respectively) and hepatic necrosis.", "output": {"entities": {"gene": [{"text": "OCT", "start": 165, "end": 168}], "disease": [{"text": "hepatic necrosis", "start": 281, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI had detected a spectrum of malformations of cortical development including polymicrogyria or pachygyria, who were mutation-negative to other possible causative genes.", "output": {"entities": {"gene": [{"text": "MRI", "start": 40, "end": 43}], "disease": [{"text": "malformations of cortical development", "start": 160, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency.", "output": {"entities": {"gene": [{"text": "NAGS", "start": 55, "end": 59}], "disease": [{"text": "NAGS deficiency", "start": 132, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAGS", "start": 55, "end": 59}, "tail": {"text": "NAGS deficiency", "start": 132, "end": 147}}]}}, "schema": []}
{"input": "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 17, "end": 38}], "disease": [{"text": "Hunter syndrome", "start": 89, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 17, "end": 38}, "tail": {"text": "Hunter syndrome", "start": 89, "end": 104}}]}}, "schema": []}
{"input": "The risk analysis showed that under a dominant model, the LIPC C-514T polymorphism was associated with increased risk of type 2 diabetes (OR = 1. 42, P = 0. 029), hypertriglyceridemia (OR = 1. 36, P = 0. 006), and coronary artery calcification (CAC) ≥ 1 (OR = 1. 44, P = 0. 015) and decreased risk of hypoalphalipoproteinemia (OR = 0. 78, P = 0. 036).", "output": {"entities": {"gene": [{"text": "CAC", "start": 245, "end": 248}], "disease": [{"text": "coronary artery calcification", "start": 214, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "In this study, we screened 12 primary sporadic colorectal cancers with microsatellite instability for mutations in MSH2 and MLH1 by using reverse transcription-polymerase chain reaction (RT-PCR) and single-strand-conformation-variant (SSCV) analysis.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 115, "end": 119}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "PET investigations of [(18) F] FBA-FALGEA-NH (2) were performed on a MicroPET scanner, using seven nude mice xenografted subcutaneously with human glioblastoma multiforme (GBM) tumours, expressing the EGFRvIII in its native form, and five nude mice xenografted subcutaneously with GBM tumours lacking EGFRvIII expression.", "output": {"entities": {"gene": [{"text": "FBA", "start": 31, "end": 34}], "disease": [{"text": "glioblastoma multiforme", "start": 147, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations of BRCA1 and BRCA2 predispose to hereditary breast, ovarian, and possibly prostate cancer, yet structural mutations in these genes are infrequent in sporadic cancer cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 32, "end": 37}], "disease": [{"text": "sporadic", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 43, "end": 48}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We integrated the RNA-Seq results with DNA-binding sites of BRD4 generated by chromatin immunoprecipitations, correlated these with gene expressions from human prostate cancers and identified 21 top BRD4 candidate genes among which the oxidative stress pathway genes KEAP1, SESN3 and HDAC6 are represented.", "output": {"entities": {"gene": [{"text": "KEAP1", "start": 267, "end": 272}], "disease": [{"text": "prostate cancers", "start": 160, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KEAP1", "start": 267, "end": 272}, "tail": {"text": "prostate cancers", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "In order to precisely localize the susceptible locus for cardiac sarcoidosis within the HLA region, genetic polymorphisms of classical HLA genes, non-classical HLA class II genes such as HLA-DMA and-DMB genes and several genes involved in the class I-mediated antigen presentation pathway (TAP1, TAP2, LMP2 and LMP7) were investigated.", "output": {"entities": {"gene": [{"text": "LMP2", "start": 302, "end": 306}], "disease": [{"text": "cardiac sarcoidosis", "start": 57, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "injection of genetically engineered leukemia cells, dendritic cells (DCs) engulfed, processed and presented OVA to OVA-specific CD4 T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 128, "end": 131}], "disease": [{"text": "leukemia", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or \" pure \" encephalopathies with no gross morphological abnormalities in muscle.", "output": {"entities": {"gene": [{"text": "RRF", "start": 143, "end": 146}], "disease": [{"text": "encephalopathies", "start": 191, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Compared with those patients without lymph node metastasis, MGMT gene showed a higher proportion of hypermethylation in cancer tissues, whereas P16 gene showed a higher proportion of hypermethylation in remote normal-appearing esophageal tissues in patients with lymph node metastasis.", "output": {"entities": {"gene": [{"text": "MGMT gene", "start": 60, "end": 69}], "disease": [{"text": "esophageal", "start": 227, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Clinicopathological variables that might affect the prognosis of gastric cancer patients were analyzed by Cox regression analysis, which showed that MR-1 expression and TNM stage were independent predictors of postoperative survival.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 149, "end": 153}], "disease": [{"text": "gastric cancer", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "No relationship of FCRN expression with age at disease onset, age at diagnosis, diagnostic delay, IgG levels or frequency of infections before or during replacement immunoglobulin treatment, the presence of lung functional abnormalities, chronic diarrhea, granulomas, lymphadenopathy, splenomegaly or autoimmune phenomena was observed.", "output": {"entities": {"gene": [{"text": "FCRN", "start": 19, "end": 23}], "disease": [{"text": "infections", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "As these data suggested that NOX4-derived reactive oxygen species may convey a surprisingly protective effect during plaque progression, we examined a mouse model of accelerated and advanced diabetic atherosclerosis, the streptozotocin-treated ApoE (-/-) mouse, with (NOX4 (-/-)) and without genetic deletion of Nox4.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 312, "end": 316}], "disease": [{"text": "plaque", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Regarding G/A polymorphism at position-2964 in the 5'-flanking region, no significant difference was found in the plasma concentrations of HAL corrected for dose and weight between subjects with G/G (n = 24) and G/A (n = 15) (two-tailed t test: G/G and G/A = 51. 2 +/-16. 6 and 59. 0 +/-17. 6 ng/ml/mg/kg, respectively, df = 28, P =. 22).", "output": {"entities": {"gene": [{"text": "HAL", "start": 139, "end": 142}], "disease": [{"text": "weight", "start": 166, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We previously reported work establishing mice lacking the clock gene D-box binding protein (DBP) as a stress-reactive genetic animal model of bipolar disorder.", "output": {"entities": {"gene": [{"text": "DBP", "start": 92, "end": 95}], "disease": [{"text": "bipolar disorder", "start": 142, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Elastin microfibril interfacer 1 (EMILIN-1) is a negative regulator of the transforming growth factor-beta (TGF-beta) signaling, which is involved in blood pressure (BP) homeostasis.", "output": {"entities": {"gene": [{"text": "Elastin microfibril interfacer 1", "start": 0, "end": 32}], "disease": [{"text": "blood pressure", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus.", "output": {"entities": {"gene": [{"text": "RET", "start": 115, "end": 118}], "disease": [{"text": "FMTC", "start": 21, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 115, "end": 118}, "tail": {"text": "FMTC", "start": 21, "end": 25}}]}}, "schema": []}
{"input": "Multifocal occurrence, potential malignancy, and genetic aspect should be considered in patients with head and neck PGLs.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 116, "end": 120}], "disease": [{"text": "malignancy", "start": 33, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Cystatin B inhibition of TRAIL-induced apoptosis is associated with the protection of FLIP (L) from degradation by the E3 ligase itch in human melanoma cells.", "output": {"entities": {"gene": [{"text": "Cystatin B", "start": 0, "end": 10}], "disease": [{"text": "itch", "start": 129, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Mouse models with targeted disruption of Rai1 have recapitulated overt SMS phenotypes, including craniofacial abnormalities, obesity, and neurobehavioral anomalies.", "output": {"entities": {"gene": [{"text": "Rai1", "start": 41, "end": 45}], "disease": [{"text": "craniofacial abnormalities", "start": 97, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rai1", "start": 41, "end": 45}, "tail": {"text": "craniofacial abnormalities", "start": 97, "end": 123}}]}}, "schema": []}
{"input": "The chemokine fractalkine (CX (3) CL1) can directly mediate monocyte adhesion and activate VEGF-A and angiogenesis via its receptor CX (3) CR1 on monocytes and endothelium during inflammatory angiogenesis.", "output": {"entities": {"gene": [{"text": "CL1", "start": 34, "end": 37}], "disease": [{"text": "adhesion", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These H63D homozygotes presented extreme hyperferritinaemia and no additional mutations in HFE, TFR2, FPN1 and HAMP genes were detected.", "output": {"entities": {"gene": [{"text": "TFR2", "start": 96, "end": 100}], "disease": [{"text": "hyperferritinaemia", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that COX inhibitors may attenuate endothelial dysfunction during sepsis, as measured by receptor-mediated bradykinin (BK)-induced vasoconstriction and/or receptor-independent hypoxic pulmonary vasoconstriction (HPV).", "output": {"entities": {"gene": [{"text": "COX", "start": 21, "end": 24}], "disease": [{"text": "hypoxic", "start": 191, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Auditory hair cells of postnatal Cdc14a mutants develop normally, but subsequently degenerate causing deafness.", "output": {"entities": {"gene": [{"text": "Cdc14a", "start": 33, "end": 39}], "disease": [{"text": "deafness", "start": 102, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cdc14a", "start": 33, "end": 39}, "tail": {"text": "deafness", "start": 102, "end": 110}}]}}, "schema": []}
{"input": "We report a novel duplication of PDHA1 associated with a mild phenotype in a 15-year-old boy who was diagnosed with PDHC deficiency at 4 years of age following a history of seizures and lactic acidosis.", "output": {"entities": {"gene": [{"text": "PDHA1", "start": 33, "end": 38}], "disease": [{"text": "seizures and lactic acidosis", "start": 173, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "OVA-challenged Tie2-hABCA1 mice had significant reductions in total bronchoalveolar lavage fluid (BALF) cells that reflected a decrease in neutrophils, as well as reductions in peribronchial inflammation, OVA-specific IgE levels, and airway epithelial thickness.", "output": {"entities": {"gene": [{"text": "Tie2", "start": 15, "end": 19}], "disease": [{"text": "inflammation", "start": 191, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 116, "end": 137}], "disease": [{"text": "Hunter disease", "start": 31, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 116, "end": 137}, "tail": {"text": "Hunter disease", "start": 31, "end": 45}}]}}, "schema": []}
{"input": "Significant difference for cyclin D1 expression was found between esophageal carcinomas and the adjacent epithelia.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 27, "end": 36}], "disease": [{"text": "esophageal", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Limb spasticity, muscle weakness, and intellectual disability have also been observed in PRLTS patients.", "output": {"entities": {"gene": [{"text": "PRLTS", "start": 89, "end": 94}], "disease": [{"text": "muscle weakness", "start": 17, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "To determine why previously described mutated EYA4 alleles cause SNHL without heart disease, we examined biochemical interactions of mutant Eya4 peptides.", "output": {"entities": {"gene": [{"text": "Eya4", "start": 140, "end": 144}], "disease": [{"text": "heart disease", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity.", "output": {"entities": {"gene": [{"text": "PTCH1", "start": 36, "end": 41}], "disease": [{"text": "NBCCS", "start": 0, "end": 5}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTCH1", "start": 36, "end": 41}, "tail": {"text": "NBCCS", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "COPD patients with reversibility had increased sputum neutrophils, IL-8, and TNF-α levels compared to smoking asthmatics.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 77, "end": 82}], "disease": [{"text": "smoking", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "ODC genes in L1210 mouse leukaemia cells were apparently more methylated than in Ehrlich ascites carcinoma, as revealed by the use of HpaII endonuclease, yet the digestion of genomic DNA isolated from these two murine tumour cell lines with MspI, which cleaves at a CCGG sequence, also with internally methylated cytosine, resulted in an apparently identical restriction pattern.", "output": {"entities": {"gene": [{"text": "ODC", "start": 0, "end": 3}], "disease": [{"text": "carcinoma", "start": 97, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In the metaplasia-dysplasia-adenocarcinoma sequence, a chromosome 17 polysomy without Her-2/neu gene amplification was already present in LGD.", "output": {"entities": {"gene": [{"text": "neu gene", "start": 92, "end": 100}], "disease": [{"text": "metaplasia", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 366, "end": 372}], "disease": [{"text": "alcohol consumption", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The EWS/FLI translocation product is the causative oncogene in Ewing sarcoma and acts as an aberrant transcription factor.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The gene and protein expression of essential haematopoietic growth factors (IL-2, IL-4, IL-7, IL-10, IL-15, IFN-gamma, G-CSFR), their corresponding receptors as well as the expression pattern of adhesion molecules (ICAM-1, CD58) and costimulatory proteins (CD40, CD40L, B7. 1, B7. 2, CD28, MHC-I and II) was analyzed by RT-PCR and flow cytometry.", "output": {"entities": {"gene": [{"text": "IL-7", "start": 88, "end": 92}], "disease": [{"text": "adhesion", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Finnish type familial amyloidosis (FAF) is a neurodegenerative disease, which involves the deposition of D187N or-Y mutant gelsolin fragments as amyloid in various tissues, accompanied by dermatologic, neurologic, and ophthalmologic disorders.", "output": {"entities": {"gene": [{"text": "FAF", "start": 35, "end": 38}], "disease": [{"text": "neurodegenerative disease", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "This PC-3 variant was used to study tumor progression in an immunocompromised mouse model.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 5, "end": 9}], "disease": [{"text": "tumor progression", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Artesunate also prevented TNF-alpha-induced nuclear NF-kappaB translocation, DNA-binding activity and gene transcriptional activity, as well as phosphorylation and degradation of IkappaBalpha, but phosphorylation of p38 mitogen-activated protein kinase, extracellular signal-regulated kinase and c-Jun N-terminal kinase were unaffected.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 26, "end": 35}], "disease": [{"text": "translocation", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The long pentraxin PTX3 as a correlate of cancer-related inflammation and prognosis of malignancy in gliomas.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 19, "end": 23}], "disease": [{"text": "inflammation", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We set out to identify the parental origin of GNAS1 mutations in patients with AHO by searching for their mutation in the overlapping transcripts.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 46, "end": 51}], "disease": [{"text": "AHO", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS1", "start": 46, "end": 51}, "tail": {"text": "AHO", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "The gene encoding Dok1 maps to human chromosome 2p13, which is frequently rearranged in human tumors.", "output": {"entities": {"gene": [{"text": "Dok1", "start": 18, "end": 22}], "disease": [{"text": "tumors", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In the subset of 1, 942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association.", "output": {"entities": {"gene": [{"text": "SNAP25", "start": 128, "end": 134}], "disease": [{"text": "NDD", "start": 41, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNAP25", "start": 128, "end": 134}, "tail": {"text": "NDD", "start": 41, "end": 44}}]}}, "schema": []}
{"input": "We recently identified a nonselective cation channel, the NC (Ca-ATP) channel, in ischemic astrocytes that is regulated by sulfonylurea receptor 1 (SUR1), is opened by depletion of ATP and, when opened, causes cytotoxic edema.", "output": {"entities": {"gene": [{"text": "SUR1", "start": 148, "end": 152}], "disease": [{"text": "edema", "start": 220, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We report here the identification of distinct missense mutations in a skeletal/ventricular ELC and RLC, each of which are associated with a rare variant of cardiac hypertrophy as well as abnormal skeletal muscle.", "output": {"entities": {"gene": [{"text": "RLC", "start": 99, "end": 102}], "disease": [{"text": "cardiac hypertrophy", "start": 156, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the diseases due to mutations in GNPTA represent a clinical continuum between ML III and ML II, and the classification of these diseases should be based on the age of onset, clinical symptoms, and severity.", "output": {"entities": {"gene": [{"text": "GNPTA", "start": 49, "end": 54}], "disease": [{"text": "ML III", "start": 94, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTA", "start": 49, "end": 54}, "tail": {"text": "ML III", "start": 94, "end": 100}}]}}, "schema": []}
{"input": "This is the first study to look at the relationship of TF and the metaplasia-adenoma-carcinoma sequence (MACS) of gastric cancer in a European population.", "output": {"entities": {"gene": [{"text": "MACS", "start": 105, "end": 109}], "disease": [{"text": "metaplasia", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.", "output": {"entities": {"gene": [{"text": "apolipoprotein A-I", "start": 133, "end": 151}], "disease": [{"text": "familial hypoalphalipoproteinemia", "start": 32, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "apolipoprotein A-I", "start": 133, "end": 151}, "tail": {"text": "familial hypoalphalipoproteinemia", "start": 32, "end": 65}}]}}, "schema": []}
{"input": "Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na +/K + balance maintained by downregulation of ENaC activity and upregulation of ROMK.", "output": {"entities": {"gene": [{"text": "NCC", "start": 203, "end": 206}], "disease": [{"text": "mild", "start": 107, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "HaCat cells were treated with IL-4 at various concentrations for 24h, and PCR gene array on inflammation/autoimmunity was performed three times for analysis of differential gene expression.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 30, "end": 34}], "disease": [{"text": "inflammation", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Moreover, a NR3C2-NR3C1 interaction (P = 0. 002) was found modulating the severity of crack/cocaine withdrawal symptoms.", "output": {"entities": {"gene": [{"text": "NR3C2", "start": 12, "end": 17}], "disease": [{"text": "withdrawal symptoms", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Taken together, our data showed that deregulation of the Robo3 receptor in synovial fibroblasts in RA correlates with aggressiveness of the fibroblasts.", "output": {"entities": {"gene": [{"text": "Robo3", "start": 70, "end": 75}], "disease": [{"text": "aggressiveness", "start": 131, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.", "output": {"entities": {"gene": [{"text": "FAD", "start": 44, "end": 47}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Alterations in TMEMs expression have been identified in several types of cancer, but the expression and function of TMEM14A in ovarian cancer is still unclear.", "output": {"entities": {"gene": [{"text": "TMEM14A", "start": 116, "end": 123}], "disease": [{"text": "cancer", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether inhibition of TNF-α augments efficacy of the E1A CR2-deleted adenovirus dl922-947 in ovarian cancer.", "output": {"entities": {"gene": [{"text": "CR2", "start": 73, "end": 76}], "disease": [{"text": "adenovirus", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Therefore, chromatin remodeling mechanisms at GABAergic gene promoters, including MLL1-mediated histone methylation, operate throughout an extended period of normal human PFC development and play a role in the neurobiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "MLL1", "start": 82, "end": 86}], "disease": [{"text": "schizophrenia", "start": 226, "end": 239}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLL1", "start": 82, "end": 86}, "tail": {"text": "schizophrenia", "start": 226, "end": 239}}]}}, "schema": []}
{"input": "Five weeks after transfection, the angiographic score and the number of capillary density in rabbits transfected with Optison using ultrasound was significantly increased as compared with HGF plasmid alone (P < 0. 01), accompanied by a significant increase in blood flow and blood pressure ratio (P < 0. 01).", "output": {"entities": {"gene": [{"text": "HGF", "start": 188, "end": 191}], "disease": [{"text": "blood pressure", "start": 275, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Our results failed to demonstrate that the studied PLA2 polymorphisms were associated with an increased risk for BPAD in our sample.", "output": {"entities": {"gene": [{"text": "PLA2", "start": 51, "end": 55}], "disease": [{"text": "BPAD", "start": 113, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLA2", "start": 51, "end": 55}, "tail": {"text": "BPAD", "start": 113, "end": 117}}]}}, "schema": []}
{"input": "Taken together, our results implicate the tumor suppressor HIC1 in the transcriptional regulation of the chemokine receptor CXCR7, a key player in the promotion of tumorigenesis in a wide variety of cell types.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 59, "end": 63}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "A \" probably sporadic \" class (age > or = 54 years and epidermal growth factor receptor (EGFR) negative; 68% of cases) with a 0% chance of BRCA1-related breast cancer containing 79% of the sporadic cases was yielded by using a decision tree with age, Ki67 and EGFR.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 89, "end": 93}], "disease": [{"text": "sporadic", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Bezafibrate therapy significantly increased HDL cholesterol levels, reduced triglyceride and insulin resistance levels, and reduced production capacity of TNF-alpha and IL-6, as well as levels of C-reactive protein and fibrinogen.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 196, "end": 214}], "disease": [{"text": "insulin resistance", "start": 93, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In the placental hypoxia models, the expression of HIF-1α, NFAT5, and Hsp70 were significantly higher after 3, 6, and 12 h of 1 mM CoCl2 treatment, respectively.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 70, "end": 75}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Our results show that NUCB2 plays an important role in tumorigenesis and progression and is a potential molecular biomarker for the diagnosis and targeted therapy of ccRCC.", "output": {"entities": {"gene": [{"text": "NUCB2", "start": 22, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment with the mTORC1 inhibitor rapamycin not only alleviated pulmonary arterial pressure and pulmonary arteriolar remodeling but also suppressed hypoxia-induced mTORC1 and Notch3 activation.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 22, "end": 28}], "disease": [{"text": "hypoxia", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Our findings did not suggest association of S100B gene polymorphisms in patients with MDD in China.", "output": {"entities": {"gene": [{"text": "S100B", "start": 44, "end": 49}], "disease": [{"text": "MDD", "start": 86, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 44, "end": 49}, "tail": {"text": "MDD", "start": 86, "end": 89}}]}}, "schema": []}
{"input": "Here, we show that wild-type BRCA2, but not a tumor-specific truncated mutant BRCA2, synergizes with the nuclear receptor coactivator p160 GRIP1 to enhance transcriptional activation by androgen receptor (AR).", "output": {"entities": {"gene": [{"text": "GRIP1", "start": 139, "end": 144}], "disease": [{"text": "tumor", "start": 46, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We investigated the relation among the interleukin (IL)-6 (-174) G/C promoter polymorphism, adipose tissue gene expression of IL6, circulating adiponectin, and systemic insulin sensitivity.", "output": {"entities": {"gene": [{"text": "IL6", "start": 126, "end": 129}], "disease": [{"text": "insulin sensitivity", "start": 169, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Total and phosphorylated (i. e., activated) form (p-VEGFR-2) of VEGFR-2 proteins were overexpressed in a series of human colorectal cancer cell lines.", "output": {"entities": {"gene": [{"text": "VEGFR-2", "start": 52, "end": 59}], "disease": [{"text": "colorectal cancer", "start": 121, "end": 138}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "VEGFR-2", "start": 52, "end": 59}, "tail": {"text": "colorectal cancer", "start": 121, "end": 138}}]}}, "schema": []}
{"input": "Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.", "output": {"entities": {"gene": [{"text": "KIF1A gene", "start": 12, "end": 22}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 457, "end": 465}], "disease": [{"text": "sporadic", "start": 591, "end": 599}]}, "relations": {}}, "schema": []}
{"input": "Almost all correlated to the WASP expression level and severity of infections.", "output": {"entities": {"gene": [{"text": "WASP", "start": 29, "end": 33}], "disease": [{"text": "infections", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In 58% of samples, we found deletions in various glucocorticoid signaling pathway-associated genes, but only NR3C1 and ETV6 deletions prevailed in minimal residual disease poor responding and subsequently relapsing cases (p < 0. 05).", "output": {"entities": {"gene": [{"text": "NR3C1", "start": 109, "end": 114}], "disease": [{"text": "minimal residual disease", "start": 147, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In vitro experiments show that exposure to hypoxia or treatment with cobalt (CoCl2) also increased protein expression of CTR1, ATP7A, and LOX in pulmonary arterial smooth muscle cells (PASMC).", "output": {"entities": {"gene": [{"text": "LOX", "start": 138, "end": 141}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of dnaaf3 in zebrafish likewise disrupts dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus and laterality malformations.", "output": {"entities": {"gene": [{"text": "dnaaf3", "start": 13, "end": 19}], "disease": [{"text": "primary ciliary dyskinesia", "start": 101, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dnaaf3", "start": 13, "end": 19}, "tail": {"text": "primary ciliary dyskinesia", "start": 101, "end": 127}}]}}, "schema": []}
{"input": "In addressing the mechanism by which Snail and Slug lead to loss of intercellular adhesion, specific repression of adherens junction components (E-cadherin and betacatenin), tight junction components (Occludin and ZO-1) and desmosomal junction components (Dsg2) were observed.", "output": {"entities": {"gene": [{"text": "Occludin", "start": 201, "end": 209}], "disease": [{"text": "adhesion", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We conclude that FOXP3-mediated suppressor function requires dimerization through the forkhead domain and that mutations in the dimer interface can lead to the systemic autoimmunity observed in IPEX patients.", "output": {"entities": {"gene": [{"text": "FOXP3", "start": 17, "end": 22}], "disease": [{"text": "IPEX", "start": 194, "end": 198}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXP3", "start": 17, "end": 22}, "tail": {"text": "IPEX", "start": 194, "end": 198}}]}}, "schema": []}
{"input": "Another metastatic sample demonstrated the substitution of proline for threonine at codon 278 (CCT to C/ACT) in addition to a non-mutated codon, while only the wild-type p53 sequence was present in the paired primary gastric tumor tissue.", "output": {"entities": {"gene": [{"text": "ACT", "start": 104, "end": 107}], "disease": [{"text": "gastric tumor", "start": 217, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of p53/p16 (INK4a)/RB1 pathways in the tumorigenesis of primary central nervous system lymphomas (PCNSLs), we have analyzed p14 (ARF), p16 (INK4a), RB1, p21 (Waf1), and p27 (Kip1) status in a series of their 18 sporadic cases of diffuse large B-cell lymphoma, using methylation-specific PCR, differential PCR, and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "p53", "start": 25, "end": 28}], "disease": [{"text": "sporadic", "start": 233, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "ACE, FTO, AKR1C2, TIMP4 and MMP2 genes have been implicated in previous studies on weight regulation.", "output": {"entities": {"gene": [{"text": "TIMP4", "start": 18, "end": 23}], "disease": [{"text": "weight", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention.", "output": {"entities": {"gene": [{"text": "OPLAH", "start": 186, "end": 191}], "disease": [{"text": "5-oxoprolinase deficiency", "start": 153, "end": 178}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPLAH", "start": 186, "end": 191}, "tail": {"text": "5-oxoprolinase deficiency", "start": 153, "end": 178}}]}}, "schema": []}
{"input": "Promoter CpG site methylation was observed frequently in both cell lines and tumor tissues including many LOH tumors, suggesting that biallelic inactivation of XAF1 might be common in colorectal cancers.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 160, "end": 164}], "disease": [{"text": "colorectal cancers", "start": 184, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XAF1", "start": 160, "end": 164}, "tail": {"text": "colorectal cancers", "start": 184, "end": 202}}]}}, "schema": []}
{"input": "Sixty minutes after alteplase infusion, she developed orolingual angioedema.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 20, "end": 29}], "disease": [{"text": "angioedema", "start": 65, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alteplase", "start": 20, "end": 29}, "tail": {"text": "angioedema", "start": 65, "end": 75}}]}}, "schema": []}
{"input": "While Aurora-A (Aur A) provokes, BRCA2 restrains primary tumorigenesis, the roles of Aur A and BRCA2 in cancer metastasis remains unclear.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 33, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the present study was to compare influence of central arginine vasopressin (AVP) and of atrial natriuretic peptide (ANP) on control of arterial blood pressure (MAP) and heart rate (HR) in normotensive (WKY) and spontaneously hypertensive (SHR) rats.", "output": {"entities": {"gene": [{"text": "ANP", "start": 131, "end": 134}], "disease": [{"text": "heart rate", "start": 184, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Acute ethanol exposure decreased amygdaloid HDAC activity and HDAC2 protein levels, increased global and gene (Bdnf and Arc)-specific histone acetylation, and attenuated anxiety-like behaviors in P rats but had no effects in NP rats.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 44, "end": 48}], "disease": [{"text": "anxiety", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "In men with CBAVD who are CFTR-negative, ADGRG2 testing could allow for appropriate genetic counseling with regard to the X-linked transmission of the molecular defect.", "output": {"entities": {"gene": [{"text": "ADGRG2", "start": 41, "end": 47}], "disease": [{"text": "CBAVD", "start": 12, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADGRG2", "start": 41, "end": 47}, "tail": {"text": "CBAVD", "start": 12, "end": 17}}]}}, "schema": []}
{"input": "The hyperemia evoked by intraplantar calcitonin gene related peptide (0. 038-3. 8 ng) was not altered by IL-1 beta (50 pg).", "output": {"entities": {"gene": [{"text": "IL-1 beta", "start": 105, "end": 114}], "disease": [{"text": "hyperemia", "start": 4, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1 beta", "start": 105, "end": 114}, "tail": {"text": "hyperemia", "start": 4, "end": 13}}]}}, "schema": []}
{"input": "Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 13, "end": 17}], "disease": [{"text": "campomelic dysplasia", "start": 128, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 13, "end": 17}, "tail": {"text": "campomelic dysplasia", "start": 128, "end": 148}}]}}, "schema": []}
{"input": "To investigate the mechanisms by which mutations might cause glomerular protein leak, we analysed NPHS1/NPHS2 genotype/phenotype relationships in 41 non-Finnish CNF patients, four patients with congenital (onset 0 to 3 months) focal segmental glomerulosclerosis and five patients with possible SRN1 (onset 6 months to 2 years).", "output": {"entities": {"gene": [{"text": "NPHS1", "start": 98, "end": 103}], "disease": [{"text": "SRN1", "start": 294, "end": 298}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHS1", "start": 98, "end": 103}, "tail": {"text": "SRN1", "start": 294, "end": 298}}]}}, "schema": []}
{"input": "The GPR40 mRNA level in the pancreas correlated with the insulinogenic index, which reflects beta cell function (r = 0. 82, p = 0. 044), but not with glucose levels during the OGTT, the insulin area under the OGTT curve or the index for the homeostasis model assessment of insulin resistance (HOMA-IR).", "output": {"entities": {"gene": [{"text": "GPR40", "start": 4, "end": 9}], "disease": [{"text": "insulin resistance", "start": 273, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Studies on primary rodent Sertoli cells and germ cells, as well as testes from CFTR knockout mice or a cryptorchidism model, yield findings indicating the involvement of CFTR in spermatogensis through the HCO (3) (-)/sAC/cAMP/CREB (CREM) pathway and the NF-κB/COX-2/PGE (2) pathway.", "output": {"entities": {"gene": [{"text": "CREM", "start": 232, "end": 236}], "disease": [{"text": "cryptorchidism", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that the IGF2 ApaI single nucleotide polymorphism (SNP) associates with weight and body mass index in middle-aged Caucasian males but that there is no such association with the INS-23/HphI site that marks INS 5' variable number of tandem repeats (VNTR) class I vs class III VNTR alleles.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 34, "end": 38}], "disease": [{"text": "body mass index", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We aimed to study an interleukin-6 (IL-6) gene polymorphism in relation to insulin sensitivity (IL-6 is the main cytokine involved in an acute-phase response).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 36, "end": 40}], "disease": [{"text": "insulin sensitivity", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Further quantitative real-time RT-PCR analysis revealed similar expression of sulfotransferases SULT1A2, 1A3, and 1E1 in the paired control and tumor tissues.", "output": {"entities": {"gene": [{"text": "SULT1A2", "start": 96, "end": 103}], "disease": [{"text": "tumor", "start": 144, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "However, the number of proliferating cells in the media and neointima of the ligated PAPP-A Tg artery was reduced by 90% on day 5 postsurgery compared with WT.", "output": {"entities": {"gene": [{"text": "PAPP-A", "start": 85, "end": 91}], "disease": [{"text": "neointima", "start": 60, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that AM966 is a potent, selective, orally bioavailable LPA (1) receptor antagonist that may be beneficial in treating lung injury and fibrosis, as well as other diseases that are characterized by pathological inflammation, oedema and fibrosis.", "output": {"entities": {"gene": [{"text": "LPA", "start": 82, "end": 85}], "disease": [{"text": "fibrosis", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 42, "end": 50}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In view of the appearance of mild withdrawal signs during this method of treatment, the observed increases in ACTH and cortisol levels probably reflect the inability of AES to suppress withdrawal symptoms induced by naloxone completely.", "output": {"entities": {"gene": [{"text": "AES", "start": 169, "end": 172}], "disease": [{"text": "mild", "start": 29, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Resistance to fungal infections is attributed to engagement of host pattern-recognition receptors, notably the β-glucan receptor Dectin-1 and the integrin Mac-1, which induce phagocytosis and antifungal immunity.", "output": {"entities": {"gene": [{"text": "Mac-1", "start": 155, "end": 160}], "disease": [{"text": "fungal infections", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Adiponectin is an adipocyte-derived protein that acts to reduce insulin resistance in the liver and muscle and also inhibits atherosclerosis.", "output": {"entities": {"gene": [{"text": "Adiponectin", "start": 0, "end": 11}], "disease": [{"text": "insulin resistance", "start": 64, "end": 82}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Adiponectin", "start": 0, "end": 11}, "tail": {"text": "insulin resistance", "start": 64, "end": 82}}]}}, "schema": []}
{"input": "At enrollment, blood for host IL-8 genotype, serum for CD anti-toxin A antibody, and stool for IL-8 by enzyme-linked immunosorbent assay were obtained in CDAD patients and in CD-toxin-negative asymptomatic controls.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 30, "end": 34}], "disease": [{"text": "asymptomatic", "start": 193, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.", "output": {"entities": {"gene": [{"text": "NPHS2", "start": 27, "end": 32}], "disease": [{"text": "idiopathic nephrotic syndrome", "start": 61, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHS2", "start": 27, "end": 32}, "tail": {"text": "idiopathic nephrotic syndrome", "start": 61, "end": 90}}]}}, "schema": []}
{"input": "A mouse model of the human 5q-syndrome has been generated by large-scale deletion of the Cd74-Nid67 interval (containing Rps14) and the crossing of these' 5q-mice' with p53-deficient mice ameliorated the erythroid progenitor defect.", "output": {"entities": {"gene": [{"text": "Rps14", "start": 121, "end": 126}], "disease": [{"text": "5q-syndrome", "start": 27, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rps14", "start": 121, "end": 126}, "tail": {"text": "5q-syndrome", "start": 27, "end": 38}}]}}, "schema": []}
{"input": "Here, we investigated the association of CYP1A1 Ile462Val, CYP1B1 Leu432Val, GSTP1 Ile105Val, MPO G-463A polymorphisms and lung cancer risk in never-smoking Korean women.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 59, "end": 65}], "disease": [{"text": "smoking", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the TTR gene are also common, one of which causes familial amyloid polyneuropathy (FAP), with peripheral polyneuropathy and frequently, cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "TTR gene", "start": 17, "end": 25}], "disease": [{"text": "cardiac hypertrophy", "start": 149, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Among children with FLG mutations, for each ln unit increase in the house dust peanut protein level, there was a more than 6-fold increased odds of peanut SPT sensitization, CRD sensitization, or both in children at ages 8 years, 11 years, or both and a greater than 3-fold increased odds of peanut allergy compared with odds seen in children with wild-type FLG.", "output": {"entities": {"gene": [{"text": "FLG", "start": 20, "end": 23}], "disease": [{"text": "peanut allergy", "start": 292, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "This delay is preceded by a reduced inflammation and a polarization of inflammatory cytokines from a Th1-and Th17-dominated profile to a Th2-dominated profile.", "output": {"entities": {"gene": [{"text": "Th1", "start": 101, "end": 104}], "disease": [{"text": "inflammation", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "To test this hypothesis we examined the association of the C-45T promoter polymorphism in the Sp1 binding region of the CCK gene with smoking and BMI in two independent groups of subjects.", "output": {"entities": {"gene": [{"text": "CCK gene", "start": 120, "end": 128}], "disease": [{"text": "smoking", "start": 134, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Finally, the MC4R variants T11A, F51L, T112M, and M200V identified from patients with binge eating disorder displayed normal function with regards to the parameters measured in our study.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 13, "end": 17}], "disease": [{"text": "binge eating disorder", "start": 86, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "A double-controlled recombinant adenovirus (AdCN103) was constructed by deletion of 24 bp in CR2 region of E1A and replacement of E1A promoter with the modified hTERT promoter.", "output": {"entities": {"gene": [{"text": "CR2", "start": 93, "end": 96}], "disease": [{"text": "adenovirus", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The p53 tumor suppressor gene seems to have a similar role in the tumorigenesis of most familial and sporadic gliomas.", "output": {"entities": {"gene": [{"text": "p53 tumor suppressor gene", "start": 4, "end": 29}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that somatic BRCA2 mutations, like somatic mutations in the BRCA1 gene, are very rare in primary breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 34, "end": 39}], "disease": [{"text": "breast cancers", "start": 118, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 34, "end": 39}, "tail": {"text": "breast cancers", "start": 118, "end": 132}}]}}, "schema": []}
{"input": "Colony-stimulating factor 1 (CSF1) is essential for osteoclastogenesis that mediates osteolysis in metastatic tumors.", "output": {"entities": {"gene": [{"text": "CSF1", "start": 29, "end": 33}], "disease": [{"text": "osteolysis", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 8, "end": 13}], "disease": [{"text": "congenital insensitivity to pain with anhidrosis", "start": 39, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTRK1", "start": 8, "end": 13}, "tail": {"text": "congenital insensitivity to pain with anhidrosis", "start": 39, "end": 87}}]}}, "schema": []}
{"input": "Expression of Brachyury gene is a significant prognostic factor for primary lung carcinoma.", "output": {"entities": {"gene": [{"text": "Brachyury gene", "start": 14, "end": 28}], "disease": [{"text": "lung carcinoma", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Novel SPG20 mutation in an extended family with Troyer syndrome.", "output": {"entities": {"gene": [{"text": "SPG20", "start": 6, "end": 11}], "disease": [{"text": "Troyer syndrome", "start": 48, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG20", "start": 6, "end": 11}, "tail": {"text": "Troyer syndrome", "start": 48, "end": 63}}]}}, "schema": []}
{"input": "TMA oxidation is catalyzed by flavin-containing mono-oxygenase (FMO; refs 7, 8), and tissue localization and functional studies have established FMO3 as the form most likely to be defective in fish-odour syndrome.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 145, "end": 149}], "disease": [{"text": "mono", "start": 48, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We recently showed that Cx32 containing the CMTX-associated mutation, Ser-85-Cys (S85C), forms functional cell-cell channels in paired Xenopus oocytes.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 24, "end": 28}], "disease": [{"text": "CMTX", "start": 44, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cx32", "start": 24, "end": 28}, "tail": {"text": "CMTX", "start": 44, "end": 48}}]}}, "schema": []}
{"input": "The purpose of the present study was to investigate the effects of ischaemia and subsequent reperfusion on rat brain and to investigate the effects of two free radical scavengers, CAPE and alpha-tocopherol, on this in vivo model of cerebral injury.", "output": {"entities": {"gene": [{"text": "CAPE", "start": 180, "end": 184}], "disease": [{"text": "ischaemia", "start": 67, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence.", "output": {"entities": {"gene": [{"text": "HDAC4", "start": 64, "end": 69}], "disease": [{"text": "brachydactyly type E", "start": 79, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC4", "start": 64, "end": 69}, "tail": {"text": "brachydactyly type E", "start": 79, "end": 99}}]}}, "schema": []}
{"input": "The hemochromatosis gene affects the age of onset of sporadic Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "hemochromatosis gene", "start": 4, "end": 24}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "To analyze nm23-H1 protein immunohistologically in squamous cell carcinoma of the vulva.", "output": {"entities": {"gene": [{"text": "nm23-H1", "start": 11, "end": 18}], "disease": [{"text": "squamous cell carcinoma of the vulva", "start": 51, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We reported a second case of t (10; 12)-positive myelodysplastic syndrome in whom fluorescent in situ hybridization confirmed the non-random translocation but molecular biology analyses revealed a ETV6/GOT1 chimera varying from the first case described.", "output": {"entities": {"gene": [{"text": "GOT1", "start": 202, "end": 206}], "disease": [{"text": "myelodysplastic syndrome", "start": 49, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Folate receptor-beta expression as a diagnostic target in human & rodent nonalcoholic steatohepatitis.", "output": {"entities": {"gene": [{"text": "Folate receptor-beta", "start": 0, "end": 20}], "disease": [{"text": "nonalcoholic steatohepatitis", "start": 73, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Folate receptor-beta", "start": 0, "end": 20}, "tail": {"text": "nonalcoholic steatohepatitis", "start": 73, "end": 101}}]}}, "schema": []}
{"input": "Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "FUS", "start": 6, "end": 9}], "disease": [{"text": "juvenile amyotrophic lateral sclerosis", "start": 37, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FUS", "start": 6, "end": 9}, "tail": {"text": "juvenile amyotrophic lateral sclerosis", "start": 37, "end": 75}}]}}, "schema": []}
{"input": "Long-term event-free survival (EFS) has been excellent in first remission (CR1) cytogenetically favorable groups, particularly with post-transplant treatment for acute promyelocytic leukemia (APL) patients with all-trans retinoic acid (ATRA; EFS 88%).", "output": {"entities": {"gene": [{"text": "CR1", "start": 75, "end": 78}], "disease": [{"text": "acute promyelocytic leukemia", "start": 162, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Pick' s disease associated with the novel Tau gene mutation K369I.", "output": {"entities": {"gene": [{"text": "Tau", "start": 42, "end": 45}], "disease": [{"text": "Pick' s disease", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Tau", "start": 42, "end": 45}, "tail": {"text": "Pick' s disease", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "Results to date demonstrate: (1) the major histocompatibility complex (MHC: H-2 in mouse, HLA in humans: mouse chromosome 17/human 6p; candidates class II and class III including tumour necrosis factor alpha/beta genes) shows both linkage to, and allelic association with, leprosy per se, but is only weakly associated with visceral leishmaniasis and shows neither linkage to, nor allelic association with, tuberculosis; (2) no evidence for linkage between NRAMP1, the positionally cloned candidate for the murine macrophage resistance gene Ity/Lsh/Bcg (mouse chromosome 1/human 2q35), and susceptibility to tuberculosis or visceral leishmaniasis; (3) the region of human chromosome 17q (candidates NOS2A, SCYA2-5) homologous with distal mouse chromosome 11 is linked to tuberculosis susceptibility; and (4) the \" T helper 2 \" cytokine gene cluster (proximal murine chromosome 11/human 5p; candidates IL4, IL5, IL9, IRF1, CD14) is not linked to human disease susceptibility for any of the three infections, but shows linkage to and highly significant allelic association with ability to mount an immune response to mycobacterial antigens.", "output": {"entities": {"gene": [{"text": "SCYA2", "start": 706, "end": 711}], "disease": [{"text": "leprosy", "start": 273, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation.", "output": {"entities": {"gene": [{"text": "MIM", "start": 34, "end": 37}], "disease": [{"text": "exocrine pancreatic insufficiency", "start": 111, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that in the most highly invasive subtype of pancreatic cancer cells (QM-PDA) the selective AhR modulators omeprazole and tranilast inhibit invasion through a nongenomic AhR pathway.", "output": {"entities": {"gene": [{"text": "AhR", "start": 117, "end": 120}], "disease": [{"text": "pancreatic cancer", "start": 70, "end": 87}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AhR", "start": 117, "end": 120}, "tail": {"text": "pancreatic cancer", "start": 70, "end": 87}}]}}, "schema": []}
{"input": "Other proteins known to be associated with familial thrombotic disease, including antithrombin III, plasminogen, fibrinogen, and protein C, were normal.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 82, "end": 98}], "disease": [{"text": "fibrinogen", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Our results are consistent with the tumor target specificity of PhIP and MeIQx and with increased susceptibility to MeIQx-induced liver tumors in rapid NAT2 acetylators.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 152, "end": 156}], "disease": [{"text": "liver tumors", "start": 130, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NAT2", "start": 152, "end": 156}, "tail": {"text": "liver tumors", "start": 130, "end": 142}}]}}, "schema": []}
{"input": "Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).", "output": {"entities": {"gene": [{"text": "DDX53", "start": 267, "end": 272}], "disease": [{"text": "leiomyoma", "start": 46, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "It is the most 5' breakpoint reported in a translocation involving the NUP98 gene.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 71, "end": 81}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Activation of the transcription factor NF-kappaB is necessary for full expression of tumor necrosis factor alpha (TNF-alpha)-inducible endothelial chemokines and adhesion molecules.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 39, "end": 48}], "disease": [{"text": "adhesion", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "28 different point mutations in the human thyroid hormone receptor beta (TR beta) gene have been associated with GRTH.", "output": {"entities": {"gene": [{"text": "thyroid hormone receptor beta", "start": 42, "end": 71}], "disease": [{"text": "GRTH", "start": 113, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "thyroid hormone receptor beta", "start": 42, "end": 71}, "tail": {"text": "GRTH", "start": 113, "end": 117}}]}}, "schema": []}
{"input": "The Chitinase 3-like 1 (CHI3L1)-131C > G genotype (rs4950928) is associated with increased asthma susceptibility and severity in adults.", "output": {"entities": {"gene": [{"text": "CHI3L1", "start": 24, "end": 30}], "disease": [{"text": "asthma susceptibility", "start": 91, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Since the role of Akt and inhibitors of apoptosis proteins (IAPs) in chemoresistance of advanced prostate cancers has been established, we tested the effect of CT on phospho-Akt and survivin levels in PC-3M cells.", "output": {"entities": {"gene": [{"text": "CT", "start": 160, "end": 162}], "disease": [{"text": "prostate cancers", "start": 97, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CT", "start": 160, "end": 162}, "tail": {"text": "prostate cancers", "start": 97, "end": 113}}]}}, "schema": []}
{"input": "No differences in P300 amplitude were found between alcoholics and controls unless comorbid depression was present.", "output": {"entities": {"gene": [{"text": "P300", "start": 18, "end": 22}], "disease": [{"text": "depression", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the disruption of the genomic architecture of cis regulatory elements downstream the TRPS1 5' region, combined with the translocation of a novel enhancer element nearby TRPS1, might be the pathogenetic mechanism underpinning the proband' s phenotype.", "output": {"entities": {"gene": [{"text": "TRPS1", "start": 101, "end": 106}], "disease": [{"text": "translocation", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Only 1 of the tested SNP (NOS3 rs3918166) was associated with both migraine and stroke.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 26, "end": 30}], "disease": [{"text": "stroke", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.", "output": {"entities": {"gene": [{"text": "DYNC2H1", "start": 0, "end": 7}], "disease": [{"text": "short rib-polydactyly syndrome, type III", "start": 60, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DYNC2H1", "start": 0, "end": 7}, "tail": {"text": "short rib-polydactyly syndrome, type III", "start": 60, "end": 100}}]}}, "schema": []}
{"input": "Obese adult carriers of functionally relevant MC4R mutations do not specifically present with binge-eating disorder or a history of early-onset obesity.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 46, "end": 50}], "disease": [{"text": "binge-eating disorder", "start": 94, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In lysosomes, cathepsin A forms a high-molecular-weight complex with beta-galactosidase and neuraminidase that protects these enzymes against intralysosomal proteolysis.", "output": {"entities": {"gene": [{"text": "cathepsin A", "start": 14, "end": 25}], "disease": [{"text": "weight", "start": 49, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "To highlight areas for investigation in RASopathies and sporadic tumours with NF1 mutations, we summarize current knowledge of NF1 disease, the NF1 gene and neurofibromin, neurofibromin signalling pathways and recent developments in NF1 therapeutics.", "output": {"entities": {"gene": [{"text": "neurofibromin", "start": 157, "end": 170}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression analysis was used to estimate breast cancer risk associated with the SULT1A1 Arg213His polymorphism alone and in combination with NAT2 genotype in relation to smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 163, "end": 167}], "disease": [{"text": "smoking", "start": 192, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "O (6)-Methylguanine-DNA methyltransferase (MGMT) is a suicide enzyme that repairs the pre-mutagenic, pre-carcinogenic and pre-toxic DNA damage O (6)-methylguanine.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 43, "end": 47}], "disease": [{"text": "suicide", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Moreover, Cyr61 was upregulated by epidermal growth factor (EGF) but not by R5020 in the PR-MDA-MB-431 mammary adenocarcinoma cell line, underscoring the necessity of PR.", "output": {"entities": {"gene": [{"text": "EGF", "start": 60, "end": 63}], "disease": [{"text": "mammary adenocarcinoma", "start": 103, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Interferon-beta (IFN-beta) therapy for MS is hypothesized to cause short-term and long-term changes in gene expression that shift the inflammation from Th1 to Th2.", "output": {"entities": {"gene": [{"text": "Th1", "start": 152, "end": 155}], "disease": [{"text": "inflammation", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Expression of VEGF protein was greater at p14, when 30% avascular retina existed in the ROP model, compared with room air, when no avascular retina existed, and at p18, when intravitreous neovascularization existed in the model but not in room air (P <. 001 for both).", "output": {"entities": {"gene": [{"text": "p18", "start": 164, "end": 167}], "disease": [{"text": "neovascularization", "start": 188, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Another report revealed a strong association between SAA1-13T/C and secondary amyloidosis in the rheumatoid arthritis patient group.", "output": {"entities": {"gene": [{"text": "SAA1", "start": 53, "end": 57}], "disease": [{"text": "secondary amyloidosis", "start": 68, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAA1", "start": 53, "end": 57}, "tail": {"text": "secondary amyloidosis", "start": 68, "end": 89}}]}}, "schema": []}
{"input": "The heritability of waist circumference (WC), HDL-cholesterol (HDL-C), triglycerides (TGs), fasting blood sugar (FBS), systolic blood pressure (SBP) and diastolic blood pressure (DBP) as continuous traits after adjusting for age and gender were 27, 46, 36, 29, 25, 26 and 15%, respectively, and MSS had a heritability of 15%.", "output": {"entities": {"gene": [{"text": "DBP", "start": 179, "end": 182}], "disease": [{"text": "systolic blood pressure", "start": 119, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Primary mucosal melanoma arising from the eustachian tube with CTLA-4, IL-17A, IL-17C, and IL-17E upregulation.", "output": {"entities": {"gene": [{"text": "IL-17E", "start": 91, "end": 97}], "disease": [{"text": "mucosal melanoma", "start": 8, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c. 419C > G (p. Ser140Cys), and the rare substitution c. 1098C > A (p. Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state.", "output": {"entities": {"gene": [{"text": "OAT", "start": 274, "end": 277}], "disease": [{"text": "infertile", "start": 62, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In multiple linear regression, significant determinants of greater CDR were increasing age, male sex, higher intraocular pressure (IOP), lower diastolic blood pressure, lower body mass index, and previous cataract surgery.", "output": {"entities": {"gene": [{"text": "CDR", "start": 67, "end": 70}], "disease": [{"text": "diastolic blood pressure", "start": 143, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "These results show that ATF7 interacts with TAF12 and contributes to the hypersensitivity of OCL precursors to 1, 25-(OH) ₂D₃ in PD.", "output": {"entities": {"gene": [{"text": "TAF12", "start": 44, "end": 49}], "disease": [{"text": "hypersensitivity", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In serous ovarian cancer, we make the novel observation that inactivation of BRCA1 and BRCA2 is mutually exclusive of amplification of CCNE1 and inactivation of RB1, suggesting distinct alternative causes of genomic instability in this cancer type; and, we identify RBBP8 as a candidate oncogene involved in Rb-mediated cell cycle control.", "output": {"entities": {"gene": [{"text": "CCNE1", "start": 135, "end": 140}], "disease": [{"text": "genomic instability", "start": 208, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that the transcription factor T-bet (T-box expressed in T cells) is increased in T cells from patients with aplastic anemia.", "output": {"entities": {"gene": [{"text": "transcription factor T", "start": 23, "end": 45}], "disease": [{"text": "aplastic anemia", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "With GM-CSF starting on day 1, dose-limiting granulocytopenia occurred during cycle no.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 5, "end": 11}], "disease": [{"text": "granulocytopenia", "start": 45, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GM-CSF", "start": 5, "end": 11}, "tail": {"text": "granulocytopenia", "start": 45, "end": 61}}]}}, "schema": []}
{"input": "Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway.", "output": {"entities": {"gene": [{"text": "MVK", "start": 207, "end": 210}], "disease": [{"text": "PK", "start": 110, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MVK", "start": 207, "end": 210}, "tail": {"text": "PK", "start": 110, "end": 112}}]}}, "schema": []}
{"input": "Previous studies have shown that glioma patients report allergies less frequently than controls, harbor lower atopy-associated IgE levels, and harbor different frequencies of polymorphisms in the IL13 and IL4 pathways than controls.", "output": {"entities": {"gene": [{"text": "IL13", "start": 196, "end": 200}], "disease": [{"text": "atopy", "start": 110, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).", "output": {"entities": {"gene": [{"text": "PDCD6", "start": 167, "end": 172}], "disease": [{"text": "endogenous depression", "start": 33, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDCD6", "start": 167, "end": 172}, "tail": {"text": "endogenous depression", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "We report on a patient with molecularly confirmed NS/LAH exhibiting severe short stature associated with GH insensitivity (GHI), and chronic complex tics, a neurological feature never described before in this syndrome.", "output": {"entities": {"gene": [{"text": "LAH", "start": 53, "end": 56}], "disease": [{"text": "tics", "start": 149, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Oral nucleoside analogue therapies can suppress fibrosis and reduce HCC incidence by successfully reversing phosphorylated Smad3 signalling; even liver disease progressed to cirrhosis in chronic hepatitis B patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 68, "end": 71}], "disease": [{"text": "fibrosis", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "shRNA knockdown of CDCP1 impairs cancer cell migration under hypoxic conditions, whereas overexpression of HIF-2α promotes the growth of tumor xenografts in association with enhanced CDCP1 expression and tyrosine phosphorylation.", "output": {"entities": {"gene": [{"text": "CDCP1", "start": 19, "end": 24}], "disease": [{"text": "hypoxic", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "High abundance of c-Jun is detected in invasive breast cancer cells and aggressive breast tumor malignancies.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 18, "end": 23}], "disease": [{"text": "invasive breast cancer", "start": 39, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that MLH1 hypermethylation is an early event frequently occurring in hyperplasia without atypia, whereas the PTEN mutation occurs later, mostly in atypical hyperplasia, possibly caused by MLH1 hypermethylation.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 29, "end": 33}], "disease": [{"text": "hyperplasia", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Here we report the prenatal diagnosis of leprechaunism in two unrelated families in which affected children were compound heterozygotes with two different deficient IR alleles.", "output": {"entities": {"gene": [{"text": "IR", "start": 165, "end": 167}], "disease": [{"text": "leprechaunism", "start": 41, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IR", "start": 165, "end": 167}, "tail": {"text": "leprechaunism", "start": 41, "end": 54}}]}}, "schema": []}
{"input": "The ischemia-responsive IRE1 protein is thus identified as a key regulator of tumor neovascularization and invasiveness.", "output": {"entities": {"gene": [{"text": "IRE1", "start": 24, "end": 28}], "disease": [{"text": "ischemia", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the insulin receptor gene in four patients with leprechaunism and one with type A insulin resistance.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 16, "end": 32}], "disease": [{"text": "leprechaunism", "start": 60, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 16, "end": 32}, "tail": {"text": "leprechaunism", "start": 60, "end": 73}}]}}, "schema": []}
{"input": "In conclusion, human activated HSCs utilize components of TLR4 signal transduction cascade to stimulate NF-kappaB and JNK and up-regulate chemokines and adhesion molecules.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 104, "end": 113}], "disease": [{"text": "adhesion", "start": 153, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Preliminary analyses have identified 2 proteins with lipoxidative damage, alpha-synuclein and manganese superoxide dismutase (SOD2), in incidentally Lewy body disease cortex.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 126, "end": 130}], "disease": [{"text": "Lewy body disease", "start": 149, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 126, "end": 130}, "tail": {"text": "Lewy body disease", "start": 149, "end": 166}}]}}, "schema": []}
{"input": "[Hypertrophic cardiomyopathy induced by ACTH].", "output": {"entities": {"gene": [{"text": "ACTH", "start": 40, "end": 44}], "disease": [{"text": "Hypertrophic cardiomyopathy", "start": 1, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 40, "end": 44}, "tail": {"text": "Hypertrophic cardiomyopathy", "start": 1, "end": 28}}]}}, "schema": []}
{"input": "Human esophageal squamous cell carcinoma cell line Eca109 and pancreatic carcinoma cell line BxPC3 cells were transfected with siRNAs targeting ID2 and scrambled control siRNA.", "output": {"entities": {"gene": [{"text": "ID2", "start": 144, "end": 147}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 6, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The influence of polymorphic variants in the beta2-adrenergic receptor gene on the cardiovascular response to sympathoexcitation may have important implications in the development of hypertension and heart failure.", "output": {"entities": {"gene": [{"text": "beta2", "start": 45, "end": 50}], "disease": [{"text": "heart failure", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that germline SUFU mutations were responsible for a high proportion of desmoplastic medulloblastoma in children younger than 3 years of age.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 34, "end": 38}], "disease": [{"text": "desmoplastic medulloblastoma", "start": 91, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUFU", "start": 34, "end": 38}, "tail": {"text": "desmoplastic medulloblastoma", "start": 91, "end": 119}}]}}, "schema": []}
{"input": "We genotyped 320 female participants (104 puerperal psychosis probands, 102 bipolar disorder participants and 114 controls) at the serotonin transporter SERT (5-HTT) 5-HTTVNTR and 5-HTTLPR locus; serotonin receptor 2A (5-HT2A)-T102C and His452Tyr loci, the serotonin receptor 2C (5-HT2C)-Cys23Ser locus, and seven unrelated Alu polymorphic markers.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 219, "end": 225}], "disease": [{"text": "puerperal psychosis", "start": 42, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Our findings supported a role of the GSTO1 rs4925 SNP in the risk of sporadic AD in southern Italy, suggesting that this and other variants of the GSTO1 gene could be implicated in AD pathogenesis.", "output": {"entities": {"gene": [{"text": "GSTO1 gene", "start": 147, "end": 157}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Ehd3 was methylated in 63% of AML patients examined.", "output": {"entities": {"gene": [{"text": "Ehd3", "start": 0, "end": 4}], "disease": [{"text": "AML", "start": 30, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ehd3", "start": 0, "end": 4}, "tail": {"text": "AML", "start": 30, "end": 33}}]}}, "schema": []}
{"input": "The results indicated that Arg399Gln polymorphism of XRCC1 gene and Arg415Gln polymorphism of ERCC4 gene may not be associated with smoking-and drinking-related larynx cancer in Polish population.", "output": {"entities": {"gene": [{"text": "XRCC1 gene", "start": 53, "end": 63}], "disease": [{"text": "smoking", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Expression of TGIF is increased in leiomyoma compared with myometrium.", "output": {"entities": {"gene": [{"text": "TGIF", "start": 14, "end": 18}], "disease": [{"text": "leiomyoma", "start": 35, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Immunoreactive SnoN was detectable in 31 of 59 (52. 5%) esophageal squamous cell carcinoma specimens.", "output": {"entities": {"gene": [{"text": "SnoN", "start": 15, "end": 19}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 56, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The PRRT2 gene was sequenced in 58 family probands/sporadic individuals with PKD/IC, 182 with EA, 128 with HM, and 475 UK and 96 Asian controls.", "output": {"entities": {"gene": [{"text": "PRRT2 gene", "start": 4, "end": 14}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the polyclonal antibody specific to Nectin-2 suppressed the in vitro proliferation of OV-90 ovarian cancer cells, which express endogenous Nectin-2 on the cell surface.", "output": {"entities": {"gene": [{"text": "Nectin-2", "start": 49, "end": 57}], "disease": [{"text": "ovarian cancer", "start": 105, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nectin-2", "start": 49, "end": 57}, "tail": {"text": "ovarian cancer", "start": 105, "end": 119}}]}}, "schema": []}
{"input": "aPC-SR was inversely correlated (p < 0. 01) with factor VIII and fibrinogen in patients and with prothrombin activation fragment 1. 2 (F1. 2) in controls.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 49, "end": 60}], "disease": [{"text": "fibrinogen", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Tissues from colon adenocarcinoma, adjacent normal and inflammatory tissue and lymph node with metastasis were evaluated for iNOS, MMP-2/9 and Fra-1/Fra-2.", "output": {"entities": {"gene": [{"text": "Fra-1", "start": 143, "end": 148}], "disease": [{"text": "colon adenocarcinoma", "start": 13, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Since FAD presents with the same neuropathological features as sporadic AD, i. e., cognitive impairments and the amyloid plaques and tangles in the brain, our working hypothesis is that similar molecular pathogenic mechanisms underly both sporadic and familial AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 6, "end": 9}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "HGFA expression was detected not only in the liver tissues of chronic hepatitis and cirrhosis and in the nontumorous liver tissues surrounding HCC, but also in HCC tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 143, "end": 146}], "disease": [{"text": "chronic hepatitis", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We therefore hypothesized that overexpression of Cu/Zn-superoxide dismutase (h-SOD1) should protect transgenic mice from ototoxicity.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 79, "end": 83}], "disease": [{"text": "ototoxicity", "start": 121, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Similarly, of these peptides only TRH and MK-771 induced a tremor of the forepaws in pentobarbital-anesthetized mice.", "output": {"entities": {"gene": [{"text": "TRH", "start": 34, "end": 37}], "disease": [{"text": "tremor", "start": 59, "end": 65}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 34, "end": 37}, "tail": {"text": "tremor", "start": 59, "end": 65}}]}}, "schema": []}
{"input": "We identified a novel hypoPP2 mutation that neutralizes an arginine residue in DIII-S4 (R1132Q), and studied its functional consequences in HEK cells transfected with the human SCN4A cDNA.", "output": {"entities": {"gene": [{"text": "SCN4A", "start": 177, "end": 182}], "disease": [{"text": "hypoPP2", "start": 22, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN4A", "start": 177, "end": 182}, "tail": {"text": "hypoPP2", "start": 22, "end": 29}}]}}, "schema": []}
{"input": "The results indicate that COMP is the disease susceptibility gene and the c. 2152C > T mutation in exon 18 could cause early-onset OA phenotypes in this kindred, which is compatible with a previous report that this mutation also causes a mild form of multiple epiphyseal dysplasia (MED).", "output": {"entities": {"gene": [{"text": "MED", "start": 282, "end": 285}], "disease": [{"text": "mild", "start": 238, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Yeast two-hybrid analysis of binary interactions between FAM161A and an array of ciliary and ciliopathy-associated proteins reveals direct interaction with lebercilin, CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration.", "output": {"entities": {"gene": [{"text": "FAM161A", "start": 57, "end": 64}], "disease": [{"text": "retinal degeneration", "start": 221, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "CD4 + lymphocyte depletion was induced within 1 week of the SHIV-C2/1 infection in peripheral blood as well as in various lymphoid organs in all the animals tested, with symptoms of diarrhoea and no increase in body weight, followed by intense viraemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "viraemia", "start": 244, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Cardiac-specific gene expression of Nppa (atrial natriuretic factor) and Tbx5 marked the proper morphological locations in the heart regardless of looping abnormalities.", "output": {"entities": {"gene": [{"text": "atrial natriuretic factor", "start": 42, "end": 67}], "disease": [{"text": "abnormalities", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "H. pylori infection increases the risks of MIF polymorphisms for susceptibility with gastric cancer.", "output": {"entities": {"gene": [{"text": "MIF", "start": 43, "end": 46}], "disease": [{"text": "gastric cancer", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Mutations in genes related to malignancy not previously associated with thyroid tumorigenesis were observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2A; some of which were recurrent and were investigated in 24 additional ATC cases and 8 ATC cell lines.", "output": {"entities": {"gene": [{"text": "EIF1AX", "start": 166, "end": 172}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Here we show that CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation t (4; 19) (q35; q13).", "output": {"entities": {"gene": [{"text": "DUX4", "start": 161, "end": 165}], "disease": [{"text": "chromosomal translocation", "start": 193, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "We now report a missense mutation in the intracellular tyrosine kinase domain of RET in the germline of a family with FMTC that does not have a cysteine codon mutation.", "output": {"entities": {"gene": [{"text": "RET", "start": 81, "end": 84}], "disease": [{"text": "FMTC", "start": 118, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 81, "end": 84}, "tail": {"text": "FMTC", "start": 118, "end": 122}}]}}, "schema": []}
{"input": "Poly (ADP-ribose) polymerase activity appears to be an inherited trait and abnormalities in it may be one of the susceptibility factors for SLE.", "output": {"entities": {"gene": [{"text": "Poly (ADP-ribose) polymerase", "start": 0, "end": 28}], "disease": [{"text": "abnormalities", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Our genetic and functional analyses indicate that germline mutations in SUFU also predispose to meningiomas, particularly to multiple meningiomas.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 72, "end": 76}], "disease": [{"text": "meningiomas", "start": 96, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUFU", "start": 72, "end": 76}, "tail": {"text": "meningiomas", "start": 96, "end": 107}}]}}, "schema": []}
{"input": "The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease.", "output": {"entities": {"gene": [{"text": "EPM2B", "start": 35, "end": 40}], "disease": [{"text": "Lafora disease", "start": 190, "end": 204}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPM2B", "start": 35, "end": 40}, "tail": {"text": "Lafora disease", "start": 190, "end": 204}}]}}, "schema": []}
{"input": "Previously, we established a survivin promoter-regulated oncolytic adenovirus that has inhibitory effect on HCC growth.", "output": {"entities": {"gene": [{"text": "HCC", "start": 108, "end": 111}], "disease": [{"text": "adenovirus", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "To assess the relationship between IL-6 and PAI-1 polymorphisms and coronary artery disease (CAD) and to observe the interactions between these polymorphic variants and smoking in the CAD risk.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 35, "end": 39}], "disease": [{"text": "smoking", "start": 169, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The ACT-TT genotype was more prevalent in patients than in asymptomatic or symptomatic control subjects: 26%, 15%, and 16%, respectively.", "output": {"entities": {"gene": [{"text": "ACT", "start": 4, "end": 7}], "disease": [{"text": "asymptomatic", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate CHRNA3 (rs8040868) and PHACTR2 (rs9390123) single-nucleotide polymorphisms (SNPs) for association with non-small-cell lung cancer (NSCLC) risk in a Chinese population, and whether the environment affects the genetic polymorphisms.", "output": {"entities": {"gene": [{"text": "PHACTR2", "start": 55, "end": 62}], "disease": [{"text": "lung cancer", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We show that genes known to be involved in anti-inflammatory and protective mechanisms such as STAT6, JAK1, IL-4R, IL-10, Chromogranin C and Hif-1alpha are consistently upregulated in the multiple sclerosis NAWM.", "output": {"entities": {"gene": [{"text": "Chromogranin C", "start": 122, "end": 136}], "disease": [{"text": "multiple sclerosis", "start": 188, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Non-diabetic women with the polycystic ovary syndrome (PCOS), a common endocrine disorder that is associated with insulin resistance, similarly demonstrate lower levels of SHBG.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 172, "end": 176}], "disease": [{"text": "insulin resistance", "start": 114, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In atopic patients, the levels of both IL-8 and MIP-1 alpha mRNAs but not of RANTES mRNA decreased with improvements in symptom scores after therapy.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 77, "end": 83}], "disease": [{"text": "atopic", "start": 3, "end": 9}]}, "relations": {}}, "schema": []}
{"input": "Concentration of cirDNA and methylation of RARbeta2, RASSF1A and HIC-1 gene promoters were investigated in cell-free and cell-surface-bound fractions from healthy donors, patients with breast cancer, and patients with breast fibroadenoma.", "output": {"entities": {"gene": [{"text": "HIC", "start": 65, "end": 68}], "disease": [{"text": "breast fibroadenoma", "start": 218, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "With placebo treatment, 90 min of partial hepatic ischemia followed by 24 hr of reperfusion resulted in increased levels of serum OCT (760 +/-521 IU/liter) and ALT (4327 +/-1982 IU/liter), while extensive hepatic necrosis was evident by TNBT and H & E staining.", "output": {"entities": {"gene": [{"text": "OCT", "start": 130, "end": 133}], "disease": [{"text": "hepatic necrosis", "start": 205, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "PPAR-gamma, by increasing superoxide dismutase/catalase and decreasing nicotinamide adenine dinucleotide phosphate oxidase levels, attenuated ischemia-induced reactive oxygen species and subsequently alleviated the postischemic degradation of Bcl-2, Bcl-xl, and Akt.", "output": {"entities": {"gene": [{"text": "nicotinamide adenine dinucleotide phosphate oxidase", "start": 71, "end": 122}], "disease": [{"text": "ischemia", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.", "output": {"entities": {"gene": [{"text": "ASA", "start": 126, "end": 129}], "disease": [{"text": "MLD", "start": 198, "end": 201}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASA", "start": 126, "end": 129}, "tail": {"text": "MLD", "start": 198, "end": 201}}]}}, "schema": []}
{"input": "p53 expression was detected in 20/26 (77%) BRCA1-, 10/22 (45%) BRCA2-associated and 25/72 (35%) grade-matched sporadic tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 63, "end": 68}], "disease": [{"text": "sporadic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.", "output": {"entities": {"gene": [{"text": "TNFSF4", "start": 12, "end": 18}], "disease": [{"text": "systemic lupus erythematosus", "start": 87, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFSF4", "start": 12, "end": 18}, "tail": {"text": "systemic lupus erythematosus", "start": 87, "end": 115}}]}}, "schema": []}
{"input": "Recent studies have highlighted the importance of CTIP2 in several other pathologies, such as cardiac hypertrophy and various types of human malignancies.", "output": {"entities": {"gene": [{"text": "CTIP2", "start": 50, "end": 55}], "disease": [{"text": "cardiac hypertrophy", "start": 94, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have shown that an antiinflammatory cytokine, interleukin-4 (IL-4), is expressed and exerts various modulatory effects in CNS inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 76, "end": 80}], "disease": [{"text": "inflammation", "start": 141, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In a French family, we have identified a splicing mutation in the SCN5A gene leading to hereditary progressive cardiac conduction defect.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 66, "end": 71}], "disease": [{"text": "progressive cardiac conduction defect", "start": 99, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 66, "end": 71}, "tail": {"text": "progressive cardiac conduction defect", "start": 99, "end": 136}}]}}, "schema": []}
{"input": "Association of DAO and G72 (DAOA)/G30 genes with bipolar affective disorder.", "output": {"entities": {"gene": [{"text": "DAO", "start": 15, "end": 18}], "disease": [{"text": "bipolar affective disorder", "start": 49, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DAO", "start": 15, "end": 18}, "tail": {"text": "bipolar affective disorder", "start": 49, "end": 75}}]}}, "schema": []}
{"input": "Similar to the molecular pathology of SDS, mutant EFL1 proteins do not promote the release of cytoplasmic Tif6 from the 60S subunit, likely preventing the formation of mature ribosomes.", "output": {"entities": {"gene": [{"text": "EFL1", "start": 50, "end": 54}], "disease": [{"text": "SDS", "start": 38, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFL1", "start": 50, "end": 54}, "tail": {"text": "SDS", "start": 38, "end": 41}}]}}, "schema": []}
{"input": "In vitro, HGF abrogated monocyte adhesion to TNF-alpha-activated endothelial monolayers and suppressed endothelial expression of E-selectin, which depended on NF-kappaB signaling.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 159, "end": 168}], "disease": [{"text": "adhesion", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "In Ewing' s sarcoma and related peripheral primitive neuroectodermal tumors, a (11; 22) (q24; q12) translocation is associated with hybrid transcripts of the EWS gene with the FLIl gene.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 158, "end": 166}], "disease": [{"text": "translocation", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Nine of 12 patients with HCC with aberrant Pi type had cirrhosis; 5 of the 9 had cirrhosis due to hepatitis B virus; 2 of the 9 had alcoholic liver disease with cirrhosis, and 2 had cryptogenic cirrhosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 25, "end": 28}], "disease": [{"text": "cryptogenic cirrhosis", "start": 182, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The effects of PPARgamma on HCC cell growth and apoptosis were examined using PPARgamma-expressing adenovirus (Ad-PPARgamma).", "output": {"entities": {"gene": [{"text": "HCC", "start": 28, "end": 31}], "disease": [{"text": "adenovirus", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Therefore, sporadic cases showing p53 + cells > Ki-67 + cells revealed alteration of the p53 gene, and expressed abnormal p53 protein (mutant form).", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 89, "end": 97}], "disease": [{"text": "sporadic", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Overall, our investigations suggest that DNA methylation and other mechanisms combine to regulate GGT gene expression in studied prostate adenocarcinoma derived cells.", "output": {"entities": {"gene": [{"text": "GGT", "start": 98, "end": 101}], "disease": [{"text": "prostate adenocarcinoma", "start": 129, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "This study determined if the Ad5-induced inhibition of IFN-MCP was independent of adenovirus (Ad) infection and secondary only to the expression of the Ad early region 1A gene (E1A).", "output": {"entities": {"gene": [{"text": "MCP", "start": 59, "end": 62}], "disease": [{"text": "adenovirus", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys).", "output": {"entities": {"gene": [{"text": "factor X", "start": 31, "end": 39}], "disease": [{"text": "factor X deficiency", "start": 87, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor X", "start": 31, "end": 39}, "tail": {"text": "factor X deficiency", "start": 87, "end": 106}}]}}, "schema": []}
{"input": "Moreover, there were no secondary effects in HLA-DRB3, HLA-DRB4, or HLA-DRB5 in RA or SLE.", "output": {"entities": {"gene": [{"text": "HLA-DRB5", "start": 68, "end": 76}], "disease": [{"text": "secondary", "start": 24, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that radiation-induced thoracic toxicity (RITT) of the lung, esophagus and pericardium share a similar mechanism, and aimed to examine whether genetic variation of transforming growth factor-beta1 (TGFβ1), tissue plasminogen activator (tPA) and angiotensin converting enzyme (ACE), are associated with RITT in patients with non-small-cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "ACE", "start": 292, "end": 295}], "disease": [{"text": "thoracic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 43, "end": 47}], "disease": [{"text": "mild proteinuria", "start": 106, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Functionally, Wnt5a lowers the concentration of IFN required to induce target genes, and increases the magnitude of IFN target gene induction, suggesting a molecular mechanism underlying IFN hypersensitivity in psoriasis.", "output": {"entities": {"gene": [{"text": "Wnt5a", "start": 14, "end": 19}], "disease": [{"text": "hypersensitivity", "start": 191, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The genetic analysis identified two variants near TRIB1 gene that independently contributed to both blood lipid levels and to TST (rs17321515, P = 8. 92 (*) 10 (-5), Bonferroni corrected P = 0. 0053, β = 0. 081 h per allele; rs2954029, P = 0. 00025, corrected P = 0. 015, β = 0. 076; P < 0. 001 for both variants after adjusting for blood lipid levels or body mass index).", "output": {"entities": {"gene": [{"text": "TST", "start": 126, "end": 129}], "disease": [{"text": "body mass index", "start": 355, "end": 370}]}, "relations": {}}, "schema": []}
{"input": "Nearly half of the sporadic fibrothecomas showed evidence of CpG promoter methylation, suggesting promoter downregulation as one mechanism of reduced TRIM37 expression.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 150, "end": 156}], "disease": [{"text": "sporadic", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We concluded that NK-1 and B2 receptors can regulate important steps in the local and remote inflammation during acute pancreatitis induced by sPLA2.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 143, "end": 148}], "disease": [{"text": "inflammation", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "An electrophoretic gel mobility shift assay showed a decrease in the cAMP response element (CRE)-DNA binding activity of CREB in the ischemic region on the third day after the microsphere embolism.", "output": {"entities": {"gene": [{"text": "CREB", "start": 121, "end": 125}], "disease": [{"text": "embolism", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "STBM prepared by placental lobe dual perfusion (pSTBM) and mechanical disruption (mSTBM) were analysed by four colour flow cytometry (4CFC), nanoparticle tracking analysis (NTA) and Western blotting to determine vesicle size, purity and Flt-1 and endoglin (Eng) expression.", "output": {"entities": {"gene": [{"text": "STBM", "start": 0, "end": 4}], "disease": [{"text": "vesicle", "start": 212, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "A reciprocal translocation, (12; 16) (q13; p11), is characteristic of the myxoid subtype of liposarcoma, whereas translocations within 12q13-14 are frequently observed in benign lipomas.", "output": {"entities": {"gene": [{"text": "p11", "start": 43, "end": 46}], "disease": [{"text": "lipomas", "start": 178, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Importantly, it was previously suggested that hypoxic cancer cells may be particularly sensitive to CHK1 inhibition.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 100, "end": 104}], "disease": [{"text": "hypoxic", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This study examines the expression of IFN-gamma, IL-4 and IL-13 mRNA in freshly isolated PBMC from adult patients with AD, from patients with psoriasis vulgaris and from healthy adults, using the semiquantitative reverse transcriptase-polymerase chain reaction (RT-PCR) method.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 49, "end": 53}], "disease": [{"text": "psoriasis vulgaris", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle.", "output": {"entities": {"gene": [{"text": "COX", "start": 127, "end": 130}], "disease": [{"text": "recurrent myoglobinuria", "start": 77, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Although Mammaglobin B gene expression levels were higher in endometrioid, mucinous and undifferentiated tumors when compared to serous papillary tumors, clear cell tumors and those with mixed histology, these differences were not statistically significant.", "output": {"entities": {"gene": [{"text": "Mammaglobin B", "start": 9, "end": 22}], "disease": [{"text": "tumors", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We aimed to determine whether first-degree relatives of type 2 diabetic subjects differ in insulin sensitivity from control subjects without a family history of diabetes, whether first-degree relatives of type 2 diabetic subjects and control subjects differ in CRP, adiponectin, and complement levels, and whether CRP is related to insulin sensitivity independently of adiposity.", "output": {"entities": {"gene": [{"text": "CRP", "start": 261, "end": 264}], "disease": [{"text": "insulin sensitivity", "start": 91, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Patients with locally recurrent or metastatic, radioiodine-refractory thyroid cancer, excluding medullary carcinoma, were treated with interferon alpha-2b 12 million units/m2 subcutaneously on days 1-5 and doxorubicin 40 mg/m2 intravenously, on day 3, every 28 days.", "output": {"entities": {"gene": [{"text": "interferon alpha-2b", "start": 135, "end": 154}], "disease": [{"text": "thyroid cancer", "start": 70, "end": 84}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon alpha-2b", "start": 135, "end": 154}, "tail": {"text": "thyroid cancer", "start": 70, "end": 84}}]}}, "schema": []}
{"input": "The following variables were analyzed: gender, donor and recipient ages, immunosuppressant, genotype, treatment duration, early viral response (EVR), pretreatment viral load, degree of fibrosis, levels of alanine aminotransferase and gamma-glutamyltransferase (IU/L), time since liver transplantation (OLT), use of stimulating factors (epoetin and granulocyte colony stimulating factor [G-CSF]) and side effects, and their association with SVR.", "output": {"entities": {"gene": [{"text": "granulocyte colony stimulating factor", "start": 348, "end": 385}], "disease": [{"text": "viral load", "start": 163, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "With adjustment for NAT1 genotype and race, the smoking-adjusted geometric mean level of 3-ABP-hemoglobin adducts in NAT2 slow acetylators was 47% higher than that in NAT2 rapid acetylators (P = 0. 01).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 117, "end": 121}], "disease": [{"text": "smoking", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier analysis and Cox proportional hazards regression models were used to investigate the correlation between FAT10 expression and prognosis of PDAC patients.", "output": {"entities": {"gene": [{"text": "FAT10", "start": 118, "end": 123}], "disease": [{"text": "regression", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The combined analysis of phase II detoxification system genes: arylamine N-acetyltransferase 2 (NAT2), and glutathione S-transferases (GST) M1 and T1 was carried out in patients with minimal/mild (group I; n = 36) and moderate/severe endometriosis (group II; n = 29) and controls (n = 72) of French origin, using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).", "output": {"entities": {"gene": [{"text": "GST", "start": 135, "end": 138}], "disease": [{"text": "mild", "start": 191, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In contrast, knockdown of VILIP-1 inhibits the development of bone cancer pain via downregulation of P2X3 receptors and repression of DRG excitability in MRMT-1 rats.", "output": {"entities": {"gene": [{"text": "DRG", "start": 134, "end": 137}], "disease": [{"text": "bone cancer", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The beta-adrenoceptor Galphas protein system plays an important role in heart rate regulation and lipid mobilization suggesting a key role for the stimulatory G protein Galphas in body weight regulation.", "output": {"entities": {"gene": [{"text": "stimulatory G protein", "start": 147, "end": 168}], "disease": [{"text": "body weight", "start": 180, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Natural killer (NK) group 2D (NKG2D) is a key activating receptor expressed on NK cells, whose interaction with ligands on target cells plays an important role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "NKG2D", "start": 30, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The tumor cell embolus (IBC spheroid), in contrast, fails to bind the surrounding vascular endothelial cells both in vitro and in vivo because of markedly decreased sialyl-Lewis X/A carbohydrate ligand-binding epitopes on its overexpressed MUC1 which are necessary for binding endothelial cell E-selectin.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 240, "end": 244}], "disease": [{"text": "embolus", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Immunostaining experiments using a LOX-specific antibody on EMT-6 cells cultured under hypoxic conditions confirmed the elevation of LOX expression in these cells.", "output": {"entities": {"gene": [{"text": "LOX", "start": 35, "end": 38}], "disease": [{"text": "hypoxic", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia.", "output": {"entities": {"gene": [{"text": "ABCG5", "start": 39, "end": 44}], "disease": [{"text": "sitosterolemia", "start": 76, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCG5", "start": 39, "end": 44}, "tail": {"text": "sitosterolemia", "start": 76, "end": 90}}]}}, "schema": []}
{"input": "Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.", "output": {"entities": {"gene": [{"text": "HOXA9", "start": 15, "end": 20}], "disease": [{"text": "Bladder Cancer", "start": 82, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXA9", "start": 15, "end": 20}, "tail": {"text": "Bladder Cancer", "start": 82, "end": 96}}]}}, "schema": []}
{"input": "Previous studies suggested an upregulation of KLK10 and KLK6 in pancreatic ductal adenocarcinoma (PDAC).", "output": {"entities": {"gene": [{"text": "KLK6", "start": 56, "end": 60}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 64, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 45, "end": 50}], "disease": [{"text": "obese", "start": 122, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD11b", "start": 45, "end": 50}, "tail": {"text": "obese", "start": 122, "end": 127}}]}}, "schema": []}
{"input": "A similar interaction was observed for the BDNF SNP cluster and the CC intervention on aggression (β =-. 14, p <. 05).", "output": {"entities": {"gene": [{"text": "BDNF", "start": 43, "end": 47}], "disease": [{"text": "aggression", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We investigated dehydration-induced changes in the SON and pituitary neurointermediate lobe (NIL) proteomes using two-dimensional fluorescence difference gel electrophoresis.", "output": {"entities": {"gene": [{"text": "SON", "start": 51, "end": 54}], "disease": [{"text": "dehydration", "start": 16, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Bronchial mucosal expression of the genes encoding chemokines RANTES and MCP-3 in symptomatic atopic and nonatopic asthmatics: relationship to the eosinophil-active cytokines interleukin (IL)-5, granulocyte macrophage-colony-stimulating factor, and IL-3.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 62, "end": 68}], "disease": [{"text": "atopic", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The positive rate of p14ARF expression was higher in SCC (83%) than in normal/inflammation of the cervix (25%; P < 0. 05).", "output": {"entities": {"gene": [{"text": "p14ARF", "start": 21, "end": 27}], "disease": [{"text": "inflammation", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Four cell lines-PC-3-Bcl-2 (Bcl-2 overexpression, deleted PTEN), PC-3-Neo (wild-type Bcl-2, deleted PTEN), LNCaP (Bcl-2 overexpression, deleted PTEN), and DU-145 (wild-type Bcl-2 and PTEN)-were transduced with a recombinant adenovirus-5 vector expressing the human wild-type PTEN cDNA under the control of a human cytomegalovirus promoter (Ad-MMAC).", "output": {"entities": {"gene": [{"text": "PC-3", "start": 16, "end": 20}], "disease": [{"text": "adenovirus", "start": 224, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Thus, we developed an oncolytic adenoviral vector, AdCN205, to co-express miRNA-34a and IL-24 driven by an adenovirus endogenous E3 promoter in HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 144, "end": 147}], "disease": [{"text": "adenovirus", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine whether environmental peanut exposure increases the odds of peanut allergy and whether FLG mutations modulate these odds.", "output": {"entities": {"gene": [{"text": "FLG", "start": 110, "end": 113}], "disease": [{"text": "peanut allergy", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examined the in vitro expression, induction and function of Epo and EpoR in papillary (NPA), follicular (WRO) and anaplastic (ARO-81) thyroid cancer cells.", "output": {"entities": {"gene": [{"text": "Epo", "start": 85, "end": 88}], "disease": [{"text": "thyroid cancer", "start": 159, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Epo", "start": 85, "end": 88}, "tail": {"text": "thyroid cancer", "start": 159, "end": 173}}]}}, "schema": []}
{"input": "To further investigate whether reduced 5-HTT function could be an endophenotype in manic depressive illness, we looked for abnormalities of platelet 5-HTT among subjects who are potential carriers of genetic vulnerability to manic depressive illness (MDI).", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 39, "end": 44}], "disease": [{"text": "abnormalities", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Individuals affected with the neurofibromatosis 1 (NF1) tumor predisposition syndrome are prone to the development of multiple nervous system tumors, including optic pathway gliomas (OPG).", "output": {"entities": {"gene": [{"text": "OPG", "start": 183, "end": 186}], "disease": [{"text": "gliomas", "start": 174, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 10, "end": 15}], "disease": [{"text": "Wilms tumour", "start": 100, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 10, "end": 15}, "tail": {"text": "Wilms tumour", "start": 100, "end": 112}}]}}, "schema": []}
{"input": "Multiple regression analysis indicated that the MCP-1 levels were significantly influenced by various factors including age, body mass index, smoking, alcohol intake, high density lipoprotein-cholesterol, and systolic blood pressure.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 48, "end": 53}], "disease": [{"text": "body mass index", "start": 125, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "One of the most replicated asthma candidate genes is ORM1-like 3 (Saccharomyces cerevisiae) (ORMDL3), which has been associated with childhood asthma susceptibility.", "output": {"entities": {"gene": [{"text": "ORMDL3", "start": 93, "end": 99}], "disease": [{"text": "asthma susceptibility", "start": 143, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "MBL2 B allele was significantly associated with severity of gastric mucosal atrophy and intestinal metaplasia (atrophy, G/G vs. G/A vs. A/A; P = 0. 02, A/A vs. others; P = 0. 009, intestinal metaplasia; G/G vs. G/A vs. A/A; P = 0. 03, A/A vs. others; P = 0. 004).", "output": {"entities": {"gene": [{"text": "MBL2", "start": 0, "end": 4}], "disease": [{"text": "atrophy", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Both the decrease of αKG and accumulation of D:-2-HG inhibit the activity of multiple dioxygenases including prolyl hydroxylase domain-2 (PHD2), collagen prolyl-4-hydroxylase, histone demethylases, and the ten-eleven translocation (TET) family of 5-methylcytosine hydroxylases.", "output": {"entities": {"gene": [{"text": "PHD2", "start": 138, "end": 142}], "disease": [{"text": "translocation", "start": 217, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "The observed correlation between the antiproliferative activity of PRP-1 and its action on downregulation of miR302c explains the peptides opposite effects on the upregulation of proliferation of adult mesenchymal stem cells, and the inhibition of the proliferation of human bone giant-cell tumor stromal cells, reported earlier.", "output": {"entities": {"gene": [{"text": "miR302c", "start": 109, "end": 116}], "disease": [{"text": "giant", "start": 280, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Mutations affecting PPP2R1B were found in four breast carcinomas, while mutations in PPP2R1A were found in carcinomas of the breast and of the lung and in one melanoma.", "output": {"entities": {"gene": [{"text": "PPP2R1B", "start": 20, "end": 27}], "disease": [{"text": "carcinomas", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The identity of these proteins was confirmed by their absence in tissues from patients with the fragile X syndrome and a FMR1 knock-out mouse.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 121, "end": 125}], "disease": [{"text": "fragile X syndrome", "start": 96, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMR1", "start": 121, "end": 125}, "tail": {"text": "fragile X syndrome", "start": 96, "end": 114}}]}}, "schema": []}
{"input": "Adenoviral-mediated gene transfer of Gadd45a results in suppression by inducing apoptosis and cell cycle arrest in pancreatic cancer cell.", "output": {"entities": {"gene": [{"text": "Gadd45a", "start": 37, "end": 44}], "disease": [{"text": "pancreatic cancer", "start": 115, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Gadd45a", "start": 37, "end": 44}, "tail": {"text": "pancreatic cancer", "start": 115, "end": 132}}]}}, "schema": []}
{"input": "The purpose of this study was to investigate whether protein expression of bone morphogenetic protein 7 (BMP7) is associated with clinico-pathologic characteristics in benign and malignant melanocytic skin tumors.", "output": {"entities": {"gene": [{"text": "BMP7", "start": 105, "end": 109}], "disease": [{"text": "skin tumors", "start": 201, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We also examined changes in sensory TRP agonist-specific acute licking/flicking or flinching behaviours and mechanical and thermal pain behaviours using Hargreaves, Randall-Selitto and von Frey assay systems in the absence and presence of inflammation.", "output": {"entities": {"gene": [{"text": "TRP", "start": 36, "end": 39}], "disease": [{"text": "inflammation", "start": 239, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB.", "output": {"entities": {"gene": [{"text": "COB", "start": 305, "end": 308}], "disease": [{"text": "abnormalities", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We conclude that women who are' QQ' homozygote for the MTHFD1 1258G--& gt; A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are' RQ' or' RR.'", "output": {"entities": {"gene": [{"text": "MTHFD1", "start": 55, "end": 61}], "disease": [{"text": "abruptio placentae", "start": 151, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MTHFD1", "start": 55, "end": 61}, "tail": {"text": "abruptio placentae", "start": 151, "end": 169}}]}}, "schema": []}
{"input": "The 3p21. 1-p21. 3 hereditary vascular retinopathy locus increases the risk for Raynaud' s phenomenon and migraine.", "output": {"entities": {"gene": [{"text": "p21", "start": 5, "end": 8}], "disease": [{"text": "retinopathy", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Prominent reactions of monocyte/macrophage lineage cells admixed with CD4 + and CD8 + T cells (granulomatous angiitis) were occasionally associated with beta-protein angiopathy.", "output": {"entities": {"gene": [{"text": "CD4", "start": 70, "end": 73}], "disease": [{"text": "angiopathy", "start": 166, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory.", "output": {"entities": {"gene": [{"text": "ASA", "start": 82, "end": 85}], "disease": [{"text": "metachromatic leukodystrophy", "start": 166, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASA", "start": 82, "end": 85}, "tail": {"text": "metachromatic leukodystrophy", "start": 166, "end": 194}}]}}, "schema": []}
{"input": "Here we describe a novel mutation in the ATP2B3 gene in a patient with global developmental delay, generalized hypotonia and cerebellar ataxia.", "output": {"entities": {"gene": [{"text": "ATP2B3 gene", "start": 41, "end": 52}], "disease": [{"text": "generalized hypotonia", "start": 99, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Unique association of myeloid neoplasm with eosinophilia and abnormalities of PDGFRA with TTP.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 78, "end": 84}], "disease": [{"text": "abnormalities", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers male development by acting as an analog of SRY.", "output": {"entities": {"gene": [{"text": "SOX3", "start": 92, "end": 96}], "disease": [{"text": "sex reversal", "start": 30, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Repair enhancement may explain chemoresistance, while loss of efficiency of certain functions, such as PRR, due to the intrinsic genetic lability of tumor cells, may generate the class of melanoma subclones exhibiting only normal resistance.", "output": {"entities": {"gene": [{"text": "PRR", "start": 103, "end": 106}], "disease": [{"text": "melanoma", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, GRIA1 mRNA was significantly increased in both cell types in the schizophrenia group compare to controls, while similar trends were observed in major depressive disorder (Layers II/III and V) and bipolar disorder (Layer V).", "output": {"entities": {"gene": [{"text": "GRIA1", "start": 15, "end": 20}], "disease": [{"text": "bipolar disorder", "start": 211, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA1", "start": 15, "end": 20}, "tail": {"text": "bipolar disorder", "start": 211, "end": 227}}]}}, "schema": []}
{"input": "First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 34, "end": 39}], "disease": [{"text": "cerebro-oculo-facio-skeletal syndrome", "start": 55, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ERCC1", "start": 34, "end": 39}, "tail": {"text": "cerebro-oculo-facio-skeletal syndrome", "start": 55, "end": 92}}]}}, "schema": []}
{"input": "The implied disruption of neuronal excitability is consistent with some features of HAD, including its potential reversibility after HIV-1 replication is suppressed, the abnormal electroencephalographic recordings, the lack of clear-cut correlation with neurodegeneration and the lack of strict correlation with brain inflammation.", "output": {"entities": {"gene": [{"text": "HAD", "start": 84, "end": 87}], "disease": [{"text": "neurodegeneration", "start": 254, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "Eight months after reoperation, plasma concentrations of IGF-I and IGF-II were normal, and high-molecular-weight IGF-II was virtually undetectable.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 57, "end": 62}], "disease": [{"text": "weight", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Patient factor VIII, von Willebrand factor, (vWF), fibrinogen, F1. 2 and D dimer were all significantly increased (p < 0. 01; antithrombin III, protein C and proteins were similar to controls.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 8, "end": 19}], "disease": [{"text": "fibrinogen", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Among subjects with different PP1 G subunit genotypes, there was no difference in blood pressure, serum cholesterol, plasma glucose and insulin levels, and glucose disposal rate estimated by the euglycemic hyperinsulinemic clamp test.", "output": {"entities": {"gene": [{"text": "PP1", "start": 30, "end": 33}], "disease": [{"text": "blood pressure", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The frequency of IL-4 + IFN-gamma-IL-10-CD4 + cells (Th2) was significantly higher in the group with mild atopic asthma than in that with mild non-atopic asthma.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 17, "end": 21}], "disease": [{"text": "mild", "start": 101, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "IL-4 induced a reduction in synovial tissue vessel density, which was paralleled by a decrease in inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The main feature of the Tg-A2aR/Tg-E7 mice is the rapid occurrence of malignant lesions, and the dissemination of malignant thyroid tissue through the blood stream, generating multiple differentiated and functional metastases in the lung.", "output": {"entities": {"gene": [{"text": "A2aR", "start": 27, "end": 31}], "disease": [{"text": "metastases", "start": 215, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We now demonstrate complete linkage of Gitelman' s syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects.", "output": {"entities": {"gene": [{"text": "thiazide-sensitive Na-Cl cotransporter", "start": 92, "end": 130}], "disease": [{"text": "Gitelman' s syndrome", "start": 39, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "thiazide-sensitive Na-Cl cotransporter", "start": 92, "end": 130}, "tail": {"text": "Gitelman' s syndrome", "start": 39, "end": 59}}]}}, "schema": []}
{"input": "The seventh pathogenic fusion gene FIP1L1-RARA was isolated from a t (4; 17)-positive acute promyelocytic leukemia.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 35, "end": 41}], "disease": [{"text": "acute promyelocytic leukemia", "start": 86, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIP1L1", "start": 35, "end": 41}, "tail": {"text": "acute promyelocytic leukemia", "start": 86, "end": 114}}]}}, "schema": []}
{"input": "The aim of this study is to verify whether the combination of glutathione S-transferase (GST) M1 null and GSTT1 null genotypes, which is a candidate genetic risk factor for troglitazone-induced liver failure, is common to that for the carbamazepine-induced mild hepatotoxicity.", "output": {"entities": {"gene": [{"text": "GST", "start": 89, "end": 92}], "disease": [{"text": "mild", "start": 257, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Promoter specific DNA methylation and gene expression of POMC in acutely underweight and recovered patients with anorexia nervosa.", "output": {"entities": {"gene": [{"text": "POMC", "start": 57, "end": 61}], "disease": [{"text": "underweight", "start": 73, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Here, we employed both cellular and in vivo assays to examine the effect of Nm23H1 and H2 on tumorigenesis induced by oncogenic Ras and/or p53 deficiency.", "output": {"entities": {"gene": [{"text": "Nm23H1", "start": 76, "end": 82}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the NR2E3-encoding gene cause various retinal degenerations, including Enhanced S-cone syndrome, retinitis pigmentosa, and Goldman-Favre disease.", "output": {"entities": {"gene": [{"text": "NR2E3", "start": 17, "end": 22}], "disease": [{"text": "Enhanced S-cone syndrome", "start": 84, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR2E3", "start": 17, "end": 22}, "tail": {"text": "Enhanced S-cone syndrome", "start": 84, "end": 108}}]}}, "schema": []}
{"input": "A novel mutation in the TTID gene results in the clinical and pathologic phenotype termed \" spheroid body myopathy. \"", "output": {"entities": {"gene": [{"text": "TTID", "start": 24, "end": 28}], "disease": [{"text": "spheroid body myopathy", "start": 92, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTID", "start": 24, "end": 28}, "tail": {"text": "spheroid body myopathy", "start": 92, "end": 114}}]}}, "schema": []}
{"input": "Immune activation, CD4 + T cell counts, and viremia exhibit oscillatory patterns over time in patients with highly resistant HIV infection.", "output": {"entities": {"gene": [{"text": "CD4", "start": 19, "end": 22}], "disease": [{"text": "viremia", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Treatment with figitumumab led to the dissociation of IGF1-dependent heterodimeric receptors and inhibited tumor growth with decreased levels of heterodimeric receptors in a mouse xenograft model.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 54, "end": 58}], "disease": [{"text": "dissociation", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Granulysin was only expressed in the lung and not in other organs following inhalation of rAdhGLi.", "output": {"entities": {"gene": [{"text": "Granulysin", "start": 0, "end": 10}], "disease": [{"text": "inhalation", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Of the 43 samples with translocations detected, 26 (60%) had an EWS-FLI1 type 1 translocation, 13 (30%) had an EWS-FLI1 type 2 translocation, 3 (7%) had an EWS-ERG translocation, 1 had an EWS-ETV1 translocation, and 1 sample had both an EWS-FLI1 type 1 and type 2 translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 64, "end": 67}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The messenger RNA and protein expression of SERCA were down-regulated (p & lt; 0. 01), but the expression of phospholamban messenger RNA and protein were up-regulated (p & lt; 0. 01) in MI rats compared to sham-operated rats.", "output": {"entities": {"gene": [{"text": "phospholamban", "start": 109, "end": 122}], "disease": [{"text": "MI", "start": 186, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phospholamban", "start": 109, "end": 122}, "tail": {"text": "MI", "start": 186, "end": 188}}]}}, "schema": []}
{"input": "Overall, fibroblasts exhibited a significant decrease in protein expression of all PKA subunits except for PRKAR1A, a pattern that has been associated with neoplastic transformation in several cell types.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 107, "end": 114}], "disease": [{"text": "neoplastic transformation", "start": 156, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "VEGF and Flk-1 play an important role in the pathogenesis of DN, of which over-expression may lead to the damage of kidney.", "output": {"entities": {"gene": [{"text": "Flk-1", "start": 9, "end": 14}], "disease": [{"text": "DN", "start": 61, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Flk-1", "start": 9, "end": 14}, "tail": {"text": "DN", "start": 61, "end": 63}}]}}, "schema": []}
{"input": "The 469 E/K polymorphism is in exon 6 and results in a change from glutamic acid to lysine in Ig-like domain 5 of ICAM-1, which is thought to affect interactions with LFA-1 and adhesion of B-cells.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 167, "end": 172}], "disease": [{"text": "adhesion", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the ITGA8 gene might have gender-specific roles in the development of schizophrenia.", "output": {"entities": {"gene": [{"text": "ITGA8", "start": 31, "end": 36}], "disease": [{"text": "schizophrenia", "start": 97, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITGA8", "start": 31, "end": 36}, "tail": {"text": "schizophrenia", "start": 97, "end": 110}}]}}, "schema": []}
{"input": "HepG2-ALR cell-derived subcutaneously grown tumors displayed fewer necrotic areas, more epithelial-like cell growth and fewer polymorphisms and atypical mitotic figures than tumors derived from HepG2 cells.", "output": {"entities": {"gene": [{"text": "ALR", "start": 6, "end": 9}], "disease": [{"text": "necrotic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Treatment significantly improved the clonogenic potential of bone marrow erythroid, myeloid, megakaryocytic colony-forming cells and increased the proportion of CD34 (+) cells expressing the adhesion molecules CD11a, CD49d, CD54, CXCR4 and the SLAM antigen CD48.", "output": {"entities": {"gene": [{"text": "CD48", "start": 257, "end": 261}], "disease": [{"text": "adhesion", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of the genes for pregnancy-associated plasma protein A (PAPPA), tomoregulin, cellular retinoid acid binding protein 1 (CRABP1), zinc finger protein 185 (ZFP 185) and latent transforming growth factor beta binding protein 2 (LTBP2) was demonstrated in individual leiomyoma samples compared with corresponding myometrium.", "output": {"entities": {"gene": [{"text": "PAPPA", "start": 77, "end": 82}], "disease": [{"text": "leiomyoma", "start": 283, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "However, a smoking and age-stratified analysis, revealed a statistically significant association between MDR1 genotypes and colorectal cancer in life-long non-smokers with an age > or = 63 years (the median age in our sample).", "output": {"entities": {"gene": [{"text": "MDR1", "start": 105, "end": 109}], "disease": [{"text": "smoking", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Hypertryptophanemia due to tryptophan 2, 3-dioxygenase deficiency.", "output": {"entities": {"gene": [{"text": "tryptophan 2, 3-dioxygenase", "start": 27, "end": 54}], "disease": [{"text": "Hypertryptophanemia", "start": 0, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tryptophan 2, 3-dioxygenase", "start": 27, "end": 54}, "tail": {"text": "Hypertryptophanemia", "start": 0, "end": 19}}]}}, "schema": []}
{"input": "Two days after global ischaemia CA1, CA3, dentate gyrus and cerebral cortex were obtained from sham-operated and I/R-injured 3-and 18-month-old Sprague-Dawley rats.", "output": {"entities": {"gene": [{"text": "CA1", "start": 32, "end": 35}], "disease": [{"text": "ischaemia", "start": 22, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the beta-hexosaminidase A or the GM2 activator, a glycolipid binding protein.", "output": {"entities": {"gene": [{"text": "GM2 activator", "start": 120, "end": 133}], "disease": [{"text": "neurological disorders", "start": 23, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Among the six adhesion molecules examined (LFA-1, ICAM-1, CLA, VLA-4, L-selectin and CD44), L-selectin increased the incidence of lymph node metastasis, and CD44 expression was related to both lymph node and organ (hematogenous) metastasis.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 43, "end": 48}], "disease": [{"text": "adhesion", "start": 14, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.", "output": {"entities": {"gene": [{"text": "CYR61", "start": 32, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The SNAP-25 gene may be associated with clinical response and weight gain in antipsychotic treatment of schizophrenia.", "output": {"entities": {"gene": [{"text": "SNAP-25", "start": 4, "end": 11}], "disease": [{"text": "weight gain", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The EMMPRIN scores in malignant ovary tumors were significantly higher than their nontumor counterparts (313 +/-28 for serous adenocarcinoma; 308 +/-25 for mucinous adenocarcinoma; 187 +/-19 for endometrioid adenocarcinoma; 265 +/-23 for yolk sac tumors; 87 +/-13 for clear cellcarcinoma; 126 +/-15 for dysgerminoma; 243 +/-26 for granulosa cell tumor; 87 +/-16 for transitional cell carcinoma).", "output": {"entities": {"gene": [{"text": "EMMPRIN", "start": 4, "end": 11}], "disease": [{"text": "granulosa cell tumor", "start": 331, "end": 351}]}, "relations": {}}, "schema": []}
{"input": "Inactivation of the effectors of replicative senescence, i. e. genes encoding one or more elements of the p16/pRB and/or ARF/p53/p21 anti-proliferative pathways, is required for telomerase depression leading to immortalization.", "output": {"entities": {"gene": [{"text": "ARF", "start": 121, "end": 124}], "disease": [{"text": "depression", "start": 189, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARF", "start": 121, "end": 124}, "tail": {"text": "depression", "start": 189, "end": 199}}]}}, "schema": []}
{"input": "Seven additional ARMC5 variants were subsequently identified in 5 of 21 patients with apparently sporadic PMAH and in 2 of 3 families with the disease.", "output": {"entities": {"gene": [{"text": "ARMC5", "start": 17, "end": 22}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14. 1-q22. 3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 242, "end": 246}], "disease": [{"text": "synophrys", "start": 172, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Genetic alteration of p53, but not overexpression of intratumoral p53 protein, or serum p53 antibody is a prognostic factor in sporadic colorectal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "p53", "start": 22, "end": 25}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Clarifying the novel regulatory mechanisms of fibrosis by the cytokine network consisting of TGF-β and IL-17A may lead to a new therapeutic approach for this disease.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 103, "end": 109}], "disease": [{"text": "fibrosis", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "KCNE1 mutations may be associated with mild LQTS phenotypes, and KCNE1 gene screening is of clinical importance for asymptomatic and mild LQTS patients.", "output": {"entities": {"gene": [{"text": "KCNE1 gene", "start": 65, "end": 75}], "disease": [{"text": "asymptomatic", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Ovarian carcinomas from 30 BRCA1 germ-line carriers of two distinct high penetrant founder mutations, 20 carrying the 1675delA and 10 the 1135insA, and 100 sporadic cases were characterized for somatic mutations in the TP53 gene.", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 219, "end": 228}], "disease": [{"text": "sporadic", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Comparison of relative TLR-2 and TLR-4 expression level of disease and healthy gingival tissue of smoking and non-smoking patients and periodontally healthy control patients.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 33, "end": 38}], "disease": [{"text": "smoking", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In the brain microvascular endothelial cells, hypoxia increased SUR1 abundance and expression of functional SUR1-regulated NC (Ca-ATP) channels.", "output": {"entities": {"gene": [{"text": "SUR1", "start": 64, "end": 68}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We investigated the genetic mechanisms behind the second event in breast tumors from 17 BRCA1 and eight BRCA2 germ-line mutation carriers, as compared with 21 sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 104, "end": 109}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The cardiac troponin I-interacting kinase (TNNI3K), a novel cardiac specific kinase, is associated with cardiomyocyte hypertrophy.", "output": {"entities": {"gene": [{"text": "TNNI3K", "start": 43, "end": 49}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 104, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "MXI1 thus displays allelic loss and mutation in some cases of prostate cancer that may contribute to the pathogenesis or neoplastic evolution of this common malignancy.", "output": {"entities": {"gene": [{"text": "MXI1", "start": 0, "end": 4}], "disease": [{"text": "prostate cancer", "start": 62, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MXI1", "start": 0, "end": 4}, "tail": {"text": "prostate cancer", "start": 62, "end": 77}}]}}, "schema": []}
{"input": "NK cells showed up-regulated cytotoxic activity toward various squamous oral cell carcinoma (OSC-70, HSC-2, HSC-3), and we determined that both IL-12 and IFN-gamma contributed to the CD40L-DC-mediated NK cell activation.", "output": {"entities": {"gene": [{"text": "OSC", "start": 93, "end": 96}], "disease": [{"text": "carcinoma", "start": 82, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "MiR-143/145 is down-regulated in cervical cancer, which may serve as a tumor suppressor by targeting KRAS and Ras-responsive element-binding protein (RREB1).", "output": {"entities": {"gene": [{"text": "RREB1", "start": 150, "end": 155}], "disease": [{"text": "cervical cancer", "start": 33, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "High DNMT1 and DNMT3b expression was found in 105/127 (83%) and 79/127 (62%) carcinomas, respectively.", "output": {"entities": {"gene": [{"text": "DNMT3b", "start": 15, "end": 21}], "disease": [{"text": "carcinomas", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT3b", "start": 15, "end": 21}, "tail": {"text": "carcinomas", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "The levels of CR1, DAF, and CD59 on E were analyzed in 176 HD patients with DMN, 101 HD patients with non-diabetes mellitus renal diseases (non-DMN), and 108 healthy individuals.", "output": {"entities": {"gene": [{"text": "CD59", "start": 28, "end": 32}], "disease": [{"text": "renal diseases", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The IGF2BP2 gene expression levels were assayed in 34 patients with chronic schizophrenia and 30 healthy controls by using real-time polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "IGF2BP2", "start": 4, "end": 11}], "disease": [{"text": "chronic schizophrenia", "start": 68, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF2BP2", "start": 4, "end": 11}, "tail": {"text": "chronic schizophrenia", "start": 68, "end": 89}}]}}, "schema": []}
{"input": "STAT3 inhibition was also effective in treating an RA model, collagen-induced arthritis, in vivo through significant reduction in expression of IL-6 family cytokines and RANKL, inhibiting both inflammation and joint destruction.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 0, "end": 5}], "disease": [{"text": "collagen-induced arthritis", "start": 61, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT3", "start": 0, "end": 5}, "tail": {"text": "collagen-induced arthritis", "start": 61, "end": 87}}]}}, "schema": []}
{"input": "Because the RAR alpha gene is mutated in all AML-M3 patients studied so far and because it is often the only mutation identified, several proposed mechanisms of leukemogenesis have evolved.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 16, "end": 26}], "disease": [{"text": "leukemogenesis", "start": 161, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: These results suggest that the oncogenic effect of the t (6; 22) translocation is due to the EWS-Oct-4B chimeric protein, and that alternative fusion of the EWS amino terminal domain to the Oct-4 DNA-binding domain produces another transforming chimeric product in human epithelial tumours.", "output": {"entities": {"gene": [{"text": "EWS", "start": 105, "end": 108}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Cytosolic, but not mitochondrial, oxidative stress is a likely contributor to cardiac hypertrophy resulting from cardiac specific GLUT4 deletion in mice.", "output": {"entities": {"gene": [{"text": "GLUT4", "start": 130, "end": 135}], "disease": [{"text": "cardiac hypertrophy", "start": 78, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLUT4", "start": 130, "end": 135}, "tail": {"text": "cardiac hypertrophy", "start": 78, "end": 97}}]}}, "schema": []}
{"input": "Using the polymerase chain reaction and the restriction fragment length polymorphism method, we screened for E318G mutation in a total of 16 familial (FAD) cases, in 64 sporadic neuropathologically confirmed AD cases and in 270 non-demented controls including 35 neuropathologically confirmed individuals.", "output": {"entities": {"gene": [{"text": "FAD", "start": 151, "end": 154}], "disease": [{"text": "sporadic", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "This study aims at defining the role of microglial kinin B1R in diabetic pain neuropathy.", "output": {"entities": {"gene": [{"text": "B1R", "start": 57, "end": 60}], "disease": [{"text": "neuropathy", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The tissue transcript levels of VEGF, HIF-1α and endostatin were found to be significantly higher in HCC in comparison to cirrhosis and chronic hepatitis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 101, "end": 104}], "disease": [{"text": "chronic hepatitis", "start": 136, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In addition, the CC group was subcategorized into chronic hepatitis and HCC subgroups.", "output": {"entities": {"gene": [{"text": "HCC", "start": 72, "end": 75}], "disease": [{"text": "chronic hepatitis", "start": 50, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Some information of these subjects including demographic; history of disease, family history of diseases, lifestyle and behavior style variables was obtained by questionnaire; some variables were measured, including systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting blood glucose (FBG), quantity of protein in 24h urine.", "output": {"entities": {"gene": [{"text": "DBP", "start": 273, "end": 276}], "disease": [{"text": "systolic blood pressure", "start": 216, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of IL-4 and IL-10 were very low compared to those of IL-12 in seven of the 30 patients with RA; all of these patients were in stage 4, and serum levels of CRP, ESR and blood platelet count which are considered as indices of the severity of inflammation, were significantly elevated in these seven patients compared to the other 23 RA patients.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 19, "end": 23}], "disease": [{"text": "inflammation", "start": 256, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Pranlukast, tacrolimus and dexamethasone significantly inhibited production of TNF-alpha and nuclear-translocation of NF-kappa B in PBM of atopic asthmatics (P < 0. 01).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 79, "end": 88}], "disease": [{"text": "translocation", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "TDT showed weak evidence of allelic association between endometriosis and rs500760 (P = 0. 027) but not in the expected direction.", "output": {"entities": {"gene": [{"text": "TDT", "start": 0, "end": 3}], "disease": [{"text": "endometriosis", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Five of these deregulated genes (LEPRE1, MICAL2, RAB23, STXBP1, SYTL1) were specifically deregulated in FGFR3-non-mutated muscle-invasive tumors.", "output": {"entities": {"gene": [{"text": "LEPRE1", "start": 33, "end": 39}], "disease": [{"text": "tumors", "start": 138, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In animal models, the leptin (LEP) and the leptin receptor (LEPR) genes have been shown to be very important in obesity because leptin functions as a negative feedback signal in regulating body-weight through reducing food intake and stimulating energy expenditure.", "output": {"entities": {"gene": [{"text": "LEP", "start": 30, "end": 33}], "disease": [{"text": "weight", "start": 194, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.", "output": {"entities": {"gene": [{"text": "MSX2", "start": 121, "end": 125}], "disease": [{"text": "craniosynostosis (Boston type", "start": 41, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSX2", "start": 121, "end": 125}, "tail": {"text": "craniosynostosis (Boston type", "start": 41, "end": 70}}]}}, "schema": []}
{"input": "Our goal was to investigate whether genetic variation in TNF and LTA is associated with asthma and atopy and whether the association is modified by parental smoking in a Mexican population with high ozone exposure.", "output": {"entities": {"gene": [{"text": "TNF", "start": 57, "end": 60}], "disease": [{"text": "smoking", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "A novel, rapid, and accurate method for detecting microdeletion involving the DAZ gene in infertile men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 78, "end": 81}], "disease": [{"text": "infertile", "start": 90, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In the whole-study sample, a positive association of HTR2A gene methylation with waist circumference and insulin levels was detected at baseline.", "output": {"entities": {"gene": [{"text": "HTR2A gene", "start": 53, "end": 63}], "disease": [{"text": "waist circumference", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "There are lower levels of GAS5 and higher levels of miR-21 in HCC cell lines (Be7402, SMMC-7721, and HCCLM3) than in normal liver L-02 cells, and the levels correlate with the aggression of the HCC cell lines.", "output": {"entities": {"gene": [{"text": "HCC", "start": 62, "end": 65}], "disease": [{"text": "aggression", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "EphB4 activation enhanced P selectin glycoprotein ligand-1 (PSGL-1) expression and EPC adhesion.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Histological examination after PDT of normal retina and choroid using targeted verteporfin and irradiation at 1 hour showed minimal effect on retinal pigment epithelium and no injury to photoreceptors, whereas PDT using verteporfin-PVA resulted in retinal pigment epithelium necrosis and mild damage to photoreceptors.", "output": {"entities": {"gene": [{"text": "PVA", "start": 232, "end": 235}], "disease": [{"text": "necrosis", "start": 275, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Class I beta-tubulin gene mutation with amino acid substitution was not detected in 82 breast cancer specimens.", "output": {"entities": {"gene": [{"text": "Class I beta-tubulin", "start": 0, "end": 20}], "disease": [{"text": "breast cancer", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "These in vitro data were confirmed in an in vivo uPAR knock out Plaur (-/-) mice model by demonstrating that the infusion of suPAR inhibits expression of nephrin and WT-1 in podocytes and induces proteinuria.", "output": {"entities": {"gene": [{"text": "Plaur", "start": 64, "end": 69}], "disease": [{"text": "proteinuria", "start": 196, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "This study is to investigate the association of fibroblast growth factor receptor 2 (FGFR2) rs2981582, trinucleotide-repeat-containing 9 (TNRC9) rs3803662, rs12443621, and leukocyte-specific protein 1 (LSP1) rs3817198 polymorphisms with breast cancer and mammographic density in Han Chinese population.", "output": {"entities": {"gene": [{"text": "LSP1", "start": 202, "end": 206}], "disease": [{"text": "mammographic density", "start": 255, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "The relationship of the apolipoprotein E gene polymorphism in Turkish Type 2 Diabetic Patients with and without diabetic foot ulcers.", "output": {"entities": {"gene": [{"text": "apolipoprotein E gene", "start": 24, "end": 45}], "disease": [{"text": "diabetic foot ulcers", "start": 112, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Although we found no compelling evidence that TTV was the direct cause of ARD in some of the children studied, the average loads of TTV were considerably higher in patients with bronchopneumonia (BP) than in those with milder ARD, raising interesting questions about the pathophysiological significance of TTV at this site.", "output": {"entities": {"gene": [{"text": "TTV", "start": 46, "end": 49}], "disease": [{"text": "bronchopneumonia", "start": 178, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "These results suggest the possible utility of LPA (1) as a drug target to interfere with progression of prostate cancer.", "output": {"entities": {"gene": [{"text": "LPA (1", "start": 46, "end": 52}], "disease": [{"text": "prostate cancer", "start": 104, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LPA (1", "start": 46, "end": 52}, "tail": {"text": "prostate cancer", "start": 104, "end": 119}}]}}, "schema": []}
{"input": "Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 105, "end": 109}], "disease": [{"text": "cystic fibrosis", "start": 39, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 105, "end": 109}, "tail": {"text": "cystic fibrosis", "start": 39, "end": 54}}]}}, "schema": []}
{"input": "Furthermore, viral-mediated HDAC5 overexpression in the hippocampus blocked imipramine' s ability to reverse depression-like behavior.", "output": {"entities": {"gene": [{"text": "HDAC5", "start": 28, "end": 33}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC5", "start": 28, "end": 33}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "To develop a clinically applicable method that can predict the pathogenicity of VUS that does not require familial information or segregation analysis, we identified characteristics of breast or ovarian tumors that distinguished sporadic tumors from tumors with BRCA1 or BRCA2 mutations.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 271, "end": 276}], "disease": [{"text": "sporadic", "start": 229, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "FoxP3 and CD3 expression and location were determined in stage II and III colon carcinomas (n = 160) and normal mucosa (n = 25) by immunohistochemistry; CD4 and FoxP3 were localized by dual immunofluorescence microscopy.", "output": {"entities": {"gene": [{"text": "CD4", "start": 153, "end": 156}], "disease": [{"text": "carcinomas", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We conclude that osteosclerosis in IMF is associated with increased endothelial OPG expression without concomitant RANKL downregulation.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 115, "end": 120}], "disease": [{"text": "osteosclerosis", "start": 17, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Our previous studies have shown that (i) CARF is up-regulated during replicative and stress-induced senescence, and its exogenous overexpression caused senescence-like growth arrest of cells, and (ii) suppression of CARF induces aneuploidy, DNA damage, and mitotic catastrophe, resulting in apoptosis via the ATR/CHK1 pathway.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 313, "end": 317}], "disease": [{"text": "aneuploidy", "start": 229, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "The IL1B-31T > C (MAF = 34%) polymorphism was also associated with total fat (P = 0. 007) and regional fat masses, but not lean body mass.", "output": {"entities": {"gene": [{"text": "MAF", "start": 18, "end": 21}], "disease": [{"text": "lean body mass", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.", "output": {"entities": {"gene": [{"text": "ITSN2", "start": 85, "end": 90}], "disease": [{"text": "breast cancer", "start": 256, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITSN2", "start": 85, "end": 90}, "tail": {"text": "breast cancer", "start": 256, "end": 269}}]}}, "schema": []}
{"input": "Western blotting confirmed a significant increase in ceruloplasmin levels in placental tissue in PE compared to PC groups.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 53, "end": 66}], "disease": [{"text": "PE", "start": 97, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 53, "end": 66}, "tail": {"text": "PE", "start": 97, "end": 99}}]}}, "schema": []}
{"input": "Using linkage analysis in 148 Chinese hypertensive families, we identified a region of linkage with systolic blood pressure (SBP) and diastolic blood pressure (DBP) that consisted of a 10. 6-cM interval defined by markers D8S1145, D8S261, and D8S282 on chromosome 8, which maps between 31 to 41. 6 cM from the 8p-telomere contained LPL gene, with statistically significant p values for the marker D8S261 (p = 0. 0021 for SBP, and p = 0. 0395 for DBP).", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 332, "end": 340}], "disease": [{"text": "diastolic blood pressure", "start": 134, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Sanger sequencing confirmed the presence of DHODH mutations in three additional families with Miller syndrome.", "output": {"entities": {"gene": [{"text": "DHODH", "start": 44, "end": 49}], "disease": [{"text": "Miller syndrome", "start": 94, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHODH", "start": 44, "end": 49}, "tail": {"text": "Miller syndrome", "start": 94, "end": 109}}]}}, "schema": []}
{"input": "The gene expression of the Th1 cytokines IL-12p35, IL-12p40 and IFN-γ and their related transcription factors STAT4, SOCS5 and T-bet, the Th2 cytokines IL-4 and IL-13 and transcription factors STAT6, SOCS3 and GATA-3 and the regulatory cytokines IL-10 and TGF-β and the transcription factor FOXP3 was evaluated in healthy control and atopic dogs.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 200, "end": 205}], "disease": [{"text": "atopic", "start": 334, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "This study evaluated the hypothesis that fibrogenic repair in nonalcoholic fatty liver disease (NAFLD) is mediated by Hedgehog (Hh) pathway activation and consequent induction of epithelial-to-mesenchymal transitions (EMT) in ductular-type progenitors.", "output": {"entities": {"gene": [{"text": "EMT", "start": 218, "end": 221}], "disease": [{"text": "nonalcoholic fatty liver disease", "start": 62, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The model with the best fit combined 8 covariates, including the 5 clinicopathological variables prostate specific antigen, Gleason score, pathological stage, lymph node involvement and margin status, and 3 single nucleotide polymorphisms at the KLK2, SULT1A1 and TLR4 genes.", "output": {"entities": {"gene": [{"text": "KLK2", "start": 246, "end": 250}], "disease": [{"text": "fit", "start": 24, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Seventeen renal tumors [13 renal cell carcinomas (RCCs), two Wilms' tumors, one oncocytoma, and one metastatic ganglioneuroblastoma] and their corresponding normal kidney tissues were examined for EGFR gene structural integrity by Southern blot hybridization.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 197, "end": 206}], "disease": [{"text": "oncocytoma", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To investigate if genes associated with cleft lip/palate were also associated with oral cancer, we genotyped 188 individuals with OSCC and 225 control individuals for markers in AXIN2, AXIN1, GSK3β, WNT3A, WNT5A, WNT8A, WNT11, WNT3, and WNT9B.", "output": {"entities": {"gene": [{"text": "AXIN2", "start": 178, "end": 183}], "disease": [{"text": "cleft lip/palate", "start": 40, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "MCM were susceptible to SHIV (SF162P4cy) infection as shown by viremia and loss of CD4 + T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 83, "end": 86}], "disease": [{"text": "viremia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 72, "end": 81}], "disease": [{"text": "hemophilia B", "start": 22, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 72, "end": 81}, "tail": {"text": "hemophilia B", "start": 22, "end": 34}}]}}, "schema": []}
{"input": "Furthermore, recombinant ADAMTS13 did not enhance bleeding in a hemorrhagic stroke model.", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 25, "end": 33}], "disease": [{"text": "hemorrhagic stroke", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Hereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by primary erythrocyte dehydration.", "output": {"entities": {"gene": [{"text": "MIM", "start": 28, "end": 31}], "disease": [{"text": "dehydration", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We have characterised the expression of the syntrophins (alpha-, beta1-, and beta2-) and alpha-dystrobrevin by immunohistochemistry in normal human muscle and in biopsies from 162 patients with myopathies of unknown aetiology (with normal staining for dystrophin and other dystrophin-associated proteins).", "output": {"entities": {"gene": [{"text": "beta2", "start": 77, "end": 82}], "disease": [{"text": "myopathies", "start": 194, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Given the role of GAP-43 in the establishment and reorganization of synaptic connections, the finding of selective reduction of this protein in prefrontal cortex suggests that a dysfunctional synaptic organization in this region may be associated with depression and suicidal behaviour.", "output": {"entities": {"gene": [{"text": "GAP-43", "start": 18, "end": 24}], "disease": [{"text": "depression", "start": 252, "end": 262}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAP-43", "start": 18, "end": 24}, "tail": {"text": "depression", "start": 252, "end": 262}}]}}, "schema": []}
{"input": "Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 60, "end": 65}], "disease": [{"text": "Rett syndrome", "start": 77, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MeCP2", "start": 60, "end": 65}, "tail": {"text": "Rett syndrome", "start": 77, "end": 90}}]}}, "schema": []}
{"input": "It is a novel tumor marker for human HCC: GPC3 protein was present in sera from 40-50% of HCC patients, but was not detected in sera from patients with liver cirrhosis or chronic hepatitis, or in sera from healthy individuals.", "output": {"entities": {"gene": [{"text": "HCC", "start": 37, "end": 40}], "disease": [{"text": "chronic hepatitis", "start": 171, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "In biological studies with human esophageal squamous cell carcinoma cell line, MTA1 plays its roles to promote cancer cell invasion, adhesion and movement.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 79, "end": 83}], "disease": [{"text": "adhesion", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In search of potential urinary biomarkers of obstructive nephropathy, this study examined whether a potential change in the concentration of urinary cytokines [interferon-γ (IFN-γ), interleukin-1β (IL-1β), IL-2, IL-6, IL-10 and tumour necrosis factor-α (TNF-α)] reliably reflects changes in renal parenchymal levels of the same cytokines following the release of acute and chronic unilateral ureteral obstruction, respectively.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 212, "end": 216}], "disease": [{"text": "obstructive nephropathy", "start": 45, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The lipoapoptosis susceptibility by FATP4 was coupled with the increased JNK, PUMA, caspase3, PARP-1 activation as well as Rac-1-mediated cytoskeletal reorganization, and decreased insulin sensitivity.", "output": {"entities": {"gene": [{"text": "Rac-1", "start": 123, "end": 128}], "disease": [{"text": "insulin sensitivity", "start": 181, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "The lesions in acute hepatitis (AH) and chronic hepatitis (CH) are mild, but in severe hepatitis (SH), it can be very serious and cause liver function failure, therefore, we should pay more attention to TTV when studying the possible pathogens of so-called \" liver hepatitis of unknown etiology \".", "output": {"entities": {"gene": [{"text": "TTV", "start": 203, "end": 206}], "disease": [{"text": "chronic hepatitis", "start": 40, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In a hamster model of N-methyl-N-benzylnitrosamine (MBN)-induced oral carcinogenesis, the incidence of buccal pouch (HBP) carcinomas in MBN-treated hamsters (17. 8 +/-7. 5) was significantly higher than MBN-treated hamsters given tea (10. 8 +/-3. 9) (P < 0. 05).", "output": {"entities": {"gene": [{"text": "HBP", "start": 117, "end": 120}], "disease": [{"text": "carcinogenesis", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Genomic studies repeatedly revealed several novel melanoma marker genes including those of the transcription factor NOTCH2, WNT5A, proliferation-associated genes TOPO2A and CDC2, membrane receptors FGFR and EphA3, adhesion molecules N-cadherin, beta3 integrin and syndecan-4, and the cell surface antigens CD59/protectin and MIA.", "output": {"entities": {"gene": [{"text": "CDC2", "start": 173, "end": 177}], "disease": [{"text": "adhesion", "start": 214, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, TK reduced gentamicin-induced renal dysfunction and fibrosis as evidenced by decreased myofibroblast and collagen accumulation in the kidney.", "output": {"entities": {"gene": [{"text": "TK", "start": 13, "end": 15}], "disease": [{"text": "fibrosis", "start": 65, "end": 73}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TK", "start": 13, "end": 15}, "tail": {"text": "fibrosis", "start": 65, "end": 73}}]}}, "schema": []}
{"input": "Functional analysis of PIK3CA gene mutations in human colorectal cancer.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 23, "end": 29}], "disease": [{"text": "colorectal cancer", "start": 54, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3CA", "start": 23, "end": 29}, "tail": {"text": "colorectal cancer", "start": 54, "end": 71}}]}}, "schema": []}
{"input": "These novel findings collectively suggest that ARL6IP1 may play a key role in cisplatin-induced apoptosis in CaSki cervical cancer cells by regulating the expression of apoptosis-associated proteins such as caspase-3,-9, p53, NF-kappaB, MAPK, Bcl-2, Bcl-xl, and Bax.", "output": {"entities": {"gene": [{"text": "Bcl-xl", "start": 250, "end": 256}], "disease": [{"text": "cervical cancer", "start": 115, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings suggest that STEP (61) accumulation may contribute to the pathophysiology of SZ.", "output": {"entities": {"gene": [{"text": "STEP (61", "start": 42, "end": 50}], "disease": [{"text": "SZ", "start": 106, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STEP (61", "start": 42, "end": 50}, "tail": {"text": "SZ", "start": 106, "end": 108}}]}}, "schema": []}
{"input": "It is hypothesized that the activity of epoxide hydrolase (EPHX2), which determines EET concentration through hydrolysis, may affect the progression of glomerulonephritis.", "output": {"entities": {"gene": [{"text": "epoxide hydrolase", "start": 40, "end": 57}], "disease": [{"text": "glomerulonephritis", "start": 152, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "These studies indicate that PAR-1 and hematopoietic cell TF are required for liver inflammation and steatosis in mice fed a Western diet.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 28, "end": 33}], "disease": [{"text": "liver inflammation", "start": 77, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAR-1", "start": 28, "end": 33}, "tail": {"text": "liver inflammation", "start": 77, "end": 95}}]}}, "schema": []}
{"input": "Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.", "output": {"entities": {"gene": [{"text": "TWIST2", "start": 74, "end": 80}], "disease": [{"text": "Setleis syndrome", "start": 0, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TWIST2", "start": 74, "end": 80}, "tail": {"text": "Setleis syndrome", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "This adenovirus, designated Ad. HS4. AFP. E1A/TRAIL, expresses E1A to mediate viral replication and TRAIL to enhance HCC-killing efficacy under the control of a modified AFP promoter.", "output": {"entities": {"gene": [{"text": "HCC", "start": 117, "end": 120}], "disease": [{"text": "adenovirus", "start": 5, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "DPP6 and FGGY genes have been recently associated with an increased susceptibility for sporadic amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "FGGY", "start": 9, "end": 13}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We examined four known polymorphisms, C282Y and H63D in the HFE gene, G258S in the TF gene and S82G in the TFR gene, in 181 sporadic PD patients and 180 controls from Southern Italy to investigate their possible role in susceptibility to PD.", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 60, "end": 68}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that viruses may contribute to airway remodeling through increased ECM deposition, which in turn may contribute to increased ASM mass via increased cell migration.", "output": {"entities": {"gene": [{"text": "ECM", "start": 87, "end": 90}], "disease": [{"text": "airway remodeling", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the data identify a new protein essential for notochord morphogenesis, extend our understanding of gene-nutrient interactions in early development, and suggest that human mutations in COL8A1 may cause structural birth defects.", "output": {"entities": {"gene": [{"text": "COL8A1", "start": 200, "end": 206}], "disease": [{"text": "birth defects", "start": 228, "end": 241}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COL8A1", "start": 200, "end": 206}, "tail": {"text": "birth defects", "start": 228, "end": 241}}]}}, "schema": []}
{"input": "We detected 3 different PRRT2 heterozygous mutations: the recurrent p. Arg217Profs * 8 mutation, previously reported, was identified in 2 families with ICCA, 2 families with PKD, and one individual with sporadic PKD; one novel missense mutation (p. Ser275Phe) was detected in the remaining family with ICCA; and one novel truncating mutation (p. Arg217 *) was found in one individual with sporadic PKD.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 24, "end": 29}], "disease": [{"text": "sporadic", "start": 203, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "We report here the lack of CD40L expression in four unrelated male children with the hyper-IgM syndrome.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 27, "end": 32}], "disease": [{"text": "hyper-IgM syndrome", "start": 85, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD40L", "start": 27, "end": 32}, "tail": {"text": "hyper-IgM syndrome", "start": 85, "end": 103}}]}}, "schema": []}
{"input": "A Japanese girl (GPI Fukuoka) had an episode of prolonged neonatal jaundice and at 3 years of age was admitted due to acute hemolytic crisis occurring with upper respiratory tract infection.", "output": {"entities": {"gene": [{"text": "GPI", "start": 17, "end": 20}], "disease": [{"text": "prolonged neonatal jaundice", "start": 48, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the role of NIPP1 in HCC development under hypoxia.", "output": {"entities": {"gene": [{"text": "NIPP1", "start": 53, "end": 58}], "disease": [{"text": "hypoxia", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "This manuscript tested the hypothesis that adolescent binge drinking upregulates RAGE and Toll-like receptor (TLR) 4 as well as their endogenous agonist, high-mobility group box 1 (HMGB1).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 81, "end": 85}], "disease": [{"text": "binge drinking", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Fut8 (-/-) mice exhibited multiple behavioral abnormalities consistent with a schizophrenia-like phenotype.", "output": {"entities": {"gene": [{"text": "Fut8", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 78, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fut8", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 78, "end": 91}}]}}, "schema": []}
{"input": "Expression of tissue PPARgamma, tissue levels of IL-1beta and IL-8, and plasma concentration of gastrin were significantly higher in H. pylori-positive GC compared to controls, but H. pylori eradication significantly reduced these parameters.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 62, "end": 66}], "disease": [{"text": "GC", "start": 152, "end": 154}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-8", "start": 62, "end": 66}, "tail": {"text": "GC", "start": 152, "end": 154}}]}}, "schema": []}
{"input": "Prognostic value of serum C-reactive protein in kala-azar.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 26, "end": 44}], "disease": [{"text": "kala-azar", "start": 48, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C-reactive protein", "start": 26, "end": 44}, "tail": {"text": "kala-azar", "start": 48, "end": 57}}]}}, "schema": []}
{"input": "Overall, we find that CYBC1 deficiency results in CGD characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction.", "output": {"entities": {"gene": [{"text": "CYBC1", "start": 22, "end": 27}], "disease": [{"text": "CGD", "start": 50, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYBC1", "start": 22, "end": 27}, "tail": {"text": "CGD", "start": 50, "end": 53}}]}}, "schema": []}
{"input": "Altogether, WDR73 mutations cause Galloway-Mowat syndrome in a particular subset of individuals presenting with late-onset nephrotic syndrome, postnatal microcephaly, severe intellectual disability, and homogenous brain MRI features.", "output": {"entities": {"gene": [{"text": "WDR73", "start": 12, "end": 17}], "disease": [{"text": "Galloway-Mowat syndrome", "start": 34, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WDR73", "start": 12, "end": 17}, "tail": {"text": "Galloway-Mowat syndrome", "start": 34, "end": 57}}]}}, "schema": []}
{"input": "In the present study, the relationship between diabetic nephropathy and Txnip was investigated using streptozotocin (STZ)-induced diabetic mice.", "output": {"entities": {"gene": [{"text": "Txnip", "start": 72, "end": 77}], "disease": [{"text": "diabetic nephropathy", "start": 47, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Txnip", "start": 72, "end": 77}, "tail": {"text": "diabetic nephropathy", "start": 47, "end": 67}}]}}, "schema": []}
{"input": "Re-expression of TFF2 in gastric epithelial dysplasia implies that TFF2 possibly contributes to the initiation of gastric carcinoma.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 17, "end": 21}], "disease": [{"text": "epithelial dysplasia", "start": 33, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We found statistically significant differences (P < 0. 01) between the healthy volunteers and patients with severe periodontitis in the following genes; gonadotropin-releasing hormone 1 (GNRH1), phosphatidylinositol 3-kinase regulatory 1 (PIK3R1), dipeptidylpeptidase 4 (DPP4), fibrinogen-like 2 (FGL2), and calcitonin receptor (CALCR).", "output": {"entities": {"gene": [{"text": "PIK3R1", "start": 239, "end": 245}], "disease": [{"text": "severe periodontitis", "start": 108, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Transcript levels of c-kit and the two SCF splicing variants were determined quantitatively by real-time RT-PCR using cDNA obtained from normal, premalignant and malignant snap frozen colon tissue specimens.", "output": {"entities": {"gene": [{"text": "SCF", "start": 39, "end": 42}], "disease": [{"text": "premalignant", "start": 145, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The incidence of basal cell carcinoma (BCC) is significantly reduced in individuals treated with inhibitors of angiotensin I-converting enzyme (ACE) that produces angiotensin II.", "output": {"entities": {"gene": [{"text": "ACE", "start": 144, "end": 147}], "disease": [{"text": "basal cell carcinoma", "start": 17, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "New intellectual disability syndrome identified: WDR26 haploinsufficiency is rare but could provide explanations to some patients.", "output": {"entities": {"gene": [{"text": "WDR26", "start": 49, "end": 54}], "disease": [{"text": "intellectual disability", "start": 4, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WDR26", "start": 49, "end": 54}, "tail": {"text": "intellectual disability", "start": 4, "end": 27}}]}}, "schema": []}
{"input": "The gene encoding the vesicular monoamine transporter 1 (VMAT1/SLC18A1) maps to chromosome 8p21, a region where several linkage peaks overlap between schizophrenia, bipolar disorder and anxiety-related personality traits.", "output": {"entities": {"gene": [{"text": "SLC18A1", "start": 63, "end": 70}], "disease": [{"text": "personality traits", "start": 202, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 46, "end": 52}], "disease": [{"text": "juvenile polyposis", "start": 84, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1A", "start": 46, "end": 52}, "tail": {"text": "juvenile polyposis", "start": 84, "end": 102}}]}}, "schema": []}
{"input": "We previously showed that p66 (Shc) protein level is upregulated by steroid hormones in human carcinoma cells and is higher in prostate cancer (PCa) specimens than adjacent noncancerous cells.", "output": {"entities": {"gene": [{"text": "p66", "start": 26, "end": 29}], "disease": [{"text": "carcinoma", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 40, "end": 45}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 40, "end": 45}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "Genes showing increased expression in carcinomas by cDNA microarray analysis (and further validated by immunohistochemistry and western blot analysis) include cyclin D1, PDGF-A chain, retinol binding protein 1, prohibitin and the transcription factor STAT5A.", "output": {"entities": {"gene": [{"text": "retinol binding protein 1", "start": 184, "end": 209}], "disease": [{"text": "carcinomas", "start": 38, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "retinol binding protein 1", "start": 184, "end": 209}, "tail": {"text": "carcinomas", "start": 38, "end": 48}}]}}, "schema": []}
{"input": "A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.", "output": {"entities": {"gene": [{"text": "nucleoporin-107", "start": 18, "end": 33}], "disease": [{"text": "XX gonadal dysgenesis", "start": 46, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nucleoporin-107", "start": 18, "end": 33}, "tail": {"text": "XX gonadal dysgenesis", "start": 46, "end": 67}}]}}, "schema": []}
{"input": "Based on these data we hypothesize that DCD may play a role in tumorigenesis by means of enhancing cell growth and survival in a subset of breast carcinomas.", "output": {"entities": {"gene": [{"text": "DCD", "start": 40, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The differential diagnoses of SC include acinic cell carcinoma (ACCA) and cystic hypersecretory carcinoma (CHC), as well as invasive ductal carcinoma (IDC).", "output": {"entities": {"gene": [{"text": "ACCA", "start": 64, "end": 68}], "disease": [{"text": "acinic cell carcinoma", "start": 41, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the regulation of several genes and proteins involved in the activation of key signaling pathways promoting muscle hypertrophy, including GH/STAT5, IGF-1/Akt/GSK-3beta/4E-BP1, and muscle atrophy, including TNFalpha/SOCS-3 and Akt/FKHR/atrogene, in muscle biopsies from 13 young (20 +/-0. 2 years) and 16 older (70 +/-0. 3 years) males.", "output": {"entities": {"gene": [{"text": "BP1", "start": 195, "end": 198}], "disease": [{"text": "muscle hypertrophy", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting.", "output": {"entities": {"gene": [{"text": "PIP5K3", "start": 110, "end": 116}], "disease": [{"text": "CFD", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIP5K3", "start": 110, "end": 116}, "tail": {"text": "CFD", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "Renal ischemia/reperfusion, however, can function as a third hit, triggering rapid cyst development in kidneys with Pkd1 inactivation induced in adult life.", "output": {"entities": {"gene": [{"text": "Pkd1", "start": 116, "end": 120}], "disease": [{"text": "hit", "start": 61, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We propose endogenous TNFalpha as a key player in cancer-related heat hyperalgesia and nociceptor sensitization that generates TRPV1 upregulation and sensitization via TNFR2.", "output": {"entities": {"gene": [{"text": "TNFalpha", "start": 22, "end": 30}], "disease": [{"text": "hyperalgesia", "start": 70, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFalpha", "start": 22, "end": 30}, "tail": {"text": "hyperalgesia", "start": 70, "end": 82}}]}}, "schema": []}
{"input": "We also performed scanning for coronary artery calcification (CAC) in 1018 of these individuals.", "output": {"entities": {"gene": [{"text": "CAC", "start": 62, "end": 65}], "disease": [{"text": "coronary artery calcification", "start": 31, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Western blot and real-time PCR results indicated that the expression of heparanase and VEGF was increased under hypoxic conditions, and the increase of VEGF was inhibited by PI-88.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 72, "end": 82}], "disease": [{"text": "hypoxic", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Thus, DNMT3A joins an emerging group of epigenetic DNA-and histone-modifying genes associated with both developmental growth disorders and hematological malignancies.", "output": {"entities": {"gene": [{"text": "DNMT3A", "start": 6, "end": 12}], "disease": [{"text": "growth disorders", "start": 118, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT3A", "start": 6, "end": 12}, "tail": {"text": "growth disorders", "start": 118, "end": 134}}]}}, "schema": []}
{"input": "To investigate whether peptidyl arginine deiminase type IV gene (PADI4) polymorphisms contribute to rheumatoid arthritis (RA) susceptibility in Egyptians, whether they influence disease severity and activity, and whether they affect anti-mutated citrullinated vimentin antibodies (anti-MCV) level.", "output": {"entities": {"gene": [{"text": "IV gene", "start": 56, "end": 63}], "disease": [{"text": "arthritis", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The objective of the study was to assess the association of a family history (FH) of premature coronary heart disease (CHD) with coronary artery calcification (CAC) in asymptomatic individuals and to compare the effects of sibling or parental FH on the risk of subclinical atherosclerosis.", "output": {"entities": {"gene": [{"text": "CAC", "start": 160, "end": 163}], "disease": [{"text": "coronary artery calcification", "start": 129, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "To determine whether changes in GABA activity played a role in decreased hypersensitivity after SCI and p65/p50 targeted decoy, we counted gamma-aminobutyric acid (GABA)-containing neurons in laminae 1-3.", "output": {"entities": {"gene": [{"text": "p50", "start": 108, "end": 111}], "disease": [{"text": "hypersensitivity", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Genetic ablation of miR-145 in hypoxic mice led to improved hemodynamic and vascular remodeling parameters.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 20, "end": 27}], "disease": [{"text": "vascular remodeling", "start": 76, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The TGFB1 Ex5-73C > T variant was positively associated with TGCT (CT/TT versus CC: odds ratio, 1. 73; 95% confidence interval, 1. 01-2. 95; P (trend) = 0. 05); additionally, haplotypes of the assessed TGFB1 SNPs (-509C > T, 327C > T, Ex1-282C > G, and Ex5-73C > T) differed in frequency between cases and controls (all TGCT, P 0. 07; seminoma, P 0. 04; nonseminoma, P 0. 11).", "output": {"entities": {"gene": [{"text": "Ex1", "start": 235, "end": 238}], "disease": [{"text": "nonseminoma", "start": 354, "end": 365}]}, "relations": {}}, "schema": []}
{"input": "Additionally, increased MCP-1 in both intact L4 and injured L5 DRG neurons may contribute to neuropathic pain hypersensitivity following L5 SNL.", "output": {"entities": {"gene": [{"text": "SNL", "start": 140, "end": 143}], "disease": [{"text": "hypersensitivity", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Differential regulation of the response to DNA damage in Ewing' s sarcoma cells by ETS1 and EWS/FLI-1.", "output": {"entities": {"gene": [{"text": "ETS1", "start": 83, "end": 87}], "disease": [{"text": "sarcoma", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our results revealed that, in addition to the enhancement of Fas-L expression, PEDF increased the sensitivity of A549 and Calu-3 cells to Fas-L-mediated apoptosis by triggering the translocation of Fas protein to the plasma membrane in a p53-and FAP-1-dependent manner.", "output": {"entities": {"gene": [{"text": "Calu", "start": 122, "end": 126}], "disease": [{"text": "translocation", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In studies to elucidate the mechanism by which ATRA alters Rb2/p130 stability in ovarian cancer cells, it was determined that PP2A, a serine/threonine phosphatase, binds and dephosphorylates Rb2/p130.", "output": {"entities": {"gene": [{"text": "Rb2/p130", "start": 59, "end": 67}], "disease": [{"text": "ovarian cancer", "start": 81, "end": 95}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Rb2/p130", "start": 59, "end": 67}, "tail": {"text": "ovarian cancer", "start": 81, "end": 95}}]}}, "schema": []}
{"input": "The AG + AA genotypes of CTLA-4/rs3087243 statistically and antagonistically interacted with soybeans, pork and alcohol intake and were associated with CRC risk.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 25, "end": 31}], "disease": [{"text": "alcohol intake", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "High expression of GCLC is associated with malignant melanoma of low oxidative phenotype and predicts a better prognosis.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 19, "end": 23}], "disease": [{"text": "malignant melanoma", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "TRAIL expression and infiltration by CD11c + cells was abundant in perilesional vitiligo skin.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 0, "end": 5}], "disease": [{"text": "vitiligo", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.", "output": {"entities": {"gene": [{"text": "caveolin-1", "start": 116, "end": 126}], "disease": [{"text": "OCa", "start": 167, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "caveolin-1", "start": 116, "end": 126}, "tail": {"text": "OCa", "start": 167, "end": 170}}]}}, "schema": []}
{"input": "In conclusion, STAT5b activation enhanced HCC aggressiveness by induction of EMT, which was possibly mediated by HBX activation.", "output": {"entities": {"gene": [{"text": "HCC", "start": 42, "end": 45}], "disease": [{"text": "aggressiveness", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that SP and its cognate receptor NK-1 (SP/NK1-R) signaling modulates the basal phosphorylation of HER2 and EGFR in BC, increasing aggressiveness and drug resistance.", "output": {"entities": {"gene": [{"text": "HER2", "start": 119, "end": 123}], "disease": [{"text": "aggressiveness", "start": 151, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In light of these observations, we propose that ischemia-reperfusion and oxidant stress, in vivo, may be simulated by anoxia-hyperoxia induced stress in vitro, and that this stress may act as a stimulus for the production of IL-8.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 225, "end": 229}], "disease": [{"text": "hyperoxia", "start": 125, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "C-fos expression after icv CRF has been considered a useful tool in mapping areas involved in stress and in seizure activity.", "output": {"entities": {"gene": [{"text": "CRF", "start": 27, "end": 30}], "disease": [{"text": "seizure", "start": 108, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 27, "end": 30}, "tail": {"text": "seizure", "start": 108, "end": 115}}]}}, "schema": []}
{"input": "In the present study we have examined the MATA1 gene of eight hypermethioninemic individuals, including the two with demyelination of the brain.", "output": {"entities": {"gene": [{"text": "MATA1", "start": 42, "end": 47}], "disease": [{"text": "demyelination", "start": 117, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MATA1", "start": 42, "end": 47}, "tail": {"text": "demyelination", "start": 117, "end": 130}}]}}, "schema": []}
{"input": "METHODS: C57BL/6 oxygen-induced retinopathy (OIR) mice and human retinal microvascular endothelial cells (HRECs) were treated with the hypoxia mimetic agent cobalt chloride (CoCl₂), and in the presence of the heparanase inhibitor phosphomannopentaose sulfate (Muparfostat, PI-88).", "output": {"entities": {"gene": [{"text": "heparanase", "start": 209, "end": 219}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.", "output": {"entities": {"gene": [{"text": "SKI", "start": 48, "end": 51}], "disease": [{"text": "Shprintzen-Goldberg syndrome", "start": 113, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SKI", "start": 48, "end": 51}, "tail": {"text": "Shprintzen-Goldberg syndrome", "start": 113, "end": 141}}]}}, "schema": []}
{"input": "The SPRY4 intronic transcript 1 (SPRY4-IT1) is a 708-bp lncRNA on chromosome 5 with a potential functional role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 33, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "In PC-3 xenografts in vivo the dl1102 mutant significantly prolongs time to tumor progression that is further enhanced in combination with docetaxel.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 3, "end": 7}], "disease": [{"text": "tumor progression", "start": 76, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Functional evaluation of the autoimmunity-associated CTLA4 gene: the effect of the (AT) repeat in the 3' untranslated region (UTR).", "output": {"entities": {"gene": [{"text": "UTR", "start": 126, "end": 129}], "disease": [{"text": "autoimmunity", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Pathways that have emerged as having critical roles in both cancer and neurodegenerative disease include those involving genes such as PARK2, ATM, PTEN, PTPRD, and mTOR.", "output": {"entities": {"gene": [{"text": "PTPRD", "start": 153, "end": 158}], "disease": [{"text": "neurodegenerative disease", "start": 71, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Human tumor necrosis factor receptor (p55) and interleukin 10 gene transfer in the mouse reduces mortality to lethal endotoxemia and also attenuates local inflammatory responses.", "output": {"entities": {"gene": [{"text": "p55", "start": 38, "end": 41}], "disease": [{"text": "endotoxemia", "start": 117, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis.", "output": {"entities": {"gene": [{"text": "PRD", "start": 36, "end": 39}], "disease": [{"text": "gliosis", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor (PPIF: previously known as cyclophilin 3) is a protein that is part of the mitochondrial permeability transition pore, the activation of which is involved in the induction of necrotic and apoptotic cell death.", "output": {"entities": {"gene": [{"text": "cyclophilin 3", "start": 92, "end": 105}], "disease": [{"text": "necrotic", "start": 240, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we established that this polymorphism is located at position-1024 relative to the ATG translation initiation codon, and investigated whether it confers a genetic predisposition to atopic conditions and the Th1 condition multiple sclerosis (MS) in Caucasian subjects.", "output": {"entities": {"gene": [{"text": "Th1", "start": 228, "end": 231}], "disease": [{"text": "atopic", "start": 202, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Menin' s interaction with mixed-lineage leukemia protein-containing histone methyl transferase (MLL-HMT) complex mediates tissue-selective tumor-suppressing and tumor-promoting effects of menin, and as such could be decisive for the predisposition of individual tissues to MEN1-associated tumorigenesis.", "output": {"entities": {"gene": [{"text": "MLL", "start": 96, "end": 99}], "disease": [{"text": "tumorigenesis", "start": 289, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "We explored the predictive significance of BRCA1, TXR1 and TSP1 expression in non-small-cell lung cancer (NSCLC) patients treated with docetaxel in association with cisplatin or gemcitabine.", "output": {"entities": {"gene": [{"text": "TXR1", "start": 50, "end": 54}], "disease": [{"text": "lung cancer", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.", "output": {"entities": {"gene": [{"text": "HSPA1A", "start": 277, "end": 283}], "disease": [{"text": "major depressive episode", "start": 123, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPA1A", "start": 277, "end": 283}, "tail": {"text": "major depressive episode", "start": 123, "end": 147}}]}}, "schema": []}
{"input": "Recombinant adenovirus Ad-AShcox-2 was constructed and transfected into human HCC cell lines SMMC7402 and SMMC7721, and its effects on COX-2 expression, cell apoptosis and cell cycle were analyzed by flow cytometry.", "output": {"entities": {"gene": [{"text": "HCC", "start": 78, "end": 81}], "disease": [{"text": "adenovirus", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Frequent inactivation of RAMP2, EFEMP1 and Dutt1 in lung cancer by promoter hypermethylation.", "output": {"entities": {"gene": [{"text": "EFEMP1", "start": 32, "end": 38}], "disease": [{"text": "lung cancer", "start": 52, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EFEMP1", "start": 32, "end": 38}, "tail": {"text": "lung cancer", "start": 52, "end": 63}}]}}, "schema": []}
{"input": "XNP mutation in a large family with Juberg-Marsidi syndrome.", "output": {"entities": {"gene": [{"text": "XNP", "start": 0, "end": 3}], "disease": [{"text": "Juberg-Marsidi syndrome", "start": 36, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XNP", "start": 0, "end": 3}, "tail": {"text": "Juberg-Marsidi syndrome", "start": 36, "end": 59}}]}}, "schema": []}
{"input": "The present study addressed expression of DBCCR1 in gliomas, specifically in astrocytomas, using semi-quantitative RT-PCR on 25 tumours of different malignancy grade and on 5 control brain tissue samples.", "output": {"entities": {"gene": [{"text": "DBCCR1", "start": 42, "end": 48}], "disease": [{"text": "gliomas", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The older patients demonstrated advanced foveal atrophy and punched-out foveal hypofluorescence with discrete borders on FAF imaging corresponding to the area of outer retinal cavitation on OCT. Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis.", "output": {"entities": {"gene": [{"text": "FAF", "start": 121, "end": 124}], "disease": [{"text": "foveal atrophy", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The FOXO3A rs2802292 G-allele associates with improved peripheral and hepatic insulin sensitivity and increased skeletal muscle-FOXO3A mRNA expression in twins.", "output": {"entities": {"gene": [{"text": "FOXO3A", "start": 4, "end": 10}], "disease": [{"text": "insulin sensitivity", "start": 78, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.", "output": {"entities": {"gene": [{"text": "COL6A3", "start": 52, "end": 58}], "disease": [{"text": "Bethlem myopathy", "start": 111, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL6A3", "start": 52, "end": 58}, "tail": {"text": "Bethlem myopathy", "start": 111, "end": 127}}]}}, "schema": []}
{"input": "Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.", "output": {"entities": {"gene": [{"text": "ASXL3", "start": 325, "end": 330}], "disease": [{"text": "pancreatic cancer", "start": 276, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Univariate analysis showed no significant association of gelatinase A and matrilysin mRNAs with the classical prognostic markers (age, menopausal status, stage, size, nodal status, vascular infiltrate, necrosis, steroid receptors, metastasis and survival).", "output": {"entities": {"gene": [{"text": "gelatinase A", "start": 57, "end": 69}], "disease": [{"text": "necrosis", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Resveratrol attenuates angiotensin II-induced interleukin-6 expression and perivascular fibrosis.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 23, "end": 37}], "disease": [{"text": "fibrosis", "start": 88, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 23, "end": 37}, "tail": {"text": "fibrosis", "start": 88, "end": 96}}]}}, "schema": []}
{"input": "The antibody titer against AnxA2 may be a potentially useful new diagnostic surrogate marker for asbestos-related lung cancer and malignant mesothelioma.", "output": {"entities": {"gene": [{"text": "AnxA2", "start": 27, "end": 32}], "disease": [{"text": "lung cancer", "start": 114, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AnxA2", "start": 27, "end": 32}, "tail": {"text": "lung cancer", "start": 114, "end": 125}}]}}, "schema": []}
{"input": "These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice.", "output": {"entities": {"gene": [{"text": "Wnt4", "start": 31, "end": 35}], "disease": [{"text": "dwarfism", "start": 60, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Wnt4", "start": 31, "end": 35}, "tail": {"text": "dwarfism", "start": 60, "end": 68}}]}}, "schema": []}
{"input": "We found that the combination of both a vaccine consisting of 4-1BBL-expressing RM-1 cells and CTLA-4 blockade resulted in regression of RM-1 tumors and a significant increase in survival of the tumour cell recipients, compared to that of either treatment alone.", "output": {"entities": {"gene": [{"text": "4-1BBL", "start": 62, "end": 68}], "disease": [{"text": "regression", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "When the expression of RasGRF1 was down-regulated in ARMS cells by an shRNA strategy, these RasGRF1-kd RMS cells did not respond to stimulation by SDF-1, HGF/SF, Igf-2 or insulin by phosphorylation of p42/44 MAPK and AKT and lost their chemotactic responsiveness; however, their adhesion was not affected.", "output": {"entities": {"gene": [{"text": "AKT", "start": 217, "end": 220}], "disease": [{"text": "adhesion", "start": 279, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma.", "output": {"entities": {"gene": [{"text": "TLS", "start": 177, "end": 180}], "disease": [{"text": "lipoma", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Our results define the extent of allelic heterogeneity and the types (41% missense; 59% truncating) and distribution (35% in exons 10, 12, 14) of HMBS mutations, for AIP in the United Kingdom.", "output": {"entities": {"gene": [{"text": "HMBS", "start": 146, "end": 150}], "disease": [{"text": "AIP", "start": 166, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HMBS", "start": 146, "end": 150}, "tail": {"text": "AIP", "start": 166, "end": 169}}]}}, "schema": []}
{"input": "Physicians should be aware of the association between interferon-alpha 2a and ribavirin use for hepatitis C infection and the development of Harada disease.", "output": {"entities": {"gene": [{"text": "interferon-alpha 2a", "start": 54, "end": 73}], "disease": [{"text": "Harada disease", "start": 141, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interferon-alpha 2a", "start": 54, "end": 73}, "tail": {"text": "Harada disease", "start": 141, "end": 155}}]}}, "schema": []}
{"input": "Severity of CD18 (hypo) PL/J psoriasiform dermatitis correlated with a loss of skin-resident Vγ5 (+) T cells and concurrent skin infiltration with IL-17 (+), IL-22 (+), and TNF-α (+) γδTCR (low) cells preceded by increases in Vγ4 (+) T cells in local lymph nodes.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 158, "end": 163}], "disease": [{"text": "psoriasiform dermatitis", "start": 29, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In order to examine the sensitivity of learning and memory to circadian disruption, we altered normal lighting phases by an 8 h shortening of the dark period every 3 days (jet lag) in the APPSwDI NOS2-/-model of AD (AD-Tg) at a young age (4-5 months), when memory is not yet affected compared to non-transgenic (non-Tg) mice.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 196, "end": 200}], "disease": [{"text": "jet lag", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We isolated and characterized an HUCB-derived population of progenitors (HUCBNP), differentiated toward neuronal phenotype by human neuroblastoma-conditioning medium (CM) and nerve growth factor (NGF), which have been found to confer neuroprotection toward hypoxia-mediated neuronal injury.", "output": {"entities": {"gene": [{"text": "NGF", "start": 196, "end": 199}], "disease": [{"text": "hypoxia", "start": 257, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t (8; 22) (q24. 13; q11. 21) in a young girl with dysgerminoma.", "output": {"entities": {"gene": [{"text": "RNF139", "start": 31, "end": 37}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our study revealed a critical role of SHP and REV-ERB & #945; in controlling rhythmic CHOP expression in alcoholic fatty liver.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 86, "end": 90}], "disease": [{"text": "fatty liver", "start": 115, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHOP", "start": 86, "end": 90}, "tail": {"text": "fatty liver", "start": 115, "end": 126}}]}}, "schema": []}
{"input": "miR-21/DDAH1 pathway regulates pulmonary vascular responses to hypoxia.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "LOH at 8p21. 3-p22 was observed mainly from the invasive SCC and metastatic carcinoma.", "output": {"entities": {"gene": [{"text": "p22", "start": 15, "end": 18}], "disease": [{"text": "metastatic carcinoma", "start": 65, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A--> C, K751Q), XPG (exon 15 G--> C, D1104H), XPC (exon 15 A--> C, K939Q), XRCC1 (exon 10 G--> A, R399Q) and XRCC3 (exon 7 C--> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 220, "end": 225}], "disease": [{"text": "chromosomal aberrations", "start": 268, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "Arsenic-related BCCs express p53 less often and at a lower intensity than sporadic BCCs (P =. 001; 2-tailed test).", "output": {"entities": {"gene": [{"text": "p53", "start": 29, "end": 32}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "To compare the copy number intensities of genes associated with GAD67 regulation in the stratum oriens of sectors CA3/2 and CA1 in patients with schizophrenia, patients with bipolar disorder, and healthy controls.", "output": {"entities": {"gene": [{"text": "CA3", "start": 114, "end": 117}], "disease": [{"text": "schizophrenia", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Inactivating mutations of the FSH receptor (FSHR) are known to cause ovarian failure with amenorrhea and infertility in women.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 44, "end": 48}], "disease": [{"text": "infertility", "start": 105, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to detect and characterize the choline transporter-like 1 (CTL1/SLC44A1) protein in CNS tissues and the hybrid neuroblastoma x glioma cell line NG108-15, which synthesizes acetylcholine and has high affinity choline transport but does not express the cholinergic high affinity choline transporter 1.", "output": {"entities": {"gene": [{"text": "choline transporter", "start": 57, "end": 76}], "disease": [{"text": "neuroblastoma", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that Purkinje cell loss and astrocytosis in FAD in the cerebellum are greater than in SAD, indicating that the cerebellum is more affected in FAD than in SAD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 68, "end": 71}], "disease": [{"text": "astrocytosis", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D.", "output": {"entities": {"gene": [{"text": "GUCY2D", "start": 219, "end": 225}], "disease": [{"text": "LCA", "start": 207, "end": 210}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GUCY2D", "start": 219, "end": 225}, "tail": {"text": "LCA", "start": 207, "end": 210}}]}}, "schema": []}
{"input": "High-molecular-weight DNAs from 43 human primary tumor tissues were examined by Southern blot hybridization for possible rearrangement and/or amplification of the following protooncogenes: the c-myc, c-erbB-1, N-myc, c-mos and c-fos genes.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 210, "end": 215}], "disease": [{"text": "weight", "start": 15, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "90% of reattenders fulfilled European Spondyloarthropathy Study Group criteria; 73. 5% showed MRI inflammation despite clinical improvement (median BASDAI 5. 65 to 3. 05; p < 0. 009).", "output": {"entities": {"gene": [{"text": "MRI", "start": 94, "end": 97}], "disease": [{"text": "inflammation", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that a screening for the g727t, R170X, and R83H mutations by simple DNA-based diagnostic methods can detect 95% of the G6Pase mutant alleles in Japanese patients with GSD-Ia, and remaining mutations can be identified and characterized by the direct sequencing of genomic DNA and/or the analysis of ectopically expressed mRNA.", "output": {"entities": {"gene": [{"text": "G6Pase", "start": 140, "end": 146}], "disease": [{"text": "GSD-Ia", "start": 188, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "G6Pase", "start": 140, "end": 146}, "tail": {"text": "GSD-Ia", "start": 188, "end": 194}}]}}, "schema": []}
{"input": "In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.", "output": {"entities": {"gene": [{"text": "LHRH", "start": 53, "end": 57}], "disease": [{"text": "hypertension", "start": 84, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LHRH", "start": 53, "end": 57}, "tail": {"text": "hypertension", "start": 84, "end": 96}}]}}, "schema": []}
{"input": "T-cell immunoglobulin-and mucin-domain-containing molecule 3 (TIM-3) has been established as a negative regulatory molecule that plays a critical role in controlling inflammation.", "output": {"entities": {"gene": [{"text": "TIM-3", "start": 62, "end": 67}], "disease": [{"text": "inflammation", "start": 166, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these results suggest that insulin resistance is responsible for GRK4 overexpression and GRK2 translocation leading to hyperphosphorylation of D (1A) receptors and their uncoupling from G (s) proteins as rosiglitazone treatment corrects these defects in OZRs.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 103, "end": 107}], "disease": [{"text": "translocation", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Loss of these two tumor suppressors is a frequent event in endometrial tumorigenesis, and ZFHX3 defects are associated with poor outcome.", "output": {"entities": {"gene": [{"text": "ZFHX3", "start": 90, "end": 95}], "disease": [{"text": "tumorigenesis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Amongst 489 X-ALD families tested at Kennedy Krieger Institute, we identified 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line and supporting a new mutation rate of at least 4. 1% for this group.", "output": {"entities": {"gene": [{"text": "ABCD1", "start": 100, "end": 105}], "disease": [{"text": "X-ALD", "start": 12, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCD1", "start": 100, "end": 105}, "tail": {"text": "X-ALD", "start": 12, "end": 17}}]}}, "schema": []}
{"input": "The novel mutation identified in TPM1 is associated with the clinical features of cardiac hypertrophy in all but one genetically affected member of this large family.", "output": {"entities": {"gene": [{"text": "TPM1", "start": 33, "end": 37}], "disease": [{"text": "cardiac hypertrophy", "start": 82, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Four SNPs of the FUT2 gene (rs281377, rs1047781, rs601338, and rs602662) from 1200 non-cancer controls and 700 oral squamous cell carcinoma (OSCC) patients were analyzed by real-time polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "FUT2 gene", "start": 17, "end": 26}], "disease": [{"text": "squamous cell carcinoma", "start": 116, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Together, these results strongly implicate a new c-Src-dependent link between CHKA and EGFR, which contributes to the regulation of cell proliferation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "CHKA", "start": 78, "end": 82}], "disease": [{"text": "tumorigenesis", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In TP53wt patients with high or intermediate risk cytogenetic aberrations, the MDM2 (SNP309) conferred an impaired outcome, with patients carrying the alternative G-allele having shorter OS compared with T/T patients (median 9 vs. 50 months, P = 0. 020).", "output": {"entities": {"gene": [{"text": "MDM2", "start": 79, "end": 83}], "disease": [{"text": "cytogenetic aberrations", "start": 50, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in the fusion of the transcription factor TFE3 to one of several different fusion partners including PRCC, PSF, NONO, ASPL or CTLC with consecutive overexpression of the chimeric protein.", "output": {"entities": {"gene": [{"text": "PSF", "start": 133, "end": 136}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.", "output": {"entities": {"gene": [{"text": "NDUFA11", "start": 59, "end": 66}], "disease": [{"text": "Mitochondrial complex I deficiency", "start": 0, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDUFA11", "start": 59, "end": 66}, "tail": {"text": "Mitochondrial complex I deficiency", "start": 0, "end": 34}}]}}, "schema": []}
{"input": "Eighteen of these tumors were from eight patients with known MSH2 germline mutations, two tumors were from a patient with a germline mutation in MLH1, and eight microsatellite stable sporadic skin tumors served as controls.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 61, "end": 65}], "disease": [{"text": "sporadic", "start": 183, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "A \" three-pronged \" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome.", "output": {"entities": {"gene": [{"text": "SAP/SH2D1A", "start": 46, "end": 56}], "disease": [{"text": "XLP", "start": 107, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAP/SH2D1A", "start": 46, "end": 56}, "tail": {"text": "XLP", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "The ic-STZ-injected rats did not have elevated blood glucose levels, and pancreatic architecture and insulin immunoreactivity were similar to control, yet their brains were reduced in size and exhibited neurodegeneration associated with cell loss, gliosis, and increased immunoreactivity for p53, active glycogen synthase kinase 3beta, phospho-tau, ubiquitin, and amyloid-beta.", "output": {"entities": {"gene": [{"text": "p53", "start": 292, "end": 295}], "disease": [{"text": "neurodegeneration", "start": 203, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "The ERCC1 (excision repair cross complementation group 1) and ERCC2 (excision repair cross complementation group 2) genes are important in repairing DNA damage and genomic instability in germ cells, and are essential for normal spermatogenesis.", "output": {"entities": {"gene": [{"text": "ERCC2", "start": 62, "end": 67}], "disease": [{"text": "genomic instability", "start": 164, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Differential regulation of IRS1 and IRS2 and of their downstream effectors AKT1 and AKT2 is consistent with upregulation of FOXO1 and may justify the paradoxical state of insulin resistance relative to the glucoregulatory pathway and augmented insulin sensitivity of the liporegulatory pathway typical of steatosis and the metabolic syndrome in obese patients.", "output": {"entities": {"gene": [{"text": "FOXO1", "start": 124, "end": 129}], "disease": [{"text": "insulin sensitivity", "start": 244, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "In 40 unrelated patients presenting with MODY5 phenotype, TCF2 was screened for mutations by sequencing.", "output": {"entities": {"gene": [{"text": "TCF2", "start": 58, "end": 62}], "disease": [{"text": "MODY5", "start": 41, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF2", "start": 58, "end": 62}, "tail": {"text": "MODY5", "start": 41, "end": 46}}]}}, "schema": []}
{"input": "Investigation of the candidate genes for proteinuria in adults from the general population provided support for a region on chromosome 15 near RSL24D1/UNC13C/RAB27A.", "output": {"entities": {"gene": [{"text": "RAB27A", "start": 158, "end": 164}], "disease": [{"text": "proteinuria", "start": 41, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We have shown, using the Cre/loxP system, that cardiac-specific disruption of SRF gene in the embryonic heart results in lethal cardiac defects.", "output": {"entities": {"gene": [{"text": "SRF gene", "start": 78, "end": 86}], "disease": [{"text": "cardiac defects", "start": 128, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "ST7 suppressed growth of PC-3 prostate cancer cells inoculated subcutaneously into severe combined immunodeficient mice, and increased the latency of tumor detection from 13 days in control tumors to 23 days.", "output": {"entities": {"gene": [{"text": "ST7", "start": 0, "end": 3}], "disease": [{"text": "prostate cancer", "start": 30, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The activation of FGFR3 might be a common feature in the tumorigenesis in seborrhoeic keratosis, although the activation does not induce a typical oncogenic signal in keratinocytes.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 18, "end": 23}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "It is flanked by two genes ASZ1 [ankyrin repeat, SAM (sterile alpha-motif) and basic leucine zipper] and CTTNBP2 (cortactin-binding protein 2), which have very different expression profiles.", "output": {"entities": {"gene": [{"text": "cortactin-binding protein 2", "start": 114, "end": 141}], "disease": [{"text": "sterile", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-& #946; signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.", "output": {"entities": {"gene": [{"text": "SKI", "start": 24, "end": 27}], "disease": [{"text": "SGS", "start": 181, "end": 184}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SKI", "start": 24, "end": 27}, "tail": {"text": "SGS", "start": 181, "end": 184}}]}}, "schema": []}
{"input": "These results reinforce the notion that mutations in the XDH gene are the underlying cause of classical xanthinuria type I.", "output": {"entities": {"gene": [{"text": "XDH", "start": 57, "end": 60}], "disease": [{"text": "classical xanthinuria type I", "start": 94, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XDH", "start": 57, "end": 60}, "tail": {"text": "classical xanthinuria type I", "start": 94, "end": 122}}]}}, "schema": []}
{"input": "Young (15-28) and aged (61-77) HDF were heat pre-conditioned (42 degrees C, 1 h) and after recovery (1, 2, or 20 h) treated with carbonyl-cyanide-m-chlorophenylhydrazone (hypoxic stress) or with hydrogen peroxide (oxidative stress) for 1 h. HSP70 levels were determined by Western blot.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 241, "end": 246}], "disease": [{"text": "hypoxic", "start": 171, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Here we describe the genomic structure of SLC7A9 (13 exons) and 28 new mutations in this gene that, together with the seven previously reported, explain 79% of the alleles in 61 non-Type I cystinuria patients.", "output": {"entities": {"gene": [{"text": "SLC7A9", "start": 42, "end": 48}], "disease": [{"text": "cystinuria", "start": 189, "end": 199}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC7A9", "start": 42, "end": 48}, "tail": {"text": "cystinuria", "start": 189, "end": 199}}]}}, "schema": []}
{"input": "For type II cancer, positive associations were due to supplemental, rather than dietary, intake of these nutrients: supplemental folate (RR = 1. 80 for > 228. 6 versus 0 μg/day; P trend = 0. 027) and vitamins B2 (RR = 1. 94 for > 1. 70 versus 0 mg/day; P trend = 0. 011), B6 (RR = 2. 08 for > 2. 00 versus 0 mg/day; P trend = 0. 012), and B12 (RR = 2. 10 for > 3. 43 versus 0 μg/day; P trend = 0. 0060).", "output": {"entities": {"gene": [{"text": "B12", "start": 339, "end": 342}], "disease": [{"text": "cancer", "start": 12, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "ACAT inhibitors cannot only prevent atherosclerosis formation, but may also induce its regression in animals.", "output": {"entities": {"gene": [{"text": "ACAT", "start": 0, "end": 4}], "disease": [{"text": "regression", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Synaptic depression via mGluR1 positive allosteric modulation suppresses cue-induced cocaine craving.", "output": {"entities": {"gene": [{"text": "mGluR1", "start": 24, "end": 30}], "disease": [{"text": "depression", "start": 9, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR1", "start": 24, "end": 30}, "tail": {"text": "depression", "start": 9, "end": 19}}]}}, "schema": []}
{"input": "Single nucleotide polymorphisms (SNPs) in IL6, IFNG, IL1B, and IL1RN were genotyped in the Lung Health Study and correlated with rate of decline of forced expiratory volume in 1 second (FEV (1)) over 5 years, baseline FEV (1), serum protein levels, cardiovascular disease, and interactions with smoking.", "output": {"entities": {"gene": [{"text": "IL6", "start": 42, "end": 45}], "disease": [{"text": "smoking", "start": 295, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "The HGF-messenger RNA (mRNA) level in the liver rose in the fulminant hepatitis phase, fell in the chronic hepatitis phase, and was intermediate or high during the hepatoma phase.", "output": {"entities": {"gene": [{"text": "HGF", "start": 4, "end": 7}], "disease": [{"text": "fulminant hepatitis", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Methylated DNA bases are removed by base excision repair initiated by the alkyladenine-DNA glycosylase, the family of AlkB homologs proteins, and the suicide enzyme O (6)-methylguanine-DNA methyltransferase (MGMT), which is the main focus of this review.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 208, "end": 212}], "disease": [{"text": "suicide", "start": 150, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family.", "output": {"entities": {"gene": [{"text": "TARDBP", "start": 53, "end": 59}], "disease": [{"text": "anarthria", "start": 29, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "To determine the effect of pigment epithelium-derived factor (PEDF) in a mouse model of ischemia-induced retinal neovascularization and on vascular endothelial growth factor (VEGF)--induced migration and growth of cultured microvascular endothelial cells.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 62, "end": 66}], "disease": [{"text": "retinal neovascularization", "start": 105, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Eighty-two Caucasian males grouped into normozoospermic healthy controls (n = 30) and infertile OAT males (n = 52).", "output": {"entities": {"gene": [{"text": "OAT", "start": 96, "end": 99}], "disease": [{"text": "infertile", "start": 86, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 23, "end": 27}], "disease": [{"text": "Lynch syndrome", "start": 51, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLH1", "start": 23, "end": 27}, "tail": {"text": "Lynch syndrome", "start": 51, "end": 65}}]}}, "schema": []}
{"input": "We also identified six genes driving malignant tumor progression and a new human CRC tumor-suppressor gene, ZNF292, that might also function in other types of cancer.", "output": {"entities": {"gene": [{"text": "ZNF292", "start": 108, "end": 114}], "disease": [{"text": "CRC", "start": 81, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF292", "start": 108, "end": 114}, "tail": {"text": "CRC", "start": 81, "end": 84}}]}}, "schema": []}
{"input": "Activation of the human FP prostanoid receptor disrupts mitosis progression and generates aneuploidy and polyploidy.", "output": {"entities": {"gene": [{"text": "FP prostanoid receptor", "start": 24, "end": 46}], "disease": [{"text": "aneuploidy", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Glycosylphosphatidylinositol-specific phospholipase D is expressed by macrophages in human atherosclerosis and colocalizes with oxidation epitopes.", "output": {"entities": {"gene": [{"text": "Glycosylphosphatidylinositol-specific phospholipase D", "start": 0, "end": 53}], "disease": [{"text": "atherosclerosis", "start": 91, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These breaks activate the G2/M checkpoint protein, Chk1, and induce near-tetraploid aneuploidy, commonly observed in human cancer, consequently elevating the transformation frequency.", "output": {"entities": {"gene": [{"text": "Chk1", "start": 51, "end": 55}], "disease": [{"text": "aneuploidy", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In this sample of healthy families, plasma levels of IL-6 and TNF-alpha were differently affected by biological parameters including age, gender and smoking, and the impact of their respective polymorphisms was influenced by gender, age and BMI.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 62, "end": 71}], "disease": [{"text": "smoking", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "However, whether PKR is involved in the progress of periodontitis is not clear.", "output": {"entities": {"gene": [{"text": "PKR", "start": 17, "end": 20}], "disease": [{"text": "periodontitis", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Therefore, using the sensitive and quantitative ACB-PCR approach, we quantified KRAS codon 12 GGT → GAT and GGT → GTT mutant fraction (MF) in 20 normal thyroid tissues, 17 primary PTC, 2 metastatic PTC, and 1 anaplastic thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "GGT", "start": 94, "end": 97}], "disease": [{"text": "anaplastic thyroid carcinoma", "start": 209, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death.", "output": {"entities": {"gene": [{"text": "CACNA1E", "start": 67, "end": 74}], "disease": [{"text": "congenital contractures", "start": 234, "end": 257}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNA1E", "start": 67, "end": 74}, "tail": {"text": "congenital contractures", "start": 234, "end": 257}}]}}, "schema": []}
{"input": "Patients with autoimmune diabetes showed a clinical phenotype significantly different from that of type 2 diabetes, including higher fasting glucose and A1C, lower BMI and uric acid, lower prevalence of metabolic syndrome and its components, and higher frequency of TPO antibodies.", "output": {"entities": {"gene": [{"text": "TPO", "start": 266, "end": 269}], "disease": [{"text": "metabolic syndrome", "start": 203, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "IL-6 was strongly associated with markers of inflammation (C-reactive protein, fibrinogen, white cell count); plasma viscosity; elevated markers of coagulation (fibrin D-dimer, FVIII, FIX); markers of endothelial dysfunction (von Willebrand factor, tissue plasminogen activator); and to a smaller extent with platelet count, APC ratio and gamma glutamyltransferase.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 177, "end": 182}], "disease": [{"text": "fibrinogen", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In addition, all of the adhesion molecules studied (ICAM-1, LFA-3, VLA-1, CD11a, CD11b, and CD11c) were detected on the cell surface.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 74, "end": 79}], "disease": [{"text": "adhesion", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The long-term restriction of BCAA intake in diets and orthotopic liver transplantation have proven effective in controlling plasma BCAA levels and mitigating some of the above neurological manifestations.", "output": {"entities": {"gene": [{"text": "BCAA", "start": 29, "end": 33}], "disease": [{"text": "neurological manifestations", "start": 176, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Three hundred and four severely obese patients (mean +/-SEM age, 42 +/-1 years; 245 women and 59 men; mean +/-SEM body mass index, 43. 9 +/-0. 3 kg/m2) followed prospectively for at least 3 years after surgery were genotyped for the GNB3 C825T, G814A, and GNAS1 T393 polymorphisms.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 256, "end": 261}], "disease": [{"text": "body mass index", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, the loss of Pdcd4 early in cancer progression may have an important role in the increased sensitivity of cancer cells to hypoxia through increased LOX activity and concomitant enhanced invasiveness.", "output": {"entities": {"gene": [{"text": "LOX", "start": 161, "end": 164}], "disease": [{"text": "hypoxia", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, exposure to hypoxia reduced CTGF synthesis in response to TGF-beta.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 41, "end": 45}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The transfection of constitutively active MEK1 or pretreatment with SB202190 (p38 MAPK inhibitor) abolished the caffeine effect on MKP-1 and PP2Acα expression.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 131, "end": 136}], "disease": [{"text": "caffeine", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that miR-221 may contribute to the development of the insulin resistance that typically accompanies obesity, by affecting PPAR signalling pathways and by directly downregulating ADIPOR1 and ETS1.", "output": {"entities": {"gene": [{"text": "ETS1", "start": 207, "end": 211}], "disease": [{"text": "obesity", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Tau gene mutation K257T causes a tauopathy similar to Pick' s disease.", "output": {"entities": {"gene": [{"text": "Tau", "start": 0, "end": 3}], "disease": [{"text": "Pick' s disease", "start": 54, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Tau", "start": 0, "end": 3}, "tail": {"text": "Pick' s disease", "start": 54, "end": 69}}]}}, "schema": []}
{"input": "Thirty-four SMAD3 gene mutation carriers coming to our centre were identified and 16 relatives were considered affected because of aortic surgery or sudden death (total 50 subjects).", "output": {"entities": {"gene": [{"text": "SMAD3 gene", "start": 12, "end": 22}], "disease": [{"text": "sudden death", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Hypoxic mice treated with miR-21 inhibitors and DDAH1 transgenic mice showed elevated lung DDAH1, increased cGMP levels and attenuated pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "DDAH1", "start": 48, "end": 53}], "disease": [{"text": "pulmonary hypertension", "start": 135, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The CD5 + B cell subset may be expanded in non organ-specific autoimmune diseases, such as rheumatoid arthritis, primary Sjögren' s syndrome, systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "CD5", "start": 4, "end": 7}], "disease": [{"text": "autoimmune diseases", "start": 62, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "NRG1, ERBB3, and NGFR show expression changes during the years of greatest risk for the development of schizophrenia.", "output": {"entities": {"gene": [{"text": "NGFR", "start": 17, "end": 21}], "disease": [{"text": "schizophrenia", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NGFR", "start": 17, "end": 21}, "tail": {"text": "schizophrenia", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "In conclusion, the high expressions of Nnat were found to be associated with good prognoses in neuroblastoma, which might indicate tumor differentiation, and its suppressions in unfavorable tumors are considered to be under epigenetic control.", "output": {"entities": {"gene": [{"text": "Nnat", "start": 39, "end": 43}], "disease": [{"text": "neuroblastoma", "start": 95, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nnat", "start": 39, "end": 43}, "tail": {"text": "neuroblastoma", "start": 95, "end": 108}}]}}, "schema": []}
{"input": "These results suggest that HOXB13 is a novel candidate tumor suppressor gene in RCC and that its inactivation may play an important role in both RCC tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 27, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene (SCN5A) encoding the alpha-subunit of the cardiac Na + channel cause congenital long QT syndrome (LQT-3).", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 23, "end": 28}], "disease": [{"text": "LQT-3", "start": 120, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 23, "end": 28}, "tail": {"text": "LQT-3", "start": 120, "end": 125}}]}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "DKK4", "start": 128, "end": 132}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DKK4", "start": 128, "end": 132}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Subsequent real-time PCR assays confirmed 16 of these targets, and 9 of these genes (ARHGAP29, CDC25A, CDKN2AIP, CX3CL1, ELF4, GNAL, KDELR1, POU4F2, and THRA) have a known role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "CDC25A", "start": 95, "end": 101}], "disease": [{"text": "tumorigenesis", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.", "output": {"entities": {"gene": [{"text": "luteinizing hormone/choriogonadotropin receptor", "start": 54, "end": 101}], "disease": [{"text": "male-limited precocious puberty", "start": 119, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone/choriogonadotropin receptor", "start": 54, "end": 101}, "tail": {"text": "male-limited precocious puberty", "start": 119, "end": 150}}]}}, "schema": []}
{"input": "Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice.", "output": {"entities": {"gene": [{"text": "vitamin D-binding protein", "start": 120, "end": 145}], "disease": [{"text": "lung tumor", "start": 220, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vitamin D-binding protein", "start": 120, "end": 145}, "tail": {"text": "lung tumor", "start": 220, "end": 230}}]}}, "schema": []}
{"input": "In PCOS patients, visceral HSD11B1 expression correlated positively with waist circumference (p = 0. 001), BMI (p = 0. 002), plasma insulin (p < 0. 05), systolic blood pressure (p = 0. 003), and lipoprotein lipase (LPL), hormone-sensitive lipase (LIPE) and peroxisome-proliferator activated receptor γ gene expression.", "output": {"entities": {"gene": [{"text": "HSD11B1", "start": 27, "end": 34}], "disease": [{"text": "systolic blood pressure", "start": 153, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "These data confirm a previously suggested role for ALCAM in the regulation of adherens junctions, and also suggest a mechanism by which ALCAM might differentially enhance or decrease invasiveness, depending on the type of cadherin adhesion complexes present in tissues surrounding the primary tumor, and on the cadherin status of the tumor cells themselves.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 51, "end": 56}], "disease": [{"text": "adhesion", "start": 231, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "We examined the association between mammographic density and single-nucleotide polymorphisms (SNPs) in genes encoding CYP1A1, CYP1B1, aromatase, 17beta-HSD, ESR1, and ESR2 in pre-and early perimenopausal white, African-American, Chinese, and Japanese women.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 126, "end": 132}], "disease": [{"text": "mammographic density", "start": 36, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.", "output": {"entities": {"gene": [{"text": "RLBP1", "start": 49, "end": 54}], "disease": [{"text": "fundus albipunctatus", "start": 75, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RLBP1", "start": 49, "end": 54}, "tail": {"text": "fundus albipunctatus", "start": 75, "end": 95}}]}}, "schema": []}
{"input": "UCP1-3826A/G and ADRB3 Trp64Arg polymorphisms may have a combined effect in the modulation of overweight/obesity and HDL-C levels in type 2 diabetes mellitus (T2DM) Caucasian-Brazilian patients.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 17, "end": 22}], "disease": [{"text": "overweight", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Patients with hemolysis, despite elevated plasma bilirubin levels, had mean BSP K (1) values similar to the normal subjects.", "output": {"entities": {"gene": [{"text": "BSP", "start": 76, "end": 79}], "disease": [{"text": "hemolysis", "start": 14, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "To study the effects of interleukin-10 (IL-10) on the expression of alpha-smooth muscle actin (alpha-SMA), nuclear factor-kappa B (NF-kappa B) and Fas/Fas ligand (FasL) in hepatic stellate cells of experimental rats with hepatic fibrosis.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 151, "end": 161}], "disease": [{"text": "hepatic fibrosis", "start": 221, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Similarly, a synthetic peptide mimicking the C-terminus of the fibrinogen γ' chain, which binds thrombin and inhibits its activities, greatly increased the APC sensitivity of normal and FV Leiden plasma, likely due to its ability to inhibit thrombin-mediated activation of FV and FVIII.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 280, "end": 285}], "disease": [{"text": "fibrinogen", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Sonograms of 233 breast masses, including 33 BRCA-associated malignant masses (BRCA1, 15; BRCA2, 18), 148 sporadic malignant masses, and 52 benign masses, were reviewed by consensus by 2 radiologists according to American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) terminology.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 90, "end": 95}], "disease": [{"text": "sporadic", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "However, multivariable Cox regression revealed that patients with higher than median PMP22 gene expression have a 3. 47 times higher risk to die of cancer compared to patients with equal values on clinical covariables but lower PMP22 expression.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 85, "end": 90}], "disease": [{"text": "regression", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 47, "end": 53}], "disease": [{"text": "infantile glaucoma", "start": 81, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP1B1", "start": 47, "end": 53}, "tail": {"text": "infantile glaucoma", "start": 81, "end": 99}}]}}, "schema": []}
{"input": "It is suggested that the phenotype of the patient was caused by activation of the deleted X chromosome with SRY translocation, which is responsible for gonadal differentiation.", "output": {"entities": {"gene": [{"text": "SRY", "start": 108, "end": 111}], "disease": [{"text": "translocation", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "TLR4 bone marrow chimeric mice revealed an equal contribution of TLR4 on nonparenchymal and parenchymal cells in the pathogenesis of PH as determined by measuring right ventricular (RV) systolic pressure and RV hypertrophy.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 0, "end": 4}], "disease": [{"text": "systolic pressure", "start": 186, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Association between an intronic apolipoprotein E polymorphism and bone mineral density in Singaporean Chinese females.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 32, "end": 48}], "disease": [{"text": "bone mineral density", "start": 66, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Third, using a statistical simulation method (miRHub) applied to the gene expression data, we identified candidate master miRNA regulators of pathways controlling cholesterol homeostasis in chronic viral hepatitis and HCC, including miR-21, miR-27, and miR-33.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 233, "end": 239}], "disease": [{"text": "chronic viral hepatitis", "start": 190, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "DDAH1, but not DDAH2, mRNA levels were reduced, whereas miR-21 levels were elevated in lung tissues from patients with pulmonary arterial hypertension and mice with pulmonary hypertension exposed to 2 weeks of hypoxia.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 56, "end": 62}], "disease": [{"text": "hypoxia", "start": 210, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The patient harboring the c. 249-1G > A mutation exhibited isolated growth hormone deficiency at diagnosis and a gradual loss of ACTH, whereas the patient with the p. V75I mutation exhibited multiple pituitary hormone deficiency.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 129, "end": 133}], "disease": [{"text": "pituitary hormone deficiency", "start": 200, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "A multi-insult rat model of ARF combining the application of contrast medium with nitric oxide synthase (NOS) and cyclooxygenase (COX) inhibition was used to study chronology and distribution of the oxygen regulated HIF isoforms HIF-1alpha and HIF-2alpha in comparison with the hypoxia-marker pimonidazole between 10 minutes and 48 hours after injury induction.", "output": {"entities": {"gene": [{"text": "COX", "start": 130, "end": 133}], "disease": [{"text": "hypoxia", "start": 278, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "We assessed the occurrence of several prothrombotic states (factor V Leiden, prothrombin G20210A, deficiencies in protein S, protein C and antithrombin, lupus anticoagulant, anticardiolipin antibodies, elevated factor VIII, resistance to activated protein C) and classical risk factors for venous thrombosis in 57 adult patients with cryptogenic stroke and patent foramen ovale and in 104 matched controls.", "output": {"entities": {"gene": [{"text": "protein C", "start": 125, "end": 134}], "disease": [{"text": "patent foramen ovale", "start": 357, "end": 377}]}, "relations": {}}, "schema": []}
{"input": "Our results show that fusion of the NUP98 and LEDGF genes is a new recurrent translocation in AML.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 36, "end": 41}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Rosiglitazone attenuates age-and diet-associated nonalcoholic steatohepatitis in male low-density lipoprotein receptor knockout mice.", "output": {"entities": {"gene": [{"text": "low-density lipoprotein receptor", "start": 86, "end": 118}], "disease": [{"text": "nonalcoholic steatohepatitis", "start": 49, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "low-density lipoprotein receptor", "start": 86, "end": 118}, "tail": {"text": "nonalcoholic steatohepatitis", "start": 49, "end": 77}}]}}, "schema": []}
{"input": "PXR is a key regulator of pregnancy induced glucuronidation capacity in addition to modulating the severity of neonatal jaundice.", "output": {"entities": {"gene": [{"text": "PXR", "start": 0, "end": 3}], "disease": [{"text": "neonatal jaundice", "start": 111, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PXR", "start": 0, "end": 3}, "tail": {"text": "neonatal jaundice", "start": 111, "end": 128}}]}}, "schema": []}
{"input": "As exemplified by the transcription factor signal transducer and activator of transcription 3 (STAT3), we show that a single gene can have a plethora of effects in various cell types of the gut.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 95, "end": 100}], "disease": [{"text": "plethora", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.", "output": {"entities": {"gene": [{"text": "glyceraldehyde-3-phosphate dehydrogenase", "start": 222, "end": 262}], "disease": [{"text": "ACS", "start": 504, "end": 507}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glyceraldehyde-3-phosphate dehydrogenase", "start": 222, "end": 262}, "tail": {"text": "ACS", "start": 504, "end": 507}}]}}, "schema": []}
{"input": "Transgenic mice (TG) with cardiac specific over-expression of Hsp27 and their wild type littermates (WT) were challenged with doxorubicin (25 mg/kg, IP) to induce HF.", "output": {"entities": {"gene": [{"text": "Hsp27", "start": 62, "end": 67}], "disease": [{"text": "HF", "start": 163, "end": 165}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Hsp27", "start": 62, "end": 67}, "tail": {"text": "HF", "start": 163, "end": 165}}]}}, "schema": []}
{"input": "Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD.", "output": {"entities": {"gene": [{"text": "MIM", "start": 177, "end": 180}], "disease": [{"text": "syndactyly", "start": 211, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The identified loss-of-function mutations in NFKBIA leading to protein truncation contributed to the altered NF-& #954; B activity, which is critical for NPC tumorigenesis.", "output": {"entities": {"gene": [{"text": "NFKBIA", "start": 45, "end": 51}], "disease": [{"text": "NPC", "start": 154, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NFKBIA", "start": 45, "end": 51}, "tail": {"text": "NPC", "start": 154, "end": 157}}]}}, "schema": []}
{"input": "In the present study, we have analyzed 16 MPNSTs, including 11 from patients with NF1 and 5 sporadic cases, for mutations in the coding sequence of the TP53 gene (exons 2-11).", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 152, "end": 161}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In this study, we detected cyclin D1 expression in esophageal carcinomas from southern China 61% and 35% cases showed increased expression of cyclin D1 in esophageal carcinomas and the adjacent epithelia, respectively.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 27, "end": 36}], "disease": [{"text": "esophageal", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Dual abnormalities of INI-1 loss and V600E BRAF mutation were identified in a cell culture line established from cerebrospinal fluid metastatic tumor cells.", "output": {"entities": {"gene": [{"text": "INI", "start": 22, "end": 25}], "disease": [{"text": "abnormalities", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "SST promoter hypermethylation is a common event in human esophageal carcinomas and is related to early neoplastic progression in Barrett esophagus.", "output": {"entities": {"gene": [{"text": "SST", "start": 0, "end": 3}], "disease": [{"text": "esophageal", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "One month after treatment, TTP patients showed a significant decrease in plasma TM levels, and a significant increase in plasma TFPI levels, but plasma levels of TF antigen were not significantly increased.", "output": {"entities": {"gene": [{"text": "TF", "start": 128, "end": 130}], "disease": [{"text": "TTP", "start": 27, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TF", "start": 128, "end": 130}, "tail": {"text": "TTP", "start": 27, "end": 30}}]}}, "schema": []}
{"input": "Thus, we hypothesize that as a major ligand for VEGFR1, placental growth factor (PLGF) may also play a role in the neovascularization and tumorigenesis of OH.", "output": {"entities": {"gene": [{"text": "PLGF", "start": 81, "end": 85}], "disease": [{"text": "tumorigenesis", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Activation of PPARγ by rosiglitazone significantly reduced the incidence and severity of lung metastasis in an orthotopic HCC mouse model.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 14, "end": 19}], "disease": [{"text": "lung metastasis", "start": 89, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "A significant positive correlation was found between 11β-HSD-1 expression in EA tissue and waist hip ratio and 11β-HSD-1 expression in AA tissue and body mass index, while a negative correlation was found between 11β-HSD-1 expression in EA tissue and HDL.", "output": {"entities": {"gene": [{"text": "HSD-1", "start": 57, "end": 62}], "disease": [{"text": "body mass index", "start": 149, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was investigated in terms of CVD risk using multivariable modelling with a well-characterised functional genetic polymorphism of THBS4 (A387P, rs1866389) along with previously demonstrated risk-related functional genetic polymorphisms of CYBA (C242T, rs4673) and CETP (TaqIB, rs708272), and a set of blood markers.", "output": {"entities": {"gene": [{"text": "CYBA", "start": 334, "end": 338}], "disease": [{"text": "inflammation", "start": 82, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to perform a case-control replication study in order to assess the possible association of childhood obesity and overweight with the above-mentioned ENPP1 SNPs, and with the QdelTG haplotype, in the Italian population.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 161, "end": 166}], "disease": [{"text": "overweight", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In cell lines from advanced lung cancer, breast cancer, and melanoma, endogenous tensin-3 contributes to cell migration, anchorage-independent growth, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "tensin", "start": 81, "end": 87}], "disease": [{"text": "lung cancer", "start": 28, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Here, we address whether or not intermittent hypoxia (IH) or restraint (R) or a combination of both (IH + R) during gestation would result in differential alteration of the HPA axis and behavior of the adult male offspring.", "output": {"entities": {"gene": [{"text": "HPA", "start": 173, "end": 176}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In one woman with ICP/DIC, a NR1H4 heterozygous variant (c.-1G & gt; T) was found.", "output": {"entities": {"gene": [{"text": "NR1H4", "start": 29, "end": 34}], "disease": [{"text": "ICP", "start": 18, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR1H4", "start": 29, "end": 34}, "tail": {"text": "ICP", "start": 18, "end": 21}}]}}, "schema": []}
{"input": "We performed mutational analysis of 20 exons from 9 genes (EGFR, CDKN2A, MET, KIT, RAS, BRAF, PI3KCA, HER-2 and PDGFR-alpha) on biopsy material from 25 patients who underwent primary surgery for uterine sarcoma between October 1995 and October 2003.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 88, "end": 92}], "disease": [{"text": "uterine sarcoma", "start": 195, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "The results showed that malignant mesenchymal chondroblasts exhibit stronger expressions of CD99, IL-1alpha, cPKC-alpha, p-PKC-alpha/betaII, PDGFR-alpha, p-JNK, Ki-67, and bcl-2 antigens than their more mature-appearing chondrocytic counterparts in MC.", "output": {"entities": {"gene": [{"text": "PDGFR-alpha", "start": 141, "end": 152}], "disease": [{"text": "MC", "start": 249, "end": 251}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGFR-alpha", "start": 141, "end": 152}, "tail": {"text": "MC", "start": 249, "end": 251}}]}}, "schema": []}
{"input": "We also found SRSF2, as well as another tau splicing factor, TRA2B, to be increased in brains of PSP patients.", "output": {"entities": {"gene": [{"text": "TRA2B", "start": 61, "end": 66}], "disease": [{"text": "PSP", "start": 97, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRA2B", "start": 61, "end": 66}, "tail": {"text": "PSP", "start": 97, "end": 100}}]}}, "schema": []}
{"input": "This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15.", "output": {"entities": {"gene": [{"text": "TBX15", "start": 131, "end": 136}], "disease": [{"text": "Cousin syndrome", "start": 31, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX15", "start": 131, "end": 136}, "tail": {"text": "Cousin syndrome", "start": 31, "end": 46}}]}}, "schema": []}
{"input": "At concentrations found at sites of allergic inflammation, PGD2 preferentially elicited the production of IL-4, IL-5, and IL-13 by human Th2 cells in a dose-dependent manner without affecting the level of the anti-inflammatory cytokine IL-10.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 106, "end": 110}], "disease": [{"text": "inflammation", "start": 45, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "However, he suffered from a mild neurological impairment, which is an uncommon feature that extends the phenotype associated with PGM1-CDG.", "output": {"entities": {"gene": [{"text": "PGM1", "start": 130, "end": 134}], "disease": [{"text": "mild", "start": 28, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "p53 tumor suppressor gene mutations predict decreased survival of patients with sporadic colorectal carcinoma.", "output": {"entities": {"gene": [{"text": "p53 tumor suppressor gene", "start": 0, "end": 25}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 90, "end": 95}], "disease": [{"text": "Farber disease", "start": 45, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASAH1", "start": 90, "end": 95}, "tail": {"text": "Farber disease", "start": 45, "end": 59}}]}}, "schema": []}
{"input": "A survey of enzymes related with H3K9 methylation indicated that KDM3A/JMJD1A, a demethylase for H3K9me1 and me2, gradually increases during cancer transformation and is elevated in patient tissues.", "output": {"entities": {"gene": [{"text": "me2", "start": 109, "end": 112}], "disease": [{"text": "cancer", "start": 141, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "None of the markers p53, Hsp70, Ki67, and CD34 demonstrated prognostic significance for 5-year survival in patients with squamous cell carcinoma of the tongue.", "output": {"entities": {"gene": [{"text": "CD34", "start": 42, "end": 46}], "disease": [{"text": "squamous cell carcinoma of the tongue", "start": 121, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Fibroblast growth factor receptor-3 (FGFR3) is a receptor tyrosine kinase implicated in the tumorigenesis of multiple malignancies, including bladder and other urothelial cancers, multiple myeloma, and cervical cancer.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 37, "end": 42}], "disease": [{"text": "tumorigenesis", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Plasma lipids were measured enzymatically, lipoprotein subclasses were assessed by nuclear magnetic resonance, and coronary artery calcification (CAC) was quantified by electron beam computed tomography.", "output": {"entities": {"gene": [{"text": "CAC", "start": 146, "end": 149}], "disease": [{"text": "coronary artery calcification", "start": 115, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In the DNA of one small cell carcinoma, an extra c-myc and N-myc cross-hybridizing restriction fragment was observed, possibly owing to an amplification of a yet uncharacterized myc-related gene.", "output": {"entities": {"gene": [{"text": "N-myc", "start": 59, "end": 64}], "disease": [{"text": "small cell carcinoma", "start": 18, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients.", "output": {"entities": {"gene": [{"text": "SLC3A1", "start": 66, "end": 72}], "disease": [{"text": "cystinuria", "start": 76, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC3A1", "start": 66, "end": 72}, "tail": {"text": "cystinuria", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "In addition to EWS/FLI, variant translocation fusions belonging to the TET/ETS family have been identified in Ewing' s sarcoma.", "output": {"entities": {"gene": [{"text": "EWS", "start": 15, "end": 18}], "disease": [{"text": "translocation", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Vesicular glutamate transporter 1, netrin-G2, and netrin-G1d and G1f were increased in bipolar disorder but not in schizophrenia.", "output": {"entities": {"gene": [{"text": "netrin-G2", "start": 35, "end": 44}], "disease": [{"text": "bipolar disorder", "start": 87, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "netrin-G2", "start": 35, "end": 44}, "tail": {"text": "bipolar disorder", "start": 87, "end": 103}}]}}, "schema": []}
{"input": "Tissue specificity of PARP-DBD expression in human tumor cells was confirmed using the PSA-producing (LNCaP) and PSA-negative (PC-3) prostate cancer cells, as well as cells of nonprostate origin, Ewing' s sarcoma (A4573 cells).", "output": {"entities": {"gene": [{"text": "PSA", "start": 87, "end": 90}], "disease": [{"text": "sarcoma", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We postulated that DNA sequence variation in PPAR gamma (PPARG) co-activator 1 alpha (PPARGC1A), a gene encoding a co-activator of the LCPUFA-sensing PPARG-retinoid X receptor (RXR) transcription complex, may influence neovascularization (NV) in age-related macular degeneration (AMD).", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 86, "end": 94}], "disease": [{"text": "neovascularization", "start": 219, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Thioredoxin (Trx) is an antioxidant that prevents oxidative stress-induced cell death, suggesting a potential therapeutic role in bronchopulmonary dysplasia.", "output": {"entities": {"gene": [{"text": "Thioredoxin", "start": 0, "end": 11}], "disease": [{"text": "bronchopulmonary dysplasia", "start": 130, "end": 156}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Thioredoxin", "start": 0, "end": 11}, "tail": {"text": "bronchopulmonary dysplasia", "start": 130, "end": 156}}]}}, "schema": []}
{"input": "CCN3/nephroblastoma overexpressed belongs to the CCN family of genes that encode secreted proteins associated with the extracellular matrix (ECM) and exert regulatory effects at the cellular level.", "output": {"entities": {"gene": [{"text": "ECM", "start": 141, "end": 144}], "disease": [{"text": "nephroblastoma", "start": 5, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The growth, clone formation rate (CFR) ((5. 33 +/-1. 53)%) of the primary lung cancer cells transfected with the WWOX gene, tumor size and weight were significantly lower than those of the non-transfected lung cancer cells (CFR: (14. 33 +/-1. 53)%) and the primary lung cancer cells transfected with blank plasmids (CFR: (11. 00 +/-1. 73)%, P < 0. 05).", "output": {"entities": {"gene": [{"text": "WWOX gene", "start": 113, "end": 122}], "disease": [{"text": "weight", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The consistent results from both linkage and association studies strongly implicate the GGC repeats in the AR as a prostate cancer susceptibility gene.", "output": {"entities": {"gene": [{"text": "GGC", "start": 88, "end": 91}], "disease": [{"text": "prostate cancer susceptibility", "start": 115, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the role of myeloperoxidase (MPO) in determining the sensitivity of leukemia cells to PTL-induced apoptosis.", "output": {"entities": {"gene": [{"text": "PTL", "start": 99, "end": 102}], "disease": [{"text": "leukemia", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic silencing of the proapoptotic gene BIM in anaplastic large cell lymphoma through an MeCP2/SIN3a deacetylating complex.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 95, "end": 100}], "disease": [{"text": "large cell lymphoma", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Why is vision impaired in fragile X premutation carriers? The role of fragile X mental retardation protein and potential FMR1 mRNA toxicity.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 121, "end": 125}], "disease": [{"text": "vision impaired", "start": 7, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Using a focal cerebral ischemia model in rats, brain ischemia-induced changes in expression levels of mRNA and protein, and activities of proprotein convertase 2 (PC2) in the cortex were examined.", "output": {"entities": {"gene": [{"text": "PC2", "start": 163, "end": 166}], "disease": [{"text": "brain ischemia", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Genomic and phenotypic analysis reveals a key role for CCN1 (CYR61) in BAG3-modulated adhesion and invasion.", "output": {"entities": {"gene": [{"text": "CYR61", "start": 61, "end": 66}], "disease": [{"text": "adhesion", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Comparison of three genotypes revealed significant interaction between smoking and the IL6-634C/G genotype manifested by CRP concentrations (p = 0. 007) after the adjustments cited above.", "output": {"entities": {"gene": [{"text": "IL6", "start": 87, "end": 90}], "disease": [{"text": "smoking", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In addition, no significant interaction was observed after adjusting for multiple testing between genetic variants and pack-years of smoking, intake of red meat or HAAs (PhIP, MeIQx, Di-MeIQx or total HAAs) or NAT2 genotype (Rapid versus Slow or Intermediate).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 210, "end": 214}], "disease": [{"text": "smoking", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that is mutated in syndromic forms of HSCR.", "output": {"entities": {"gene": [{"text": "EDN3", "start": 261, "end": 265}], "disease": [{"text": "malformation", "start": 19, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that the Ile164 polymorphism of the beta2-adrenoceptor does not have a major impact on outcome in individuals with heart failure, although it' s potential interaction with beta-blockers requires further examination.", "output": {"entities": {"gene": [{"text": "beta2", "start": 56, "end": 61}], "disease": [{"text": "heart failure", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Bioinformatic analysis identified putative downstream effectors of tumor protein 53 (p53) that were consistently repressed in gonadotrope pituitary tumors, including RPRM, P21, and PMAIP1, with concomitant inhibition of the upstream p53 regulator, PLAGL1 (Zac1).", "output": {"entities": {"gene": [{"text": "PMAIP1", "start": 181, "end": 187}], "disease": [{"text": "pituitary tumors", "start": 138, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "PLTP activity and apoE were measured in patients with type 2 diabetes from the DALI (Diabetes Atorvastatin Lipid Intervention) Study, a 30-week randomized double-blind placebo-controlled trial with atorvastatin (10 and 80 mg daily).", "output": {"entities": {"gene": [{"text": "DALI", "start": 79, "end": 83}], "disease": [{"text": "blind", "start": 162, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact.", "output": {"entities": {"gene": [{"text": "TGFA", "start": 65, "end": 69}], "disease": [{"text": "tooth agenesis", "start": 23, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to establish the importance of p57 (Kip2), a unique cyclin-dependent kinase inhibitor, in the oncogenesis of bladder carcinoma.", "output": {"entities": {"gene": [{"text": "cyclin-dependent kinase inhibitor", "start": 78, "end": 111}], "disease": [{"text": "bladder carcinoma", "start": 135, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We conclude that EPG5-related Vici syndrome defines a novel group of neurodevelopmental disorders that should be considered in patients with suggestive features in whom mitochondrial, glycogen, or lysosomal storage disorders have been excluded.", "output": {"entities": {"gene": [{"text": "EPG5", "start": 17, "end": 21}], "disease": [{"text": "Vici syndrome", "start": 30, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPG5", "start": 17, "end": 21}, "tail": {"text": "Vici syndrome", "start": 30, "end": 43}}]}}, "schema": []}
{"input": "Using multiple linear regression analysis, an equation was developed (adjusted R² = 0. 73; p < 0. 0001) that included positive [preoperative LVM, microRNA-133a, serum response factor (SRF, which is known to be a transactivator of miR-133) and age] and negative [body mass index (BMI), Wolf-Hirschhorn syndrome candidate-2 (WHSC2, which is a target for repression by miR-133a), β-myosin heavy chain, myosin light chain-2, diabetes mellitus, and male gender] independent predictors of LVM reduction.", "output": {"entities": {"gene": [{"text": "WHSC2", "start": 323, "end": 328}], "disease": [{"text": "body mass index", "start": 262, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Genes examined included the retinoblastoma susceptibility gene (Rb-1); cyclins D1, D2, A, and E; the CDK inhibitors p18, p19, and p27; CDK2 and CDK6; transcription factors E2F-4, E2F-5, and DP-1; and the neurofibromatosis type 2 gene.", "output": {"entities": {"gene": [{"text": "p27", "start": 130, "end": 133}], "disease": [{"text": "neurofibromatosis type 2", "start": 204, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 107, "end": 112}], "disease": [{"text": "X-linked adrenal hypoplasia", "start": 0, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 107, "end": 112}, "tail": {"text": "X-linked adrenal hypoplasia", "start": 0, "end": 27}}]}}, "schema": []}
{"input": "To search for cytogenetic events associated with metastasis in regional or distant lymph nodes in BCA, we investigated 8 primary BCA and their lymph node metastases and compared them with 18 nonmetastatic BCA.", "output": {"entities": {"gene": [{"text": "BCA", "start": 98, "end": 101}], "disease": [{"text": "metastasis", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Many polymorphisms in genes, such as ELAC2 (locus HPC2), RNase L (locus hereditary prostate cancer 1 gene [HPC1]), and MSR1 have been recognized as important genetic factors that confer an increased risk of developing prostate cancer in many populations.", "output": {"entities": {"gene": [{"text": "MSR1", "start": 119, "end": 123}], "disease": [{"text": "hereditary prostate cancer", "start": 72, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSR1", "start": 119, "end": 123}, "tail": {"text": "hereditary prostate cancer", "start": 72, "end": 98}}]}}, "schema": []}
{"input": "After a logistic regression fit, a best-subsets variable-selection procedure using model performance and predictive ability measures was applied to find a best predictor to distinguish BRCA1-associated tumors from non-BRCA associated tumors.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 185, "end": 190}], "disease": [{"text": "fit", "start": 28, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We have recently identified a polymorphism within the RANTES promoter (-403 G--> A) and have examined its role, using a PCR-RFLP assay, in the development of atopy and asthma in 201 Caucasian subjects.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 54, "end": 60}], "disease": [{"text": "atopy", "start": 158, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The diagnosis was established after sequencing a panel of genes associated with cataracts, which revealed compound heterozygous SC5D mutations: c. 479C & gt; G p. (Pro160Arg) and c. 630C & gt; A p. (Asp210Glu).", "output": {"entities": {"gene": [{"text": "SC5D", "start": 128, "end": 132}], "disease": [{"text": "cataracts", "start": 80, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SC5D", "start": 128, "end": 132}, "tail": {"text": "cataracts", "start": 80, "end": 89}}]}}, "schema": []}
{"input": "We demonstrate here for the first time that miR-21 is positively regulated via an AKT-dependent pathway, which is depressed during prolonged hypoxia.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 44, "end": 50}], "disease": [{"text": "hypoxia", "start": 141, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Analyses based on haplotypic genotypes (diplotypes), constructed with SNPs that differentiate common extant haplotypes extending across IDE, provided compelling evidence of association with fasting insulin levels (P = 0. 0009), 2-h insulin levels (P = 0. 0027), homeostasis model assessment of insulin resistance (P = 0. 0001), and BMI (P = 0. 0067), with effects exclusively evident in men.", "output": {"entities": {"gene": [{"text": "IDE", "start": 136, "end": 139}], "disease": [{"text": "insulin resistance", "start": 294, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "The authors sequenced all eight exons and flanking regions in CTRC in 584 CP patients (497 TCP, 87 idiopathic CP) and 598 normal subjects and analysed the significance of association using & #967; (2) test.", "output": {"entities": {"gene": [{"text": "CTRC", "start": 62, "end": 66}], "disease": [{"text": "TCP", "start": 91, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTRC", "start": 62, "end": 66}, "tail": {"text": "TCP", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.", "output": {"entities": {"gene": [{"text": "IFN", "start": 76, "end": 79}], "disease": [{"text": "vasculitis", "start": 226, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "We investigated the activation of FGFR3 and OIS by mutation and immunohistochemical analysis in skin tumours, including seborrhoeic keratosis, actinic keratosis (AK), Bowen' s disease (BD), basal cell carcinoma (BCC) and squamous cell carcinoma (SCC).", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 34, "end": 39}], "disease": [{"text": "basal cell carcinoma", "start": 190, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Interestingly a germline p53 mutation increased the incidence of DMH-induced colon, lung, hepatic, and uterine tumors, while having limited effects on OHBBN-induced bladder tumors.", "output": {"entities": {"gene": [{"text": "DMH", "start": 65, "end": 68}], "disease": [{"text": "bladder tumors", "start": 165, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.", "output": {"entities": {"gene": [{"text": "keratin 3", "start": 50, "end": 59}], "disease": [{"text": "Meesmann corneal dystrophy", "start": 104, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 3", "start": 50, "end": 59}, "tail": {"text": "Meesmann corneal dystrophy", "start": 104, "end": 130}}]}}, "schema": []}
{"input": "This suggests a dysfunction of the HPA-axis in HR participants that predates the development of alcoholism and a dissociation between plasma ACTH and cortisol levels as a function of family history of alcoholism.", "output": {"entities": {"gene": [{"text": "HPA", "start": 35, "end": 38}], "disease": [{"text": "dissociation", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.", "output": {"entities": {"gene": [{"text": "REPS2", "start": 33, "end": 38}], "disease": [{"text": "breast cancer", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "REPS2", "start": 33, "end": 38}, "tail": {"text": "breast cancer", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "14-DAG mediated activation of adenylate cyclase-cAMP signaling leading to up-regulation of cNOS may provide a promising approach in the prevention of liver diseases during chronic alcoholism.", "output": {"entities": {"gene": [{"text": "DAG", "start": 3, "end": 6}], "disease": [{"text": "liver diseases", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "We addressed the in vivo function of DAF in a knockout mouse model and describe here that deletion of DAF exacerbates autoimmune disease development in MRL/lpr mice, a model for human systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "DAF", "start": 37, "end": 40}], "disease": [{"text": "systemic lupus erythematosus", "start": 184, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The genes implicated, which replicated genes previously shown to be associated with alcoholism were: cadherin 11, collagen type 11 & #945; 2, neuromedin U receptor 2, exportin7, and semaphorin-associated protein 5A.", "output": {"entities": {"gene": [{"text": "cadherin 11", "start": 101, "end": 112}], "disease": [{"text": "alcoholism", "start": 84, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cadherin 11", "start": 101, "end": 112}, "tail": {"text": "alcoholism", "start": 84, "end": 94}}]}}, "schema": []}
{"input": "We also observed an inverse correlation between the miR-124-3p levels and PIM1 protein or mRNA levels in astrocytoma samples.", "output": {"entities": {"gene": [{"text": "PIM1", "start": 74, "end": 78}], "disease": [{"text": "astrocytoma", "start": 105, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The second gene fusion event, a translocation between the CLPTM1L and GLIS3 genes, generates a transcript whose product also promotes cancer phenotypes in HCC cell lines.", "output": {"entities": {"gene": [{"text": "CLPTM1L", "start": 58, "end": 65}], "disease": [{"text": "translocation", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "To determine (1) whether the A (-2518) G polymorphism of CCL-2, the gene encoding monocyte chemoattractant protein-1 (MCP-1), is associated with disease, MCP-1 concentration, nephritis, or coronary artery calcification (CAC) in systemic lupus erythematosus (SLE); and (2) whether MCP-1 and homocysteine (Hcy) concentrations are correlated.", "output": {"entities": {"gene": [{"text": "CAC", "start": 220, "end": 223}], "disease": [{"text": "coronary artery calcification", "start": 189, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "MiR-19a was upregulated in epithelia of severe asthmatic subjects compared with cells from mild asthmatics and healthy controls.", "output": {"entities": {"gene": [{"text": "19a", "start": 4, "end": 7}], "disease": [{"text": "mild", "start": 91, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Thyroid hormone receptor alpha 1 (c-erb A alpha 1) suppressed transforming phenotype of nasopharyngeal carcinoma cell line.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 8, "end": 24}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 88, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We evaluated a strategy for anti-MCP-1 gene therapy against hepatic fibrosis by transfecting an amino-terminal deletion mutant, lacking the amino-terminal codons 2 to 8 of the human MCP-1 gene and designated 7ND, into skeletal muscle in a rat experimental model of dimethylnitrosamine (DMN)-induced fibrosis.", "output": {"entities": {"gene": [{"text": "DMN", "start": 286, "end": 289}], "disease": [{"text": "fibrosis", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We developed a nonallele-specific adeno-associated virus (AAV)-based RNAi knockdown strategy to rescue the retina degeneration caused by GCAP1 mutations.", "output": {"entities": {"gene": [{"text": "GCAP1", "start": 137, "end": 142}], "disease": [{"text": "retina degeneration", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "ectodysplasin-A", "start": 73, "end": 88}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 108, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ectodysplasin-A", "start": 73, "end": 88}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 108, "end": 141}}]}}, "schema": []}
{"input": "The role of Dkk1 in response to acid-mediated epithelial injury was analyzed by cellular assays in vitro utilizing squamous esophageal epithelial cell lines (EPC1-hTERT, EPC2-hTERT, and HEEC).", "output": {"entities": {"gene": [{"text": "EPC1", "start": 158, "end": 162}], "disease": [{"text": "esophageal", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We have therefore investigated the restriction fragment length polymorphisms of the human GR gene locus (GRL) and have sought associations of specific alleles with anthropometric measurements and indices of insulin secretion and resistance in obesity.", "output": {"entities": {"gene": [{"text": "GRL", "start": 105, "end": 108}], "disease": [{"text": "obesity", "start": 243, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Indeed, inhibitors of ephrin-B2 binding to endogenous EphB4 did not influence cell substrate adhesion.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 54, "end": 59}], "disease": [{"text": "adhesion", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, prognostic significance of GCLC expression was investigated in patients (n = 28) with advanced malignant melanoma.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 40, "end": 44}], "disease": [{"text": "malignant melanoma", "start": 108, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The methylation patterns of the genes p16 (INK4a) (p16), tissue inhibitor of metalloproteinase 3 (TIMP3), p15 (INK4b) (p15), E-cadherin (ECAD), death-associated protein kinase (DAPK), p73, RAS-association domain family 1A (RASSF1A), p14, O (6)-methylguanine DNA methyltransferase (MGMT), and retinoid acid receptor beta2 (RARbeta) were determined in patients with monoclonal gammopathy of undetermined significance (MGUS; n = 29), smoldering multiple myeloma (SMM; n = 5), multiple myeloma (MM; n = 113), or plasma cell leukemia (PCL; n = 7) by methylation-specific polymerase chain reaction analysis.", "output": {"entities": {"gene": [{"text": "p73", "start": 184, "end": 187}], "disease": [{"text": "plasma cell leukemia", "start": 508, "end": 528}]}, "relations": {}}, "schema": []}
{"input": "We report here that VPA treatment disrupts the AML1/ETO-HDAC1 physical interaction, stimulates the global dissociation of AML1/ETO-HDAC1 complex from the promoter of AML1/ETO target genes, and induces relocation of both AML1/ETO and HDAC1 protein from nuclear to perinuclear region.", "output": {"entities": {"gene": [{"text": "AML1", "start": 47, "end": 51}], "disease": [{"text": "dissociation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Systemic injection of NaIO (3) was used to ablate the retinal pigment epithelial (RPE) layer in C57Bl6 mice and initiate neural retinal degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 82, "end": 85}], "disease": [{"text": "retinal degeneration", "start": 128, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "TMPRSS6 inhibition via decreased STAT5 phosphorylation may be an additional mechanism by which inflammation stimulates hepcidin expression to regulate iron homeostasis and immunity.", "output": {"entities": {"gene": [{"text": "STAT5", "start": 33, "end": 38}], "disease": [{"text": "inflammation", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "SAG silencing selectively inhibited cancer cell proliferation, suppressed in vivo tumor growth, and sensitized radiation-resistant cancer cells to radiation.", "output": {"entities": {"gene": [{"text": "SAG", "start": 0, "end": 3}], "disease": [{"text": "resistant cancer", "start": 121, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "These phenotypes often present in elderly individuals who do not carry peripherin/RDS gene mutations and are associated with retinal pigment epithelium alterations and increased risk for choroidal neovascularization.", "output": {"entities": {"gene": [{"text": "peripherin", "start": 71, "end": 81}], "disease": [{"text": "choroidal neovascularization", "start": 187, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four-hour DBP and MBP, LVM, LVM: height ratio, insulin level, insulin: glucose ratio and PRA were significantly higher in subgroup A than in subgroup B. Fasting blood sugar level, 24-h DBP and MBP, insulin level, insulin: glucose ratio, PRA, noradrenaline, adrenaline and plasma aldosterone levels were significantly higher in subgroup C than in subgroup D. Multivariate analysis also indicated that 24-h MBP and PRA levels were significantly influenced by the association between a positive family history of hypertension and obesity.", "output": {"entities": {"gene": [{"text": "DBP", "start": 17, "end": 20}], "disease": [{"text": "height", "start": 40, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We also showed that overexpression of Sirt3 using adenovirus inhibited HCC cell growth (two cell lines: HepG2 and HuH-7 cells) and induced apoptosis, which was evidenced by the increase of LDH leakage, enhancement of TUNEL-positive cells number and promotion of AIF translocation to nuclei.", "output": {"entities": {"gene": [{"text": "HCC", "start": 71, "end": 74}], "disease": [{"text": "adenovirus", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Clear cell sarcoma of soft tissue (CCS-ST) is a rare malignant neoplasm characterized by a tumor-defining translocation [t (12; 22) (q13; q12)], resulting in the EWS-ATF1 gene fusion.", "output": {"entities": {"gene": [{"text": "EWS", "start": 162, "end": 165}], "disease": [{"text": "translocation", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In vitro studies showed that CRA treatment downregulated the mRNA levels of MCP-1, and inhibited monocyte adhesion and migration, together with suppression of NF-κB signaling pathway.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 159, "end": 164}], "disease": [{"text": "adhesion", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.", "output": {"entities": {"gene": [{"text": "DNAJC19", "start": 12, "end": 19}], "disease": [{"text": "DCMA", "start": 99, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNAJC19", "start": 12, "end": 19}, "tail": {"text": "DCMA", "start": 99, "end": 103}}]}}, "schema": []}
{"input": "Hypoadiponectinemia of 1. 7 microg/ml was also revealed, which may, in part, account for the insulin resistance and decreased LPL activity.", "output": {"entities": {"gene": [{"text": "LPL", "start": 126, "end": 129}], "disease": [{"text": "insulin resistance", "start": 93, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Local recurrence could be mostly averted by anatomic hepatectomy, although specific epithelial-mesenchymal transitions signaling might regulate the biologic aggressiveness of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 175, "end": 178}], "disease": [{"text": "aggressiveness", "start": 157, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In a murine model of stroke, using middle cerebral artery occlusion (MCAO), we found that C5a levels in the brain increased; this also occurred in cerebral slice cultures exposed to OGD.", "output": {"entities": {"gene": [{"text": "C5a", "start": 90, "end": 93}], "disease": [{"text": "middle cerebral artery occlusion", "start": 35, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "SKP2 is frequently overexpressed in a variety of cancers.", "output": {"entities": {"gene": [{"text": "SKP2", "start": 0, "end": 4}], "disease": [{"text": "cancers", "start": 49, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SKP2", "start": 0, "end": 4}, "tail": {"text": "cancers", "start": 49, "end": 56}}]}}, "schema": []}
{"input": "In the present study we assessed the potential role of miR-21 in the regulation of hypoxia-induced changes in ADMA metabolism in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 55, "end": 61}], "disease": [{"text": "hypoxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "CASR gene activating mutations in two families with autosomal dominant hypocalcemia.", "output": {"entities": {"gene": [{"text": "CASR", "start": 0, "end": 4}], "disease": [{"text": "autosomal dominant hypocalcemia", "start": 52, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASR", "start": 0, "end": 4}, "tail": {"text": "autosomal dominant hypocalcemia", "start": 52, "end": 83}}]}}, "schema": []}
{"input": "We undertook combined genetic and epigenetic analysis of CHEK2 in sporadic primary breast, ovarian, and colon tumors [all exhibiting chromosome 22q loss of heterozygosity (LOH)] and cancer cell lines.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 57, "end": 62}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The number of P-STAT1 observed correlated significantly with the body mass index (BMI; p = 0. 03) and homeostatic model assessment (p = 0. 007).", "output": {"entities": {"gene": [{"text": "STAT1", "start": 16, "end": 21}], "disease": [{"text": "body mass index", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The Th1 T cell-rich myocarditis plays a pivotal role in CCC pathogenesis.", "output": {"entities": {"gene": [{"text": "Th1", "start": 4, "end": 7}], "disease": [{"text": "myocarditis", "start": 20, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "XIAP, Smac/DIABLO, and XAF1 expression was found in all non-neoplastic gastric mucosa samples and all adenocarcinomas.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 23, "end": 27}], "disease": [{"text": "non-neoplastic", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls.", "output": {"entities": {"gene": [{"text": "POT1", "start": 125, "end": 129}], "disease": [{"text": "basal cell carcinoma", "start": 451, "end": 471}]}, "relations": {}}, "schema": []}
{"input": "Our findings identify Gal-9 as a novel component of the first wave of the cytokine storm in acute HIV infection that is sustained at elevated levels in virally suppressed subjects and suggest that Gal-9: Tim-3 crosstalk remains active in elite controllers and antiretroviral (ARV)-suppressed subjects, potentially contributing to ongoing inflammation and persistent T cell dysfunction.", "output": {"entities": {"gene": [{"text": "Tim-3", "start": 204, "end": 209}], "disease": [{"text": "inflammation", "start": 338, "end": 350}]}, "relations": {}}, "schema": []}
{"input": "For example, the odds ratio (OR) for developing early wheeze related to early maternal smoking was 2. 4 [95% confidence interval (CI) 1. 6-3. 7] in children with a wild-type CC homozygote genotype of the TNF-857 SNP, while no tobacco-related risk was seen in children carrying the rare T allele.", "output": {"entities": {"gene": [{"text": "TNF", "start": 204, "end": 207}], "disease": [{"text": "smoking", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In this study, the relative concentrations of breast cancer-associated lncRNA RP11-445H22. 4 were investigated in a total of 136 serum samples by real-time quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR).", "output": {"entities": {"gene": [{"text": "RP11-445H22. 4", "start": 78, "end": 92}], "disease": [{"text": "breast cancer", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of FCGR2A and FCGR3A, which have been suggested to influence the activity of rituximab as a single agent, did not affect time to treatment failure in the pooled analysis of the three FOLL05 treatment arms that combined rituximab with chemotherapy (P = 0. 742, P = 0. 252, respectively).", "output": {"entities": {"gene": [{"text": "FCGR3A", "start": 28, "end": 34}], "disease": [{"text": "arms", "start": 214, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Genetically induced dysfunctions of Kir2. 1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.", "output": {"entities": {"gene": [{"text": "Kir2. 1", "start": 36, "end": 43}], "disease": [{"text": "autism", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.", "output": {"entities": {"gene": [{"text": "CCR9", "start": 100, "end": 104}], "disease": [{"text": "status epilepticus", "start": 37, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Clinical features include hypertension, hypokalemia, alkalosis, reduced plasma renin activity (PRA), low aldosterone levels, and occasionally nephrocalcinosis.", "output": {"entities": {"gene": [{"text": "PRA", "start": 95, "end": 98}], "disease": [{"text": "alkalosis", "start": 53, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 119, "end": 124}], "disease": [{"text": "X-linked hydrocephalus", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 119, "end": 124}, "tail": {"text": "X-linked hydrocephalus", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "Unlike sporadic MSI-H CRCs, MSI-H IBD-Ns presented with heterogeneous mismatch repair defects involving MLH1, MSH2, MSH6, or PMS2, and a low frequency of MLH1 promoter methylation.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 110, "end": 114}], "disease": [{"text": "sporadic", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "RERs are rarely associated with carcinogenesis in human primary HCC, and RER-related genetic alterations may be associated with a part of HCC with multiple primary cancers.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "carcinogenesis", "start": 32, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "These studies showed that, like in the mouse, human PAP7 is highly expressed in steroidogenic tissues, where it follows the pattern of PRKAR1A expression, suggesting that it participates in PRKAR1A-mediated tumorigenesis and hypercortisolism.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 135, "end": 142}], "disease": [{"text": "tumorigenesis", "start": 207, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Thus, a potential therapeutic role for CCK-A antagonists in the treatment of ethanol abuse and for CCK-B antagonists in the treatment of cocaine abuse is proposed.", "output": {"entities": {"gene": [{"text": "CCK-A", "start": 39, "end": 44}], "disease": [{"text": "ethanol abuse", "start": 77, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCK-A", "start": 39, "end": 44}, "tail": {"text": "ethanol abuse", "start": 77, "end": 90}}]}}, "schema": []}
{"input": "Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate dehydrogenase subunit (SDHB and SDHD) mutations.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 284, "end": 288}], "disease": [{"text": "familial cancer", "start": 84, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "This study provides empirical evidence for the gene-environment interactions between TNIP1/ANXA6 and alcohol use, CSMD1 and cigarette smoking, highlighting the importance of gene-environment interactions in the pathogenesis of psoriasis.", "output": {"entities": {"gene": [{"text": "CSMD1", "start": 114, "end": 119}], "disease": [{"text": "alcohol use", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We conclude that GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy.", "output": {"entities": {"gene": [{"text": "GUCA1A", "start": 17, "end": 23}], "disease": [{"text": "central areolar choroidal dystrophy", "start": 98, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GUCA1A", "start": 17, "end": 23}, "tail": {"text": "central areolar choroidal dystrophy", "start": 98, "end": 133}}]}}, "schema": []}
{"input": "The analysis showed that more than 50% of these genes, particularly AKT1, BDNF, CAPON, CCKAR, CHRNA7, CNR1, COMT, DNTBP1, GAD1, GRM3, IL10, MLC1, NOTCH4, NRG1, NR4A2/NURR1, PRODH, RELN, RGS4, RTN4/NOGO and TNF, are subject to regulation by hypoxia and/or are expressed in the vasculature.", "output": {"entities": {"gene": [{"text": "NOTCH4", "start": 146, "end": 152}], "disease": [{"text": "hypoxia", "start": 240, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.", "output": {"entities": {"gene": [{"text": "3beta-hydroxysteroid-delta5-desaturase", "start": 96, "end": 134}], "disease": [{"text": "mental retardation", "start": 47, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "3beta-hydroxysteroid-delta5-desaturase", "start": 96, "end": 134}, "tail": {"text": "mental retardation", "start": 47, "end": 65}}]}}, "schema": []}
{"input": "This study identified a mutation in the CRYAA gene causing autosomal dominant nuclear cataracts and some patients show nystagmus or small blepharophimosis clinical features.", "output": {"entities": {"gene": [{"text": "CRYAA gene", "start": 40, "end": 50}], "disease": [{"text": "blepharophimosis", "start": 138, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We have recently found that nonselective endothelin ETA/ETB receptor blockade markedly improves survival rate and ameliorates end-organ damage in male homozygous rats transgenic (TGR) for the mouse Ren-2 renin gene without lowering blood pressure.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 204, "end": 214}], "disease": [{"text": "blood pressure", "start": 232, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "We also observed a negative association between ADCC responses and viral load in those who carry the HLA-A * 30/B * 13/Cw * 06 haplotype.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 101, "end": 106}], "disease": [{"text": "viral load", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.", "output": {"entities": {"gene": [{"text": "SMPD1", "start": 33, "end": 38}], "disease": [{"text": "type B Niemann-Pick disease", "start": 72, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMPD1", "start": 33, "end": 38}, "tail": {"text": "type B Niemann-Pick disease", "start": 72, "end": 99}}]}}, "schema": []}
{"input": "Over 20% of the mutations were observed in nonfamilial XLH patients, who represented de novo occurrences of PHEX mutations.", "output": {"entities": {"gene": [{"text": "PHEX", "start": 108, "end": 112}], "disease": [{"text": "XLH", "start": 55, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PHEX", "start": 108, "end": 112}, "tail": {"text": "XLH", "start": 55, "end": 58}}]}}, "schema": []}
{"input": "The same HLA-DR6 subtype found at increased frequency in our patients has previously been associated with the development of a CD8 lymphocytic host response to HIV-1, termed diffuse infiltrative lymphocytosis syndrome (DILS), which resembles autoimmune Sjogren' s disease and is associated with prolonged survival.", "output": {"entities": {"gene": [{"text": "CD8", "start": 127, "end": 130}], "disease": [{"text": "diffuse infiltrative lymphocytosis syndrome", "start": 174, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Mutations in FGFR1/FGF8/PROKR2 contributed to 7. 8% of our patients with CPHD/SOD.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 13, "end": 18}], "disease": [{"text": "SOD", "start": 78, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR1", "start": 13, "end": 18}, "tail": {"text": "SOD", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "In cerebrovascular diseases, heart diseases and acute digestive diseases, significant differences of EC-SOD were not observed.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 101, "end": 107}], "disease": [{"text": "digestive diseases", "start": 54, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "CD137 (ILA/4-1BB) is a member of the tumor-necrosis-factor receptor family.", "output": {"entities": {"gene": [{"text": "4-1BB", "start": 11, "end": 16}], "disease": [{"text": "necrosis", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that epigenetic inactivation of NORE1 due to aberrant promoter hypermethylation is a frequent event in colorectal tumorigenesis and might be implicated in the malignant progression of colorectal tumors.", "output": {"entities": {"gene": [{"text": "NORE1", "start": 50, "end": 55}], "disease": [{"text": "tumorigenesis", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.", "output": {"entities": {"gene": [{"text": "gigaxonin", "start": 18, "end": 27}], "disease": [{"text": "giant axonal neuropathy", "start": 101, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gigaxonin", "start": 18, "end": 27}, "tail": {"text": "giant axonal neuropathy", "start": 101, "end": 124}}]}}, "schema": []}
{"input": "Because HLA class II molecules are predominantly expressed on hematopoietic cells, mHag-specific CD4 (+) T cells may selectively mediate graft versus leukemia (GvL) reactivity without graft versus host disease (GvHD).", "output": {"entities": {"gene": [{"text": "CD4", "start": 97, "end": 100}], "disease": [{"text": "leukemia", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In inflamed mucosa a specific expression pattern of epithelial IDO was found where epithelial cells flanking ulcers or bordering crypt abscesses showed high IDO expression.", "output": {"entities": {"gene": [{"text": "IDO", "start": 63, "end": 66}], "disease": [{"text": "ulcers", "start": 109, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "It is possible that genetic variants of the NPY1R gene affect the NPY-NPY receptor type Y1 signaling system in the brain, which may result in susceptibility to methamphetamine dependence or the development of methamphetamine psychosis, but the present findings need to be confirmed on replication.", "output": {"entities": {"gene": [{"text": "NPY1R", "start": 44, "end": 49}], "disease": [{"text": "psychosis", "start": 225, "end": 234}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY1R", "start": 44, "end": 49}, "tail": {"text": "psychosis", "start": 225, "end": 234}}]}}, "schema": []}
{"input": "Western blot analysis showed that IL-4, LPS and hypoxia increase the ALOX15B protein expression, whereas IL-13 has no effect on the protein levels.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 105, "end": 110}], "disease": [{"text": "hypoxia", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Our previous studies have found that rat bone marrow-derived mesenchymal stem cells (rBMSCs) transduced with a mutant caveolin-1 (F92A-Cav1) could enhance endothelial nitric oxide synthase (eNOS) activity and improve pulmonary vascular remodeling, but the potential mechanism is not yet fully explored.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 155, "end": 188}], "disease": [{"text": "vascular remodeling", "start": 227, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "We studied expression patterns of Maspin in pTa/pT1 urothelial carcinoma of the bladder and compared them with microvessel density (MVD) for two vascular markers (CD34 and CD105) and correlated the findings with clinical outcome.", "output": {"entities": {"gene": [{"text": "CD105", "start": 172, "end": 177}], "disease": [{"text": "carcinoma of the bladder", "start": 63, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis of a lumbar soft tissue Ewing sarcoma (ES) in a 7-month-old female child showed a t (17; 22) (q21; q12), a rare translocation leading to an EWSR1-ETV4 chimeric transcript.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 161, "end": 166}], "disease": [{"text": "translocation", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Repeated subcutaneous injections of parathyroid hormone-related protein into the hind-paw also induced hyperalgesia with increased osteoclastic bone resorption.", "output": {"entities": {"gene": [{"text": "parathyroid hormone-related protein", "start": 36, "end": 71}], "disease": [{"text": "bone resorption", "start": 144, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "parathyroid hormone-related protein", "start": 36, "end": 71}, "tail": {"text": "bone resorption", "start": 144, "end": 159}}]}}, "schema": []}
{"input": "Mice null for retinoic acid receptor gamma (RAR gamma) exhibit axial defects, including homeosis of several vertebrae, therefore establishing a role for this receptor in normal axial specification RAR gamma null mutants are also completely resistant to RA-induced spina bifida, which occurs in wildtype embryos treated at 8. 5-9. 0 dpc, suggesting that this receptor specifically transduces at least a subset of the teratogenic effects of retinoids.", "output": {"entities": {"gene": [{"text": "retinoic acid receptor gamma", "start": 14, "end": 42}], "disease": [{"text": "spina bifida", "start": 264, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "When combined with Pten (phosphatase and tensin homologue) loss, double-mutant mice were prone to invasive cancer development.", "output": {"entities": {"gene": [{"text": "tensin", "start": 41, "end": 47}], "disease": [{"text": "cancer", "start": 107, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In order to analyze involvement of major histocompatibility complex class I chain-related gene A (MICA) and tumor necrosis factor a (TNFa) microsatellite polymorphisms as well as TNFB gene in juvenile idiopathic arthritis (JIA), we studied 128 patients divided into groups according to clinical features [monoarthritis (n = 14), oligoarthritis (n = 58), polyarthritis (n = 50), and systemic (n = 6)], and 114 age-and sex-matched healthy controls from Latvia.", "output": {"entities": {"gene": [{"text": "MICA", "start": 98, "end": 102}], "disease": [{"text": "monoarthritis", "start": 305, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "Logistic analysis revealed that the rs12304647A > C SNP was associated with a significant protective effect against HCC in patients with chronic hepatitis (odds ratio [OR] = 0. 70, P = 0. 005 in a codominant model; OR = 0. 73, P = 0. 03 in a dominant model; OR = 0. 31, P = 0. 004 in a recessive model), and in the patients with cirrhosis (OR = 0. 63, P = 0. 0009 in a codominant model; OR = 0. 66, P = 0. 01 in a dominant model; OR = 0. 25, P = 0. 001 in a recessive model).", "output": {"entities": {"gene": [{"text": "HCC", "start": 116, "end": 119}], "disease": [{"text": "chronic hepatitis", "start": 137, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In both men and women, mean BMI and body weight were not significantly different among APOA4 genotypes.", "output": {"entities": {"gene": [{"text": "APOA4", "start": 87, "end": 92}], "disease": [{"text": "body weight", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Carboxypeptidase 4 (CPA4) is a zinc-dependent metallocarboxypeptidase on chromosome 7q32 in a region linked to prostate cancer aggressiveness.", "output": {"entities": {"gene": [{"text": "CPA4", "start": 20, "end": 24}], "disease": [{"text": "aggressiveness", "start": 127, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the administration of furosemide in vivo decreased the blood pressure and increased the urine output and natriuresis in MHS rats demonstrating the actual involvement of NKCC2 activity in the pathogenesis of hypertension in this strain of rats.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 179, "end": 184}], "disease": [{"text": "blood pressure", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.", "output": {"entities": {"gene": [{"text": "RPGRIP1", "start": 12, "end": 19}], "disease": [{"text": "cone-rod dystrophy", "start": 61, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPGRIP1", "start": 12, "end": 19}, "tail": {"text": "cone-rod dystrophy", "start": 61, "end": 79}}]}}, "schema": []}
{"input": "Treatment with MIB led to an induction of miR-210 expression, a hypoxia-related miRNA.", "output": {"entities": {"gene": [{"text": "MIB", "start": 15, "end": 18}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This study also sequenced PRRT2 in 29 sporadic cases affected with PKC and identified mutations in 10 cases, including six with the c. 649dupC mutation.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 26, "end": 31}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "On reviewing the clinical features of the reported patients with the same mutation in the STXBP1 gene, it has been observed that poor eye contact, tremour, dyskinesia, head/hand stereotypies and both cognitive and motor progressive deterioration are common symptoms, although never considered as indicative of a Rett syndrome phenotype.", "output": {"entities": {"gene": [{"text": "STXBP1 gene", "start": 90, "end": 101}], "disease": [{"text": "poor eye contact", "start": 129, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Recently, a subset of IL-17 producing T cells distinct from Th1 or Th2 cells has been described as key players in inflammation and autoimmune diseases as well as cancer development.", "output": {"entities": {"gene": [{"text": "Th1", "start": 60, "end": 63}], "disease": [{"text": "inflammation", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We established in vitro and in vivo hypoxic models to investigate the expression of beta-catenin in hypoxic HCC cells and its role in hypoxia-induced aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 108, "end": 111}], "disease": [{"text": "aggressiveness", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "PPP3CC", "start": 210, "end": 216}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPP3CC", "start": 210, "end": 216}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "These data indicate that elevated concentrations of PEDF inhibit VEGF-induced retinal endothelial cell growth and migration and retinal neovascularization.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 52, "end": 56}], "disease": [{"text": "retinal neovascularization", "start": 128, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In addition to these features of sporadic cancers, some individuals inherit mutant forms of p53 and consequently suffer from Li-Fraumeni syndrome, showing genetic predisposition to certain malignancies.", "output": {"entities": {"gene": [{"text": "Li-Fraumeni syndrome", "start": 125, "end": 145}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.", "output": {"entities": {"gene": [{"text": "PTPN11", "start": 203, "end": 209}], "disease": [{"text": "stature", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis at the A9 tract in exon 17 and loss of heterozygosity analysis at the EphB2 gene locus were carried out in 13 sporadic EphB2-negative gastric cancers.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 88, "end": 93}], "disease": [{"text": "sporadic", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Because oxidative stress inhibits the LKB1/AMPK signaling axis to promote abnormal cell growth in cancer cells, we investigated whether oxidative stress associated with hypertension also results in the inhibition of this kinase circuit to contribute to left ventricular hypertrophy.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 38, "end": 42}], "disease": [{"text": "ventricular hypertrophy", "start": 258, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Without Rb1 gene function, chromosomal aberrations are observed in retinoblastoma cells.", "output": {"entities": {"gene": [{"text": "Rb1 gene", "start": 8, "end": 16}], "disease": [{"text": "chromosomal aberrations", "start": 27, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Prior clinical reports revealed phenotypic variability ranging from the absence of symptoms to syncope among KCNQ1 G325R mutation carriers.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 109, "end": 114}], "disease": [{"text": "absence of symptoms", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "However, in a previous study, DAT knockout mice were reported to self-administer cocaine, generating much debate regarding the importance of the DAT in cocaine' s abuse-related effects.", "output": {"entities": {"gene": [{"text": "DAT", "start": 30, "end": 33}], "disease": [{"text": "cocaine' s abuse", "start": 152, "end": 168}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DAT", "start": 30, "end": 33}, "tail": {"text": "cocaine' s abuse", "start": 152, "end": 168}}]}}, "schema": []}
{"input": "Effects of mutation: Kcn1a heterozygous mice subjected to P6 hypoxia exhibited increased susceptibility to flurothyl-induced seizures at P50 as compared to Normoxia heterozygote littermates, and to wild-type Hypoxia and Normoxia mice.", "output": {"entities": {"gene": [{"text": "P50", "start": 137, "end": 140}], "disease": [{"text": "hypoxia", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Loss of BUB3 function could contribute to chromosomal instability.", "output": {"entities": {"gene": [{"text": "BUB3", "start": 8, "end": 12}], "disease": [{"text": "chromosomal instability", "start": 42, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Putative ATP1A1-NKCC2 gene interaction was tested by comparing hypertensive patients (blood pressure [BP] > 165/95 mm Hg) with normotensive controls age > 60 years with BP < 140/85 mm Hg.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 16, "end": 21}], "disease": [{"text": "blood pressure", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "NDI is a disorder in which patients are unable to concentrate their urine despite the presence of AVP.", "output": {"entities": {"gene": [{"text": "AVP", "start": 98, "end": 101}], "disease": [{"text": "unable to concentrate", "start": 40, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "These included the chemokines Cxcl9, Ccl12, Ccl8, Ccrl2, Cxcl10 and Ccl5, adhesion molecules Cd40, Cd74, and antiviral and antibacterial genes Rsad2, Mx1, Oasl1, Gbp5, Nos2, Batf2 and Tnfrsf11a.", "output": {"entities": {"gene": [{"text": "Mx1", "start": 150, "end": 153}], "disease": [{"text": "adhesion", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In previous studies of associations of variants in the genes UCP2, UCP3, PPARG2, CART, GRL, MC4R, MKKS, SHP, GHRL, and MCHR1 with obesity, we have used a case-control approach with cases defined by a threshold for BMI.", "output": {"entities": {"gene": [{"text": "GRL", "start": 87, "end": 90}], "disease": [{"text": "obesity", "start": 130, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 104, "end": 108}], "disease": [{"text": "Ollier disease", "start": 39, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH1", "start": 104, "end": 108}, "tail": {"text": "Ollier disease", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "Activation-induced cytidine deaminase (AID) produces widespread somatic mutation in mature B cells; however, the extent of \" off-target \" DSB formation and its role in translocation-associated malignancy is unknown.", "output": {"entities": {"gene": [{"text": "AID", "start": 39, "end": 42}], "disease": [{"text": "somatic mutation", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our findings add a new aspect to the mosaic of the p53 mutability in B-CLL.", "output": {"entities": {"gene": [{"text": "p53", "start": 51, "end": 54}], "disease": [{"text": "B-CLL", "start": 69, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p53", "start": 51, "end": 54}, "tail": {"text": "B-CLL", "start": 69, "end": 74}}]}}, "schema": []}
{"input": "We sought to analyse the expression of the sodium (SCN5A) and potassium (KCND3) channels as well as the fibrosis content in the ventricles of human HF and of non-diseased hearts under different post-mortem intervals.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 51, "end": 56}], "disease": [{"text": "fibrosis", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Sildenafil and FDP-Sr, but not testosterone, attenuated the cardiac dysfunction in diabetic cardiomyopathy, without changing the metabolic abnormalities, which may results from inhibiting oxidative and inflammatory cytokines and improving calcium homeostasis.", "output": {"entities": {"gene": [{"text": "FDP", "start": 15, "end": 18}], "disease": [{"text": "diabetic cardiomyopathy", "start": 83, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Indeed, serum HGF concentration was significantly correlated with blood pressure, suggesting that HGF secretion might be elevated in response to high blood pressure as a counter-system against endothelial dysfunction.", "output": {"entities": {"gene": [{"text": "HGF", "start": 14, "end": 17}], "disease": [{"text": "blood pressure", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association of XRCC1 Arg399Gln polymorphism, smoking and drinking with the risk of prostate cancer (PCa) in the population of Han nationality in Jiangsu and Anhui.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 34, "end": 39}], "disease": [{"text": "smoking", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "These results establish a strong link between c-ROS promoter demethylation and gain of c-ROS expression and function in glioma.", "output": {"entities": {"gene": [{"text": "ROS", "start": 48, "end": 51}], "disease": [{"text": "glioma", "start": 120, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROS", "start": 48, "end": 51}, "tail": {"text": "glioma", "start": 120, "end": 126}}]}}, "schema": []}
{"input": "Secreted phospholipase A2 group X (sPLA2-X) plays a key role in regulating eicosanoid formation and the development of inflammation and AHR in murine models.", "output": {"entities": {"gene": [{"text": "phospholipase A2 group X", "start": 9, "end": 33}], "disease": [{"text": "inflammation", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "PP2A-Bgamma subunit and KCNQ2 K + channels in bipolar disorder.", "output": {"entities": {"gene": [{"text": "PP2A", "start": 0, "end": 4}], "disease": [{"text": "bipolar disorder", "start": 46, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PP2A", "start": 0, "end": 4}, "tail": {"text": "bipolar disorder", "start": 46, "end": 62}}]}}, "schema": []}
{"input": "The objective of this study was to establish a classification of meiotic disorders by detection of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and cyclin A1 mRNA in patients presenting with non-obstructive azoospermia.", "output": {"entities": {"gene": [{"text": "cyclin A1", "start": 152, "end": 161}], "disease": [{"text": "non-obstructive azoospermia", "start": 195, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Role of the pentanucleotide (tttta) (n) polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism.", "output": {"entities": {"gene": [{"text": "CYP11a", "start": 76, "end": 82}], "disease": [{"text": "hirsutism", "start": 111, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "However, there is significant evidence of heterogeneity of risk between families; a much better fit to the data is obtained by assuming two BRCA1 alleles, one conferring a breast cancer risk of 62% and an ovarian cancer risk of 11% by age 60 years, the other conferring a breast cancer risk of 39% and an ovarian cancer risk of 42%, with the first allele representing 71% of all mutations (95% CI 55%-87%).", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 140, "end": 145}], "disease": [{"text": "fit", "start": 96, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.", "output": {"entities": {"gene": [{"text": "NBEAL2", "start": 13, "end": 19}], "disease": [{"text": "gray platelet syndrome", "start": 53, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NBEAL2", "start": 13, "end": 19}, "tail": {"text": "gray platelet syndrome", "start": 53, "end": 75}}]}}, "schema": []}
{"input": "Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 102, "end": 113}], "disease": [{"text": "lamellar ichthyosis", "start": 37, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In hypoxia, mRNA expression of OXCT1, ACAT1, BDH1 and 2 was downregulated.", "output": {"entities": {"gene": [{"text": "OXCT1", "start": 31, "end": 36}], "disease": [{"text": "hypoxia", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "We investigated the role of genetic variation in CD40 and CD40L genes in subclinical atherosclerosis assessed by coronary artery calcification (CAC) and carotid intima-media thickness in 620 individuals from 230 families in the DHS.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 58, "end": 63}], "disease": [{"text": "coronary artery calcification", "start": 113, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to determine differential expression of POSTN, IL-4, and IL-13 genes in the mucosa and polyps of 63 patients with CRSwNP and 23 chronic rhinosinusitis (CRS) without nasal polyps (CRSsNP) when compared with patients with nasal septum deviation (n = 18) who were used as controls.", "output": {"entities": {"gene": [{"text": "POSTN", "start": 72, "end": 77}], "disease": [{"text": "nasal septum deviation", "start": 252, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "In contrast, a range of c-jun, jun-B, and c-fos RNA transcript levels was detected in metastatic melanoma cell strains cultivated in medium with or without serum.", "output": {"entities": {"gene": [{"text": "c-jun", "start": 24, "end": 29}], "disease": [{"text": "metastatic melanoma", "start": 86, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Moreover, multivariate Cox-regression model showed the combined expression of S100P and HYAL2 as independent prognostic factor for PFS (P = 0. 001).", "output": {"entities": {"gene": [{"text": "S100P", "start": 78, "end": 83}], "disease": [{"text": "regression", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Although SAT RBP4 expression and the plasma RBP4 level demonstrated no significant relationship with body mass index or S (I), there was a strong positive correlation between RBP4 mRNA and adipose inflammation (monocyte chemoattractant protein-1 and CD68), and glucose transporter 4 mRNA.", "output": {"entities": {"gene": [{"text": "monocyte chemoattractant protein-1", "start": 211, "end": 245}], "disease": [{"text": "body mass index", "start": 101, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that brain aneurysms more prone to rupture may be identified on the basis of an individual' s genotype for endothelial nitric oxide synthase (eNOS), a critical vasomodulatory protein found to be increasingly relevant to the pathobiology of aneurysms.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 123, "end": 156}], "disease": [{"text": "aneurysms", "start": 27, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "We describe a long-term non-progressive injecting drug user (IDU) who was infected with human immunodeficiency virus type-1 (HIV-1) in 1984, and has survived with stable CD4 + T-cell counts (> 800/microliters blood) without any acquired immune deficiency syndrome (AIDS) related illness.", "output": {"entities": {"gene": [{"text": "CD4", "start": 170, "end": 173}], "disease": [{"text": "non-progressive", "start": 24, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "A total of 56 B-cell malignancies with a FISH-proven BCL3 involvement were identified with the translocation partners being IGH (n = 51), IGL (n = 2), IGK (n = 2) and a non-IG locus (n = 1).", "output": {"entities": {"gene": [{"text": "BCL3", "start": 53, "end": 57}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "T-2 weighted magnetic resonance imaging (MRI) at 8 weeks showed increased signal intensity compatible with inflammation in several pelvic limb muscles.", "output": {"entities": {"gene": [{"text": "MRI", "start": 41, "end": 44}], "disease": [{"text": "inflammation", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In this study, we identified the mRNA of the basic helix-loop-helix transcription factor human achaete-scute homologue-1 (hASH1 or ASCL1), which is required for normal development of the nervous system and has been implicated in the formation of neuroendocrine tumors, as a new FMRP target.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 278, "end": 282}], "disease": [{"text": "nervous system", "start": 187, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest that some less severe or late-onset forms of X-ALD associated with splice mutations result from the production of small amounts of normal ALDP.", "output": {"entities": {"gene": [{"text": "ALDP", "start": 171, "end": 175}], "disease": [{"text": "X-ALD", "start": 78, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALDP", "start": 171, "end": 175}, "tail": {"text": "X-ALD", "start": 78, "end": 83}}]}}, "schema": []}
{"input": "In conclusion, we provide the first evidence that de-regulated Jak3/STAT3/STAT5 signalling in CTCL cells represses the expression of the gene encoding miR-22, a novel tumor suppressor miRNA.", "output": {"entities": {"gene": [{"text": "miR-22", "start": 151, "end": 157}], "disease": [{"text": "CTCL", "start": 94, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-22", "start": 151, "end": 157}, "tail": {"text": "CTCL", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "We also found that REDD1 levels are increased in the postmortem PFC of human subjects with MDD relative to matched controls.", "output": {"entities": {"gene": [{"text": "REDD1", "start": 19, "end": 24}], "disease": [{"text": "MDD", "start": 91, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "REDD1", "start": 19, "end": 24}, "tail": {"text": "MDD", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "In the ACC 6 metallothionein genes were down-regulated in suicide (MT1E, MT1F, MT1G, MT1H, MT1X, MT2A) and three were down-regulated in the NAcc (MT1F, MT1G, MT1H).", "output": {"entities": {"gene": [{"text": "MT2A", "start": 97, "end": 101}], "disease": [{"text": "suicide", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.", "output": {"entities": {"gene": [{"text": "fumarylacetoacetate hydrolase", "start": 100, "end": 129}], "disease": [{"text": "Hereditary tyrosinemia type 1", "start": 0, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fumarylacetoacetate hydrolase", "start": 100, "end": 129}, "tail": {"text": "Hereditary tyrosinemia type 1", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "LDLR-deficient cells transduced by recombinant adenovirus containing human LRP5 exhibited increased binding of apolipoprotein E (apoE)-enriched beta-migrating very low density lipoprotein.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 0, "end": 4}], "disease": [{"text": "adenovirus", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "ALT showed significant positive correlations with body mass index, waist circumference, beta-cell function, insulin, homeostasis model assessment for insulin resistance, high-sensitivity C-reactive protein, total cholesterol, and triglycerides and increased with increasing number of metabolic syndrome components.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 187, "end": 205}], "disease": [{"text": "insulin resistance", "start": 150, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.", "output": {"entities": {"gene": [{"text": "KCNK9", "start": 140, "end": 145}], "disease": [{"text": "Birk Barel mental retardation dysmorphism syndrome", "start": 21, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNK9", "start": 140, "end": 145}, "tail": {"text": "Birk Barel mental retardation dysmorphism syndrome", "start": 21, "end": 71}}]}}, "schema": []}
{"input": "Mice with EC deletion of BMPR2 develop hypoxia-induced pulmonary hypertension that, in contrast to non-transgenic littermates, does not reverse upon reoxygenation and is associated with reduced PA microvessels and lung EC p53, PGC1α and TFAM, regulators of mitochondrial biogenesis, and mitochondrial DNA.", "output": {"entities": {"gene": [{"text": "TFAM", "start": 237, "end": 241}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, MGMT hypermethylation was found in 5. 7% of normal esophageal smooth muscle tissue, in 20. 0% of esophageal squamous epithelium and in 61. 5% of nonneoplastic Barrett' s mucosa.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 13, "end": 17}], "disease": [{"text": "esophageal", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In vitro exposure of cardiac fibroblasts to hypoxia resulted in transdifferentiation to myofibroblasts (a scarring phenotype), as demonstrated on immunoblots and immunofluorescence by increased expression of smooth muscle actin (SMA), an effect not seen in lung fibroblasts.", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 208, "end": 227}], "disease": [{"text": "scarring", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Matrilysin mRNA was not detected in normal colorectal mucosa from patients with either sporadic or familial adenomas.", "output": {"entities": {"gene": [{"text": "Matrilysin", "start": 0, "end": 10}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Niemann-Pick disease, type C1 (NPC1), which arises from a mutation in the NPC1 gene, is characterized by abnormal cellular storage and transport of cholesterol and other lipids that leads to hepatic disease and progressive neurological impairment.", "output": {"entities": {"gene": [{"text": "NPC1 gene", "start": 74, "end": 83}], "disease": [{"text": "neurological impairment", "start": 223, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of HO-1 by hemin, which is also a substrate attenuates thrombosis in rodent models, however, whether protection is due to HO-1 upregulation or to increased substrate availability is unknown.", "output": {"entities": {"gene": [{"text": "HO", "start": 16, "end": 18}], "disease": [{"text": "thrombosis", "start": 68, "end": 78}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HO", "start": 16, "end": 18}, "tail": {"text": "thrombosis", "start": 68, "end": 78}}]}}, "schema": []}
{"input": "In this paper, we report the identification of a new OATP1B3 mRNA isoform expressed in human colon and lung cancer tissues, which we named cancer-type OATP1B3 (Ct-OATP1B3).", "output": {"entities": {"gene": [{"text": "OATP1B3", "start": 53, "end": 60}], "disease": [{"text": "lung cancer", "start": 103, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OATP1B3", "start": 53, "end": 60}, "tail": {"text": "lung cancer", "start": 103, "end": 114}}]}}, "schema": []}
{"input": "TLR4-mediated inflammation is a key pathogenic event leading to kidney damage and fibrosis in cyclosporine nephrotoxicity.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 0, "end": 4}], "disease": [{"text": "fibrosis", "start": 82, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR4", "start": 0, "end": 4}, "tail": {"text": "fibrosis", "start": 82, "end": 90}}]}}, "schema": []}
{"input": "Because (Lys15, Arg16, Leu27) VIP1-7GRF8-27 (VPAC1 selective) but not Ro25-1553 (VPAC2 selective) inhibited specific 125I-VIP binding to mammary tumor membranes with high affinity, VPAC1 receptors predominate.", "output": {"entities": {"gene": [{"text": "VIP", "start": 30, "end": 33}], "disease": [{"text": "mammary tumor", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "IFNAR (-/-) mice intraperitoneally inoculated twice with BoHV-4-A-IgK-VP2gDtm at different time points developed serum neutralizing antibodies against BTV and showed a strongly reduced viremia and a longer survival time when challenged with a lethal dose of BTV-8.", "output": {"entities": {"gene": [{"text": "IgK", "start": 66, "end": 69}], "disease": [{"text": "viremia", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "ATP or UTP released from hypoxia-treated MDA-MB-231 cells induced HIF-1α expression and LOX secretion by the activation of P2Y2R, and this phenomenon was significantly reduced in P2Y2R-depleted MDA-MB-231 cells.", "output": {"entities": {"gene": [{"text": "LOX", "start": 88, "end": 91}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In this review, we outline the function of PGC-1 coactivators in physiological and pathological conditions as well as the complex interplay of metabolic dysregulation and inflammation in obesity with special focus on skeletal muscle.", "output": {"entities": {"gene": [{"text": "PGC", "start": 43, "end": 46}], "disease": [{"text": "inflammation", "start": 171, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Thus increased expression of OPN may play a deleterious role during streptozotocin-induced diabetic cardiomyopathy with effects on cardiac fibrosis, hypertrophy, and myocyte apoptosis.", "output": {"entities": {"gene": [{"text": "OPN", "start": 29, "end": 32}], "disease": [{"text": "diabetic cardiomyopathy", "start": 91, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPN", "start": 29, "end": 32}, "tail": {"text": "diabetic cardiomyopathy", "start": 91, "end": 114}}]}}, "schema": []}
{"input": "Instead, beta-catenin is involved in N-cadherin-dependent adherence junctions, suggesting for the first time that leukemia-stroma interactions may be mediated via an N-cadherin-dependent mechanism.", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 37, "end": 47}], "disease": [{"text": "leukemia", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The mean +/-SD for 1-6 FucT activity was 78 +/-41 pmol/h/mg in normal control liver, 202 +/-127 pmol/h/mg in adjacent uninvolved liver tissues (chronic hepatitis: 181 +/-106 pmol/h/mg; liver cirrhosis: 233 +/-164 pmol/h/mg), and 195 +/-72 pmol/h/mg in HCC tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 252, "end": 255}], "disease": [{"text": "chronic hepatitis", "start": 144, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "When we looked for those genes progressively modulated through the evolving stages of monoclonal gammopathies, eight snoRNA showed a progressive increase while APAF1, VCAN and MEGF9 exhibited a progressive downregulation.", "output": {"entities": {"gene": [{"text": "VCAN", "start": 167, "end": 171}], "disease": [{"text": "monoclonal gammopathies", "start": 86, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The comparison between the two different populations did not show any significant difference regarding BRCA2 methylation but exhibited a trend in the decrease of BRCA2 promoter methylation in peripheral blood DNA of sporadic ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 103, "end": 108}], "disease": [{"text": "sporadic", "start": 216, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "In summary, we observed a point mutation in the signal peptide-encoding region of a preproPTH gene in one FIH kindred and demonstrated a functional defect caused by the mutation.", "output": {"entities": {"gene": [{"text": "preproPTH", "start": 84, "end": 93}], "disease": [{"text": "FIH", "start": 106, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "preproPTH", "start": 84, "end": 93}, "tail": {"text": "FIH", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "APOBEC3C", "start": 42, "end": 50}], "disease": [{"text": "psychosis", "start": 165, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3C", "start": 42, "end": 50}, "tail": {"text": "psychosis", "start": 165, "end": 174}}]}}, "schema": []}
{"input": "Instead, hypoxia-induced C4. 4A up-regulation promoted in vivo and in vitro wound healing, where increased migration on the C4. 4A ligands laminin-111 and-332 was observed after a transient period of pronounced binding.", "output": {"entities": {"gene": [{"text": "C4. 4A", "start": 124, "end": 130}], "disease": [{"text": "hypoxia", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we conclude that the mutation in the TEAD1 gene is the cause of Sveinsson' s chorioretinal atrophy.", "output": {"entities": {"gene": [{"text": "TEAD1", "start": 48, "end": 53}], "disease": [{"text": "Sveinsson' s chorioretinal atrophy", "start": 75, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TEAD1", "start": 48, "end": 53}, "tail": {"text": "Sveinsson' s chorioretinal atrophy", "start": 75, "end": 109}}]}}, "schema": []}
{"input": "These studies demonstrate that IFN-gamma is essential for control of chronic vascular pathology induced by gammaHV68 and suggest gamma-herpesviruses as candidate etiologic agents for human vasculitis.", "output": {"entities": {"gene": [{"text": "IFN", "start": 31, "end": 34}], "disease": [{"text": "vasculitis", "start": 189, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "These results strongly indicate that CHRNA SNPs confer lung cancer susceptibility in a small subset of Japanese in a smoking-independent manner.", "output": {"entities": {"gene": [{"text": "CHRNA", "start": 37, "end": 42}], "disease": [{"text": "smoking", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Increased expression and activity of 12-lipoxygenase in oxygen-induced ischemic retinopathy and proliferative diabetic retinopathy: implications in retinal neovascularization.", "output": {"entities": {"gene": [{"text": "12-lipoxygenase", "start": 37, "end": 52}], "disease": [{"text": "retinal neovascularization", "start": 148, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "From JAK2-V617F analysis, hemoglobin and hematocrit values were significantly higher and platelet count was lower in JAK2-V617F high allele burden group than JAK2-V617F middle allele burden group.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 5, "end": 9}], "disease": [{"text": "hemoglobin", "start": 26, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "CTL from 20 day PR1 peptide-pulsed lymphocyte cultures showed 89% to 98% HLA-A2. 1-restricted colony inhibition of chronic myeloid leukemia targets.", "output": {"entities": {"gene": [{"text": "PR1", "start": 16, "end": 19}], "disease": [{"text": "chronic myeloid leukemia", "start": 115, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Further, the relation between breast cancer risk and SHBG rs6259 was found to vary by body mass index (weight (kg)/height (m) (2)) (P for interaction = 0. 003).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 53, "end": 57}], "disease": [{"text": "body mass index", "start": 86, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The purpose [corrected] of this study was to investigate the relationship between bipolar disorder and the harm avoidance personality trait (HA), and the genetic contribution of the polymorphic DNA variation T102C in exon 1 of 5-HTR2a (chromosome 13q14-21) in bipolar disorder and HA personality trait.", "output": {"entities": {"gene": [{"text": "HTR2a", "start": 229, "end": 234}], "disease": [{"text": "personality trait", "start": 122, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The cyclin D1, referred to as PRAD-1, has been mapped to the 11q13 region, and its expression has been detected in squamous cell lines and several primary esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 4, "end": 13}], "disease": [{"text": "esophageal", "start": 155, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In autopsied brains from patients with psychosis and substance abuse, change in subcellular distribution of DISC1 is observed.", "output": {"entities": {"gene": [{"text": "DISC1", "start": 108, "end": 113}], "disease": [{"text": "substance abuse", "start": 53, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Data about p53 condition in sporadic colorectal cancer and its impact on clinical features is controversial, and studies regarding N-myc gene in colorectal cancer are limited in number.", "output": {"entities": {"gene": [{"text": "p53", "start": 11, "end": 14}], "disease": [{"text": "sporadic", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Although it did not alter the amino acid sequence, SREBP-1c-3' 322C/G was predictive of highly active antiretroviral therapy-related hyperlipoproteinaemia.", "output": {"entities": {"gene": [{"text": "SREBP-1c", "start": 51, "end": 59}], "disease": [{"text": "hyperlipoproteinaemia", "start": 133, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "RCC4 and 786-O renal cancer cell lines transfected with either an empty vector or functional VHL and incubated in normoxia or hypoxia were examined for miR-210 expression.", "output": {"entities": {"gene": [{"text": "RCC4", "start": 0, "end": 4}], "disease": [{"text": "renal cancer", "start": 15, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "These data could suggest that abnormal myocardial LCFA metabolism seen in HCM patients may be related to abnormality of the CD36 molecule, and that abnormalities of this molecule may be linked to the cause of some types of HCM.", "output": {"entities": {"gene": [{"text": "CD36 molecule", "start": 124, "end": 137}], "disease": [{"text": "abnormalities", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Rs1800697 and rs1800797 in the IL6 gene, rs8192284 in the IL6R gene, and rs4073 in the IL8 gene were not associated with the development of delirium.", "output": {"entities": {"gene": [{"text": "IL8", "start": 87, "end": 90}], "disease": [{"text": "delirium", "start": 140, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL8", "start": 87, "end": 90}, "tail": {"text": "delirium", "start": 140, "end": 148}}]}}, "schema": []}
{"input": "These data are consistent with our previous findings linking NGF and APP signaling and suggest a causal relationship between altered synaptic connectivity, cholinergic tone depression and TrkA signaling deficit, and cognitive and neuromuscular decline in APP (YG/YG) mice.", "output": {"entities": {"gene": [{"text": "NGF", "start": 61, "end": 64}], "disease": [{"text": "depression", "start": 173, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NGF", "start": 61, "end": 64}, "tail": {"text": "depression", "start": 173, "end": 183}}]}}, "schema": []}
{"input": "The LMNA Δ150 progerin transcript has also been found in trace quantities in tissues of healthy people and its implication in' natural' ageing has been proposed.", "output": {"entities": {"gene": [{"text": "progerin", "start": 14, "end": 22}], "disease": [{"text": "ageing", "start": 136, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Recent molecular biological studies have revealed that EPPK is caused by mutations of the keratin 9 gene in sequences mainly encoding the highly conserved 1 A rod domain.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 90, "end": 99}], "disease": [{"text": "EPPK", "start": 55, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 90, "end": 99}, "tail": {"text": "EPPK", "start": 55, "end": 59}}]}}, "schema": []}
{"input": "Therefore, BMP7-Smad4-Id2 signaling may play a significant role in the development of colorectal carcinoma.", "output": {"entities": {"gene": [{"text": "Id2", "start": 22, "end": 25}], "disease": [{"text": "colorectal carcinoma", "start": 86, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "MS was defined as ≥ 3 abnormalities among 6 MSC measures: waist circumference, systolic and/or diastolic blood pressure, fasting insulin, triglycerides, HDL-cholesterol, and fasting and/or 2-h OGTT glucose.", "output": {"entities": {"gene": [{"text": "MSC", "start": 44, "end": 47}], "disease": [{"text": "abnormalities", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), GRB2-associated binding protein 1 (GAB1), S100P, and claudin-4 were significantly lower in PCOS endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated.", "output": {"entities": {"gene": [{"text": "S100P", "start": 149, "end": 154}], "disease": [{"text": "PCOS", "start": 198, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100P", "start": 149, "end": 154}, "tail": {"text": "PCOS", "start": 198, "end": 202}}]}}, "schema": []}
{"input": "Activity (transcription) of the genes for MLH1, MSH2 and p53 in sporadic colorectal tumours with micro-satellite instability.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 48, "end": 52}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Anti-β (2) GPI peptide Abs induced activation of TLR4 and triggered interleukin-1 receptor-associated kinase phosphorylation and NF-κB translocation, promoting VCAM expression on endothelial cells and TNF-α release by monocytes.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 201, "end": 206}], "disease": [{"text": "translocation", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Cell enriched for high VEGFR1 expression showed increased VEGF production, tumor growth, tumor angiogenesis, and osteolysis in vivo.", "output": {"entities": {"gene": [{"text": "VEGFR1", "start": 23, "end": 29}], "disease": [{"text": "osteolysis", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In this report, we identified a solid role for mda-7/IL-24 in invasion inhibition of human melanoma cancer LiBr cells, including decreasing of adhesion and invasion in vitro, blocking cell cycle, down-regulating the expression of ICAM-1, MMP-2/9, CDK1, the phosphorylation of ERK and Akt, NF-κB and AP-1 transcription activity.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 289, "end": 294}], "disease": [{"text": "adhesion", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The expression of HOXA10 was deregulated in endometrial carcinomas and up-regulated by sex hormones.", "output": {"entities": {"gene": [{"text": "HOXA10", "start": 18, "end": 24}], "disease": [{"text": "endometrial carcinomas", "start": 44, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXA10", "start": 18, "end": 24}, "tail": {"text": "endometrial carcinomas", "start": 44, "end": 66}}]}}, "schema": []}
{"input": "This suggested translocation of the abnormally bound VWF from the platelet surface.", "output": {"entities": {"gene": [{"text": "VWF", "start": 53, "end": 56}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.", "output": {"entities": {"gene": [{"text": "myotubularin", "start": 37, "end": 49}], "disease": [{"text": "X-linked myotubular myopathy", "start": 83, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myotubularin", "start": 37, "end": 49}, "tail": {"text": "X-linked myotubular myopathy", "start": 83, "end": 111}}]}}, "schema": []}
{"input": "Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive metabolic disorder, characterized by recurrent painful swelling of long bones, periosteal new bone formation and cortical hyperostosis or intramedullary sclerosis, hyperphosphatemia and low intact fibroblast growth factor 23 (FGF23) protein levels.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 303, "end": 308}], "disease": [{"text": "sclerosis", "start": 230, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "As another new mechanism underlying MSI, overexpression of miR-155 or miR-21 has been shown to downregulate the expression of the MMR genes.", "output": {"entities": {"gene": [{"text": "miR-155", "start": 59, "end": 66}], "disease": [{"text": "MSI", "start": 36, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-155", "start": 59, "end": 66}, "tail": {"text": "MSI", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "This cAMP-dependent Cl (-) conductance detected in homozygous NCC could be due to a residual CFTR activity and may explain the mild phenotypes observed in some (Delta) F508 homozygous patients.", "output": {"entities": {"gene": [{"text": "NCC", "start": 62, "end": 65}], "disease": [{"text": "mild", "start": 127, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We have reported an expanded pool of CD4 (+) CD25 (high) T (reg) cells in patients with chronic lymphatic leukemia (CLL), multiple myeloma (MM) as well as its premalignant precursor monoclonal gammopathy of undetermined significance (MGUS).", "output": {"entities": {"gene": [{"text": "CD25", "start": 45, "end": 49}], "disease": [{"text": "premalignant", "start": 159, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that IL-10 limits the inflammatory hyperalgesia evoked by carrageenin and bradykinin by two mechanisms: inhibition of cytokine production and inhibition of IL-1 beta evoked PGE2 production.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 93, "end": 103}], "disease": [{"text": "hyperalgesia", "start": 54, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 93, "end": 103}, "tail": {"text": "hyperalgesia", "start": 54, "end": 66}}]}}, "schema": []}
{"input": "The IL-4Rα, IL-13, IL-13Rα1, CD14, and CTLA4 polymorphisms were selected as the best model of increased total serum IgE levels in non-atopic and atopic asthma (asthma: accuracy = 0. 4726, CVC = 10/10; atopic asthma: accuracy = 0. 4573, CVC = 10/10).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 12, "end": 17}], "disease": [{"text": "atopic", "start": 134, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "LIF was up-regulated in the hippocampus, cortex and meninges after seizures, and LIFR mRNA was induced in the hippocampus and cortex.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 81, "end": 85}], "disease": [{"text": "seizures", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Moreover, considering the possible role of vitamin D in the inflammation mechanisms, we also aimed at measurement of some inflammatory mediators such as TNF-α, IL-1β, IL4, IL-6, IL10, IL13 and IL17 in inflammatory state in samples obtained from obese persons with and without positive family history of cancer.", "output": {"entities": {"gene": [{"text": "IL4", "start": 167, "end": 170}], "disease": [{"text": "inflammation", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Potential mutation hot spots were confirmed in 15 genes; ADAR, DCAF12L2, GLT1D1, ITGA7, MAP1B, MRGPRX4, PSRC1, RANBP2, RPS6KL1, SNCAIP, TCEAL6, TUBB6, WBP5, VEGFB, and ZBTB2; these were validated in 86 tumors with microsatellite instability.", "output": {"entities": {"gene": [{"text": "RPS6KL1", "start": 119, "end": 126}], "disease": [{"text": "tumors", "start": 202, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Variants in follicle-stimulating hormone receptor gene in infertile Brazilian men and the correlation to FSH serum levels and sperm count.", "output": {"entities": {"gene": [{"text": "follicle-stimulating hormone receptor", "start": 12, "end": 49}], "disease": [{"text": "infertile", "start": 58, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We evaluate whether AAV-mediated gene replacement therapy is able to improve photoreceptor function and survival in retinal degeneration associated with AIPL1 defects.", "output": {"entities": {"gene": [{"text": "AIPL1", "start": 153, "end": 158}], "disease": [{"text": "retinal degeneration", "start": 116, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas.", "output": {"entities": {"gene": [{"text": "AXIN1", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "MPs of Cx3cr1 (-/-) mice that develop MP accumulation on the RPE, photoreceptor degeneration, and increased choroidal neovascularization similarly express high levels of APOE.", "output": {"entities": {"gene": [{"text": "RPE", "start": 61, "end": 64}], "disease": [{"text": "choroidal neovascularization", "start": 108, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Especially, dysfunction of excitatory amino acid transporter type 3 (EAAT3) can lead to seizures.", "output": {"entities": {"gene": [{"text": "EAAT3", "start": 69, "end": 74}], "disease": [{"text": "seizures", "start": 88, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAT3", "start": 69, "end": 74}, "tail": {"text": "seizures", "start": 88, "end": 96}}]}}, "schema": []}
{"input": "To test our hypothesis and to examine these issues, we immunostained 60 specimens entailing normal brain tissues, gliosis, and gliomas (Grade I, II, III, IV) for p53, BCL-2, and hMSH2 protein expression.", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 167, "end": 172}], "disease": [{"text": "gliosis", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In this review we provide a short background on lamin A and its maturation pathway and discuss the current knowledge of how progerin or alterations in the prelamin A processing pathway are thought to influence cell function and contribute to human aging.", "output": {"entities": {"gene": [{"text": "prelamin A", "start": 155, "end": 165}], "disease": [{"text": "aging", "start": 248, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "To investigate the relationship between the expression of FOXM1, CEP55, and HELLS in oropharyngeal squamous cell carcinoma to human papillomavirus (HPV), smoking, and tumor stage.", "output": {"entities": {"gene": [{"text": "FOXM1", "start": 58, "end": 63}], "disease": [{"text": "smoking", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We also studied the effect of NF-kappaB inhibition in human HCC cells exposed to oxidative stress, by infecting HuH7 cells with a recombinant adenovirus carrying mutant IkappaBalpha (mIkappaBalpha).", "output": {"entities": {"gene": [{"text": "HCC", "start": 60, "end": 63}], "disease": [{"text": "adenovirus", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have investigated the extent of amyloid beta protein (Abeta) deposition as cerebral amyloid angiopathy (CAA) or senile plaques (SP) in relationship to OLR1 + 1071 and + 1073 polymorphisms and LRP1 C766T polymorphism in patients with AD There was an increased Abeta40 load as CAA, but not as SP, in frontal cortex of AD patients carrying OLR1 + 1073 CC genotype, compared to those with CT, TT or CT + TT genotypes, but only in those individuals without apolipoprotein (APOE) epsilon4 allele.", "output": {"entities": {"gene": [{"text": "OLR1", "start": 176, "end": 180}], "disease": [{"text": "cerebral amyloid angiopathy", "start": 100, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "BMR adjusted for lean body mass, age and sex (adjBMR) was similar among the three UCP1 gene genotypes of obese subjects (AA n = 90, AG n = 72 or GG n = 8).", "output": {"entities": {"gene": [{"text": "UCP1 gene", "start": 82, "end": 91}], "disease": [{"text": "lean body mass", "start": 17, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "This study shows a role of cPLA (2) & #945; in luminal breast cancer progression, in which the enzyme could represent a novel therapeutic target and a predictive marker.", "output": {"entities": {"gene": [{"text": "cPLA (2", "start": 27, "end": 34}], "disease": [{"text": "breast cancer", "start": 55, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cPLA (2", "start": 27, "end": 34}, "tail": {"text": "breast cancer", "start": 55, "end": 68}}]}}, "schema": []}
{"input": "Moreover, overexpression of SLIT2 in SMMC-7721 cells induced by recombinant adenovirus suppressed cell growth, migration, and invasion, These results suggest that epigenetic inactivation of SLIT2 in HCC may be important in the development and progression of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 199, "end": 202}], "disease": [{"text": "adenovirus", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In contrast to morphologically normal and hyperplastic structures in NRL-PRL females, carcinomas were insensitive to ERα-mediated signals.", "output": {"entities": {"gene": [{"text": "NRL", "start": 69, "end": 72}], "disease": [{"text": "carcinomas", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "α-MD-G-stimulated jejunal NHE3 activity was defective in NHERF2-/-mice and cells with NHERF2 knockdown, but occurred normally with NHERF1 knockdown; was associated with increased NHE3 surface expression in Caco-2 cells, which also was NHERF2-dependent; was associated with dissociation of NHE3 from NHERF2 and an increase in the NHE3 mobile fraction from the brush border; and was accompanied by a NHERF2 ezrin-radixin-moesin-binding domain-dependent increase in co-precipitation of ezrin with NHE3.", "output": {"entities": {"gene": [{"text": "NHE3", "start": 26, "end": 30}], "disease": [{"text": "dissociation", "start": 273, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "These findings further establish GIP to be involved in the regulation of bone density.", "output": {"entities": {"gene": [{"text": "GIP", "start": 33, "end": 36}], "disease": [{"text": "bone density", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "This translocation generates a chimeric transcription factor, EWS-WT1, which consists of the transcriptional activation domain of the Ewing' s sarcoma (EWS) protein and the DNA binding domain of the Wilms' tumor 1 (WT1) protein.", "output": {"entities": {"gene": [{"text": "EWS", "start": 62, "end": 65}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The patient had hypercalcaemia associated with increased calcitriol serum levels; circulating interleukin-6 and tumour necrosis factor alpha levels were also elevated.", "output": {"entities": {"gene": [{"text": "interleukin-6", "start": 94, "end": 107}], "disease": [{"text": "hypercalcaemia", "start": 16, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-6", "start": 94, "end": 107}, "tail": {"text": "hypercalcaemia", "start": 16, "end": 30}}]}}, "schema": []}
{"input": "These findings could have important implications for the molecular diagnosis in patients with isolated SMCP and/or unexplained choanal atresia.", "output": {"entities": {"gene": [{"text": "SMCP", "start": 103, "end": 107}], "disease": [{"text": "choanal atresia", "start": 127, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Top-ranked endophenotypes included the Beck Depression Inventory, bilateral ventral diencephalon volume, and expression levels of the RNF123 transcript.", "output": {"entities": {"gene": [{"text": "RNF123", "start": 134, "end": 140}], "disease": [{"text": "Depression", "start": 44, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNF123", "start": 134, "end": 140}, "tail": {"text": "Depression", "start": 44, "end": 54}}]}}, "schema": []}
{"input": "To validate ENA-78 as a statin target in inflammation typical of ACS, endothelial cells (HUVECs) were treated with IL-1beta and atorvastatin with subsequent quantification of CXCL5 expression and ENA-78 protein concentrations.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 12, "end": 18}], "disease": [{"text": "inflammation", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Reintroduction of SGNE1 into the medulloblastoma cell line D283Med led to a significant growth suppression and reduced colony formation.", "output": {"entities": {"gene": [{"text": "SGNE1", "start": 18, "end": 23}], "disease": [{"text": "medulloblastoma", "start": 33, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SGNE1", "start": 18, "end": 23}, "tail": {"text": "medulloblastoma", "start": 33, "end": 48}}]}}, "schema": []}
{"input": "When the HCT-116 colorectal cancer cells were exposed to heat shock in the presence of cantharidin, the induction of HSF1 downstream target proteins, such as HSP70 and BAG3 (Bcl-2-associated athanogene domain 3), was suppressed.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 158, "end": 163}], "disease": [{"text": "shock", "start": 62, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Several genes and transcripts involved in lipolysis were down-regulated, such as AKAP1, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing obese to lean subjects.", "output": {"entities": {"gene": [{"text": "PRKAR2B", "start": 88, "end": 95}], "disease": [{"text": "obese", "start": 168, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRKAR2B", "start": 88, "end": 95}, "tail": {"text": "obese", "start": 168, "end": 173}}]}}, "schema": []}
{"input": "SRD5A2 is associated with increased cortisol metabolism in schizophrenia spectrum disorders.", "output": {"entities": {"gene": [{"text": "SRD5A2", "start": 0, "end": 6}], "disease": [{"text": "schizophrenia", "start": 59, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRD5A2", "start": 0, "end": 6}, "tail": {"text": "schizophrenia", "start": 59, "end": 72}}]}}, "schema": []}
{"input": "Phosphoprotein enriched in astrocytes of 15 kDa (PEA-15) is known to sequester extracellular signal-regulated kinase (ERK) in the cytoplasm, inhibiting tumorigenesis of human breast cancer cells.", "output": {"entities": {"gene": [{"text": "PEA-15", "start": 49, "end": 55}], "disease": [{"text": "tumorigenesis", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We screened individuals for lumican and fibromodulin sequence alterations from the original MYP3 family, and from a second high grade myopia pedigree that showed suggestive linkage to both the MYP3 interval and to chromosome 1q32.", "output": {"entities": {"gene": [{"text": "fibromodulin", "start": 40, "end": 52}], "disease": [{"text": "myopia", "start": 134, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We report a case of acute sacroiliitis with severe disability after only 3 weeks of isotretinoin therapy with graduate reduction of pain, limitation and muscle incompetence after discontinuation of the drug and ACTH-depo injection and Ethodolac therapy.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 211, "end": 215}], "disease": [{"text": "sacroiliitis", "start": 26, "end": 38}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 211, "end": 215}, "tail": {"text": "sacroiliitis", "start": 26, "end": 38}}]}}, "schema": []}
{"input": "In a secondary analysis of these 6 genes among parent-proband trios with a history of psychosis, evidence of the association with SIAT4A was strengthened.", "output": {"entities": {"gene": [{"text": "SIAT4A", "start": 130, "end": 136}], "disease": [{"text": "psychosis", "start": 86, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIAT4A", "start": 130, "end": 136}, "tail": {"text": "psychosis", "start": 86, "end": 95}}]}}, "schema": []}
{"input": "PTEN/MMAC1 (phosphatase, tensin homologue/mutated in multiple advanced cancers) is a tumor suppressor protein that has sequence homology with dual-specificity phosphatases, which are capable of dephosphorylating both tyrosine phosphate and serine/threonine phosphate residues on proteins.", "output": {"entities": {"gene": [{"text": "tensin", "start": 25, "end": 31}], "disease": [{"text": "cancers", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Finally, AC-73 attenuated progression in an orthotopic nude mouse model of liver metastasis, suggesting that AC-73 or its derivatives have potential for use in HCC intervention.", "output": {"entities": {"gene": [{"text": "HCC", "start": 160, "end": 163}], "disease": [{"text": "liver metastasis", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated whether PKB/Akt in primary sensory neurons is activated after noxious stimulation and contributes to pain behavior induced in rats by capsaicin.", "output": {"entities": {"gene": [{"text": "PKB", "start": 39, "end": 42}], "disease": [{"text": "pain", "start": 132, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PKB", "start": 39, "end": 42}, "tail": {"text": "pain", "start": 132, "end": 136}}]}}, "schema": []}
{"input": "It is possible that genetic variants of the NPY1R gene affect the NPY-NPY receptor type Y1 signaling system in the brain, which may result in susceptibility to methamphetamine dependence or the development of methamphetamine psychosis, but the present findings need to be confirmed on replication.", "output": {"entities": {"gene": [{"text": "NPY1R", "start": 44, "end": 49}], "disease": [{"text": "psychosis", "start": 225, "end": 234}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY1R", "start": 44, "end": 49}, "tail": {"text": "psychosis", "start": 225, "end": 234}}]}}, "schema": []}
{"input": "Functional role of Annexin A1 in tumorigenesis is poorly understood.", "output": {"entities": {"gene": [{"text": "Annexin A1", "start": 19, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "As 25% of sporadic PCCs harbor somatic neurofibromin 1 gene (NF1) mutations, NF1 has been established as the most recurrently mutated gene in PCCs.", "output": {"entities": {"gene": [{"text": "neurofibromin 1 gene", "start": 39, "end": 59}], "disease": [{"text": "sporadic", "start": 10, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Plasma RBP4 was significantly elevated in impaired glucose tolerance/T2DM compared with NGT lean or obese subjects.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 7, "end": 11}], "disease": [{"text": "impaired glucose tolerance", "start": 42, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "CPT1C", "start": 84, "end": 89}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CPT1C", "start": 84, "end": 89}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "Here, we test the hypothesis that delivery of a transactivator of transcription (TAT)-p27 fusion protein (TAT. p27) will improve cardiac function and survival in a rat model of myocardial infarction (MI).", "output": {"entities": {"gene": [{"text": "TAT", "start": 81, "end": 84}], "disease": [{"text": "myocardial infarction", "start": 177, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Pre-treatment with exogenous NPY markedly reduced nasal airway obstruction and rhinorrhea induced by the irritant capsaicin in control subjects.", "output": {"entities": {"gene": [{"text": "NPY", "start": 29, "end": 32}], "disease": [{"text": "nasal airway obstruction", "start": 50, "end": 74}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 29, "end": 32}, "tail": {"text": "nasal airway obstruction", "start": 50, "end": 74}}]}}, "schema": []}
{"input": "In DDX10 and NUP98, the inv (11) breakpoints occurred within two introns of each gene and the two genes merged in-frame to produce the chimeric transcripts characteristic of this translocation.", "output": {"entities": {"gene": [{"text": "DDX10", "start": 3, "end": 8}], "disease": [{"text": "translocation", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "In animal models, v-ATPase mutations perturb the retinal pigment epithelium (RPE) and photoreceptor outer segment (OS) phagocytosis, an event linked to retinal degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 77, "end": 80}], "disease": [{"text": "retinal degeneration", "start": 152, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings indicate that down-regulation of Rap1GAP via promoter hypermethylation promotes melanoma cell proliferation, survival, and migration.", "output": {"entities": {"gene": [{"text": "Rap1GAP", "start": 62, "end": 69}], "disease": [{"text": "melanoma", "start": 109, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rap1GAP", "start": 62, "end": 69}, "tail": {"text": "melanoma", "start": 109, "end": 117}}]}}, "schema": []}
{"input": "Further analysis and data mining for two genes, the Insulin like Growth Factor Binding protein 3, and Retinoic X Receptor alpha, demonstrates an association with prostate cancer, functional pathway links, and protein-protein interactions that make these genes prime candidates for explaining the mechanism of Selenium' s chemopreventive effect in prostate cancer.", "output": {"entities": {"gene": [{"text": "Insulin like Growth Factor Binding protein 3", "start": 52, "end": 96}], "disease": [{"text": "prostate cancer", "start": 162, "end": 177}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Insulin like Growth Factor Binding protein 3", "start": 52, "end": 96}, "tail": {"text": "prostate cancer", "start": 162, "end": 177}}]}}, "schema": []}
{"input": "A chronic administration of ANG-(1-7) increased the plasma ANP level and attenuated isoproterenol-induced cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "ANG", "start": 28, "end": 31}], "disease": [{"text": "cardiac hypertrophy", "start": 106, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "BRCA1-associated cancers showed microlobulated margins in 53. 3% versus 33. 8% (sporadic) and 33. 3% (BRCA2).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 102, "end": 107}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that centrally applied AVP and ANP exert differential effects on blood pressure and baroreflex control of heart rate in WKY and SHR and suggest interaction of these two peptides in blood pressure regulation at the level of central nervous system.", "output": {"entities": {"gene": [{"text": "ANP", "start": 52, "end": 55}], "disease": [{"text": "heart rate", "start": 127, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Using luciferase reporter plasmids in glioma cells, we found that hypoxia dramatically increased luciferase activity in cells with constructs containing Egr-1-binding sites but not in cells with constructs containing AP-1-or NF-kappaB-binding sites.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 217, "end": 221}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, Folbp1 and RFC1 genetically modified mice exhibit distinct changes in colonocyte phenotype and therefore have utility as models to examine the role of folate homeostasis in colon cancer development.", "output": {"entities": {"gene": [{"text": "Folbp1", "start": 15, "end": 21}], "disease": [{"text": "colon cancer", "start": 188, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Folbp1", "start": 15, "end": 21}, "tail": {"text": "colon cancer", "start": 188, "end": 200}}]}}, "schema": []}
{"input": "We evaluated the effect of HSP induction in an in vitro atrial cell line (HL-1) model of tachycardia remodeling and in tachypaced isolated canine atrial cardiomyocytes.", "output": {"entities": {"gene": [{"text": "HL-1", "start": 74, "end": 78}], "disease": [{"text": "tachycardia", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Conditionally replicative adenovirus (CRAd) mediated tumor specific gene therapy based on transcriptional control is considered a new direction for the treatment of cancer.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 38, "end": 42}], "disease": [{"text": "cancer", "start": 165, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Eye anomalies and neurological manifestations in patients with PAX6 mutations.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 63, "end": 67}], "disease": [{"text": "neurological manifestations", "start": 18, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "After the experiment, the lung weight was obtained and lung tissues were taken for the determination of mRNA expression of inducible nitric oxide synthase (iNOS), tumor necrosis factor alpha (TNF-alpha), interleukin-1beta (IL-1beta) and manganese superoxide dismutase (MnSOD).", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 237, "end": 267}], "disease": [{"text": "weight", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Restoring Akt activation in gastric cancer cells largely blocked the inhibition of PI3K/Akt signaling by SHIP2 and reversed the inhibitory effect of SHIP2 on tumorigenesis and proliferation.", "output": {"entities": {"gene": [{"text": "SHIP2", "start": 105, "end": 110}], "disease": [{"text": "tumorigenesis", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "HBsAg inhibits the translocation of JTB into mitochondria in HepG2 cells and potentially plays a role in HCC progression.", "output": {"entities": {"gene": [{"text": "HCC", "start": 105, "end": 108}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Our data further underscore the critical role of IL36RN in pathogenesis of GPP.", "output": {"entities": {"gene": [{"text": "IL36RN", "start": 49, "end": 55}], "disease": [{"text": "GPP", "start": 75, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL36RN", "start": 49, "end": 55}, "tail": {"text": "GPP", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "We aimed to test whether sporadic CGCL of the jaws share the H3F3A mutations reported in GCT of other bones.", "output": {"entities": {"gene": [{"text": "H3F3A", "start": 61, "end": 66}], "disease": [{"text": "sporadic", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "It is reasonable to believe that the main laboratory pathology (APA and/or LA activity) in antiphospholipid syndrome is related to the clinical picture of a hypercoagulable state.", "output": {"entities": {"gene": [{"text": "APA", "start": 64, "end": 67}], "disease": [{"text": "hypercoagulable state", "start": 157, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.", "output": {"entities": {"gene": [{"text": "C2orf37", "start": 95, "end": 102}], "disease": [{"text": "Woodhouse-Sakati syndrome", "start": 28, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C2orf37", "start": 95, "end": 102}, "tail": {"text": "Woodhouse-Sakati syndrome", "start": 28, "end": 53}}]}}, "schema": []}
{"input": "These data support the hypothesis that galanin may have a role in functions related to mood states, including affective disorders.", "output": {"entities": {"gene": [{"text": "galanin", "start": 39, "end": 46}], "disease": [{"text": "affective disorders", "start": 110, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "galanin", "start": 39, "end": 46}, "tail": {"text": "affective disorders", "start": 110, "end": 129}}]}}, "schema": []}
{"input": "IL-19 demonstrated the highest expression in rheumatoid joints, and could thus be involved in the regulation of synovial inflammation in RA.", "output": {"entities": {"gene": [{"text": "IL-19", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In order to assess the role of these genes in sporadic RER + colorectal carcinoma, we have carried out a mutation analysis of MSH2 and MLH1 by two-dimensional (2-D) DNA electrophoresis, including heteroduplexing and separation in a denaturing gradient.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 135, "end": 139}], "disease": [{"text": "colorectal carcinoma", "start": 61, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLH1", "start": 135, "end": 139}, "tail": {"text": "colorectal carcinoma", "start": 61, "end": 81}}]}}, "schema": []}
{"input": "Novel FAM126A mutations in hypomyelination and congenital cataract disease.", "output": {"entities": {"gene": [{"text": "FAM126A", "start": 6, "end": 13}], "disease": [{"text": "hypomyelination and congenital cataract", "start": 27, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM126A", "start": 6, "end": 13}, "tail": {"text": "hypomyelination and congenital cataract", "start": 27, "end": 66}}]}}, "schema": []}
{"input": "While comparing the results, respectively in groups, the mean levels in blood serum were as follows: RANTES 31, 429. 79 pg/ml (from 26, 576. 6-99, 605. 00) vs. 26, 988. 72 pg/ml (from 26, 013. 58-113, 435. 00) for p = 0. 428; CRP and WBC 2. 13 vs. 1. 54 mg/l; p = 0. 076 and 5. 35 vs. 6. 7; p = 0. 029; fibrinogen 3. 12 vs. 2. 57 mg%; p < 0. 001); iron level 87. 20 vs. 78. 01 ug/dl for p = 0. 430, and CA-125 36. 50 vs. 15. 08 U/ml; p < 0. 001).", "output": {"entities": {"gene": [{"text": "RANTES", "start": 101, "end": 107}], "disease": [{"text": "fibrinogen", "start": 303, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the potential role of AHR signaling in the development of left ventricular hypertrophy and cardiac fibrosis by angiotensin II (Ang II) infusion was investigated in mice lacking the AHR gene (Ahr & lt; sup & gt;-/-& lt;/sup & gt;).", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 133, "end": 147}], "disease": [{"text": "left ventricular hypertrophy", "start": 80, "end": 108}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 133, "end": 147}, "tail": {"text": "left ventricular hypertrophy", "start": 80, "end": 108}}]}}, "schema": []}
{"input": "Hence, we have examined whether the NPSR1 A/T polymorphism is associated with alcohol use disorders (AUD) and alcohol use in a population-representative sample.", "output": {"entities": {"gene": [{"text": "NPSR1", "start": 36, "end": 41}], "disease": [{"text": "alcohol use", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 457, "end": 465}], "disease": [{"text": "pale", "start": 275, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "The association with major depression, suicide, and panic disorder of a new functional 5-HT1A polymorphism at C (-1019) G that selectively blocks repression of the 5-HT1A autoreceptor by NUDR further suggests a causative role for altered regulation of this receptor in predisposition to mental illness.", "output": {"entities": {"gene": [{"text": "NUDR", "start": 187, "end": 191}], "disease": [{"text": "major depression", "start": 21, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NUDR", "start": 187, "end": 191}, "tail": {"text": "major depression", "start": 21, "end": 37}}]}}, "schema": []}
{"input": "Three of the infants were healthy after birth, and 1 premature infant, who had an ABCB4 mutation, experienced transient neonatal cholestasis.", "output": {"entities": {"gene": [{"text": "ABCB4", "start": 82, "end": 87}], "disease": [{"text": "neonatal cholestasis", "start": 120, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the incidence of c-myc rearrangements in human plasma cell dyscrasias, sets of probes were generated to allow direct assessment of c-myc translocations on interphase plasma cells by using fluorescence in situ hybridization.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 29, "end": 34}], "disease": [{"text": "plasma cell dyscrasias", "start": 59, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "This study evaluated the incidence of GRTH/DDX25 gene mutations in a group of infertile patients with non-obstructive azoospermia (NOA), 85% with a preponderance of Sertoli cells in the seminiferous tubule and 15% with spermatogenic arrest, and compared them to a group of fertile subjects.", "output": {"entities": {"gene": [{"text": "GRTH", "start": 38, "end": 42}], "disease": [{"text": "infertile", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Intracortical porosities and marrow fibrosis are hallmarks of hyperparathyroidism and are present in bones of transgenic mice expressing constitutively active parathyroid hormone/parathyroid hormone-related protein receptors (PPR * Tg).", "output": {"entities": {"gene": [{"text": "parathyroid hormone", "start": 159, "end": 178}], "disease": [{"text": "fibrosis", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We performed bioinformatics analyses of The Cancer Genome Atlas (TCGA) dataset to evaluate the association between miR-106a and its putative target lipopolysaccharide-induced TNF-& #945; factor (LITAF) in prostate cancer.", "output": {"entities": {"gene": [{"text": "miR-106a", "start": 115, "end": 123}], "disease": [{"text": "prostate cancer", "start": 205, "end": 220}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-106a", "start": 115, "end": 123}, "tail": {"text": "prostate cancer", "start": 205, "end": 220}}]}}, "schema": []}
{"input": "Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.", "output": {"entities": {"gene": [{"text": "troponin T", "start": 36, "end": 46}], "disease": [{"text": "familial dilated cardiomyopathy", "start": 68, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Further, OCL precursors from transgenic mice in which TAF12 expression was targeted to the OCL lineage (tartrate-resistant acid phosphatase [TRAP]-TAF12 mice), formed OCLs at very low levels of 1, 25-(OH) ₂D₃, although the OCLs failed to exhibit other hallmarks of PD OCLs, including receptor activator of NF-κB ligand (RANKL) hypersensitivity and hypermultinucleation.", "output": {"entities": {"gene": [{"text": "TAF12", "start": 54, "end": 59}], "disease": [{"text": "hypersensitivity", "start": 327, "end": 343}]}, "relations": {}}, "schema": []}
{"input": "Western blots revealed overexpression of & #946;-catenin, c-Myc, cyclin D1, inducible nitric oxide synthase and cyclooxygenase-2 in colon tumor samples.", "output": {"entities": {"gene": [{"text": "cyclooxygenase-2", "start": 112, "end": 128}], "disease": [{"text": "colon tumor", "start": 132, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclooxygenase-2", "start": 112, "end": 128}, "tail": {"text": "colon tumor", "start": 132, "end": 143}}]}}, "schema": []}
{"input": "These results suggest that low density of GFAP-IR astrocytes in the PLC of P rats predates the exposure to alcohol and might be a factor contributing to the increased risk for alcohol dependence.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 42, "end": 46}], "disease": [{"text": "alcohol dependence", "start": 176, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GFAP", "start": 42, "end": 46}, "tail": {"text": "alcohol dependence", "start": 176, "end": 194}}]}}, "schema": []}
{"input": "SFN also inhibited the growth of prostate cancer xenografts and spontaneous intestinal polyps in mouse models, with evidence for altered histone acetylation and HDAC activities in vivo.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 161, "end": 165}], "disease": [{"text": "intestinal polyps", "start": 76, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Here, the authors further investigated whether hypobaric hypoxia preconditioning (HHP) improved the MODS in heatstroke by up-regulation of HSP70.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 139, "end": 144}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "However, GH plus IGF-I (but not either agent alone) induced a 25% decrease in the relative weight of inguinal fat.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 17, "end": 22}], "disease": [{"text": "weight", "start": 91, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Possible effect of gene polymorphisms on the release of TNF & #945; and IL1 cytokines in coal workers' pneumoconiosis.", "output": {"entities": {"gene": [{"text": "IL1", "start": 72, "end": 75}], "disease": [{"text": "coal workers' pneumoconiosis", "start": 89, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL1", "start": 72, "end": 75}, "tail": {"text": "coal workers' pneumoconiosis", "start": 89, "end": 117}}]}}, "schema": []}
{"input": "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.", "output": {"entities": {"gene": [{"text": "TBX5", "start": 45, "end": 49}], "disease": [{"text": "Holt-Oram syndrome", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX5", "start": 45, "end": 49}, "tail": {"text": "Holt-Oram syndrome", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "The aim of this study was to determine the prevalence of C-482T/T-455C variants in the Apolipoprotein C3 (APOC3) promoter gene and Human leukocyte antigen (HLA)-B * 57: 01, known to impact lipid metabolic disorders and hypersensitivity respectively; and to correlate genotypes with gender, CD4 + cell count and viral load in an HIV infected cohort in northern South Africa.", "output": {"entities": {"gene": [{"text": "APOC3", "start": 106, "end": 111}], "disease": [{"text": "viral load", "start": 311, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of matrilysin mRNA in sporadic and hereditary colorectal adenomas to clarify the role of matrilysin in tumorigenesis.", "output": {"entities": {"gene": [{"text": "matrilysin", "start": 30, "end": 40}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Disruption of the C5a receptor gene increases resistance to acute Gram-negative bacteremia and endotoxic shock: opposing roles of C3a and C5a.", "output": {"entities": {"gene": [{"text": "C5a", "start": 18, "end": 21}], "disease": [{"text": "endotoxic shock", "start": 95, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5a", "start": 18, "end": 21}, "tail": {"text": "endotoxic shock", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "We examined the effects of wild-type and mutant atlastin-1 on vesicle transport in the endoplasmic reticulum (ER)-Golgi interface and vesicle budding from ER-derived microsomes using the temperature-sensitive reporter vesicular stomatitis virus glycoprotein (VSV-G), and the ability of purified atlastin-1 to form tubules or vesicles from protein-free phosphatidylserine liposomes.", "output": {"entities": {"gene": [{"text": "atlastin", "start": 48, "end": 56}], "disease": [{"text": "stomatitis", "start": 228, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "In a recent analysis of myelodysplastic syndromes (MDS) associated with deletion of chromosome 5q, we observed that an ALC < 1. 2x 10 (9) cells/L at diagnosis is independently associated with poorer survival.", "output": {"entities": {"gene": [{"text": "ALC", "start": 119, "end": 122}], "disease": [{"text": "myelodysplastic syndromes", "start": 24, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The present study examined the phenotypic and genetic association between borderline personality and FFM personality traits.", "output": {"entities": {"gene": [{"text": "FFM", "start": 101, "end": 104}], "disease": [{"text": "borderline personality", "start": 74, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The molecular defect of uroporphyrinogen decarboxylase (UROD) was examined in a patient with mild hepatoerythropoietic porphyria.", "output": {"entities": {"gene": [{"text": "UROD", "start": 56, "end": 60}], "disease": [{"text": "mild", "start": 93, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In this study, 67 sporadic CRC and eight samples of normal bowel were analysed for MSI status (by SSCP) and levels of MLH1, MSH2 and p53 gene transcription (by RT-PCR and scanning densitometry).", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 133, "end": 141}], "disease": [{"text": "sporadic", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Data show that GRS is able to discriminate diffused forms of periodontitis from localized ones.", "output": {"entities": {"gene": [{"text": "GRS", "start": 15, "end": 18}], "disease": [{"text": "periodontitis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In this study, SPAST and ATL1 mutations were screened in 36 unrelated HSP patients (17 probands with AD family history and 19 sporadic HSP patients) by direct sequencing and multiplex ligation dependent probe amplification (MLPA).", "output": {"entities": {"gene": [{"text": "ATL1", "start": 25, "end": 29}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Nine patients (3. 2%) had active B19 infection with positive IgM antibody, with four diagnosed as having idiopathic thrombocytopenic purpura (ITP).", "output": {"entities": {"gene": [{"text": "B19", "start": 33, "end": 36}], "disease": [{"text": "idiopathic thrombocytopenic purpura", "start": 105, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Here we investigated whether astrocytic contents of the major glutamate degrading enzymes glutamine synthetase (GS) and glutamate dehydrogenase (GDH) decreases on moving from the latent phase (prior to seizures) to the chronic phase (after onset of seizures) in the kainate (KA) model of temporal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "GDH", "start": 145, "end": 148}], "disease": [{"text": "seizures", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "An analysis of human cancers showed that PHGDH is recurrently amplified in a genomic region of focal copy number gain most commonly found in melanoma.", "output": {"entities": {"gene": [{"text": "PHGDH", "start": 41, "end": 46}], "disease": [{"text": "melanoma", "start": 141, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PHGDH", "start": 41, "end": 46}, "tail": {"text": "melanoma", "start": 141, "end": 149}}]}}, "schema": []}
{"input": "The roles of ASS1 in tumorigenesis and the therapeutic relevance of the arginine-depriving agent pegylated arginine deiminase (ADI-PEG20) were elucidated in ASS1-deficient myxofibrosarcoma cell lines and xenografts with and without stable ASS1 reexpression.", "output": {"entities": {"gene": [{"text": "ASS1", "start": 13, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Fifty GAS isolates cultured from throats of north Indian children aged 5-15 yr with mild pharyngitis (20), severe pharyngitis (24) and asymptomatic pharyngeal carriers (6), during 2000-2003 along with reference M1 strain were emm typed and characterized for virulence factors genes by PCR.", "output": {"entities": {"gene": [{"text": "GAS", "start": 6, "end": 9}], "disease": [{"text": "asymptomatic", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique.", "output": {"entities": {"gene": [{"text": "RB1", "start": 4, "end": 7}], "disease": [{"text": "retinoblastoma", "start": 27, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 4, "end": 7}, "tail": {"text": "retinoblastoma", "start": 27, "end": 41}}]}}, "schema": []}
{"input": "These results support the possibility that variation in the 3' untranslated region of LPL affects LPL expression and activity, consequently influencing risk of atherosclerosis and insulin resistance, and provides important tools for further dissection of LPL regulation.", "output": {"entities": {"gene": [{"text": "LPL", "start": 86, "end": 89}], "disease": [{"text": "insulin resistance", "start": 180, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Frequencies of methylated RASSF1A, CDH13, CACNA1A, HIN-1, and sFRP5 genes in OCCA tissues were significantly higher than those in non-OCCA cancerous tissues and benign endometriotic cysts.", "output": {"entities": {"gene": [{"text": "HIN-1", "start": 51, "end": 56}], "disease": [{"text": "cysts", "start": 182, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "A longitudinal study was conducted to evaluate the association of the SDF1 polymorphism and the progression of HIV-1 infection in 161 asymptomatic patients infected with HIV-1 (ASYMPT) and 617 patients with AIDS (SYMPT) from Londrina and the surrounding region, southern Brazil.", "output": {"entities": {"gene": [{"text": "SDF1", "start": 70, "end": 74}], "disease": [{"text": "asymptomatic", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression of ten housekeeping genes (ACTB, ARF1, CANX, G6PD, GAPDH, GPS1, GNB2L1, PSMB2, PSMD2, RPL32) was investigated by qRT-PCR in BAL cells from 71 subjects across a spectrum of lung diseases.", "output": {"entities": {"gene": [{"text": "CANX", "start": 59, "end": 63}], "disease": [{"text": "lung diseases", "start": 192, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "The drug product TPI ASM8 contains two modified phosphorothioate antisense oligonucleotides designed to inhibit allergic inflammation by down-regulating human CCR3 and the common beta chain (beta (c)) of IL-3, IL-5, and granulocyte-macrophage colony-stimulating factor receptors.", "output": {"entities": {"gene": [{"text": "common beta chain", "start": 172, "end": 189}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In all, 141 men were grouped into fertile men (n = 60) and infertile OAT men (n = 81).", "output": {"entities": {"gene": [{"text": "OAT", "start": 69, "end": 72}], "disease": [{"text": "infertile", "start": 59, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Here, we hypothesized that inhibition of one or several specific HDAC isoforms by selective HDAC inhibitors could potently induce EBV lytic cycle in EBV-associated malignancies such as nasopharyngeal carcinoma (NPC) and gastric carcinoma (GC).", "output": {"entities": {"gene": [{"text": "HDAC", "start": 65, "end": 69}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 185, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "This study analysed 12 single-nucleotide polymorphisms (SNPs) in selenoprotein genes [glutathione peroxidase 1 (GPX1), GPX4, 15 kDa selenoprotein (SEP15), selenoprotein S (SELS), selenoprotein P (SEPP1) and thioredoxin reductase 2 (TXNRD2)] and in genes that code for a key protein in Se incorporation [SECIS-binding protein 2 (SBP2)] and in antioxidant defence [superoxide dismutase 2 (SOD2)] in relation to sporadic CRC incidence.", "output": {"entities": {"gene": [{"text": "SEPP1", "start": 196, "end": 201}], "disease": [{"text": "sporadic", "start": 409, "end": 417}]}, "relations": {}}, "schema": []}
{"input": "SHIP2 knockout mice were originally reported to show lethal neonatal hypoglycemia resulting from insulin hypersensitivity, but in addition to inactivating the SHIP2 gene, the Phox2a gene was also inadvertently deleted.", "output": {"entities": {"gene": [{"text": "Phox2a gene", "start": 175, "end": 186}], "disease": [{"text": "hypersensitivity", "start": 105, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Here we have identified XPF mRNA mutations and examined levels of the mRNA and protein expression in seven primary cell strains from Japanese XP-F patients.", "output": {"entities": {"gene": [{"text": "XPF", "start": 24, "end": 27}], "disease": [{"text": "XP-F", "start": 142, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XPF", "start": 24, "end": 27}, "tail": {"text": "XP-F", "start": 142, "end": 146}}]}}, "schema": []}
{"input": "Chronic alcohol intake led to elevated AST-, ALT-levels, bilirubin, AST/ALT ratio, cholesterol, hepatic triglycerides and hepatic fat deposition as evidenced by H & E and Oil Red O staining.", "output": {"entities": {"gene": [{"text": "AST", "start": 39, "end": 42}], "disease": [{"text": "alcohol intake", "start": 8, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "In this report, we identified a solid role for mda-7/IL-24 in invasion inhibition of human melanoma cancer LiBr cells, including decreasing of adhesion and invasion in vitro, blocking cell cycle, down-regulating the expression of ICAM-1, MMP-2/9, CDK1, the phosphorylation of ERK and Akt, NF-κB and AP-1 transcription activity.", "output": {"entities": {"gene": [{"text": "CDK1", "start": 247, "end": 251}], "disease": [{"text": "adhesion", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Primary pulmonary myxoid sarcomas with EWSR1-CREB1 translocation might originate from primitive peribronchial mesenchymal cells undergoing (myo) fibroblastic differentiation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 39, "end": 44}], "disease": [{"text": "translocation", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The analysis of covariance revealed that CYBA risk alleles and their haplotypes, rs8854A/rs9932581G/rs4873C and rs8854G/rs9932581G/rs4873C, were positively correlated with clinical parameters, for example, systolic blood pressure (SBP), diastolic blood pressure (DBP) and mean arterial pressure (MAP), and biochemical parameters, for example, 8-isoPGF2α level, and inversely correlated with catalase activity in patients compared with controls (P ⩽ 0. 01, each).", "output": {"entities": {"gene": [{"text": "DBP", "start": 263, "end": 266}], "disease": [{"text": "systolic blood pressure", "start": 206, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Using 38 interactors as candidates, linkage and sequencing analysis of 250 patients identified ATXN10 and TCTN2 as new NPHP-JBTS genes, and our Tctn2 mouse knockout shows neural tube and Hedgehog signaling defects.", "output": {"entities": {"gene": [{"text": "ATXN10", "start": 95, "end": 101}], "disease": [{"text": "NPHP", "start": 119, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATXN10", "start": 95, "end": 101}, "tail": {"text": "NPHP", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "Moreover, the effects of GT-094 on Sp1, Sp3, Sp4, miR-27a, and ZBTB10 were also inhibited by glutathione suggesting that the anticancer activity of GT-094 in colon cancer cells is due, in part, to activation of an ROS-miR-27a: ZBTB10-Sp transcription factor pathway.", "output": {"entities": {"gene": [{"text": "ZBTB10", "start": 63, "end": 69}], "disease": [{"text": "colon cancer", "start": 158, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that doxycycline significantly delays aneurysm rupture in MFS-like mice by inhibiting expression of tissue MMP-2 and MMP-9 and thus, degradation of the elastic matrix.", "output": {"entities": {"gene": [{"text": "MMP-2", "start": 131, "end": 136}], "disease": [{"text": "MFS", "start": 82, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-2", "start": 131, "end": 136}, "tail": {"text": "MFS", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "Mutations of SNPs (rs2075596, rs2239464) of MeCP2 showed increased risk of developing SLE.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 44, "end": 49}], "disease": [{"text": "SLE", "start": 86, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MeCP2", "start": 44, "end": 49}, "tail": {"text": "SLE", "start": 86, "end": 89}}]}}, "schema": []}
{"input": "We examined 14 Japanese patients with sporadic LGMD for calpain 3 mutations, and found four mutations in five patients.", "output": {"entities": {"gene": [{"text": "calpain 3", "start": 56, "end": 65}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas.", "output": {"entities": {"gene": [{"text": "DUX4", "start": 368, "end": 372}], "disease": [{"text": "translocation", "start": 373, "end": 386}]}, "relations": {}}, "schema": []}
{"input": "We found a monotone positive significant correlation between the newborn' s risk of childhood obesity and the mother' s TST (P = 0. 01), as well as a tendency toward statistical significance concerning correlation with mother' s MUAC (P = 0. 053), without any correlations with the mothers' bioimpedance parameters and also a positive correlation between the newborn' s risk of childhood obesity and the newborn' s anthropometrical characteristics like body mass index (BMI), MUAC, and TST (P < 0. 001).", "output": {"entities": {"gene": [{"text": "TST", "start": 120, "end": 123}], "disease": [{"text": "body mass index", "start": 453, "end": 468}]}, "relations": {}}, "schema": []}
{"input": "In sarcoidosis, IL-12R was expressed both on CD4 + ve and CD8 + ve cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 45, "end": 48}], "disease": [{"text": "sarcoidosis", "start": 3, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS/INTERPRETATION: SNP in the TCF7L2 gene are associated with differences in insulin secretion, blood pressure, blood lipids and coagulation in MetS patients, and may be modulated by SFA in plasma or IR.", "output": {"entities": {"gene": [{"text": "TCF7L2 gene", "start": 39, "end": 50}], "disease": [{"text": "blood pressure", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "MUC1 and MUC2 mucin expression was examined in biopsy specimens from 80 patients that comprised 23 laryngeal dysplasias, 36 laryngeal carcinomas, and 21 normal larynx control specimens.", "output": {"entities": {"gene": [{"text": "MUC2", "start": 9, "end": 13}], "disease": [{"text": "larynx", "start": 160, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the PINK1 gene have been shown to cause autosomal recessive Parkinson' s disease (PD) and/or early onset sporadic PD in Italy, Spain, North America, Ireland, and Asia.", "output": {"entities": {"gene": [{"text": "PINK1 gene", "start": 17, "end": 27}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) for analysis of CCND1 copy number changes was applied on a collection of 1 006 ovarian tumors--468 malignant, 48 with low malignant potency, and 490 benign tumors--arranged in tissue microarray.", "output": {"entities": {"gene": [{"text": "FISH", "start": 36, "end": 40}], "disease": [{"text": "benign tumors", "start": 191, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "We mapped PAH-related signaling pathways, including estrogen receptor, liver X factor/retinoic X receptor, transforming growth factor-β (Smads), and hypoxia (hypoxia response element), that regulated levels of all pri-miR stem loop transcription and resulting microRNA expression.", "output": {"entities": {"gene": [{"text": "X receptor", "start": 95, "end": 105}], "disease": [{"text": "hypoxia", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Removal of the Ca2 + by a chelator, BAPTA-AM, efficiently inhibited Cd-induced necrosis.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 15, "end": 18}], "disease": [{"text": "necrosis", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We have examined polymorphisms at two non-major histocompatibility complex candidate susceptibility loci in sporadic (non-APS1) AAD: the cytotoxic T lymphocyte antigen-4 (CTLA-4) gene and the autoimmune regulator (AIRE-1) gene.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 171, "end": 177}], "disease": [{"text": "sporadic", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Given the role of GAP-43 in the establishment and reorganization of synaptic connections, the finding of selective reduction of this protein in prefrontal cortex suggests that a dysfunctional synaptic organization in this region may be associated with depression and suicidal behaviour.", "output": {"entities": {"gene": [{"text": "GAP-43", "start": 18, "end": 24}], "disease": [{"text": "depression", "start": 252, "end": 262}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAP-43", "start": 18, "end": 24}, "tail": {"text": "depression", "start": 252, "end": 262}}]}}, "schema": []}
{"input": "To test the hypothesis that MSCs alone or endothelial nitric oxide synthase (eNOS)-modified MSCs can be used for treatment of erectile dysfunction (ED), syngeneic rat MSCs (rMSCs) were isolated, ex vivo expanded, transduced with adenovirus containing eNOS, and injected into the penis of aged rats.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 42, "end": 75}], "disease": [{"text": "erectile dysfunction", "start": 126, "end": 146}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "endothelial nitric oxide synthase", "start": 42, "end": 75}, "tail": {"text": "erectile dysfunction", "start": 126, "end": 146}}]}}, "schema": []}
{"input": "Possibly, a subpopulation of NIDDM patients exists displaying variation in the GLUT-4 gene.", "output": {"entities": {"gene": [{"text": "GLUT-4", "start": 79, "end": 85}], "disease": [{"text": "NIDDM", "start": 29, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT-4", "start": 79, "end": 85}, "tail": {"text": "NIDDM", "start": 29, "end": 34}}]}}, "schema": []}
{"input": "Thus, BCR-ABL1 or FLT3/ITD induces c-MYC expression, leading to genomic instability via augmented expression of ALT-NHEJ repair factors that generate repair errors.", "output": {"entities": {"gene": [{"text": "BCR", "start": 6, "end": 9}], "disease": [{"text": "genomic instability", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Therefore, using the lithium-pilocarpine status epilepticus model, we performed a detailed in situ hybridization time-course study of five gp130 cytokines (interleukin [IL]-6, leukemia inhibitory factor [LIF], IL-11, oncostatin-m [OSM], and ciliary neurotrophic factor), gp130, and the receptors of the cytokines we found to be induced (IL-6 receptor [IL-6R], LIF receptor [LIF-R], and IL-11 receptor [IL-11R]).", "output": {"entities": {"gene": [{"text": "LIF", "start": 204, "end": 207}], "disease": [{"text": "status epilepticus", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Thus, the PLTP gene is highly expressed in alveolar type II epithelial cells and is induced during hypoxia and in emphysema.", "output": {"entities": {"gene": [{"text": "PLTP gene", "start": 10, "end": 19}], "disease": [{"text": "hypoxia", "start": 99, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "To evaluate thyroid structure and function in patients with enlargement of the vestibular aqueduct (EVA) and sensorineural hearing loss.", "output": {"entities": {"gene": [{"text": "EVA", "start": 100, "end": 103}], "disease": [{"text": "enlargement", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We have previously demonstrated reduced expression of GABA (B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder.", "output": {"entities": {"gene": [{"text": "GABBR2", "start": 101, "end": 107}], "disease": [{"text": "major depressive disorder", "start": 187, "end": 212}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABBR2", "start": 101, "end": 107}, "tail": {"text": "major depressive disorder", "start": 187, "end": 212}}]}}, "schema": []}
{"input": "The translocation results in the fusion of two genes, collagen type I alpha 1 (COL1A1) and platelet-derived growth factor B-chain (PDGFB).", "output": {"entities": {"gene": [{"text": "factor B", "start": 115, "end": 123}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 13, "end": 17}], "disease": [{"text": "depression", "start": 107, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF3", "start": 13, "end": 17}, "tail": {"text": "depression", "start": 107, "end": 117}}]}}, "schema": []}
{"input": "FSH receptor gene polymorphisms in fertile and infertile Italian men.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 0, "end": 12}], "disease": [{"text": "infertile", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Our data add new variants to the repertoire of ADAR mutations in DSH.", "output": {"entities": {"gene": [{"text": "ADAR", "start": 47, "end": 51}], "disease": [{"text": "DSH", "start": 65, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADAR", "start": 47, "end": 51}, "tail": {"text": "DSH", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "Infection of C3H IL-10 (-/-) mice led to increased joint swelling and arthritis severity scores over those of wild-type C3H mice.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 17, "end": 22}], "disease": [{"text": "joint swelling", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The close association of neurofibromatosis type 1 (NF1) with gliomas raises the question of whether the NF1 gene may be involved in the pathogenesis of sporadic astrocytic brain tumors.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 104, "end": 112}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Although both wt-LPL-EGFP and 5A7A-LPL-EGFP were targeted to, and promote the formation of, vinculin-containing adhesion sites, static adhesion to either Matrigel or isolated extracellular matrix molecules was neither influenced by expression of wt-LPL-EGFP nor by expression of 5A7A-LPL-EGFP when compared with EGFP expressing control cells.", "output": {"entities": {"gene": [{"text": "LPL", "start": 17, "end": 20}], "disease": [{"text": "adhesion", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of amphiregulin on histological sections obtained from 40 subjects with asthma and 6 healthy control subjects were estimated by immunohistochemical staining, and the correlation with the number of goblet cells was studied.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 25, "end": 37}], "disease": [{"text": "asthma", "start": 94, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "amphiregulin", "start": 25, "end": 37}, "tail": {"text": "asthma", "start": 94, "end": 100}}]}}, "schema": []}
{"input": "The hNOG mice showed marked, long-lasting viremia after infection with both CCR5-and CXCR4-tropic HIV-1 isolates for more than the 40 days examined, with R5 virus-infected animals showing high levels of HIV-DNA copies in the spleen and bone marrow, and X4 virus-infected animals showing high levels of HIV-DNA copies in the thymus and spleen.", "output": {"entities": {"gene": [{"text": "CXCR4", "start": 85, "end": 90}], "disease": [{"text": "viremia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Relative to untreated participants, those with drug-resistant viremia had 29% fewer activated CD4 (P = 0. 051) and CD8 (P = 0. 012) T cells after adjustment for plasma HIV RNA levels among other factors.", "output": {"entities": {"gene": [{"text": "CD4", "start": 94, "end": 97}], "disease": [{"text": "viremia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These results established a detailed molecular mechanism that underlies the ability of SKI to cause cellular transformation while unraveling a novel connection between sumoylation and tumorigenesis, providing potential new therapeutic targets for cancer.", "output": {"entities": {"gene": [{"text": "SKI", "start": 87, "end": 90}], "disease": [{"text": "tumorigenesis", "start": 184, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Focusing on apoptosis, proliferation, hormone and angiogenesis, we found a group of genes such as thioredoxin domain containing 5, tumor necrosis factor receptor superfamily, member 10a, ribosomal protein S19 and Janus kinase 2 upregulated in AI prostate cancer, could play important roles in the transition from AD to AI and could be biomarkers of prognosis.", "output": {"entities": {"gene": [{"text": "thioredoxin domain containing 5", "start": 98, "end": 129}], "disease": [{"text": "prostate cancer", "start": 246, "end": 261}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thioredoxin domain containing 5", "start": 98, "end": 129}, "tail": {"text": "prostate cancer", "start": 246, "end": 261}}]}}, "schema": []}
{"input": "To explore the biological significance of Cyr61 in HCC development, over-expression of this gene was established in HCC cell lines and its effects on cell proliferation, adhesion, migration and invasion were analyzed in this study.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 42, "end": 47}], "disease": [{"text": "adhesion", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma.", "output": {"entities": {"gene": [{"text": "MAF", "start": 31, "end": 34}], "disease": [{"text": "pulverulent cataract", "start": 44, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAF", "start": 31, "end": 34}, "tail": {"text": "pulverulent cataract", "start": 44, "end": 64}}]}}, "schema": []}
{"input": "Although the importance of c-erbB-2 gene copy number seemed to be inferior to that of the histologic grade, both were shown to be strongly associated with the aggressiveness of the tumor itself rather than the extent of tumor spread.", "output": {"entities": {"gene": [{"text": "c-erbB-2 gene", "start": 27, "end": 40}], "disease": [{"text": "aggressiveness", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The 8. 1 haplotype (from genotypic analyses) is associated with lower risk than the high-risk DR3-B18-A30 haplotype (p = 0. 01, OR = 0. 23), but the DR3-B18-A30 haplotype did not differ from other non-8. 1 DR3 haplotypes relative to diabetes association.", "output": {"entities": {"gene": [{"text": "B18", "start": 98, "end": 101}], "disease": [{"text": "diabetes", "start": 233, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Cells in which WASF3 has been knocked down show no response to hypoxia as expected, implicating the specificity of the hypoxic response to WASF3.", "output": {"entities": {"gene": [{"text": "WASF3", "start": 15, "end": 20}], "disease": [{"text": "hypoxic", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We suggest that EXOSC3 mutations may present not only as pontocerebellar hypoplasia type 1, but also as a complicated form of hereditary spastic paraplegia without pontine hypoplasia or atrophy.", "output": {"entities": {"gene": [{"text": "EXOSC3", "start": 16, "end": 22}], "disease": [{"text": "hereditary spastic paraplegia", "start": 126, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "liver cancer", "start": 201, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "liver cancer", "start": 201, "end": 213}}]}}, "schema": []}
{"input": "Cyr61 is a secreted, cysteine-rich, heparin-binding protein that mediates diverse functions including extracellular matrix formation, differentiation, cell proliferation, adhesion, migration, survival, as well as angiogenesis and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 230, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "We measured CRBN expression prior to therapy initiation by real-time polymerase chain reaction in 46 bone marrow (BM) aspiration samples of patients and controls.", "output": {"entities": {"gene": [{"text": "CRBN", "start": 12, "end": 16}], "disease": [{"text": "aspiration", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.", "output": {"entities": {"gene": [{"text": "COL11A1", "start": 61, "end": 68}], "disease": [{"text": "Stickler syndrome type 2", "start": 14, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL11A1", "start": 61, "end": 68}, "tail": {"text": "Stickler syndrome type 2", "start": 14, "end": 38}}]}}, "schema": []}
{"input": "Genes such as ELTD1 on chromosome 1, in addition to genes on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated with the genetic risk for cannabis use disorders.", "output": {"entities": {"gene": [{"text": "ELTD1", "start": 14, "end": 19}], "disease": [{"text": "cannabis use", "start": 150, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ELTD1", "start": 14, "end": 19}, "tail": {"text": "cannabis use", "start": 150, "end": 162}}]}}, "schema": []}
{"input": "Cholelithiasis and choledocholithiasis after sequential cytarabine and asparaginase.", "output": {"entities": {"gene": [{"text": "asparaginase", "start": 71, "end": 83}], "disease": [{"text": "choledocholithiasis", "start": 19, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "asparaginase", "start": 71, "end": 83}, "tail": {"text": "choledocholithiasis", "start": 19, "end": 38}}]}}, "schema": []}
{"input": "We have previously shown that PROKR1 and PROKR2 are associated with recurrent miscarriage (RM) using the tag-SNP method.", "output": {"entities": {"gene": [{"text": "PROKR2", "start": 41, "end": 47}], "disease": [{"text": "recurrent miscarriage", "start": 68, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have explored the role of RhoE expression in gastric cancer, cell invasion and metastasis, and the influence of RhoE on regulating the potential expression of down-stream genes.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 51, "end": 55}], "disease": [{"text": "gastric cancer", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.", "output": {"entities": {"gene": [{"text": "MKP3", "start": 72, "end": 76}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MKP3", "start": 72, "end": 76}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "Several genes previously unknown for autoimmune uveitis, including IL-22, IL-19, IL-20, and IL-25/IL-17E, were found to be highly expressed among uveitis patients compared with the normal subjects with IL-22 expression highly variable among the patients.", "output": {"entities": {"gene": [{"text": "IL-17E", "start": 98, "end": 104}], "disease": [{"text": "uveitis", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Studies in animal models have demonstrated that the protease ADAMTS7 plays a role in neointima formation after arterial mechanical injury, by facilitating vascular smooth muscle cell (VSMC) migration.", "output": {"entities": {"gene": [{"text": "ADAMTS7", "start": 61, "end": 68}], "disease": [{"text": "neointima formation", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "A microdeletion at Xq22. 2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.", "output": {"entities": {"gene": [{"text": "GLRA4", "start": 57, "end": 62}], "disease": [{"text": "behavioral problems", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "HOXD12", "start": 190, "end": 196}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXD12", "start": 190, "end": 196}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "Expression of ras and myc oncogenes in human hepatocellular carcinoma and non-neoplastic liver tissues.", "output": {"entities": {"gene": [{"text": "myc oncogenes", "start": 22, "end": 35}], "disease": [{"text": "non-neoplastic", "start": 74, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Higher SF-PTX3 levels were found when tested closer to arthritis exacerbation and 48-72 h after in vitro stimulation of cells from a synovial cell line, implying that PTX3 plays a role in early stages of inflammation.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 10, "end": 14}], "disease": [{"text": "inflammation", "start": 204, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Thicker walls in the proximal airways were associated with clinical features that may represent a bronchitic phenotype (MRC Bronchitis Score; β = 0. 20, p = 0. 003, Frequent Exacerbations; β = 0. 14, p = 0. 017, Total St George' s Score; β = 0. 50, p = 0. 001 and body mass index [BMI]; β = 0. 26, p = 0. 049); these associations were independent of emphysema.", "output": {"entities": {"gene": [{"text": "MRC", "start": 120, "end": 123}], "disease": [{"text": "body mass index", "start": 264, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "The end-stage/senescent CD8 (+) CD45RA (+) CD27 (-) T-cell subset increases significantly during ageing and this is exaggerated in CMV immune-responsive subjects.", "output": {"entities": {"gene": [{"text": "CD8", "start": 24, "end": 27}], "disease": [{"text": "ageing", "start": 97, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarray analysis of primary Hodgkin lymphomas displayed that 82% cases (95/116) expressed cFLIP in Reed-Sternberg cells.", "output": {"entities": {"gene": [{"text": "cFLIP", "start": 100, "end": 105}], "disease": [{"text": "Hodgkin lymphomas", "start": 38, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cFLIP", "start": 100, "end": 105}, "tail": {"text": "Hodgkin lymphomas", "start": 38, "end": 55}}]}}, "schema": []}
{"input": "A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.", "output": {"entities": {"gene": [{"text": "IFIH1", "start": 11, "end": 16}], "disease": [{"text": "Singleton-Merten syndrome", "start": 50, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFIH1", "start": 11, "end": 16}, "tail": {"text": "Singleton-Merten syndrome", "start": 50, "end": 75}}]}}, "schema": []}
{"input": "We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 18, "end": 23}], "disease": [{"text": "breast cancer", "start": 64, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 18, "end": 23}, "tail": {"text": "breast cancer", "start": 64, "end": 77}}]}}, "schema": []}
{"input": "Prospective analysis of 1377 young adults with 6-year follow-up indicated that SHBG is also associated with future insulin resistance.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 79, "end": 83}], "disease": [{"text": "insulin resistance", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The initial study found that urine concentrations of the metabolites 1, 2-dihydroxy-4-(acetyl) butane (M1) and 1-dihydroxy-2-(N-acetylcysteinyl)-3-butene (M2) and blood concentrations of the hemoglobin adducts N-[2-hydroxy-3-butenyl] valine (HB-Val) and N-[2, 3, 4-trihydroxy-butyl] valine (THB-Val) constitute excellent biomarkers of exposure, both being highly correlated with BD exposure levels, and that GST genotypes modulate at least one metabolic pathway, but that irreversible genotoxic effects such as chromosome aberrations and HPRT gene mutations are neither associated with BD exposure levels nor with worker genotypes (GST [glutathione-S-transferase]-M1, GSTT1, CYP2E1 (5' promoter), CYP2E1 (intron 6), EH [epoxide hydrolase] 113, EH139, ADH [alcohol dehydrogenase] 2 and ADH3).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 668, "end": 673}], "disease": [{"text": "hemoglobin", "start": 191, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Application of HGF to the wounds significantly enhanced wound healing and inhibited over scarring.", "output": {"entities": {"gene": [{"text": "HGF", "start": 15, "end": 18}], "disease": [{"text": "scarring", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "To explain the increase in potency it is speculated that during the development of pulmonary hypertension the mechanism whereby ET-1 and NA contract pulmonary arteries may change from one in which Ca2 + influx plays only a minor role to one in which Ca2 + influx predominates, although no direct evidence to support this speculation has yet been obtained.", "output": {"entities": {"gene": [{"text": "ET-1", "start": 128, "end": 132}], "disease": [{"text": "pulmonary hypertension", "start": 83, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ET-1", "start": 128, "end": 132}, "tail": {"text": "pulmonary hypertension", "start": 83, "end": 105}}]}}, "schema": []}
{"input": "We conclude that the recurring Ashkenazi MSH2 and MSH6 mutations contribute little if any to sporadic and familial gastric and pancreatic cases in Israeli patients.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 41, "end": 45}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Both male and female 5-HT3A mutant mice had urinary bladder mucosal and smooth muscle hyperplasia and hypertrophy, whereas male mutant mice had additional prostatic smooth muscle and urethral hyperplasia.", "output": {"entities": {"gene": [{"text": "5-HT3A", "start": 21, "end": 27}], "disease": [{"text": "hyperplasia", "start": 86, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In contrast, only male Nf1 GEM showed spatial learning/memory deficits, increased Ras activity, and reduced dopamine levels.", "output": {"entities": {"gene": [{"text": "GEM", "start": 27, "end": 30}], "disease": [{"text": "memory deficits", "start": 55, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Clinical investigation of the homozygous Arg133Trp carriers and of the Arg37Trp carrier demonstrated a more severe alteration in insulin secretory reserve, during a glucagon-stimulation test, compared to other KPD subjects.", "output": {"entities": {"gene": [{"text": "Arg133Trp", "start": 41, "end": 50}], "disease": [{"text": "KPD", "start": 210, "end": 213}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Arg133Trp", "start": 41, "end": 50}, "tail": {"text": "KPD", "start": 210, "end": 213}}]}}, "schema": []}
{"input": "The macrophage scavenger receptor (SR) plays a leading role in atherogenesis, but little is known about the relevance of SR to atherosclerosis in uremia.", "output": {"entities": {"gene": [{"text": "macrophage scavenger receptor", "start": 4, "end": 33}], "disease": [{"text": "uremia", "start": 146, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The identification of MYH9 as the disease gene for MHA establishes the pathogenesis of the disorder, should provide further insight into the processes of normal platelet formation and may facilitate identification of the genetic basis of related disorders.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 22, "end": 26}], "disease": [{"text": "MHA", "start": 51, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 22, "end": 26}, "tail": {"text": "MHA", "start": 51, "end": 54}}]}}, "schema": []}
{"input": "Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.", "output": {"entities": {"gene": [{"text": "coagulation factor XII (Hageman factor", "start": 22, "end": 60}], "disease": [{"text": "hereditary angioedema type III", "start": 69, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor XII (Hageman factor", "start": 22, "end": 60}, "tail": {"text": "hereditary angioedema type III", "start": 69, "end": 99}}]}}, "schema": []}
{"input": "The strength of adhesion between RPE apical microvilli and photoreceptor outer segments also declined during peak adhesion in all mutants.", "output": {"entities": {"gene": [{"text": "RPE", "start": 33, "end": 36}], "disease": [{"text": "adhesion", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The antigens MART and OND have been located on the leucocyte adhesion molecules (beta2 integrins) and found to be caused by single nucleotide mutations in the alphaM (CD11b) and alphaL (CD11a) subunits.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 186, "end": 191}], "disease": [{"text": "adhesion", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "In both strains, JAK2 V617F, but not JAK2 WT, induced non-fatal polycythemia characterized by increased hematocrit and hemoglobin, reticulocytosis, splenomegaly, low plasma erythropoietin (Epo), and Epo-independent erythroid colonies.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 17, "end": 21}], "disease": [{"text": "hemoglobin", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "From MPP to MDC, the percent change in blood pressure per year was higher for systolic blood pressure (P = 0. 002) and diastolic blood pressure (P = 0. 001) in SGK-1 risk carriers than noncarriers.", "output": {"entities": {"gene": [{"text": "MDC", "start": 12, "end": 15}], "disease": [{"text": "diastolic blood pressure", "start": 119, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology.", "output": {"entities": {"gene": [{"text": "COL17A1", "start": 49, "end": 56}], "disease": [{"text": "ERED", "start": 96, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL17A1", "start": 49, "end": 56}, "tail": {"text": "ERED", "start": 96, "end": 100}}]}}, "schema": []}
{"input": "This process was greatly impaired in CCR2-/-mice and granulomas remained small.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 37, "end": 41}], "disease": [{"text": "granulomas", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association of Gln223Arg variant in leptin receptor gene with metabolic abnormalities and hypertension in type II diabetes mellitus.", "output": {"entities": {"gene": [{"text": "leptin receptor gene", "start": 55, "end": 75}], "disease": [{"text": "abnormalities", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Elevated TIMP-1 protein has been thought to be associated with oral fibrosis, however whether TIMP-1 expression in OSF is modulated at the transcriptional level is still unknown.", "output": {"entities": {"gene": [{"text": "OSF", "start": 115, "end": 118}], "disease": [{"text": "fibrosis", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59. 6 +/-21, 8, AC 79. 9 +/-22. 7, CC 65. 4 +/-22. 7 mmHg, P = 0. 007), (minimal DBP: AA 36. 4 +/-22. 7, AC 52. 3 +/-22. 9, CC 45. 4 +/-19. 5 mmHg, P = 0. 007). AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59. 7 +/-24. 6, AC 50. 6 +/-20. 6, CC 46. 0 +/-13. 2, P = 0. 01) and at syncope occurrence (SDNN: AA 71. 0 +/-20. 9, AC 58. 2 +/-17. 9, CC 58 +/-10, P = 0. 04) Its role in genetic predisposition to vasovagal syncope cannot be excluded.", "output": {"entities": {"gene": [{"text": "DBP", "start": 130, "end": 133}], "disease": [{"text": "systolic blood pressure", "start": 70, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Classic WAS often results from mutations that cause the absence of WASP expression, associated with thrombocytopenia with small platelets, sinopulmonary infections, and eczema in young males.", "output": {"entities": {"gene": [{"text": "WASP", "start": 67, "end": 71}], "disease": [{"text": "infections", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1, 2-dioxygenase gene.", "output": {"entities": {"gene": [{"text": "homogentisate 1, 2-dioxygenase", "start": 69, "end": 99}], "disease": [{"text": "alkaptonuria", "start": 21, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "homogentisate 1, 2-dioxygenase", "start": 69, "end": 99}, "tail": {"text": "alkaptonuria", "start": 21, "end": 33}}]}}, "schema": []}
{"input": "AP3 & #948; deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10.", "output": {"entities": {"gene": [{"text": "HPS10", "start": 130, "end": 135}], "disease": [{"text": "albinism", "start": 90, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPS10", "start": 130, "end": 135}, "tail": {"text": "albinism", "start": 90, "end": 98}}]}}, "schema": []}
{"input": "Moreover, infertile patients with the BDNF (Met/Met) genotype had a poorer IVF outcome compared with the BDNF (Val/Val) genotype individuals, which might in part be due to the decreased BDNF levels in follicular fluids after controlled ovarian hyperstimulation.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 38, "end": 42}], "disease": [{"text": "infertile", "start": 10, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "We investigated the polymorphisms of 14 adhesion molecules (CD2, CD28, CD31, CD34, CD36, CD42, CD44, CD48, CD49b, CD54, CD62L, CD86, CD102, and CD106) in Japanese subjects and their association with the occurrence of GVHD after allogeneic HLA identical BMT.", "output": {"entities": {"gene": [{"text": "CD48", "start": 101, "end": 105}], "disease": [{"text": "adhesion", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We sought to further identify the role of CDH17 in the tumorigenesis and lymphatic metastasis of GC.", "output": {"entities": {"gene": [{"text": "CDH17", "start": 42, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "rs1799941 A allele was associated with high SHBG levels (p = 0. 031), low blood pressure, body mass index and waist circumference.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 44, "end": 48}], "disease": [{"text": "body mass index", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Vaspin was barely detectable in rats at 6 wk and was highly expressed in adipocytes of visceral WATs at 30 wk, the age when obesity, body weight, and insulin levels peak in OLETF rats.", "output": {"entities": {"gene": [{"text": "Vaspin", "start": 0, "end": 6}], "disease": [{"text": "body weight", "start": 133, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "MRC-cIII-generated ROS promote oxidative DNA damage to trigger genomic instability, resulting in an accumulation of chromosomal aberrations and tyrosine kinase inhibitor-resistant BCR-ABL1 mutants.", "output": {"entities": {"gene": [{"text": "BCR", "start": 180, "end": 183}], "disease": [{"text": "genomic instability", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.", "output": {"entities": {"gene": [{"text": "transferrin receptor-2", "start": 27, "end": 49}], "disease": [{"text": "hemochromatosis type 3", "start": 79, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "transferrin receptor-2", "start": 27, "end": 49}, "tail": {"text": "hemochromatosis type 3", "start": 79, "end": 101}}]}}, "schema": []}
{"input": "The inv (11) (p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.", "output": {"entities": {"gene": [{"text": "DDX10", "start": 186, "end": 191}], "disease": [{"text": "chromosome translocation", "start": 22, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.", "output": {"entities": {"gene": [{"text": "TP53RK", "start": 49, "end": 55}], "disease": [{"text": "GAMOS", "start": 170, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53RK", "start": 49, "end": 55}, "tail": {"text": "GAMOS", "start": 170, "end": 175}}]}}, "schema": []}
{"input": "Because fibrocytes are involved in tissue repair and fibrosis and are presumably precursors of lung fibroblasts and myofibroblasts, we examined the effects of IL-17A/F on fibrocyte functions.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 159, "end": 165}], "disease": [{"text": "fibrosis", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.", "output": {"entities": {"gene": [{"text": "CDKN1C", "start": 40, "end": 46}], "disease": [{"text": "IMAGe syndrome", "start": 53, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDKN1C", "start": 40, "end": 46}, "tail": {"text": "IMAGe syndrome", "start": 53, "end": 67}}]}}, "schema": []}
{"input": "High-dose chemoradiotherapy followed by MUD marrow infusion has a curative potential for patients with advanced acute leukemia and offers the chance of long-term leukemia-free survival.", "output": {"entities": {"gene": [{"text": "MUD", "start": 40, "end": 43}], "disease": [{"text": "leukemia", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The AURKA gene is located on chromosome 20q13, also known as HPC20 prostate cancer susceptibility locus.", "output": {"entities": {"gene": [{"text": "AURKA gene", "start": 4, "end": 14}], "disease": [{"text": "prostate cancer susceptibility", "start": 67, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Using fluorescence in situ hybridization (FISH) analysis, we investigated the existence of CHOP split signals in various histological areas of PLS including the MLS/RC-like feature and also estimated the distribution of various signals with polyploidy and amplification.", "output": {"entities": {"gene": [{"text": "FISH", "start": 42, "end": 46}], "disease": [{"text": "polyploidy", "start": 241, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Treatment with TGF-beta or expression of an activated TGF-beta type I receptor (Alk5 with the mutation T204D [Alk5 (T204D)]) induced phosphorylation of TACE/ADAM17 and its translocation to the cell surface, resulting in increased secretion of TGF-alpha, amphiregulin, and heregulin.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 254, "end": 266}], "disease": [{"text": "translocation", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We have studied a translocation, t (9; 14) (p13; q32), in a diffuse large-cell lymphoma cell line, KIS-1, that expresses the Ki-1 (CD30) antigen.", "output": {"entities": {"gene": [{"text": "p13", "start": 44, "end": 47}], "disease": [{"text": "diffuse large-cell lymphoma", "start": 60, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Vogt-Koyanagi-Harada disease associated with interferon alpha-2b/ribavirin combination therapy.", "output": {"entities": {"gene": [{"text": "interferon alpha-2b", "start": 45, "end": 64}], "disease": [{"text": "Vogt-Koyanagi-Harada disease", "start": 0, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interferon alpha-2b", "start": 45, "end": 64}, "tail": {"text": "Vogt-Koyanagi-Harada disease", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.", "output": {"entities": {"gene": [{"text": "beta2", "start": 76, "end": 81}], "disease": [{"text": "leukocyte adhesion deficiency", "start": 8, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The germline CHEK2-1100delC mutation was present among 8/1, 646 (0. 5%) sporadic, 2/400 (0. 5%) early-onset and 3/302 (1%) familial breast cancer cases, but undetectable amongst 2, 105 multiethnic controls, including 633 from the US.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "This might be due to a less severe loss of function of barttin induced by G47R mutation, compared with others, and our observation seems to suggest a possibility of the prevalence of mild form BSND with various levels of barttin dysfunction among patients with congenital deafness of unknown origin.", "output": {"entities": {"gene": [{"text": "barttin", "start": 55, "end": 62}], "disease": [{"text": "mild", "start": 183, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.", "output": {"entities": {"gene": [{"text": "GNB2L1", "start": 32, "end": 38}], "disease": [{"text": "bipolar disorder", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNB2L1", "start": 32, "end": 38}, "tail": {"text": "bipolar disorder", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "Six proteins were found to significantly differ among the four treatment groups, with Δ9-THC and ovariectomy (OVX) decreasing the mitochondrial proteins, pyruvate carboxylase and NADH dehydrogenase, whereas the levels of putative cytosolic molecular chaperones NM23B, translationally controlled tumor protein, DJ-1 and activator of heat-shock 90kDa protein ATPase homolog 1 (AHA1) were increased.", "output": {"entities": {"gene": [{"text": "NM23B", "start": 261, "end": 266}], "disease": [{"text": "shock", "start": 337, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "Previous cross-sectional studies have suggested ADRB3 as a possible candidate gene in the development of hyperuricemia and insulin resistance.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 48, "end": 53}], "disease": [{"text": "insulin resistance", "start": 123, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The UCP2-866G > A and UCP3-55C > T gene variants showed significant associations with BMI level, waist circumference, and body weight in the children but not in the adults.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 4, "end": 8}], "disease": [{"text": "body weight", "start": 122, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "To search for molecular evidence of Chlamydial infection in systemic lupus erythematosus (SLE) subjects and to assess if there is an association of this infectious agent with coronary artery calcification (CAC), a marker of total atherosclerotic burden.", "output": {"entities": {"gene": [{"text": "CAC", "start": 206, "end": 209}], "disease": [{"text": "coronary artery calcification", "start": 175, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "CGI in 5' upstream regions of 20 genes, TSPAN-2, AK5, LOC284999, HOXD11, FLJ25161, XT3, PCDH10, PCDHGB6, SIM1, LOC346978, COE2, TDH (FLJ25033), LOC346419, FLJ33790, GJB2, AMN, LOC201164, DLX4, DCC and FOXA2, were found to be methylated in at least one of 8 breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "HOXD11", "start": 65, "end": 71}], "disease": [{"text": "breast cancer", "start": 257, "end": 270}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXD11", "start": 65, "end": 71}, "tail": {"text": "breast cancer", "start": 257, "end": 270}}]}}, "schema": []}
{"input": "It likely plays a similar role when double strand breaks are created in the course of normal DNA replication; the absence of BRCA2 results in chromosomal instability, which is likely secondary to the defect in DNA repair.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 125, "end": 130}], "disease": [{"text": "chromosomal instability", "start": 142, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Rad18-induced mono-ubiquitination of FANCD2 is not observed in FA core complex-deficient cells, demonstrating that Rad18 E3 ligase activity alone is insufficient for FANCD2 ubiquitylation.", "output": {"entities": {"gene": [{"text": "Rad18", "start": 0, "end": 5}], "disease": [{"text": "mono", "start": 14, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The degree of developmental overgrowth of the GPC3-deficient mice is similar to that of mice deficient in IGF receptor type 2 (IGF2R), a well characterized negative regulator of IGF-II.", "output": {"entities": {"gene": [{"text": "IGF2R", "start": 127, "end": 132}], "disease": [{"text": "overgrowth", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Our analysis implicates novel biological features associated with LKB1 loss, including altered mitochondrial metabolism, activation of the nuclear respiratory factor 2 (NRF2) transcription factor by kelch-like ECH-associated protein 1 (KEAP1) mutations, and attenuation of the phosphatidylinositiol 3-kinase and v-akt murine thymoma viral oncogene homolog (PI3K/AKT) pathway.", "output": {"entities": {"gene": [{"text": "LKB1", "start": 66, "end": 70}], "disease": [{"text": "thymoma", "start": 325, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure.", "output": {"entities": {"gene": [{"text": "alpha-4", "start": 87, "end": 94}], "disease": [{"text": "anemia", "start": 154, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Further analysis of the MT1/2 skin papilloma cell line showed that a quercetin treatment dose dependently suppressed IGF-1 induced phosphorylation of the IGF-1 receptor (IGF-1R), insulin receptor substrate (IRS)-1, Akt and S6K; however, had no effect on the phosphorylation of PTEN.", "output": {"entities": {"gene": [{"text": "S6K", "start": 223, "end": 226}], "disease": [{"text": "skin papilloma", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The RANTES-403G/A polymorphism did not influence asthma/atopy susceptibility, blood eosinophil count, or bronchial hyperresponsiveness.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 4, "end": 10}], "disease": [{"text": "atopy", "start": 56, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Human studies have also linked the CACNA1D gene, which codes for the Ca & lt; sub & gt; v & lt;/sub & gt; 1. 3 protein, with bipolar disorder.", "output": {"entities": {"gene": [{"text": "CACNA1D", "start": 35, "end": 42}], "disease": [{"text": "bipolar disorder", "start": 125, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNA1D", "start": 35, "end": 42}, "tail": {"text": "bipolar disorder", "start": 125, "end": 141}}]}}, "schema": []}
{"input": "To further evaluate the role of RPS14, its transcription was tested in bone marrow cells from 17 patients with International Prognostic Scoring System defined Low-or Intermediate-1-risk MDS with del (5q) as a single or additional cytogenetic abnormality receiving treatment with lenalidomide.", "output": {"entities": {"gene": [{"text": "RPS14", "start": 32, "end": 37}], "disease": [{"text": "cytogenetic abnormality", "start": 230, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Human acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and chronic myeloid leukemia cell lines transduced with the monocistronic pHR-CD80 vector or the bicistronic pHR-GM/CD vector became 75% to 95% CD80 positive (CD80 (+)).", "output": {"entities": {"gene": [{"text": "CD80", "start": 150, "end": 154}], "disease": [{"text": "chronic myeloid leukemia", "start": 76, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We further discuss the role of ten genes known or assumed to be related to developmental delay and/or autism (BAI3, RIMS1, KCNQ5, HTR1B, PHIP, SYNCRIP, HTR1E, ZNF292, AKIRIN2 and EPHA7).", "output": {"entities": {"gene": [{"text": "ZNF292", "start": 159, "end": 165}], "disease": [{"text": "autism", "start": 102, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF292", "start": 159, "end": 165}, "tail": {"text": "autism", "start": 102, "end": 108}}]}}, "schema": []}
{"input": "Ewing family tumors (EFTs) are associated with a chromosomal translocation resulting in a fusion of the amino-terminus of EWS with the DNA-binding domain of an ETS transcription factor.", "output": {"entities": {"gene": [{"text": "EWS", "start": 122, "end": 125}], "disease": [{"text": "chromosomal translocation", "start": 49, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Both the mucosa and polyps from the intestine and colon were assayed for beta-catenin, cyclooxygenase (COX)-2 expression and COX isoform activities.", "output": {"entities": {"gene": [{"text": "COX", "start": 103, "end": 106}], "disease": [{"text": "polyps", "start": 20, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether this polymorphism is predictive of reductions in blood pressure and albuminuria and preservation of glomerular filtration rate (GFR) during short-term and long-term treatment with losartan in 57 hypertensive type-1 diabetic patients with diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "GFR", "start": 152, "end": 155}], "disease": [{"text": "albuminuria", "start": 92, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "After comparing patients with asthma, atopic patients, non-atopic patients and control population, we found no significant deviation in the distribution of the alleles or genotypes of CCL5/RANTES promoter polymorphisms in any tested comparison.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 189, "end": 195}], "disease": [{"text": "atopic", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Inducible nitric oxide synthase (iNOS) and interleukin 8 (IL-8) are positive in approximately 50% of Helicobacter pylori-related diseases but it is not clear whether oxidative stress is also present in H. pylori asymptomatic humans.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 58, "end": 62}], "disease": [{"text": "asymptomatic", "start": 212, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "On the contrary, no sporadic breast tumors have been shown to harbor mutations in BRCA1 and BRCA2 genes.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 92, "end": 103}], "disease": [{"text": "sporadic", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Thus, Pin1-mediated reduction of SUV39H1 stability contributes to convey oncogenic signals for aggressiveness of human breast cancer, suggesting that Pin1 may be a promising drug target for anticancer therapy.", "output": {"entities": {"gene": [{"text": "SUV39H1", "start": 33, "end": 40}], "disease": [{"text": "aggressiveness", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Incidentally, any defect in insulin secretion, whether in normoglycemic or hyperglycemic persons, could be due to other factors than primary beta-cell dysfunction: amyloid deposits in the pancreas (126), changes in insulin secretagogues (amylin, GLP-1, GIP, galanin) (127-130), early intrauterine malnutrition (131).", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 246, "end": 251}], "disease": [{"text": "amyloid deposits", "start": 164, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Adaptive evolution of heparanase in hypoxia-tolerant Spalax: gene cloning and identification of a unique splice variant.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 22, "end": 32}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "An elevated PMN CD64 index is associated with both mucosal inflammation and an increased risk for clinical relapse in pediatric CD.", "output": {"entities": {"gene": [{"text": "CD64", "start": 16, "end": 20}], "disease": [{"text": "mucosal inflammation", "start": 51, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of the STAT1-signalling pathway by methylation of the promoter may inactivate the p21WAF1/CIP1 TSG in prostate cancer.", "output": {"entities": {"gene": [{"text": "TSG", "start": 110, "end": 113}], "disease": [{"text": "prostate cancer", "start": 117, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In this context, galanin is of particular interest, since it is co-localised with serotonin in the dorsal raphe nucleus and with noradrenaline in the locus coeruleus, nuclei known to play a major role in affective disorders and in the action of antidepressant drugs.", "output": {"entities": {"gene": [{"text": "galanin", "start": 17, "end": 24}], "disease": [{"text": "affective disorders", "start": 204, "end": 223}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "galanin", "start": 17, "end": 24}, "tail": {"text": "affective disorders", "start": 204, "end": 223}}]}}, "schema": []}
{"input": "Many proteins and genes involved in adhesion and signaling, including small GTPases such as Rap1 and Rap2 as well as the major Rap activity-regulating molecules, were normally present.", "output": {"entities": {"gene": [{"text": "Rap2", "start": 101, "end": 105}], "disease": [{"text": "adhesion", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Altogether, we provide compelling evidence that de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity.", "output": {"entities": {"gene": [{"text": "DPF2", "start": 68, "end": 72}], "disease": [{"text": "Coffin-Siris syndrome", "start": 79, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DPF2", "start": 68, "end": 72}, "tail": {"text": "Coffin-Siris syndrome", "start": 79, "end": 100}}]}}, "schema": []}
{"input": "In the present study, we have investigated the role of type-A endothelin (ET-A) receptors in the development of CH-induced inflammation.", "output": {"entities": {"gene": [{"text": "ET-A", "start": 74, "end": 78}], "disease": [{"text": "inflammation", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.", "output": {"entities": {"gene": [{"text": "PANK2", "start": 34, "end": 39}], "disease": [{"text": "Hallervorden-Spatz syndrome", "start": 57, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PANK2", "start": 34, "end": 39}, "tail": {"text": "Hallervorden-Spatz syndrome", "start": 57, "end": 84}}]}}, "schema": []}
{"input": "The hypersensitivity of jmjd-1. 1 worms to ICLs was increased by rad-54 knockdown, suggesting that JMJD-1. 1 acts in parallel with RAD-54 in modulating chromatin structure.", "output": {"entities": {"gene": [{"text": "RAD", "start": 131, "end": 134}], "disease": [{"text": "hypersensitivity", "start": 4, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Additional genetic abnormalities were present in 12/14 (86%), including partial uniparental disomies for 9p (one case) and 4q (two cases) associated with homozygous mutations of JAK2 and TET2, respectively.", "output": {"entities": {"gene": [{"text": "TET2", "start": 187, "end": 191}], "disease": [{"text": "abnormalities", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.", "output": {"entities": {"gene": [{"text": "IFT122", "start": 6, "end": 12}], "disease": [{"text": "cranioectodermal dysplasia", "start": 58, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT122", "start": 6, "end": 12}, "tail": {"text": "cranioectodermal dysplasia", "start": 58, "end": 84}}]}}, "schema": []}
{"input": "Mutations in DAX-1 found in AHC-HHG patients significantly impair RNA binding.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 13, "end": 18}], "disease": [{"text": "AHC", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 13, "end": 18}, "tail": {"text": "AHC", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).", "output": {"entities": {"gene": [{"text": "ODD", "start": 190, "end": 193}], "disease": [{"text": "smoking", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI > or = 30) in Pacific Islanders.", "output": {"entities": {"gene": [{"text": "LEP", "start": 83, "end": 86}], "disease": [{"text": "body weight", "start": 247, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Blocking miR-346 by an antagomiR was sufficient to inhibit NSCLC cell growth and metastasis, an effect that could be phenol-copied by RNAi-mediated silencing of XPC.", "output": {"entities": {"gene": [{"text": "miR-346", "start": 9, "end": 16}], "disease": [{"text": "metastasis", "start": 81, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-346", "start": 9, "end": 16}, "tail": {"text": "metastasis", "start": 81, "end": 91}}]}}, "schema": []}
{"input": "Analysis of these filaments showed reduced association of TPM3, particularly during hypoxia, suggesting that RIOK3 regulates actin filament specialisation.", "output": {"entities": {"gene": [{"text": "RIOK3", "start": 109, "end": 114}], "disease": [{"text": "hypoxia", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 35, "end": 39}], "disease": [{"text": "infertile", "start": 70, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Patients with USH1 have severe to profound congenital hearing impairment, vestibular dysfunction, and retinal degeneration beginning in childhood, while those with USH2 have moderate to severe hearing impairment, normal vestibular function, and later onset of retinal degeneration.", "output": {"entities": {"gene": [{"text": "USH2", "start": 164, "end": 168}], "disease": [{"text": "vestibular dysfunction", "start": 74, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We assessed the relation between NAT2 acetylation status and breast cancer risk, and its interaction with smoking, in a prospective study of mainly Caucasian US women.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 33, "end": 37}], "disease": [{"text": "smoking", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The presence of the' T' allele at Xmn1-HBG2 led to a significant increase in hemoglobin (P = 9. 8 × 10 (-3)) but no changes in cellular hemoglobin content.", "output": {"entities": {"gene": [{"text": "HBG2", "start": 39, "end": 43}], "disease": [{"text": "hemoglobin", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "At baseline, blood pressure, albuminuria and glomerular filtration rate (GFR) values were similar in the two genotype groups [II vs. DD, 1134 (238 to 5302) vs. 1451 (227 to 8129) mg/24 h, median (range); 156/82 (17/9) vs. 153/80 (17/11) mm Hg, mean (SD); and 86 (22) vs. 88 (24) mL/min/1. 73 m2, respectively].", "output": {"entities": {"gene": [{"text": "GFR", "start": 73, "end": 76}], "disease": [{"text": "albuminuria", "start": 29, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Pre-treatment with HA inhibited the secretion of monocyte chemoattractant protein (MCP)-1, the expression of vascular cell adhesion molecule (VCAM)-1 and the activation of transcriptional nuclear factor (NF)-kappaB in HUVECs stimulated with tumor necrosis factor-alpha, the major pro-inflammatory cytokine causing endothelial inflammation.", "output": {"entities": {"gene": [{"text": "MCP", "start": 83, "end": 86}], "disease": [{"text": "inflammation", "start": 326, "end": 338}]}, "relations": {}}, "schema": []}
{"input": "Cells of a human gastric cancer cell line, MKN45, were then co-cultured with the supernatants, with and without monoclonal anti-MIF antibody for 24 h. The cells were further incubated for 12 h after addition of 3H-thymidine, and the levels of incorporation of 3H-thymidine were measured with a liquid scintillation counter.", "output": {"entities": {"gene": [{"text": "MIF", "start": 128, "end": 131}], "disease": [{"text": "gastric cancer", "start": 17, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide association studies for body mass index (BMI) previously identified a locus near TMEM18.", "output": {"entities": {"gene": [{"text": "TMEM18", "start": 93, "end": 99}], "disease": [{"text": "body mass index", "start": 36, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "These results do not support an association between genetic variation near NOTCH4 and BPAD in this sample.", "output": {"entities": {"gene": [{"text": "NOTCH4", "start": 75, "end": 81}], "disease": [{"text": "BPAD", "start": 86, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOTCH4", "start": 75, "end": 81}, "tail": {"text": "BPAD", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "Altered expression of adhesion molecules CD44, CD54 (case 1) and CD11a and CD18 (case 2) may help to explain the poor outcome of these patients.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 65, "end": 70}], "disease": [{"text": "adhesion", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "There was no significant difference in terms of kidney function, urinary activity, SLEDAI score, presence of anti-dsDNA antibodies, CD4 +/CD8 + ratio and BKV viremia and/viruria, as well as there was no significant correlation between SLEDAI score, anti-dsDNA antibodies titers and median viral load.", "output": {"entities": {"gene": [{"text": "CD4", "start": 132, "end": 135}], "disease": [{"text": "viremia", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We treated each mouse model with the HPGDS-specific inhibitor, HQL-79, and measured both necrotic muscle volume and selected cytokine mRNA levels.", "output": {"entities": {"gene": [{"text": "HPGDS", "start": 37, "end": 42}], "disease": [{"text": "necrotic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Finally, we observed modulation of genes involved in cell growth inhibition (CGREF1, PA2G4, and PPP2R1B), increased apoptosis (FAS, TNFSF10, and BASP1), and reduced adhesion at the dermal epidermal junction (PLEC1, ITGB4, and LAMA5).", "output": {"entities": {"gene": [{"text": "PPP2R1B", "start": 96, "end": 103}], "disease": [{"text": "adhesion", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The haplotype alleles of the TNT-alpha and TNFR2 gene polymorphisms are genetic factors associated with endometriosis, and circulating sTNFR rather than TNT-alpha, may be involved in the development of endometriosis in Korean women.", "output": {"entities": {"gene": [{"text": "TNT", "start": 29, "end": 32}], "disease": [{"text": "endometriosis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Anomalies of these proteins, including three principal antioxidant enzymes (copper/zinc-superoxide dismutase, peroxiredoxin 3, and thioredoxin-like 1 protein), S100 calcium binding protein, galectin-1, chorionic somatomammotropin hormone 1, transthyretin, fas inhibitory molecule, eukaryotic translation elongation factor, RNA-binding protein, ubiquitin-conjugating enzyme E2N, and proteasome beta-subunit, indicate widespread failure in cell regulations and processes such as antioxidative defense, differentiation, cell proliferation, metabolism, apoptosis, transcription, and proteolysis in early pregnancy loss.", "output": {"entities": {"gene": [{"text": "peroxiredoxin 3", "start": 110, "end": 125}], "disease": [{"text": "early pregnancy loss", "start": 594, "end": 614}]}, "relations": {}}, "schema": []}
{"input": "TSG partly restored microvascular endothelial dysfunction through activating the Akt/mTOR pathway, which consequently suppressed autophagy, indicating that TSG could be potentially applied to protect vascular function against subclinical changes in prehypertension.", "output": {"entities": {"gene": [{"text": "TSG", "start": 0, "end": 3}], "disease": [{"text": "prehypertension", "start": 249, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "A new mutation in the UROD gene causes a mild HEP phenotype.", "output": {"entities": {"gene": [{"text": "UROD gene", "start": 22, "end": 31}], "disease": [{"text": "mild", "start": 41, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene.", "output": {"entities": {"gene": [{"text": "ABCB7", "start": 68, "end": 73}], "disease": [{"text": "XLSA-A", "start": 33, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCB7", "start": 68, "end": 73}, "tail": {"text": "XLSA-A", "start": 33, "end": 39}}]}}, "schema": []}
{"input": "Lithium-treated WT mice had 19-fold increased urine output whereas treated PKC & #945; KO animals had a 4-fold increase in output.", "output": {"entities": {"gene": [{"text": "PKC", "start": 75, "end": 78}], "disease": [{"text": "increased urine output", "start": 36, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PKC", "start": 75, "end": 78}, "tail": {"text": "increased urine output", "start": 36, "end": 58}}]}}, "schema": []}
{"input": "The expression of TM4SF5, CTD-2354A18. 1 and miR-4697-3P is in balance at physiological conditions, however, the balance is disrupted by some situations, which may contribute to gastric cancer.", "output": {"entities": {"gene": [{"text": "TM4SF5", "start": 18, "end": 24}], "disease": [{"text": "gastric cancer", "start": 178, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, with brain pathology characterized by TDP-43 immunostaining.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 143, "end": 149}], "disease": [{"text": "hypoventilation", "start": 88, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch' s membrane.", "output": {"entities": {"gene": [{"text": "RPE", "start": 85, "end": 88}], "disease": [{"text": "adhesion", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Conversely, some miRNAs show lymphoma-specific aberrant expression, such as MIRN9/9 *, MIRN301, MIRN338 and MIRN213 in FL and MIRN150, MIRN17-5P, MIRN145, MIRN328 and others in DLBCL.", "output": {"entities": {"gene": [{"text": "MIRN328", "start": 155, "end": 162}], "disease": [{"text": "lymphoma", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).", "output": {"entities": {"gene": [{"text": "CSMD1", "start": 391, "end": 396}], "disease": [{"text": "alcohol consumption", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Accumulation of CML and a CML-upregulated RAGE-dependent inflammatory response in steatotic livers may play an important role in hepatic steatosis and in the pathogenesis of NAFLD.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 42, "end": 46}], "disease": [{"text": "hepatic steatosis", "start": 129, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the relationship between the expression levels of thymidylate synthase (TS) and 2-[¹⁸F]-fluoro-2-deoxy-D-glucose (¹⁸F-FDG) uptake on positron emission tomography (PET) in various thoracic neoplasms.]", "output": {"entities": {"gene": [{"text": "FDG", "start": 159, "end": 162}], "disease": [{"text": "thoracic neoplasms", "start": 220, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "T-LAK cell-originated protein kinase (TOPK) phosphorylation of MKP1 protein prevents solar ultraviolet light-induced inflammation through inhibition of the p38 protein signaling pathway.", "output": {"entities": {"gene": [{"text": "TOPK", "start": 38, "end": 42}], "disease": [{"text": "inflammation", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Both leptin (LEP) and leptin receptor (LEPR) are important in the regulation of body weight.", "output": {"entities": {"gene": [{"text": "LEP", "start": 13, "end": 16}], "disease": [{"text": "body weight", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "To identify the role of apoptosis in brain tumor cell death, we investigated macromolecular (RNA and protein) synthesis and activity in the central to peripheral region of benign [desmoplastic infantile ganglioglioma (DIG) and transitional meningioma (TMG)] and malignant [ependymoma (END), anaplastic astrocytoma (APA), and glioblastoma multiforme (GBM)] brain tumors derived from five patients who had not received previously radiotherapy or chemotherapy.", "output": {"entities": {"gene": [{"text": "APA", "start": 315, "end": 318}], "disease": [{"text": "brain tumors", "start": 356, "end": 368}]}, "relations": {}}, "schema": []}
{"input": "FOXO3 deficiency leads to increased susceptibility to cigarette smoke-induced inflammation, airspace enlargement, and chronic obstructive pulmonary disease.", "output": {"entities": {"gene": [{"text": "FOXO3", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "RNA interference for HIF-1alpha inhibits foam cells formation in vitro.", "output": {"entities": {"gene": [{"text": "HIF-1alpha", "start": 21, "end": 31}], "disease": [{"text": "foam cells", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The expression of neurogenin 3 (NEUROG3), neurogenic differentiation 1 (NEUROD1), POU class 3 homeobox 4 (POU3F4), pancreatic duodenal homeobox factor 1 (PDX1), ribosomal protein L10 (RPL10), delta-like 1 homolog (Drosophila; DLK1), and menin was analyzed by immunohistochemistry in normal pancreas and pancreatic endocrine tumors from 6 patients with MEN1 and 16 patients with sporadic tumors, as well as pancreatic specimens from Men1 heterozygous and wild type mice.", "output": {"entities": {"gene": [{"text": "DLK1", "start": 226, "end": 230}], "disease": [{"text": "sporadic", "start": 378, "end": 386}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of TWEAK could be a potential approach to prevent weight gain and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 14, "end": 19}], "disease": [{"text": "weight gain", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "PAK1 modulates a PPARγ/NF-κB cascade in intestinal inflammation.", "output": {"entities": {"gene": [{"text": "PAK1", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In a sporadic FAF patient, however, the haplotype was dissimilar to the founder haplotype.", "output": {"entities": {"gene": [{"text": "FAF", "start": 14, "end": 17}], "disease": [{"text": "sporadic", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "In view of the documented link between dopamine (DA) transmission and schizophrenia, the present study used behavioral and neurochemical approaches to examine the influence of constitutive PKCI/HINT1 deletion upon: (i) basal and amphetamine (AMPH)-evoked locomotor activity; (ii) DA dynamics in the dorsal striatum, and (iii) postsynaptic DA receptor function.", "output": {"entities": {"gene": [{"text": "HINT1", "start": 194, "end": 199}], "disease": [{"text": "schizophrenia", "start": 70, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HINT1", "start": 194, "end": 199}, "tail": {"text": "schizophrenia", "start": 70, "end": 83}}]}}, "schema": []}
{"input": "Subsequent sequencing of this gene in several additional trichomegaly families identified an additional mutation in FGF5.", "output": {"entities": {"gene": [{"text": "FGF5", "start": 116, "end": 120}], "disease": [{"text": "trichomegaly", "start": 57, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF5", "start": 116, "end": 120}, "tail": {"text": "trichomegaly", "start": 57, "end": 69}}]}}, "schema": []}
{"input": "Tuberculous or bacterial meningitis, tuberculoma and abscess were at the top of the diagnosis list followed by Herpes simplex meningo-encephalitis (HSE).", "output": {"entities": {"gene": [{"text": "HSE", "start": 148, "end": 151}], "disease": [{"text": "bacterial meningitis", "start": 15, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "In the ROP model, avascular retina persisted at P14 and intravitreous neovascularization developed at P18.", "output": {"entities": {"gene": [{"text": "P18", "start": 102, "end": 105}], "disease": [{"text": "neovascularization", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Archival tissues from 68 patients with squamous cell carcinoma of the tongue were examined for p53, Hsp70, Ki67, and CD34 by immunohistochemistry and correlated with 5-year survival.", "output": {"entities": {"gene": [{"text": "CD34", "start": 117, "end": 121}], "disease": [{"text": "squamous cell carcinoma of the tongue", "start": 39, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In a Cox univariate analysis, the beta1Gly49 and beta2 5' LC-Cys19, Arg16, and Gln27 alleles were associated with a lower risk of heart failure.", "output": {"entities": {"gene": [{"text": "beta2", "start": 49, "end": 54}], "disease": [{"text": "heart failure", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We also determined that the IFN-gamma hypersensitivity of FA-C hematopoietic progenitor cells does not derive from STAT1 activation defects because granulocyte-macrophage CFU and erythroid burst-forming units from STAT1 (-/-) mice were resistant to IFN-gamma.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 115, "end": 120}], "disease": [{"text": "hypersensitivity", "start": 38, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The first aim of this study was to confirm a role for three miRNAs (let-7a, hsa-miR-126, and hsa-miR-145) in the inhibition of proliferation in non-small cell lung cancer (NSCLC) cells.", "output": {"entities": {"gene": [{"text": "hsa-miR-145", "start": 93, "end": 104}], "disease": [{"text": "non-small cell lung cancer", "start": 144, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hsa-miR-145", "start": 93, "end": 104}, "tail": {"text": "non-small cell lung cancer", "start": 144, "end": 170}}]}}, "schema": []}
{"input": "Thus, genetic alterations in CETP levels lead to secondary changes in the plasma LCAT reaction, possibly because of remodeling of HDL by CETP acting in concert with other factors in vivo.", "output": {"entities": {"gene": [{"text": "CETP", "start": 29, "end": 33}], "disease": [{"text": "secondary", "start": 49, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The leucine zipper domain of ATF3 appears indispensable for these effects as an ATF3 mutant lacking this domain failed to interact with E6 and activate p53 in the cervical cancer cells.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 29, "end": 33}], "disease": [{"text": "cervical cancer", "start": 163, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Elafin inhibits serine proteases, such as human neutrophil elastase and proteinase 3, to prevent excessive damage during inflammation.", "output": {"entities": {"gene": [{"text": "Elafin", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Together, these results suggest that reconstitution of MnSOD in tumor cells can specifically modulate the expression of down-stream effector genes.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 55, "end": 60}], "disease": [{"text": "tumor", "start": 64, "end": 69}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MnSOD", "start": 55, "end": 60}, "tail": {"text": "tumor", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "Recurrent pure mucinous carcinoma of the breast with mediastinal great vessel invasion: HER-2/neu confers aggressiveness.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 88, "end": 97}], "disease": [{"text": "aggressiveness", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel' s keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature.", "output": {"entities": {"gene": [{"text": "loricrin", "start": 58, "end": 66}], "disease": [{"text": "ichthyosis", "start": 192, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Patients who fulfilled the diagnostic criteria for acute pyelonephritis (APN) and acute lobar nephronia (ALN) without underlying diseases or structural anomalies, except for vesicoureteral reflux (VUR), were enrolled.", "output": {"entities": {"gene": [{"text": "ALN", "start": 105, "end": 108}], "disease": [{"text": "vesicoureteral reflux", "start": 174, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "NXF2", "start": 125, "end": 129}], "disease": [{"text": "cancer", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Notably, SPARC is linked to human obesity; SPARC derived from adipose tissue is associated with insulin resistance and secretion of SPARC by adipose tissue is increased by insulin and the adipokine leptin.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 9, "end": 14}], "disease": [{"text": "insulin resistance", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We speculate that these leukemia subsets originate from CD4 + hematopoietic precursor cells, therefore then should be considered separately from most of the CD4 + AML as represented by CD34lowCD33high CD11bhighGM-CSFRhigh.", "output": {"entities": {"gene": [{"text": "CD4", "start": 56, "end": 59}], "disease": [{"text": "leukemia", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The disorder was characterized by a progressive neurological syndrome with cerebellar and pyramidal signs, mental deterioration, epilepsy and subcortical leukoencephalopathy on magnetic resonance imaging (MRI).", "output": {"entities": {"gene": [{"text": "MRI", "start": 205, "end": 208}], "disease": [{"text": "epilepsy", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, coinfection of CD34 (+) cells with clinical viral strains blocked the ability of an HDAC inhibitor to activate IE1 and early protein expression during infection with a laboratory-adapted strain.", "output": {"entities": {"gene": [{"text": "CD34", "start": 30, "end": 34}], "disease": [{"text": "coinfection", "start": 15, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.", "output": {"entities": {"gene": [{"text": "EIF6", "start": 121, "end": 125}], "disease": [{"text": "breast tumors", "start": 212, "end": 225}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EIF6", "start": 121, "end": 125}, "tail": {"text": "breast tumors", "start": 212, "end": 225}}]}}, "schema": []}
{"input": "The p53-mutated status of FaDu human pharynx carcinoma cell line was first assessed by DNA sequencing and the cells were transfected using tetraglucosylated polyethylenimine (PEI-Glu4) in conjunction with photochemical internalisation (PCI).", "output": {"entities": {"gene": [{"text": "PCI", "start": 236, "end": 239}], "disease": [{"text": "pharynx carcinoma", "start": 37, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Since certain subsets of aggressive tumors often promote cell motility, invasion and survival by inducing epithelial-to-mesenchymal transition through TGF-beta/BMP in an autocrine and paracrine manner, hypermethylation of the BAMBI gene promoter that leads to BAMBI gene suppression may be one of the epigenetic events affecting the invasiveness or aggressiveness of bladder cancers.", "output": {"entities": {"gene": [{"text": "BAMBI gene", "start": 226, "end": 236}], "disease": [{"text": "aggressiveness", "start": 349, "end": 363}]}, "relations": {}}, "schema": []}
{"input": "(1) The expression amount of p42. 3 in G1 and M phase was higher than that in S and G2 phase; (2) The space coordinate systems of different structural domains of p42. 3 protein were established in Matlab7. 0 software; (3) The optimal pathway of p42. 3 gene in protein regulatory network in gastric cancer is Ras protein, Raf-1 protein, MEK, MAPK kinase, MAPK, tubulin, spindle protein, centromere protein and tumor.", "output": {"entities": {"gene": [{"text": "p42. 3", "start": 245, "end": 251}], "disease": [{"text": "gastric cancer", "start": 290, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "Modulation of PLD1 expression and activity represents a promising therapeutic strategy for the treatment of intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "PLD1", "start": 14, "end": 18}], "disease": [{"text": "tumorigenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Mutations in an essential enzyme of cholesterol biosynthesis, NAD (P) H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided CHILD syndrome and in a sixth patient with bilaterally, symmetric nevi and mild skeletal anomalies, but not with CHILD syndrome as originally defined.", "output": {"entities": {"gene": [{"text": "NSDHL", "start": 100, "end": 105}], "disease": [{"text": "mild", "start": 246, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "All-out efforts should be directed to the prevention of HCC, through prevention of viral hepatitis, prevention of acute hepatitis from becoming chronic, prevention of chronic hepatitis from progressing to cirrhosis, and prevention of the cirrhotic liver from developing HCC (chemoprevention).", "output": {"entities": {"gene": [{"text": "HCC", "start": 56, "end": 59}], "disease": [{"text": "chronic hepatitis", "start": 167, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Genetic associations or gene-smoking interactions was found for GPX1 (Pro200Leu) and EPHX1 (His113Tyr).", "output": {"entities": {"gene": [{"text": "GPX1", "start": 64, "end": 68}], "disease": [{"text": "smoking", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "TMEM25, REPS2 and Meis 1 expression was investigated by qRT-PCR, in triplicate, in 103 breast tumour biopsies procured in 1993-1994.", "output": {"entities": {"gene": [{"text": "Meis 1", "start": 18, "end": 24}], "disease": [{"text": "breast tumour", "start": 87, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Meis 1", "start": 18, "end": 24}, "tail": {"text": "breast tumour", "start": 87, "end": 100}}]}}, "schema": []}
{"input": "A significant association was observed between a low number of CDR frameshifts and the presence of lymph-node metastasis in advanced gastrointestinal tumours.", "output": {"entities": {"gene": [{"text": "CDR", "start": 63, "end": 66}], "disease": [{"text": "metastasis", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Genetic risk for NAT2 genotype was analyzed by smoking index (SI, cigarettes smoked per day x years of smoking).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 17, "end": 21}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Here we assessed the expression of OPG in human gliomas in vivo, in primary glioma cell cultures and in established glioma cell lines.", "output": {"entities": {"gene": [{"text": "OPG", "start": 35, "end": 38}], "disease": [{"text": "glioma", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We tested for N-type and P/Q-type voltage-gated calcium-channel antibodies, neuronal nicotinic acetylcholine receptor alpha3 subunit, acetylcholine receptor-binding antibodies, striated muscle antibodies, Type 1 Purkinje cell cytoplasmic antibodies, types 1 and 2 antineuronal nuclear antibodies and amphiphysin antibodies, GAD-65 antibody, and thyroid microsomal and thyroglobulin antibodies in the serum of 43 patients with or without cataplexy, 41 with known HLA status.", "output": {"entities": {"gene": [{"text": "GAD", "start": 324, "end": 327}], "disease": [{"text": "cataplexy", "start": 437, "end": 446}]}, "relations": {}}, "schema": []}
{"input": "GBMs and glioma cell lines had low levels of NPTX2 transcripts, which could be reversed upon methylation inhibitor treatment.", "output": {"entities": {"gene": [{"text": "NPTX2", "start": 45, "end": 50}], "disease": [{"text": "glioma", "start": 9, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Stratified analyses did not find any significant effect of age, ethnicity, smoking, well-done meat consumption, dietary intake of PhIP, or polymorphisms of CYP1A1, CYP1B1, NAT2, and GSTM1 genes on the level of PhIP-DNA adducts.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 164, "end": 170}], "disease": [{"text": "smoking", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Kinetochore KMN network gene CASC5 mutated in primary microcephaly.", "output": {"entities": {"gene": [{"text": "CASC5", "start": 29, "end": 34}], "disease": [{"text": "primary microcephaly", "start": 46, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASC5", "start": 29, "end": 34}, "tail": {"text": "primary microcephaly", "start": 46, "end": 66}}]}}, "schema": []}
{"input": "L-SIGN (CD209L) isoforms differently mediate trans-infection of hepatoma cells by hepatitis C virus pseudoparticles.", "output": {"entities": {"gene": [{"text": "CD209L", "start": 8, "end": 14}], "disease": [{"text": "hepatoma", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 26, "end": 36}], "disease": [{"text": "carotid stenosis", "start": 89, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Pendred syndrome and non-syndromic recessive deafness associated with enlarged vestibular aqueduct (NSRD with EVA) are caused by mutations in the SLC26A4 (PDS) gene.", "output": {"entities": {"gene": [{"text": "EVA", "start": 110, "end": 113}], "disease": [{"text": "deafness", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p. R329X) leading to a stop codon in PAPSS2.", "output": {"entities": {"gene": [{"text": "PAPSS2", "start": 153, "end": 159}], "disease": [{"text": "SEMD Pakistani type", "start": 53, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAPSS2", "start": 153, "end": 159}, "tail": {"text": "SEMD Pakistani type", "start": 53, "end": 72}}]}}, "schema": []}
{"input": "Levels of K-ras p21, raf-1, mitogen-activated protein kinases Erk 1 and 2, the phosphorylated-activated forms of Erk 1 and 2 (Erk 1P and 2P), and proliferating cell nuclear antigen (PCNA) were measured by immunoblotting in mouse lung tumors (5 to 9 mm in size) caused by N-nitrosodimethylamine (NDMA) and in control lungs.", "output": {"entities": {"gene": [{"text": "raf-1", "start": 21, "end": 26}], "disease": [{"text": "lung tumors", "start": 229, "end": 240}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "raf-1", "start": 21, "end": 26}, "tail": {"text": "lung tumors", "start": 229, "end": 240}}]}}, "schema": []}
{"input": "Meta-analysis of all stroke studies on alteplase-associated angioedema, which provided detailed information about the use of ACE-inhibitors.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 39, "end": 48}], "disease": [{"text": "angioedema", "start": 60, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alteplase", "start": 39, "end": 48}, "tail": {"text": "angioedema", "start": 60, "end": 70}}]}}, "schema": []}
{"input": "At the baseline of BMI, body weight, body fat, waist circumference, hip circumference, the arm skin fold, resting energy expenditure, or blood lipid and glucose profiles, there was no significant difference in participants with/without mutation of the beta (3) AR gene.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 261, "end": 268}], "disease": [{"text": "waist circumference", "start": 47, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Secreted phospholipases A2 (sPLA2) expressed in the skin are thought to be involved in epidermal barrier homeostasis as well as in inflammation.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 28, "end": 33}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Here we showed that a bioactive lipid, lysophophatidic acid (LPA), up-regulated the expression of human telomerase reverse transcriptase (hTERT) and telomerase activity in serous ovarian adenocarcinoma cell lines SKOV3, A2780, and HEY, but not in OCC1, a clear cell ovarian cancer cell line.", "output": {"entities": {"gene": [{"text": "OCC1", "start": 247, "end": 251}], "disease": [{"text": "ovarian adenocarcinoma", "start": 179, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "In conclusion HCC was more frequent in our patients with HBV-HCV co-infection, than in those with HBV or HCV mono-infection; possible associated risk factors for HCC development seem a long duration of disease, high levels of fibrosis and carbohydrate intolerance.", "output": {"entities": {"gene": [{"text": "HCC", "start": 14, "end": 17}], "disease": [{"text": "fibrosis", "start": 226, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Elevated expression of protein casein kinase II (CKII) stimulated basal phospholipase D (PLD) activity as well as PMA-induced PLD activation in human U87 astroglioma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 150, "end": 153}], "disease": [{"text": "astroglioma", "start": 154, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.", "output": {"entities": {"gene": [{"text": "LOXL1", "start": 28, "end": 33}], "disease": [{"text": "bladder cancer", "start": 61, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL1", "start": 28, "end": 33}, "tail": {"text": "bladder cancer", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "Genetic and cellular characterizations of human TCF4 with microsatellite instability in colon cancer and leukemia cell lines.", "output": {"entities": {"gene": [{"text": "TCF4", "start": 48, "end": 52}], "disease": [{"text": "microsatellite instability", "start": 58, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of PAR-1 in skin fibrosis, we subjected wild-type and PAR-1-deficient mice to a model of bleomycin-induced skin fibrosis.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 27, "end": 32}], "disease": [{"text": "fibrosis", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "High expression of Sonic hedgehog signaling proteins is related to the favorable outcome, EGFR mutation, and lepidic predominant subtype in primary lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "Sonic hedgehog", "start": 19, "end": 33}], "disease": [{"text": "lung adenocarcinoma", "start": 148, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of CA12 +/CA12 +, CA12 +/CA12-and CA12-/CA12-in the 218 RSV bronchiolitis patients and 303 controls were approximately 11% versus 19%, 55% versus 53% and 34% versus 28%, respectively.", "output": {"entities": {"gene": [{"text": "CA12", "start": 19, "end": 23}], "disease": [{"text": "bronchiolitis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Connective tissue growth factor (CTGF/CCN2) can be induced by various forms of stress such as exposure to high glucose, mechanical load, or hypoxia.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 38, "end": 42}], "disease": [{"text": "hypoxia", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "CAST", "start": 186, "end": 190}], "disease": [{"text": "drinking", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Silencing of cyclin D3 reproduced the cell cycle arrest caused by L-Arg starvation.", "output": {"entities": {"gene": [{"text": "cyclin D3", "start": 13, "end": 22}], "disease": [{"text": "starvation", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.", "output": {"entities": {"gene": [{"text": "PEX", "start": 34, "end": 37}], "disease": [{"text": "X-linked dominant hypophosphatemic rickets", "start": 54, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEX", "start": 34, "end": 37}, "tail": {"text": "X-linked dominant hypophosphatemic rickets", "start": 54, "end": 96}}]}}, "schema": []}
{"input": "Cu, Zn-Superoxide Dismutase-Mediated Redox Regulation of Jumonji Domain Containing 3 Modulates Macrophage Polarization and Pulmonary Fibrosis.", "output": {"entities": {"gene": [{"text": "Cu, Zn-Superoxide Dismutase", "start": 0, "end": 27}], "disease": [{"text": "Pulmonary Fibrosis", "start": 123, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cu, Zn-Superoxide Dismutase", "start": 0, "end": 27}, "tail": {"text": "Pulmonary Fibrosis", "start": 123, "end": 141}}]}}, "schema": []}
{"input": "CRP and IL-6 levels were negatively associated with forced expiratory volume in one second (FEV (1)), forced vital capacity (FVC) and mean forced expiratory flow between 25 and 75% of FVC (FEF (25-75%)).", "output": {"entities": {"gene": [{"text": "CRP", "start": 0, "end": 3}], "disease": [{"text": "forced expiratory volume", "start": 52, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Inheritance of an RNA splicing mutation (G + 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 88, "end": 94}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 214, "end": 244}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 88, "end": 94}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 214, "end": 244}}]}}, "schema": []}
{"input": "In 57 specimens from 49 patients with MPNST (35 sporadic, 14 neurofibromatosis type 1-related), TA was determined using the telomeric repeat amplification protocol, and ALT was detected by assaying ALT-associated promyelocytic leukemia bodies (APB) and terminal restriction fragment (TRF) length distribution.", "output": {"entities": {"gene": [{"text": "TRF", "start": 284, "end": 287}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a haploinsufficiency mechanism and point to a causative role for GLE1 mutations in ALS patients.", "output": {"entities": {"gene": [{"text": "GLE1", "start": 87, "end": 91}], "disease": [{"text": "ALS", "start": 105, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLE1", "start": 87, "end": 91}, "tail": {"text": "ALS", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "Skeletal muscle (red gastrocnemius) mitochondrial-fatty acid oxidation (FAO), mitochondrial-enzyme activity, mitochondrial-morphology, peroxisome proliferator-activated receptor gamma coactivator 1alpha (PGC-1alpha), and peroxisome proliferator-activated receptor delta (PPARdelta) expression and insulin sensitivity (intraperitoneal glucose tolerance tests) were measured.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 204, "end": 214}], "disease": [{"text": "insulin sensitivity", "start": 297, "end": 316}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, carcinomas with elevated pY-STAT5a demonstrated lower apoptosis as measured by the TUNEL assay and the Bcl-2 to Bax ratio, and showed increased expression of the long and short isoforms of the prolactin receptor.", "output": {"entities": {"gene": [{"text": "STAT5a", "start": 41, "end": 47}], "disease": [{"text": "carcinomas", "start": 13, "end": 23}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT5a", "start": 41, "end": 47}, "tail": {"text": "carcinomas", "start": 13, "end": 23}}]}}, "schema": []}
{"input": "Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), DNA sequencing, and immunoblotting analysis revealed that YCC-1 gastric cancer cells overexpressed wild type K-ras, whereas YCC-2 cells had a homozygous mutation in codon 12 from GGT (glycine) to AGT (serine), while SNU-1 cells had a heterozygous mutation to GAT (asparagine) in the identical position.", "output": {"entities": {"gene": [{"text": "GAT", "start": 337, "end": 340}], "disease": [{"text": "gastric cancer", "start": 142, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.", "output": {"entities": {"gene": [{"text": "Atg-7", "start": 80, "end": 85}], "disease": [{"text": "ovarian cancer", "start": 131, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Atg-7", "start": 80, "end": 85}, "tail": {"text": "ovarian cancer", "start": 131, "end": 145}}]}}, "schema": []}
{"input": "Furthermore, evidence from 27 clones of AUG hybrids that were produced between A9 and another human fibroblast line, GM1696, carrying an X/7 chromosome translocation indicated that EGF-binding ability segregates together with human MDHM and two X-linked markers, HPRT and glucose-6-phosphate dehydrogenase (G6PD; D-glucose-6-phosphate: NADP (+) 1-oxidoreductase, EC 1. 1. 1. 49), that are located on the translocation chromosome 7p (+).", "output": {"entities": {"gene": [{"text": "HPRT", "start": 263, "end": 267}], "disease": [{"text": "translocation", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Therefore, tRA treatment and NIS gene transfection are potential tools for the diagnosis and treatment of thyroid cancer.", "output": {"entities": {"gene": [{"text": "NIS", "start": 29, "end": 32}], "disease": [{"text": "thyroid cancer", "start": 106, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NIS", "start": 29, "end": 32}, "tail": {"text": "thyroid cancer", "start": 106, "end": 120}}]}}, "schema": []}
{"input": "Mechanistically, TBK1 silencing reduced FOXO3A binding to the ERα promoter by inducing the translocation of phosphorylated FOXO3A from the nucleus to the cytoplasm.", "output": {"entities": {"gene": [{"text": "TBK1", "start": 17, "end": 21}], "disease": [{"text": "translocation", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The higher EEI per body weight suggests a possible increase of orexigenic mechanisms in untreated IGHD individuals, ensuring greater caloric intake, which would have adaptive advantages for small-sized individuals in environments with limited access to food.", "output": {"entities": {"gene": [{"text": "IGHD", "start": 98, "end": 102}], "disease": [{"text": "body weight", "start": 19, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that WASp plays a crucial role in B10 cell development and that WASp-deficient B10 cells may contribute to autoimmunity in WAS.", "output": {"entities": {"gene": [{"text": "B10", "start": 57, "end": 60}], "disease": [{"text": "autoimmunity", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Neither the CCR2b-+/64I allele nor the SDF1-+/3' A allele, separately or in combination, had a significant impact on survival during the asymptomatic period of HIV infection.", "output": {"entities": {"gene": [{"text": "SDF1", "start": 39, "end": 43}], "disease": [{"text": "asymptomatic", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "ABCA6, ABCA7 and ABCA8 mRNAs were not detected in any tumors, but weak mRNA expression of ABCA10 was detected in all tumors examined.", "output": {"entities": {"gene": [{"text": "ABCA6", "start": 0, "end": 5}], "disease": [{"text": "tumors", "start": 54, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Dietary protein restriction and oral adsorbent AST-120 (AST) have been shown to slow progression of renal disease and attenuate hyperlipidemia in the Imai rats.", "output": {"entities": {"gene": [{"text": "AST", "start": 47, "end": 50}], "disease": [{"text": "renal disease", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer' s disease (N = 88), mild cognitive impairment (N = 32), subjective cognitive complaints (N = 54) and depression/other psychiatric disorders (N = 64).", "output": {"entities": {"gene": [{"text": "alpha-2 macroglobulin", "start": 56, "end": 77}], "disease": [{"text": "depression", "start": 416, "end": 426}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha-2 macroglobulin", "start": 56, "end": 77}, "tail": {"text": "depression", "start": 416, "end": 426}}]}}, "schema": []}
{"input": "For example, procoagulant and antifibrinolytic single nucleotide polymorphisms in the promoter and coding regions have been reported for alpha-thrombin, fibrinogen, factor V, protein C, endothelial protein C receptor, and plasminogen activator inhibitor-1.", "output": {"entities": {"gene": [{"text": "endothelial protein C receptor", "start": 186, "end": 216}], "disease": [{"text": "fibrinogen", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate the feasibility of direct assessment of live, potentially pathogenic, antigen-specific interferon-gamma + CD4 + T cells taken from inflammatory lesions of patients with rheumatic diseases such as ReA.", "output": {"entities": {"gene": [{"text": "CD4", "start": 130, "end": 133}], "disease": [{"text": "rheumatic diseases", "start": 193, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "The breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11. 21, containing the palindromic AT-rich repeat (PATRR) involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24. 13.", "output": {"entities": {"gene": [{"text": "TRC8", "start": 263, "end": 267}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Correlation and factor analyses revealed that mRNA levels for genes that did exhibit differential expression in schizophrenia (MAG, CNP, SOX10, CLDN11, and PMP2), as opposed to those that did not (MOBP and MBP), loaded on separate factors.", "output": {"entities": {"gene": [{"text": "MBP", "start": 206, "end": 209}], "disease": [{"text": "schizophrenia", "start": 112, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MBP", "start": 206, "end": 209}, "tail": {"text": "schizophrenia", "start": 112, "end": 125}}]}}, "schema": []}
{"input": "Therefore, the aim of this study was to determine whether the biallelic NcoI polymorphism within the TNF locus is associated with the development of postoperative complications.", "output": {"entities": {"gene": [{"text": "TNF", "start": 101, "end": 104}], "disease": [{"text": "postoperative complications", "start": 149, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Out of 7 colon carcinoma cell lines, 2 showed gene amplification of cyclin E without gene amplification of CDK2.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 68, "end": 76}], "disease": [{"text": "colon carcinoma", "start": 9, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The results suggested that RHAMM expression may be correlated with tumor aggressiveness and offer clues to the development of new treatments for human OSCCs.", "output": {"entities": {"gene": [{"text": "RHAMM", "start": 27, "end": 32}], "disease": [{"text": "aggressiveness", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "This is the first study to identify genes aberrantly methylated in rat mammary carcinomas, and Angptl4 is a novel methylation-silenced gene both in rat and human mammary carcinomas.", "output": {"entities": {"gene": [{"text": "Angptl4", "start": 95, "end": 102}], "disease": [{"text": "human mammary carcinomas", "start": 156, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angptl4", "start": 95, "end": 102}, "tail": {"text": "human mammary carcinomas", "start": 156, "end": 180}}]}}, "schema": []}
{"input": "Inhibition of cyclooxygenase-2 reduces the protective effect of hepatocyte growth factor in experimental pancreatitis.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 64, "end": 88}], "disease": [{"text": "pancreatitis", "start": 105, "end": 117}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hepatocyte growth factor", "start": 64, "end": 88}, "tail": {"text": "pancreatitis", "start": 105, "end": 117}}]}}, "schema": []}
{"input": "The presence of FGF, VEGF, PDGF-A and TGFbeta RII is modified in the course of I/R-induced acute pancreatitis.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 27, "end": 33}], "disease": [{"text": "acute pancreatitis", "start": 91, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case.", "output": {"entities": {"gene": [{"text": "TKFC", "start": 52, "end": 56}], "disease": [{"text": "developmental delay", "start": 90, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TKFC", "start": 52, "end": 56}, "tail": {"text": "developmental delay", "start": 90, "end": 109}}]}}, "schema": []}
{"input": "We found hRFT2 mutations in 3/6 patients manifesting deafness or abnormal BAERs.", "output": {"entities": {"gene": [{"text": "hRFT2", "start": 9, "end": 14}], "disease": [{"text": "deafness", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Mean preoperative CA-125 levels were not significantly different among BRCA1 (2289 U/ml), BRCA2 (2586 U/ml), and sporadic (3307 U/ml) cases (P = 0. 5).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 90, "end": 95}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 313, "end": 334}], "disease": [{"text": "alcohol use disorders", "start": 115, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "von Willebrand factor", "start": 313, "end": 334}, "tail": {"text": "alcohol use disorders", "start": 115, "end": 136}}]}}, "schema": []}
{"input": "Limited caspase 3 activation and the predominance of ultrastructural features of necrotic cell death suggest a switch from apoptosis to necrosis in affected neurons.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 8, "end": 17}], "disease": [{"text": "necrosis", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Samples of leukemic cell DNA from 14 children with acute nonlymphocytic leukemia (ANLL) and 4 human myeloid leukemia cell lines were analyzed for rearrangement in the heavy chain region of the immunoglobulin gene.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 167, "end": 178}], "disease": [{"text": "myeloid leukemia", "start": 100, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In addition to ischemic stroke, the peripheral S100B level may also be useful as a biomarker for intracerebral hemorrhage (ICH).", "output": {"entities": {"gene": [{"text": "S100B", "start": 47, "end": 52}], "disease": [{"text": "intracerebral hemorrhage", "start": 97, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 47, "end": 52}, "tail": {"text": "intracerebral hemorrhage", "start": 97, "end": 121}}]}}, "schema": []}
{"input": "Amplifiable DNA was obtained from three cases of patients on HAART who died due to primary pathology other than HAD: (1) cardiovascular disease, a disease associated with HAART therapy; (2) bacterial infections, including Mycobacterium avium complex, rapid occurrence of extreme dementia; and (3) acquired immunodeficiency syndrome (AIDS)-related lymphoma with meningeal involvement.", "output": {"entities": {"gene": [{"text": "HAD", "start": 112, "end": 115}], "disease": [{"text": "immunodeficiency syndrome", "start": 306, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "FLT3 deregulation was associated with overexpression of a network of receptor kinases (RKs), potentially responsible for redundancies and sporadic response to specific FLT3 inhibition.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Gastroenteropancreatic (GEP) neuroendocrine carcinomas (NECs) and mixed adenoneuroendocrine carcinomas (MANECs) are heterogeneous neoplasms characterized by poor outcome.", "output": {"entities": {"gene": [{"text": "GEP", "start": 24, "end": 27}], "disease": [{"text": "carcinomas", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We therefore conclude that CMT patients with slightly reduced or nearly normal nerve conduction velocity should be screened for MPZ mutations, particularly when additional clinical features such as marked sensory disturbances, pupillary abnormalities or deafness are also present.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 128, "end": 131}], "disease": [{"text": "deafness", "start": 254, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "In DDX10 and NUP98, the inv (11) breakpoints occurred within two introns of each gene and the two genes merged in-frame to produce the chimeric transcripts characteristic of this translocation.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 13, "end": 18}], "disease": [{"text": "translocation", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "This study showed consistent expression and common mutational activation of PDGFRA in small intestinal inflammatory fibroid polyps as in their gastric counterparts, and these lesions should be considered PDGFRA-driven benign neoplasms.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 76, "end": 82}], "disease": [{"text": "benign neoplasms", "start": 218, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Induction of SAA1 expression was also demonstrated during contact hypersensitivity induced by topical application of oxazolone.", "output": {"entities": {"gene": [{"text": "SAA1", "start": 13, "end": 17}], "disease": [{"text": "contact hypersensitivity", "start": 58, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAA1", "start": 13, "end": 17}, "tail": {"text": "contact hypersensitivity", "start": 58, "end": 82}}]}}, "schema": []}
{"input": "A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.", "output": {"entities": {"gene": [{"text": "SART3", "start": 14, "end": 19}], "disease": [{"text": "disseminated superficial actinic porokeratosis", "start": 52, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SART3", "start": 14, "end": 19}, "tail": {"text": "disseminated superficial actinic porokeratosis", "start": 52, "end": 98}}]}}, "schema": []}
{"input": "A20 deletion and gain at TNFA/B/C locus may thus play an important role in the development of translocation-negative MALT lymphoma.", "output": {"entities": {"gene": [{"text": "TNFA", "start": 25, "end": 29}], "disease": [{"text": "translocation", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Enteric aganglionosis in Hirschsprung disease has been linked to genes coding for endothelin-3 (EDN3) and the endothelin B receptor (EDNRB), but there is no such linkage in most patients with sporadic Hirschsprung disease.", "output": {"entities": {"gene": [{"text": "EDN3", "start": 96, "end": 100}], "disease": [{"text": "sporadic", "start": 192, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to reassess whether the GNB3 rs5443 single nucleotide polymorphism could influence weight reduction and body composition change under sibutramine therapy in 131 obese Taiwanese patients.", "output": {"entities": {"gene": [{"text": "GNB3", "start": 48, "end": 52}], "disease": [{"text": "weight reduction", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The PAX8-PPARG gene fusion results in the production of a Pax-8-PPAR-& #947; fusion protein (PPFP), which is found in approximately one-third of follicular thyroid carcinomas, as well as some follicular-variant papillary thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 9, "end": 14}], "disease": [{"text": "papillary thyroid carcinomas", "start": 211, "end": 239}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PPARG", "start": 9, "end": 14}, "tail": {"text": "papillary thyroid carcinomas", "start": 211, "end": 239}}]}}, "schema": []}
{"input": "Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.", "output": {"entities": {"gene": [{"text": "SLC25A20", "start": 37, "end": 45}], "disease": [{"text": "carnitine-acylcarnitine translocase deficiency", "start": 64, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC25A20", "start": 37, "end": 45}, "tail": {"text": "carnitine-acylcarnitine translocase deficiency", "start": 64, "end": 110}}]}}, "schema": []}
{"input": "It is not known if addition of exogenous CX3CL1 beyond otherwise physiologically normal levels could decrease microglia activation and thereby minimize the secondary neurodegeneration following a neurotoxic insult.", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 41, "end": 47}], "disease": [{"text": "neurodegeneration", "start": 166, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Tumor microenvironmental hypoxia induces hypoxia inducible factor-1α (HIF-1α) overexpression, leading to the release of lysyl oxidase (LOX), which crosslinks collagen at distant sites to facilitate environmental changes that allow cancer cells to easily metastasize.", "output": {"entities": {"gene": [{"text": "LOX", "start": 135, "end": 138}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of MUC5AC reduced the ability of pancreatic cancer cells to adhesion and invasion, suggesting that MUC5AC might contribute to the invasive motility of pancreatic cancer cells by enhancing the expression of integrins, MMP-3, VEGF and activating Erk pathway.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 13, "end": 19}], "disease": [{"text": "adhesion", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Lipocalin-2 levels correlated with insulin resistance (homeostasis model assessment of insulin resistance) and inflammation (CRP) in whole cohorts and NAFLD, whereas cathepsin S and chemerin only correlated positively with insulin resistance and inflammation in whole cohorts.", "output": {"entities": {"gene": [{"text": "CRP", "start": 125, "end": 128}], "disease": [{"text": "insulin resistance", "start": 35, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The results confirmed a major role for hippocampal and hypothalamic NPY system in the pathophysiology of mood disorders.", "output": {"entities": {"gene": [{"text": "NPY", "start": 68, "end": 71}], "disease": [{"text": "mood disorders", "start": 105, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY", "start": 68, "end": 71}, "tail": {"text": "mood disorders", "start": 105, "end": 119}}]}}, "schema": []}
{"input": "In human ALCL cells lentiviral-mediated ALK knock-down leads to G (1) cell-cycle arrest and apoptosis in vitro and tumor growth inhibition and regression in vivo.", "output": {"entities": {"gene": [{"text": "ALK", "start": 40, "end": 43}], "disease": [{"text": "regression", "start": 143, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "As expected, hypoxia (1% pO2) further induced HIF-1α protein levels along with its target genes VEGF and LOX.", "output": {"entities": {"gene": [{"text": "LOX", "start": 105, "end": 108}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "For European Americans, significant differences in individual cases versus controls were observed between FMO3 158 and 257 alleles and genotype frequencies and schizophrenia delusions, hallucinations, and weight gain/increased appetite but this was not observed in a replicated population.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 106, "end": 110}], "disease": [{"text": "delusions", "start": 174, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "NGF is also an inflammatory mediator associated with pain and itch.", "output": {"entities": {"gene": [{"text": "NGF", "start": 0, "end": 3}], "disease": [{"text": "itch", "start": 62, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Two NRAMP 1 polymorphisms, INT4 and 5-(CA) n, were significantly associated with susceptibility to tuberculosis in aboriginals (p = 0. 0070 and p = 0. 0031, respectively).", "output": {"entities": {"gene": [{"text": "INT4", "start": 27, "end": 31}], "disease": [{"text": "susceptibility to tuberculosis", "start": 81, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this article, we report that POU5F1 was fused to EWSR1 in a case of undifferentiated sarcoma derived from pelvic bone with chromosomal translocation t (6; 22) (p21; q12).", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 52, "end": 57}], "disease": [{"text": "chromosomal translocation", "start": 126, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Ovalbumin (OVA)-induced asthma models were used in PAC1R-deficient mice and BALB/c mice treated with PAC1R agonist maxadilan (MAX).", "output": {"entities": {"gene": [{"text": "MAX", "start": 126, "end": 129}], "disease": [{"text": "asthma", "start": 24, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that aberrant methylation and hence silencing of TIMP3, SLC5A8, DAPK and RARbeta2, in association with BRAF mutation, may be an important step in PTC tumorigenesis and progression.", "output": {"entities": {"gene": [{"text": "DAPK", "start": 86, "end": 90}], "disease": [{"text": "tumorigenesis", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Integrin-linked kinase (ILK), an intracellular serine/threonine kinase, is implicated in cell growth and survival, cell-cycle progression, tumor angiogenesis, and cell apoptosis.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 47, "end": 70}], "disease": [{"text": "tumor angiogenesis", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Growth under conditions of osmotic stress and high glucose concentration increased both PLB secretion and subsequent cryptococcal adhesion.", "output": {"entities": {"gene": [{"text": "PLB", "start": 88, "end": 91}], "disease": [{"text": "adhesion", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In addition, DDR also recognizes exogenous genetic material, such as the viral DNA genome entering the nucleus during infections.", "output": {"entities": {"gene": [{"text": "DDR", "start": 13, "end": 16}], "disease": [{"text": "infections", "start": 118, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The present study suggests a possible association of the T/T genotype of GCKR rs1260326 polymorphism with elevated risk of CKD and its interaction with current smoking, which may support the possibility of performing risk evaluation and prevention of this potentially life-threatening disease based on genetic traits in the near future.", "output": {"entities": {"gene": [{"text": "GCKR", "start": 73, "end": 77}], "disease": [{"text": "smoking", "start": 160, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "A decreased percentage of CD29 + and CD11b + lymphocytes was observed in hyperthyroid patients in comparison with Hashimoto' s thyroiditis patients and healthy controls.", "output": {"entities": {"gene": [{"text": "CD29", "start": 26, "end": 30}], "disease": [{"text": "hyperthyroid", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.", "output": {"entities": {"gene": [{"text": "surfactant protein C", "start": 21, "end": 41}], "disease": [{"text": "IPF", "start": 80, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "surfactant protein C", "start": 21, "end": 41}, "tail": {"text": "IPF", "start": 80, "end": 83}}]}}, "schema": []}
{"input": "We found that KGF increases pigment production in both pigmented epidermal equivalents and human skin explants.", "output": {"entities": {"gene": [{"text": "KGF", "start": 14, "end": 17}], "disease": [{"text": "pigment", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Memory decline (100%), aphasia (94%), apraxia (99%), agnosia (94%) and motor dysfunction (90%) appeared in practically all cases with mild (GDS-3), moderate (GDS 3-4) and severe (GDS 6-7) dementia.", "output": {"entities": {"gene": [{"text": "GDS", "start": 140, "end": 143}], "disease": [{"text": "mild", "start": 134, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that one or more variants in the IkappaBalpha gene (NFKBIA) or surrounding untranslated regions would be associated with insulin sensitivity (S (I)) in Hispanic-American families.", "output": {"entities": {"gene": [{"text": "NFKBIA", "start": 68, "end": 74}], "disease": [{"text": "insulin sensitivity", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Cardiac/SMC-specific deletion of YAP directed by SM22α-Cre resulted in perinatal lethality in mice because of profound cardiac defects including hypoplastic myocardium, membranous ventricular septal defect, and double outlet right ventricle.", "output": {"entities": {"gene": [{"text": "YAP", "start": 33, "end": 36}], "disease": [{"text": "double outlet right ventricle", "start": 211, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that mutations in C16orf57 unify a distinct set of families which clinically can be categorized as DC, PN or RTS.", "output": {"entities": {"gene": [{"text": "C16orf57", "start": 41, "end": 49}], "disease": [{"text": "DC", "start": 122, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C16orf57", "start": 41, "end": 49}, "tail": {"text": "DC", "start": 122, "end": 124}}]}}, "schema": []}
{"input": "Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.", "output": {"entities": {"gene": [{"text": "FAM20A", "start": 56, "end": 62}], "disease": [{"text": "Enamel-Renal-Gingival syndrome", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM20A", "start": 56, "end": 62}, "tail": {"text": "Enamel-Renal-Gingival syndrome", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "TNBS-induced colitis was associated with enhanced COX-2 expression in the gut and increased circulating concentrations of PGE2 metabolite (PGEM).", "output": {"entities": {"gene": [{"text": "COX-2", "start": 50, "end": 55}], "disease": [{"text": "colitis", "start": 13, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 50, "end": 55}, "tail": {"text": "colitis", "start": 13, "end": 20}}]}}, "schema": []}
{"input": "We present a CD5-positive, CCND1-negative B-cell lymphoma with a novel translocation involving CCND2 and the immunoglobulin lambda (IGL) gene.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 95, "end": 100}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Global ischemia induces a marked decrease in MOR-1 mRNA and protein expression that is specific to the selectively vulnerable area CA1, as assessed by quantitative real-time RT-PCR, Western blotting, and ChIP.", "output": {"entities": {"gene": [{"text": "CA1", "start": 131, "end": 134}], "disease": [{"text": "ischemia", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Based on this review, these mutations will be classified into two main groups of phenotypes: Fuhrmann and AARRS phenotypes in which there is partial and complete loss of WNT7A functions, respectively.", "output": {"entities": {"gene": [{"text": "WNT7A", "start": 170, "end": 175}], "disease": [{"text": "AARRS", "start": 106, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT7A", "start": 170, "end": 175}, "tail": {"text": "AARRS", "start": 106, "end": 111}}]}}, "schema": []}
{"input": "Genotype-phenotype correlations in MYCN-related Feingold syndrome.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 35, "end": 39}], "disease": [{"text": "Feingold syndrome", "start": 48, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYCN", "start": 35, "end": 39}, "tail": {"text": "Feingold syndrome", "start": 48, "end": 65}}]}}, "schema": []}
{"input": "Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 78, "end": 94}], "disease": [{"text": "leprechaunism", "start": 190, "end": 203}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 78, "end": 94}, "tail": {"text": "leprechaunism", "start": 190, "end": 203}}]}}, "schema": []}
{"input": "We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).", "output": {"entities": {"gene": [{"text": "AMP", "start": 186, "end": 189}], "disease": [{"text": "depression", "start": 73, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 186, "end": 189}, "tail": {"text": "depression", "start": 73, "end": 83}}]}}, "schema": []}
{"input": "We report 4 cases of lymphomas/leukemias with the unusual CD56/CD4 phenotype.", "output": {"entities": {"gene": [{"text": "CD4", "start": 63, "end": 66}], "disease": [{"text": "leukemias", "start": 31, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We also observed interaction between body mass index and IGF1 19 CA repeat (p = 0. 06) and between weight gain and the-202 C > A IGFBP3 polymorphism (p = 0. 05) in NHW post-menopausal women not recently exposed to hormones.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 129, "end": 135}], "disease": [{"text": "weight gain", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Gene conversion may be a frequent cause of 21-hydroxylase deficiency alleles due to the presence of six chi-like sequences (GCTGGGG) in the CYP21 genes and the close proximity of the CYP21A pseudogene, which has several potentially deleterious mutations.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 140, "end": 145}], "disease": [{"text": "21-hydroxylase deficiency", "start": 43, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 140, "end": 145}, "tail": {"text": "21-hydroxylase deficiency", "start": 43, "end": 68}}]}}, "schema": []}
{"input": "Our results demonstrate that sustained overexpression of SRF, in the absence of other stimuli, is sufficient to induce cardiac change and suggest that SRF is likely to be one of the downstream effectors of the signaling pathways involved in mediating cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "SRF", "start": 57, "end": 60}], "disease": [{"text": "cardiac hypertrophy", "start": 251, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "ARHGEF10", "start": 94, "end": 102}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGEF10", "start": 94, "end": 102}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "In conclusion, this study found that ABCC2 and ABCG2 expression levels were altered already in mild/moderate dysplasia in carcinogenesis suggesting that these ABC transporters are involved in the early steps of carcinogenesis as previously reported for ABCB1.", "output": {"entities": {"gene": [{"text": "ABCG2", "start": 47, "end": 52}], "disease": [{"text": "mild", "start": 95, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrated that lower MSH2 expression might contribute to a higher clinic aggressiveness of HNSCC by promoting an unfavorable outcome.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 33, "end": 37}], "disease": [{"text": "aggressiveness", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Our objectives were to analyze the presence of the hypermethylation of EPB41L3, RASSF2 and TSP-1 genes in 132 diffuse gliomas (astrocytic and oligodendroglial tumors) and in 10 cases of normal brain, and to establish their association with the patients' clinicopathological characteristics.", "output": {"entities": {"gene": [{"text": "RASSF2", "start": 80, "end": 86}], "disease": [{"text": "gliomas", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the pattern and level of Gankyrin protein expression using immunohistochemistry in various liver tissues, including normal liver, chronic hepatitis, cirrhosis, adenomatous hyperplasia (AH), and HCC tissues, to analyze its clinicopathological significance.", "output": {"entities": {"gene": [{"text": "HCC", "start": 222, "end": 225}], "disease": [{"text": "chronic hepatitis", "start": 158, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In a multiple regression model for the total population, an increase in CIMT was explained by body mass index, systolic and diastolic blood pressure, and the TNF-308A and CCL2-2518A alleles (r (2) = 0. 321; p = 0. 022).", "output": {"entities": {"gene": [{"text": "CCL2", "start": 171, "end": 175}], "disease": [{"text": "body mass index", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Previously, the cryptic splice variant rs4149601 (G/A) A allele of NEDD4L, generating isoform I, was estimated to decrease blood pressure by downregulating Na (+) reabsorption.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 67, "end": 73}], "disease": [{"text": "blood pressure", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarray slides containing totally 80 cores with 19 tissues of HCC, 1 tissue of hepatocholangiocarcinoma, 10 tissues of liver cirrhosis and 10 normal liver tissues in duplicates were analyzed for expression of RPS27A and YB-1 by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 230, "end": 234}], "disease": [{"text": "hepatocholangiocarcinoma", "start": 89, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The IDUA mutation, c. 712T > A (p. L238Q) was previously noted as a mild mutation.", "output": {"entities": {"gene": [{"text": "IDUA", "start": 4, "end": 8}], "disease": [{"text": "mild", "start": 68, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In ulcerative colitis, tumor progression is similar to that in sporadic colon cancer, and other oncogenes and tumor suppressor genes are likely to be mutated before the p53 gene.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 169, "end": 177}], "disease": [{"text": "sporadic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that NOLC1 plays a role in the regulation of tumorigenesis of NPC and demonstrate that both NOLC1 and tumor protein 53 work together synergistically to activate the MDM2 promoter in NPC cells.", "output": {"entities": {"gene": [{"text": "NOLC1", "start": 28, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed immunophenotypic analysis of peripheral blood NK cells with regard to CD56, CD16, Nkp46, and CD25 markers, as well as IL-10 levels quantification in the sera samples of asymptomatic, H. pylori (Hp)-infected or uninfected individuals, and combined these results with our previous findings on lymphocyte cytotoxic activity.", "output": {"entities": {"gene": [{"text": "Nkp46", "start": 110, "end": 115}], "disease": [{"text": "asymptomatic", "start": 197, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "In view of this putative link, the authors investigated in a series of 63 NSCLCs: 1) the allelic imbalance (AIm) at the D13S171 (BRCA2) locus, 2) the possible relation with tumor kinetics (proliferation [PI] and apoptotic indices [AI]) and chromosomal instability (aneuploidy) of the carcinomas, and 3) the mutual impact of D13S171 AIm and p53 altered status on the above-mentioned parameters.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 129, "end": 134}], "disease": [{"text": "chromosomal instability", "start": 240, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "We analysed (n = 386, controls and n = 384, MetS subjects) for MCP-1 gene polymorphism using PCR-RFLP, its serum level using ELISA, anthropometric (body mass index, waist and hip circumferences, waist-hip ratio and blood pressure) and biochemical (serum lipids, plasma glucose and insulin levels) variables in a genetic association study.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 63, "end": 68}], "disease": [{"text": "body mass index", "start": 148, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "LASV GP binding to DG further resulted in dissociation of the adapter protein utrophin from virus-bound DG.", "output": {"entities": {"gene": [{"text": "utrophin", "start": 78, "end": 86}], "disease": [{"text": "dissociation", "start": 42, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The percentages of MCM5-positive cells were 15. 7% in normal skin, 21. 8% in psoriasis, 75. 9% in BP, 83. 8% in BD, 63. 5% in well-differentiated SCC, 77. 5% in moderately differentiated SCC, 79. 8% in poorly differentiated SCC, and 21. 2% in BCC in average.", "output": {"entities": {"gene": [{"text": "MCM5", "start": 19, "end": 23}], "disease": [{"text": "psoriasis", "start": 77, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Moreover, as the severity of ischemia worsens, a transcriptional and/or translational blockade of the hsp70 gene occurs in the same order so that moderate degrees of ischemia induce HSP70 in CA3 neurons and dentate granule neurons but not necrotic CA1 neurons, and severe ischemia induces HSP70 in capillary endothelial cells of hippocampus but not in any infarcted neurons or glia throughout the hippocampus.", "output": {"entities": {"gene": [{"text": "CA1", "start": 248, "end": 251}], "disease": [{"text": "ischemia", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported an association between variants in the transforming growth factor-alfa gene (TGFA) and human tooth agenesis.", "output": {"entities": {"gene": [{"text": "TGFA", "start": 105, "end": 109}], "disease": [{"text": "tooth agenesis", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "This is the first report demonstrating mutations of MMR genes during the neoplastic transformation of human breast epithelial cells.", "output": {"entities": {"gene": [{"text": "MMR", "start": 52, "end": 55}], "disease": [{"text": "neoplastic transformation", "start": 73, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We expect to detect the mutation in other LS patients from the region, and recommend cost-effective screening for this mutation by restriction fragment length polymorphism-polymerase chain reaction or DNA sequencing of MLH1 Exon5 prior to full genetic testing in all LS suspects of Macedonian ancestry.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 219, "end": 223}], "disease": [{"text": "LS", "start": 42, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLH1", "start": 219, "end": 223}, "tail": {"text": "LS", "start": 42, "end": 44}}]}}, "schema": []}
{"input": "The upstream signals responsible for activation of RhoA/Rho kinase signaling in hypertensive pulmonary arteries and whether or not they differ in different forms of pulmonary hypertension are unclear.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 56, "end": 66}], "disease": [{"text": "pulmonary hypertension", "start": 165, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that P-cadherin is a direct PAX3-FOXO1A transcriptional target involved in ARMS aggressiveness.", "output": {"entities": {"gene": [{"text": "FOXO1A", "start": 58, "end": 64}], "disease": [{"text": "aggressiveness", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "WWOX", "start": 49, "end": 53}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 57, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WWOX", "start": 49, "end": 53}, "tail": {"text": "esophageal squamous cell carcinoma", "start": 57, "end": 91}}]}}, "schema": []}
{"input": "We previously showed that RAE1 depletion caused aneuploidy, which enhanced tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAE1", "start": 26, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We herein report that AQP4 knockout disrupted 4-week fluoxetine (10 mg/kg per day i. p) treatment-induced enhancement of adult mouse hippocampal neurogenesis as well as behavioral improvement under both basal condition and CMS-evoked depressive state.", "output": {"entities": {"gene": [{"text": "AQP4", "start": 22, "end": 26}], "disease": [{"text": "depressive state", "start": 234, "end": 250}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AQP4", "start": 22, "end": 26}, "tail": {"text": "depressive state", "start": 234, "end": 250}}]}}, "schema": []}
{"input": "On the other hand the frequency of IL-1alpha TT-889 genotype (p = 0. 028), IL-1R C pst1 1970 allele (p = 0. 0001) and CC genotype (p = 0. 00006), TNFalpha G-308 allele (p = 0. 0002) and GG genotype (p = 0. 000001) decreased significantly in the patients versus normal subjects. These results suggest that polymorphic variations of these pro-inflammatory cytokines may play an important role in susceptibility of Iranian multiple sclerosis patients.", "output": {"entities": {"gene": [{"text": "pst1", "start": 83, "end": 87}], "disease": [{"text": "multiple sclerosis", "start": 420, "end": 438}]}, "relations": {}}, "schema": []}
{"input": "Unlike melanoma, clear cell sarcoma harbors either a t (12; 22) (q13; q12) recurrent translocation, resulting in an EWSR1/ATF1 chimeric gene, or less commonly a t (2; 22) (q34; q12) translocation fusing EWSR1 and CREB1.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 116, "end": 121}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The current data supports our hypothesis that a positive-feedback loop of sonic hedgehog signaling induced INSM1 through N-myc and INSM1 enhanced N-myc stability contributing to the transformation of human neuroblastoma.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 74, "end": 88}], "disease": [{"text": "neuroblastoma", "start": 206, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "After ovariectomy, the bone mineral density and oestradiol level decreased significantly in the OVX group compared with the NC group (p = 0. 001), whereas the OPGL expression level increased.", "output": {"entities": {"gene": [{"text": "OPGL", "start": 159, "end": 163}], "disease": [{"text": "bone mineral density", "start": 23, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The present study confirms that the rs4402960 of IGF2BP2 gene is a strong candidate for Type 2 diabetes susceptibility and overweight/obesity risk in the Tunisian population.", "output": {"entities": {"gene": [{"text": "IGF2BP2 gene", "start": 49, "end": 61}], "disease": [{"text": "overweight", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Immunoblotting was used to determine the expression level of schwannomin/merlin in 14 human sporadic meningiomas.", "output": {"entities": {"gene": [{"text": "schwannomin", "start": 61, "end": 72}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The molecular pathology of both sporadic and TT-induced HA is characterized by a high rate of K-ras-2 mutations characteristic of oxidative damage (ie, G: C > A: T and G: C > T: A mutations) resulting in two mutated population sets: codon 12 GGT > GAT and GGT > TGT (glycine to aspartic acid and cysteine).", "output": {"entities": {"gene": [{"text": "TGT", "start": 262, "end": 265}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The present study integrated clinical data regarding the occurrence of HVOD, graft versus host disease (GVHD), BU pharmacokinetics and GSTA1, GSTP1, GSTM1, and GSTT1 genotypes of 18 children who received BU in their pre-HSCT conditioning regimen.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 142, "end": 147}], "disease": [{"text": "graft versus host disease", "start": 77, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we propose that dysfunctional MMR promotes UVB-induced tumorigenesis through reduced apoptotic elimination of damaged epidermal cells.", "output": {"entities": {"gene": [{"text": "MMR", "start": 41, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to investigate the role of alpha v-integrin subunit (ITGAV, CD51) in invasion and metastasis of the laryngeal and hypopharyngeal squamous cell carcinomas and to evaluate whether an antisense oligonucleotide sequence (ASONs) targeting ITGAV gene can result in proliferative inhibition and induce to apoptosis of laryngeal carcinoma cell lines (Hep-2).", "output": {"entities": {"gene": [{"text": "ITGAV gene", "start": 266, "end": 276}], "disease": [{"text": "laryngeal carcinoma", "start": 343, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "Embryonic fibroblasts from RECQ1-deficient mice displayed aneuploidy, chromosomal instability, and increased load of DNA damage.", "output": {"entities": {"gene": [{"text": "RECQ1", "start": 27, "end": 32}], "disease": [{"text": "chromosomal instability", "start": 70, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Here we use the Chlamydia muridarum (Cm) lung infection model in IL-10 knockout (KO) mice to test the relationship between IL-10 production and ICOS-L expression by DCs.", "output": {"entities": {"gene": [{"text": "ICOS-L", "start": 144, "end": 150}], "disease": [{"text": "lung infection", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Tpl-2/Cot proto-oncogene encodes a serine threonine kinase and was initially cloned as a provirus insertion site in MoMuLV-induced T cell lymphomas in rats.", "output": {"entities": {"gene": [{"text": "Tpl-2", "start": 0, "end": 5}], "disease": [{"text": "lymphomas", "start": 138, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "mnd2 mice die prematurely as a result of neurodegeneration 30-40 days after birth due to loss of the enzymatic activity of the mitochondrial quality control protease HtrA2/Omi.", "output": {"entities": {"gene": [{"text": "HtrA2", "start": 166, "end": 171}], "disease": [{"text": "neurodegeneration", "start": 41, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "However, statistical difference was observed in the body weight and appetite subscales among genotypes of ARNTL rs2278749 and in the body weight subscale among genotypes of NPAS2 rs2305160.", "output": {"entities": {"gene": [{"text": "ARNTL", "start": 106, "end": 111}], "disease": [{"text": "body weight", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Therefore, research effort has focused on target-specific agents, such as sorafenib, which blocks both the RAF/MEK/ERK signalling pathways and receptors involved in neovascularization and tumor progression, including VEGFR-2 and c-Kit.", "output": {"entities": {"gene": [{"text": "ERK", "start": 115, "end": 118}], "disease": [{"text": "neovascularization", "start": 165, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Combination therapy with GM-CSF and IL-12 represents a promising immunotherapy strategy for treating orthotopic, widespread liver tumors.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 25, "end": 31}], "disease": [{"text": "liver tumors", "start": 124, "end": 136}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GM-CSF", "start": 25, "end": 31}, "tail": {"text": "liver tumors", "start": 124, "end": 136}}]}}, "schema": []}
{"input": "We analyzed 4 cases of cycD2 (+) mantle cell lymphoma with a translocation involving the CCND2 locus, and its differential diagnosis from 35 mature B-cell non-Hodgkin' s lymphomas based on immunohistochemistry, quantitative RT-PCR and FISH analysis.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 89, "end": 94}], "disease": [{"text": "translocation", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "SOD1 (G93A) induces dissociation of MST1 from a redox protein thioredoxin-1 and promotes MST1 activation in spinal cord neurons in a reactive oxygen species-dependent manner.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 0, "end": 4}], "disease": [{"text": "dissociation", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "HIF-1α positively regulates the induction of NFAT5 and Hsp70 by placental hypoxia and NFAT5 stimulates transcription of Hsp70 in response to placental hypoxia in models of human placental hypoxia in vitro.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 55, "end": 60}], "disease": [{"text": "hypoxia", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Autotaxin expression in metastatic deposits and primary carcinomas was four-to tenfold higher than in benign neoplasms or normal thyroid tissue.", "output": {"entities": {"gene": [{"text": "Autotaxin", "start": 0, "end": 9}], "disease": [{"text": "benign neoplasms", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In 2011 immunomodulation with ipilimumab, a monoclonal antibody targeting the ligand CTLA-4, has been approved for patients with advanced melanoma in first-and second-line treatment by the Food and Drug Administration (FDA) and in second-line treatment by the European Medicines Agency (EMA).", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 85, "end": 91}], "disease": [{"text": "melanoma", "start": 138, "end": 146}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CTLA-4", "start": 85, "end": 91}, "tail": {"text": "melanoma", "start": 138, "end": 146}}]}}, "schema": []}
{"input": "CONTEXT: A positive correlation has been reported between the offspring' s birth weight and serum placental GH (coded by GH2) and placental lactogen (coded by CSH1, CSH2) levels in pregnant women.", "output": {"entities": {"gene": [{"text": "GH2", "start": 121, "end": 124}], "disease": [{"text": "birth weight", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Prostaglandin E2 reinforces the activation of Ras signal pathway in lung adenocarcinoma cells via EP3.", "output": {"entities": {"gene": [{"text": "EP3", "start": 98, "end": 101}], "disease": [{"text": "lung adenocarcinoma", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the effect of G870A polymorphism of the CCND1 gene on gastric precancerous condition, on histological chronic gastritis, and on the risk of peptic ulcer diseases.", "output": {"entities": {"gene": [{"text": "CCND1 gene", "start": 81, "end": 91}], "disease": [{"text": "peptic ulcer", "start": 181, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that the status of amphiregulin and TGF-alpha in serum can be an important predictor of the resistance to gefitinib among patients with advanced NSCLC.", "output": {"entities": {"gene": [{"text": "TGF-alpha", "start": 53, "end": 62}], "disease": [{"text": "NSCLC", "start": 162, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF-alpha", "start": 53, "end": 62}, "tail": {"text": "NSCLC", "start": 162, "end": 167}}]}}, "schema": []}
{"input": "Tucaresol did not affect HIV viraemia whereas increases in CD4 + percentages, mainly supported by naive CD4 + cells, were observed.", "output": {"entities": {"gene": [{"text": "CD4", "start": 59, "end": 62}], "disease": [{"text": "viraemia", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Higher erythrocyte sodium-lithium countertransport activity (SLC) is implicated in the development of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "SLC", "start": 61, "end": 64}], "disease": [{"text": "diabetic nephropathy", "start": 102, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We have provided evidence recently for a defect in DNA topoisomerase II in ataxia--telangiectasia (A-T) lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "DNA topoisomerase II", "start": 51, "end": 71}], "disease": [{"text": "telangiectasia", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "A multitude of molecular pathways well-described in carcinogenesis are regulated in part by TFE3 or TFEB proteins, including activation of TGFβ and ETS transcription factors, E-cadherin expression, CD40L-dependent lymphocyte activation, mTORC1 signalling, insulin-dependent metabolism regulation, folliculin signalling, and retinoblastoma-dependent cell cycle arrest.", "output": {"entities": {"gene": [{"text": "folliculin", "start": 297, "end": 307}], "disease": [{"text": "retinoblastoma", "start": 324, "end": 338}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these investigations demonstrate that RHS is also caused by mutations in p63 and that the clinical similarities to AEC syndrome are paralleled by the nature of the inherent mutation.", "output": {"entities": {"gene": [{"text": "p63", "start": 87, "end": 90}], "disease": [{"text": "RHS", "start": 52, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "p63", "start": 87, "end": 90}, "tail": {"text": "RHS", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "By flow cytometry and molecular analyses, we have demonstrated that Th1 cells isolated from the bronchoalveolar lavage (BAL) of patients with sarcoidosis and T cell alveolitis are equipped with CCR6.", "output": {"entities": {"gene": [{"text": "CCR6", "start": 194, "end": 198}], "disease": [{"text": "sarcoidosis", "start": 142, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "OBFC2A/RARA: a novel fusion gene in variant acute promyelocytic leukemia.", "output": {"entities": {"gene": [{"text": "OBFC2A", "start": 0, "end": 6}], "disease": [{"text": "acute promyelocytic leukemia", "start": 44, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OBFC2A", "start": 0, "end": 6}, "tail": {"text": "acute promyelocytic leukemia", "start": 44, "end": 72}}]}}, "schema": []}
{"input": "Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1).", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 122, "end": 128}], "disease": [{"text": "Achondrogenesis type II", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 122, "end": 128}, "tail": {"text": "Achondrogenesis type II", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "RESULTS: In the LQTS patient with torsades de pointes and cardiopulmonary arrest, we identified the novel T473P mutation in the transmembrane nonpore region of KCNH2.", "output": {"entities": {"gene": [{"text": "KCNH2", "start": 160, "end": 165}], "disease": [{"text": "cardiopulmonary arrest", "start": 58, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In this study we used human lung fibroblasts derived from healthy and IPF lungs to examine Simvastatin effects on CTGF gene and protein expression, analyzed by RT-PCR and ELISA, respectively.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 114, "end": 118}], "disease": [{"text": "IPF", "start": 70, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTGF", "start": 114, "end": 118}, "tail": {"text": "IPF", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features.", "output": {"entities": {"gene": [{"text": "SPG20", "start": 18, "end": 23}], "disease": [{"text": "Troyer syndrome", "start": 30, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG20", "start": 18, "end": 23}, "tail": {"text": "Troyer syndrome", "start": 30, "end": 45}}]}}, "schema": []}
{"input": "Correlation of factor VIIa values with factor VII gene polymorphism, fasting and postprandial triglyceride levels, and subclinical carotid atherosclerosis.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 15, "end": 25}], "disease": [{"text": "carotid atherosclerosis", "start": 131, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the consistently significant but flipped association between single nucleotide polymorphism rs760317 and prostate cancer in three independent samples suggests that rs760317 may be in linkage disequilibrium with one or more prostate cancer susceptibility variants in or near FHIT.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 290, "end": 294}], "disease": [{"text": "prostate cancer susceptibility", "start": 239, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "We analyzed minK, e-NOS and ESR1 gene polymorphisms in 40 patients with atrial fibrillation (AF) without major structural heart disease compared to 35 healthy controls.", "output": {"entities": {"gene": [{"text": "ESR1 gene", "start": 28, "end": 37}], "disease": [{"text": "heart disease", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The NET1 gene, but not opioid receptors, is expressed in breast adenocarcinoma cells and may facilitate their migration.", "output": {"entities": {"gene": [{"text": "NET1 gene", "start": 4, "end": 13}], "disease": [{"text": "breast adenocarcinoma", "start": 57, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Peripherally administered IL-1 alpha interferes with scopolamine-induced amnesia in mice.", "output": {"entities": {"gene": [{"text": "IL-1 alpha", "start": 26, "end": 36}], "disease": [{"text": "amnesia", "start": 73, "end": 80}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1 alpha", "start": 26, "end": 36}, "tail": {"text": "amnesia", "start": 73, "end": 80}}]}}, "schema": []}
{"input": "Employing RT-PCR, we have amplified a novel NADPH oxidase isoform Nox1 from human choriocarcinoma BeWo cells.", "output": {"entities": {"gene": [{"text": "Nox1", "start": 66, "end": 70}], "disease": [{"text": "choriocarcinoma", "start": 82, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we demonstrate a 38. 6% differential gene expression overlap with endometrial samples in the midsecretory phase from women with endometriosis, concomitant with similar dysregulation in human disease candidate genes Fos, Nodal, Suclg2, and Kras, among others.", "output": {"entities": {"gene": [{"text": "Suclg2", "start": 240, "end": 246}], "disease": [{"text": "endometriosis", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Suclg2", "start": 240, "end": 246}, "tail": {"text": "endometriosis", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 Hailey-Hailey disease families and three sporadic cases with the disorder.", "output": {"entities": {"gene": [{"text": "ATP2C1", "start": 103, "end": 109}], "disease": [{"text": "Hailey-Hailey disease", "start": 116, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2C1", "start": 103, "end": 109}, "tail": {"text": "Hailey-Hailey disease", "start": 116, "end": 137}}]}}, "schema": []}
{"input": "Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency.", "output": {"entities": {"gene": [{"text": "alpha 1 antitrypsin", "start": 91, "end": 110}], "disease": [{"text": "Weber Christian disease", "start": 48, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 1 antitrypsin", "start": 91, "end": 110}, "tail": {"text": "Weber Christian disease", "start": 48, "end": 71}}]}}, "schema": []}
{"input": "Exposure to denatured collagen IV significantly increased the migration and adhesion of K562 cells, which also resulted in increased activation of DDR1 and AKT.", "output": {"entities": {"gene": [{"text": "AKT", "start": 156, "end": 159}], "disease": [{"text": "adhesion", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "These findings bring insight to the roles of NDRG2 in ischemic-hypoxic injury and provide potential targets for future clinical therapies on stroke.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 45, "end": 50}], "disease": [{"text": "hypoxic", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Most primary Ewing sarcomas of the ileum show the common EWSR1-FLI1 translocation, but EWSR1-FEV could be specific for tumours arising in the ileum and showing better prognosis.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 57, "end": 62}], "disease": [{"text": "translocation", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "None of the CYP11a (tttta) (n) polymorphic alleles was associated with hirsutism.", "output": {"entities": {"gene": [{"text": "CYP11a", "start": 12, "end": 18}], "disease": [{"text": "hirsutism", "start": 71, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "After resolution, we noted increased fibrosis and the accumulation of a variety of T cells subsets (CD4-IFNγ, CD4-IL-17, CD4-IL-10 & CD8-TNFα) in the oviducts.", "output": {"entities": {"gene": [{"text": "IL-17", "start": 114, "end": 119}], "disease": [{"text": "fibrosis", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The identification of a novel heterozygous COL2A1 missense mutation (p. Gly753Asp) in the proband confirms our hypothesis and suggests that DSC may be another type II collagen disorder.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 43, "end": 49}], "disease": [{"text": "DSC", "start": 140, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 43, "end": 49}, "tail": {"text": "DSC", "start": 140, "end": 143}}]}}, "schema": []}
{"input": "As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.", "output": {"entities": {"gene": [{"text": "PSD95", "start": 287, "end": 292}], "disease": [{"text": "major depression", "start": 434, "end": 450}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 287, "end": 292}, "tail": {"text": "major depression", "start": 434, "end": 450}}]}}, "schema": []}
{"input": "The induction of RAR alpha by GM-CSF was also detected in other myeloid leukemia cell lines (THP-1 and KG-1) that showed a synergistic effect similar to that seen in ML-1 cells in response to ATRA + GM-CSF.", "output": {"entities": {"gene": [{"text": "ML-1", "start": 166, "end": 170}], "disease": [{"text": "myeloid leukemia", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "CXCL12 is an estrogen-regulated gene, and notably, estrogen is a major risk factor for endometrial cancer (EC) development.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 13, "end": 36}], "disease": [{"text": "endometrial cancer", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "To examine a possible role of the genetic susceptibility to dioxins in the development of micropenis (MP), we studied the Arg554Lys polymorphism of the gene for aryl hydrocarbon receptor (AHR) and the Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor (AHRR), in 73 boys with MP (34 boys with mild MP from-2. 1 to-2. 5 SD and 39 boys with severe MP below-2. 5 SD) and 80 control males (50 boys and 30 fertile adult males).", "output": {"entities": {"gene": [{"text": "AHRR", "start": 277, "end": 281}], "disease": [{"text": "mild", "start": 317, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "Information about lifetime tobacco and alcohol use was ascertained through questionnaires, and genotypes for GSTM1, GSTT1, and GSTP1 were determined from constitutional DNA.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 127, "end": 132}], "disease": [{"text": "alcohol use", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We conclude that mutations of the FSH receptor or the FSH receptor genotype do not play a pathogenic role in male idiopathic infertility.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 34, "end": 46}], "disease": [{"text": "infertility", "start": 125, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 9, "end": 19}], "disease": [{"text": "sporadic", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Alveolar type II cell (a main progenitor cell of lung adenocarcinoma) expressed only EP4, while human lung adenocarcinoma cells (A549) expressed EP3 as well as EP4.", "output": {"entities": {"gene": [{"text": "EP3", "start": 145, "end": 148}], "disease": [{"text": "lung adenocarcinoma", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "HG upregulated TLR2 and TLR4 mRNA and protein and increased both MyD88 and non-MyD88 pathways, NF-κB p65, inflammatory biomediators, and monocyte adhesion to HMAECs.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 95, "end": 100}], "disease": [{"text": "adhesion", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This study shows that DYT9 and DYT18 are allelic disorders and enlarges the spectrum of GLUT1 phenotypes, now also including slowly progressive spastic paraparesis combined with PED.", "output": {"entities": {"gene": [{"text": "DYT18", "start": 31, "end": 36}], "disease": [{"text": "DYT9", "start": 22, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DYT18", "start": 31, "end": 36}, "tail": {"text": "DYT9", "start": 22, "end": 26}}]}}, "schema": []}
{"input": "The dose-response curve for cocaine-induced convulsions was significantly shifted to the right in NET-KO mice, indicating higher seizure thresholds.", "output": {"entities": {"gene": [{"text": "NET", "start": 98, "end": 101}], "disease": [{"text": "seizure", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "A major consortium study have recently linked BD to hundreds of variations with stronger associations in the MHC region, such as the rs3130297 SNP, located in the NOTCH4 gene, with an additional overlapping association with schizophrenia.", "output": {"entities": {"gene": [{"text": "NOTCH4", "start": 163, "end": 169}], "disease": [{"text": "BD", "start": 46, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOTCH4", "start": 163, "end": 169}, "tail": {"text": "BD", "start": 46, "end": 48}}]}}, "schema": []}
{"input": "PINK1 was absent in cortical Lewy bodies, in neurofibrillary tangles in Alzheimer' s disease, progressive supranuclear palsy and corticobasal degeneration, and in the glial and neuronal alpha-synuclein positive inclusions in multiple system atrophy.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 0, "end": 5}], "disease": [{"text": "neurofibrillary tangles", "start": 45, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Thus a GCDFP-15 positive/TTF-1 negative phenotype may not be indicative of metastatic breast carcinoma in every case.", "output": {"entities": {"gene": [{"text": "GCDFP-15", "start": 7, "end": 15}], "disease": [{"text": "metastatic breast carcinoma", "start": 75, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Pressure also promoted phosphorylation of AKT1 but not AKT2, and expression of a nonphosphorylatable double point mutant prevented pressure-stimulated adhesion.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 42, "end": 46}], "disease": [{"text": "adhesion", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Cone dystrophy 3 (COD3) is a severe dominantly inherited retinal degeneration caused by missense mutations in GUCA1A, the gene encoding Guanylate Cyclase Activating Protein 1 (GCAP1).", "output": {"entities": {"gene": [{"text": "GCAP1", "start": 176, "end": 181}], "disease": [{"text": "retinal degeneration", "start": 57, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Intratracheal instillation of neutralizing anti-interleukin 1 beta antibodies upon induction of lung injury resulted in a dose-dependent reduction in lung injury as assessed by measurements of pulmonary hemorrhage and vascular permeability.", "output": {"entities": {"gene": [{"text": "interleukin 1 beta", "start": 48, "end": 66}], "disease": [{"text": "pulmonary hemorrhage", "start": 193, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "In pediatric T-ALL, we have identified 2 RNA processing genes, that is, HNRNPH1/5q35 and DDX3X/Xp11. 3 as new MLLT10 fusion partners.", "output": {"entities": {"gene": [{"text": "DDX3X", "start": 89, "end": 94}], "disease": [{"text": "T-ALL", "start": 13, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DDX3X", "start": 89, "end": 94}, "tail": {"text": "T-ALL", "start": 13, "end": 18}}]}}, "schema": []}
{"input": "We investigated the clinical relevance of TAZ expression and its functional role in NSCLC tumorigenesis.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 42, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "However, the ability to use both CCR3 and CCR5 (R3R5) was more pronounced in CSF isolates and correlated with high CSF viral load and low CD4 T-cell count.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 33, "end": 37}], "disease": [{"text": "viral load", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that HDAC3 and HDAC4 genes might play a role in the pathophysiology of schizophrenia in a Korean population.", "output": {"entities": {"gene": [{"text": "HDAC3", "start": 25, "end": 30}], "disease": [{"text": "schizophrenia", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC3", "start": 25, "end": 30}, "tail": {"text": "schizophrenia", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and \" Jordan' s anomaly \" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan' s anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance).", "output": {"entities": {"gene": [{"text": "LPIN1", "start": 113, "end": 118}], "disease": [{"text": "partial lipodystrophy", "start": 284, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 171, "end": 176}], "disease": [{"text": "smoking", "start": 248, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Spontaneous skin ulceration and defective T cell function in CD18 null mice.", "output": {"entities": {"gene": [{"text": "CD18", "start": 61, "end": 65}], "disease": [{"text": "skin ulceration", "start": 12, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD18", "start": 61, "end": 65}, "tail": {"text": "skin ulceration", "start": 12, "end": 27}}]}}, "schema": []}
{"input": "Monitoring of TNF-α-induced expression of the adhesion molecules VCAM-1, ICAM-1 and E-selectin by flow cytometry was used to confirm NF-κB inhibition in endothelial cells, and thioglycollate-induced peritonitis in mice to confirm effects in vivo.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 133, "end": 138}], "disease": [{"text": "adhesion", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Thus, using a loss-of-function RNA interference genomic screen, we identified the aberrant expression of hepatocyte growth factor (HGF) as a crucial element in AML pathogenesis.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 105, "end": 129}], "disease": [{"text": "AML", "start": 160, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hepatocyte growth factor", "start": 105, "end": 129}, "tail": {"text": "AML", "start": 160, "end": 163}}]}}, "schema": []}
{"input": "Thus, the RP105/MD-1 complex is a major mediator of adipose tissue inflammation independent of TLR4 signaling and may represent a novel therapeutic target for obesity-associated metabolic disorders.", "output": {"entities": {"gene": [{"text": "RP105", "start": 10, "end": 15}], "disease": [{"text": "inflammation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "CSF2RB", "start": 20, "end": 26}], "disease": [{"text": "schizophrenia", "start": 59, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSF2RB", "start": 20, "end": 26}, "tail": {"text": "schizophrenia", "start": 59, "end": 72}}]}}, "schema": []}
{"input": "The combined treatment of Ad/hTERT-CYLD and a conditionally replicating adenovirus carrying TRAIL gene (ZD55-TRAIL) induced rapid and potent apoptosis in HCC cells, characterized by activation of caspase-3, caspase-8, PARP and the reduction of X-linked inhibitor of apoptosis protein (XIAP).", "output": {"entities": {"gene": [{"text": "HCC", "start": 154, "end": 157}], "disease": [{"text": "adenovirus", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Northern blot analysis revealed that the same level of DNA topoisomerase II mRNA was expressed in ataxia-telangiectasia and control cell lines.", "output": {"entities": {"gene": [{"text": "DNA topoisomerase II", "start": 55, "end": 75}], "disease": [{"text": "telangiectasia", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In sensitivity analysis, the study by Bengtsson K was recognized as the main cause of heterogeneity, which was the only one study with the diagnostic standard for EH as systolic blood pressure (SBP) ≥ 160 mmHg or diastolic blood pressure (DBP) ≥ 90 mmHg.", "output": {"entities": {"gene": [{"text": "DBP", "start": 239, "end": 242}], "disease": [{"text": "systolic blood pressure", "start": 169, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that targeting HSP90 function by 17-AAG may offer a novel therapeutic strategy for ALCL, either as single-agent activity or by combining 17-AAG with conventional or targeted therapeutic schemes.", "output": {"entities": {"gene": [{"text": "HSP90", "start": 36, "end": 41}], "disease": [{"text": "ALCL", "start": 104, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSP90", "start": 36, "end": 41}, "tail": {"text": "ALCL", "start": 104, "end": 108}}]}}, "schema": []}
{"input": "Among all candidate substrates, DPP4 displays highest affinity for NPY, an endogenous anxiolytic neurotransmitter that is suggested as a candidate biomarker in post-traumatic stress disorder (PTSD) and depression.", "output": {"entities": {"gene": [{"text": "DPP4", "start": 32, "end": 36}], "disease": [{"text": "depression", "start": 202, "end": 212}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPP4", "start": 32, "end": 36}, "tail": {"text": "depression", "start": 202, "end": 212}}]}}, "schema": []}
{"input": "Therefore, we examined the parallel effects of urocortin-and hydralazine-induced hypotension on acute inflammation induced by carrageenin in the rat.", "output": {"entities": {"gene": [{"text": "urocortin", "start": 47, "end": 56}], "disease": [{"text": "inflammation", "start": 102, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "urocortin", "start": 47, "end": 56}, "tail": {"text": "inflammation", "start": 102, "end": 114}}]}}, "schema": []}
{"input": "The plasma levels of protein C activity (PC: A), protein C antigen (PC: Ag), factor V: C, factor VIII: C, fibrinogen (FIB), and D-dimer (D-D) were measured.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 90, "end": 101}], "disease": [{"text": "fibrinogen", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "For the first time, we report that RhoE protein levels increase in gastric cancer cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 35, "end": 39}], "disease": [{"text": "gastric cancer", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Compared with those of the shunt group, lung tissue H2S production was lowered by 23. 4%, RMT of the pulmonary artery further increased by 39. 5%, pulmonary artery collagen accumulation became obvious, and pulmonary artery CTGF expression elevated (P < 0. 01) in the shunted rats treated with PPG.", "output": {"entities": {"gene": [{"text": "PPG", "start": 293, "end": 296}], "disease": [{"text": "shunt", "start": 27, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Here, we identify loss-of-function mutations in CCDC114 causing PCD with laterality malformations involving complex heart defects.", "output": {"entities": {"gene": [{"text": "CCDC114", "start": 48, "end": 55}], "disease": [{"text": "PCD", "start": 64, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC114", "start": 48, "end": 55}, "tail": {"text": "PCD", "start": 64, "end": 67}}]}}, "schema": []}
{"input": "To unmask phenotypes, we treated Mtg16 (-/-) mice with dextran sodium sulphate (DSS) or infected them with Citrobacter rodentium and the colons were examined for ulceration and for changes in proliferation, apoptosis and inflammation.", "output": {"entities": {"gene": [{"text": "Mtg16", "start": 33, "end": 38}], "disease": [{"text": "inflammation", "start": 221, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "The regulation of BDNF, trkB, and NGF mRNA was studied by in situ hybridization at 1, 3, 6, and 24 h after induction of limbic motor status epilepticus.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 18, "end": 22}], "disease": [{"text": "status epilepticus", "start": 133, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BDNF", "start": 18, "end": 22}, "tail": {"text": "status epilepticus", "start": 133, "end": 151}}]}}, "schema": []}
{"input": "Mutations in the human p53 tumor suppressor gene are prominently linked to sporadic cancers in breast, lung and other tissues.", "output": {"entities": {"gene": [{"text": "p53 tumor suppressor gene", "start": 23, "end": 48}], "disease": [{"text": "sporadic", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "These disorders include deficiencies of anticoagulant proteins such as protein C, protein S, and antithrombin III, abnormalities of factor V and prothrombin resulting from genetic mutations, and hyperhomocysteinemia.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 97, "end": 113}], "disease": [{"text": "hyperhomocysteinemia", "start": 195, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Additionally, correlations between SHBG levels and SNP genotype, body mass index, non-SHBG-bound testosterone, and insulin resistance estimated by the homeostasis model were determined.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 35, "end": 39}], "disease": [{"text": "body mass index", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our data corroborate a greater detrimental impact of sleep deprivation in PER3 (5/5) compared to PER3 (4/4) carriers.", "output": {"entities": {"gene": [{"text": "PER3", "start": 74, "end": 78}], "disease": [{"text": "sleep deprivation", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.", "output": {"entities": {"gene": [{"text": "BEST1", "start": 0, "end": 5}], "disease": [{"text": "autosomal dominant vitreoretinochoroidopathy", "start": 14, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BEST1", "start": 0, "end": 5}, "tail": {"text": "autosomal dominant vitreoretinochoroidopathy", "start": 14, "end": 58}}]}}, "schema": []}
{"input": "UCP2 and UCP3 could therefore have an important role in body weight regulation and susceptibility to diabetes.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 0, "end": 4}], "disease": [{"text": "body weight", "start": 56, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Processed and enzymatically active LOX, in turn, stimulates Twist transcription, which mediates the MSC-triggered epithelial-to-mesenchymal transition (EMT) of carcinoma cells.", "output": {"entities": {"gene": [{"text": "MSC", "start": 100, "end": 103}], "disease": [{"text": "carcinoma", "start": 160, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The current review focuses on the diagnosis and treatment of both molecularly defined and clinicopathologically assigned categories of atypical MPD: chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, chronic neutrophilic leukemia, chronic basophilic leukemia, chronic eosinophilic leukemia, idiopathic eosinophilia including hypereosinophilic syndrome, systemic mastocytosis, unclassified MPD, and eosinophilic/mast cell disorders associated with mutations of platelet-derived growth factor receptors alpha (PDGFRA) and beta (PDGFRB), FGFR1, and KIT.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 551, "end": 556}], "disease": [{"text": "neutrophilic leukemia, chronic", "start": 224, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein B (apoB) is the sole protein component of low-density lipoprotein (LDL) and is thought to play an important role in atherogenesis.", "output": {"entities": {"gene": [{"text": "Apolipoprotein B", "start": 0, "end": 16}], "disease": [{"text": "atherogenesis", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "It is suggested that BGP is a novel biomarker for carcinogenesis in the intestinal-type gastric carcinoma and in both of the pathways of ACS and the' de novo' colorectal carcinoma.", "output": {"entities": {"gene": [{"text": "BGP", "start": 21, "end": 24}], "disease": [{"text": "carcinogenesis", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "All cells expressed CCR2 mRNA and protein, but in PCa, more aggressive cancer cells such as C4-2B, DU145, and PC3 expressed a higher amount of CCR2 compared with the less aggressive cancer cells such as LNCaP or non-neoplastic PrEC and RWPE-1 cells.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 20, "end": 24}], "disease": [{"text": "non-neoplastic", "start": 212, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "The most significant pathways involved neuronal function (axonal guidance, neuronal systems, and L1 cell adhesion molecule interaction) and the immune system (antigen processing, cell adhesion molecules relevant to T cells, and translocation to immunological synapse).", "output": {"entities": {"gene": [{"text": "L1 cell adhesion molecule", "start": 97, "end": 122}], "disease": [{"text": "translocation", "start": 228, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "In patients with Child A-C liver cirrhosis, however, RBP4 was not correlated with glucose metabolism or other adipokines, such as adiponectin or resistin, but closely linked to the hepatic biosynthetic capacity, fibrotic changes in liver histology, or clinical complications such as portal hypertension.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 53, "end": 57}], "disease": [{"text": "portal hypertension", "start": 283, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "Hepatic OSTalpha and OSTbeta mRNA increased 3-and 32-fold, respectively, in patients with PBC compared with controls, whereas expression of Ostalpha and Ostbeta also increased in the liver of rats and mice following CBDL.", "output": {"entities": {"gene": [{"text": "OSTbeta", "start": 21, "end": 28}], "disease": [{"text": "PBC", "start": 90, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OSTbeta", "start": 21, "end": 28}, "tail": {"text": "PBC", "start": 90, "end": 93}}]}}, "schema": []}
{"input": "The positive rate of CDK4, p27, and E2F-1 was significant between chondrosarcoma and osteochondroma of the jaws (P < 0. 05).", "output": {"entities": {"gene": [{"text": "p27", "start": 27, "end": 30}], "disease": [{"text": "chondrosarcoma", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Systolic blood pressure (SPB), diastolic blood pressure (DPB), and mean arterial pressure (MAP) were significantly decreased by exercise therapy in subjects with the ACE-II and ID genotypes but not in DD subjects.", "output": {"entities": {"gene": [{"text": "SPB", "start": 25, "end": 28}], "disease": [{"text": "diastolic blood pressure", "start": 31, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The Cyr61 gene exhibited the highest response to FLU in rat fetal testis, and we suggested it a promising candidate gene for epispadias in humans, because its protein product promotes proliferation, migration, and adhesion of endothelial cells and fibroblasts.", "output": {"entities": {"gene": [{"text": "Cyr61 gene", "start": 4, "end": 14}], "disease": [{"text": "adhesion", "start": 214, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "CNV in the Fcγ receptor region (FCGR) has been suggested to be associated with rheumatic diseases.", "output": {"entities": {"gene": [{"text": "FCGR", "start": 32, "end": 36}], "disease": [{"text": "rheumatic diseases", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The CT genotype of rs1172822 in the BRSK1 gene is associated with lower serum anti-Müllerian hormone (AMH) levels and a younger predicted age at menopause in adult survivors of childhood cancer.", "output": {"entities": {"gene": [{"text": "AMH", "start": 102, "end": 105}], "disease": [{"text": "age at menopause", "start": 138, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This study explores the putative impact of known HY-presenting HLA alleles on future pregnancy outcome in women with at least three consecutive miscarriages following a birth [secondary recurrent miscarriage (SRM)].", "output": {"entities": {"gene": [{"text": "SRM", "start": 209, "end": 212}], "disease": [{"text": "recurrent miscarriage", "start": 186, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The deletions of Rb, ARHI, and FAT, as well as amplification of N-myc, FASL, GITRL, and EGFR, may be the crucial factors for tumorigenesis and the aggressive biological behavior of PPNET.", "output": {"entities": {"gene": [{"text": "FAT", "start": 31, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The mean PI was 9. 32% +/-4. 41% while the mean SPF was 2. 79% +/-2. 43% in 58 meningioma specimens.", "output": {"entities": {"gene": [{"text": "SPF", "start": 48, "end": 51}], "disease": [{"text": "meningioma", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "To report a unique case of PSIS with a maternally inherited nonsense mutation in the SHH signaling protein CDON.", "output": {"entities": {"gene": [{"text": "CDON", "start": 107, "end": 111}], "disease": [{"text": "PSIS", "start": 27, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDON", "start": 107, "end": 111}, "tail": {"text": "PSIS", "start": 27, "end": 31}}]}}, "schema": []}
{"input": "FLG mutations combined with eczema in the first year of life are associated with a later development of asthma and hay fever, a clear example of the atopic march.", "output": {"entities": {"gene": [{"text": "FLG", "start": 0, "end": 3}], "disease": [{"text": "hay fever", "start": 115, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.", "output": {"entities": {"gene": [{"text": "NF2", "start": 46, "end": 49}], "disease": [{"text": "meningiomas", "start": 83, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF2", "start": 46, "end": 49}, "tail": {"text": "meningiomas", "start": 83, "end": 94}}]}}, "schema": []}
{"input": "EWS and ATF-1 gene fusion induced by t (12; 22) translocation in malignant melanoma of soft parts.", "output": {"entities": {"gene": [{"text": "EWS", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The insertion/deletion angiotensin converting enzyme (ACE) gene polymorphism has recently been linked with lower lean body mass in cancer patients with cachexia.", "output": {"entities": {"gene": [{"text": "ACE", "start": 54, "end": 57}], "disease": [{"text": "lean body mass", "start": 113, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In HCC cells, starvation also activated the phosphatidylinositol 3-kinase (PI3K)/AKT pathway, which blocks the translocation of DRAM to mitochondria through the binding of p-AKT to DRAM in the cytoplasm.", "output": {"entities": {"gene": [{"text": "HCC", "start": 3, "end": 6}], "disease": [{"text": "translocation", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "FLG 2282del4 was significantly associated with hay fever from the age 5 years onwards (OR = 3. 9; 95% CI: 1. 5-10. 5).", "output": {"entities": {"gene": [{"text": "FLG", "start": 0, "end": 3}], "disease": [{"text": "hay fever", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "TGF-alpha and EGF-R immunoreactive proteins were detected in foci of cellular proliferation and in areas of intraalveolar fibrosis.", "output": {"entities": {"gene": [{"text": "EGF", "start": 14, "end": 17}], "disease": [{"text": "fibrosis", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, IL-17A administration suppressed phosphorylation of signal transducer and activator of transcription 3, a central mediator of fibrosis, upregulated anti-inflammatory microglia/macrophage WAP domain protein in an AMP-activated protein kinase-dependent manner and favorably modulated renal oxidative stress and AMP-activated protein kinase activation.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 17, "end": 23}], "disease": [{"text": "fibrosis", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "These data establish a novel mechanism of breast tumor initiation involving IMP3 and they provide a rationale for its association with aggressive disease and poor outcome.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 76, "end": 80}], "disease": [{"text": "tumor initiation", "start": 49, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "MTM1 mutations in X-linked myotubular myopathy.", "output": {"entities": {"gene": [{"text": "MTM1", "start": 0, "end": 4}], "disease": [{"text": "X-linked myotubular myopathy", "start": 18, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTM1", "start": 0, "end": 4}, "tail": {"text": "X-linked myotubular myopathy", "start": 18, "end": 46}}]}}, "schema": []}
{"input": "Compared with CA125, HE4 assay demonstrated an improved ability to discriminate between pelvic mass with malignant and benign disease.", "output": {"entities": {"gene": [{"text": "CA125", "start": 14, "end": 19}], "disease": [{"text": "pelvic mass", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "BRCA1 has a role in maintaining normal nuclear DNA content during cell division and its inactivation may result in DNA aneuploidy and cancer progression.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "aneuploidy", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Analysis of normal and colon cancer tissues reveals downregulation of PKD1 expression in advanced stages of colon cancer and its co-localization with β-catenin in the colon crypts.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 70, "end": 74}], "disease": [{"text": "colon cancer", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "A recent genome-wide study of drug dependence identified an association between cocaine-induced paranoia (CIP) and a single-nucleotide polymorphism (SNP) in the alpha-endomannosidase (MANEA) locus in a family-based sample of European Americans and African Americans.", "output": {"entities": {"gene": [{"text": "MANEA", "start": 184, "end": 189}], "disease": [{"text": "drug dependence", "start": 30, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The recurrent t (11; 20) (p15; q11) chromosomal translocation results in generation of the NUP98/TOP1 chimeric gene.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 91, "end": 96}], "disease": [{"text": "chromosomal translocation", "start": 36, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization using a commercially available diagnostic probe was negative for an EWS gene rearrangement; instead, break-apart fluorescence in situ hybridization probes for FUS and FEV were positive for a translocation involving these genes.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 103, "end": 111}], "disease": [{"text": "translocation", "start": 226, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control study where 132 SLE patients, 505 rheumatoid arthritis (RA) patients, and 546 controls were genotyped for four SNPs in the IAN5 gene.", "output": {"entities": {"gene": [{"text": "IAN5", "start": 151, "end": 155}], "disease": [{"text": "rheumatoid arthritis", "start": 62, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Remarkably, the only two genes that showed decreased expression in both mutants were v-ski sarcoma viral oncogene homolog (Ski), and Zic1, a transcription factor member of the zinc finger family.", "output": {"entities": {"gene": [{"text": "Zic1", "start": 133, "end": 137}], "disease": [{"text": "sarcoma", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Our data establish PRKAG2 mutations as a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiological findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe, Danon, and other glycogen storage diseases.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 19, "end": 25}], "disease": [{"text": "fibrosis", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "There was a consistent trend to reduction of pre-established intraprostatic RM1 tumors.", "output": {"entities": {"gene": [{"text": "RM1", "start": 76, "end": 79}], "disease": [{"text": "tumors", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "VIT", "start": 670, "end": 673}], "disease": [{"text": "systemic lupus erythematosus", "start": 585, "end": 613}]}, "relations": {}}, "schema": []}
{"input": "Our findings emphasize that PRRT2 mutations might be responsible of both BFIS and ICCA, but might be causative also for sporadic cases of benign infantile seizures.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 28, "end": 33}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarrays contained primary cancer, normal stomach, intestinal metaplasia, and gastric epithelial dysplasia and were probed with antibodies against nine potential markers that were either identified in a database of genes overexpressed in gastric adenocarcinoma or were already of interest to our laboratory: claudin-4, mitogen-activated protein kinase kinase 4 (MKK4), 14-3-3sigma (stratifin), S100A4, mesothelin, fascin, topoisomerase IIalpha, HER-2/neu, and epithelial growth factor receptor.", "output": {"entities": {"gene": [{"text": "mesothelin", "start": 412, "end": 422}], "disease": [{"text": "epithelial dysplasia", "start": 96, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome.", "output": {"entities": {"gene": [{"text": "HoxD11", "start": 53, "end": 59}], "disease": [{"text": "absent radius", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The serotonin transporter gene (SLC6A4, MIM 182138) is a candidate gene in autistic disorder based on neurochemical, neuroendocrine studies and the efficacy of potent serotonin transporter inhibitors in reducing ritualistic behaviors and related aggression.", "output": {"entities": {"gene": [{"text": "MIM", "start": 40, "end": 43}], "disease": [{"text": "autistic disorder", "start": 75, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Also, our second hit, ADAM10, targeted by miR-122-5p, is a major determinant of HER2 shedding causing that trastuzumab cannot bind to HER2 receptors.", "output": {"entities": {"gene": [{"text": "ADAM10", "start": 22, "end": 28}], "disease": [{"text": "hit", "start": 17, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 27, "end": 31}], "disease": [{"text": "Marfan syndrome", "start": 75, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 27, "end": 31}, "tail": {"text": "Marfan syndrome", "start": 75, "end": 90}}]}}, "schema": []}
{"input": "Our results show significantly higher (p < 0. 001) expression of CCR9 and CCL25 in serous adenocarcinoma followed by serous papillary cystadenoma, endometrioid adenocarcinoma, mucinous adenocarcinoma, cystadenoma, mucinous boderline adenocarcinoma, clear cell carcinoma, granulosa cell tumor, dysgerminoma, transitional cell carcinoma, Brenner tumor, yolk sac tumor, adenocarcinoma and fibroma cases, compared to non-neoplastic ovarian tissue.", "output": {"entities": {"gene": [{"text": "CCR9", "start": 65, "end": 69}], "disease": [{"text": "mucinous adenocarcinoma", "start": 176, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "They include cardiac disease, vascular abnormalities, endothelial damage, infectious diseases, collagen tissue diseases, certain inborn errors of metabolism and anticardiolipin antibody, lupus anticoagulant and deficiencies of protein C, protein S, antithrombin or plasminogen.", "output": {"entities": {"gene": [{"text": "protein S", "start": 238, "end": 247}], "disease": [{"text": "inborn errors of metabolism", "start": 129, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.", "output": {"entities": {"gene": [{"text": "SGCE", "start": 63, "end": 67}], "disease": [{"text": "Myoclonus-dystonia", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGCE", "start": 63, "end": 67}, "tail": {"text": "Myoclonus-dystonia", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Expressions of Cks1 and Cks2 at both mRNA and protein levels were significantly higher in HCC than those in the adjacent noncancerous tissues (including chronic hepatitis and cirrhosis) and normal liver tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 90, "end": 93}], "disease": [{"text": "chronic hepatitis", "start": 153, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We show that GRIM-1 isoforms interact with NAF1 and DKC1, two essential proteins required for box H/ACA sno/sca RNP biogenesis and suppresses box H/ACA RNA levels in mammalian cells by delocalizing NAF1.", "output": {"entities": {"gene": [{"text": "NAF1", "start": 43, "end": 47}], "disease": [{"text": "sca", "start": 108, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Magnesium (Mg) supplementation decreased blood pressure, ameliorated cardiac hypertrophy, protected against the development of Ang II-induced myocardial damage and increased serum ionized Mg2 + concentration (all variables P < 0. 05).", "output": {"entities": {"gene": [{"text": "Mg2", "start": 188, "end": 191}], "disease": [{"text": "cardiac hypertrophy", "start": 69, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The EWS/TEC gene fusion generated by the t (9; 22) chromosomal translocation found in extraskeletal myxoid chondrosarcomas encodes a fusion protein containing the amino-terminal domain of the EWS protein fused to the whole coding sequence of the orphan nuclear receptor TEC.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "chromosomal translocation", "start": 51, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In summary, SPP1 promoter methylation is a novel and independent prognostic parameter in GISTs, and might be helpful in estimating the aggressiveness of GISTs from the intermediate-risk category.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 12, "end": 16}], "disease": [{"text": "aggressiveness", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "To the best of our knowledge, this represents the first demonstration of a somatic biallelic inactivation of the NF1 gene in neurofibroma, providing further evidence for the importance of NF1 inactivation also in sporadic neurofibromas.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 113, "end": 121}], "disease": [{"text": "sporadic", "start": 213, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Since taxanes are often used in the treatment of breast cancer, we carried out a mutational analysis of the class I beta-tubulin (GenBank accession AF070600) gene in breast cancer.", "output": {"entities": {"gene": [{"text": "class I beta-tubulin", "start": 108, "end": 128}], "disease": [{"text": "breast cancer", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS Our results suggest that the BDNF (Met) single-nucleotide polymorphism might contribute to the increased susceptibility to the Stage III-IV endometriosis and endometriosis-related infertility.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 41, "end": 45}], "disease": [{"text": "infertility", "start": 192, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Quantification by isoform specific real-time PCR revealed higher expression of AKR1C1 in nine specimens and higher expression of AKR1C3 in four specimens of endometrial cancer.", "output": {"entities": {"gene": [{"text": "AKR1C3", "start": 129, "end": 135}], "disease": [{"text": "endometrial cancer", "start": 157, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1C3", "start": 129, "end": 135}, "tail": {"text": "endometrial cancer", "start": 157, "end": 175}}]}}, "schema": []}
{"input": "The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy.", "output": {"entities": {"gene": [{"text": "RAF1", "start": 124, "end": 128}], "disease": [{"text": "asymptomatic", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that K13 upregulates the expression of a number of NF-κB responsive genes involved in cytokine signaling, cell death, adhesion, inflammation and immune response, including two NF-κB subunits involved in the alternate NF-κB pathway, RELB and NFKB2.", "output": {"entities": {"gene": [{"text": "RELB", "start": 247, "end": 251}], "disease": [{"text": "inflammation", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "These observations indicate that EPA attenuates arterial medial calcification through an effect associated with the suppression of MMP-9 activity and inhibition of macrophage infiltration as well as osteogenic protein expression in warfarin-induced rat models.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 131, "end": 136}], "disease": [{"text": "calcification", "start": 64, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 131, "end": 136}, "tail": {"text": "calcification", "start": 64, "end": 77}}]}}, "schema": []}
{"input": "A statistically significant correlation between TS expression and ¹⁸F-FDG uptake was observed in thoracic neoplasms, in particular primary lung adenocarcinomas, high-grade NE tumors, thymomas and MPMs.", "output": {"entities": {"gene": [{"text": "FDG", "start": 70, "end": 73}], "disease": [{"text": "thoracic neoplasms", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "More complicated mechanisms may be Involved when brain calcinosis is present but calcium, phosphorus, and parathyroid hormone metabolism abnormalities are absent.", "output": {"entities": {"gene": [{"text": "parathyroid hormone", "start": 106, "end": 125}], "disease": [{"text": "calcinosis", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "BRCA2 tumors exhibited a significantly higher number of chromosomal aberrations than sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "It was concluded that decrease in human Cdx1 and/or Cdx2 expression is associated with colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cdx2", "start": 52, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "However, the molecular mechanism behind the SGEF regulation of prostate cancer development is not known.", "output": {"entities": {"gene": [{"text": "SGEF", "start": 44, "end": 48}], "disease": [{"text": "prostate cancer", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In the vessel wall, the loss of Akt1 increases inflammatory mediators and reduces eNOS phosphorylation, suggesting that Akt1 exerts vascular protection against atherogenesis.", "output": {"entities": {"gene": [{"text": "Akt1", "start": 32, "end": 36}], "disease": [{"text": "atherogenesis", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Strikingly, we identified TGFβ2 as a key growth promoter of CD44 (hi) cells that survived chemotherapy but also as a growth inhibitor of cells that survived hypoxia.", "output": {"entities": {"gene": [{"text": "CD44", "start": 60, "end": 64}], "disease": [{"text": "hypoxia", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Pharmacologic inhibition of MEK1/2 led to decreased thyroid size, restoration of thyroid form and function, and inhibition of tumorigenesis.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 28, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity mapping in a consanguineous family with three affected children with progressive cerebellar ataxia and atrophy revealed a candidate locus on chromosome 1, containing the CABC1/ADCK3 (the chaperone, ABC1 activity of bc1 complex homologue) gene.", "output": {"entities": {"gene": [{"text": "ADCK3", "start": 189, "end": 194}], "disease": [{"text": "atrophy", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "PDXs from BRCA2 tumours showed increased incidence of IDC-P compared with sporadic PCa (p = 0. 015).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 10, "end": 15}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "PMN were manipulated in the following four ways: (1) inhibition of oxygen-free radicals using manganese superoxide dismutase and catalase (SOD/CAT), (2) antagonism of PMN elastase using secretory leukocyte protease inhibitor (SLPI), (3) neutropenia using PMN antisera, and (4) inhibition of activation and adhesion using interleukin-1 receptor antagonist (IL-1ra) and tumor necrosis factor binding protein (TNFbp).", "output": {"entities": {"gene": [{"text": "CAT", "start": 143, "end": 146}], "disease": [{"text": "adhesion", "start": 306, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "The study does not bring evidence for a role for RBP4 in the regulation of diet-induced changes in insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 49, "end": 53}], "disease": [{"text": "insulin sensitivity", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Combining the crucial role that zinc plays in cell growth and the proven role of metalloproteases in metastasis presents an exciting indication of how LIV-1 plays a role in breast cancer progression.", "output": {"entities": {"gene": [{"text": "LIV-1", "start": 151, "end": 156}], "disease": [{"text": "breast cancer", "start": 173, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LIV-1", "start": 151, "end": 156}, "tail": {"text": "breast cancer", "start": 173, "end": 186}}]}}, "schema": []}
{"input": "Mutations of p53 and PTCH gene, two candidate tumor suppressor genes for basal cell carcinoma (BCC), were screened in 15 cases of sporadic BCCs that developed in sun-exposed skin region in a Korean population.", "output": {"entities": {"gene": [{"text": "p53", "start": 13, "end": 16}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Unique environmental effects on borderline personality, however, were not completely shared with those for the FFM traits (33% is unique to borderline personality).", "output": {"entities": {"gene": [{"text": "FFM", "start": 111, "end": 114}], "disease": [{"text": "borderline personality", "start": 32, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The NTRK1 gene in the q arm of chromosome 1 encodes one of the receptors for the nerve growth factor and is frequently activated as an oncogene in papillary thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 4, "end": 9}], "disease": [{"text": "papillary thyroid carcinomas", "start": 147, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTRK1", "start": 4, "end": 9}, "tail": {"text": "papillary thyroid carcinomas", "start": 147, "end": 175}}]}}, "schema": []}
{"input": "The patients showed MRI alterations: (1) in the mother, abnormal hyperintense pallida and cortical cerebral/cerebellar atrophy; and (2) in the son, small hyperintense foci in the cerebellum and subtle enlargement of the fourth ventricle.", "output": {"entities": {"gene": [{"text": "MRI", "start": 20, "end": 23}], "disease": [{"text": "enlargement", "start": 201, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene.", "output": {"entities": {"gene": [{"text": "FA2H gene", "start": 184, "end": 193}], "disease": [{"text": "white matter disease", "start": 124, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of DAZ microdeletions in 34 infertile men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 14, "end": 17}], "disease": [{"text": "infertile", "start": 39, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "To improve cytologic diagnostic accuracy for translocation-associated sarcomas, we explored dual-color break-apart (dc) chromogenic in situ hybridization (CISH) on liquid-based cytology (LBC) samples of 2 prototypic sarcomas: synovial sarcoma (SS) and Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET).", "output": {"entities": {"gene": [{"text": "LBC", "start": 187, "end": 190}], "disease": [{"text": "primitive neuroectodermal tumor", "start": 266, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Deficiency of GPIb or GPIX results in Bernard-Soulier syndrome (BSS), a bleeding disorder in which platelets are giant and have multiple functional defects.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 22, "end": 26}], "disease": [{"text": "giant", "start": 113, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The most frequent cause of familial clear cell renal cell carcinoma (RCC) is von Hippel-Lindau disease and the VHL tumor suppressor gene (TSG) is inactivated in most sporadic clear cell RCC.", "output": {"entities": {"gene": [{"text": "TSG", "start": 138, "end": 141}], "disease": [{"text": "clear cell renal cell carcinoma", "start": 36, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Remodeling of extracellular matrix (ECM) plays an important role in both atherosclerosis and aneurysm disease.", "output": {"entities": {"gene": [{"text": "ECM", "start": 36, "end": 39}], "disease": [{"text": "aneurysm", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "CEBPA mutation is apparently the primary event in the development of AML in this family.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 0, "end": 5}], "disease": [{"text": "AML", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEBPA", "start": 0, "end": 5}, "tail": {"text": "AML", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "European combined analysis of the CTG18. 1 and the ERDA1 CAG/CTG repeats in bipolar disorder.", "output": {"entities": {"gene": [{"text": "ERDA1", "start": 51, "end": 56}], "disease": [{"text": "bipolar disorder", "start": 76, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERDA1", "start": 51, "end": 56}, "tail": {"text": "bipolar disorder", "start": 76, "end": 92}}]}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "SLC4A1", "start": 262, "end": 268}], "disease": [{"text": "hyperlipidemia", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Mutations in FEZF1 cause Kallmann syndrome.", "output": {"entities": {"gene": [{"text": "FEZF1", "start": 13, "end": 18}], "disease": [{"text": "Kallmann syndrome", "start": 25, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FEZF1", "start": 13, "end": 18}, "tail": {"text": "Kallmann syndrome", "start": 25, "end": 42}}]}}, "schema": []}
{"input": "Identification of mutations in the AVPR2 gene can facilitate early diagnosis of NDI, which can prevent serious complications such as growth retardation and mental retardation.", "output": {"entities": {"gene": [{"text": "AVPR2", "start": 35, "end": 40}], "disease": [{"text": "NDI", "start": 80, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AVPR2", "start": 35, "end": 40}, "tail": {"text": "NDI", "start": 80, "end": 83}}]}}, "schema": []}
{"input": "We conclude that the hypolipidemic effects of simvastatin in patients with heterozygous familial hypercholesterolemia are paralleled by a decrease in urinary mevalonate, but that the drug does not adversely affect ACTH-stimulated adrenal corticosteroid production.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 214, "end": 218}], "disease": [{"text": "familial hypercholesterolemia", "start": 88, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptor.", "output": {"entities": {"gene": [{"text": "beta-3-adrenergic receptor", "start": 162, "end": 188}], "disease": [{"text": "insulin resistance", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Multiple microsatellite alterations and topographic intratumor heterogeneity characterize malignant pheochromocytomas, suggesting a multistep tumorigenesis through somatic topographic down-regulation of MMR proteins.", "output": {"entities": {"gene": [{"text": "MMR", "start": 203, "end": 206}], "disease": [{"text": "tumorigenesis", "start": 142, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The PRNP and PRND expression profiles were evaluated by real-time reverse transcription-quantitative PCR in low-and high-grade astrocytomas, in glioblastoma-derived cell lines and in non-glial tumor specimens.", "output": {"entities": {"gene": [{"text": "PRND", "start": 13, "end": 17}], "disease": [{"text": "glioblastoma", "start": 144, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness.", "output": {"entities": {"gene": [{"text": "EVA", "start": 102, "end": 105}], "disease": [{"text": "deafness", "start": 209, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Association of TNFSF11 gene promoter polymorphisms with bone mineral density in postmenopausal women.", "output": {"entities": {"gene": [{"text": "TNFSF11 gene", "start": 15, "end": 27}], "disease": [{"text": "bone mineral density", "start": 56, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Haploinsufficiency of Anx7 tumor suppressor gene and consequent genomic instability promotes tumorigenesis in the Anx7 (+/-) mouse.", "output": {"entities": {"gene": [{"text": "Anx7", "start": 22, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These encouraging observations led to the initiation of two large, prospective, placebo-controlled randomised clinical trials whose primary outcome is the prevention of type 2 diabetes: the DREAM (Diabetes REduction Approaches with ramipril and rosiglitazone Medications) trial with the ACE inhibitor ramipril and the NAVIGATOR (Nateglinide And Valsartan in Impaired Glucose Tolerance Outcomes Research) trial with the ARA valsartan.", "output": {"entities": {"gene": [{"text": "DREAM", "start": 190, "end": 195}], "disease": [{"text": "type 2 diabetes", "start": 169, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Moreover, emerging data indicate that TRPV1 antagonists could also be useful in treating disorders other than pain, such as urinary urge incontinence, chronic cough and irritable bowel syndrome.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 38, "end": 43}], "disease": [{"text": "urinary urge incontinence", "start": 124, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVES: We sought (i) to examine the effect of allergen inhalation challenge on expression levels of receptors for TSLP (thymic stromal lymphopoietin receptor [TSLPR] and CD127) and IL-33 (ST2) and (ii) investigate the functional effects of these cytokines on HPCs.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 119, "end": 123}], "disease": [{"text": "inhalation", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Female mice carrying mutated FSHR gene, called follitropin receptor knockout (FORKO), display similar phenotype and are sterile because of a folliculogenesis block at a primary stage.", "output": {"entities": {"gene": [{"text": "FSHR gene", "start": 29, "end": 38}], "disease": [{"text": "sterile", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Because of the strong mesothelin expression in nonmucinous carcinomas of the ovary, but not in a variety of tumors with which these lesions may be confused (eg, clear cell carcinoma of the ovary versus endodermal sinus tumor or renal cell carcinoma, clear cell type; transitional cell carcinoma of the ovary versus TCC of the urinary tract), immunostaining for this marker could be useful in establishing the differential diagnosis.", "output": {"entities": {"gene": [{"text": "mesothelin", "start": 22, "end": 32}], "disease": [{"text": "clear cell carcinoma", "start": 161, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We report here that hypoxia inhibits mRNA translation by suppressing multiple key regulators, including eIF2alpha, eEF2, and the mammalian target of rapamycin (mTOR) effectors 4EBP1, p70S6K, and rpS6, independent of HIF.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 129, "end": 158}], "disease": [{"text": "hypoxia", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "In contrast, lysophosphatidic acid (LPA), a glycerol backbone phospholipid mediator present in serum and ascites of ovarian cancer patients, is a potent inducer of GROalpha expression in ovarian cancer cell lines.", "output": {"entities": {"gene": [{"text": "LPA", "start": 36, "end": 39}], "disease": [{"text": "ascites", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The roles of CDX2 and GCC in suppressing intestinal tumorigenesis, universal disruption in their signaling through silencing of hormones driving GCC, and the uniform overexpression of GCC by tumors underscore the potential value of oral replacement with GCC ligands as targeted prevention and therapy for colorectal cancer.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 13, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Together, these human and animal data support the hypothesis that an early age of drinking onset upregulates RAGE/TLR4-HMGB1 and other neuroimmune genes that persist into young adulthood and could contribute to risk of alcoholism or other brain diseases associated with neuroinflammation.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 119, "end": 124}], "disease": [{"text": "alcoholism", "start": 219, "end": 229}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGB1", "start": 119, "end": 124}, "tail": {"text": "alcoholism", "start": 219, "end": 229}}]}}, "schema": []}
{"input": "The VEGF/KDR system jointly contributes to recurrent miscarriage in Taiwanese Han women.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 4, "end": 8}], "disease": [{"text": "miscarriage", "start": 53, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP).", "output": {"entities": {"gene": [{"text": "POMT2", "start": 323, "end": 328}], "disease": [{"text": "neuromuscular diseases", "start": 220, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "AIM: To compare the gene expressional levels of receptors for activins and inhibins in ovarian tissues between women with polycystic ovary syndrome (PCOS) and normal controls, and to analyze their biologically relevant associations with serum hormone levels.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "polycystic ovary syndrome", "start": 122, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We propose that the expression of selected RNA-based HIV-1 inhibitors in the CD4 + cells derived from GM-HSPC will protect them from HIV-1 infection and results in a sufficient immune repertoire to control HIV-1 viremia resulting in a functional cure for HIV-1/AIDS.", "output": {"entities": {"gene": [{"text": "CD4", "start": 77, "end": 80}], "disease": [{"text": "viremia", "start": 212, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "A specific inhibitor for Src family kinases, PP1, abolished the hypoxia-induced expression of EPAS1.", "output": {"entities": {"gene": [{"text": "PP1", "start": 45, "end": 48}], "disease": [{"text": "hypoxia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the keratin 13 gene causing oral white sponge nevus.", "output": {"entities": {"gene": [{"text": "keratin 13", "start": 24, "end": 34}], "disease": [{"text": "white sponge nevus", "start": 53, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 13", "start": 24, "end": 34}, "tail": {"text": "white sponge nevus", "start": 53, "end": 71}}]}}, "schema": []}
{"input": "The microarray analysis demonstrated that NMS induces a robust change in the expression of subsets of genes (CCL2, NOS3, THP1, NTRK1, CCR2, BDRKRB1, IL-10, TNFRSF1B, TRPV4, CNR1 and OPRL1) involved in pain transmission and inflammation.", "output": {"entities": {"gene": [{"text": "THP1", "start": 121, "end": 125}], "disease": [{"text": "inflammation", "start": 223, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Liver fibrosis and HCC development are strongly correlated, but there is no effective treatment against fibrosis because the critical mechanism of progression of liver fibrosis is not fully understood.", "output": {"entities": {"gene": [{"text": "HCC", "start": 19, "end": 22}], "disease": [{"text": "fibrosis", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "We also found that rat PC12 pheochromocytoma cells, when induced to differentiate by NGF, displayed an increase of AP-2 protein levels and of Rb2/p130 transcription and protein levels.", "output": {"entities": {"gene": [{"text": "Rb2", "start": 142, "end": 145}], "disease": [{"text": "pheochromocytoma", "start": 28, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization analyses, by the use of probes covering NUP98 and the HOXC gene cluster at 12q13, revealed a fusion signal at the der (11) t (11; 12), indicating a NUP98/HOXC chimera, whereas no fusion was found on the der (12) t (11; 12), suggesting that the translocation was accompanied by a deletion of the reciprocal fusion gene.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 75, "end": 80}], "disease": [{"text": "translocation", "start": 279, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "Continued high-level viremia resulted in the physical loss of the majority of tetramer + CD4 T cells, and the decline of HIV p24-specific CD4 T cells occurred more rapidly and was more substantial than the reduction of total CD4 T cell numbers.", "output": {"entities": {"gene": [{"text": "CD4", "start": 89, "end": 92}], "disease": [{"text": "viremia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Our results revealed 12 potential driver cancer genes including 10 tumor-suppressor candidates (ARID1A, INHBA, KMO, TTLL5, GRM8, IGFBP3, AKTIP, PHKA2, TRPS1, and WNT11) and two oncogene candidates (ERBB3 and RPS6KC1).", "output": {"entities": {"gene": [{"text": "TTLL5", "start": 116, "end": 121}], "disease": [{"text": "tumor", "start": 67, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data suggest the involvement, especially by overexpression, of the BRCA2 gene in sporadic breast tumours, and the existence of another important tumour-suppressor gene in breast cancer, in the 13q12-q13 region.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 89, "end": 99}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In the treated eye with recurrent ROP, VEGF mRNA was not detected in the photocoagulated areas of retina but was increased between laser scars.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 39, "end": 43}], "disease": [{"text": "scars", "start": 137, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "TES, a LIM domain-containing tumour suppressor gene and component of the focal adhesion complex, is involved in adhesion, motility, cell-to-cell interactions and cell signalling.", "output": {"entities": {"gene": [{"text": "TES", "start": 0, "end": 3}], "disease": [{"text": "adhesion", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "To examine associations between rs9883204 in ADCY5 and rs900400 near LEKR1 and CCNL1 with birth weight in a preterm population.", "output": {"entities": {"gene": [{"text": "LEKR1", "start": 69, "end": 74}], "disease": [{"text": "birth weight", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype/phenotype relationships and offer carrier testing where required.", "output": {"entities": {"gene": [{"text": "IDS", "start": 73, "end": 76}], "disease": [{"text": "Hunter syndrome", "start": 112, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDS", "start": 73, "end": 76}, "tail": {"text": "Hunter syndrome", "start": 112, "end": 127}}]}}, "schema": []}
{"input": "These data provide additional support to the hypothesis that exposure to carcinogens (presumably HAAs) through consumption of well-done meat increases the risk of CRC, particularly in individuals who are genetically susceptible (as determined by a rapid phenotype for both NAT2 and CYP1A2) and suggest that smoking, by inducing CYP1A2, facilitates this effect.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 273, "end": 277}], "disease": [{"text": "smoking", "start": 307, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "Similarly, intrathecal IL-1ra administered after the establishment of morphine tolerance reversed hyperalgesia and prevented the additional development of tolerance and allodynia.", "output": {"entities": {"gene": [{"text": "IL-1ra", "start": 23, "end": 29}], "disease": [{"text": "allodynia", "start": 169, "end": 178}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1ra", "start": 23, "end": 29}, "tail": {"text": "allodynia", "start": 169, "end": 178}}]}}, "schema": []}
{"input": "We show here that CCN1 (CYR61) supports the adhesion of prostatic carcinoma cells as an adhesion substrate through integrins and heparan sulfate proteoglycans.", "output": {"entities": {"gene": [{"text": "CYR61", "start": 24, "end": 29}], "disease": [{"text": "adhesion", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "To further characterize the molecular difference between genotypes, the authors evaluated the expression of 37 immunohistochemical markers in a tissue microarray (TMA) containing cores from 20 BRCA1, 14 BRCA2, and 59 sporadic age-matched breast carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 203, "end": 208}], "disease": [{"text": "sporadic", "start": 217, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We suggest that AVP would undergo accelerated proteolytic degradation, and this mechanism would be involved in the pathogenesis of DI in this pedigree.", "output": {"entities": {"gene": [{"text": "AVP", "start": 16, "end": 19}], "disease": [{"text": "DI", "start": 131, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AVP", "start": 16, "end": 19}, "tail": {"text": "DI", "start": 131, "end": 133}}]}}, "schema": []}
{"input": "All patients were characterized by early adult onset, preferential atrophy, and weakness of calf muscles, marked elevation of serum creatine kinase levels, and absence of dysferlin staining.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 171, "end": 180}], "disease": [{"text": "atrophy", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We conducted a population-based study to investigate the relationship between candidate genes for obesity (UCP1, UCP2, ADRA2B, ADRB3, LEPR, VDR and ESR1) and adiposity measures (body mass index, body fat percentage, weight, waist circumference and waist-hip ratio) in terms of individual gene and gene x gene interaction in models unadjusted and adjusted for covariates (age, years since menopause, educational level and total energy intake).", "output": {"entities": {"gene": [{"text": "UCP1", "start": 107, "end": 111}], "disease": [{"text": "body fat percentage", "start": 195, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to investigate whether genetic variants of the uncoupling protein 1 (UCP1) gene are associated with juvenile-onset obesity or alterations in weight gain and insulin sensitivity in young healthy Caucasians.", "output": {"entities": {"gene": [{"text": "UCP1", "start": 87, "end": 91}], "disease": [{"text": "insulin sensitivity", "start": 175, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "We examined maspin expression immunohistochemically in 41 cases with endometrioid adenocarcinoma.", "output": {"entities": {"gene": [{"text": "maspin", "start": 12, "end": 18}], "disease": [{"text": "endometrioid adenocarcinoma", "start": 69, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Eighteen HNPCC-related endometrial cancers, each matched by tumour type, stage and grade with two sporadic endometrial cancers, were examined for proliferation, apoptosis and the expression of oestrogen and progesterone receptors, cyclin B1, D3 and E, p21, p27, bcl-2, bax, p53 and COX-2.", "output": {"entities": {"gene": [{"text": "p53", "start": 274, "end": 277}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "However, smoking intensity increased CRC risk among carriers of both NAT1 and NAT2 fast.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 78, "end": 82}], "disease": [{"text": "smoking", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "A combination of hypoxia and hypertrophy can induce the adverse effect of PLN-Ser16 dephosphorylation.", "output": {"entities": {"gene": [{"text": "PLN", "start": 74, "end": 77}], "disease": [{"text": "hypertrophy", "start": 29, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The current case-control study was conducted in order to elucidate any possible association of the single nucleotide polymorphism (SNP) of codon 72 of the p53 gene (Arg72Pro) and sporadic colorectal adenocarcinoma development in a Caucasian population in Greece.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 155, "end": 163}], "disease": [{"text": "sporadic", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The revised 2008 WHO classification recognizes both molecularly defined (' myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1') and undefined (chronic eosinophilic leukemia, not otherwise specified) eosinophilic myeloid disorders.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 145, "end": 151}], "disease": [{"text": "abnormalities", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to report if APC and WTX may be associated with FAP-associated and sporadic ACT.", "output": {"entities": {"gene": [{"text": "ACT", "start": 102, "end": 105}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "One of the compounds, withaferin A (WA), a major constituent of the dietary compound Withania somnifera, induced Par-4-dependent apoptosis in androgen-refractory prostate cancer cells and regression of PC-3 xenografts in nude mice.", "output": {"entities": {"gene": [{"text": "Par-4", "start": 113, "end": 118}], "disease": [{"text": "regression", "start": 188, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Caprin-1 is a target of the deafness gene Pou4f3 and is recruited to stress granules in cochlear hair cells in response to ototoxic damage.", "output": {"entities": {"gene": [{"text": "Pou4f3", "start": 42, "end": 48}], "disease": [{"text": "deafness", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS.", "output": {"entities": {"gene": [{"text": "RECQL4 gene", "start": 27, "end": 38}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In 86 Spanish NC21OHD children (75 families) an analysis of the 21-hydroxylase (21-OH) gene was performed by CYP21B-specific polymerase chain reaction amplification, allele-specific oligonucleotide hybridization and Southern blotting.", "output": {"entities": {"gene": [{"text": "CYP21B", "start": 109, "end": 115}], "disease": [{"text": "NC21OHD", "start": 14, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21B", "start": 109, "end": 115}, "tail": {"text": "NC21OHD", "start": 14, "end": 21}}]}}, "schema": []}
{"input": "We performed a blind chromosomal analysis on G2-phase lymphocytes from 7 unrelated A-T patients, 13 obligate A-T heterozygotes (parents of the patients), and 14 normal controls following X-irradiation with 1 Gy in order to evaluate this cytogenetic method as a tool for detection of ATM carriers.", "output": {"entities": {"gene": [{"text": "ATM", "start": 283, "end": 286}], "disease": [{"text": "blind", "start": 15, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Multiple linear regression analyses revealed that glycated hemoglobin (P < 0. 0001) and body mass index (P = 0. 048) contributed independently to explain 13. 7% (P < 0. 0001) of the OM p53 variance.", "output": {"entities": {"gene": [{"text": "p53", "start": 185, "end": 188}], "disease": [{"text": "body mass index", "start": 88, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 28, "end": 33}], "disease": [{"text": "X linked hydrocephalus", "start": 56, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 28, "end": 33}, "tail": {"text": "X linked hydrocephalus", "start": 56, "end": 78}}]}}, "schema": []}
{"input": "Toll-like receptor 2 (TLR2)-deficiency is associated with the preservation of vascular function and TLR2-deficient (TLR2 (-/-)) mice exhibit increased neovascularization following induction of hindlimb ischemia.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 22, "end": 26}], "disease": [{"text": "ischemia", "start": 202, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "RANTES promoter polymorphisms were found associated with asthma/atopy in some studies but not others, possibly reflecting the genetic heterogeneity among different ethnicities and different asthma severity.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 0, "end": 6}], "disease": [{"text": "atopy", "start": 64, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency.", "output": {"entities": {"gene": [{"text": "GALK1", "start": 39, "end": 44}], "disease": [{"text": "galactokinase deficiency", "start": 97, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALK1", "start": 39, "end": 44}, "tail": {"text": "galactokinase deficiency", "start": 97, "end": 121}}]}}, "schema": []}
{"input": "Increased activated human T cell lymphotropic virus type I (HTLV-I) Tax11-19-specific memory and effector CD8 + cells in patients with HTLV-I-associated myelopathy/tropical spastic paraparesis: correlation with HTLV-I provirus load.", "output": {"entities": {"gene": [{"text": "CD8", "start": 106, "end": 109}], "disease": [{"text": "tropical spastic paraparesis", "start": 164, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "One hundred and eleven serrated polyps, consisting of 45 HPs (30 microvesicular, 11 goblet cell, 4 mucin depleted) and 56 SSA/Ps (36 with dysplasia, 20 without dysplasia), were retrieved from the pathology files of a large medical center in Korea and 38 SSA/P from American patients were evaluated for BRAF and KRAS mutations, microsatellite instability, and hypermethylation of O6-methylguanine-DNA methyltransferase (MGMT), hMLH1, adenomatous polyposis coli (APC), p16, methylated in tumor-1 (MINT-1), MINT2, and MINT31.", "output": {"entities": {"gene": [{"text": "MINT2", "start": 504, "end": 509}], "disease": [{"text": "polyps", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Blood leukocytes of 16 patients with alcoholic liver cirrhosis and 18 healthy controls were induced for interferon (IFN) production by phytohemagglutinin (PHA) and concanavalin A (ConA) in the presence or absence of isoprinosine and levamisole at concentrations of 10 micrograms/ml and 1 ng/ml.", "output": {"entities": {"gene": [{"text": "IFN", "start": 116, "end": 119}], "disease": [{"text": "alcoholic liver cirrhosis", "start": 37, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The introduction of NPM-MLF1 into early-passage murine embryonic fibroblasts allowed the cells to escape from cellular senescence at a markedly earlier stage and induced neoplastic transformation in collaboration with the oncogenic form of Ras.", "output": {"entities": {"gene": [{"text": "NPM", "start": 20, "end": 23}], "disease": [{"text": "neoplastic transformation", "start": 170, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In contrast, serum SHBG values were negatively associated with body mass index (BMI) and homeostasis model assessment of insulin resistance in the PCOS group (B =-0. 285 and-0. 264, respectively; P < 0. 01).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 19, "end": 23}], "disease": [{"text": "body mass index", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We studied senile plaque (SP), neurofibrillary tangles (NFT) and SP phenotype associations with 6 reported haplotype tagging single nucleotide polymorphisms (SNPs) in the CRP gene.", "output": {"entities": {"gene": [{"text": "CRP gene", "start": 171, "end": 179}], "disease": [{"text": "neurofibrillary tangles", "start": 31, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "FTLD-MND due to TDP-43-proteinopathy should be considered in patients with rapidly progressive parkinsonism and dementia phenotype, especially when aphasia and/or weakness are also present.", "output": {"entities": {"gene": [{"text": "TDP-43", "start": 16, "end": 22}], "disease": [{"text": "aphasia", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In comparison to the TTR stabilizer, tafamidis, RNAi-mediated TTR knockdown led to greater regression of TTR deposits across a broader range of affected tissues.", "output": {"entities": {"gene": [{"text": "TTR", "start": 21, "end": 24}], "disease": [{"text": "regression", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the ADH1C * 2-2 genotype is associated with susceptibility to smoking and drinking-related HNSCC by modifying the biologically effective dose of alcohol.", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 32, "end": 37}], "disease": [{"text": "smoking", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In DNA derived from peripheral blood from a schwannomatosis patient and a sporadic schwannoma sample, we detected rearrangements of the immunoglobulin lambda (IGL) locus, which is unlikely to be due to a B-cell specific somatic recombination of IGL.", "output": {"entities": {"gene": [{"text": "IGL", "start": 159, "end": 162}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "DKK4", "start": 128, "end": 132}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DKK4", "start": 128, "end": 132}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Fat saturation and T1-weighted MRI was performed with images being scored for active bone marrow oedema (BMO) lesions representative of inflammation.", "output": {"entities": {"gene": [{"text": "MRI", "start": 31, "end": 34}], "disease": [{"text": "inflammation", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "CPT was extremely effective in inducing apoptosis of Y79 retinoblastoma cells.", "output": {"entities": {"gene": [{"text": "CPT", "start": 0, "end": 3}], "disease": [{"text": "retinoblastoma", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Amplification of the telomerase RNA component gene in the process of human esophageal carcinogenesis.", "output": {"entities": {"gene": [{"text": "telomerase RNA component gene", "start": 21, "end": 50}], "disease": [{"text": "esophageal", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "HSulf-1 modulates FGF2-and hypoxia-mediated migration and invasion of breast cancer cells.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 18, "end": 22}], "disease": [{"text": "hypoxia", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We found that Wnt16 and many Wnt signaling-related genes were upregulated in the translocation-containing cells.", "output": {"entities": {"gene": [{"text": "Wnt16", "start": 14, "end": 19}], "disease": [{"text": "translocation", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "A search for downstream signals revealed that diabetes mellitus decreased the nuclear localization of Notch1 intracellular domain and reduced the expression of VE-cadherin and N-cadherin in endothelial cells.", "output": {"entities": {"gene": [{"text": "N-cadherin", "start": 176, "end": 186}], "disease": [{"text": "diabetes mellitus", "start": 46, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Multiple mammary tumors of adenocarcinoma type were induced in all females, while 83% of treated males developed adenocarcinomas, sarcomas and transitional carcinosarcomas, as evidenced by casein and vimentin immunoreactivity.", "output": {"entities": {"gene": [{"text": "vimentin", "start": 200, "end": 208}], "disease": [{"text": "carcinosarcomas", "start": 156, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vimentin", "start": 200, "end": 208}, "tail": {"text": "carcinosarcomas", "start": 156, "end": 171}}]}}, "schema": []}
{"input": "Interplay of immunoglobulin G heavy chain markers (Gm) and HLA in predisposing to systemic lupus nephritis.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 30, "end": 41}], "disease": [{"text": "lupus nephritis", "start": 91, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The ubiquitous and prevalent expression of pituitary adenoma PTTG suggests that PTTG plays a role in pituitary tumorigenesis and invasiveness.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 61, "end": 65}], "disease": [{"text": "pituitary adenoma", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Tests of linkage and allelic association between markers in the 1p36 PRKCZ (protein kinase C zeta) gene region and bipolar affective disorder.", "output": {"entities": {"gene": [{"text": "protein kinase C zeta", "start": 76, "end": 97}], "disease": [{"text": "bipolar affective disorder", "start": 115, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein kinase C zeta", "start": 76, "end": 97}, "tail": {"text": "bipolar affective disorder", "start": 115, "end": 141}}]}}, "schema": []}
{"input": "Here we report that GATA-6 is markedly reduced in pulmonary ECs lining both occluded and nonoccluded vessels in patients with idiopathic and systemic sclerosis-associated PAH.", "output": {"entities": {"gene": [{"text": "GATA", "start": 20, "end": 24}], "disease": [{"text": "systemic sclerosis", "start": 141, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "This FA core complex possesses a putative helicase and an E3 ubiquitin ligase subunit, is assembled in both the nucleoplasm and in chromatin, and is required for the mono-ubiquitination of FANCD2, a downstream FA protein, following genotoxic stress.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 58, "end": 77}], "disease": [{"text": "mono", "start": 166, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "miR-137 may be epigenetically silenced during uveal melanoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "miR-137", "start": 0, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Trauma-hemorrhage led to an increase in intestinal MPO activity and lactate, TNF-alpha, IL-6, ICAM-1, CINC-1, and MIP-2 levels.", "output": {"entities": {"gene": [{"text": "MPO", "start": 51, "end": 54}], "disease": [{"text": "hemorrhage", "start": 7, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura.", "output": {"entities": {"gene": [{"text": "CACNA1A gene", "start": 19, "end": 31}], "disease": [{"text": "aura", "start": 88, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Alterations in the expression of depolarized MUC1, MUC5AC, and MUC6 were correlated significantly with p53 gene abnormalities.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 45, "end": 49}], "disease": [{"text": "abnormalities", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "EN is generated by a t (12; 15) translocation, which fuses the N-terminal SAM (sterile α-motif) domain of the ETV6 (or TEL) transcription factor to the C-terminal PTK (protein-tyrosine kinase) domain of the neurotrophin-3 receptor NTRK3.", "output": {"entities": {"gene": [{"text": "TEL", "start": 119, "end": 122}], "disease": [{"text": "sterile", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the erbB-1 (EGFR, epidermal growth factor receptor) and erbB-2 (HER2/neu) proteins contributes to the aggressive behavior of malignant tumors originating from the endometrium.", "output": {"entities": {"gene": [{"text": "HER2/neu", "start": 82, "end": 90}], "disease": [{"text": "aggressive behavior", "start": 120, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Integrin & #945; 3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome).", "output": {"entities": {"gene": [{"text": "ITGA3", "start": 20, "end": 25}], "disease": [{"text": "ILNEB", "start": 135, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGA3", "start": 20, "end": 25}, "tail": {"text": "ILNEB", "start": 135, "end": 140}}]}}, "schema": []}
{"input": "Effects of GH were significant for fat accretion and plasma urea depression.", "output": {"entities": {"gene": [{"text": "GH", "start": 11, "end": 13}], "disease": [{"text": "depression", "start": 65, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GH", "start": 11, "end": 13}, "tail": {"text": "depression", "start": 65, "end": 75}}]}}, "schema": []}
{"input": "Inflammation, insulin resistance, and diabetes--Mendelian randomization using CRP haplotypes points upstream.", "output": {"entities": {"gene": [{"text": "CRP", "start": 78, "end": 81}], "disease": [{"text": "insulin resistance", "start": 14, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In contrast, high doses (500-1500 microg x kg (-1)) of GR127935 suppressed 5-HT-induced pressor responses in the rat and cat and urinary bladder contractions (secondary phase) in the cat as well as the DOI ((+/-)-1-(2, 5-dimethoxy-4-iodophenyl)-2-aminopropane hydrochloride)-induced pressor responses in the rat, which are all mediated by 5-HT2A receptors.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 339, "end": 345}], "disease": [{"text": "secondary", "start": 159, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The TT genotype of the LIPC variant was associated with a reduced risk of AMD, with odds ratios (OR) of 0. 50 (95% confidence interval (CI) 0. 20-0. 90) and p = 0. 014 for the TT genotype versus the CC genotype, controlling for age, gender, smoking, body mass index (BMI), and nutritional factors.", "output": {"entities": {"gene": [{"text": "LIPC", "start": 23, "end": 27}], "disease": [{"text": "smoking", "start": 241, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Thus, TLR4 pathway should seem to have a key role in sporadic TAA.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 6, "end": 10}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.", "output": {"entities": {"gene": [{"text": "epsilon-sarcoglycan", "start": 104, "end": 123}], "disease": [{"text": "Myoclonus dystonia syndrome", "start": 0, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "epsilon-sarcoglycan", "start": 104, "end": 123}, "tail": {"text": "Myoclonus dystonia syndrome", "start": 0, "end": 27}}]}}, "schema": []}
{"input": "We comprehensively screened CTLA4 for novel genetic variations in patients with MS. We studied genetic variations by association methods in a population-based sample of 122 sporadic patients with MS and 244 age-, gender-and ethnicity-matched controls, and by linkage and family-based association methods in 395 individuals from 59 American multiplex pedigrees with 141 affected individuals.", "output": {"entities": {"gene": [{"text": "CTLA4", "start": 28, "end": 33}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "These findings suggested that the expression levels of PLC isozymes are altered by hyperoxia and ACN, but there are apparent differences in these altered levels between the different levels of oxidative stress, and between the organs.", "output": {"entities": {"gene": [{"text": "ACN", "start": 97, "end": 100}], "disease": [{"text": "hyperoxia", "start": 83, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The promyelocytic leukemia cell line HL60 treated with vitamin D showed higher expression of AQP9 and hypersensitivity to Trisenox and Sb (III).", "output": {"entities": {"gene": [{"text": "AQP9", "start": 93, "end": 97}], "disease": [{"text": "hypersensitivity", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "When thrombin is bound to thrombomodulin, it can convert protein C to APC but cannot convert fibrinogen, factor V, or factor VIII.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 118, "end": 129}], "disease": [{"text": "fibrinogen", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "hSRBC transcript was expressed in all normal and benign tumor tissues examined, but undetectable or very low in 73% (11/15) cancer cell lines and 41% (46/111) primary tumors.", "output": {"entities": {"gene": [{"text": "hSRBC", "start": 0, "end": 5}], "disease": [{"text": "benign tumor", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The observed microarray phenotype in the human hippocampus identified RECK and other region-specific genes that may promote long-lasting structural changes with repeated cocaine abuse.", "output": {"entities": {"gene": [{"text": "RECK", "start": 70, "end": 74}], "disease": [{"text": "cocaine abuse", "start": 170, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RECK", "start": 70, "end": 74}, "tail": {"text": "cocaine abuse", "start": 170, "end": 183}}]}}, "schema": []}
{"input": "Recent studies have suggested that allelic variations in the adrenergic receptor beta2 gene, the interleukin (IL)-4 gene and its receptor gene are closely associated with immune diseases.", "output": {"entities": {"gene": [{"text": "beta2", "start": 81, "end": 86}], "disease": [{"text": "immune diseases", "start": 171, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "To determine whether chromosomal aberrations could be detected by fluorescence in situ hybridization (FISH) on fine-needle aspiration biopsies (FNABs), we analyzed and compared specimens from seven patients with SLL and nine patients with a history of SLL that had transformed to large cell lymphoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 102, "end": 106}], "disease": [{"text": "large cell lymphoma", "start": 280, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "GLN increased O-GlcNAc modification of HSF-1 and Sp1 at 1 and 2 hours after sepsis (P <. 001 vs saline).", "output": {"entities": {"gene": [{"text": "Sp1", "start": 49, "end": 52}], "disease": [{"text": "sepsis", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Transient global ischemia is a neuronal insult that induces delayed, selective death of hippocampal CA1 pyramidal neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 100, "end": 103}], "disease": [{"text": "ischemia", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "To date, 15 different P450c17 mutations have been described in 23 patients with 17 alpha-hydroxylase deficiency, indicating that mutations in this gene are due to random events.", "output": {"entities": {"gene": [{"text": "P450c17", "start": 22, "end": 29}], "disease": [{"text": "17 alpha-hydroxylase deficiency", "start": 80, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "P450c17", "start": 22, "end": 29}, "tail": {"text": "17 alpha-hydroxylase deficiency", "start": 80, "end": 111}}]}}, "schema": []}
{"input": "The expression levels of ICAM-1 and NF-kappaB p65 in the small and median pulmonary artery endothelin cells of the 4-week shunt + PPG group were both significantly stronger than those of the 4-week shunt group (P < 0. 05 or P < 0. 01), whereas the expression of IkappaBalpha was weaker than that of the 4-week shunt group (P < 0. 05).", "output": {"entities": {"gene": [{"text": "PPG", "start": 130, "end": 133}], "disease": [{"text": "shunt", "start": 122, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of apoptosis was associated with a decrease in expression of the proapoptotic molecules, BAK and BAX, and activation of the antiapoptotic phosphatidylinositol 3 kinase (PI3K) and AKT pathway, providing potential mechanisms for the effects of RAB25 on tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "BAX", "start": 112, "end": 115}], "disease": [{"text": "aggressiveness", "start": 272, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "[The human alpha (2A)-AR gene and the genotype of site-1296 and the susceptibility to motion sickness].", "output": {"entities": {"gene": [{"text": "AR gene", "start": 22, "end": 29}], "disease": [{"text": "motion sickness", "start": 86, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100].", "output": {"entities": {"gene": [{"text": "MIM", "start": 159, "end": 162}], "disease": [{"text": "symphalangism", "start": 195, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Never-smoking XRCC1-399Gln homozygotes had an average DNA adduct level of 15. 60 +/-5. 42 compared with 6. 16 +/-0. 97 in Gln/Arg heterozygotes and 6. 78 +/-1. 10 in Arg/Arg homozygotes (F = 5. 237, P = 0. 007).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 14, "end": 19}], "disease": [{"text": "smoking", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Although germline brca2 mutations may account for a small proportion of all OM cases, there may be additional loci that contribute to familial aggregation of OM and to the familial association between OM and breast cancer.", "output": {"entities": {"gene": [{"text": "brca2", "start": 18, "end": 23}], "disease": [{"text": "breast cancer", "start": 208, "end": 221}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "brca2", "start": 18, "end": 23}, "tail": {"text": "breast cancer", "start": 208, "end": 221}}]}}, "schema": []}
{"input": "The results are consistent with the previous finding that UMS is caused by haploinsufficiency of TBX3, and imply that mild gonadotropin deficiency may be the primary cause for underdeveloped external genitalia in males with UMS.", "output": {"entities": {"gene": [{"text": "TBX3", "start": 97, "end": 101}], "disease": [{"text": "mild", "start": 118, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 70, "end": 75}], "disease": [{"text": "Rett syndrome", "start": 8, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 70, "end": 75}, "tail": {"text": "Rett syndrome", "start": 8, "end": 21}}]}}, "schema": []}
{"input": "These differences in the DNA-binding properties between HsRad51 (R150Q) and HsRad51 may be important to account for the tumorigenesis in breast cancer patients with the HsRad51 (R150Q) mutation.", "output": {"entities": {"gene": [{"text": "HsRad51", "start": 56, "end": 63}], "disease": [{"text": "tumorigenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "More recently, the additional expression of the costimulatory molecules B7-1 (CD80) and B7-2 (CD86) on antigen presenting cells were found to play an important role in the activation of T-lymphocytes in transplant rejection.", "output": {"entities": {"gene": [{"text": "CD86", "start": 94, "end": 98}], "disease": [{"text": "transplant rejection", "start": 203, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "In unilaterally 6-OHDA-lesioned rats with LID, we show that the time course of viral vector-mediated striatal RGS9-2 overexpression parallels the time course of improvement of L-dopa-induced involuntary movements.", "output": {"entities": {"gene": [{"text": "RGS9", "start": 110, "end": 114}], "disease": [{"text": "involuntary movements", "start": 191, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p. Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome.", "output": {"entities": {"gene": [{"text": "CACNA1C", "start": 119, "end": 126}], "disease": [{"text": "Timothy syndrome", "start": 241, "end": 257}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1C", "start": 119, "end": 126}, "tail": {"text": "Timothy syndrome", "start": 241, "end": 257}}]}}, "schema": []}
{"input": "These results prompted us to investigate the roles of IL-1Ra in APAP-induced ALF mice.", "output": {"entities": {"gene": [{"text": "IL-1Ra", "start": 54, "end": 60}], "disease": [{"text": "ALF", "start": 77, "end": 80}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1Ra", "start": 54, "end": 60}, "tail": {"text": "ALF", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "The voltage-gated potassium channel Kv3. 3 is the causative gene of SCA13 (spinocerebellar ataxia type 13), an autosomal dominant neurological disorder.", "output": {"entities": {"gene": [{"text": "SCA13", "start": 68, "end": 73}], "disease": [{"text": "spinocerebellar ataxia type 13", "start": 75, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCA13", "start": 68, "end": 73}, "tail": {"text": "spinocerebellar ataxia type 13", "start": 75, "end": 105}}]}}, "schema": []}
{"input": "Expression of growth arrest and DNA damage-inducible protein, GADD34 and proliferating cell nuclear antigen (PCNA) have been investigated in the core and peri-infarct zone at 2 and 24 h after middle cerebral artery occlusion (MCAO).", "output": {"entities": {"gene": [{"text": "GADD34", "start": 62, "end": 68}], "disease": [{"text": "middle cerebral artery occlusion", "start": 192, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Specific enfuvirtide resistance mutations (V38A/E) are associated with a sustained CD4 increase, without remarkable effects upon viraemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 83, "end": 86}], "disease": [{"text": "viraemia", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We determined the frequency of PINK1 mutations by direct sequencing in a large series of PD patients with apparently sporadic disease (n = 768).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 31, "end": 36}], "disease": [{"text": "sporadic", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Wilms' tumorigenesis is altered by misexpression of the transcriptional co-activator, CITED1.", "output": {"entities": {"gene": [{"text": "CITED1", "start": 86, "end": 92}], "disease": [{"text": "tumorigenesis", "start": 7, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Impulsivity mediated the effect of GABRA2 on alcohol problems, hyperactive-inattentive symptoms, and conduct problems, whereas sensation seeking mediated the effect of GABRA2 on alcohol problems (AA/AG genotypes conferred risk).", "output": {"entities": {"gene": [{"text": "GABRA2", "start": 35, "end": 41}], "disease": [{"text": "inattentive", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Recently, a transthyretin variant, TTR Met 119, in which methionine substitutes for threonine 119, a component of the protein' s iodothyronine binding site, was identified in individuals with transient euthyroid hyperthyroxinemia.", "output": {"entities": {"gene": [{"text": "TTR", "start": 35, "end": 38}], "disease": [{"text": "euthyroid hyperthyroxinemia", "start": 202, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Two SNPs near the BAT2 and MC4R genes and 3 SNPs within the FTO, SEC16B, and SH2B1 genes were significantly associated with body mass index (weight (kg)/height (m) (2)), body weight, and the prevalence of obesity.", "output": {"entities": {"gene": [{"text": "SEC16B", "start": 65, "end": 71}], "disease": [{"text": "height", "start": 153, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "CVB-4 infection transiently up-regulated expression of the adhesion molecules ICAM-1 and VCAM-1 and increased production of the proinflammatory cytokines IL-1beta and IL-6, and chemokines IL-8 and lymphotactin, as well as IFN-alpha.", "output": {"entities": {"gene": [{"text": "lymphotactin", "start": 197, "end": 209}], "disease": [{"text": "adhesion", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Altogether, these observations suggest a novel role for miR-184 in RPE health and support a model proposing that downregulation of miR-184 expression during aging may result in dysregulation of RPE function, contributing to retinal degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 67, "end": 70}], "disease": [{"text": "retinal degeneration", "start": 224, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "This replication effort identified five new SLE susceptibility loci (P & lt; 5 x 10 (-8)): TNIP1 (odds ratio (OR) = 1. 27), PRDM1 (OR = 1. 20), JAZF1 (OR = 1. 20), UHRF1BP1 (OR = 1. 17) and IL10 (OR = 1. 19).", "output": {"entities": {"gene": [{"text": "TNIP1", "start": 91, "end": 96}], "disease": [{"text": "SLE", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNIP1", "start": 91, "end": 96}, "tail": {"text": "SLE", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "Expression of NG2 has been reported in the majority of paediatric acute leukaemia (AL) cases with MLL rearrangement.", "output": {"entities": {"gene": [{"text": "NG2", "start": 14, "end": 17}], "disease": [{"text": "acute leukaemia", "start": 66, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Moreover, Type A C4. 4A expression was linked to shorter liver metastasis-free survival rate, lung metastasis-free survival rate, or hematogenous metastasis-free survival (P = 0. 0279, P = 0. 0061, and P = 0. 0006, respectively).", "output": {"entities": {"gene": [{"text": "C4. 4A", "start": 17, "end": 23}], "disease": [{"text": "lung metastasis", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome.", "output": {"entities": {"gene": [{"text": "Fibrillin-1", "start": 0, "end": 11}], "disease": [{"text": "Marfan syndrome", "start": 121, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Fibrillin-1", "start": 0, "end": 11}, "tail": {"text": "Marfan syndrome", "start": 121, "end": 136}}]}}, "schema": []}
{"input": "The present study provides the first evidence that PGD (2) participates in the differentiation of adipocytes and in insulin sensitivity in vivo, and the H-PGDS TG mice could constitute a novel model mouse for diabetes studies.", "output": {"entities": {"gene": [{"text": "H-PGDS", "start": 153, "end": 159}], "disease": [{"text": "insulin sensitivity", "start": 116, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Opioid peptides play an essential role in the modulation of micturition reflex and control of inflammatory pain. PPE is one such precursor molecule.", "output": {"entities": {"gene": [{"text": "PPE", "start": 113, "end": 116}], "disease": [{"text": "pain", "start": 107, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPE", "start": 113, "end": 116}, "tail": {"text": "pain", "start": 107, "end": 111}}]}}, "schema": []}
{"input": "We hypothesized that genetically determined ABO histo-blood group antigen (ABH) differences in glycosylation may lead to differences in microbial binding by airway mucus, and thus predispose to early lung infection and more severe lung disease in a subset of patients with CF.", "output": {"entities": {"gene": [{"text": "ABH", "start": 75, "end": 78}], "disease": [{"text": "lung disease", "start": 231, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "The IL6-174 G > C (Minor allele frequency (MAF) = 48%) gene promoter polymorphism was associated with the primary outcome total fat mass (P = 0. 006) and regional fat masses, but not with lean body mass.", "output": {"entities": {"gene": [{"text": "MAF", "start": 43, "end": 46}], "disease": [{"text": "lean body mass", "start": 188, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.", "output": {"entities": {"gene": [{"text": "RASGRP2", "start": 24, "end": 31}], "disease": [{"text": "bleeding", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The most prominent differences between advanced and local adenocarcinoma were upregulation of COL3A1, CFGR, and MET in advanced carcinoma, and downregulation of HGFAC, FZD3, and BFL1 in the same tumors.", "output": {"entities": {"gene": [{"text": "HGFAC", "start": 161, "end": 166}], "disease": [{"text": "advanced carcinoma", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Single-bolus injection of recombinant tissue-type plasminogen activator in acute myocardial infarction.", "output": {"entities": {"gene": [{"text": "tissue-type plasminogen activator", "start": 38, "end": 71}], "disease": [{"text": "myocardial infarction", "start": 81, "end": 102}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "tissue-type plasminogen activator", "start": 38, "end": 71}, "tail": {"text": "myocardial infarction", "start": 81, "end": 102}}]}}, "schema": []}
{"input": "LKB1 gene mutations appear to be frequent in male, smoking patients of Caucasian origin, in contrast to EGFR or HER2 mutations that are frequent in non-smoking, female patients of Asian origin.", "output": {"entities": {"gene": [{"text": "HER2", "start": 112, "end": 116}], "disease": [{"text": "smoking", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Twenty-five control serum specimens, which included sera from syphilitic, relapsing fever, and amyotrophic lateral sclerosis patients as well as from 10 normal individuals, did not react to P39.", "output": {"entities": {"gene": [{"text": "P39", "start": 190, "end": 193}], "disease": [{"text": "amyotrophic lateral sclerosis", "start": 95, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Macrophage migration inhibitory factor (MIF), a cytokine that controls cell-mediated inflammatory responses, is upregulated in atherogenesis; however, its functional contribution to lesion development has not been evaluated.", "output": {"entities": {"gene": [{"text": "MIF", "start": 40, "end": 43}], "disease": [{"text": "atherogenesis", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.", "output": {"entities": {"gene": [{"text": "CENPE", "start": 13, "end": 18}], "disease": [{"text": "microcephalic primordial dwarfism", "start": 72, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CENPE", "start": 13, "end": 18}, "tail": {"text": "microcephalic primordial dwarfism", "start": 72, "end": 105}}]}}, "schema": []}
{"input": "They include uncommon manifestations like autoimmune adrenal insufficiency (AI), hypoparathyroidism, and chronic mucocutaneous candidiasis plus autoantibodies neutralizing IL-17, IL-22, and type I IFNs.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 179, "end": 184}], "disease": [{"text": "adrenal insufficiency", "start": 53, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "By generating stable transfectants, ARHI was reexpressed in pancreatic cancer cells that had lost its expression.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 36, "end": 40}], "disease": [{"text": "pancreatic cancer", "start": 60, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 33, "end": 39}], "disease": [{"text": "cataracts", "start": 107, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COL2A1", "start": 33, "end": 39}, "tail": {"text": "cataracts", "start": 107, "end": 116}}]}}, "schema": []}
{"input": "To assess for the first time the possible contribution of latent transforming growth factor (TGF)-beta binding protein 2 (LTBP2), an extracellular matrix (ECM) protein that associates with fibrillin-1-containing microfibrils, to the etiology of primary open angle glaucoma (POAG) and pseudoexfoliation (PEX) syndrome.", "output": {"entities": {"gene": [{"text": "ECM", "start": 155, "end": 158}], "disease": [{"text": "pseudoexfoliation", "start": 284, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "Comparison of clinical data showed that patients who expressed 5-LO and FLAP had a lower glomerular filtration rate and an increased level of blood urea nitrogen, serum creatinine, and proteinuria.", "output": {"entities": {"gene": [{"text": "5-LO", "start": 63, "end": 67}], "disease": [{"text": "proteinuria", "start": 185, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "On a molecular basis, PS skin fibroblasts had reduced ERAL1 protein levels.", "output": {"entities": {"gene": [{"text": "ERAL1", "start": 54, "end": 59}], "disease": [{"text": "PS", "start": 22, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ERAL1", "start": 54, "end": 59}, "tail": {"text": "PS", "start": 22, "end": 24}}]}}, "schema": []}
{"input": "We identified three gene signatures: Chromogranin A (CgA), MAGE-D2 (adhesion), and MTA1 (metastasis) that define gastrointestinal (GI) carcinoids and hypothesize that their expression can delineate gastric neoplasia.", "output": {"entities": {"gene": [{"text": "Chromogranin A", "start": 37, "end": 51}], "disease": [{"text": "adhesion", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Whether the protease-resistant PrP plays a primary or secondary role in the pathogenesis of this form of PSG remains to be determined.", "output": {"entities": {"gene": [{"text": "PSG", "start": 105, "end": 108}], "disease": [{"text": "secondary", "start": 54, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "TNF2 allele was associated with death as a result of ASP-associated septic shock.", "output": {"entities": {"gene": [{"text": "ASP", "start": 53, "end": 56}], "disease": [{"text": "septic shock", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Recently, somatic mutations of the NF2 gene have been identified in sporadic meningiomas, thus supporting the hypothesis that the NF2 gene is also important in meningioma pathogenesis.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 35, "end": 43}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Cell lines with i (5) (p10) and i (8) (q10) showed gains of the entire chromosome arms of 5p and 8q by CGH.", "output": {"entities": {"gene": [{"text": "p10", "start": 23, "end": 26}], "disease": [{"text": "arms", "start": 82, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression of AM and RAMP2, in the glomeruli of Thy. 1 glomerulonephritis changed similarly over time.", "output": {"entities": {"gene": [{"text": "RAMP2", "start": 30, "end": 35}], "disease": [{"text": "glomerulonephritis", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Gab2 is a member of the Dos/Gab subfamily scaffolding molecules and plays important roles in regulating growth, differentiation, and inflammation.", "output": {"entities": {"gene": [{"text": "Gab2", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 133, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein.", "output": {"entities": {"gene": [{"text": "nibrin", "start": 411, "end": 417}], "disease": [{"text": "chromosomal breakage", "start": 45, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Pleomorphic sarcomas such as osteosarcomas revealed aneuploidy with remarkably higher MDC (1. 70 in osteosarcomas, p < 0. 01) and SPF (6. 5, p < 0. 01), but lower RDR (1. 70, p < 0. 01).", "output": {"entities": {"gene": [{"text": "MDC", "start": 86, "end": 89}], "disease": [{"text": "aneuploidy", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In the chosen system, classical mutations do not show any significant enzymatic activity, whereas mutations associated with a mild course yield significant ASS activity levels.", "output": {"entities": {"gene": [{"text": "ASS", "start": 156, "end": 159}], "disease": [{"text": "mild", "start": 126, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We wondered whether KCa3. 1 inhibition could prevent the acquisition of a pro-tumor phenotype by M/MΦ cells, thus contributing to reduce glioma development.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 20, "end": 27}], "disease": [{"text": "glioma", "start": 137, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Thus, we explored the role of Mir-217 on inflammation and fibrosis in RMCs cultured with high glucose in vitro through Sirt1/HIF-1 & #945; signaling pathway.", "output": {"entities": {"gene": [{"text": "Mir-217", "start": 30, "end": 37}], "disease": [{"text": "fibrosis", "start": 58, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mir-217", "start": 30, "end": 37}, "tail": {"text": "fibrosis", "start": 58, "end": 66}}]}}, "schema": []}
{"input": "Our finding BCR and ABL located within two of the instability-associated regions, and the involvement of these two regions occurring coordinately, suggests a system akin to the BCR-ABL translocation of CML may be involved in genomic instability in about one-third of human colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "BCR", "start": 12, "end": 15}], "disease": [{"text": "genomic instability", "start": 225, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "It has also been suggested that genomic instability is the initiating event in colorectal tumorigenesis and, if this is true, mutations of DNA mismatch repair (MMR) genes (or at similar loci) are the most likely candidates.", "output": {"entities": {"gene": [{"text": "MMR", "start": 160, "end": 163}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 105, "end": 109}], "disease": [{"text": "fish-eye disease", "start": 19, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 105, "end": 109}, "tail": {"text": "fish-eye disease", "start": 19, "end": 35}}]}}, "schema": []}
{"input": "Among the seven Behave-AD subscale scores, aggressiveness was positively correlated with the plasma BDNF level (ρ = 0. 237, P < 0. 005), but did not differ significantly among the three BDNF Val66Met genotypic groups.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 100, "end": 104}], "disease": [{"text": "aggressiveness", "start": 43, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that menadione causes dissociation of GSTA1-JNK complexes, activates JNK, and the consequences of menadione exposure depend on GSTA1 expression.", "output": {"entities": {"gene": [{"text": "GSTA1", "start": 54, "end": 59}], "disease": [{"text": "dissociation", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Among these, 30 out of 272 (11. 0%) azoospermic men and 29 out of 472 (6. 1%) infertile men with OAT showed chromosomal abnormalities.", "output": {"entities": {"gene": [{"text": "OAT", "start": 97, "end": 100}], "disease": [{"text": "infertile", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "RESULTS There was no association between the BDNF Val66Met polymorphism and overall endometriosis (P > 0. 05), whereas higher genotype and allele frequencies of the BDNF (Met) polymorphism were found in the Stage III-IV endometriosis (both P < 0. 01) and endometriosis-related infertile patients (both P < 0. 05).", "output": {"entities": {"gene": [{"text": "BDNF", "start": 45, "end": 49}], "disease": [{"text": "infertile", "start": 277, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "We found that the polymorphisms of P53 (rs1042522) and MDM2 (rs2279744) are associated with gastric cancer risk, whereas no significant association was observed between variant genotype of other two polymorphisms (MDM4 rs1380576 and Hausp rs1529916) and gastric cancer risk.", "output": {"entities": {"gene": [{"text": "Hausp", "start": 233, "end": 238}], "disease": [{"text": "gastric cancer", "start": 92, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "AID and GANP, both appearing in antigen-driven B cells, are involved in affinity maturation of the immunoglobulin V-region with increased somatic mutation.", "output": {"entities": {"gene": [{"text": "AID", "start": 0, "end": 3}], "disease": [{"text": "somatic mutation", "start": 138, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "PRKAR1A is a key component of the cAMP signaling pathway that has been implicated in endocrine tumorigenesis and could, at least partly, function as a tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 0, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 183, "end": 189}], "disease": [{"text": "hypochondrogenesis", "start": 19, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 183, "end": 189}, "tail": {"text": "hypochondrogenesis", "start": 19, "end": 37}}]}}, "schema": []}
{"input": "The cellular rejection response was accompanied by the generation of CD8 + cytotoxic T-cells, CD4 + delayed-type hypersensitivity, and little anti-MUC1 antibody.", "output": {"entities": {"gene": [{"text": "CD4", "start": 94, "end": 97}], "disease": [{"text": "hypersensitivity", "start": 113, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Pachydermoperiostosis or primary hypertrophic osteoarthropathy (HOA) is a rare congenital growth disorder of connective tissue.", "output": {"entities": {"gene": [{"text": "HOA", "start": 64, "end": 67}], "disease": [{"text": "disorder of connective tissue", "start": 97, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In Northern blot analysis, MCP-1 mRNA expression was not observed in unstimulated cultured rat vascular smooth muscle cells (VSMC), but its expression was clearly observed by exposure to tumour necrosis factor-alpha (100 U/ml) for 2-6 h. Mitogen-activated protein kinase activity in VSMC incubated in serum-free culture medium was increased by exposure to 0. 5% fetal bovine serum, while the effect was significantly suppressed in the presence of MCP-1 (100 ng/ml).", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 27, "end": 32}], "disease": [{"text": "necrosis", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Prediction of successful weight reduction under sibutramine therapy through genotyping of the G-protein beta3 subunit gene (GNB3) C825T polymorphism.", "output": {"entities": {"gene": [{"text": "GNB3", "start": 124, "end": 128}], "disease": [{"text": "weight reduction", "start": 25, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "In 15 dogs with OSA, relative RANKL expression did not correlate with either radiographic osteolysis or bone mineral density as assessed by dual energy x-ray absorptiometry.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 30, "end": 35}], "disease": [{"text": "bone mineral density", "start": 104, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "There is significant elevation of insulin resistance and serum levels of fasting glucose, insulin, TNF-alpha, IL-6, CRP, and FFAs in the diabetic group when compared to the normal group, with positive significant correlation between levels of each of TNF-alpha, IL-6, CRP, and FFAs with insulin resistance (HOMA-IR).", "output": {"entities": {"gene": [{"text": "CRP", "start": 116, "end": 119}], "disease": [{"text": "insulin resistance", "start": 34, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria.", "output": {"entities": {"gene": [{"text": "COX", "start": 132, "end": 135}], "disease": [{"text": "recurrent myoglobinuria", "start": 202, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the incidence of KRAS, BRAF and PIK3CA mutations, microsatellite instability (MSI) status and loss of the DNA repair proteins MLH1, MSH2, MSH6 and MGMT in a series of 89 SAC, 81 matched conventional carcinomas (CC) and 13 sporadic colorectal cancer showing histological and molecular features of high-level MSI (sMSI-H).", "output": {"entities": {"gene": [{"text": "SAC", "start": 182, "end": 185}], "disease": [{"text": "sporadic", "start": 234, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "The impaired activity of FALDH leads to the clinical symptom triad of generalized ichthyosis, mental retardation, and spastic diplegia or tetraplegia.", "output": {"entities": {"gene": [{"text": "FALDH", "start": 25, "end": 30}], "disease": [{"text": "generalized ichthyosis", "start": 70, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Decreased expression of renal HSP72 may contribute to activate the TLR4-initiating inflammatory signal pathway, attributing partly to the pathogenesis of hepatorenal syndrome in biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "HSP72", "start": 30, "end": 35}], "disease": [{"text": "biliary cirrhosis", "start": 178, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We speculate the role of increased Palb activity in the recurrence of proteinuria following transplantation in NPHS1.", "output": {"entities": {"gene": [{"text": "Palb", "start": 35, "end": 39}], "disease": [{"text": "proteinuria", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we demonstrate that TOP2B influences the separation between RUNX1 and two translocation partners (RUNX1T1 and EVI) in the nucleus of lymphoid cells.", "output": {"entities": {"gene": [{"text": "TOP2B", "start": 33, "end": 38}], "disease": [{"text": "translocation", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that SON is the first nucleus to respond to the dehydration stimulus.", "output": {"entities": {"gene": [{"text": "SON", "start": 27, "end": 30}], "disease": [{"text": "dehydration", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "IKBKE emerged as a candidate for further studies of genetic factors associated with panic disorder and major depressive disorder.", "output": {"entities": {"gene": [{"text": "IKBKE", "start": 0, "end": 5}], "disease": [{"text": "major depressive disorder", "start": 103, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IKBKE", "start": 0, "end": 5}, "tail": {"text": "major depressive disorder", "start": 103, "end": 128}}]}}, "schema": []}
{"input": "Molecular characterization of factor X deficiency associated with borderline plasma factor X level.", "output": {"entities": {"gene": [{"text": "factor X", "start": 30, "end": 38}], "disease": [{"text": "factor X deficiency", "start": 30, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor X", "start": 30, "end": 38}, "tail": {"text": "factor X deficiency", "start": 30, "end": 49}}]}}, "schema": []}
{"input": "Mutation analysis of DYSF revealed novel compound heterozygous mutations of p. Tyr309X and c. 236 + 1G & gt; T in two related MM patients, known homozygous mutations, p. Arg89X and p. Gln176X, in two MM patients and a heterozygous missense mutation, p. Arg555Trp, in a DMAT patient.", "output": {"entities": {"gene": [{"text": "DYSF", "start": 21, "end": 25}], "disease": [{"text": "DMAT", "start": 269, "end": 273}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DYSF", "start": 21, "end": 25}, "tail": {"text": "DMAT", "start": 269, "end": 273}}]}}, "schema": []}
{"input": "To determine the carrier frequency of GATM deficiency, we performed functional characterization of rare missense variants in GATM reported as heterozygous in the Exome Variant Server database.", "output": {"entities": {"gene": [{"text": "GATM", "start": 38, "end": 42}], "disease": [{"text": "GATM deficiency", "start": 38, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATM", "start": 38, "end": 42}, "tail": {"text": "GATM deficiency", "start": 38, "end": 53}}]}}, "schema": []}
{"input": "Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.", "output": {"entities": {"gene": [{"text": "emerin", "start": 19, "end": 25}], "disease": [{"text": "X-linked Emery-Dreifuss muscular dystrophy", "start": 79, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "emerin", "start": 19, "end": 25}, "tail": {"text": "X-linked Emery-Dreifuss muscular dystrophy", "start": 79, "end": 121}}]}}, "schema": []}
{"input": "Herein, we report our new observation that transplantation of C3aR (-/-) HSPCs into lethally irradiated recipients results in: (1) approximately 5-7 day delay in recovery of platelets and leukocytes; (2) decrease in formation of day 12 colony-forming units-spleen; and (3) decrease in the number of donor-derived CFU-granulocyte-macrophage progenitors detectable in the bone marrow cavities at day 16 after transplantation.", "output": {"entities": {"gene": [{"text": "C3aR", "start": 62, "end": 66}], "disease": [{"text": "cavities", "start": 382, "end": 390}]}, "relations": {}}, "schema": []}
{"input": "The gene for ataxia-telangiectasia, ATM, spans about 150 kb of genomic DNA.", "output": {"entities": {"gene": [{"text": "ATM", "start": 36, "end": 39}], "disease": [{"text": "ataxia-telangiectasia", "start": 13, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 36, "end": 39}, "tail": {"text": "ataxia-telangiectasia", "start": 13, "end": 34}}]}}, "schema": []}
{"input": "To evaluate the potential association between p53 codon 72 polymorphism and sporadic colorectal adenocarcinoma development, and human papillomavirus (HPV) infection.", "output": {"entities": {"gene": [{"text": "p53", "start": 46, "end": 49}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: TP53 mutation-associated genomic instability may promote chromosome 7 accumulation and MDR1 amplification during ovarian cancer chemoresistance and recurrence.", "output": {"entities": {"gene": [{"text": "MDR1", "start": 100, "end": 104}], "disease": [{"text": "genomic instability", "start": 38, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "This study establishes that protease signaling contributes to mammary tumor development and that PAR2, rather than the thrombin receptor PAR1, plays a crucial role in the angiogenic switch.", "output": {"entities": {"gene": [{"text": "PAR1", "start": 137, "end": 141}], "disease": [{"text": "mammary tumor", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our data reveal that PLD1 has a crucial role in intestinal tumorigenesis via its modulation of the E2F1-miR-4496-β-catenin signaling pathway.", "output": {"entities": {"gene": [{"text": "PLD1", "start": 35, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Allelic variants in the GABA (A) alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion.", "output": {"entities": {"gene": [{"text": "GABRA6", "start": 63, "end": 69}], "disease": [{"text": "abdominal obesity", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Control blood samples and exfoliated mouth epithelial cells from healthy individuals showed a low level of DOK1 methylation, suggesting that DOK1 hypermethylation is a tumour specific event.", "output": {"entities": {"gene": [{"text": "DOK1", "start": 107, "end": 111}], "disease": [{"text": "tumour", "start": 168, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Tumor necrosis factor-alpha antagonism protects from myocardial inflammation and fibrosis in experimental diabetic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Tumor necrosis factor-alpha", "start": 0, "end": 27}], "disease": [{"text": "diabetic cardiomyopathy", "start": 106, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Tumor necrosis factor-alpha", "start": 0, "end": 27}, "tail": {"text": "diabetic cardiomyopathy", "start": 106, "end": 129}}]}}, "schema": []}
{"input": "The common allelic variants of SP-A1, SP-A2, SP-B, SP-C, and SP-D genes are associated with respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), or respiratory syncytial virus (RSV) bronchiolitis.", "output": {"entities": {"gene": [{"text": "SP-A2", "start": 38, "end": 43}], "disease": [{"text": "bronchiolitis", "start": 200, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Further analysis by subtype of ischemic CVD showed an association of ACT Isehara-1 with lacunar infarction (P = 0. 0036).", "output": {"entities": {"gene": [{"text": "ACT", "start": 69, "end": 72}], "disease": [{"text": "lacunar infarction", "start": 88, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In carcinomas, variations of DUOX1 and DUOX2 mRNA levels were parallel, indicating that control mechanisms of both gene expressions operate in tumors as well as in normal thyroid tissues; DUOX1 expression was in the normal range in 20, was decreased up to 50-fold in 8, and increased up to 7-fold in 19 samples.", "output": {"entities": {"gene": [{"text": "DUOX1", "start": 29, "end": 34}], "disease": [{"text": "carcinomas", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Mutations of SLC26A4 cause Pendred syndrome, an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA).", "output": {"entities": {"gene": [{"text": "EVA", "start": 144, "end": 147}], "disease": [{"text": "deafness", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The expression of genes encoding for COX-2, MPO, iNOS, and sPLA2-IIA in patients with recurrent depressive disorder.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 59, "end": 64}], "disease": [{"text": "recurrent depressive disorder", "start": 86, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sPLA2", "start": 59, "end": 64}, "tail": {"text": "recurrent depressive disorder", "start": 86, "end": 115}}]}}, "schema": []}
{"input": "Our results based on the largest survey to date raise the possibility that IL-21 signaling in FL cells, rather than being tumor suppressive, supports tumor progression and that therapeutic benefit could be realized by blocking IL-21R instead of stimulating it.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 75, "end": 80}], "disease": [{"text": "tumor progression", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that modulation of brain noradrenergic systems rescues the depression-related phenotype in En2 & #8722;/& #8722; mice and suggest new roles for NE in the pathophysiology of the social and cognitive deficits seen in neuropsychiatric disorders such as autism or schizophrenia.", "output": {"entities": {"gene": [{"text": "En2", "start": 113, "end": 116}], "disease": [{"text": "schizophrenia", "start": 282, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "En2", "start": 113, "end": 116}, "tail": {"text": "schizophrenia", "start": 282, "end": 295}}]}}, "schema": []}
{"input": "In addition, a significant association was observed of rs6007897 and rs4044210 of CELSR1 with large artery atherosclerosis (LAA), a sub-type of IS (p < 0. 01).", "output": {"entities": {"gene": [{"text": "CELSR1", "start": 82, "end": 88}], "disease": [{"text": "atherosclerosis", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We can conclude that the frequency of germline and somatic p53 mutations in sporadic childhood brain tumors is very low, probably less than 1%, and there is no need to screen these patients routinely for their germline p53 status.", "output": {"entities": {"gene": [{"text": "p53", "start": 59, "end": 62}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Expression of the adhesion molecules ICAM-1, VCAM-1, LFA-1 and VLA-4 in the skin is modulated in progressing stages of chronic venous insufficiency.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 53, "end": 58}], "disease": [{"text": "adhesion", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We examined the first 14 exons of the APC gene in 46 polyposis coli patients.", "output": {"entities": {"gene": [{"text": "APC", "start": 38, "end": 41}], "disease": [{"text": "polyposis coli", "start": 53, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APC", "start": 38, "end": 41}, "tail": {"text": "polyposis coli", "start": 53, "end": 67}}]}}, "schema": []}
{"input": "Meta-analyses showed that the overall association for NAT2 was robust (p < 0. 0001), and case-only meta-analyses provided support for an interaction between NAT2 and smoking (p for interaction 0. 009).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 54, "end": 58}], "disease": [{"text": "smoking", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "A case of clonal acute natural killer (NK) cell leukemia with an unusual morphology (agranular) and unique phenotype (CD3-, CD56 +, CD4 +, CD15 +) is presented.", "output": {"entities": {"gene": [{"text": "CD4", "start": 132, "end": 135}], "disease": [{"text": "leukemia", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "A small number of studies have demonstrated association of single nucleotide polymorphisms within LPL and indirect or surrogate measures of insulin resistance, largely based on glucose and insulin values obtained in the fasting state or during an oral glucose tolerance test.", "output": {"entities": {"gene": [{"text": "LPL", "start": 98, "end": 101}], "disease": [{"text": "insulin resistance", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated whether selected infertile patients affected by different testiculopathies caused by DAZ deletions retained CDY1 and if a genotype-phenotype relation could be demonstrated.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 116, "end": 119}], "disease": [{"text": "infertile", "start": 48, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "However, use of the 11-SNP assay resulted in a substantial decrease in sample size needs to detect a previously reported NAT2-smoking interaction for bladder cancer: 1, 121 cases instead of 1, 444 cases, assuming a 1: 1 case-control ratio.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 121, "end": 125}], "disease": [{"text": "smoking", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Of note, ANK3 was previously reported to be overexpressed in fibroblasts from patients with Hutchinson-Gilford progeria syndrome, a form of accelerated aging.", "output": {"entities": {"gene": [{"text": "ANK3", "start": 9, "end": 13}], "disease": [{"text": "Hutchinson-Gilford progeria syndrome", "start": 92, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANK3", "start": 9, "end": 13}, "tail": {"text": "Hutchinson-Gilford progeria syndrome", "start": 92, "end": 128}}]}}, "schema": []}
{"input": "Tat-biliverdin reductase A inhibits inflammatory response by regulation of MAPK and NF-κB pathways in Raw 264. 7 cells and edema mouse model.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 84, "end": 89}], "disease": [{"text": "edema", "start": 123, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that leukemia cell-specific memory CD4 and CD8 T cells are present in vivo of patients with CLL and that several leukemia cell-associated antigens/epitopes are recognized by the patients' immune system, indicating that whole leukemia cells might be of preference for vaccine development.", "output": {"entities": {"gene": [{"text": "CD4", "start": 52, "end": 55}], "disease": [{"text": "leukemia", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Reduced thrombosis in Klkb1-/-mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor.", "output": {"entities": {"gene": [{"text": "tissue factor", "start": 118, "end": 131}], "disease": [{"text": "thrombosis", "start": 8, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tissue factor", "start": 118, "end": 131}, "tail": {"text": "thrombosis", "start": 8, "end": 18}}]}}, "schema": []}
{"input": "Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.", "output": {"entities": {"gene": [{"text": "KRT1", "start": 79, "end": 83}], "disease": [{"text": "EI", "start": 52, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT1", "start": 79, "end": 83}, "tail": {"text": "EI", "start": 52, "end": 54}}]}}, "schema": []}
{"input": "Moreover, we recently reported that FOXF1 expression is preferentially silenced in colorectal cancer cell lines with inactive p53 and knockdown of FOXF1 caused genomic instability in FOXF1-expressing colorectal cancer cells with a defect in the p53-p21 (WAF1) checkpoint, suggesting that FOXF1 plays a key role in colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "WAF1", "start": 254, "end": 258}], "disease": [{"text": "genomic instability", "start": 160, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In hypercholesterolemic apolipoprotein E-deficient mice, expression of FXR, but not Y67F-FXR, ameliorated atherosclerosis, whereas Src down-regulation exacerbated it.", "output": {"entities": {"gene": [{"text": "FXR", "start": 71, "end": 74}], "disease": [{"text": "atherosclerosis", "start": 106, "end": 121}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FXR", "start": 71, "end": 74}, "tail": {"text": "atherosclerosis", "start": 106, "end": 121}}]}}, "schema": []}
{"input": "In NAFLD patients with advanced disease and inflammation, the expression of miRNA 10b is significantly downregulated, while PEPCK mRNA is upregulated; KLF6 mRNA expression also correlates with TRB3 as well as PEPCK gene expression.", "output": {"entities": {"gene": [{"text": "TRB3", "start": 193, "end": 197}], "disease": [{"text": "inflammation", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The IL28B minor allele was associated with lower inflammatory activity and less progressed fibrosis of the liver; however, it constituted a risk factor for younger-age onset of HCC in CHC patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 177, "end": 180}], "disease": [{"text": "fibrosis", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "CD11c expression was positively associated with viral load.", "output": {"entities": {"gene": [{"text": "CD11c", "start": 0, "end": 5}], "disease": [{"text": "viral load", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that BRCA1 and BRCA2 may be sufficient to explain the majority of familial ovarian cancer and that families without mutations can be explained by sensitivity of mutation testing and chance clusters of sporadic cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 35, "end": 40}], "disease": [{"text": "sporadic", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "With this in mind, researchers suggested the involvement of NPY as well as the Y (1) and Y (2) receptors in affective disorders.", "output": {"entities": {"gene": [{"text": "NPY", "start": 60, "end": 63}], "disease": [{"text": "affective disorders", "start": 108, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY", "start": 60, "end": 63}, "tail": {"text": "affective disorders", "start": 108, "end": 127}}]}}, "schema": []}
{"input": "We further found that miR-382 directly regulates the expression of two genes, FGFR1 and SPRY4, which are downregulated in both the cultured olfactory cells and LCM-OE derived from schizophrenia patients.", "output": {"entities": {"gene": [{"text": "miR-382", "start": 22, "end": 29}], "disease": [{"text": "schizophrenia", "start": 180, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-382", "start": 22, "end": 29}, "tail": {"text": "schizophrenia", "start": 180, "end": 193}}]}}, "schema": []}
{"input": "BACKGROUND AND AIM: Ulcerative colitis (UC) and Crohn' s disease (CD) are two major phenotypes of inflammatory bowel disease (IBD) that present with inflammation of the colon or the entire gastrointestinal tract, respectively.", "output": {"entities": {"gene": [{"text": "AIM", "start": 15, "end": 18}], "disease": [{"text": "inflammation", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase (COX)-2, an inducible enzyme that catalyzes the conversion of arachidonic acid to prostaglandins and other eicosanoids, is also induced by hypoxia.", "output": {"entities": {"gene": [{"text": "COX", "start": 16, "end": 19}], "disease": [{"text": "hypoxia", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Thus, cystatin C has a protective role in Alzheimer' s disease pathogenesis, and modulation of cystatin C concentrations may have therapeutic implications for the disease.", "output": {"entities": {"gene": [{"text": "cystatin C", "start": 6, "end": 16}], "disease": [{"text": "Alzheimer' s disease", "start": 42, "end": 62}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "cystatin C", "start": 6, "end": 16}, "tail": {"text": "Alzheimer' s disease", "start": 42, "end": 62}}]}}, "schema": []}
{"input": "Mutations in the PIK3CA gene have recently been reported in different human neoplasms, including breast cancer.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 17, "end": 23}], "disease": [{"text": "breast cancer", "start": 97, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3CA", "start": 17, "end": 23}, "tail": {"text": "breast cancer", "start": 97, "end": 110}}]}}, "schema": []}
{"input": "In addition to the presence of somatic mutations, polymorphic features of the gene may also contribute to alteration of the normal TP53 functioning and variants, mainly in the form of single nucleotide polymorphisms, can be expected to impact susceptibility to sporadic CRC.", "output": {"entities": {"gene": [{"text": "TP53", "start": 131, "end": 135}], "disease": [{"text": "sporadic", "start": 261, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Mechanistic studies in both in vivo and in vitro systems showed that the Nrf2-mediated protection against diabetic nephropathy is, at least, partially through inhibition of transforming growth factor-beta1 (TGF-beta1) and reduction of extracellular matrix production.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 73, "end": 77}], "disease": [{"text": "diabetic nephropathy", "start": 106, "end": 126}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nrf2", "start": 73, "end": 77}, "tail": {"text": "diabetic nephropathy", "start": 106, "end": 126}}]}}, "schema": []}
{"input": "Association of DISC1 and TSNAX genes and affective disorders in the depression case-control (DeCC) and bipolar affective case-control (BACCS) studies.", "output": {"entities": {"gene": [{"text": "TSNAX", "start": 25, "end": 30}], "disease": [{"text": "affective disorders", "start": 41, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TSNAX", "start": 25, "end": 30}, "tail": {"text": "affective disorders", "start": 41, "end": 60}}]}}, "schema": []}
{"input": "To the best of our knowledge, this case represents the first de novo mutation reported for corticosteroid-binding globulin deficiency, implicating a pathogenic role of variants of SERPINA6 in some cases of muscle fatigue.", "output": {"entities": {"gene": [{"text": "SERPINA6", "start": 180, "end": 188}], "disease": [{"text": "corticosteroid-binding globulin deficiency", "start": 91, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SERPINA6", "start": 180, "end": 188}, "tail": {"text": "corticosteroid-binding globulin deficiency", "start": 91, "end": 133}}]}}, "schema": []}
{"input": "There was a clear, positive relationship between the level of iNOS expression and the degree of inflammation in the colonic tissue of IL-2 (-/-) and wild-type mice.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 134, "end": 138}], "disease": [{"text": "inflammation", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "After the integration of murine and human microarray data to inform candidate-gene selection, we observed significant family-based association and independent replication of association in a case-control study, suggesting that SERPINE2 is a COPD-susceptibility gene and is likely influenced by gene-by-smoking interaction.", "output": {"entities": {"gene": [{"text": "SERPINE2", "start": 227, "end": 235}], "disease": [{"text": "smoking", "start": 302, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "Migration inhibitory factor enhances inflammation via CD74 in cartilage end plates with Modic type 1 changes on MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 112, "end": 115}], "disease": [{"text": "inflammation", "start": 37, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Our previous studies demonstrated that INPP4B, a member of the PI3K/Akt signaling pathway, is overexpressed in a subset of AML patients and is associated with lower response to chemotherapy and shorter survival.", "output": {"entities": {"gene": [{"text": "INPP4B", "start": 39, "end": 45}], "disease": [{"text": "AML", "start": 123, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "INPP4B", "start": 39, "end": 45}, "tail": {"text": "AML", "start": 123, "end": 126}}]}}, "schema": []}
{"input": "Multivariate analysis showed that MIF-173 C and-794 non-CATT (5) alleles synergized with H. pylori for the risk of gastric cancer (OR = 14. 64).", "output": {"entities": {"gene": [{"text": "MIF", "start": 34, "end": 37}], "disease": [{"text": "gastric cancer", "start": 115, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The cell cycle pathway was found as the most important pathway (P = 0. 044) with four genes significantly associated with lung cancer (PLA2G6 minP = 0. 001, CCNA2 minP = 0. 006, GSK3 beta minP = 0. 007 and EGF minP = 0. 013), after adjusting for multiple comparisons.", "output": {"entities": {"gene": [{"text": "CCNA2", "start": 157, "end": 162}], "disease": [{"text": "lung cancer", "start": 122, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "By combining the PAX3/FKHR RT-PCR assay with primers for detection of the Ewing' s sarcoma t (11; 22) encoded EWS/FLI-1 chimeric transcript, we have developed a multiplex RT-PCR reaction that allows the rapid and accurate identification of either translocation in a biopsy sample.", "output": {"entities": {"gene": [{"text": "EWS", "start": 110, "end": 113}], "disease": [{"text": "translocation", "start": 247, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "In addition, hypermethylation of Chfr and hMLH1 occurred concurrently (P < 0. 01); methylation was more frequent in patients over 70 years of age (P < 0. 01), and it was also present in some samples of non-neoplastic gastric epithelia from elderly patients.", "output": {"entities": {"gene": [{"text": "Chfr", "start": 33, "end": 37}], "disease": [{"text": "non-neoplastic", "start": 202, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Some patients with GDH activating mutations appear to be at unusual risk of developmental delay and generalized epilepsy, perhaps reflecting consequences of increased GDH activity in the brain.", "output": {"entities": {"gene": [{"text": "GDH", "start": 19, "end": 22}], "disease": [{"text": "generalized epilepsy", "start": 100, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: In large-scale screening of 16 SEREX-antigens by sera of breast cancer patients and healthy donors, a combination of six antigens (RAD50, PARD3, SPP1, SAP30BP, NY-BR-62 and NY-CO-58) was identified, which can differentiate breast cancer patients and healthy donors with 70% sensitivity and 91% specificity.", "output": {"entities": {"gene": [{"text": "SAP30BP", "start": 160, "end": 167}], "disease": [{"text": "breast cancer", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "This study was the first to suggest a possible role of gene expression analysis of ANK3, RASGRP1 and POLG1 in the LCLs as potential biomarkers of BD.", "output": {"entities": {"gene": [{"text": "RASGRP1", "start": 89, "end": 96}], "disease": [{"text": "BD", "start": 146, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RASGRP1", "start": 89, "end": 96}, "tail": {"text": "BD", "start": 146, "end": 148}}]}}, "schema": []}
{"input": "Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.", "output": {"entities": {"gene": [{"text": "LACC1", "start": 29, "end": 34}], "disease": [{"text": "systemic juvenile idiopathic arthritis", "start": 60, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LACC1", "start": 29, "end": 34}, "tail": {"text": "systemic juvenile idiopathic arthritis", "start": 60, "end": 98}}]}}, "schema": []}
{"input": "Co-deletion of chromosome arms 1p and 19q, characteristic of oligodendroglial tumors, was recently found to be mediated by t (1; 19) (q10; p10).", "output": {"entities": {"gene": [{"text": "p10", "start": 139, "end": 142}], "disease": [{"text": "arms", "start": 26, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Serum ALR level is helpful in estimating the survival time of patients with HF, and ALR may play an important role in hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "ALR", "start": 6, "end": 9}], "disease": [{"text": "hepatocarcinogenesis", "start": 118, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The plasma viral load was higher in B57/58 (+) and B27 (+) subjects lacking the conserved B57/58-and B27-restricted responses.", "output": {"entities": {"gene": [{"text": "B27", "start": 51, "end": 54}], "disease": [{"text": "viral load", "start": 11, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, we found that SOD3 (R213G) transgenic mice exhibited premature aging, including hair graying, abnormal gait, and a shortened life span.", "output": {"entities": {"gene": [{"text": "SOD3", "start": 28, "end": 32}], "disease": [{"text": "abnormal gait", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that biotinidase deficiency not only reduces net carboxylase biotinylation, but it also impairs the expression of carboxylases and HCS by interfering with the B-AMP-dependent mechanism of transcription control.", "output": {"entities": {"gene": [{"text": "HCS", "start": 154, "end": 157}], "disease": [{"text": "biotinidase deficiency", "start": 28, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia.", "output": {"entities": {"gene": [{"text": "dopa-responsive dystonia", "start": 102, "end": 126}], "disease": [{"text": "hereditary progressive dystonia with marked diurnal fluctuation", "start": 38, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dopa-responsive dystonia", "start": 102, "end": 126}, "tail": {"text": "hereditary progressive dystonia with marked diurnal fluctuation", "start": 38, "end": 101}}]}}, "schema": []}
{"input": "In rare cases, FUS can substitute for EWS, with translocation t (16; 21) (p11; q24) producing a FUS-ERG fusion with no EWS rearrangement.", "output": {"entities": {"gene": [{"text": "EWS", "start": 38, "end": 41}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We also found a negative correlation between age and VGLUT1 mRNA expression in BD in the ERC and ITG.", "output": {"entities": {"gene": [{"text": "VGLUT1", "start": 53, "end": 59}], "disease": [{"text": "BD", "start": 79, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGLUT1", "start": 53, "end": 59}, "tail": {"text": "BD", "start": 79, "end": 81}}]}}, "schema": []}
{"input": "Reduced PAI-1 expression was also detected in vivo in adult rat heart by direct intramyocardial adenovirus-mediated ATF3 gene delivery.", "output": {"entities": {"gene": [{"text": "ATF3 gene", "start": 116, "end": 125}], "disease": [{"text": "adenovirus", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In this study, microarray analysis, in situ hybridization, quantitative real-time PCR and immunohistochemistry revealed decreased expression of the vasopressin gene (Avp) in the hypothalamic paraventricular (PVN) and supraoptic (SON) nuclei of adult LAB mice compared to HAB, NAB (normal anxiety-related behavior) and HABxLAB F1 intercross controls, without detecting differences in receptor expression or density.", "output": {"entities": {"gene": [{"text": "SON", "start": 229, "end": 232}], "disease": [{"text": "anxiety", "start": 288, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrated that Bax translocation is absolutely required for DR6-induced apoptosis.", "output": {"entities": {"gene": [{"text": "DR6", "start": 72, "end": 75}], "disease": [{"text": "translocation", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "PTH mRNA correlated with plasma PTH (r = 0. 864; P < 0. 001), but not with adenoma weight, while CD1 mRNA correlated with adenoma weight (r = 0. 715; P < 0. 001).", "output": {"entities": {"gene": [{"text": "PTH", "start": 0, "end": 3}], "disease": [{"text": "weight", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, our results demonstrated that the levels of hypoxia-inducible factor-1α (HIF-1α) were significantly higher in the cerebral cortex, hippocampus and striatum on the ischemic side; therefore, the HIF-1α-mediated TfR1 expression may be another contributor to the iron overload in the ischemia-reperfusion brain.", "output": {"entities": {"gene": [{"text": "TfR1", "start": 222, "end": 226}], "disease": [{"text": "ischemia", "start": 293, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "Affected individuals showed homozygosity to the microsatellite markers tightly linked to LIPH gene at LAH2 locus on chromosome 3q26. 33.", "output": {"entities": {"gene": [{"text": "LIPH", "start": 89, "end": 93}], "disease": [{"text": "LAH2", "start": 102, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LIPH", "start": 89, "end": 93}, "tail": {"text": "LAH2", "start": 102, "end": 106}}]}}, "schema": []}
{"input": "Immunohistochemical analysis employing a monoclonal antibody nm23-H1 (the antibody against nm-23 protein) was performed on archival material, consisting of 12 cases of follicular thyroid carcinoma (FTC), 57 cases of follicular thyroid adenoma (FTA) and 17 cases of nodular goiter (NG).", "output": {"entities": {"gene": [{"text": "nm23-H1", "start": 61, "end": 68}], "disease": [{"text": "nodular goiter", "start": 265, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "Loss of epithelial MyD88 signaling resulted in increased numbers of mucus-associated bacteria; translocation of bacteria, including the opportunistic pathogen Klebsiella pneumoniae, to mesenteric lymph nodes; reduced transmucosal electrical resistance; impaired mucus-associated antimicrobial activity; and downregulated expression of polymeric immunoglobulin receptor (the epithelial IgA transporter), mucin-2 (the major protein of intestinal mucus), and the antimicrobial peptides RegIIIγ and Defa-rs1.", "output": {"entities": {"gene": [{"text": "polymeric immunoglobulin receptor", "start": 335, "end": 368}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients.", "output": {"entities": {"gene": [{"text": "RUNX2", "start": 48, "end": 53}], "disease": [{"text": "CCD", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RUNX2", "start": 48, "end": 53}, "tail": {"text": "CCD", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 63, "end": 67}], "disease": [{"text": "MFS", "start": 114, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 63, "end": 67}, "tail": {"text": "MFS", "start": 114, "end": 117}}]}}, "schema": []}
{"input": "Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.", "output": {"entities": {"gene": [{"text": "MYH7", "start": 28, "end": 32}], "disease": [{"text": "myosin storage myopathy", "start": 59, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH7", "start": 28, "end": 32}, "tail": {"text": "myosin storage myopathy", "start": 59, "end": 82}}]}}, "schema": []}
{"input": "Promoter methylation of P16, RARbeta, E-cadherin, cyclin A1 and cytoglobin in oral cancer: quantitative evaluation using pyrosequencing.", "output": {"entities": {"gene": [{"text": "cyclin A1", "start": 50, "end": 59}], "disease": [{"text": "oral cancer", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The gene encoding for LCAT has been mapped to chromosome 16q22. 1, and several mutations of this gene cause LCAT deficiency which is inherited as an autosomal recessive trait and which is characterized by corneal opacities, normochromic normocytic anemia, and renal dysfunction.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 22, "end": 26}], "disease": [{"text": "LCAT deficiency", "start": 108, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 22, "end": 26}, "tail": {"text": "LCAT deficiency", "start": 108, "end": 123}}]}}, "schema": []}
{"input": "Augmenter of liver regeneration protects kidneys from ischaemia/reperfusion injury in rats.", "output": {"entities": {"gene": [{"text": "Augmenter of liver regeneration", "start": 0, "end": 31}], "disease": [{"text": "ischaemia", "start": 54, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In this study, messenger RNA (mRNA) expression for novel T lymphocyte chemoattractants, leukotactin-1, macrophage inflammatory protein (MIP)-3 alpha and MIP-3 beta was investigated in bronchoalveolar lavage fluid (BALF) cells from patients with sarcoidosis, a T cell-mediated disease with typical CD4 + lymphocyte alveolitis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 297, "end": 300}], "disease": [{"text": "sarcoidosis", "start": 245, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "To describe seizure phenotypes associated with the hyperinsulinism/hyperammonemia syndrome (HI/HA), which is caused by gain of function mutations in the enzyme glutamate dehydrogenase (GDH).", "output": {"entities": {"gene": [{"text": "GDH", "start": 185, "end": 188}], "disease": [{"text": "seizure", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The GRS was significantly associated with a higher odds of asthma (OR = 1. 61, 95% Confidence Interval = 1. 21, 2. 13; p = 0. 001).", "output": {"entities": {"gene": [{"text": "GRS", "start": 4, "end": 7}], "disease": [{"text": "asthma", "start": 59, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In order to address clinical important issues, PRND mRNA expression was investigated in a panel of 111 astrocytoma tissue samples, histologically classified according to the World Health Organization (WHO) criteria (6 grade I pilocytic astrocytomas, 15 grade II low-grade astrocytomas, 26 grade III anaplastic astrocytomas and 64 grade IV glioblastoma multiforme).", "output": {"entities": {"gene": [{"text": "PRND", "start": 47, "end": 51}], "disease": [{"text": "glioblastoma multiforme", "start": 339, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results indicate that the PGE (2) and EP1 interaction enhanced migration of oral cancer cells through an increase in ICAM-1 production.", "output": {"entities": {"gene": [{"text": "EP1", "start": 60, "end": 63}], "disease": [{"text": "oral cancer", "start": 98, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver.", "output": {"entities": {"gene": [{"text": "CN-I", "start": 32, "end": 36}], "disease": [{"text": "unconjugated hyperbilirubinemia", "start": 98, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The infrequent loss of the APC and DCC regions and the absence of TGFbeta RII gene mutation in RER-positive neoplasms contrast with colorectal carcinogenesis.", "output": {"entities": {"gene": [{"text": "RER", "start": 95, "end": 98}], "disease": [{"text": "carcinogenesis", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In this regard, the potential role of HDAC2 in liver fibrosis was further evaluated.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 38, "end": 43}], "disease": [{"text": "liver fibrosis", "start": 47, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 38, "end": 43}, "tail": {"text": "liver fibrosis", "start": 47, "end": 61}}]}}, "schema": []}
{"input": "Detailed clinical information was obtained on 86 patients with and without NSD1 abnormalities, and a clinical checklist was developed to help distinguish between these two groups of patients.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 75, "end": 79}], "disease": [{"text": "abnormalities", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In end-stage failing vs. non-failing human myocardium, increased fibrosis was associated with significantly increased RASAL1 promoter methylation, decreased RASAL1 expression, increased Ras-GTP activity, and increased expression of markers of EndMT.", "output": {"entities": {"gene": [{"text": "RASAL1", "start": 118, "end": 124}], "disease": [{"text": "fibrosis", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia.", "output": {"entities": {"gene": [{"text": "PER2", "start": 22, "end": 26}], "disease": [{"text": "cocaine dependence", "start": 67, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PER2", "start": 22, "end": 26}, "tail": {"text": "cocaine dependence", "start": 67, "end": 85}}]}}, "schema": []}
{"input": "In patients with HCC in NCL and iron overload, C282Y mutations are frequent (36. 8% of cases) and significantly increased (p < 0. 009) compared to HCC in NCL without iron overload; these mutations are mostly heterozygous.", "output": {"entities": {"gene": [{"text": "NCL", "start": 24, "end": 27}], "disease": [{"text": "iron overload", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population.", "output": {"entities": {"gene": [{"text": "TAP", "start": 73, "end": 76}], "disease": [{"text": "atopic", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "However, we have identified a novel missense mutation in a family with a classical multi-symptomatic NF1 phenotype, including a malignant schwannoma, that specifically abolishes the Ras-GTPase-activating function of neurofibromin.", "output": {"entities": {"gene": [{"text": "neurofibromin", "start": 216, "end": 229}], "disease": [{"text": "NF1", "start": 101, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "neurofibromin", "start": 216, "end": 229}, "tail": {"text": "NF1", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "This was confirmed by loss of heterozygosity for p53 in the non-NF1 patient, suggesting that p53 is involved in both hereditary and sporadic Triton tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 49, "end": 52}], "disease": [{"text": "sporadic", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Thus, genetic alteration at the fragile site within the FHIT gene leads to loss of Fhit protein in a significant fraction of sporadic breast cancers and a much larger fraction of familial breast cancers with an inherited BRCA2 mutation, consistent with the idea that loss of BRCA2 function affects stability of the FHIT/FRA3B locus.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 221, "end": 226}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "In this study, the level of PTL-induced generation of reactive oxygen species (ROS) and apoptosis was significantly higher in the MPO-high leukemia cell lines compared with the MPO-low leukemia cell lines.", "output": {"entities": {"gene": [{"text": "PTL", "start": 28, "end": 31}], "disease": [{"text": "leukemia", "start": 139, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "These findings raise the possibility that ketohexokinase-A serves an unknown physiologic function that remains intact in essential fructosuria.", "output": {"entities": {"gene": [{"text": "ketohexokinase", "start": 42, "end": 56}], "disease": [{"text": "fructosuria", "start": 131, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ketohexokinase", "start": 42, "end": 56}, "tail": {"text": "fructosuria", "start": 131, "end": 142}}]}}, "schema": []}
{"input": "In conclusions, lncRNA RP11-445H22. 4 may be a new potential biomarker of breast cancer.", "output": {"entities": {"gene": [{"text": "RP11-445H22. 4", "start": 23, "end": 37}], "disease": [{"text": "breast cancer", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "It can be inferred from these findings that IL-6 gene expression is related to glioma aggressiveness and that IL-6 may play a central role in GBM behavior.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 44, "end": 48}], "disease": [{"text": "aggressiveness", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.", "output": {"entities": {"gene": [{"text": "ATP13A2", "start": 94, "end": 101}], "disease": [{"text": "SPG78", "start": 58, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP13A2", "start": 94, "end": 101}, "tail": {"text": "SPG78", "start": 58, "end": 63}}]}}, "schema": []}
{"input": "Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 42, "end": 67}], "disease": [{"text": "acute intermittent porphyria", "start": 90, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 42, "end": 67}, "tail": {"text": "acute intermittent porphyria", "start": 90, "end": 118}}]}}, "schema": []}
{"input": "Thus, there seems to be a useful distinction between the classical NK/T type of nasal lymphoma (CD56 +/n-cdk6 +/CD44-/TcR-GR-) and PTL (CD56-/n-cdk6-/CD44 +/TcR-GR +) involving the nasal region.", "output": {"entities": {"gene": [{"text": "PTL", "start": 131, "end": 134}], "disease": [{"text": "lymphoma", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "MMR inactivation produces distinct changes in the cellular messenger RNA pool, which is consistent with a unique tumorigenesis pathway.", "output": {"entities": {"gene": [{"text": "MMR", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, Ad-PUMA was found to be more efficient than Ad-p53 in inhibiting cell growth and enhancing the chemosensitivity of esophageal cancer cell lines irrespective of the p53 status.", "output": {"entities": {"gene": [{"text": "PUMA", "start": 18, "end": 22}], "disease": [{"text": "esophageal cancer", "start": 130, "end": 147}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PUMA", "start": 18, "end": 22}, "tail": {"text": "esophageal cancer", "start": 130, "end": 147}}]}}, "schema": []}
{"input": "We studied the impact of MEK1 and MEK2 activation on cellular morphology, cell proliferation, survival, migration, invasiveness, and tumorigenesis in mice.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We report the homozygous deletion of exon 9 of DIS3L2 in a Japanese patient with Perlman syndrome.", "output": {"entities": {"gene": [{"text": "DIS3L2", "start": 47, "end": 53}], "disease": [{"text": "Perlman syndrome", "start": 81, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DIS3L2", "start": 47, "end": 53}, "tail": {"text": "Perlman syndrome", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "The potential interaction of GSTM1 and GSTP1 genotypes in pulmonary carcinogenesis was assessed in 382 male Japanese lung cancer patients (127 squamous cell carcinoma, 78 small cell carcinoma, 177 adenocarcinoma) and 257 controls.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 39, "end": 44}], "disease": [{"text": "small cell carcinoma", "start": 171, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "A representative anti-Nectin-2 mAb in epitope bin VII, Y-443, showed anti-tumor effects against OV-90 cells and MDA-MB-231 breast cancer cells in mouse therapeutic models, and its main mechanism of action appeared to be ADCC.", "output": {"entities": {"gene": [{"text": "Nectin-2", "start": 22, "end": 30}], "disease": [{"text": "breast cancer", "start": 123, "end": 136}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nectin-2", "start": 22, "end": 30}, "tail": {"text": "breast cancer", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "Recently, a gene mapped to Xq13 termed HOPA has been found to be associated with mental retardation, hypothyroidism, and depression and to function as a coactivator for the thyroid receptor.", "output": {"entities": {"gene": [{"text": "HOPA", "start": 39, "end": 43}], "disease": [{"text": "depression", "start": 121, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOPA", "start": 39, "end": 43}, "tail": {"text": "depression", "start": 121, "end": 131}}]}}, "schema": []}
{"input": "We previously investigated a limited number of human sporadic colorectal cancers (CRCs) and observed a statistically different occurrence of KRAS and p53 mutations among predetermined subgroups of tumors with different degrees of DNA aneuploidy.", "output": {"entities": {"gene": [{"text": "p53", "start": 150, "end": 153}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Pulmonary small cell carcinoma metastatic to the ovary: a clinicopathologic study of one case with emphasis on the importance of p53 analysis in diagnosis.", "output": {"entities": {"gene": [{"text": "p53", "start": 129, "end": 132}], "disease": [{"text": "small cell carcinoma metastatic", "start": 10, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 118, "end": 122}], "disease": [{"text": "Familial lecithin-cholesterol acyltransferase deficiency", "start": 0, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 118, "end": 122}, "tail": {"text": "Familial lecithin-cholesterol acyltransferase deficiency", "start": 0, "end": 56}}]}}, "schema": []}
{"input": "Flavocoxid reduced prostate weight and hyperplasia, blunted inducible expression of COX-2 and 5-LOX as well as the increased production of PGE (2) and leukotriene B (4) (LTB (4)), enhanced pro-apoptotic Bax and caspase-9 and decreased the anti-apoptotic Bcl-2 mRNA.", "output": {"entities": {"gene": [{"text": "5-LOX", "start": 94, "end": 99}], "disease": [{"text": "hyperplasia", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Here, we examined the expression of p-STAT3 in the tumor tissues from 90 patients with newly diagnosed supratentorial GBM via immunohistochemical technique and evaluated the influences of its expression on progression-free survival (PFS) and overall survival (OS) using the Kaplan-Meier curve and COX proportional hazards regression model.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 38, "end": 43}], "disease": [{"text": "regression", "start": 322, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "In addition, because mutations in p53 are one of the more common aberrations in cancer in general, identification of these mutations and exploration of this approach is warranted in patients with sporadic cancers.", "output": {"entities": {"gene": [{"text": "p53", "start": 34, "end": 37}], "disease": [{"text": "sporadic", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity (LOH) at the BRCA2 locus has been observed in 30-40% of sporadic breast and ovarian tumours, implying that BRCA2 may act as a tumour suppressor gene in a proportion of sporadic cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 36, "end": 41}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Whereas the N4, L38, and NGFbeta peptide domains present within pro-NGF were previously shown to induce phosphorylation of the high-affinity NGF receptor, tropomyosin receptor kinase (Trk), only the NGFbeta moiety was able to stimulate anchorage-independent growth of prostate tumor cells.", "output": {"entities": {"gene": [{"text": "L38", "start": 16, "end": 19}], "disease": [{"text": "prostate tumor", "start": 268, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Disruption of both Hfe and Tfr2 caused more severe hepatic iron overload with more advanced lipid peroxidation, inflammation, and portal fibrosis than was observed with the disruption of either gene alone.", "output": {"entities": {"gene": [{"text": "Tfr2", "start": 27, "end": 31}], "disease": [{"text": "portal fibrosis", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The Northwick Park Heart Study found that elevation of factor VII in middle-aged subjects was an independent risk factor for subsequent ischemic heart disease.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 55, "end": 65}], "disease": [{"text": "ischemic heart disease", "start": 136, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Using polymerase chain reaction and direct sequencing, we analyzed the EXT1 and EXT2 genes in three familial cases and one sporadic case of HME in Taiwanese patients.", "output": {"entities": {"gene": [{"text": "HME", "start": 140, "end": 143}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "A high LOH frequency was found in BRCA1 tumors (range 19-82%), as compared to BRCA2 and sporadic tumors (ranges 11-44% and 7-43%, respectively).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 78, "end": 83}], "disease": [{"text": "sporadic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Thus, systemic administration of these adenoviral vectors should have clinical potential to treat and detect liver metastasis and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 130, "end": 133}], "disease": [{"text": "liver metastasis", "start": 109, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Maintenance of lower BP after weight loss is more difficult for carriers of the CYP4F2 G1347A polymorphism and may be related to increased arterial stiffness and increased 20-HETE synthesis.", "output": {"entities": {"gene": [{"text": "CYP4F2", "start": 80, "end": 86}], "disease": [{"text": "arterial stiffness", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Lipoteichoic acid (LTA) is a major outer cell wall component of Gram-positive bacteria that has been implicated as an important factor in the inflammatory response following bacterial infection.", "output": {"entities": {"gene": [{"text": "LTA", "start": 19, "end": 22}], "disease": [{"text": "bacterial infection", "start": 174, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs.", "output": {"entities": {"gene": [{"text": "SPG", "start": 36, "end": 39}], "disease": [{"text": "progressive spasticity", "start": 183, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "UVB irradiation induced phosphorylation of TOPK in RPMI7951 human melanoma cells and phosphorylated TOPK co-localized with Prx1 in the nucleus.", "output": {"entities": {"gene": [{"text": "Prx1", "start": 123, "end": 127}], "disease": [{"text": "melanoma", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "This represents a potential mechanism by which IL-4/IL-13 could play a role in the pathogenesis of lung fibrosis.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 52, "end": 57}], "disease": [{"text": "lung fibrosis", "start": 99, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-13", "start": 52, "end": 57}, "tail": {"text": "lung fibrosis", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene.", "output": {"entities": {"gene": [{"text": "NF1", "start": 101, "end": 104}], "disease": [{"text": "NF1", "start": 162, "end": 165}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 101, "end": 104}, "tail": {"text": "NF1", "start": 162, "end": 165}}]}}, "schema": []}
{"input": "Taken together, our findings indicate that miR-362-5p belongs to a new class of oncomiR that regulates HCC cell aggressiveness, thus providing new insight into the molecular mechanisms underlying HCC development.", "output": {"entities": {"gene": [{"text": "HCC", "start": 103, "end": 106}], "disease": [{"text": "aggressiveness", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E.", "output": {"entities": {"gene": [{"text": "FAM22B", "start": 192, "end": 198}], "disease": [{"text": "CCSK", "start": 173, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM22B", "start": 192, "end": 198}, "tail": {"text": "CCSK", "start": 173, "end": 177}}]}}, "schema": []}
{"input": "Centromere spreading (CS), which was originally reported in marrow cells of megaloblastic anemia (B12 and folic acid deficiency), was detected in leukemic cells, disappeared during remission, and reappeared on relapse.", "output": {"entities": {"gene": [{"text": "B12", "start": 98, "end": 101}], "disease": [{"text": "megaloblastic anemia", "start": 76, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "A Zellweger syndrome patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the PEX10 open reading frame.", "output": {"entities": {"gene": [{"text": "PEX10", "start": 144, "end": 149}], "disease": [{"text": "Zellweger syndrome", "start": 2, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PEX10", "start": 144, "end": 149}, "tail": {"text": "Zellweger syndrome", "start": 2, "end": 20}}]}}, "schema": []}
{"input": "We have characterized a substantial number of these CpG island associated genes with potentially important roles in tumorigenesis, such as the cadherin member FAT, or the homeobox genes LMX-1 and DUX-4.", "output": {"entities": {"gene": [{"text": "FAT", "start": 159, "end": 162}], "disease": [{"text": "tumorigenesis", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In contrast, during sepsis, which is common in cirrhosis, vascular hyporeactivity is associated with an induction of inducible NOS2.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 127, "end": 131}], "disease": [{"text": "cirrhosis", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Specific language impairment (SLI) is a developmental language disorder that occurs for no known reason.", "output": {"entities": {"gene": [{"text": "SLI", "start": 30, "end": 33}], "disease": [{"text": "developmental language disorder", "start": 40, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The levels of GIN were analyzed by immunofluorescence studies of 53BP1 in 56 skin tumors that included 20 seborrheic keratosis, eight actinic keratosis, nine Bowen' s disease, nine squamous cell carcinoma, and 10 basal cell carcinoma.", "output": {"entities": {"gene": [{"text": "53BP1", "start": 65, "end": 70}], "disease": [{"text": "basal cell carcinoma", "start": 213, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Conversely, BRCA2 associated breast cancers do not differ significantly from sporadic cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 12, "end": 17}], "disease": [{"text": "sporadic", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we provide evidence that the epigenomic proteins BRD3/4 and WHSC1 are essential regulators of estrogen receptor signaling and are novel therapeutic targets for treatment of Tam-R breast cancer.", "output": {"entities": {"gene": [{"text": "WHSC1", "start": 76, "end": 81}], "disease": [{"text": "breast cancer", "start": 195, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WHSC1", "start": 76, "end": 81}, "tail": {"text": "breast cancer", "start": 195, "end": 208}}]}}, "schema": []}
{"input": "MIF-Jab1 complexes could serve critical regulatory functions in atherosclerotic lesion evolution.", "output": {"entities": {"gene": [{"text": "MIF", "start": 0, "end": 3}], "disease": [{"text": "atherosclerotic lesion", "start": 64, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "They also exhibit immunological and biochemical abnormalities, in that: (a) they react preferentially with monoclonal antibodies (MAb) that recognize ligand-binding domains of TrfR (42/6 and 43/31), as compared to MAbs (B3/25, OKT9) that interact with the nonligand binding domains; (b) they have a reduced molecular weight, as compared to TrfR on normal thymocytes and activated T-lymphocytes: this phenomenon is apparently related to a defective glycosylation.", "output": {"entities": {"gene": [{"text": "TrfR", "start": 176, "end": 180}], "disease": [{"text": "abnormalities", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Thus, 8-nitroguanine is a more suitable and promising biomarker for evaluating the risk of inflammation-mediated cervical carcinogenesis than p16.", "output": {"entities": {"gene": [{"text": "p16", "start": 142, "end": 145}], "disease": [{"text": "inflammation", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The MMTV-CDC25A transgene markedly shortens latency of tumorigenesis in MMTV-ras mice.", "output": {"entities": {"gene": [{"text": "CDC25A", "start": 9, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We therefore examined the allele-specific expression of the H19 and IGF2 genes in testicular tumors.", "output": {"entities": {"gene": [{"text": "H19", "start": 60, "end": 63}], "disease": [{"text": "testicular tumors", "start": 82, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Genetically based impairment in CYP2C8-and CYP2C9-dependent NSAID metabolism as a risk factor for gastrointestinal bleeding: is a combination of pharmacogenomics and metabolomics required to improve personalized medicine?", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 43, "end": 49}], "disease": [{"text": "gastrointestinal bleeding", "start": 98, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The combined results of this study provide evidence that the H3K9-me1/2 demethylase KDM3B might play a role in leukemogenesis via activation of lmo2 through interdependent actions with the histone acetyltransferase (HAT) complex containing CBP.", "output": {"entities": {"gene": [{"text": "HAT", "start": 216, "end": 219}], "disease": [{"text": "leukemogenesis", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Comedo-DCIS is a precursor lesion for basal-like breast carcinoma: identification of a novel p63/Her2/neu expressing subgroup.", "output": {"entities": {"gene": [{"text": "p63", "start": 93, "end": 96}], "disease": [{"text": "basal-like breast carcinoma", "start": 38, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The melanoma tumor antigen, melanotransferrin (p97): a 25-year hallmark--from iron metabolism to tumorigenesis.", "output": {"entities": {"gene": [{"text": "p97", "start": 47, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Recipients with renal diseases with potential to recur (membranous glomerulonephritis (MGN), membrano-proliferative glomerulonephritis (MPGN), focal and segmental glomerulonephritis (FSGN), polyarteritis nodosa (PAN), rapid progressive glomerulonephritis (RPGN), Henoch-Schoenlein purpura (HSP), diabetes mellitus (DM), interstitial nephritis, systemic lupus erythematosus (SLE) and chronic glomerulonephritis (CGN)) faired worse as a group than recipients with hypertensive nephrosclerosis (HTN), autosomal dominant polycystic kidney disease (ADPKD), Alport' s, reflux or congenital dysplasia (68 vs. 96% at 10 yr, p = 0. 0009).", "output": {"entities": {"gene": [{"text": "CGN", "start": 411, "end": 414}], "disease": [{"text": "reflux", "start": 563, "end": 569}]}, "relations": {}}, "schema": []}
{"input": "Induction of a CD1 antisense gene in a human colon cancer cell line resulted in rapid, concomitant changes in CD1 mRNA and protein, cyclin E, cdk2, cdk4, and cdk6, as well as the ratio of ppRb to pRb.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 132, "end": 140}], "disease": [{"text": "colon cancer", "start": 45, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "dermatitis", "start": 223, "end": 233}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "dermatitis", "start": 223, "end": 233}}]}}, "schema": []}
{"input": "MRI revealed marked cerebral atrophy and enlargement of the ventricular system.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "enlargement", "start": 41, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha induced NF-kappaB and RhoA activation and upregulation of adhesion molecules ICAM-1 and VCAM-1, increased expression of monocyte chemoattractant protein, enhanced transendothelial migration of monocytes, and augmented monocyte-endothelial adhesion.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 18, "end": 27}], "disease": [{"text": "adhesion", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "However, a small interfering RNA (siRNA)-mediated RGS2 knockdown reversed the apoptotic cell death associated with ischemia-induced RGS2 upregulation.", "output": {"entities": {"gene": [{"text": "RGS2", "start": 50, "end": 54}], "disease": [{"text": "ischemia", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The WSB1 gene is involved in pancreatic cancer progression.", "output": {"entities": {"gene": [{"text": "WSB1 gene", "start": 4, "end": 13}], "disease": [{"text": "pancreatic cancer", "start": 29, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "OVA challenge induced severe airway resistance, inflammation, higher levels of IL-4, TNFα, IL-17A, TGFβ, GATA-3 and RORγT expression and increased Th2 and Th17 cells and IgE responses, but decreased IFNγ and IL-10 responses, T-bet and Foxp3 expression and Th1 and Tregs.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 79, "end": 83}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, it suggested ITGB3 as the mainly affected gene impaired in the patients with Glanzmann' s thrombasthenia.", "output": {"entities": {"gene": [{"text": "ITGB3", "start": 26, "end": 31}], "disease": [{"text": "Glanzmann' s thrombasthenia", "start": 90, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB3", "start": 26, "end": 31}, "tail": {"text": "Glanzmann' s thrombasthenia", "start": 90, "end": 117}}]}}, "schema": []}
{"input": "Pheochromocytomas with mutations in TMEM127 are transcriptionally related to tumors bearing NF1 mutations and, similarly, show hyperphosphorylation of mammalian target of rapamycin (mTOR) effector proteins.", "output": {"entities": {"gene": [{"text": "TMEM127", "start": 36, "end": 43}], "disease": [{"text": "Pheochromocytomas", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM127", "start": 36, "end": 43}, "tail": {"text": "Pheochromocytomas", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.", "output": {"entities": {"gene": [{"text": "ZNF41", "start": 17, "end": 22}], "disease": [{"text": "cognitive deficits", "start": 48, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF41", "start": 17, "end": 22}, "tail": {"text": "cognitive deficits", "start": 48, "end": 66}}]}}, "schema": []}
{"input": "hypertension, metabolic alkalosis and elevated levels of plasma renin activity (PRA) and aldosterone, is described.", "output": {"entities": {"gene": [{"text": "PRA", "start": 80, "end": 83}], "disease": [{"text": "metabolic alkalosis", "start": 14, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Overall, this study shows that RSPH3 mutations contribute to disease in more than 10% of PCD-affected individuals with CC/RS defects, thereby allowing an accurate diagnosis to be made in such cases.", "output": {"entities": {"gene": [{"text": "RSPH3", "start": 31, "end": 36}], "disease": [{"text": "PCD", "start": 89, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RSPH3", "start": 31, "end": 36}, "tail": {"text": "PCD", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "We aimed to evaluate Ala307Thr and Asn680Ser genotypes of the FSHR gene in infertile women and correlate the findings with the results of ovarian response and assisted reproduction outcomes.", "output": {"entities": {"gene": [{"text": "FSHR gene", "start": 62, "end": 71}], "disease": [{"text": "infertile", "start": 75, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "SALL4 may play role in tumorigenesis and tumor cell invasiveness of ESCC through correlation with BMP signaling genes.", "output": {"entities": {"gene": [{"text": "SALL4", "start": 0, "end": 5}], "disease": [{"text": "ESCC", "start": 68, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SALL4", "start": 0, "end": 5}, "tail": {"text": "ESCC", "start": 68, "end": 72}}]}}, "schema": []}
{"input": "A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 24, "end": 40}], "disease": [{"text": "Donohue syndrome", "start": 71, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 24, "end": 40}, "tail": {"text": "Donohue syndrome", "start": 71, "end": 87}}]}}, "schema": []}
{"input": "In addition to HGF, both patients had short stature, subnormal growth velocity, and delayed bone age but no abnormalities on magnetic resonance imaging of the brain.", "output": {"entities": {"gene": [{"text": "HGF", "start": 15, "end": 18}], "disease": [{"text": "abnormalities", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Angiotensin II (Ang II) plays a critical role in the development of diabetic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 0, "end": 14}], "disease": [{"text": "diabetic cardiomyopathy", "start": 68, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 0, "end": 14}, "tail": {"text": "diabetic cardiomyopathy", "start": 68, "end": 91}}]}}, "schema": []}
{"input": "In the whole cohort, ucOCN/OCN ratio was negatively correlated to body mass index (rho =-0. 233; P < 0. 05).", "output": {"entities": {"gene": [{"text": "OCN", "start": 23, "end": 26}], "disease": [{"text": "body mass index", "start": 66, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the results suggested that frequent inactivation of LRP1B mainly occurs by means of epigenetic mechanisms in OSCC, which might play an important role in oral tumorigenesis.", "output": {"entities": {"gene": [{"text": "LRP1B", "start": 68, "end": 73}], "disease": [{"text": "tumorigenesis", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "], ORC4, ORC6, CDT1, and CDC6), DNA damage response (ATR [ataxia-telangiectasia and Rad3-related]), mRNA splicing (U4atac), and centrosome function (CEP152, PCNT, and CPAP).", "output": {"entities": {"gene": [{"text": "CDT1", "start": 15, "end": 19}], "disease": [{"text": "telangiectasia", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "NSD1 abnormalities were identified in 15 (83%) patients.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 0, "end": 4}], "disease": [{"text": "abnormalities", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The well studied associations between sarcoidosis and HLA-class II molecules indicate specific antigen presentation for T helper cells, which is in agreement with the characteristic finding of lung-accumulated CD4 + T helper cells expressing a limited set of T cell receptors.", "output": {"entities": {"gene": [{"text": "CD4", "start": 210, "end": 213}], "disease": [{"text": "sarcoidosis", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that the presence of human c-Ha-ras genes and intestinal bacteria substantially modify colorectal tumorigenesis induced by DMH.", "output": {"entities": {"gene": [{"text": "DMH", "start": 146, "end": 149}], "disease": [{"text": "tumorigenesis", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "SHCBP1 knockdown also significantly inhibited SS cell growth in nude mice, and lowered the MAPK/ERK and PI3K/AKT/mTOR signaling pathways and cyclin D1 expression.", "output": {"entities": {"gene": [{"text": "SHCBP1", "start": 0, "end": 6}], "disease": [{"text": "SS", "start": 46, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SHCBP1", "start": 0, "end": 6}, "tail": {"text": "SS", "start": 46, "end": 48}}]}}, "schema": []}
{"input": "Here we found that Ezh2 regulated the integrin signaling and adhesion dynamics of neutrophils and dendritic cells (DCs).", "output": {"entities": {"gene": [{"text": "Ezh2", "start": 19, "end": 23}], "disease": [{"text": "adhesion", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Our investigations show both human spasmolytic polypeptide and pS2 messenger RNA within the polyps, whereas only pS2 peptide could be demonstrated immunohistochemically.", "output": {"entities": {"gene": [{"text": "pS2", "start": 63, "end": 66}], "disease": [{"text": "polyps", "start": 92, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Previously, we found a positive correlation between the expression of platelet-type 12-lipoxygenase (12-LOX) and the progression of human prostate adenocarcinoma (PCa; Gao et al., Urology, 46: 227-237, 1995).", "output": {"entities": {"gene": [{"text": "12-lipoxygenase", "start": 84, "end": 99}], "disease": [{"text": "prostate adenocarcinoma", "start": 138, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "While deposition induces organ dysfunction, renal involvement in TTR-related amyloidosis could manifest from proteinuria to end-stage kidney failure.", "output": {"entities": {"gene": [{"text": "TTR", "start": 65, "end": 68}], "disease": [{"text": "proteinuria", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.", "output": {"entities": {"gene": [{"text": "integrin beta-4", "start": 66, "end": 81}], "disease": [{"text": "pyloric atresia", "start": 129, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "integrin beta-4", "start": 66, "end": 81}, "tail": {"text": "pyloric atresia", "start": 129, "end": 144}}]}}, "schema": []}
{"input": "To clarify whether host genetic factors contribute to secondary tumorigenesis, we performed mutational analyses of the TP53, BRCA1, and BRCA2 tumor suppressor genes in a cohort of 44 HD patients developing one or more SMN.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 136, "end": 141}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, histochemistry reveals markedly increased NEDD4-1 immunoreactivity in the degenerating/degenerated motor neurons in the lumbar anterior horn of the spinal cord, suggesting a direct causative role for NEDD4-1 in neurodegeneration.", "output": {"entities": {"gene": [{"text": "NEDD4-1", "start": 55, "end": 62}], "disease": [{"text": "neurodegeneration", "start": 224, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Strikingly, increasing the ceramide/S1P ratio, by using pharmacologic (SphK1 inhibitor or ceramide analogue) or small interfering RNA-based approaches to up-regulate intracellular ceramide levels or reduce SphK1 activity, sensitized pancreatic cancer cells to gemcitabine.", "output": {"entities": {"gene": [{"text": "S1P", "start": 36, "end": 39}], "disease": [{"text": "pancreatic cancer", "start": 233, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "The variations in perilipin gene (PLIN) were previously associated with obesity and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "PLIN", "start": 34, "end": 38}], "disease": [{"text": "insulin sensitivity", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Based on data from the HALT-C trial, the PNPLA3 CG/GG SNP at rs738409 is associated with fibrosis progression but not development of HCC in patients with HCV infection.", "output": {"entities": {"gene": [{"text": "HCC", "start": 133, "end": 136}], "disease": [{"text": "fibrosis", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.", "output": {"entities": {"gene": [{"text": "TCTN3", "start": 160, "end": 165}], "disease": [{"text": "short rib", "start": 81, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In a Cox regression model adjusting for European Blood and Marrow Transplant (EBMT) risk score, T cell depletion, and year of treatment, HSCT with a tumor necrosis factor d (TNFd) 4/d5-positive donor was associated with increased mortality (hazard ratio [HR] = 2. 03; confidence interval [CI] 1. 25-3. 31; P =. 004), whereas the D6S510-184 allele was protective (HR = 0. 44; CI 0. 22-0. 87; P =. 018).", "output": {"entities": {"gene": [{"text": "factor d", "start": 164, "end": 172}], "disease": [{"text": "regression", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of manganese superoxide dismutase mRNA may correlate with aggressiveness in gastric and colorectal adenocarcinomas.", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 18, "end": 48}], "disease": [{"text": "aggressiveness", "start": 73, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "UHRF1 expression at mRNA and protein levels was detected by quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) and immunohistochemistry, respectively, in both tissues of LSCC and corresponding adjacent normal larynx tissues.", "output": {"entities": {"gene": [{"text": "UHRF1", "start": 0, "end": 5}], "disease": [{"text": "larynx", "start": 229, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "HGV RNA was detected in 7. 8% of patients with cryptogenic CLD (chronic hepatitis, 9. 3%; cirrhosis, 5. 0%; HCC, 7. 4%), in 2. 4% of patients with PBC or WD, and in 2. 2% of controls.", "output": {"entities": {"gene": [{"text": "HCC", "start": 108, "end": 111}], "disease": [{"text": "chronic hepatitis", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We performed association tests between single nucleotide polymorphisms (SNPs) in the MYLK gene and asthma susceptibility and total serum IgE concentrations in 2 independent, family-based populations of African descent.", "output": {"entities": {"gene": [{"text": "MYLK gene", "start": 85, "end": 94}], "disease": [{"text": "asthma susceptibility", "start": 99, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.", "output": {"entities": {"gene": [{"text": "COL8A2", "start": 18, "end": 24}], "disease": [{"text": "Fuchs' corneal dystrophy", "start": 44, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL8A2", "start": 18, "end": 24}, "tail": {"text": "Fuchs' corneal dystrophy", "start": 44, "end": 68}}]}}, "schema": []}
{"input": "We investigated the interplay between photoreceptors expressing mutant ELOVL4 (responsible for Stargardt-like disease, STGD3) and RPE in the initial stages of retinal degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 130, "end": 133}], "disease": [{"text": "retinal degeneration", "start": 159, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Subjects enrolled included 185 cases of HCC, 182 cases of chronic hepatitis (CH) and 200 healthy controls.", "output": {"entities": {"gene": [{"text": "HCC", "start": 40, "end": 43}], "disease": [{"text": "chronic hepatitis", "start": 58, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In a cohort of Chinese patients (n = 355) with TGFBI dystrophies from 64 families and 3 sporadic cases, 19 distinct mutations were found in several different CD subtypes.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 47, "end": 52}], "disease": [{"text": "sporadic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Our findings challenge a prevailing view that CDX2 is a tumor suppressor in colorectal cancer and uncover an additional piece in the multistep model of colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 46, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Three of four samples from non-neoplastic reactive lesions showed two bands with equal intensity, representing transcription of the two alleles of the G6PD gene, while the corresponding tumour samples demonstrated a biased intensity in one allele, indicating monoclonality.", "output": {"entities": {"gene": [{"text": "G6PD gene", "start": 151, "end": 160}], "disease": [{"text": "non-neoplastic", "start": 27, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The BRCA2-EMSY connection: implications for breast and ovarian tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 4, "end": 9}], "disease": [{"text": "tumorigenesis", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The occurrence of CHK2 mutations in sporadic cancers emphasizes the importance of the stress pathway which includes TP53.", "output": {"entities": {"gene": [{"text": "TP53", "start": 116, "end": 120}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.", "output": {"entities": {"gene": [{"text": "WASP", "start": 98, "end": 102}], "disease": [{"text": "X-linked thrombocytopenia", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 98, "end": 102}, "tail": {"text": "X-linked thrombocytopenia", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "Chronic hypoxic pulmonary hypertension (PH), associated with increased pulmonary arterial pressure (PPA) and right ventricular hypertrophy (RVH), correlates significantly with calcitonin gene-related peptide (CGRP) and somatostatin (SOM) levels in lung and blood.", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 176, "end": 186}], "disease": [{"text": "pulmonary hypertension", "start": 16, "end": 38}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "calcitonin", "start": 176, "end": 186}, "tail": {"text": "pulmonary hypertension", "start": 16, "end": 38}}]}}, "schema": []}
{"input": "Our study demonstrates that genotypes and haplotypes of SP110 might be associated with susceptibility to tuberculosis in Chinese population.", "output": {"entities": {"gene": [{"text": "SP110", "start": 56, "end": 61}], "disease": [{"text": "susceptibility to tuberculosis", "start": 87, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "COPD group had higher plasma MCP1 levels than healthy participants (257. 0 versus 194. 4 pg/mL) in the univariate analysis (P =. 005); and in stepwise liner regression analysis after adjustment for age, alcohol, body mass index, cancer history, and steroid use (P =. 002; 95% confidence interval [CI]: 30. 72-128. 02).", "output": {"entities": {"gene": [{"text": "MCP1", "start": 29, "end": 33}], "disease": [{"text": "body mass index", "start": 212, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Thus, further investigation is needed to improve our understanding of the Cx32 protein function in the nervous system.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 74, "end": 78}], "disease": [{"text": "nervous system", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Studies in sporadic cancers have shown promoter methylation of the FANCF gene in a significant proportion of various solid tumours.", "output": {"entities": {"gene": [{"text": "FANCF gene", "start": 67, "end": 77}], "disease": [{"text": "sporadic", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The enhanced association between smoking and colorectal cancer risk in subjects with the NAT2 rapid genotype supports a role for NAT2 and tobacco smoke heterocyclic amines in the etiology of colorectal cancer.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 89, "end": 93}], "disease": [{"text": "smoking", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Our goal in the present work was to determine whether male patients with untreated hypogonadism have an increased risk of developing rheumatic/autoimmune disease (RAD), and, if so, whether there is a relation to the type of hypogonadism.", "output": {"entities": {"gene": [{"text": "RAD", "start": 163, "end": 166}], "disease": [{"text": "hypogonadism", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We evaluated AAHs, adjacent normal lung tissue, and synchronous lung adenocarcinomas for promoter hypermethylation of genes implicated in lung tumorigenesis (p16, TIMP3, DAPK, MGMT, RARbeta, RASSF1A, and hTERT).", "output": {"entities": {"gene": [{"text": "DAPK", "start": 170, "end": 174}], "disease": [{"text": "tumorigenesis", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We typed the 306 base pair Alu insertion (AluIns) polymorphism in intron G of PR in 101 individuals, estimated linkage disequilibrium (LD) between five single-nucleotide polymorphisms (SNPs) across the PR locus in 980 Australian triads (endometriosis case and two parents) and used transmission disequilibrium testing (TDT) for association with endometriosis.", "output": {"entities": {"gene": [{"text": "TDT", "start": 319, "end": 322}], "disease": [{"text": "endometriosis", "start": 237, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that CCL7 acts as a driver of TNF-α-dependent Th1/Th17-mediated inflammation in lesional psoriatic skin.", "output": {"entities": {"gene": [{"text": "Th1", "start": 65, "end": 68}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These results suggested that SIP-SII might suppress melanoma metastasis via the inhibition of the tumor adhesion mediated by ICAM-1 and the angiogenesis mediated by bFGF, as well as resulting in depression of the invasion and migration of carcinoma cells.", "output": {"entities": {"gene": [{"text": "SII", "start": 33, "end": 36}], "disease": [{"text": "depression", "start": 195, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Since the changes in K (+) currents in astrocytes and NG2 glia that accompany glial scar formation might influence tissue outcome by altering K (+) ion homeostasis, we aimed to characterize the changes in K (+) currents in hippocampal astrocytes and NG2 glia during an extended time window of reperfusion after ischemic injury.", "output": {"entities": {"gene": [{"text": "NG2", "start": 54, "end": 57}], "disease": [{"text": "scar", "start": 84, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Subjects who are heterozygous for the mutation show mild biochemical abnormalities in the growth hormone-releasing hormone (GHRH)--growth hormone--insulin-like growth factor axis, but have only minimal or no growth retardation.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 124, "end": 128}], "disease": [{"text": "abnormalities", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "GSTP1 protein levels also showed significant decrease in ESCC when adjusted for age, gender, smoking status, and alcohol use.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 0, "end": 5}], "disease": [{"text": "alcohol use", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The extent to which brain structural abnormalities might serve as neurobiological endophenotypes that mediate the link between the variation in the promoter of the serotonin transporter gene (5-HTTLPR) and depression is currently unknown.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 164, "end": 185}], "disease": [{"text": "abnormalities", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.", "output": {"entities": {"gene": [{"text": "CREB1", "start": 299, "end": 304}], "disease": [{"text": "clear cell sarcoma", "start": 251, "end": 269}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CREB1", "start": 299, "end": 304}, "tail": {"text": "clear cell sarcoma", "start": 251, "end": 269}}]}}, "schema": []}
{"input": "Previous studies have reported that polymorphisms in IGF2 are associated with body weight and body mass index (BMI), but the results have been inconsistent.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 53, "end": 57}], "disease": [{"text": "body mass index", "start": 94, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Schizophrenia is associated with dysregulation of a Cdk5 activator that regulates synaptic protein expression and cognition.", "output": {"entities": {"gene": [{"text": "Cdk5", "start": 52, "end": 56}], "disease": [{"text": "Schizophrenia", "start": 0, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cdk5", "start": 52, "end": 56}, "tail": {"text": "Schizophrenia", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "The present study concluded that ovarian tumors with mutations closer to the N-terminal of BRCA1 may have a higher risk of DNA aneuploidy.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 91, "end": 96}], "disease": [{"text": "aneuploidy", "start": 127, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "On the basis of the recent report that granulocyte colony-stimulating factor (G-CSF) administration after rats' partial orthotopic liver transplantation greatly improved survival rate and liver regeneration of partial graft, we here evaluated the effect of intermittent administration of G-CSF on fibrosis formation induced by carbon tetrachloride (CCl (4)).", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 39, "end": 76}], "disease": [{"text": "fibrosis", "start": 297, "end": 305}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 39, "end": 76}, "tail": {"text": "fibrosis", "start": 297, "end": 305}}]}}, "schema": []}
{"input": "EVA morphology was classified into four subgroups by the pattern of enlargement: aperture, aperture and midpoint, midpoint, and borderline enlargement.", "output": {"entities": {"gene": [{"text": "EVA", "start": 0, "end": 3}], "disease": [{"text": "enlargement", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "It is proposed that genetic alterations in the PI3K/Akt pathway promote thyroid cell transformation to FTC and that genetic alterations in the MAPK pathway promote cell transformation to PTC; accumulation of multiple genetic alterations that can activate both pathways promotes thyroid cancer aggressiveness and progression to ATC.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 47, "end": 51}], "disease": [{"text": "aggressiveness", "start": 293, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "Valproate is used in the treatment of bipolar disorder and may alter CRF activity via a GABA (A)-ergic mechanism.", "output": {"entities": {"gene": [{"text": "CRF", "start": 69, "end": 72}], "disease": [{"text": "bipolar disorder", "start": 38, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 69, "end": 72}, "tail": {"text": "bipolar disorder", "start": 38, "end": 54}}]}}, "schema": []}
{"input": "These results suggest that the PPARgamma agonist, troglitazone, inhibits colon cancer cell growth via inactivation of NF-kappaB by suppressing GSK-3beta activity.", "output": {"entities": {"gene": [{"text": "PPARgamma", "start": 31, "end": 40}], "disease": [{"text": "colon cancer", "start": 73, "end": 85}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPARgamma", "start": 31, "end": 40}, "tail": {"text": "colon cancer", "start": 73, "end": 85}}]}}, "schema": []}
{"input": "A key feature of the failing heart is a decreased content and activity of SERCA2, which is the cause of some of the physiological defects observed in the hypertrophic cardiomyocyte performance that are important during transition of compensated hypertrophy to heart failure.", "output": {"entities": {"gene": [{"text": "SERCA2", "start": 74, "end": 80}], "disease": [{"text": "hypertrophy", "start": 245, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these observations suggest that the interplay between nucleolar dysfunction and increased oxidative stress, involving p53 and mTOR signaling, may constitute a destructive axis in experimental and sporadic PD.", "output": {"entities": {"gene": [{"text": "p53", "start": 132, "end": 135}], "disease": [{"text": "sporadic", "start": 210, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "However, the relationship between periostin and the development of airflow limitation, a functional consequence of airway remodeling, remains unknown.", "output": {"entities": {"gene": [{"text": "periostin", "start": 34, "end": 43}], "disease": [{"text": "airway remodeling", "start": 115, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We also found ataxia-telangiectasia mutated (ATM) protein and mRNA to be overexpressed in the resistant MCF-7-EPI (R) cells compared with MCF-7 cells and that epirubicin could activate ATM to promote E2F activity and FOXM1 expression.", "output": {"entities": {"gene": [{"text": "FOXM1", "start": 217, "end": 222}], "disease": [{"text": "telangiectasia", "start": 21, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "IRAK-M, a negative regulator of the Toll-like receptor/IL-1R pathways, is a master regulator of NF-kappa B and inflammation.", "output": {"entities": {"gene": [{"text": "IRAK-M", "start": 0, "end": 6}], "disease": [{"text": "inflammation", "start": 111, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present investigation was to study bioactivity and the glycosylation pattern of serum FSH and the occurrence of mutations in the FSH receptor in infertile patients with SCO compared to normal men.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 144, "end": 156}], "disease": [{"text": "infertile", "start": 160, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Rearrangements of NTRK1 gene in papillary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 18, "end": 23}], "disease": [{"text": "papillary thyroid carcinoma", "start": 32, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTRK1", "start": 18, "end": 23}, "tail": {"text": "papillary thyroid carcinoma", "start": 32, "end": 59}}]}}, "schema": []}
{"input": "We studied 22 patients with LS from Ecuador, Israel (of Moroccan origin), Brazil, Chile, and the United States (of Mexican origin) who were homozygous for the E180splice mutation and compared them to control individuals for markers surrounding the GHR, intragenic polymorphisms, and Y-chromosome STR.", "output": {"entities": {"gene": [{"text": "GHR", "start": 248, "end": 251}], "disease": [{"text": "LS", "start": 28, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GHR", "start": 248, "end": 251}, "tail": {"text": "LS", "start": 28, "end": 30}}]}}, "schema": []}
{"input": "Aberrant expression of miR-125a-3p promotes fibroblast activation via Fyn/STAT3 pathway during silica-induced pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 74, "end": 79}], "disease": [{"text": "pulmonary fibrosis", "start": 110, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT3", "start": 74, "end": 79}, "tail": {"text": "pulmonary fibrosis", "start": 110, "end": 128}}]}}, "schema": []}
{"input": "Thus, heparanase facilitates blood coagulation on the cell surface by two independent mechanisms: dissociation of TFPI from the vascular surface shortly after local elevation of heparanase levels, and subsequent induction of TF expression.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 6, "end": 16}], "disease": [{"text": "dissociation", "start": 98, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.", "output": {"entities": {"gene": [{"text": "GNAQ", "start": 94, "end": 98}], "disease": [{"text": "port-wine stains", "start": 30, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAQ", "start": 94, "end": 98}, "tail": {"text": "port-wine stains", "start": 30, "end": 46}}]}}, "schema": []}
{"input": "Association between rs146052672 variant and MetS occurred independently of T2D, indicating that HMGA1 gene defects play a pathogenetic role in MetS and other insulin-resistance-related conditions.", "output": {"entities": {"gene": [{"text": "HMGA1", "start": 96, "end": 101}], "disease": [{"text": "insulin-resistance", "start": 158, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGA1", "start": 96, "end": 101}, "tail": {"text": "insulin-resistance", "start": 158, "end": 176}}]}}, "schema": []}
{"input": "Overall, these data suggest that Tyro3 contributes significantly to tumor growth, aggressiveness and liver dysfunction.", "output": {"entities": {"gene": [{"text": "Tyro3", "start": 33, "end": 38}], "disease": [{"text": "liver dysfunction", "start": 101, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Indomethacin or dipyrone reduced LPS, IL-1beta, IL-6 or TNF-alpha induced fever and CRH release from rat hypothalamus.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 48, "end": 52}], "disease": [{"text": "fever", "start": 74, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 48, "end": 52}, "tail": {"text": "fever", "start": 74, "end": 79}}]}}, "schema": []}
{"input": "Significant results with p ≤ 0. 05 showed that age ≥ 48 years (OR = 11. 87; 7. 55-18. 65), smoking (OR = 4. 25; 2. 70-6. 69), drinking (OR = 1. 59; 1. 02-2. 46) were possible predictors for the head and neck cancer development and the presence of A313G GSTP1 polymorphism (OR = 0. 62; 0. 42-0. 92) decreased the risk for this disease.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 253, "end": 258}], "disease": [{"text": "drinking", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency.", "output": {"entities": {"gene": [{"text": "COX", "start": 205, "end": 208}], "disease": [{"text": "neurological disorder", "start": 32, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Understanding this unique switch arrangement of overlapping, co-regulated NES/NLS sequences is vital to delineating the critical role of RabV P protein in viral infection.", "output": {"entities": {"gene": [{"text": "NES", "start": 74, "end": 77}], "disease": [{"text": "viral infection", "start": 155, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The results showed that LOX mRNA and protein expression were upregulated under hypoxic conditions in NSCLC cells.", "output": {"entities": {"gene": [{"text": "LOX", "start": 24, "end": 27}], "disease": [{"text": "hypoxic", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The latter underpins a previously unrecognized role for altered HTRA2 expression as a risk factor relevant to parkinsonian neurodegeneration.", "output": {"entities": {"gene": [{"text": "HTRA2", "start": 64, "end": 69}], "disease": [{"text": "neurodegeneration", "start": 123, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "In wild-type mice, activation of PKRs by the PKR agonist Bv8 caused hyperalgesia and sensitized to the actions of capsaicin. pkr1-null mice exhibited impaired responses to Bv8 but showed normal hyperalgesic responses to bradykinin and PGE2 (prostaglandin E2).", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 220, "end": 230}], "disease": [{"text": "hyperalgesia", "start": 68, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 220, "end": 230}, "tail": {"text": "hyperalgesia", "start": 68, "end": 80}}]}}, "schema": []}
{"input": "TRPC1 and TRPC6 channels cooperate with TRPV4 to mediate mechanical hyperalgesia and nociceptor sensitization.", "output": {"entities": {"gene": [{"text": "TRPC1", "start": 0, "end": 5}], "disease": [{"text": "mechanical hyperalgesia", "start": 57, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Among 61 nephritis patients and four normal subjects investigated in the present study, Jak3 was selectively localized to glomerular epithelia of IgA-N patients (14/34 cases) and focal glomerulosclerosis patients (1/5 cases), but not detected in minimal changes (n = 6), membranous glomerulonephropathy (n = 7), crescentic glomerulonephritis (n = 4), lupus nephritis patients (n = 5), and normal subjects (n = 4).", "output": {"entities": {"gene": [{"text": "Jak3", "start": 88, "end": 92}], "disease": [{"text": "nephritis", "start": 9, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that enhanced expression of p46 Shc and p52 Shc, as well as p46 Shc tyrosine phosphorylation, was involved not only in the process from normal liver to chronic hepatitis, but also in the transition from chronic hepatitis into HCC in LEC rats.", "output": {"entities": {"gene": [{"text": "HCC", "start": 248, "end": 251}], "disease": [{"text": "chronic hepatitis", "start": 174, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that GRID1 rs3814614 genotype is related to grey matter variation in prefrontal and anterior thalamic brain areas in healthy subjects, but not in patients indicating a potential role of this schizophrenia candidate gene in thalamo-cortical functioning.", "output": {"entities": {"gene": [{"text": "GRID1", "start": 23, "end": 28}], "disease": [{"text": "schizophrenia", "start": 209, "end": 222}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRID1", "start": 23, "end": 28}, "tail": {"text": "schizophrenia", "start": 209, "end": 222}}]}}, "schema": []}
{"input": "Increased expression of caspase 2 in experimental and human temporal lobe epilepsy.", "output": {"entities": {"gene": [{"text": "caspase 2", "start": 24, "end": 33}], "disease": [{"text": "temporal lobe epilepsy", "start": 60, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the anaphase promoting complex/cyclosome inhibitor Emi1 leads to tetraploidy and genomic instability of p53-deficient cells.", "output": {"entities": {"gene": [{"text": "Emi1", "start": 69, "end": 73}], "disease": [{"text": "genomic instability", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Adjustment for diet, smoking, alcohol intake, physical activity and educational level modestly attenuated the magnitude of these associations, but they remained significant for ALT and borderline significant for AST.", "output": {"entities": {"gene": [{"text": "AST", "start": 212, "end": 215}], "disease": [{"text": "alcohol intake", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Translocation t (8; 16) (p11; p13) in neonatal acute monocytic leukaemia.", "output": {"entities": {"gene": [{"text": "p11", "start": 25, "end": 28}], "disease": [{"text": "acute monocytic leukaemia", "start": 47, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that adenovirus-mediated gene transfer to the eye may provide for adjunctive therapy for lysosomal storage diseases affecting the RPE in conjunction with enzyme replacement and/or gene therapies for correction of systemic disease manifestations.", "output": {"entities": {"gene": [{"text": "RPE", "start": 150, "end": 153}], "disease": [{"text": "lysosomal storage diseases", "start": 109, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Most of the others are associated with the resolution of innate inflammation, alternative pathways of macrophage/microglial activation, and the repair phase after acute injury (TGFβ, IL-1ra, IL-1r2, IL-4, IL-13, IL-4Rα, IL-13Rα1, IL-13Rα2, MRC1, ARG1, CD163, CCL22).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 199, "end": 203}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-22 and interleukin-22-producing NKp44 + natural killer cells in subclinical gut inflammation in ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "NKp44", "start": 44, "end": 49}], "disease": [{"text": "inflammation", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In HCC cell lines, the AKT-mammalian target of rapamycin complex 1-ribosomal protein S6 pathway promoted lipogenesis via transcriptional and post-transcriptional mechanisms that included inhibition of fatty acid synthase ubiquitination by the USP2a de-ubiquitinase and disruption of the SREBP1 and SREBP2 degradation complexes.", "output": {"entities": {"gene": [{"text": "SREBP2", "start": 298, "end": 304}], "disease": [{"text": "HCC", "start": 3, "end": 6}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SREBP2", "start": 298, "end": 304}, "tail": {"text": "HCC", "start": 3, "end": 6}}]}}, "schema": []}
{"input": "RUNX1 siRNA decreased cell spreading on collagen and fibrinogen.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 0, "end": 5}], "disease": [{"text": "fibrinogen", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Human neuroblastoma cell lines and a majority of primary neuroblastoma specimens showed high-level expression of the pathway targets and components, indicating persistent activation of the SHH pathway.", "output": {"entities": {"gene": [{"text": "SHH", "start": 189, "end": 192}], "disease": [{"text": "neuroblastoma", "start": 6, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The present study was carried out to search for an association between variants of the BCHE gene and weight, stature, and BMI on the basis of means and variances compared between nonusual variants and their respective usual controls.", "output": {"entities": {"gene": [{"text": "BCHE gene", "start": 87, "end": 96}], "disease": [{"text": "stature", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We examined the effects of FTS on gene-expression profiles, growth and death of NCIH929 myeloma cells and K562 leukemia cells, which-like LAN-1 cells-exhibit Myc gene amplification and harbor active Ras.", "output": {"entities": {"gene": [{"text": "FTS", "start": 27, "end": 30}], "disease": [{"text": "myeloma", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Insertion (10; 11) (p11; q23q24) in two cases of acute monocytic leukemia.", "output": {"entities": {"gene": [{"text": "p11", "start": 20, "end": 23}], "disease": [{"text": "acute monocytic leukemia", "start": 49, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "With few exceptions, such hybrids also showed increased basal-and MSH-induced pigmentation, at least in part through increased N-glycosylation of melanogenic proteins (Sodi et al., 1998.", "output": {"entities": {"gene": [{"text": "MSH", "start": 66, "end": 69}], "disease": [{"text": "pigmentation", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Use of antisera specifically recognizing the C-terminus of beta-, alpha-, and gamma-endorphin, respectively, revealed that only the beta-endorphin antiserum inhibited the fall in blood pressure in spontaneously hypertensive rats after cumulative administration of clonidine.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 132, "end": 146}], "disease": [{"text": "fall in blood pressure", "start": 171, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-endorphin", "start": 132, "end": 146}, "tail": {"text": "fall in blood pressure", "start": 171, "end": 193}}]}}, "schema": []}
{"input": "We show that the newly evolved protective TATA allele is associated with decreased total LMO1 expression (P & #8201; = & #8201; 0. 028) in neuroblastoma primary tumours, and ablates GATA3 binding (P & #8201; & lt; & #8201; 0. 0001).", "output": {"entities": {"gene": [{"text": "LMO1", "start": 89, "end": 93}], "disease": [{"text": "neuroblastoma", "start": 139, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMO1", "start": 89, "end": 93}, "tail": {"text": "neuroblastoma", "start": 139, "end": 152}}]}}, "schema": []}
{"input": "(18) F-FES and (18) F-FDG PET studies provide a new index of the (18) F-FDG-to-(18) F-FES ratio, which is considered the most informative index reflecting tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "FES", "start": 7, "end": 10}], "disease": [{"text": "aggressiveness", "start": 161, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "To determine the role of systemic inflammatory response syndrome (SIRS) and multiple organ dysfunction syndrome (MODS), and evaluate the progress from SIRS to MODS and the therapeutic strategies for acute necrotizing pancreatitis (ANP).", "output": {"entities": {"gene": [{"text": "ANP", "start": 231, "end": 234}], "disease": [{"text": "systemic inflammatory response syndrome", "start": 25, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The authors have identified six Southeast Asian patients ranging in age from 14 to 21 years with hemoglobin E-beta (0) thalassemia and a coagulopathy involving von Willebrand factor (vWF).", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 160, "end": 181}], "disease": [{"text": "thalassemia", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Disease progression in wild-type and Mincle (-/-) mice undergoing pulmonary infection with K. pneumoniae was compared.", "output": {"entities": {"gene": [{"text": "Mincle", "start": 37, "end": 43}], "disease": [{"text": "pulmonary infection", "start": 66, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that exogenously processed HNE is a source of PR1 peptide as well as other peptide sequences capable of inducing leukemia-specific CD8 + and CD4 + T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 164, "end": 167}], "disease": [{"text": "leukemia", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Since administration of capsaicin and isoflavone increases serum levels of IGF-I by sensory neuron stimulation in subjects with alopecia, it is possible that administration of capsaicin and isoflavone reduces arterial blood pressure in patients with hypertension.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 75, "end": 80}], "disease": [{"text": "hypertension", "start": 250, "end": 262}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-I", "start": 75, "end": 80}, "tail": {"text": "hypertension", "start": 250, "end": 262}}]}}, "schema": []}
{"input": "To clarify the role of ALCAM in endometrial tumorigenesis, we determined the levels of protein and messenger RNA expression of ALCAM in human endometrial tissue (proliferative phase [n = 20], secretory phase [n = 20], simple hyperplasia [n = 15], complex hyperplasia [n = 12], atypical hyperplasia [AH, n = 14], EEC [n = 42]) using immunohistochemistry, Western blot, and semiquantitative reverse transcription-polymerase chain reaction, respectively.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 23, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In this report, CK19 and p63 were immunohistochemically examined in primary tumours for use as molecular markers and were compared with cytokeratin 903 (CK903), cytokeratin 8/18 (CK8/18) and cytokeratin (AE1/AE3), which are used in diagnostic immunohistochemistry for head and neck squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "AE1", "start": 204, "end": 207}], "disease": [{"text": "head and neck squamous cell carcinoma", "start": 268, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, detectable levels of CCL20 protein are seen in the BAL fluid components of patients with active sarcoidosis, and sarcoid AMs release the CCR6 ligand in vitro.", "output": {"entities": {"gene": [{"text": "CCR6", "start": 150, "end": 154}], "disease": [{"text": "sarcoid", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "For oropharyngeal GC (89 infections detected), sensitivities were 41% for culture, 72% for SDA, and 84% for AC2.", "output": {"entities": {"gene": [{"text": "SDA", "start": 91, "end": 94}], "disease": [{"text": "infections", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "The genomic expression of 20 stroma-derived factors, including the androgen receptor (AR), growth factors (FGF2, FGF7, FGF10, HGF, TGFβ, PDGFB), protein implicated in invasion (MMP-2, MMP-9 and MMP-11), inflammation (IL-6, IL-17, STAT-3 and NFκB), stroma/epithelium interaction (CDH11, FAP, CXCL12 and CXCL14) and chaperones (HPA1A and HSF1), was evaluated in cultured fibroblasts both from BHP and prostate carcinomas (PCa).", "output": {"entities": {"gene": [{"text": "FGF2", "start": 107, "end": 111}], "disease": [{"text": "inflammation", "start": 203, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "We utilized shRNA of Rap1 isoforms in cultured human retinal pigment epithelial cells, along with knockout mouse models to test the role of Rap1 on promoting RPE barrier properties, with emphasis on the dynamic junctional regulation that is triggered when the adhesion between cells is challenged.", "output": {"entities": {"gene": [{"text": "RPE", "start": 158, "end": 161}], "disease": [{"text": "adhesion", "start": 260, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Formyl peptide-receptor like-1 requires lipid raft and extracellular signal-regulated protein kinase to activate inhibitor-kappa B kinase in human U87 astrocytoma cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 147, "end": 150}], "disease": [{"text": "astrocytoma", "start": 151, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "There were gene-environment interactions between ADH1B + 3170A > G and ADH1C + 13044A > G and alcohol consumption and smoking.", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 71, "end": 76}], "disease": [{"text": "smoking", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "NOS inhibition by L-NAME increased basal frequency and attenuated the positive chronotropic effect of beta-adrenergic stimulation in the HF group (P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "NOS", "start": 0, "end": 3}], "disease": [{"text": "HF", "start": 137, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 0, "end": 3}, "tail": {"text": "HF", "start": 137, "end": 139}}]}}, "schema": []}
{"input": "Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16. 1 suggest that this region harbors a gene (s) important to the development of autism.", "output": {"entities": {"gene": [{"text": "p16", "start": 157, "end": 160}], "disease": [{"text": "autism spectrum disorder", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of CFTR in prostate cancer cell lines suppresses tumor progression (cell growth, adhesion and migration), whereas knockdown of CFTR leads to enhanced malignancies both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 18, "end": 22}], "disease": [{"text": "tumor progression", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "AQP5", "start": 13, "end": 17}], "disease": [{"text": "nonepidermolytic palmoplantar keratoderma", "start": 86, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AQP5", "start": 13, "end": 17}, "tail": {"text": "nonepidermolytic palmoplantar keratoderma", "start": 86, "end": 127}}]}}, "schema": []}
{"input": "CRHR2-deficient mice display anxiety-like behavior, hypersensitivity to stress, altered feeding behavior and metabolism, and cardiovascular abnormalities.", "output": {"entities": {"gene": [{"text": "CRHR2", "start": 0, "end": 5}], "disease": [{"text": "hypersensitivity", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Here, we identified and characterized 3 patients with rare microdeletions of 2p15-p16. 1 who presented with an autism spectrum disorder and developmental delay.", "output": {"entities": {"gene": [{"text": "p16", "start": 82, "end": 85}], "disease": [{"text": "autism spectrum disorder", "start": 111, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "An elevation of additional genetic defects in tumors of patients with germ-line mutation in the BRCA2 gene compared with sporadic breast tumors has been reported.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 96, "end": 106}], "disease": [{"text": "sporadic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Wistar rats were submitted to a sham operation, 60 min ischemia, or 60 min ischemia plus saline or CAPE treatment followed by 6 h reperfusion.", "output": {"entities": {"gene": [{"text": "CAPE", "start": 99, "end": 103}], "disease": [{"text": "ischemia", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In a chronic model of DMN-induced fibrosis where DMN was administered for 6 weeks and GW6604 dosed for the last 3 weeks (80 mg kg (-1) p. o., b. i. d.", "output": {"entities": {"gene": [{"text": "DMN", "start": 22, "end": 25}], "disease": [{"text": "fibrosis", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Simultaneously, presence of Th17 related cytokines (TGF-β, IL-6, IL-17 and IL-23) decreased the number of FoxP3 + Treg cells concomitantly increasing IL-17 producing CD4 + cells in lepromatous leprosy.", "output": {"entities": {"gene": [{"text": "CD4", "start": 166, "end": 169}], "disease": [{"text": "lepromatous leprosy", "start": 181, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that inactivation of MLL3 and TET2 may play an important role in the tumorigenesis process of HTLV-I-induced ATL.", "output": {"entities": {"gene": [{"text": "MLL3", "start": 41, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).", "output": {"entities": {"gene": [{"text": "MTP", "start": 260, "end": 263}], "disease": [{"text": "blood spots", "start": 362, "end": 373}]}, "relations": {}}, "schema": []}
{"input": "Our data confirm the association of DEPDC5 with sporadic FCD but also implicate this gene for the first time in HME.", "output": {"entities": {"gene": [{"text": "HME", "start": 112, "end": 115}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Secretin increased heart rate by 14 beats/min (20% above base-line) and this also was not altered by propranolol pretreatment.", "output": {"entities": {"gene": [{"text": "Secretin", "start": 0, "end": 8}], "disease": [{"text": "increased heart rate", "start": 9, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Secretin", "start": 0, "end": 8}, "tail": {"text": "increased heart rate", "start": 9, "end": 29}}]}}, "schema": []}
{"input": "Clopidogrel pharmacokinetics and pharmacodynamics vary widely despite rigorous exclusion or control of known disease, polymorphisms (CYP2C19, CYP3A5, ABCB1, PON1), noncompliance, co-medications, diet, smoking, alcohol, demographics, and pre-treatment platelet hyperreactivity.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 150, "end": 155}], "disease": [{"text": "smoking", "start": 201, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Remarkably, metformin targeted the side population of T-ALL cell lines as well as a putative leukemia-initiating cell subpopulation (CD34 (+)/CD7 (-)/CD4 (-)) in patient samples.", "output": {"entities": {"gene": [{"text": "CD4", "start": 150, "end": 153}], "disease": [{"text": "leukemia", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In two other sporadic tumors (20%), loss of heterozygosity (LOH) of the p53 gene occurred.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 72, "end": 80}], "disease": [{"text": "sporadic", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "LEF-1 was aberrantly upregulated in premalignant Tcf7 (-/-) early thymocytes and lymphoma cells.", "output": {"entities": {"gene": [{"text": "Tcf7", "start": 49, "end": 53}], "disease": [{"text": "premalignant", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.", "output": {"entities": {"gene": [{"text": "ATM", "start": 29, "end": 32}], "disease": [{"text": "ataxia-telangiectasia", "start": 51, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 29, "end": 32}, "tail": {"text": "ataxia-telangiectasia", "start": 51, "end": 72}}]}}, "schema": []}
{"input": "Inflammatory bowel disease increases the risks of colon cancer and colitis-associated cancer (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 94, "end": 97}], "disease": [{"text": "colon cancer", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, CTS inhibited NF-kappaB translocation, expression of pro-inflammatory cytokines (TNF-alpha, IL-1beta, IL-6), neutrophil infiltration and MPO activity in ischemic myocardial tissues.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 94, "end": 103}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Quantitative multiplex methylation-specific PCR of 11 genes involved in breast carcinogenesis (RARB, RASSF1, TWIST1, CCND2, ESR1, SCGB3A1, BRCA1, BRCA2, CDKN2A, APC, CDH1) was carried out on 32 BRCA1-associated and 46 sporadic breast carcinomas and on normal breast tissue from seven BRCA1 mutation carriers and 13 non-carriers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 146, "end": 151}], "disease": [{"text": "sporadic", "start": 218, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Exons 8, 9, 13, and 17 of c-KIT and exons 12, 14, and 18 of PDGFRA had no abnormalities detected by electrophoresis and sequencing did not reveal any mutations, other than synonymous single nucleotide polymorphisms (SNPs) found in exon 11 of c-KIT and exons 12 and 14 of PDGFRA.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 60, "end": 66}], "disease": [{"text": "abnormalities", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "LD mapping showed nominally significant association in NTRK3, FLJ12484, RHCG, DKFZp547K1113, VPS33B, SV2B, SLCO3A1, RGMA, and MCTP2 with MDD-RE.", "output": {"entities": {"gene": [{"text": "MCTP2", "start": 126, "end": 131}], "disease": [{"text": "MDD-RE", "start": 137, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCTP2", "start": 126, "end": 131}, "tail": {"text": "MDD-RE", "start": 137, "end": 143}}]}}, "schema": []}
{"input": "Histone modifications were assessed by chromatin immunoprecipitation (ChIP) assay using antibodies against AcH3, AcH4, H3K4 and H3K9. sFRP2 was frequently repressed in primary cancers and in RCC cells.", "output": {"entities": {"gene": [{"text": "sFRP2", "start": 134, "end": 139}], "disease": [{"text": "RCC", "start": 191, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sFRP2", "start": 134, "end": 139}, "tail": {"text": "RCC", "start": 191, "end": 194}}]}}, "schema": []}
{"input": "Lumican maps within the chromosome 12q21-q23 autosomal dominant high grade myopia-3 (MYP3) interval, and fibromodulin maps to chromosome 1q32.", "output": {"entities": {"gene": [{"text": "fibromodulin", "start": 105, "end": 117}], "disease": [{"text": "myopia", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Because CPA4 was originally identified as a protein induced in a prostate cancer cell line (PC-3) by histone deacetylase inhibitors, and was located at the putative prostate cancer-aggressiveness locus at 7q32, we investigated its imprinting status in fetal tissues and in adult benign hypertrophic prostate (BPH).", "output": {"entities": {"gene": [{"text": "CPA4", "start": 8, "end": 12}], "disease": [{"text": "aggressiveness", "start": 181, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to investigate the effects of a 3-week residential multidisciplinary non-pharmacological treatment program (including individually prescribed aerobic exercise and cognitive-behavioral therapy) on fibromyalgia symptoms and hypothalamic-pituitary-adrenal (HPA) axis function.", "output": {"entities": {"gene": [{"text": "HPA", "start": 287, "end": 290}], "disease": [{"text": "fibromyalgia", "start": 229, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, serum starvation of NIH 3T3 cells expressing the ERBB4 mutants only moderately increased the phosphorylation of canonical ErbB signaling pathway effectors Erk1/2 and Akt as compared with wild-type ERBB4.", "output": {"entities": {"gene": [{"text": "ERBB4", "start": 64, "end": 69}], "disease": [{"text": "starvation", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Despite the unaltered infarct size in nude rats, IPostC increased levels of phosphorylated Akt (p-Akt) and Akt isoforms (Akt1, Akt2, Akt3), and p-mTOR, p-S6K and p-4EBP1 in the mTOR pathway, as well as growth associated Protein 43 (GAP43), both in the peri-infarct area and core, 24 h after stroke.", "output": {"entities": {"gene": [{"text": "GAP43", "start": 232, "end": 237}], "disease": [{"text": "infarct", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "These data establish that the protein kinase PKN1 inhibits Wnt/β-catenin signaling and sensitizes melanoma cells to cell death stimulated by WNT3A.", "output": {"entities": {"gene": [{"text": "PKN1", "start": 45, "end": 49}], "disease": [{"text": "melanoma", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Antigen-specific T cell immune response was further confirmed ex vivo by detection of IL-2-and IFN-gamma-producing CD4 (+) T cells, and in vivo by measuring increased levels of IFN-gamma in the serum and delayed-type hypersensitivity (DTH) responses.", "output": {"entities": {"gene": [{"text": "CD4", "start": 115, "end": 118}], "disease": [{"text": "hypersensitivity", "start": 217, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, NAT2 rs1799930 polymorphism is an important factor of lung squamous carcinoma resistance in Chinese smoking males.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 15, "end": 19}], "disease": [{"text": "smoking", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "These results are consistent with our previous findings in gastric cancer and support the hypothesis that genetic variants in TGFB1 and TGFBR2 may modulate the risk of ESCC.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 136, "end": 142}], "disease": [{"text": "ESCC", "start": 168, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBR2", "start": 136, "end": 142}, "tail": {"text": "ESCC", "start": 168, "end": 172}}]}}, "schema": []}
{"input": "The t (12; 21) translocation resulting in the TEL-AML1 gene fusion is found in 25% of childhood B-cell precursor (BCP) acute lymphoblastic leukemias (ALL).", "output": {"entities": {"gene": [{"text": "BCP", "start": 114, "end": 117}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "CLD patients without cirrhosis showed normal RBP4 concentrations, which correlated with serum glucose and insulin secretion and inversely correlated with insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 45, "end": 49}], "disease": [{"text": "insulin sensitivity", "start": 154, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The highest tumor-to-blood ratio (T/B) for medullary thyroid carcinoma (MTC) was 360; for follicular adenoma (FA), 190; for Hurthle cell adenoma (HCA), 140; and for Hurthle cell carcinoma (HCC) and papillary carcinoma (PC), 70.", "output": {"entities": {"gene": [{"text": "HCC", "start": 189, "end": 192}], "disease": [{"text": "papillary carcinoma", "start": 198, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Thus hypotension-evoked OT secretion may contribute to cardiovascular homeostasis by enhancing baroreceptor signals that stimulate increases in renin secretion, vasopressin secretion, and heart rate during arterial hypotension in rats.", "output": {"entities": {"gene": [{"text": "renin", "start": 144, "end": 149}], "disease": [{"text": "hypotension", "start": 5, "end": 16}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "renin", "start": 144, "end": 149}, "tail": {"text": "hypotension", "start": 5, "end": 16}}]}}, "schema": []}
{"input": "As we show that the expression of IL4I1 by a monocytic cell line inhibits T-cell proliferation and production of IFN-gamma and inflammatory cytokines, we propose that IL4I1 participates in the downregulation of Th1 inflammation in vivo.", "output": {"entities": {"gene": [{"text": "IL4I1", "start": 34, "end": 39}], "disease": [{"text": "inflammation", "start": 215, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We found that 1) the hypercalciuria and hypermagnesuria and decline (P < 0. 05) in plasma [Ca2 +] o and [Mg2 +] o that occur with AldoST were not altered by the Ca2 +-supplemented diet alone or with PTx; 2) the rise (P < 0. 05) in plasma PTH with AldoST, with or without the Ca2 +-supplemented diet, was prevented by PTx; 3) increased (P < 0. 05) PBMC [Ca2 +] i and H2O2 production, increased total Ca2 + in heart and skeletal muscle, and fall in bone Ca2 + and Mg2 + and plasma alpha1-antiproteinase activity with AldoST were abrogated (P < 0. 05) by PTx; and 4) gp91 (phox) activation in right and left ventricles at 4 wk of AldoST was attenuated by PTx.", "output": {"entities": {"gene": [{"text": "PTH", "start": 238, "end": 241}], "disease": [{"text": "fall", "start": 439, "end": 443}]}, "relations": {}}, "schema": []}
{"input": "Metabolism dysfunctions caused by ALR defection might be a crucial mechanism for aspermatogenesis of cryptorchidism.", "output": {"entities": {"gene": [{"text": "ALR", "start": 34, "end": 37}], "disease": [{"text": "aspermatogenesis", "start": 81, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Insulin receptor complementary DNA has been cloned from an insulin-resistant patient with leprechaunism whose receptors exhibited multiple abnormalities in insulin binding.", "output": {"entities": {"gene": [{"text": "Insulin receptor", "start": 0, "end": 16}], "disease": [{"text": "leprechaunism", "start": 90, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Insulin receptor", "start": 0, "end": 16}, "tail": {"text": "leprechaunism", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "Intraperitoneal injection of LSD1 inhibitor pargyline from 3 d to 14 d after inoculation of MRMT-1 cancer cells reduced bone cancer pain behaviors.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 29, "end": 33}], "disease": [{"text": "cancer pain", "start": 125, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, heparin induces the transient production of anti-H/PF4 antibodies in children undergoing hemodialysis, but other abnormalities probably contribute to hypercoagulability.", "output": {"entities": {"gene": [{"text": "PF4", "start": 66, "end": 69}], "disease": [{"text": "abnormalities", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Among nonsmokers, the HPRT mutational spectra in healthy population controls and lung cancer patients were similar, but there was a marginally significant difference (P = 0. 07) in the distribution of base pair substitutions between smoking controls and patients.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 22, "end": 26}], "disease": [{"text": "smoking", "start": 233, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "The genetic factor, NAT2 polymorphism, may interact with environmental factor, smoking, to confer different susceptibilities to ALC.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 20, "end": 24}], "disease": [{"text": "smoking", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We report the occurrence of bilateral ectasia after PRK in a patient with asymmetric bowtie topographies.", "output": {"entities": {"gene": [{"text": "PRK", "start": 52, "end": 55}], "disease": [{"text": "ectasia", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of sporadic MTC did not reveal any sequence variants in NTRK2 but did reveal 3 variants in NTRK3, c. 573C > T (N191N, exon 5), c. 678T > C (N226N, exon 6) and c. 1488C > G (A496A, exon 12) occurring among 19 chromosomes (31%), 1 chromosome (2%) and 24 chromosomes (39%), respectively.", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 74, "end": 79}], "disease": [{"text": "sporadic", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 22, "end": 43}], "disease": [{"text": "Hunter syndrome", "start": 57, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 22, "end": 43}, "tail": {"text": "Hunter syndrome", "start": 57, "end": 72}}]}}, "schema": []}
{"input": "Individuals with HCC presented higher TNF-α/IL-10 ratio than those with fibrosis grade F4, F3 or F0 + F1 + F2 (p = 0. 0003, p < 0. 0001, p < 0. 0001, respectively).", "output": {"entities": {"gene": [{"text": "HCC", "start": 17, "end": 20}], "disease": [{"text": "fibrosis", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of the VEGF-induced leukostasis by PEDF is most likely responsible for the low incidence of capillary occlusion and retinal neovascularization in SDT rats.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 50, "end": 54}], "disease": [{"text": "retinal neovascularization", "start": 131, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Only circulating IGF2R, age, and BMI were independently associated with the degree of insulin resistance, as assessed by the HOMA model.", "output": {"entities": {"gene": [{"text": "IGF2R", "start": 17, "end": 22}], "disease": [{"text": "insulin resistance", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Most of the 38 microsatellite markers did not display microsatellite instability (MSI) in more than 30% of the tumor samples, except D9S942 (p14ARF, p15INK4b, p16INK4a loci) and Bat26, which showed frequency at 32 and 41%, respectively.", "output": {"entities": {"gene": [{"text": "p15INK4b", "start": 149, "end": 157}], "disease": [{"text": "microsatellite instability", "start": 54, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of MUC5AC, MUC5B and MUC2 have been described in asthma secretions, but identification of defined biochemical abnormalities and polymorphisms of mucin genes linked to asthma remains elusive.", "output": {"entities": {"gene": [{"text": "MUC5B", "start": 26, "end": 31}], "disease": [{"text": "abnormalities", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 117, "end": 142}], "disease": [{"text": "Acute intermittent porphyria", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 117, "end": 142}, "tail": {"text": "Acute intermittent porphyria", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "Although these SNPs are associated with NSCLC risk in patients with a tobacco-smoking habit, this study demonstrated that XRCC1 and CLPTM1L gene SPNs are not linked with NSCLC risk in non-smoking patients, indicating that molecular mechanisms of NSCLC betwee tobacco smokers and non-smokers may be different.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 122, "end": 127}], "disease": [{"text": "smoking", "start": 78, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "He had a depressed affect, postural tremor, right arm weakness with partial denervation on EMG, and borderline-low sensory nerve action potential (SNAP) amplitudes.", "output": {"entities": {"gene": [{"text": "SNAP", "start": 147, "end": 151}], "disease": [{"text": "postural tremor", "start": 27, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The nucleotide (nt) variations in the promoter region of the gamma-globin genes, HS-111 and 3' HS1 regions, were studied in Iranian patients with beta-thalassemia intermedia (beta-TI), beta-thalassemia major (beta-TM) and healthy individuals.", "output": {"entities": {"gene": [{"text": "HS1", "start": 95, "end": 98}], "disease": [{"text": "thalassemia major", "start": 190, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR).", "output": {"entities": {"gene": [{"text": "VPS33B", "start": 175, "end": 181}], "disease": [{"text": "ARC) syndrome", "start": 46, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VPS33B", "start": 175, "end": 181}, "tail": {"text": "ARC) syndrome", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "In addition, a new heterozygous KISS1R variant (p. E252Q) was identified in a male patient with sporadic nIHH.", "output": {"entities": {"gene": [{"text": "KISS1R", "start": 32, "end": 38}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms and the proximity of the locus to numerous linkage signals on chromosome 12q23.", "output": {"entities": {"gene": [{"text": "RFX4", "start": 43, "end": 47}], "disease": [{"text": "circadian rhythms", "start": 210, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "To evaluate whether hyperglycaemia in two lean patients with primary severe insulin resistance due to insulin receptor (IR) mutations and diabetes mellitus could be reduced by supplement of rosiglitazone for 180 days and secondary, to evaluate the effects on plasma NEFA, TG, Apo B, PAI-1 and serum insulin.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 266, "end": 270}], "disease": [{"text": "insulin resistance", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Finally, adipose tissue autotaxin expression was significantly up-regulated in patients exhibiting both insulin resistance and impaired glucose tolerance.", "output": {"entities": {"gene": [{"text": "autotaxin", "start": 24, "end": 33}], "disease": [{"text": "insulin resistance", "start": 104, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for.", "output": {"entities": {"gene": [{"text": "MYO7A", "start": 46, "end": 51}], "disease": [{"text": "USH1", "start": 40, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYO7A", "start": 46, "end": 51}, "tail": {"text": "USH1", "start": 40, "end": 44}}]}}, "schema": []}
{"input": "We observed a gradual increase in methylation from sporadic control tissue (median cumulative methylation index (CMI) 568. 19) through normal tissue and from areas of p53 accumulation in BRCA carriers (median CMI 687. 54 and 676. 72) to FTC (median CMI 780. 97).", "output": {"entities": {"gene": [{"text": "p53", "start": 167, "end": 170}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the regulation of several genes and proteins involved in the activation of key signaling pathways promoting muscle hypertrophy, including GH/STAT5, IGF-1/Akt/GSK-3beta/4E-BP1, and muscle atrophy, including TNFalpha/SOCS-3 and Akt/FKHR/atrogene, in muscle biopsies from 13 young (20 +/-0. 2 years) and 16 older (70 +/-0. 3 years) males.", "output": {"entities": {"gene": [{"text": "BP1", "start": 195, "end": 198}], "disease": [{"text": "muscle atrophy", "start": 204, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "We analysed the relationship between TNFalpha expression, adipocyte LPL activity, insulin resistance and leptin in this population.", "output": {"entities": {"gene": [{"text": "LPL", "start": 68, "end": 71}], "disease": [{"text": "insulin resistance", "start": 82, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "VEGF SNP-634 genotype was associated with the prevalence and duration of sunitinib-induced hypertension (as defined by systolic pressure ≥ 150 mmHg and/or diastolic pressure ≥ 90 mmHg) in both univariable analysis (P =. 03 and. 01, respectively) and multivariable analysis, which adjusted for baseline BP and use of antihypertension medication (P =. 05 and. 02, respectively).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "systolic pressure", "start": 119, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "PORCN protein thus appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Transcript levels of spinophilin, a protein enriched in dendritic spines that modulates excitatory neurotransmission, were increased 22% in dorsolateral prefrontal cortex but were unchanged in anterior cingulate cortex in schizophrenia.", "output": {"entities": {"gene": [{"text": "spinophilin", "start": 21, "end": 32}], "disease": [{"text": "schizophrenia", "start": 222, "end": 235}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "spinophilin", "start": 21, "end": 32}, "tail": {"text": "schizophrenia", "start": 222, "end": 235}}]}}, "schema": []}
{"input": "Rap1GAP is thought of as a putative tumor suppressor gene and plays an important role in human tumor progression including pancreatic cancer, thyroid cancer and melanoma.", "output": {"entities": {"gene": [{"text": "Rap1GAP", "start": 0, "end": 7}], "disease": [{"text": "thyroid cancer", "start": 142, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rap1GAP", "start": 0, "end": 7}, "tail": {"text": "thyroid cancer", "start": 142, "end": 156}}]}}, "schema": []}
{"input": "The variable appearance and/or description of haploinsufficiency for obesity susceptibility in the WAGR syndrome mainly depends on the critical region located within 80 kb of exon 1 of BDNF.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 185, "end": 189}], "disease": [{"text": "WAGR syndrome", "start": 99, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BDNF", "start": 185, "end": 189}, "tail": {"text": "WAGR syndrome", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "Lastly, in view of the potent antagonist action of GR127935, the sumatriptan-induced hypotension in rabbits seems to be mediated by 5-HT (1B/D) receptors.", "output": {"entities": {"gene": [{"text": "5-HT (1B", "start": 132, "end": 140}], "disease": [{"text": "hypotension", "start": 85, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (1B", "start": 132, "end": 140}, "tail": {"text": "hypotension", "start": 85, "end": 96}}]}}, "schema": []}
{"input": "A patient under Taxol and granulocyte colony stimulating factor (G-CSF, Neupogen) treatment for metastatic breast carcinoma of the liver experienced repeated suicidal depression on days 10 and 11 of therapy.", "output": {"entities": {"gene": [{"text": "granulocyte colony stimulating factor", "start": 26, "end": 63}], "disease": [{"text": "breast carcinoma", "start": 107, "end": 123}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony stimulating factor", "start": 26, "end": 63}, "tail": {"text": "breast carcinoma", "start": 107, "end": 123}}]}}, "schema": []}
{"input": "In this study, total RNA was extracted from 30 tumor tissues and 30 nontumor tissues of esophageal tumor margins, using RNX-plus solution.", "output": {"entities": {"gene": [{"text": "RNX", "start": 120, "end": 123}], "disease": [{"text": "esophageal tumor", "start": 88, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In summary, in transgenic mice with podocyte COX-2 overexpression, PAN increased albuminuria and induced foot process fusion.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 45, "end": 50}], "disease": [{"text": "albuminuria", "start": 81, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 45, "end": 50}, "tail": {"text": "albuminuria", "start": 81, "end": 92}}]}}, "schema": []}
{"input": "Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.", "output": {"entities": {"gene": [{"text": "TP53 genes", "start": 21, "end": 31}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.", "output": {"entities": {"gene": [{"text": "STAT6", "start": 249, "end": 254}], "disease": [{"text": "regression", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Our study demonstrates that EDAR is implicated in about 25% of non-ED1 HED, and may account for both autosomal-dominant and-recessive forms.", "output": {"entities": {"gene": [{"text": "EDAR", "start": 28, "end": 32}], "disease": [{"text": "HED", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDAR", "start": 28, "end": 32}, "tail": {"text": "HED", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "Our results suggested that RhoE expression in gastric cancer cells was regulated by histone deacetylation, but not by DNA methylation, at the epigenetic level.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 27, "end": 31}], "disease": [{"text": "gastric cancer", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "To assess the role of this protein in tumorigenesis, we investigated whether induced overexpression of bamacan/SMC3 could transform normal fibroblasts.", "output": {"entities": {"gene": [{"text": "SMC3", "start": 111, "end": 115}], "disease": [{"text": "tumorigenesis", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "A phase I clinical trial in patients with advanced carcinoma was conducted, using a replication-defective avipox vaccine containing the gene for the human carcinoembryonic antigen (CEA).", "output": {"entities": {"gene": [{"text": "CEA", "start": 181, "end": 184}], "disease": [{"text": "advanced carcinoma", "start": 42, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that oral administration of resveratrol, which leads to activation of an NAD (+)-dependent protein deacetylase SIRT1, suppresses cardiac hypertrophy and fibrosis and restores cardiac diastolic function in dystrophin-deficient mdx mice.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 219, "end": 229}], "disease": [{"text": "cardiac hypertrophy", "start": 143, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dystrophin", "start": 219, "end": 229}, "tail": {"text": "cardiac hypertrophy", "start": 143, "end": 162}}]}}, "schema": []}
{"input": "Combination therapy with IMC-C225 (1 mg) and the MTD of CPT-11 (150 mg/kg) resulted in a regression rate of 100 and 60% of established DLD-1 and HT-29 tumors, respectively.", "output": {"entities": {"gene": [{"text": "DLD", "start": 135, "end": 138}], "disease": [{"text": "regression", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "To assess the relationship between paclitaxel-resistance and class I beta-tubulin gene mutation in breast cancer, Japanese patients with breast cancer were screened for the class I beta-tubulin gene mutation.", "output": {"entities": {"gene": [{"text": "class I beta-tubulin", "start": 61, "end": 81}], "disease": [{"text": "breast cancer", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Mapping and characterization of the amplicon near APOA2 in 1q23 in human sarcomas by FISH and array CGH.", "output": {"entities": {"gene": [{"text": "APOA2", "start": 50, "end": 55}], "disease": [{"text": "sarcomas", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "On Day 21, there was significant aortic neointima formation with increased oxidative DNA damage by immunostaining with 8-hydroxy-2'-deoxyguanosine and enhanced MMP-2 and MMP-9 expressions by Western blotting, which were significantly reduced by oral administration of carvedilol (20 mg/kg/day) or probucol (100 mg/kg/day).", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 170, "end": 175}], "disease": [{"text": "neointima formation", "start": 40, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 170, "end": 175}, "tail": {"text": "neointima formation", "start": 40, "end": 59}}]}}, "schema": []}
{"input": "Expression of EP2 and EP4 in human gastric carcinoma cells, however, has not been examined.", "output": {"entities": {"gene": [{"text": "EP2", "start": 14, "end": 17}], "disease": [{"text": "gastric carcinoma", "start": 35, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Two patients each had either pulmonary chondroma or paraganglioma (CT), but none of the examined cases had SDH germline mutations (CSS) or somatic KIT/PDGFRA or BRAF mutations.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 151, "end": 157}], "disease": [{"text": "pulmonary chondroma", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Several components of the inflammatory system, including cytokines, chemokines, cell adhesion molecules and neuropeptide substance P, have been reported to participate in adhesion formation.", "output": {"entities": {"gene": [{"text": "substance P", "start": 121, "end": 132}], "disease": [{"text": "adhesion", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Then we applied this approach to screen a group of idiopathic infertile men in which the DAZ genes presence was previously assessed by standard PCR analysis.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 89, "end": 92}], "disease": [{"text": "infertile", "start": 62, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of TTV detected by PCR primers set A only, set B only, and in total (by either set A or B) was 11 (31%), 31 (86%), and 31 (86%) of 36 patients with chronic hepatitis; 2 (40%), 4 (80%), and 4 (80%) of 5 with cirrhosis; 11 (39%), 17 (61%), and 22 (79%) of 28 with hepatocellular carcinoma; and 9 (18%), 39 (78%), and 40 (80%) of 50 volunteer blood donors, respectively.", "output": {"entities": {"gene": [{"text": "TTV", "start": 18, "end": 21}], "disease": [{"text": "chronic hepatitis", "start": 163, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4B).", "output": {"entities": {"gene": [{"text": "CEACAM16", "start": 13, "end": 21}], "disease": [{"text": "DFNA4B", "start": 74, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CEACAM16", "start": 13, "end": 21}, "tail": {"text": "DFNA4B", "start": 74, "end": 80}}]}}, "schema": []}
{"input": "Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.", "output": {"entities": {"gene": [{"text": "STAMBP", "start": 13, "end": 19}], "disease": [{"text": "microcephaly-capillary malformation syndrome", "start": 63, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAMBP", "start": 13, "end": 19}, "tail": {"text": "microcephaly-capillary malformation syndrome", "start": 63, "end": 107}}]}}, "schema": []}
{"input": "As compared with wild-type littermates, CCR2-/-mice had a decrease in granuloma size accompanied by a dramatic decrease in the level of interferon gamma in the draining lymph nodes.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 40, "end": 44}], "disease": [{"text": "granuloma", "start": 70, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: Whether the mutant allele frequency (MAF) may also have predictive implications for tyrosine kinase inhibitor (TKI) therapy in patients with advanced epidermal growth factor receptor (EGFR)-mutated lung adenocarcinoma (AELAd) remains unknown.", "output": {"entities": {"gene": [{"text": "MAF", "start": 49, "end": 52}], "disease": [{"text": "lung adenocarcinoma", "start": 210, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Histone modifications were assessed by chromatin immunoprecipitation (ChIP) assay using antibodies against AcH3, AcH4, H3K4 and H3K9. sFRP2 was frequently repressed in primary cancers and in RCC cells.", "output": {"entities": {"gene": [{"text": "sFRP2", "start": 134, "end": 139}], "disease": [{"text": "RCC", "start": 191, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sFRP2", "start": 134, "end": 139}, "tail": {"text": "RCC", "start": 191, "end": 194}}]}}, "schema": []}
{"input": "These include previously unrecognized putative cancer drivers (RPS15, IKZF3), and collectively identify RNA processing and export, MYC activity, and MAPK signalling as central pathways involved in CLL.", "output": {"entities": {"gene": [{"text": "RPS15", "start": 63, "end": 68}], "disease": [{"text": "CLL", "start": 197, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RPS15", "start": 63, "end": 68}, "tail": {"text": "CLL", "start": 197, "end": 200}}]}}, "schema": []}
{"input": "Tumor suppressor FOXO3 participates in the regulation of intestinal inflammation.", "output": {"entities": {"gene": [{"text": "FOXO3", "start": 17, "end": 22}], "disease": [{"text": "inflammation", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The tissue formation process in nodular palmar fibromatosis (Morbus Dupuytren) was investigated by the demonstration of fibronectin splice variants (ED-A and ED-B fibronectin), de novo glycosylated fibronectin and laminin isoforms (A, M, B1, B2, s chains) in association to the proliferative activity (Ki-67 antigen) and the occurrence of myofibroblast phenotype (alpha-smooth muscle actin, desmin).", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 370, "end": 389}], "disease": [{"text": "palmar fibromatosis", "start": 40, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarray slides containing totally 80 cores with 19 tissues of HCC, 1 tissue of hepatocholangiocarcinoma, 10 tissues of liver cirrhosis and 10 normal liver tissues in duplicates were analyzed for expression of RPS27A and YB-1 by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 230, "end": 234}], "disease": [{"text": "liver cirrhosis", "start": 129, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.", "output": {"entities": {"gene": [{"text": "alpha-N-acetylgalactosaminidase", "start": 47, "end": 78}], "disease": [{"text": "Schindler disease", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-N-acetylgalactosaminidase", "start": 47, "end": 78}, "tail": {"text": "Schindler disease", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.", "output": {"entities": {"gene": [{"text": "TGFB2", "start": 0, "end": 5}], "disease": [{"text": "thoracic aortic aneurysms and dissections", "start": 31, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGFB2", "start": 0, "end": 5}, "tail": {"text": "thoracic aortic aneurysms and dissections", "start": 31, "end": 72}}]}}, "schema": []}
{"input": "AMH is a more accurate predictor of individual TTM than mother' s age at menopause.", "output": {"entities": {"gene": [{"text": "AMH", "start": 0, "end": 3}], "disease": [{"text": "age at menopause", "start": 66, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Yorkshire pigs (n = 12) underwent ischemia-reperfusion (90 minutes ischemia and 120 minutes reperfusion), where regional preload recruitable stroke work (sonomicrometry), interstitial MT1-MMP activity (microdialysis), Smad2 abundance (immunoblotting), and interstitial microRNA-133a (polymerase chain reaction) were determined within the ischemia-reperfusion and remote regions.", "output": {"entities": {"gene": [{"text": "Smad2", "start": 218, "end": 223}], "disease": [{"text": "ischemia", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.", "output": {"entities": {"gene": [{"text": "SLC22A12", "start": 38, "end": 46}], "disease": [{"text": "renal hypouricemia", "start": 66, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC22A12", "start": 38, "end": 46}, "tail": {"text": "renal hypouricemia", "start": 66, "end": 84}}]}}, "schema": []}
{"input": "Taken together these results show that CNT3 and ENT2 play a key role in the transport of 6-MP and 6-TG by leukemia cells.", "output": {"entities": {"gene": [{"text": "CNT3", "start": 39, "end": 43}], "disease": [{"text": "leukemia", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "To assess the contributions of hypertension, left ventricular hypertrophy (LVH), the renin-angiotensin-aldosterone system (RAS), and the sympathetic nervous system to these changes, ventricular expression of AC V mRNA was measured at different ages in spontaneously hypertensive rats (SHRs).", "output": {"entities": {"gene": [{"text": "AC V", "start": 208, "end": 212}], "disease": [{"text": "hypertension", "start": 31, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AC V", "start": 208, "end": 212}, "tail": {"text": "hypertension", "start": 31, "end": 43}}]}}, "schema": []}
{"input": "Spinal cord trauma was associated with a significant increase in oxidative stress, and activation of NF-kappaB, AP-1 and CREB, as well as overexpression of MCP-1 and TNF-alpha in both the thoracic and lumbar regions.", "output": {"entities": {"gene": [{"text": "CREB", "start": 121, "end": 125}], "disease": [{"text": "thoracic", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Other common SNPs of AURKA should be investigated in further studies because of its location on a prostate cancer susceptibility locus.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 21, "end": 26}], "disease": [{"text": "prostate cancer susceptibility", "start": 98, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The present study demonstrates that initiation of HAART in infected individuals as early as 10 days after the onset of symptoms of primary HIV-1 infection did not prevent generation of latently infected, resting CD4 (+) T cells carrying integrated HIV-1 DNA as well as infectious HIV-1 despite the successful control of plasma viremia shortly after institution of HAART.", "output": {"entities": {"gene": [{"text": "CD4", "start": 212, "end": 215}], "disease": [{"text": "viremia", "start": 327, "end": 334}]}, "relations": {}}, "schema": []}
{"input": "Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.", "output": {"entities": {"gene": [{"text": "TP53", "start": 24, "end": 28}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To identify the molecular mechanisms of MIA regulating pigmentation, MITF and PAX3, two positive regulators of Trp-1 and tyrosinase transcription, and PIAS3, a negative regulator of MITF activity, were analyzed.", "output": {"entities": {"gene": [{"text": "MIA", "start": 40, "end": 43}], "disease": [{"text": "pigmentation", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We measured the VFA and SFA of 1424 obese Japanese subjects (BMI ≥ 25 kg/m (2), 635 men and 789 women) who were genotyped for 13 single nucleotide polymorphisms (SNPs) reported by recent GWASs, namely, TNNI3K rs1514175, PTBP2 rs1555543, ADCY3 rs713586, IRS1 rs2943650, POC5 rs2112347, NUDT3 rs206936, LINGO2 rs10968576, STK33 rs4929949, MTIF3 rs4771122, SPRY2 rs534870, MAP2K5 rs2241423, QPCTL rs2287019, and ZC3H4 rs3810291.", "output": {"entities": {"gene": [{"text": "SPRY2", "start": 354, "end": 359}], "disease": [{"text": "obese", "start": 36, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Elevated levels of TWEAK in skeletal muscle promote visceral obesity, insulin resistance, and metabolic dysfunction.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 19, "end": 24}], "disease": [{"text": "insulin resistance", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Prostate apoptosis response-4 (Par-4) is a unique pro-apoptotic molecule that is capable of selectively inducing apoptosis in cancer cells when over-expressed, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models.", "output": {"entities": {"gene": [{"text": "Par-4", "start": 31, "end": 36}], "disease": [{"text": "regression", "start": 223, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Our data implicate PDK-1 and downstream components of the PDK-1 signaling pathway as promising therapeutic targets for the treatment of breast cancer.", "output": {"entities": {"gene": [{"text": "PDK-1", "start": 19, "end": 24}], "disease": [{"text": "breast cancer", "start": 136, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDK-1", "start": 19, "end": 24}, "tail": {"text": "breast cancer", "start": 136, "end": 149}}]}}, "schema": []}
{"input": "The results of the present study suggest that MMP-2 and MMP-9 inhibition in the presence of COX inhibitor prevents the development of experimental diabetic neuropathy in rats and can be a potential approach for the treatment.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 56, "end": 61}], "disease": [{"text": "diabetic neuropathy", "start": 147, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 56, "end": 61}, "tail": {"text": "diabetic neuropathy", "start": 147, "end": 166}}]}}, "schema": []}
{"input": "On the other hand, TMP enhanced the expression of inhibitor κappa B and anti-inflammation cytokine interleukin-10.", "output": {"entities": {"gene": [{"text": "TMP", "start": 19, "end": 22}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The non-silent polymorphisms of MGMT (84: Phe, 143: Val, 178: Arg) and TDG (199: Ser, 367: Met), and the functional MGMT enhancer polymorphism, did not show any statistically significant association with lung cancer risk in our case-control analysis, but due to the relatively small number of individuals, strong conclusions on cancer risk association or lack thereof cannot be made.", "output": {"entities": {"gene": [{"text": "TDG", "start": 71, "end": 74}], "disease": [{"text": "lung cancer", "start": 204, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "There was no detectable serum anti-GM-CSF antibody in 50 outpatients with advanced silicosis who did not have PAP, suggesting that anti-GM-CSF antibody is directly linked to PAP but not to silicosis.", "output": {"entities": {"gene": [{"text": "PAP", "start": 110, "end": 113}], "disease": [{"text": "silicosis", "start": 83, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Seventy proteins were altered by dehydration, including 45 in the NIL and 25 in the SON.", "output": {"entities": {"gene": [{"text": "SON", "start": 84, "end": 87}], "disease": [{"text": "dehydration", "start": 33, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We collected and analyzed 12 aneurismal and 9 peripheral arteries (superficial temporal (STA) and middle meningeal artery (MMA) specimens from ruptured aneurysm group patients (13 cases), 10 aneurismal and 12 STA and MMA samples from unruptured aneurysm group patients (14 cases) and 5 STA and MMA artery specimens from control group patients (4 cases).", "output": {"entities": {"gene": [{"text": "STA", "start": 89, "end": 92}], "disease": [{"text": "ruptured aneurysm", "start": 143, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.", "output": {"entities": {"gene": [{"text": "LONP1", "start": 13, "end": 18}], "disease": [{"text": "CODAS syndrome", "start": 59, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LONP1", "start": 13, "end": 18}, "tail": {"text": "CODAS syndrome", "start": 59, "end": 73}}]}}, "schema": []}
{"input": "Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma.", "output": {"entities": {"gene": [{"text": "cytokeratin 7", "start": 20, "end": 33}], "disease": [{"text": "renal oncocytoma", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Loss of this protection through conformational rearrangement in the metal-deficient enzyme could be a toxic property common to mutants of SOD1 linked to FALS.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 138, "end": 142}], "disease": [{"text": "FALS", "start": 153, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOD1", "start": 138, "end": 142}, "tail": {"text": "FALS", "start": 153, "end": 157}}]}}, "schema": []}
{"input": "The aim of this study was to investigate genetic changes of the TP53 (tumor protein p53) and FHIT (fragile histidine triad) genes in precursor lesion such as chronic esophagitis (CE) and in esophageal squamous cell carcinoma (ESCC).", "output": {"entities": {"gene": [{"text": "fragile histidine triad", "start": 99, "end": 122}], "disease": [{"text": "chronic esophagitis", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that EPO exerts renoprotection on an experimental model of LPS-induced AKI.", "output": {"entities": {"gene": [{"text": "EPO", "start": 25, "end": 28}], "disease": [{"text": "AKI", "start": 91, "end": 94}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EPO", "start": 25, "end": 28}, "tail": {"text": "AKI", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "The TGIF mRNA and protein expressions were statistically significantly higher in the leiomyoma compared with the matched, unaffected myometrial tissues in both phases of the menstrual cycle.", "output": {"entities": {"gene": [{"text": "TGIF", "start": 4, "end": 8}], "disease": [{"text": "leiomyoma", "start": 85, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis of MDM2 and p53 proteins on paraffin embedded sections from 64 surgically resected ESCCs and matched histologically normal tissues showed overexpression of MDM2 protein in 23/64 (36%) ESCCs, while the histopathologically normal esophageal tissues did not show detectable level of MDM2 immunoreactivity.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 32, "end": 36}], "disease": [{"text": "esophageal", "start": 257, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, BRCA1 bound to the TWIST promoter, suppressing its activity and inhibiting EMT in mammary tumor cells.", "output": {"entities": {"gene": [{"text": "EMT", "start": 92, "end": 95}], "disease": [{"text": "mammary tumor", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The results of the present study suggest that t (1; 3) (p36; p21) in hematologic diseases is associated with prior exposure to mutagens, including alkylating agents.", "output": {"entities": {"gene": [{"text": "p21", "start": 61, "end": 64}], "disease": [{"text": "hematologic diseases", "start": 69, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms related to ORMDL3 are associated with asthma susceptibility, alterations in transcriptional regulation of ORMDL3, and changes in TH2 cytokine levels.", "output": {"entities": {"gene": [{"text": "ORMDL3", "start": 25, "end": 31}], "disease": [{"text": "asthma susceptibility", "start": 52, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The sites of increased proteolytic activity may contribute to localized neovascularization and promote the rapid breakdown of ECM components, which result in mural weakening and eventual rupture of untreated aortic aneurysms.", "output": {"entities": {"gene": [{"text": "ECM", "start": 126, "end": 129}], "disease": [{"text": "aortic aneurysms", "start": 208, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase and tensin homologue deleted on chromosome 10) has been shown to be inactivated in a wide variety of cancers, and the role of this gene as a tumor suppressor has been well established.", "output": {"entities": {"gene": [{"text": "tensin", "start": 22, "end": 28}], "disease": [{"text": "cancers", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In summary, TNFalpha inactivates FOXO3 in intestinal epithelia through the PI3K and IKK pathways and FOXO3 inactivation leads to the upregulation of IL-8 in vitro; in vivo Foxo3 is in the cytosol of inflamed colonic epithelia and Foxo3 deficiency leads to severe intestinal inflammation.", "output": {"entities": {"gene": [{"text": "Foxo3", "start": 172, "end": 177}], "disease": [{"text": "inflammation", "start": 274, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "APOBEC3C", "start": 42, "end": 50}], "disease": [{"text": "psychosis", "start": 165, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3C", "start": 42, "end": 50}, "tail": {"text": "psychosis", "start": 165, "end": 174}}]}}, "schema": []}
{"input": "By immunophenotyping, myeloid leukemia was diagnosed in five patients, including one patient with FAB-L1 leukemia who typed as terminal transferase (TdT) +, CD7 T-cell antigen + acute myelomonocytic leukemia.", "output": {"entities": {"gene": [{"text": "terminal transferase", "start": 127, "end": 147}], "disease": [{"text": "myeloid leukemia", "start": 22, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The occurrence of the A1166C transition in the AT1 receptor gene and the A-1332G transition in the AT2 receptor gene were evaluated and compared with the incidence in normal controls with no urological abnormalities.", "output": {"entities": {"gene": [{"text": "AT2", "start": 99, "end": 102}], "disease": [{"text": "abnormalities", "start": 202, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "The genotypes of XRCC1 gene rs25487 polymorphism (P = 0. 003) differed significantly between patients and controls, even after the Bonferroni correction (P < 0. 05/5), and this polymorphism was significantly associated with gastric cancer after adjusting for age, sex, body mass index, smoking, drinking, especially under a dominant model (odds ratio or OR; 95% confidence interval or CI; P 1. 59; 1. 20-2. 00; 0. 001).", "output": {"entities": {"gene": [{"text": "XRCC1 gene", "start": 17, "end": 27}], "disease": [{"text": "smoking", "start": 286, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Those with USH2 have moderate to severe congenital hearing loss, non-vestibular dysfunction and a later onset of RP.", "output": {"entities": {"gene": [{"text": "USH2", "start": 11, "end": 15}], "disease": [{"text": "vestibular dysfunction", "start": 69, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.", "output": {"entities": {"gene": [{"text": "XNP", "start": 17, "end": 20}], "disease": [{"text": "ATR/X syndrome", "start": 94, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XNP", "start": 17, "end": 20}, "tail": {"text": "ATR/X syndrome", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "In contrast, CD80-transfected AML cells induced T-cell proliferation of HLA-identical bone marrow donor peripheral blood mononuclear cell (PBMC) in primary MLR, allowing the generation of leukemia reactive CD4 (+) T-cell lines and clones.", "output": {"entities": {"gene": [{"text": "CD4", "start": 206, "end": 209}], "disease": [{"text": "leukemia", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Mutation was associated to a significant fall in post-fibrinolysis concentration TAFI antigen and functional TAFI (p = 0. 01) and (p = 0. 02), and lower frequency of reperfusion.", "output": {"entities": {"gene": [{"text": "TAFI", "start": 81, "end": 85}], "disease": [{"text": "fall", "start": 41, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Vast majority of the soft tissue cases share the same translocation and the resulting EWSR1-CREB1 gene fusion as background pathogenetic alteration.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 86, "end": 91}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.", "output": {"entities": {"gene": [{"text": "GNPTG", "start": 40, "end": 45}], "disease": [{"text": "mucolipidosis type III gamma", "start": 62, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTG", "start": 40, "end": 45}, "tail": {"text": "mucolipidosis type III gamma", "start": 62, "end": 90}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the local and systemic expression of CC-chemokine ligand 3 (CCL3) and its receptors (CCR1 and CCR5) in tissue samples and peripheral blood mononuclear cells of recurrent aphthous stomatitis (RAS) patients.", "output": {"entities": {"gene": [{"text": "CCL3", "start": 101, "end": 105}], "disease": [{"text": "recurrent aphthous stomatitis", "start": 201, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "After adjustment for age, gender, and vascular risk factors, the ACT-TT genotype remained independently associated with HS (OR 2. 80, 95% CI 1. 19 to 6. 58, compared with asymptomatic control subjects; OR 1. 79, 95% CI 0. 95 to 3. 40, compared with symptomatic control subjects).", "output": {"entities": {"gene": [{"text": "ACT", "start": 65, "end": 68}], "disease": [{"text": "asymptomatic", "start": 171, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Higher TAP2 expression was associated with the risk allele in both FL and DLBCL tumors.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 7, "end": 11}], "disease": [{"text": "tumors", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Some HCC cells produced the crucial bone resorption regulator RANKL.", "output": {"entities": {"gene": [{"text": "HCC", "start": 5, "end": 8}], "disease": [{"text": "bone resorption", "start": 36, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Cowden syndrome (CS) or multiple hamartoma syndrome (MIM 158350) is an autosomal dominant disorder with an increased risk for breast and thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "MIM", "start": 53, "end": 56}], "disease": [{"text": "multiple hamartoma syndrome", "start": 24, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In children carrying an FLG mutation, the threshold level for peanut SPT sensitization was 0. 92 μg of peanut protein per gram (95% CI, 0. 70-1. 22 μg/g), that for CRD sensitization was 1. 03 μg/g (95% CI, 0. 90-1. 82 μg/g), and that for peanut allergy was 1. 17 μg/g (95% CI, 0. 01-163. 83 μg/g).", "output": {"entities": {"gene": [{"text": "FLG", "start": 24, "end": 27}], "disease": [{"text": "peanut allergy", "start": 238, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Matrilysin mRNA expression in sporadic adenomas correlated with the degree of dysplasia and the size of the mass, whereas most of the adenomas in patients with familial adenomatous polyposis coli expressed matrilysin mRNA irrespective of adenoma size or degree of dysplasia.", "output": {"entities": {"gene": [{"text": "matrilysin", "start": 206, "end": 216}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Brd4-depleted mice display reversible epidermal hyperplasia, alopecia, and decreased cellular diversity and stem cell depletion in the small intestine.", "output": {"entities": {"gene": [{"text": "Brd4", "start": 0, "end": 4}], "disease": [{"text": "alopecia", "start": 61, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Brd4", "start": 0, "end": 4}, "tail": {"text": "alopecia", "start": 61, "end": 69}}]}}, "schema": []}
{"input": "In addition, the proliferation index in mammary gland carcinomas as assessed by PCNA was found to correlate with the overexpression of Cyclin H by IHC analysis (P & lt; 0. 05, Spearman Rank Order Correlation).", "output": {"entities": {"gene": [{"text": "Cyclin H", "start": 135, "end": 143}], "disease": [{"text": "carcinomas", "start": 54, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cyclin H", "start": 135, "end": 143}, "tail": {"text": "carcinomas", "start": 54, "end": 64}}]}}, "schema": []}
{"input": "The status of p53 was investigated in breast tumours arising in germ-line carriers of mutant alleles of BRCA1 and BRCA2 and in a control series of sporadic breast tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 114, "end": 119}], "disease": [{"text": "sporadic", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling Coffin-Siris syndrome (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations).", "output": {"entities": {"gene": [{"text": "PHF6", "start": 40, "end": 44}], "disease": [{"text": "skin hyperpigmentation", "start": 393, "end": 415}]}, "relations": {}}, "schema": []}
{"input": "RUNX2 mutations in cleidocranial dysplasia patients.", "output": {"entities": {"gene": [{"text": "RUNX2", "start": 0, "end": 5}], "disease": [{"text": "cleidocranial dysplasia", "start": 19, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RUNX2", "start": 0, "end": 5}, "tail": {"text": "cleidocranial dysplasia", "start": 19, "end": 42}}]}}, "schema": []}
{"input": "Bladder wet weight was measured to document the degree of hypertrophy after BOO.", "output": {"entities": {"gene": [{"text": "BOO", "start": 76, "end": 79}], "disease": [{"text": "weight", "start": 12, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the role of baicalin in ulcerative colitis (UC) with regard to the CD4 (+) CD29 (+) T helper cell, its surface markers and serum inflammatory cytokines.", "output": {"entities": {"gene": [{"text": "CD4", "start": 79, "end": 82}], "disease": [{"text": "ulcerative colitis", "start": 36, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In this review, we describe major clinically relevant genetic and epigenetic abnormalities in GBM-such as mutations in IDH1/2, EGFR, PDGFRA, and NF1 genes-altered methylation of MGMT gene promoter, and mutations in hTERT promoter.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 133, "end": 139}], "disease": [{"text": "abnormalities", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome.", "output": {"entities": {"gene": [{"text": "MLL2", "start": 77, "end": 81}], "disease": [{"text": "Kabuki syndrome", "start": 207, "end": 222}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLL2", "start": 77, "end": 81}, "tail": {"text": "Kabuki syndrome", "start": 207, "end": 222}}]}}, "schema": []}
{"input": "Most (73. 3%) of the BRCA1-associated lesions were classified as BI-RADS category 4, whereas most of the sporadic and BRCA2-associated lesions were classified as BI-RADS category 5 (66. 2% and 72. 2%).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 118, "end": 123}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "It was suggested that the CYP2A6 * 4C allele may prevent the carrier from smoking, and being a CYP2A6 * 1A/* 1B heterozygote and the CCK T allele may be risk factors for developing smoking behavior.", "output": {"entities": {"gene": [{"text": "CCK", "start": 133, "end": 136}], "disease": [{"text": "smoking", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Re-expression of RASSF1A by 5-Aza-CdR induced demethylation of the promoter region in human biliary tract carcinoma cells.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 17, "end": 24}], "disease": [{"text": "biliary tract carcinoma", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "If dysregulated, the composition of the SPCA1 isoform pool could diverge from the physiological status, affecting cytosolic Ca2 +-signaling, and in turn perturbing cell division, leading to cell death or to neoplastic transformation.", "output": {"entities": {"gene": [{"text": "SPCA1", "start": 40, "end": 45}], "disease": [{"text": "neoplastic transformation", "start": 207, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Among many published studies of specific IgE response or atopy, only a few showed positive marginal effects for 6 potentially functional single nucleotide polymorphisms (SNPs; C-590T in the IL4 gene, C-1055T and Arg130Gln in the IL13 gene, and Ile50Val, Ser478Pro, and Gln551Arg in the IL4RA gene).", "output": {"entities": {"gene": [{"text": "IL13 gene", "start": 229, "end": 238}], "disease": [{"text": "atopy", "start": 57, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "While region-specific changes in the expression of most NMDAR subunits have been reported in schizophrenia, possible abnormalities of NR3A expression have not been investigated.", "output": {"entities": {"gene": [{"text": "NR3A", "start": 134, "end": 138}], "disease": [{"text": "abnormalities", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The PLS patients had, next to the absence of cathepsin C activity in polymorphonuclear leukocytes (PMNs), no activity of the three serine proteinases elastase, cathepsin G and proteinase 3.", "output": {"entities": {"gene": [{"text": "cathepsin C", "start": 45, "end": 56}], "disease": [{"text": "PLS", "start": 4, "end": 7}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cathepsin C", "start": 45, "end": 56}, "tail": {"text": "PLS", "start": 4, "end": 7}}]}}, "schema": []}
{"input": "In multivariate analysis, melanoma AIM1 methylation status was a significant prognostic factor of OS (P = 0. 032).", "output": {"entities": {"gene": [{"text": "AIM1", "start": 35, "end": 39}], "disease": [{"text": "melanoma", "start": 26, "end": 34}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AIM1", "start": 35, "end": 39}, "tail": {"text": "melanoma", "start": 26, "end": 34}}]}}, "schema": []}
{"input": "In summary, HDMX exhibits bona fide oncogenic properties and offers a promising molecular target for GBM therapeutic intervention.", "output": {"entities": {"gene": [{"text": "HDMX", "start": 12, "end": 16}], "disease": [{"text": "GBM", "start": 101, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDMX", "start": 12, "end": 16}, "tail": {"text": "GBM", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "Targeting of the statin-binding site of LFA-1 could be used to treat diseases such as psoriasis, rheumatoid arthritis, ischemia/reperfusion injury and transplant rejection.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 40, "end": 45}], "disease": [{"text": "transplant rejection", "start": 151, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Therefore, JAK2 inhibitors, by virtue of their near equipotent activity against wild-type JAK2 that is important for normal hematopoiesis, may have adverse myelosuppression as an expected side effect, if administered at doses that aim to completely inhibit the mutant JAK2 enzyme.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 11, "end": 15}], "disease": [{"text": "myelosuppression", "start": 156, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Predicted 10-year HCC risk ranged from 1. 7% to 96% depending on the risk group and the extent of fibrosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 18, "end": 21}], "disease": [{"text": "fibrosis", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We herein provide the first evidence supporting the critical involvement of the SKP2-p27 (KIP1) axis in sulforaphane-induced antiproliferation in various human colon adenocarcinoma cell lines.", "output": {"entities": {"gene": [{"text": "KIP1", "start": 90, "end": 94}], "disease": [{"text": "colon adenocarcinoma", "start": 160, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The presence of mRNA coding for HPRT, IL-6, IL-1beta, IL-8, and TNFalpha was investigated in 20 vitreous and subretinal fluid (SRF) samples from patients with PVR by reverse transcriptase polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "HPRT", "start": 32, "end": 36}], "disease": [{"text": "subretinal fluid", "start": 109, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 23, "end": 28}], "disease": [{"text": "hypochondroplasia", "start": 83, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 23, "end": 28}, "tail": {"text": "hypochondroplasia", "start": 83, "end": 100}}]}}, "schema": []}
{"input": "CSF miR-16 is decreased in major depression patients and its neutralization in rats induces depression-like behaviors via a serotonin transmitter system.", "output": {"entities": {"gene": [{"text": "miR-16", "start": 4, "end": 10}], "disease": [{"text": "major depression", "start": 27, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-16", "start": 4, "end": 10}, "tail": {"text": "major depression", "start": 27, "end": 43}}]}}, "schema": []}
{"input": "Using a reverse-transcriptase PCR, the expression of IL-10 and IFN-gamma in cells from lymph and from blister fluid was examined.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 53, "end": 58}], "disease": [{"text": "blister", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The most important causal gene for classical PDB is Sequestosome 1 (SQSTM1), which is a scaffold protein in the NF-kappaB signalling pathway, and mutations affecting the UBA (ubiquitin-associated) domain of this protein occur in between 20-50% of familial and 10-20% of sporadic PDB cases.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 112, "end": 121}], "disease": [{"text": "sporadic", "start": 270, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "We conclude that NKCC1 influences blood pressure through effects on smooth muscle tone in resistance vessels and that this effect is augmented in hypertension.", "output": {"entities": {"gene": [{"text": "NKCC1", "start": 17, "end": 22}], "disease": [{"text": "hypertension", "start": 146, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NKCC1", "start": 17, "end": 22}, "tail": {"text": "hypertension", "start": 146, "end": 158}}]}}, "schema": []}
{"input": "There was no relationship between XRCC1 and HPV16-related HNSCC, regardless of smoking.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 34, "end": 39}], "disease": [{"text": "smoking", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Importantly, we found that the effects of CD40L can be transmitted between HUVECs and monocytic THP1 cells through intercellular CD40-CD40L interaction and these processes are augmented under hypoxia.", "output": {"entities": {"gene": [{"text": "CD40", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 192, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Using the MSP assay, we examined the methylation status of IGFBP-3 in gastric cancer (GC), colorectal cancer (CRC), breast cancer (BC) and malignant mesothelioma (MM).", "output": {"entities": {"gene": [{"text": "MSP", "start": 10, "end": 13}], "disease": [{"text": "mesothelioma", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "During both permanent and transient myocardial ischemia, Trem-1 blockade also ameliorates cardiac function and limits ventricular remodeling as assessed by fluorodeoxyglucose-positron emission tomographic imaging and conductance catheter studies (n = 9-18 per group).", "output": {"entities": {"gene": [{"text": "Trem-1", "start": 57, "end": 63}], "disease": [{"text": "ventricular remodeling", "start": 118, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "PIK3CA mutations occur at high frequency in primary and metastatic breast cancer; these may not necessarily confer increased aggressiveness as mutants had a longer time to recurrence.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 0, "end": 6}], "disease": [{"text": "aggressiveness", "start": 125, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.", "output": {"entities": {"gene": [{"text": "EPG5", "start": 26, "end": 30}], "disease": [{"text": "Vici syndrome", "start": 4, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPG5", "start": 26, "end": 30}, "tail": {"text": "Vici syndrome", "start": 4, "end": 17}}]}}, "schema": []}
{"input": "Overall, our findings demonstrate that WASP has a role in orthopoxvirus infections.", "output": {"entities": {"gene": [{"text": "WASP", "start": 39, "end": 43}], "disease": [{"text": "infections", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that transient Mad2 overexpression is sufficient to cause early dyscrasia and decreased survival in a xenotransplantation osteosarcoma mouse model, and Mad2 overexpression is associated with increased invasiveness and pulmonary metastasis.", "output": {"entities": {"gene": [{"text": "Mad2", "start": 39, "end": 43}], "disease": [{"text": "pulmonary metastasis", "start": 242, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities.", "output": {"entities": {"gene": [{"text": "RPE", "start": 143, "end": 146}], "disease": [{"text": "retinal degeneration", "start": 46, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "As FANCF is localized in a hot-spot region for somatic hypermethylation (11p15), FANCF silencing might be an early step in sporadic carcinogenesis, including leukaemogenesis.", "output": {"entities": {"gene": [{"text": "FANCF", "start": 3, "end": 8}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Therefore, tRA treatment and NIS gene transfection are potential tools for the diagnosis and treatment of thyroid cancer.", "output": {"entities": {"gene": [{"text": "NIS", "start": 29, "end": 32}], "disease": [{"text": "thyroid cancer", "start": 106, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NIS", "start": 29, "end": 32}, "tail": {"text": "thyroid cancer", "start": 106, "end": 120}}]}}, "schema": []}
{"input": "Notable SPDEF protein expression was encountered in 15/19 PTPRs as compared with only 2/36 ependymal tumors, 2/19 choroid plexus tumors and 0/23 samples of other central nervous system (CNS) tumor entities.", "output": {"entities": {"gene": [{"text": "PTPRs", "start": 58, "end": 63}], "disease": [{"text": "ependymal tumors", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "A novel EWSR1-PBX1 fusion gene consisting of exons 1-8 of the 5'-end of EWSR1 and exons 5-9 of the 3'-end of PBX1 was shown to result from the translocation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 8, "end": 13}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Mutation spectrum of ATP7A, the gene defective in Menkes disease.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 21, "end": 26}], "disease": [{"text": "Menkes disease", "start": 50, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7A", "start": 21, "end": 26}, "tail": {"text": "Menkes disease", "start": 50, "end": 64}}]}}, "schema": []}
{"input": "Using a weighted regression analysis implemented in the program SCORE-Seq, we found a rare variant constellation across the entire NKAIN1-SERINC2 region that was associated with alcohol dependence in European-Americans (Fp: overall, P = 1. 8 & #215; 10 (-4); VT: overall, P = 1. 4 & #215; 10 (-4); Collapsing, P = 6. 5 & #215; 10 (-5)) and European-Australians (Fp: overall, P = 0. 028; Collapsing, P = 0. 025), but not in African-Americans, and not associated with any other disorder examined.", "output": {"entities": {"gene": [{"text": "NKAIN1", "start": 131, "end": 137}], "disease": [{"text": "alcohol dependence", "start": 178, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NKAIN1", "start": 131, "end": 137}, "tail": {"text": "alcohol dependence", "start": 178, "end": 196}}]}}, "schema": []}
{"input": "Mutations in the HSD17B3 gene cause 17betaHSD3 deficiency and result in XY sex reversal of varying degree.", "output": {"entities": {"gene": [{"text": "HSD17B3 gene", "start": 17, "end": 29}], "disease": [{"text": "sex reversal", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Signaling via RANKL into the leukemia cells stimulated their metabolic activity and induced the release of cytokines involved in AML pathophysiology.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 14, "end": 19}], "disease": [{"text": "leukemia", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The promising therapeutic targets for osteosarcoma patients include: integrin, ezrin, statin, NOTCH/HES1, matrix metalloproteinases (MMPs), m-calpain, and Src, which are involved in tumor cell invasion and metastasis; aldolase A, fructose-bisphosphate, sulfotransferase family 3A, member 1, BCL2-associated athanogene 3, heat shock protein 70 (HSP70), B-cell lymphoma 2-interacting mediator (BIM), polo-like kinase 1, hypoxia inducible factor 1, alpha subunit, minibrain-related kinase, Bcl-xl, caspase-3, midkine, high mobility group box 1 protein (HMGB1), and Beclin1, which are involved in tumor proliferation and apoptosis; met proto-oncogene (hepatocyte growth factor receptor), v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, insulin-like growth factor (IGF)-1R, fms-related tyrosine kinase 4, platelet-derived growth factor receptor, beta polypeptide, IGF-I/II, and c-kit, which are involved in tumor growth; endosialin, VEGF, thrombin, and MMPs, which are involved in tumor angiogenesis; transforming growth factor-α/β, parathyroid hormone-like hormone, interleukin-6, interleukin-11, receptor activator of nuclear factor-κB ligand, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1, and cathepsin, which are involved in osteoclast function; Myc, HSP90, p-Met, p-Akt, p-STAT3, and cyclin D1, which are transcriptional factors; p-GP, hydroxysteroid (17-beta) dehydrogenase 10, HMGB1, BIM, inorganic phosphate, Bcl-2, PARP, mdm2, p21, Bax, and mitogen-activated protein kinase 1, which are involved in drug sensitivity.", "output": {"entities": {"gene": [{"text": "HES1", "start": 100, "end": 104}], "disease": [{"text": "tumor angiogenesis", "start": 987, "end": 1005}]}, "relations": {}}, "schema": []}
{"input": "These findings broaden the phenotype associated with p. R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of TPS syndrome.", "output": {"entities": {"gene": [{"text": "MYH8", "start": 95, "end": 99}], "disease": [{"text": "TPS", "start": 149, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH8", "start": 95, "end": 99}, "tail": {"text": "TPS", "start": 149, "end": 152}}]}}, "schema": []}
{"input": "Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).", "output": {"entities": {"gene": [{"text": "PTEN", "start": 424, "end": 428}], "disease": [{"text": "HBOC", "start": 56, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 424, "end": 428}, "tail": {"text": "HBOC", "start": 56, "end": 60}}]}}, "schema": []}
{"input": "In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 114, "end": 124}], "disease": [{"text": "ovarian cystadenoma", "start": 44, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Four days after 2', 3'-dideoxycytidine administration, rats had developed thermal allodynia as well as mechanical hyperalgesia and allodynia, which dose-dependently decreased after epidural injection of MDL 11, 939, a 5-HT2A receptor antagonist.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 218, "end": 224}], "disease": [{"text": "thermal allodynia", "start": 74, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2A", "start": 218, "end": 224}, "tail": {"text": "thermal allodynia", "start": 74, "end": 91}}]}}, "schema": []}
{"input": "In contrast, the VEGF-GL mice, which were crossed with mouse mammary tumor virus-polyoma virus middle T antigen transgenic mammary tumor mice, exhibited prominent bioluminescence in the tumors, correlating with VEGF transcription.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 17, "end": 21}], "disease": [{"text": "mammary tumor", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that fosB gene products have a potential to regulate mood disorder-related behaviors.", "output": {"entities": {"gene": [{"text": "fosB", "start": 24, "end": 28}], "disease": [{"text": "mood disorder", "start": 72, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fosB", "start": 24, "end": 28}, "tail": {"text": "mood disorder", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "Percentages of CD4 (+) Foxp3 (+) lymphocytes were compared for patients with inactive vs active disease, systemic vs ocular diagnoses, and the presence or absence of cystoid macular edema.", "output": {"entities": {"gene": [{"text": "CD4", "start": 15, "end": 18}], "disease": [{"text": "cystoid macular edema", "start": 166, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Analysis of mutant HARP proteins suggests that SIOD is caused by a deficiency in annealing helicase activity.", "output": {"entities": {"gene": [{"text": "HARP", "start": 19, "end": 23}], "disease": [{"text": "SIOD", "start": 47, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HARP", "start": 19, "end": 23}, "tail": {"text": "SIOD", "start": 47, "end": 51}}]}}, "schema": []}
{"input": "ITIM-KIR expression by PB NK cells was significantly and similarly greater than ITAM-KIR expression in women with and without endometriosis.", "output": {"entities": {"gene": [{"text": "KIR", "start": 5, "end": 8}], "disease": [{"text": "endometriosis", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, HoxD10 expression in highly invasive breast cancer cells resulted in an increased miR-7 expression but reduced Pak1 3'-UTR-luciferase activity and reduced Pak1 protein.", "output": {"entities": {"gene": [{"text": "miR-7", "start": 95, "end": 100}], "disease": [{"text": "invasive breast cancer", "start": 41, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "DARPP-32 (dopamine and adenosine 3', 5'-monophosphate-regulated phosphoprotein, 32 kDa) is an important component of dopaminergic function in brain areas thought to be important for drug and alcohol addiction.", "output": {"entities": {"gene": [{"text": "DARPP-32", "start": 0, "end": 8}], "disease": [{"text": "alcohol addiction", "start": 191, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DARPP-32", "start": 0, "end": 8}, "tail": {"text": "alcohol addiction", "start": 191, "end": 208}}]}}, "schema": []}
{"input": "We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene.", "output": {"entities": {"gene": [{"text": "CYLD", "start": 131, "end": 135}], "disease": [{"text": "MFT", "start": 82, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYLD", "start": 131, "end": 135}, "tail": {"text": "MFT", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "CASPASE-1 mRNA and the proportion of T (h) 1 transcripts (TBX21/CD3 & #603;) were significantly higher in AT from obese compared with lean subjects.", "output": {"entities": {"gene": [{"text": "CASPASE-1", "start": 0, "end": 9}], "disease": [{"text": "obese", "start": 114, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASPASE-1", "start": 0, "end": 9}, "tail": {"text": "obese", "start": 114, "end": 119}}]}}, "schema": []}
{"input": "Our results indicate that the polymorphisms at C-509T and T869C of the TGF-beta (1) gene are associated with asthma susceptibility in atopic subjects of the Hong Kong Chinese population, and the C-509T polymorphism may play a role in the pathogenesis of airflow obstruction.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 71, "end": 79}], "disease": [{"text": "asthma susceptibility", "start": 109, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Sixty-five stroke patients with a history of heavy drinking (HDS) and 83 stroke patients without such a history (NHDS) were recruited for analysis of the ADH1B and ALDH2 genotypes from the stroke registry in the Tri-Service General Hospital, Taipei, Taiwan, between January 2000 and December 2001.", "output": {"entities": {"gene": [{"text": "HDS", "start": 61, "end": 64}], "disease": [{"text": "stroke", "start": 11, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Immunopathological and chemokine analysis during the acute phase revealed that there were marked macrophage infiltration with myocyte necrosis and up-regulation of MCP-1 and IFN-gamma-inducible protein-10 (IP-10).", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 164, "end": 169}], "disease": [{"text": "necrosis", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Plasma insulin and glucose concentrations and indices of insulin secretion (IGI) and sensitivity (ISI) were measured using an oral glucose tolerance test (OGTT) in 387 obese children aged 12 +/-0. 1 yr with a mean body mass index (BMI) of 30. 6 kg/m (2) (161% of the normal mean).", "output": {"entities": {"gene": [{"text": "IGI", "start": 76, "end": 79}], "disease": [{"text": "obese", "start": 168, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We identified 113 candidate genes for congenital heart defects within these CNVs, including BTRC, CHRNB3, CSRP2BP, ERBB2, ERMARD, GLIS3, PLN, PTPRJ, RLN3, and TCTE3.", "output": {"entities": {"gene": [{"text": "CSRP2BP", "start": 106, "end": 113}], "disease": [{"text": "congenital heart defects", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Our findings extend the spectrum of phenotypes/syndromes resulting from biallelic TMEM67 variants to now eight distinguishable clinical conditions including RHYNS syndrome.", "output": {"entities": {"gene": [{"text": "TMEM67", "start": 82, "end": 88}], "disease": [{"text": "RHYNS syndrome", "start": 157, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM67", "start": 82, "end": 88}, "tail": {"text": "RHYNS syndrome", "start": 157, "end": 171}}]}}, "schema": []}
{"input": "The expression of IP-10 mRNA correlated with lobular necroinflammatory activity but not with inflammation or fibrosis in the portal tracts.", "output": {"entities": {"gene": [{"text": "IP-10", "start": 18, "end": 23}], "disease": [{"text": "fibrosis", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "IDO expression was observed in some macrophages of the tumor stroma of nasopharyngeal carcinoma (NPC) tissue, and IDO could be induced in Epstein-Barr virus (EBV)-infected human monocyte-derived macrophages (MDMs).", "output": {"entities": {"gene": [{"text": "IDO", "start": 0, "end": 3}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 71, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Here, we report the translocation, t (6; 14) (p22; q32), involving IGH @as a novel recurrent translocation in 13 BCP-ALL patients.", "output": {"entities": {"gene": [{"text": "BCP", "start": 113, "end": 116}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we have demonstrated a clear dissociation of the effects of E2 and EGF on IGF-I expression in this cell line.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 87, "end": 92}], "disease": [{"text": "dissociation", "start": 42, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The objective of the present study was to investigate the effects of heat stimulation and glutamine (Gln) on the expression of extracellular matrix genes and heat shock protein 70 (HSP70) in rat articular cartilage in vivo and to determine whether HSP70 expression achieved with a combination of microwave (MW) and Gln suppresses osteoarthritis (OA) progression in a rat OA model.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 181, "end": 186}], "disease": [{"text": "shock", "start": 163, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Thus, our results suggest that various ocular tissues up-regulate the expression of Crry and CD59 to avoid self-injury during autoimmune uveitis and that these CRPs play an active role in the resolution of EAAU by down-regulating complement activation in vivo.", "output": {"entities": {"gene": [{"text": "CD59", "start": 93, "end": 97}], "disease": [{"text": "self-injury", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Contrary to what observed for public anti-Melan-A T-cell receptor alpha motifs, which had been identified in several clonotypes of both melanoma patients and healthy controls, the unexpectedly high contribution of a public TRB motif in the recognition of a dominant melanoma epitope in melanoma patients may provide important information about the biology of anti-tumor T-cell responses and improve monitoring strategies of anti-tumor vaccines.", "output": {"entities": {"gene": [{"text": "TRB", "start": 223, "end": 226}], "disease": [{"text": "melanoma", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the results indicate that autophagy regulating gene, beclin1, can be a potential target for lung cancer gene therapy.", "output": {"entities": {"gene": [{"text": "beclin1", "start": 69, "end": 76}], "disease": [{"text": "lung cancer", "start": 108, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "beclin1", "start": 69, "end": 76}, "tail": {"text": "lung cancer", "start": 108, "end": 119}}]}}, "schema": []}
{"input": "Although both SCCRO and PIK3CA may play a role in the pathogenesis of oral tongue SCC through amplification at 3q26, SCCRO appears to be a significant predictor of regional metastasis and may be a marker for tumor aggressiveness and clinical outcome.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 24, "end": 30}], "disease": [{"text": "aggressiveness", "start": 214, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "In benign soft-tissue tumors, 1 chemodectoma and 1 neurothekeoma showed low MRP expression; however, no case showed co-expression of MRP and MDR1.", "output": {"entities": {"gene": [{"text": "MRP", "start": 76, "end": 79}], "disease": [{"text": "neurothekeoma", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "These fatal consequences of Stra6 deficiency, including craniofacial and cardiac defects and microphthalmia, were largely alleviated by reducing embryonic Rbp4 levels by morpholino oligonucleotide or pharmacological treatments.", "output": {"entities": {"gene": [{"text": "Rbp4", "start": 155, "end": 159}], "disease": [{"text": "microphthalmia", "start": 93, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we studied the induction of Th1 (TNF-alpha, IFN-gamma, IL-1beta and IL-2), Th2 (IL-4), IL-10 cytokines and adhesion molecule sICAM-1 in the lymphocytes isolated from symptomatic and asymptomatic NCC cases by stimulating them with Taenia solium cyst fluid antigens.", "output": {"entities": {"gene": [{"text": "NCC", "start": 206, "end": 209}], "disease": [{"text": "asymptomatic", "start": 193, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Histological inflammation was scored, and HNE, elafin, and SLPI were localized and semiquantified by immunostaining in 51 colonic paraffin sections (23 CD, 11 UC, 17 controls).", "output": {"entities": {"gene": [{"text": "elafin", "start": 47, "end": 53}], "disease": [{"text": "inflammation", "start": 13, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "No correlation was found between the ERα methylation and age and menopausal status, while it was significantly associated with lymph node metastasis, tumor stage, nuclear p53 accumulation, and BRCA-1 and BRCA-2 expression in sporadic BLBC.", "output": {"entities": {"gene": [{"text": "p53", "start": 171, "end": 174}], "disease": [{"text": "sporadic", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, 14-3-3ζ bound to the p85 regulatory subunit of PI3K and increased PI3K translocation to the cell membrane.", "output": {"entities": {"gene": [{"text": "p85", "start": 38, "end": 41}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "POLG mutations cause a potentially painful, axonal/mixed, mainly sensory polyneuropathy; TYMP mutations lead to a demyelinating sensory-motor polyneuropathy; SURF1 mutations are associated with a demyelinating/mixed sensory-motor polyneuropathy.", "output": {"entities": {"gene": [{"text": "POLG", "start": 0, "end": 4}], "disease": [{"text": "painful", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "¹⁸F-FDG uptake on PET is a predictive marker of thymidylate synthase expression in patients with thoracic neoplasms.", "output": {"entities": {"gene": [{"text": "FDG", "start": 4, "end": 7}], "disease": [{"text": "thoracic neoplasms", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.", "output": {"entities": {"gene": [{"text": "DNMT3A", "start": 17, "end": 23}], "disease": [{"text": "microcephalic", "start": 40, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT3A", "start": 17, "end": 23}, "tail": {"text": "microcephalic", "start": 40, "end": 53}}]}}, "schema": []}
{"input": "Sera of 64 CU patients (22 ASST + CU and 42 ASST-CU) and 10 healthy subjects were tested for their ability to induce basophil CD63 expression when incubated with whole blood of both atopic (DA) and non-atopic donors (DNA).", "output": {"entities": {"gene": [{"text": "CD63", "start": 126, "end": 130}], "disease": [{"text": "atopic", "start": 182, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia.", "output": {"entities": {"gene": [{"text": "CASR", "start": 57, "end": 61}], "disease": [{"text": "apathy", "start": 140, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Carpenter-Waziri syndrome results from a mutation in XNP.", "output": {"entities": {"gene": [{"text": "XNP", "start": 53, "end": 56}], "disease": [{"text": "Carpenter-Waziri syndrome", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XNP", "start": 53, "end": 56}, "tail": {"text": "Carpenter-Waziri syndrome", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "The C allele at IL-6-174 position is associated with increased insulin sensitivity, and has a protective role for the development of type 2 diabetes, in a Spanish study.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 16, "end": 20}], "disease": [{"text": "insulin sensitivity", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "On chow, hepatic PGC-1beta overexpression caused severe combined hyperlipidemia including elevated plasma apolipoprotein B levels.", "output": {"entities": {"gene": [{"text": "PGC", "start": 17, "end": 20}], "disease": [{"text": "hyperlipidemia", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "To examine whether GCS is a target for cancer therapy, we have designed and tested the effects of antisense oligodeoxyribonucleotides (ODNs) to GCS on gene expression and chemosensitivity in multidrug-resistant cancer cells.", "output": {"entities": {"gene": [{"text": "GCS", "start": 19, "end": 22}], "disease": [{"text": "resistant cancer", "start": 201, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Analysis of serial samples from individual patients with methylation positive HCC revealed that loss of p16 expression with promoter methylation occurred in 18 of 20 patients at the stage of chronic hepatitis without clinically detectable carcinoma.", "output": {"entities": {"gene": [{"text": "HCC", "start": 78, "end": 81}], "disease": [{"text": "chronic hepatitis", "start": 191, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "After adjusting for age, gender, body mass index, and polygenic correlations within pedigrees, SNP hcv1137534 was significantly associated with both systolic blood pressure and diastolic blood pressure (DBP) at baseline (unadjusted P = 0. 009 and P = 0. 043; respectively) and at 10-year follow-up (P = 0. 008 and P = 0. 007; respectively).", "output": {"entities": {"gene": [{"text": "DBP", "start": 203, "end": 206}], "disease": [{"text": "systolic blood pressure", "start": 149, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3. 44 à — 10 (-4)) than postural instability and gait difficulty (PIGD) cases (P = 6. 06 à — 10 (-2)).", "output": {"entities": {"gene": [{"text": "ARNTL", "start": 42, "end": 47}], "disease": [{"text": "postural instability", "start": 134, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Gadd45b is abnormally expressed in subjects with autism and psychosis, two disorders associated with cognitive deficits.", "output": {"entities": {"gene": [{"text": "Gadd45b", "start": 0, "end": 7}], "disease": [{"text": "psychosis", "start": 60, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gadd45b", "start": 0, "end": 7}, "tail": {"text": "psychosis", "start": 60, "end": 69}}]}}, "schema": []}
{"input": "In most cases SPD is caused by heterozygous mutations in HOXD13 resulting in the expansion of a N-terminal polyalanine tract.", "output": {"entities": {"gene": [{"text": "HOXD13", "start": 57, "end": 63}], "disease": [{"text": "SPD", "start": 14, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXD13", "start": 57, "end": 63}, "tail": {"text": "SPD", "start": 14, "end": 17}}]}}, "schema": []}
{"input": "Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.", "output": {"entities": {"gene": [{"text": "beta fibrinogen", "start": 32, "end": 47}], "disease": [{"text": "congenital afibrinogenemia", "start": 59, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta fibrinogen", "start": 32, "end": 47}, "tail": {"text": "congenital afibrinogenemia", "start": 59, "end": 85}}]}}, "schema": []}
{"input": "In further studies we show that despite the above abnormalities, CVI B cells are induced to express normal or near-normal levels of C mu, C gamma, and C alpha mRNA after 7 days of stimulation with anti-CD40 and IL-10.", "output": {"entities": {"gene": [{"text": "CD40", "start": 202, "end": 206}], "disease": [{"text": "abnormalities", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Using a mouse model for multiple sclerosis, here we show that B10-cell maturation into functional IL-10-secreting effector cells that inhibit in vivo autoimmune disease requires IL-21 and CD40-dependent cognate interactions with T cells.", "output": {"entities": {"gene": [{"text": "B10", "start": 62, "end": 65}], "disease": [{"text": "autoimmune disease", "start": 150, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In sporadic intestinal adenocarcinomas with strong p53 immunostaining (mutated TP53), ACSL5-related mortalin expression was heterogeneous.", "output": {"entities": {"gene": [{"text": "TP53", "start": 79, "end": 83}], "disease": [{"text": "sporadic", "start": 3, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Using 98 formalin-fixed, paraffin-embedded samples obtained from patients with esophageal cancer who had received preoperative chemotherapy followed by surgery, we measured expression levels of several miRNAs that are considered to be involved in the regulation of stem cell function (e. g., let-7a, let-7g, miR-21, miR-134, miR-145, miR-155, miR-200c, miR-203, and miR-296) by real-time reverse transcriptase PCR.", "output": {"entities": {"gene": [{"text": "miR-200c", "start": 343, "end": 351}], "disease": [{"text": "esophageal cancer", "start": 79, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-200c", "start": 343, "end": 351}, "tail": {"text": "esophageal cancer", "start": 79, "end": 96}}]}}, "schema": []}
{"input": "Resveratrol preconditioning protects hepatocytes against hepatic ischemia reperfusion injury via Toll-like receptor 4/nuclear factor-& #954; B signaling pathway in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 4", "start": 97, "end": 117}], "disease": [{"text": "ischemia reperfusion injury", "start": 65, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Toll-like receptor 4", "start": 97, "end": 117}, "tail": {"text": "ischemia reperfusion injury", "start": 65, "end": 92}}]}}, "schema": []}
{"input": "However, apparently normal C/EBPalpha is overexpressed in BCP-ALL harbouring the translocation t (14; 19) (q32; q13).", "output": {"entities": {"gene": [{"text": "BCP", "start": 58, "end": 61}], "disease": [{"text": "translocation", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The results of our study of Turkish prostate cancer patients suggest that mutation of the MnSOD gene may be an important risk factor for prostate cancer.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 90, "end": 95}], "disease": [{"text": "prostate cancer", "start": 36, "end": 51}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MnSOD", "start": 90, "end": 95}, "tail": {"text": "prostate cancer", "start": 36, "end": 51}}]}}, "schema": []}
{"input": "Secreted phospholipases A2 (sPLA2) are suggested to play an important role in inflammation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 28, "end": 33}], "disease": [{"text": "inflammation", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To explain these anomalies, we propose a model of RER + carcinogenesis based on the simple idea that the RER mutator phenotype has only short-term viability in normal cells.", "output": {"entities": {"gene": [{"text": "RER", "start": 50, "end": 53}], "disease": [{"text": "carcinogenesis", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In ER + cancer (n = 189), a high nuclear BAG-1 expression independently predicted improved outcome for local recurrence (P = 0. 0464), distant metastases (P = 0. 0435), death from breast cancer (P = 0. 009, hazards ratio 0. 29, 95% CI: 0. 114-0. 735) and improved outcome in tamoxifen-treated patients (n = 107; P = 0. 0191).", "output": {"entities": {"gene": [{"text": "BAG-1", "start": 41, "end": 46}], "disease": [{"text": "breast cancer", "start": 180, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAG-1", "start": 41, "end": 46}, "tail": {"text": "breast cancer", "start": 180, "end": 193}}]}}, "schema": []}
{"input": "This is the first report of a homozygous BLVRA inactivating mutation indicating that the complete absence of BVR & #945; activity is a non-lethal condition, the most evident phenotypic characteristic of which is the appearance of green jaundice accompanying cholestasis episodes.", "output": {"entities": {"gene": [{"text": "BVR", "start": 109, "end": 112}], "disease": [{"text": "green jaundice", "start": 230, "end": 244}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BVR", "start": 109, "end": 112}, "tail": {"text": "green jaundice", "start": 230, "end": 244}}]}}, "schema": []}
{"input": "Germ-line mutations in the BRCA1 tumor suppressor gene predispose to early onset breast cancers with a distinct phenotype characterized by high tumor grade, aneuploidy, high proliferation rate, and estrogen receptor-negativity.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 27, "end": 32}], "disease": [{"text": "aneuploidy", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Our findings show that abnormalities in the GHRH/GH axis underlie both growth retardation and SWS-disorder UAO.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 44, "end": 48}], "disease": [{"text": "abnormalities", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In control subjects hyperinsulinaemia caused an unchanged GFR in both groups, increased RPF in the lean control group and 15-25% reduction in sodium excretion.", "output": {"entities": {"gene": [{"text": "GFR", "start": 58, "end": 61}], "disease": [{"text": "hyperinsulinaemia", "start": 20, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "First, with the Principle Component analysis, six proteins, CYP2E1, FAM25, CA3, BHMT, HIBADH and ECHS1, involved in oxidation reduction, energy and lipid metabolism and amino acid metabolism, were identified as the most differentially expressed gene products across all of the experimental conditions of our chronic alcoholism model.", "output": {"entities": {"gene": [{"text": "ECHS1", "start": 97, "end": 102}], "disease": [{"text": "chronic alcoholism", "start": 308, "end": 326}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ECHS1", "start": 97, "end": 102}, "tail": {"text": "chronic alcoholism", "start": 308, "end": 326}}]}}, "schema": []}
{"input": "High p130cas expression was associated with advanced tumor stage (P <. 001) and higher residual disease (> 1 cm) following primary cytoreduction surgery (P =. 007) and inversely associated with overall survival and progression-free survival (median overall survival: high p130cas expression vs low expression, 2. 14 vs 9. 1 years, difference = 6. 96 years, 95% confidence interval = 1. 69 to 9. 48 years, P <. 001; median progression-free survival: high p130cas expression vs low expression, 1. 04 vs 2. 13 years, difference = 1. 09 years, 95% confidence interval = 0. 47 to 2. 60 years, P =. 01).", "output": {"entities": {"gene": [{"text": "p130cas", "start": 5, "end": 12}], "disease": [{"text": "residual disease", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Breast cancer is a rare disease in men. Germ-line mutations in BRCA2 and androgen receptor (AR) genes are thought to be responsible for a proportion of male breast cancer cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 63, "end": 68}], "disease": [{"text": "Breast cancer", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 63, "end": 68}, "tail": {"text": "Breast cancer", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "Upregulation of adhesion molecules on leukemia targets improves the efficacy of cytotoxic T cells transduced with chimeric anti-CD19 receptor.", "output": {"entities": {"gene": [{"text": "CD19", "start": 128, "end": 132}], "disease": [{"text": "adhesion", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Echocardiographic and CMR imaging signs of diastolic dysfunction with preserved systolic function were identified in 12-week-old Mypn (WT/Q526X) mice.", "output": {"entities": {"gene": [{"text": "Mypn", "start": 129, "end": 133}], "disease": [{"text": "diastolic dysfunction", "start": 43, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The TOP-PUMA adenovirus inhibited cell growth in a dose-dependent fashion, depending on the signaling activity of beta-catenin.", "output": {"entities": {"gene": [{"text": "TOP", "start": 4, "end": 7}], "disease": [{"text": "adenovirus", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550). She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography.", "output": {"entities": {"gene": [{"text": "MIM", "start": 217, "end": 220}], "disease": [{"text": "spondyloperipheral dysplasia", "start": 182, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c. 1550G & gt; A, c. 1565G & gt; A, c. 1970T & gt; C, c. 2096T & gt; C, c. 2254T & gt; A, c. 2288G & gt; C, and c. 2311C & gt; T, corresponding to p. G517E, p. G522E, p. L657P, p. I699T, p. C752S, p. C763S, and p. R771C, all of which were predicted pathogenic by in silico analysis.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 121, "end": 126}], "disease": [{"text": "HSAN IV", "start": 49, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTRK1", "start": 121, "end": 126}, "tail": {"text": "HSAN IV", "start": 49, "end": 56}}]}}, "schema": []}
{"input": "Amplification or overexpression of the HER-2/neu gene in breast cancers is associated with aggressive behavior and resistance to therapeutic regimens.", "output": {"entities": {"gene": [{"text": "neu gene", "start": 45, "end": 53}], "disease": [{"text": "aggressive behavior", "start": 91, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Together, these findings support that the reported translocation-associated phenotypes are \" cis-ruption \" and TRPS1 overexpression related, the latter most probably caused by the novel enhancer element in the TRPS1 5' region.", "output": {"entities": {"gene": [{"text": "TRPS1", "start": 111, "end": 116}], "disease": [{"text": "translocation", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Inherited diseases of excitation-contraction coupling and muscle relaxation such as malignant hyperthermia, central core disease, hypokalemic periodic paralysis or Brody disease are caused by mutations in these Ca2 +-regulatory elements.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 211, "end": 214}], "disease": [{"text": "malignant hyperthermia", "start": 84, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "It is therefore suggested that SEMA3C signaling, propagated through the heterodimer receptor plexin-D1/neuropilin, is important for truncus arteriosus septation.", "output": {"entities": {"gene": [{"text": "plexin-D1", "start": 93, "end": 102}], "disease": [{"text": "truncus arteriosus", "start": 132, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "plexin-D1", "start": 93, "end": 102}, "tail": {"text": "truncus arteriosus", "start": 132, "end": 150}}]}}, "schema": []}
{"input": "In 3 thyroid cancer cell lines (TPC1 from a papillary thyroid cancer, FTC133 from a follicular thyroid cancer, XTC1 from a Hürthle cell carcinoma), small interfering RNA knockdown of RTN4IP1 was used to determine its role in regulating the hallmarks of malignant cell phenotype (cellular proliferation, migration, apoptosis, invasion, tumor spheroid formation, anchorage independent growth).", "output": {"entities": {"gene": [{"text": "RTN4IP1", "start": 183, "end": 190}], "disease": [{"text": "carcinoma", "start": 136, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.", "output": {"entities": {"gene": [{"text": "STS", "start": 40, "end": 43}], "disease": [{"text": "insulin sensitivity", "start": 249, "end": 268}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STS", "start": 40, "end": 43}, "tail": {"text": "insulin sensitivity", "start": 249, "end": 268}}]}}, "schema": []}
{"input": "The methylenetetrahydrofolate reductase gene variant C677T influences susceptibility to migraine with aura.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase gene", "start": 4, "end": 44}], "disease": [{"text": "aura", "start": 102, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The expression patterns of two members of the Wnt pathway, Wnt5b and secreted frizzled related protein (sFRP) 1, were evaluated in myometrial SMC (n = 22) and in leiomyoma cells (n = 27) by real-time quantitative PCR.", "output": {"entities": {"gene": [{"text": "SMC", "start": 142, "end": 145}], "disease": [{"text": "leiomyoma", "start": 162, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Along with the lack of allelic loss at the PRKAR1A locus in most of the tumors from this kindred, these data suggest that alteration of PRKAR1A function (not only its complete loss) is sufficient for augmenting PKA activity leading to tumorigenesis in tissues affected by CNC.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 43, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 235, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Here, we examine intestinal metaplasia in molecular terms, noting the over-expression of Cdx1, Cdx2, Pdx1, Oct1, TFF3 and the downregulation of Hedgehog signalling; Runx3 is deactivated by epigenetic silencing, and pathways such as Wnt and MARK/ERK are involved.", "output": {"entities": {"gene": [{"text": "MARK", "start": 240, "end": 244}], "disease": [{"text": "intestinal metaplasia", "start": 17, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "[Association of Gln223Arg variant in leptin receptor gene with metabolic abnormalities and hypertension in type II diabetes mellitus in Shanghai \" Han \" population].", "output": {"entities": {"gene": [{"text": "leptin receptor gene", "start": 37, "end": 57}], "disease": [{"text": "abnormalities", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "T gene", "start": 34, "end": 40}], "disease": [{"text": "familial hypertrophic cardiomyopathy", "start": 81, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We propose to further explore an integrated program, incorporating TPO with other protocols, for treatment of DOX-induced cardiotoxicity and other forms of cardiomyopathy.", "output": {"entities": {"gene": [{"text": "TPO", "start": 67, "end": 70}], "disease": [{"text": "cardiomyopathy", "start": 156, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TPO", "start": 67, "end": 70}, "tail": {"text": "cardiomyopathy", "start": 156, "end": 170}}]}}, "schema": []}
{"input": "The present study was undertaken to carry out a methodical prospective search for the prevalence of pruritus in CJD patients and investigate its anatomical substrate by MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 169, "end": 172}], "disease": [{"text": "pruritus", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "DIO mice exhibited significant increases in body weight, plasma glucose, insulin, and insulin-like growth factor 1 (IGF1) levels and intestinal Igf1 mRNA.", "output": {"entities": {"gene": [{"text": "Igf1", "start": 144, "end": 148}], "disease": [{"text": "body weight", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "This may result from chronic apoptotic stress and provoke adaptations, including increases in UCP-2, that potentiate necrosis.", "output": {"entities": {"gene": [{"text": "UCP", "start": 94, "end": 97}], "disease": [{"text": "necrosis", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that Fox expression is altered in the lungs of the nitrofen-induced CDH rat model and investigated the expression of FoxF1, FoxC2, and FoxO1.", "output": {"entities": {"gene": [{"text": "FoxC2", "start": 140, "end": 145}], "disease": [{"text": "CDH", "start": 84, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FoxC2", "start": 140, "end": 145}, "tail": {"text": "CDH", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "We studied the expression of IDE protein in postmortem brains of patients with schizophrenia and controls because: (1) the gene encoding IDE is located on chromosome 10q23-q25, a gene locus linked to schizophrenia; (2) insulin resistance with brain insulin receptor deficits/receptor dysfunction was reported in schizophrenia; (3) the enzyme cleaves IGF-I and IGF-II which are implicated in the pathophysiology of the disease; and (4) brain gamma-endorphin levels, liberated from beta-endorphin exclusively by IDE, have been reported to be altered in schizophrenia.", "output": {"entities": {"gene": [{"text": "IDE", "start": 29, "end": 32}], "disease": [{"text": "insulin resistance", "start": 219, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 9, "end": 19}], "disease": [{"text": "peripheral pulmonary artery stenosis", "start": 69, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Possible involvement of IMPase in complex behaviors related to affective disorders was assessed by monitoring the behavior of the IMPA2 (-/-) mice in the forced swim test, the tail suspension test (TST), the elevated zero-maze and open field test.", "output": {"entities": {"gene": [{"text": "TST", "start": 198, "end": 201}], "disease": [{"text": "affective disorders", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.", "output": {"entities": {"gene": [{"text": "fumarylacetoacetate hydrolase", "start": 17, "end": 46}], "disease": [{"text": "tyrosinemia, type I", "start": 74, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fumarylacetoacetate hydrolase", "start": 17, "end": 46}, "tail": {"text": "tyrosinemia, type I", "start": 74, "end": 93}}]}}, "schema": []}
{"input": "To determine whether neurosteroidogenesis might be involved in the pivotal role played by the DH in nociception, effects of neurogenic pain provoked by sciatic nerve ligature were investigated on P450scc expression, cellular distribution, and activity in the SC.", "output": {"entities": {"gene": [{"text": "P450scc", "start": 196, "end": 203}], "disease": [{"text": "neurogenic pain", "start": 124, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I.", "output": {"entities": {"gene": [{"text": "glutaryl-CoA dehydrogenase", "start": 72, "end": 98}], "disease": [{"text": "glutaric acidemia type I", "start": 167, "end": 191}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glutaryl-CoA dehydrogenase", "start": 72, "end": 98}, "tail": {"text": "glutaric acidemia type I", "start": 167, "end": 191}}]}}, "schema": []}
{"input": "We found that the mRNA expression of TLR3 and TLR4 was significantly increased in DLPFC of depressed suicide victims and in depressed non-suicide subjects, compared with controls.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 46, "end": 50}], "disease": [{"text": "suicide", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "NF-κB-induced IL-6 ensures STAT3 activation and tumor aggressiveness in glioblastoma.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 14, "end": 18}], "disease": [{"text": "aggressiveness", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The present study demonstrated for the first time the potential antitumor activity of IFN-α combined with the oncolytic adenovirus SG600-IL-24 in HCC both in vitro and in vivo, and suggests its further development as a potential candidate for HCC cancer gene therapy.", "output": {"entities": {"gene": [{"text": "HCC", "start": 146, "end": 149}], "disease": [{"text": "adenovirus", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Considering neoplastic tissues, loss of nuclear p33 (ING1b) was observed in melanoma, seminoma, papillary thyroid carcinoma, ductal breast carcinoma, and acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "p33", "start": 48, "end": 51}], "disease": [{"text": "papillary thyroid carcinoma", "start": 96, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "25 SNPs in the SCNN1A, SCNN1B, SCNN1G, NEDD4L, NDFIP2, and USP2 loci were found to be associated with blood pressure.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 39, "end": 45}], "disease": [{"text": "blood pressure", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "A combination of ITPA genetic polymorphisms with baseline Hb and CLcr levels further improves the predictive accuracy of severe anaemia.", "output": {"entities": {"gene": [{"text": "CLcr", "start": 65, "end": 69}], "disease": [{"text": "anaemia", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In 45 primary ovarian carcinoma samples where both components of the IL-11 receptor (IL-11Ralpha and gp130) were examined, coexpression was observed in 42 (93. 3%).", "output": {"entities": {"gene": [{"text": "IL-11Ralpha", "start": 85, "end": 96}], "disease": [{"text": "ovarian carcinoma", "start": 14, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-11Ralpha", "start": 85, "end": 96}, "tail": {"text": "ovarian carcinoma", "start": 14, "end": 31}}]}}, "schema": []}
{"input": "Unlike other chromosomal translocations, which are usually specific for a given lineage, the chromosomal translocation t (12; 13) (p12; q14) has been observed in both B-cell and T-cell precursor acute lymphoblastic leukemia (BCP-, TCP-ALL), in differentiated and undifferentiated acute myeloblastic leukemia (AML), and in chronic myeloid leukemia (CML) at progression to blast crisis.", "output": {"entities": {"gene": [{"text": "BCP", "start": 225, "end": 228}], "disease": [{"text": "chromosomal translocation", "start": 13, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "HMW-HA triggers hypersensitivity of naked mole rat cells to contact inhibition, which is associated with induction of the INK4 (inhibitors of cyclin dependent kinase 4) locus leading to cell-cycle arrest.", "output": {"entities": {"gene": [{"text": "INK4", "start": 122, "end": 126}], "disease": [{"text": "hypersensitivity", "start": 16, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found in humans that hepcidin levels correlated with hepatic iron stores and hemoglobin levels and may also be affected by hepatic dysfunction.", "output": {"entities": {"gene": [{"text": "hepcidin", "start": 34, "end": 42}], "disease": [{"text": "hepatic dysfunction", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We conducted data-mining analyses of genome wide association (GWA) studies of the CATIE and MGS-GAIN datasets, and found 13 markers in the two physically linked genes, PTPN21 and EML5, showing nominally significant association with schizophrenia.", "output": {"entities": {"gene": [{"text": "EML5", "start": 179, "end": 183}], "disease": [{"text": "schizophrenia", "start": 232, "end": 245}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EML5", "start": 179, "end": 183}, "tail": {"text": "schizophrenia", "start": 232, "end": 245}}]}}, "schema": []}
{"input": "In conclusion, activation of STAT1 attenuates liver fibrosis through inhibition of HSC proliferation, attenuation of TGF-beta signaling, and stimulation of NK cell killing of activated HSCs.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 29, "end": 34}], "disease": [{"text": "liver fibrosis", "start": 46, "end": 60}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STAT1", "start": 29, "end": 34}, "tail": {"text": "liver fibrosis", "start": 46, "end": 60}}]}}, "schema": []}
{"input": "We studied the associations of polymorphism of ADRB3 and PPARγ2 genes with obesity indices, unfavorable lipid profile parameters and insulin resistance index HOMA in 343 postmenopausal women.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 47, "end": 52}], "disease": [{"text": "insulin resistance", "start": 133, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that HIG2 also upregulated HIF-1α expression under hypoxic conditions and enhanced AP-1 expression under normoxic conditions, which affects colorectal cancer cell survival.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 97, "end": 101}], "disease": [{"text": "hypoxic", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The expression and deacetylase activity of SIRT6 were measured in vivo, using the abdominal aortic constriction (AAC) model of cardiac hypertrophy in rats.", "output": {"entities": {"gene": [{"text": "SIRT6", "start": 43, "end": 48}], "disease": [{"text": "cardiac hypertrophy", "start": 127, "end": 146}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT6", "start": 43, "end": 48}, "tail": {"text": "cardiac hypertrophy", "start": 127, "end": 146}}]}}, "schema": []}
{"input": "Blockade of Cyp-D by siRNA-mediated depletion or pharmacological inhibitors (cyclosporin A and sanglifehrin A) significantly suppressed salinomycin-induced glioma cell necrosis.", "output": {"entities": {"gene": [{"text": "Cyp-D", "start": 12, "end": 17}], "disease": [{"text": "necrosis", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Acquired C1 inhibitor (C1-INH) deficiency exposes patients to angioedema recurrences (acquired angioedema [AAE]) mediated by bradykinin pathway activation.", "output": {"entities": {"gene": [{"text": "C1 inhibitor", "start": 9, "end": 21}], "disease": [{"text": "acquired angioedema", "start": 86, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "C1 inhibitor", "start": 9, "end": 21}, "tail": {"text": "acquired angioedema", "start": 86, "end": 105}}]}}, "schema": []}
{"input": "Results suggested that MTHFR C677T polymorphism was associated with significantly increased risk of MTX-induced toxicity, specifically liver toxicity (TT/CT vs. CC: odds ratio (OR) = 1. 70, 95% confidence interval (CI) = 1. 05-2. 75), myelosuppression (TT vs. CT/CC: OR = 2. 82, 95% CI = 1. 25-6. 34), oral mucositis (TT/CT vs. CC: OR = 3. 68, 95% CI = 1. 73-7. 85), gastrointestinal toxicity (TT/CT vs. CC: OR = 2. 36, 95% CI = 1. 36-4. 11), and skin toxicity (T vs. C: OR = 2. 26, 95% CI = 1. 07-4. 74).", "output": {"entities": {"gene": [{"text": "MTX", "start": 100, "end": 103}], "disease": [{"text": "myelosuppression", "start": 235, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Recent discoveries find that the PAX2 gene is pivotal in kidney development and it is implicated in the pathogenesis of renal interstitial fibrosis (RIF) and glomerulosclerosis (GS).", "output": {"entities": {"gene": [{"text": "PAX2 gene", "start": 33, "end": 42}], "disease": [{"text": "glomerulosclerosis", "start": 158, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Small amounts of progerin are also produced during normal aging.", "output": {"entities": {"gene": [{"text": "progerin", "start": 17, "end": 25}], "disease": [{"text": "aging", "start": 58, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that mice lacking Six1 die at birth due to thoracic skeletal defects and severe muscle hypoplasia affecting most of the body muscles.", "output": {"entities": {"gene": [{"text": "Six1", "start": 43, "end": 47}], "disease": [{"text": "thoracic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "A child with a mild form of pseudoachondroplasia was heterozygous for a deletion of 12 nucleotides from exon 10 of the cartilage oligomeric matrix protein (COMP) gene.", "output": {"entities": {"gene": [{"text": "COMP", "start": 156, "end": 160}], "disease": [{"text": "mild", "start": 15, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "These results strongly suggest that EGF and/or TGF-alpha produced by carcinoma cells function as autocrine growth factors for human esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "EGF", "start": 36, "end": 39}], "disease": [{"text": "esophageal", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Wegener' s granulomatosis (WG) is characterized by systemic vasculitis with crescentic glomerulonephritis (CGN) and circulating autoantibodies directed against neutrophil cytoplasmic antigens (ANCA).", "output": {"entities": {"gene": [{"text": "CGN", "start": 107, "end": 110}], "disease": [{"text": "crescentic glomerulonephritis", "start": 76, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p & lt; 0. 0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p & lt; 0. 005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%).", "output": {"entities": {"gene": [{"text": "histatin 1", "start": 84, "end": 94}], "disease": [{"text": "autistic", "start": 239, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "histatin 1", "start": 84, "end": 94}, "tail": {"text": "autistic", "start": 239, "end": 247}}]}}, "schema": []}
{"input": "As a component of an ongoing extensive study of the epidemiology of childhood brain tumors, we prospectively examined the germline and tumor p53 gene status in 85 children without a family history of cancer who were diagnosed with a sporadic malignant central nervous system tumor.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 141, "end": 149}], "disease": [{"text": "sporadic", "start": 233, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "However, the effect of CETP single-nucleotide polymorphisms on systolic blood pressure (0. 16 mm Hg, 95% CI-0. 28 to 0. 60 mm Hg) and diastolic blood pressure (-0. 04 mm Hg, 95% CI-0. 36 to 0. 28 mm Hg) was null and significantly different from that expected of 10 mg of torcetrapib.", "output": {"entities": {"gene": [{"text": "CETP", "start": 23, "end": 27}], "disease": [{"text": "diastolic blood pressure", "start": 134, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the involvement of mitogen-and stress-activated protein kinases during apoptosis of A549 lung cancer cells infected with adenovirus expressing eIF5A1 or a mutant of eIF5A1 that cannot be hypusinated (eIF5A1K50A).", "output": {"entities": {"gene": [{"text": "eIF5A1", "start": 181, "end": 187}], "disease": [{"text": "lung cancer", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "It is concluded that expression of L-selectin gene was down-regulated in level of mRNA and protein in acute leukemia patients and both changes were highly correlated.", "output": {"entities": {"gene": [{"text": "L-selectin", "start": 35, "end": 45}], "disease": [{"text": "acute leukemia", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The mean levels of atherogenic lipids (total cholesterol [TC], triacylglycerol [TG] and LDL cholesterol [LDL-C]), acute-phase reactants (CRP, ESR, PMNLs, ceruloplasmin and fibrinogen) and lipid peroxidation products, AuAb-oxLDL levels in patients with psoriasis were found to be significantly higher than those of healthy subjects.", "output": {"entities": {"gene": [{"text": "ceruloplasmin", "start": 154, "end": 167}], "disease": [{"text": "psoriasis", "start": 252, "end": 261}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ceruloplasmin", "start": 154, "end": 167}, "tail": {"text": "psoriasis", "start": 252, "end": 261}}]}}, "schema": []}
{"input": "Our studies demonstrate that the Foxm1b transcription factor is required for proliferative expansion during tumor progression and constitutes a potential new target for therapy of human HCC tumors.", "output": {"entities": {"gene": [{"text": "Foxm1b", "start": 33, "end": 39}], "disease": [{"text": "HCC", "start": 186, "end": 189}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Foxm1b", "start": 33, "end": 39}, "tail": {"text": "HCC", "start": 186, "end": 189}}]}}, "schema": []}
{"input": "Transcription factor Ets-1 mediates ischemia-and vascular endothelial growth factor-dependent retinal neovascularization.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 21, "end": 26}], "disease": [{"text": "retinal neovascularization", "start": 94, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We report herein a rare case of a t (1; 8) (q25; p11. 2) with a TPR-FGFR1 rearrangement, in which the patient presented with myeloproliferative neoplasm-like symptoms and T-lymphoblastic lymphoma.", "output": {"entities": {"gene": [{"text": "p11", "start": 49, "end": 52}], "disease": [{"text": "myeloproliferative neoplasm", "start": 125, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We retrospectively analysed laboratory and clinical findings of 106 consecutive patients with ET to evaluate possible relationships between thrombosis, abnormal bleeding, peripheral blood count, overexpression of PRV1 and JAK2 (V617F) mutational status.", "output": {"entities": {"gene": [{"text": "PRV1", "start": 213, "end": 217}], "disease": [{"text": "abnormal bleeding", "start": 152, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness.", "output": {"entities": {"gene": [{"text": "ESPN", "start": 50, "end": 54}], "disease": [{"text": "deafness", "start": 155, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ESPN", "start": 50, "end": 54}, "tail": {"text": "deafness", "start": 155, "end": 163}}]}}, "schema": []}
{"input": "CONCLUSIONS: Heparanase is upregulated and associated with the VEGF expression in hypoxia-induced retinal diseases.", "output": {"entities": {"gene": [{"text": "Heparanase", "start": 13, "end": 23}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 33, "end": 38}], "disease": [{"text": "TBCD", "start": 64, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBI", "start": 33, "end": 38}, "tail": {"text": "TBCD", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "It is possible that GATA3 mutations occur earlier in the evolution of BRCAx tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination.", "output": {"entities": {"gene": [{"text": "GATA3", "start": 20, "end": 25}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study is to investigate the roles of AMs response-related genes TNF-alpha, iNOS, and NRAMP1 (SLC11A1) in susceptibility to silicosis and pulmonary tuberculosis (PTB), and to analyze the interaction of dust exposure and genetic susceptibility to silicosis, interactions of TNF-alpha-308 and Natural Resistance-associated Macrophage Protein 1 (NRAMP1) INT4, D543N polymorphisms to PTB.", "output": {"entities": {"gene": [{"text": "PTB", "start": 177, "end": 180}], "disease": [{"text": "silicosis", "start": 139, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "MIF expression in gastric cancer cell lines was detected by reverse transcription-polymerase chain reaction (RT-PCR) and Western blot.", "output": {"entities": {"gene": [{"text": "MIF", "start": 0, "end": 3}], "disease": [{"text": "gastric cancer", "start": 18, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data indicate that RanBP9-N60 may further drive the amyloid cascade in AD and that the proteolytic processing of RanBP9 may be an attractive therapeutic target.", "output": {"entities": {"gene": [{"text": "RanBP9", "start": 41, "end": 47}], "disease": [{"text": "amyloid", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "CT brain revealed diffuse subarachnoid haemorrhage (SAH) and cerebral angiogram subsequently confirmed vertebral artery aneurysm rupture leading to SAH.", "output": {"entities": {"gene": [{"text": "SAH", "start": 52, "end": 55}], "disease": [{"text": "vertebral artery aneurysm", "start": 103, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Complete loss of HtrA2 has been shown to cause neurodegeneration in mice.", "output": {"entities": {"gene": [{"text": "HtrA2", "start": 17, "end": 22}], "disease": [{"text": "neurodegeneration", "start": 47, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Human esophageal and gastric carcinomas express multi-autocrine growth factors and hormones including epidermal growth factor (EGF), transforming growth factor (TGF)-alpha and beta, platelet-derived growth factor (PDGF), insulin-like growth factor (IGF) and sex hormones.", "output": {"entities": {"gene": [{"text": "EGF", "start": 127, "end": 130}], "disease": [{"text": "esophageal", "start": 6, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "We studied body fat distribution in two male and two female patients with MAD by anthropometry, dual energy x-ray absorptiometry, and magnetic resonance imaging.", "output": {"entities": {"gene": [{"text": "MAD", "start": 74, "end": 77}], "disease": [{"text": "body fat distribution", "start": 11, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Between low-grade and high-grade dysplastic adenomas, 65 classifier probesets such as aquaporin 1, CXCL10, and APOD (90. 91/100) were identified; between colorectal cancer and adenoma, 61 classifier probesets including axin 2, von Willebrand factor, tensin 1, and gremlin 1 (90. 91/100) were identified.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 227, "end": 248}], "disease": [{"text": "adenoma", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The effects of ES (0. 3-0. 5 mA) or the central administration of corticotropin-releasing factor (CRF; astressin, 10 microg/kg) or cholecystokinin (CCKB; 20 microg/kg) receptor antagonists and peripheral glucocorticoid receptor (RU-486; 10 mg/kg) or ganglion (hexamethonium; 15 mg/kg) blockers on TNBS-induced colitis were studied by the assessment of macroscopic score, histological analysis and tissue myeloperoxidase activity.", "output": {"entities": {"gene": [{"text": "corticotropin-releasing factor", "start": 66, "end": 96}], "disease": [{"text": "ganglion", "start": 250, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Together, these results establish a novel pathway for the negative regulation of TLR responses through the nervous system that critically involves induction of the transcriptional repressor ICER by the neuropeptide CGRP.", "output": {"entities": {"gene": [{"text": "CGRP", "start": 215, "end": 219}], "disease": [{"text": "nervous system", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.", "output": {"entities": {"gene": [{"text": "CCDC47", "start": 11, "end": 17}], "disease": [{"text": "Woolly Hair", "start": 61, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCDC47", "start": 11, "end": 17}, "tail": {"text": "Woolly Hair", "start": 61, "end": 72}}]}}, "schema": []}
{"input": "Two major families of receptor tyrosine kinases, the epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor (PDGFR) families, have received a great deal of attention as potential therapeutic targets for pulmonary diseases, as these receptors have been shown to play key roles in chronic tissue remodeling in asthma, bronchitis, and pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "PDGFR", "start": 138, "end": 143}], "disease": [{"text": "bronchitis", "start": 345, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "In a transgenic mouse with cardiac specific expression of the Thr400Asn mutation in PRKAG2 (TG (T400N)), we previously reported initial cardiac hypertrophy (ages 2-8 weeks) followed by dilation and failure (ages 12-20 weeks).", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 84, "end": 90}], "disease": [{"text": "dilation", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Germline BRCA2 mutations are associated with poorer outcome prostate cancer (PCa) compared with sporadic tumours but this association remains to be characterised.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 9, "end": 14}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The PTEN/Akt1/mTOR signaling pathway will continue to be a critical area of study in the pathogenesis of pulmonary hypertension, and specific Akt isoforms may help specify therapeutic targets for the treatment of pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Akt1", "start": 9, "end": 13}], "disease": [{"text": "pulmonary hypertension", "start": 105, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "A mild hypersensitivity to X-rays has been reported for DSAP-derived fibroblasts and frequent over-expression of p53 has been found in lesional epidermis.", "output": {"entities": {"gene": [{"text": "p53", "start": 113, "end": 116}], "disease": [{"text": "hypersensitivity", "start": 7, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We found that GluD1 knockout mice (GluD1 KO) were hyperactive, manifested lower anxiety-like behavior, depression-like behavior in a forced swim test and robust aggression in the resident-intruder test.", "output": {"entities": {"gene": [{"text": "GluD1", "start": 14, "end": 19}], "disease": [{"text": "depression", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To clarify the role of TNFR2, we developed a TNF-α-induced bone resorption model using cholesterol-bearing pullulan nanogel as a TNF-α carrier to minimize the influence of inflammatory cytokines other than TNF-α.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 23, "end": 28}], "disease": [{"text": "bone resorption", "start": 59, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction.", "output": {"entities": {"gene": [{"text": "RPGRIP1L", "start": 23, "end": 31}], "disease": [{"text": "retinal degeneration", "start": 88, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPGRIP1L", "start": 23, "end": 31}, "tail": {"text": "retinal degeneration", "start": 88, "end": 108}}]}}, "schema": []}
{"input": "Previously, we have shown that Msh2-null mice display increased sensitivity to ultraviolet (UV) B-induced tumorigenesis, but squamous cell carcinomas (SCC) generated are microsatellite stable, suggesting a role for MMR other than postreplicative repair in UV-induced cutaneous tumour formation.", "output": {"entities": {"gene": [{"text": "MMR", "start": 215, "end": 218}], "disease": [{"text": "tumorigenesis", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Here we further investigated the role of NCX in the etiology of seizures by quantifying the effects of KB-R7943 and SN-6, potent inhibitors of the reverse mode of NCX subtypes 3 (NCX3) and 1 (NCX1), respectively, on the occurrence of acute seizures and status epilepticus induced by intraperitoneal administration of pilocarpine, a muscarinic acetylcholine receptor agonist.", "output": {"entities": {"gene": [{"text": "NCX1", "start": 192, "end": 196}], "disease": [{"text": "status epilepticus", "start": 253, "end": 271}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NCX1", "start": 192, "end": 196}, "tail": {"text": "status epilepticus", "start": 253, "end": 271}}]}}, "schema": []}
{"input": "DNA obtained from 18 cases of familial ovarian cancer without mutation of the BRCA1 and BRCA2 genes, 20 cases with BRCA1 mutation, 20 cases of sporadic ovarian cancer, and 19 controls were screened for mutations in the coding region of the ER-alpha gene using direct sequencing.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 88, "end": 99}], "disease": [{"text": "sporadic", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Ovarian responsiveness to FSH in normogonadotropic anovulatory infertile women was assessed during ovulation induction, and DNA was analyzed to determine the FSH receptor genotype.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 158, "end": 170}], "disease": [{"text": "infertile", "start": 63, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We found that expression of Swiss Cheese, a neurodegenerative protein, increased 34-fold and that its human ortholog, neuropathy target esterase, is also upregulated in response to adenovirus-mediated overexpression of TIGR/MYOC in perfused postmortem human eyes.", "output": {"entities": {"gene": [{"text": "neuropathy target esterase", "start": 118, "end": 144}], "disease": [{"text": "adenovirus", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "A total of 105 sporadic breast carcinomas were analysed for LOH in the regions of BRCA1, BRCA2, TP53, Caveolin1, \" putative BRCA3 \", PTEN, ATM and E-cadherin and correlated it with clinicopathological features.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 89, "end": 94}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The mammalian target of rapamycin (mTOR) signaling pathway is a key developmental pathway involved in mechanisms underlying cellular aging and neurodegeneration.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 4, "end": 33}], "disease": [{"text": "neurodegeneration", "start": 143, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "To assess whether the IL13 variant Arg110Gln is associated with cedar pollinosis, one of the most common atopic diseases in the Japanese population, we examined the Arg110Gln variant using PCR-RFLP to compare the genotype and allele frequencies between 95 patients with cedar pollinosis and 95 healthy control subjects.", "output": {"entities": {"gene": [{"text": "IL13", "start": 22, "end": 26}], "disease": [{"text": "atopic", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This virus-induced dissociation of utrophin was affected by genistein treatment, suggesting a role of receptor tyrosine phosphorylation in the process.", "output": {"entities": {"gene": [{"text": "utrophin", "start": 35, "end": 43}], "disease": [{"text": "dissociation", "start": 19, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "SIRT1 suppressed EAE clinical symptoms compared with wild-type EAE mice and prevented or altered the phenotype of inflammation in spinal cords; as a result, demyelination and axonal injury were reduced.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 0, "end": 5}], "disease": [{"text": "demyelination", "start": 157, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 0, "end": 5}, "tail": {"text": "demyelination", "start": 157, "end": 170}}]}}, "schema": []}
{"input": "The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.", "output": {"entities": {"gene": [{"text": "GATA3", "start": 61, "end": 66}], "disease": [{"text": "HDR syndrome", "start": 25, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA3", "start": 61, "end": 66}, "tail": {"text": "HDR syndrome", "start": 25, "end": 37}}]}}, "schema": []}
{"input": "A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 8, "end": 13}], "disease": [{"text": "Hydrocephalus", "start": 133, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCND2", "start": 8, "end": 13}, "tail": {"text": "Hydrocephalus", "start": 133, "end": 146}}]}}, "schema": []}
{"input": "In 288 white children, the IL13 130Gln allele was associated with atopy (RR = 1. 9, P = 0. 047), and with atopic dermatitis (RR = 2. 5, P = 0. 014).", "output": {"entities": {"gene": [{"text": "IL13", "start": 27, "end": 31}], "disease": [{"text": "atopy", "start": 66, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "A new case of acute monocytic leukemia observed in a 73-year-old male (ANLLM5) with an unusual t (8; 22) (p11; q13) is reported.", "output": {"entities": {"gene": [{"text": "p11", "start": 106, "end": 109}], "disease": [{"text": "acute monocytic leukemia", "start": 14, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The NUP98/RAP1GDS1 (NRG) is a new fusion gene, originating from the t (4; 11) (q21; p15) translocation, that characterizes a subset of T-cell acute lymphoblastic leukemia (T-ALL).", "output": {"entities": {"gene": [{"text": "NUP98", "start": 4, "end": 9}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "A 70-year-old woman was admitted with rectal bleeding accompanied by widespread petechiae, bruising, tongue and buccal mucosa bleeding, and epistaxes and proved refractory to HLA-and HPA-matched PLTs.", "output": {"entities": {"gene": [{"text": "HPA", "start": 183, "end": 186}], "disease": [{"text": "petechiae", "start": 80, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Strong ARHI expression was found in normal ovarian surface epithelial cells, cysts and follicles using immunohistochemistry and in situ hybridization.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 7, "end": 11}], "disease": [{"text": "cysts", "start": 77, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis that K8/K18/K19 variants associate with primary biliary cirrhosis (PBC), an autoimmune cholestatic liver disease characterized by the presence of serum AMA.", "output": {"entities": {"gene": [{"text": "K19", "start": 37, "end": 40}], "disease": [{"text": "primary biliary cirrhosis", "start": 65, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We identified 25 genes, including hypoxia-related genes (e. g., MIF, SCD1, P4HA1, ENO1, and STAT1) and cell cycle-and DNA repair-related genes (e. g., TACC3, PRDX1, PRKDC, and H2AFY).", "output": {"entities": {"gene": [{"text": "TACC3", "start": 151, "end": 156}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "These results and others obtained in models of myocardial stunning and hypertrophy suggest that inhibitors of EPHX2 or sEH have therapeutic potential in a broad range of cardiovascular diseases.", "output": {"entities": {"gene": [{"text": "EPHX2", "start": 110, "end": 115}], "disease": [{"text": "hypertrophy", "start": 71, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Our case confirms that the inv (11) is a rare chromosomal translocation that is associated with therapy-related or de novo myeloid malignancy and involves NUP98 and DDX10 but not MLL.", "output": {"entities": {"gene": [{"text": "DDX10", "start": 165, "end": 170}], "disease": [{"text": "chromosomal translocation", "start": 46, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that SG635-p53, as a fiber chimeric oncolytic adenovirus in combination with p53 expression, may serve as a novel, promising and safe anticancer agent for the treatment of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 189, "end": 192}], "disease": [{"text": "adenovirus", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In the group with OPG patients, there was a significantly higher incidence of freckling (P = 0. 017), neurofibromatosis bright objects (NBO) (P = 0. 0038), compared to the group without OPG.", "output": {"entities": {"gene": [{"text": "OPG", "start": 18, "end": 21}], "disease": [{"text": "freckling", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The overall 5-year RSR of the patients in the BRCA1 families, BRCA2 families, non-BRCA1/2 families and among sporadic cases was 67%, 77%, 86% and 78%, respectively.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 62, "end": 67}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The differences of promoter hypermethylation of RASSF1A and EBV viral load among T, P, and Z tissues were statistically significant, with more frequent methylation and higher viral load detected when tissues examined were nearer to the NPC tissues.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 48, "end": 55}], "disease": [{"text": "viral load", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine whether airway epithelial cells (AECs) from asthmatic children differentially express TGF-β2, VEGF, ADAM33, or periostin compared with cells from atopic nonasthmatic and healthy children intrinsically or in response to IL-4/IL-13 stimulation.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 247, "end": 252}], "disease": [{"text": "atopic", "start": 169, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Cultured fibroblasts from patients with familial Alzheimer' s disease (FAD; n = 6), sporadic Alzheimer' s disease (SAD; n = 4), and age-matched healthy control subjects (n = 4) were studied with an ACAS Interactive Laser Cytometer (ACAS-470).", "output": {"entities": {"gene": [{"text": "FAD", "start": 71, "end": 74}], "disease": [{"text": "sporadic", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Estrogen Sulfotransferase Is an Oxidative Stress-responsive Gene That Gender-specifically Affects Liver Ischemia/Reperfusion Injury.", "output": {"entities": {"gene": [{"text": "Estrogen Sulfotransferase", "start": 0, "end": 25}], "disease": [{"text": "Liver", "start": 98, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Estrogen Sulfotransferase", "start": 0, "end": 25}, "tail": {"text": "Liver", "start": 98, "end": 103}}]}}, "schema": []}
{"input": "Transcriptional co-activator with PDZ-binding motif (TAZ), a downstream effector of the Hippo pathway, has been reported to regulate organ size, tissue homeostasis, and tumorigenesis by acting as a transcriptional co-activator.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 53, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We assessed the effect of novel immunotherapeutic heat-killed bacterial (Actinomycetales) preparations on the development of myointimal hyperplasia (MIH) in a rat carotid balloon trauma model and the effect on the immune response by measuring the expression of interferon gamma (IFN-gamma; (Th1) and interleukin 4 (IL-4; Th2).", "output": {"entities": {"gene": [{"text": "IFN", "start": 279, "end": 282}], "disease": [{"text": "hyperplasia", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that RIOK3 is necessary for maintaining actin cytoskeletal organisation required for migration and invasion, biological processes that are necessary for hypoxia-driven metastasis.", "output": {"entities": {"gene": [{"text": "RIOK3", "start": 32, "end": 37}], "disease": [{"text": "hypoxia", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that loss of FAT1 and β-catenin are associated with breast cancer progression, aggressive behavior, and poor prognosis.", "output": {"entities": {"gene": [{"text": "FAT1", "start": 33, "end": 37}], "disease": [{"text": "aggressive behavior", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias.", "output": {"entities": {"gene": [{"text": "Dlx3", "start": 40, "end": 44}], "disease": [{"text": "cleft lip/palate", "start": 270, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "Immunocytochemistry showed that increased expression of TIAR occurred mainly in the CA1 sector of hippocampus 24 hr after global ischemia, and in cortical and striatal neurons 24 hr after 20 or 90 min of focal ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 84, "end": 87}], "disease": [{"text": "ischemia", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Our goal was to investigate whether genetic variation in TNF and LTA is associated with asthma and atopy and whether the association is modified by parental smoking in a Mexican population with high ozone exposure.", "output": {"entities": {"gene": [{"text": "LTA", "start": 65, "end": 68}], "disease": [{"text": "smoking", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Uncontrolled generation of bradykinin (BK) due to insufficient levels of protease inhibitors controlling contact phase (CP) activation, increased activity of CP proteins, and/or inadequate degradation of BK into inactive peptides increases vascular permeability via BK-receptor 2 (BKR2) and results in subcutaneous and submucosal edema formation.", "output": {"entities": {"gene": [{"text": "BKR2", "start": 281, "end": 285}], "disease": [{"text": "edema", "start": 330, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "Using our 10 kb probes we demonstrated that the chromodomain gene CHD7 was disrupted by the translocation between exons 3 and 8.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 66, "end": 70}], "disease": [{"text": "translocation", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Thus, THC or cannabinoids with activity at the CB2 receptor may be valuable targets for treating atherosclerosis.", "output": {"entities": {"gene": [{"text": "CB2", "start": 47, "end": 50}], "disease": [{"text": "atherosclerosis", "start": 97, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CB2", "start": 47, "end": 50}, "tail": {"text": "atherosclerosis", "start": 97, "end": 112}}]}}, "schema": []}
{"input": "ERAP1 and ZNF816A were associated with type 1 (early onset) psoriasis in the Chinese Han population (test for heterogeneity P = 6. 5 & #215; 10 & #8315; & #179; and P = 1. 5 & #215; 10 & #8315; & #179;, respectively).", "output": {"entities": {"gene": [{"text": "ZNF816A", "start": 10, "end": 17}], "disease": [{"text": "psoriasis", "start": 60, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF816A", "start": 10, "end": 17}, "tail": {"text": "psoriasis", "start": 60, "end": 69}}]}}, "schema": []}
{"input": "Quantification of Bcl-2 levels showed a 34% to 51% reduction in autistic cerebellum (M +/-SD per 75 microg protein 0. 29 +/-0. 08; N = 5) compared with controls (M +/-SD per 75 microg protein 0. 59 +/-0. 31; N = 8, p & lt; 0. 0451).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 18, "end": 23}], "disease": [{"text": "autistic", "start": 64, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 18, "end": 23}, "tail": {"text": "autistic", "start": 64, "end": 72}}]}}, "schema": []}
{"input": "Immunocytochemical studies confirmed that ZBP-89 expression is elevated in neoplastic tissue and chronic gastritis, whereas Sp1 expression was nearly unchanged.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 124, "end": 127}], "disease": [{"text": "chronic gastritis", "start": 97, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Prospective studies investigating the impact of RBP4 on the development of glucose intolerance are needed.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 48, "end": 52}], "disease": [{"text": "glucose intolerance", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The fundus of gp130 (F/F)/Tff2 (-/-) mice displayed glandular atrophy and metaplasia, indicating accelerated preneoplasia.", "output": {"entities": {"gene": [{"text": "Tff2", "start": 26, "end": 30}], "disease": [{"text": "metaplasia", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Transcatheter arterial chemoembolization (TACE) has become the standard treatment modality for unresectable hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 134, "end": 137}], "disease": [{"text": "unresectable hepatocellular carcinoma", "start": 95, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The cells were heterogeneous and mainly consisted of those with CD4, CD8 as well as activation markers and adhesion molecules including IL-2Ralpha, beta, gamma, CD45RO, Tf-R, HLA-DR, LFA-1alpha, beta, LFA-3, ICAM-1 and OX40 but without CD3 surface markers.", "output": {"entities": {"gene": [{"text": "OX40", "start": 219, "end": 223}], "disease": [{"text": "adhesion", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Similar findings in purine nucleoside phosphorylase (PNP) deficiency (although nucleosides replace the normal bases) likewise exclude hypoxia in the aetiology of the albeit milder neurological deficits.", "output": {"entities": {"gene": [{"text": "PNP", "start": 53, "end": 56}], "disease": [{"text": "hypoxia", "start": 134, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The single-nucleotide polymorphisms (SNPs) rs6700125 and rs6690993 in FGGY (FLJ10986) were recently reported to be a susceptibility factor for sporadic amyotrophic lateral sclerosis (SALS) in Caucasian populations in genome-wide association studies.", "output": {"entities": {"gene": [{"text": "FLJ10986", "start": 76, "end": 84}], "disease": [{"text": "sporadic", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We therefore investigated the involvement of SHH signaling in the pathogenesis of neuroblastoma, a common childhood malignant tumor of the sympathetic nervous system.", "output": {"entities": {"gene": [{"text": "SHH", "start": 45, "end": 48}], "disease": [{"text": "neuroblastoma", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Four additional missense variants (one in BRCA1 and three in BRCA2) with a possible association with an increased risk ovarian cancer were revealed, resulting in a total frequency of BRCA gene alterations of 17/161 (11%).", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 42, "end": 47}], "disease": [{"text": "ovarian cancer", "start": 119, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 42, "end": 47}, "tail": {"text": "ovarian cancer", "start": 119, "end": 133}}]}}, "schema": []}
{"input": "Chromosome analysis showed a 46, XX karyotype and translocation of SRY (testis-determining factor) from chromosome Y to chromosome X was identified by fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "testis-determining factor", "start": 72, "end": 97}], "disease": [{"text": "translocation", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis provides valuable preoperative information to assess the risk of malignancy in A-PG and E-PGLs and should be considered in the work up of all E-PGL lesions.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 108, "end": 112}], "disease": [{"text": "malignancy", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Proteomic analysis of death-inducing signaling complex formation during TRA-8 treatment shows that the translocation of TRAIL-R2-associated apoptotic proteins was significantly altered.", "output": {"entities": {"gene": [{"text": "TRAIL-R2", "start": 120, "end": 128}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated previously that OX40 and its ligand, gp34, directly mediate adhesion of activated normal CD4 + T cells, as well as human T-cell leukemia virus type I (HTLV-I)-transformed T cells to vascular endothelial cells.", "output": {"entities": {"gene": [{"text": "OX40", "start": 32, "end": 36}], "disease": [{"text": "adhesion", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Biology of the immunomodulatory molecule HLA-G in human liver diseases.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 41, "end": 46}], "disease": [{"text": "liver diseases", "start": 56, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "MSH6 mutation carriers have later age of onset of both colorectal cancer (62 vs. 51 years) and endometrial cancer (58 vs. 48 years) and a larger proportion of endometrial cancer than MLH1 or MSH2 mutation carriers.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 0, "end": 4}], "disease": [{"text": "colorectal cancer", "start": 55, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH6", "start": 0, "end": 4}, "tail": {"text": "colorectal cancer", "start": 55, "end": 72}}]}}, "schema": []}
{"input": "This converging cross-species evidence implicates ADCY7 in the modulation of mood regulatory neural mechanisms and, possibly, risk for and pathophysiology of depression, together supporting a continuous dimensional approach to major depressive disorder and other affective disorders.", "output": {"entities": {"gene": [{"text": "ADCY7", "start": 50, "end": 55}], "disease": [{"text": "affective disorders", "start": 263, "end": 282}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADCY7", "start": 50, "end": 55}, "tail": {"text": "affective disorders", "start": 263, "end": 282}}]}}, "schema": []}
{"input": "Skin sample analysis showed a higher expression of genes encoding pro-inflammatory cytokines (Il-8, Il-1b, TNF-a) and inflammasome-related genes (NALP-3 and CASP-1) in rosacea, especially PPR.", "output": {"entities": {"gene": [{"text": "Il-1b", "start": 100, "end": 105}], "disease": [{"text": "rosacea", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "A role for BRCA2 in sporadic breast and ovarian cancer has been suggested by loss of heterozygosity (LOH) studies which show frequent LOH in the BRCA2 region at chromosome 13q12.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 11, "end": 16}], "disease": [{"text": "sporadic", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Genes found to be most influential to development of the highest grade of astrocytoma, Glioblastoma multiforme were: COL4A1, EGFR, BTF3, MPP2, RAB31, CDK4, CD99, ANXA2, TOP2A, and SERBP1.", "output": {"entities": {"gene": [{"text": "COL4A1", "start": 117, "end": 123}], "disease": [{"text": "astrocytoma", "start": 74, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.", "output": {"entities": {"gene": [{"text": "RNASET2", "start": 41, "end": 48}], "disease": [{"text": "brain", "start": 84, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNASET2", "start": 41, "end": 48}, "tail": {"text": "brain", "start": 84, "end": 89}}]}}, "schema": []}
{"input": "Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4 + T-cell help.", "output": {"entities": {"gene": [{"text": "CD4", "start": 123, "end": 126}], "disease": [{"text": "common variable immunodeficiency", "start": 21, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "These data firmly establish that both pyridoxine responsive and nonresponsive forms of GA result from mutations in the OATase structural gene.", "output": {"entities": {"gene": [{"text": "OATase", "start": 119, "end": 125}], "disease": [{"text": "GA", "start": 87, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OATase", "start": 119, "end": 125}, "tail": {"text": "GA", "start": 87, "end": 89}}]}}, "schema": []}
{"input": "In fibroblasts, silencing SPL promoted tumorigenic transformation through a pathway involving extracellular transport of S1P through S1P transporter spinster homolog 2 (SPNS2), S1P receptor activation, JAK2/STAT3-dependent miR-181b-1 induction, and silencing of miR-181b-1 target cylindromatosis (CYLD).", "output": {"entities": {"gene": [{"text": "JAK2", "start": 202, "end": 206}], "disease": [{"text": "tumorigenic transformation", "start": 39, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that ST2 (-/-) mice exhibit reduced cutaneous inflammatory responses compared with WT mice in a phorbol ester-induced model of skin inflammation.", "output": {"entities": {"gene": [{"text": "ST2", "start": 19, "end": 22}], "disease": [{"text": "skin inflammation", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "These studies identify a key role for Cck in the development and treatment of mania, and describe some of the molecular mechanisms by which lithium may act as an effective antimanic agent.", "output": {"entities": {"gene": [{"text": "Cck", "start": 38, "end": 41}], "disease": [{"text": "mania", "start": 78, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cck", "start": 38, "end": 41}, "tail": {"text": "mania", "start": 78, "end": 83}}]}}, "schema": []}
{"input": "In inclusion-body myositis muscle fibers Parkinson-associated DJ-1 is increased and oxidized.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 62, "end": 66}], "disease": [{"text": "myositis", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "This study reports associations between 5-HTTLPR, alcohol intoxication and intention to drive among young adult patrons exiting on-premise drinking establishments (i. e. bars) at night.", "output": {"entities": {"gene": [{"text": "5-HTTLPR", "start": 40, "end": 48}], "disease": [{"text": "alcohol intoxication", "start": 50, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HTTLPR", "start": 40, "end": 48}, "tail": {"text": "alcohol intoxication", "start": 50, "end": 70}}]}}, "schema": []}
{"input": "To use MRI to study the sacroiliac joint (SIJ) and lumbar spine (LS) and explore the relationship between sites and extent of inflammation and HLA-B27 status over 12 months.", "output": {"entities": {"gene": [{"text": "MRI", "start": 7, "end": 10}], "disease": [{"text": "inflammation", "start": 126, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In various cancers, hypoxia and CCN2 promote stem and progenitor cell properties, and regulate the proliferation, migration and phenotype of cancer cells.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 32, "end": 36}], "disease": [{"text": "hypoxia", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Neuroinflammation-associated impairment in motor behavior and cognitive function was also attenuated in the LCN2-deficient mice, as determined by the rotarod performance test, fatigue test, open-field test, and object recognition task.", "output": {"entities": {"gene": [{"text": "LCN2", "start": 108, "end": 112}], "disease": [{"text": "fatigue", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.", "output": {"entities": {"gene": [{"text": "SGOL1", "start": 98, "end": 103}], "disease": [{"text": "CAID", "start": 22, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SGOL1", "start": 98, "end": 103}, "tail": {"text": "CAID", "start": 22, "end": 26}}]}}, "schema": []}
{"input": "The most frequent mutations presented in 8 HIV co-infected patients and one mono-infected patient with antiretroviral therapy (ART) experience were rtM204V and six of them showed genotype G (6/9).", "output": {"entities": {"gene": [{"text": "ART", "start": 127, "end": 130}], "disease": [{"text": "mono", "start": 76, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that specific astrocytic deficits in GFAP expression in corticolimbic circuits may be a general correlate of depressive-like behavior in animal models in addition to human major depression.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 59, "end": 63}], "disease": [{"text": "major depression", "start": 194, "end": 210}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GFAP", "start": 59, "end": 63}, "tail": {"text": "major depression", "start": 194, "end": 210}}]}}, "schema": []}
{"input": "EMSA showed that AP-1 binding to hPAEC nuclear protein extracts was significantly enhanced by hypoxia, the increase being dependent on store-operated Ca2 + influx and sensitive to La3 +, an SOC inhibitor.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "105 women were classified as having sporadic disease (94 with wild-type or known polymorphisms and 11 with variants of unclear significance) and 22 as having genetic predisposition (deleterious mutations in BRCA1 [15] or BRCA2 [seven]).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 221, "end": 226}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "There was a significant difference between the current smoking and nonsmoking groups in the allele frequency of the CCK-45C/T polymorphism.", "output": {"entities": {"gene": [{"text": "CCK", "start": 116, "end": 119}], "disease": [{"text": "smoking", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Pathological response was determined in each resected metastasis as TRG rated from 1 (complete) to 5 (no response).", "output": {"entities": {"gene": [{"text": "TRG", "start": 68, "end": 71}], "disease": [{"text": "metastasis", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "However, when present in lymphocytes of the cancer patients, all 3 loci change their replication mode: alleles of TP53 and D21S55 become asynchronous, whereas the early replicating allele of GABRB3 delays replication, leading to relaxation in the imprinted mode of replication.", "output": {"entities": {"gene": [{"text": "GABRB3", "start": 191, "end": 197}], "disease": [{"text": "cancer", "start": 44, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We assessed whether circulatory acute phase reactants were associated with smoking and whether or not the association was modified by the major cytokine gene of the acute phase reaction, interleukin-6 (IL-6).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 202, "end": 206}], "disease": [{"text": "smoking", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "A direct role of sodium channels in pain has recently been confirmed by establishing a monogenic link between SCN9A, the gene which encodes sodium channel Nav1. 7, and pain disorders in humans, with gain-of-function mutations causing severe pain syndromes, and loss-of-function mutations causing congenital indifference to pain.", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 110, "end": 115}], "disease": [{"text": "congenital indifference to pain", "start": 296, "end": 327}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN9A", "start": 110, "end": 115}, "tail": {"text": "congenital indifference to pain", "start": 296, "end": 327}}]}}, "schema": []}
{"input": "In uterine tissues of ovariectomized mice injected with P (4), miR-200 expression was significantly decreased, STAT5b expression was up-regulated, and 20α-HSD mRNA was decreased, but in 15 d postcoitum pregnant mice injected with the PR antagonist RU486, preterm labor was associated with increased miR-200a, decreased STAT5b, and enhanced 20α-HSD expression.", "output": {"entities": {"gene": [{"text": "STAT5b", "start": 111, "end": 117}], "disease": [{"text": "preterm labor", "start": 255, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Colonic epithelial cell expression of ICAM-1 relates to loss of surface continuity: a comparative study of inflammatory bowel disease and colonic neoplasms.", "output": {"entities": {"gene": [{"text": "ICAM-1", "start": 38, "end": 44}], "disease": [{"text": "colonic neoplasms", "start": 138, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ICAM-1", "start": 38, "end": 44}, "tail": {"text": "colonic neoplasms", "start": 138, "end": 155}}]}}, "schema": []}
{"input": "RT-qPCR results of our own cohort identified NECTIN2 (P & #8201; = & #8201; 0. 036) as the only gene that could predict metastasis.", "output": {"entities": {"gene": [{"text": "NECTIN2", "start": 45, "end": 52}], "disease": [{"text": "metastasis", "start": 120, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NECTIN2", "start": 45, "end": 52}, "tail": {"text": "metastasis", "start": 120, "end": 130}}]}}, "schema": []}
{"input": "The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.", "output": {"entities": {"gene": [{"text": "TBX22", "start": 36, "end": 41}], "disease": [{"text": "X-linked cleft palate and ankyloglossia", "start": 56, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX22", "start": 36, "end": 41}, "tail": {"text": "X-linked cleft palate and ankyloglossia", "start": 56, "end": 95}}]}}, "schema": []}
{"input": "An inverted melatonin rhythm (i. e., melatonin peaks during the day instead of at night) and associated sleep-phase disturbances in individuals with SMS, as well as a short-period circadian rhythm in mice with a chromosomal deletion of Rai1, support SMS as a circadian-rhythm-dysfunction disorder.", "output": {"entities": {"gene": [{"text": "Rai1", "start": 236, "end": 240}], "disease": [{"text": "chromosomal deletion", "start": 212, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Radioligand assays and Scatchard analysis in both tissue types revealed a single class of high-affinity IGF-IR-binding sites with a similar dissociation constant (K (d;) 0. 14 +/-0. 02 nmol/L, n = 18).", "output": {"entities": {"gene": [{"text": "IGF", "start": 104, "end": 107}], "disease": [{"text": "dissociation", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic and genetic loss of Hic1 function accentuates the role of p53 in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Hic1", "start": 31, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Genetic polymorphisms in DNA repair genes may influence individual variation in DNA repair capacity, which may be associated with risk of gastric antrum adenocarcinoma (GAA) related to Helicobacter pylori infection.", "output": {"entities": {"gene": [{"text": "GAA", "start": 169, "end": 172}], "disease": [{"text": "adenocarcinoma", "start": 153, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In this study, we identified two novel mutations, c. 3742G & gt; A (p. E1248K) and c. 6051 + 1G & gt; A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1.", "output": {"entities": {"gene": [{"text": "MYO7A", "start": 150, "end": 155}], "disease": [{"text": "USH1", "start": 200, "end": 204}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYO7A", "start": 150, "end": 155}, "tail": {"text": "USH1", "start": 200, "end": 204}}]}}, "schema": []}
{"input": "The results found that the expression levels of both PTK6 mRNA and protein in ESCC tissues were significantly lower than those in peritumoral normal esophageal tissues.", "output": {"entities": {"gene": [{"text": "PTK6", "start": 53, "end": 57}], "disease": [{"text": "esophageal", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "DPP-4 inhibition increases plasma GLP-1 levels, particularly in uremia, and reduces expression of cardiac mRNA levels of matrix proteins and B-type natriuretic peptides (BNP).", "output": {"entities": {"gene": [{"text": "BNP", "start": 170, "end": 173}], "disease": [{"text": "uremia", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Lico-E also has neuroprotective effect against 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine-induced nigrostriatal dopaminergic neurodegeneration in mice, with up-regulation of HO-1 and NQO1 in the substantia nigra of the brain.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 188, "end": 192}], "disease": [{"text": "neurodegeneration", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In contrast, anti-HLA-DR or anti-OX40 ligand Ab mainly affected beryllium-induced proliferation responses with little impact on cytokines other than IL-2, thus implying that nonproliferating BAL CD4 (+) T cells may still contribute to inflammation.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 149, "end": 153}], "disease": [{"text": "inflammation", "start": 235, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "We investigated the molecular basis of another case of BSS with a deficient expression of GPIX, as detected by immunofluorescence studies.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 90, "end": 94}], "disease": [{"text": "BSS", "start": 55, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIX", "start": 90, "end": 94}, "tail": {"text": "BSS", "start": 55, "end": 58}}]}}, "schema": []}
{"input": "A short 3-min cerebral ischemia and a 3-min ischemia followed by a second lethal ischemia enhanced the expression of EP2 and EP4 receptors in CA1 pyramidal neurons of the hippocampus.", "output": {"entities": {"gene": [{"text": "CA1", "start": 142, "end": 145}], "disease": [{"text": "ischemia", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "SSCA and genomic sequence analysis of NSDHL identified in 6 patients with CHILD syndrome, including one boy as well as a mother and her daughter, mutations potentially impairing protein function.", "output": {"entities": {"gene": [{"text": "NSDHL", "start": 38, "end": 43}], "disease": [{"text": "CHILD syndrome", "start": 74, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NSDHL", "start": 38, "end": 43}, "tail": {"text": "CHILD syndrome", "start": 74, "end": 88}}]}}, "schema": []}
{"input": "Although inactivating frameshift mutations in the Transforming growth factor beta receptor type 2 (TGFBR2) gene are considered as drivers of microsatellite unstable (MSI) colorectal tumorigenesis, consequential alterations of the downstream target proteome are not resolved completely.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 99, "end": 105}], "disease": [{"text": "tumorigenesis", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "CLIP-PCR, by use of dried blood spots with a pooling strategy, efficiently offers a highly sensitive and high-throughput approach to detect asymptomatic submicroscopic infections with reduced cost and labor, making it an ideal tool for large-scale malaria surveillance in elimination settings.", "output": {"entities": {"gene": [{"text": "CLIP", "start": 0, "end": 4}], "disease": [{"text": "blood spots", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we exploited a lung epithelial cell-specific inhibitor [Formula: see text] kinase 2 (IKK2) knockout mouse model to determine the role of pulmonary inflammation in the pathophysiology due to exposure to diesel exhaust particulate matter (DEP).", "output": {"entities": {"gene": [{"text": "IKK2", "start": 107, "end": 111}], "disease": [{"text": "pulmonary inflammation", "start": 159, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IKK2", "start": 107, "end": 111}, "tail": {"text": "pulmonary inflammation", "start": 159, "end": 181}}]}}, "schema": []}
{"input": "In major depression, strongest evidence of association was observed for a single nucleotide polymorphism in ABI3BP, with six loci also showing suggestive association.", "output": {"entities": {"gene": [{"text": "ABI3BP", "start": 108, "end": 114}], "disease": [{"text": "major depression", "start": 3, "end": 19}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABI3BP", "start": 108, "end": 114}, "tail": {"text": "major depression", "start": 3, "end": 19}}]}}, "schema": []}
{"input": "The measurements of mRNA COX-I and 12S rRNA were normalized to the mRNA of actin, which is a housekeeping gene not influenced by hypoxia.", "output": {"entities": {"gene": [{"text": "COX", "start": 25, "end": 28}], "disease": [{"text": "hypoxia", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Importance of genetics in fetal alcohol effects: null mutation of the nNOS gene worsens alcohol-induced cerebellar neuronal losses and behavioral deficits.", "output": {"entities": {"gene": [{"text": "nNOS", "start": 70, "end": 74}], "disease": [{"text": "fetal alcohol effects", "start": 26, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nNOS", "start": 70, "end": 74}, "tail": {"text": "fetal alcohol effects", "start": 26, "end": 47}}]}}, "schema": []}
{"input": "CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.", "output": {"entities": {"gene": [{"text": "CBLB", "start": 0, "end": 4}], "disease": [{"text": "experimental autoimmune encephalomyelitis", "start": 107, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CBLB", "start": 0, "end": 4}, "tail": {"text": "experimental autoimmune encephalomyelitis", "start": 107, "end": 148}}]}}, "schema": []}
{"input": "Mutations in the gene for EpCAM are responsible for CTE.", "output": {"entities": {"gene": [{"text": "EpCAM", "start": 26, "end": 31}], "disease": [{"text": "CTE", "start": 52, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EpCAM", "start": 26, "end": 31}, "tail": {"text": "CTE", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "Relation between the plasma levels of LDL-cholesterol and the expression of the early marker of inflammation long pentraxin PTX3 and the stress response gene p66ShcA in pacemaker-implanted patients.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 124, "end": 128}], "disease": [{"text": "inflammation", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Angiogenesis is an essential component of cancer aggression and metastasis and HCC is a highly aggressive and angiogenic cancer.", "output": {"entities": {"gene": [{"text": "HCC", "start": 79, "end": 82}], "disease": [{"text": "aggression", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of glutathione S-transferase M1/T1, SOD2 and NQO1 genotypes did not differ significantly among the varicocele patients, idiopathic infertile patients and male controls.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 61, "end": 65}], "disease": [{"text": "varicocele", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.", "output": {"entities": {"gene": [{"text": "GJA1", "start": 28, "end": 32}], "disease": [{"text": "Craniometaphyseal dysplasia", "start": 61, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJA1", "start": 28, "end": 32}, "tail": {"text": "Craniometaphyseal dysplasia", "start": 61, "end": 88}}]}}, "schema": []}
{"input": "Anti-SIGIRR Ab over control-treated mice showed increased corneal opacity, stromal damage, and bacterial load.", "output": {"entities": {"gene": [{"text": "SIGIRR", "start": 5, "end": 11}], "disease": [{"text": "corneal opacity", "start": 58, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Myeloid DCs of current smokers with COPD displayed a significantly increased expression of receptors for antigen recognition such as BDCA-1 or Langerin, as compared with never-smoking controls.", "output": {"entities": {"gene": [{"text": "Langerin", "start": 143, "end": 151}], "disease": [{"text": "smoking", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "These results also suggested the availability of negative regulation of HIF-1 signals for uterine cancer treatment, especially for uterine sarcomas that have worse prognosis and show a high frequency of EGLN1 gene abnormality.", "output": {"entities": {"gene": [{"text": "EGLN1 gene", "start": 203, "end": 213}], "disease": [{"text": "uterine cancer", "start": 90, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The most common translocation in Ewing' s sarcoma encodes the EWS/FLI oncogenic transcription factor.", "output": {"entities": {"gene": [{"text": "EWS", "start": 62, "end": 65}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Some of these epigenetic alterations including promoter hypermethylation of genes like P16INK4a, BRCA1, BRCA2, ERα and RARβ2, APC, and RASSF1A have been associated with early stages of mammary gland tumorigenesis and have been suggested to be included in the models that evaluate individual breast cancer risk.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 104, "end": 109}], "disease": [{"text": "tumorigenesis", "start": 199, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 44, "end": 48}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "HER-2 overexpression, a predictive marker of tumour aggressiveness and responsiveness to therapy, occurs in 20-30% of breast cancer.", "output": {"entities": {"gene": [{"text": "HER-2", "start": 0, "end": 5}], "disease": [{"text": "aggressiveness", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Between May 2001 and February 2002, five patients between 4 and 12 years of age, receiving maintenance chemotherapy for ALL, presented with symptoms suggesting B19 infection (pallor, fatigue, petechiae and pancytopenia in four patients; generalized rash in two patients; acute hepatitis in one patient).", "output": {"entities": {"gene": [{"text": "B19", "start": 160, "end": 163}], "disease": [{"text": "petechiae", "start": 192, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The HER‑2 gene has been demonstrated to be a useful predictor of tumor aggression, which promotes the survival and growth of cancer cells through the mitogen‑activated protein kinase and/or phosphatidylinositol 3‑kinase (PI3K)/AKT pathway.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 221, "end": 225}], "disease": [{"text": "aggression", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Smoking did not influence breast cancer risk nor did genetic variations in NAT1, NAT2 or GSTM1 in combination with smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 81, "end": 85}], "disease": [{"text": "smoking", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Erythropoietin also protected hearts against doxorubicin-induced cardiomyocyte atrophy and degeneration, myocardial fibrosis, inflammatory cell infiltration, and downregulation of expression of GATA-4 and 3 sarcomeric proteins, myosin heavy chain, troponin I, and desmin.", "output": {"entities": {"gene": [{"text": "GATA", "start": 194, "end": 198}], "disease": [{"text": "atrophy", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The program involves-besides proliferation-cell dissociation, motility and invasiveness, controlled by intracellular signals impinging on PI3K and on the small G-proteins of the Rac/Rho family.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 138, "end": 142}], "disease": [{"text": "dissociation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The novel CRAd vector generated in this study holds promise for developing more effective therapeutics for not only melanoma but also other common cancers.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 10, "end": 14}], "disease": [{"text": "cancers", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "By contrast, treating hypoxic MDA-MB-231 cells with trifluoperazine (TFP) or serum withdrawal (SW), two activators of autophagy, diminished HIF-1alpha levels and stimulated LC3 processing.", "output": {"entities": {"gene": [{"text": "TFP", "start": 69, "end": 72}], "disease": [{"text": "hypoxic", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the USP46 gene might play a role in the pathophysiology of MDD in the Japanese population.", "output": {"entities": {"gene": [{"text": "USP46", "start": 29, "end": 34}], "disease": [{"text": "MDD", "start": 84, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "USP46", "start": 29, "end": 34}, "tail": {"text": "MDD", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "The analysis of the polymorphism A326T of gene ITLN-1 showed that in healthy postmenopausal female with genotype AA birth weight, BMD L2-L4 YA (%) and BMD L2-L4 AM (%) were significantly higher (BMD-bone mineral density; L2-L4--lumbar vertebrae no 2, 4; YA--peak adult bone mass; AM--age-matched bone mass).", "output": {"entities": {"gene": [{"text": "ITLN", "start": 47, "end": 51}], "disease": [{"text": "birth weight", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that excitatory afferent signals from the peripheral vestibular receptors, resulting from acute hypotension, release glutamate into postsynaptic neurons in the vestibular nuclei and the excitatory signals are transmitted through the GluR1 subunit of the AMPA receptors and the NR2B subunits of the NMDA receptors in the vestibular system.", "output": {"entities": {"gene": [{"text": "NR2B", "start": 299, "end": 303}], "disease": [{"text": "hypotension", "start": 118, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NR2B", "start": 299, "end": 303}, "tail": {"text": "hypotension", "start": 118, "end": 129}}]}}, "schema": []}
{"input": "The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation.", "output": {"entities": {"gene": [{"text": "KIF7", "start": 326, "end": 330}], "disease": [{"text": "acrocallosal syndrome", "start": 56, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF7", "start": 326, "end": 330}, "tail": {"text": "acrocallosal syndrome", "start": 56, "end": 77}}]}}, "schema": []}
{"input": "A lower proportion of individuals with a positive IFN-gamma response to HIV-1 p24 was observed in patients at a declining clinical stage: 62% in asymptomatic patients (CDC group A, n = 16) versus 19% in symptomatic patients (CDC groups B and C, n = 21; P = 0. 007, chi2 testing), whereas the proportion of individuals with a positive IL-4 response to HIV-1 p24 was almost similar in both groups of patients (25% versus 23. 8%).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 334, "end": 338}], "disease": [{"text": "asymptomatic", "start": 145, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "GH or IGF-I alone at three to four times the usual dose in rats failed to produce increases in heart and LV weights and hemodynamic effects; however, IGF-I/GH was synergistic, increasing body weight and LV weights by 39 and 35%, respectively.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 6, "end": 11}], "disease": [{"text": "body weight", "start": 187, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "This is in contrast to Pick' s disease without any tau gene mutations, which consist of tau with mainly three microtubule-binding domains and only a trace of tau, with four microtubule-binding domains.", "output": {"entities": {"gene": [{"text": "tau", "start": 51, "end": 54}], "disease": [{"text": "Pick' s disease", "start": 23, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 51, "end": 54}, "tail": {"text": "Pick' s disease", "start": 23, "end": 38}}]}}, "schema": []}
{"input": "Breast tumors of patients with a germ-line mutation in the BRCA1 or BRCA2 gene have an increase of additional genetic defects compared with sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 68, "end": 78}], "disease": [{"text": "sporadic", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to analyze the association of obesity and insulin resistance with adipose LPL activity and expression, and the influence of the PPARγ2 Pro12Ala polymorphism.", "output": {"entities": {"gene": [{"text": "LPL", "start": 86, "end": 89}], "disease": [{"text": "insulin resistance", "start": 54, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice expressing atrogin-1 in the heart displayed increased Foxo1 ubiquitylation and upregulation of known Forkhead target genes concomitant with suppression of cardiac hypertrophy, while mice lacking atrogin-1 displayed the opposite physiologic phenotype.", "output": {"entities": {"gene": [{"text": "Foxo1", "start": 70, "end": 75}], "disease": [{"text": "cardiac hypertrophy", "start": 171, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that iron probably plays a role in the proliferative changes observed in hemophilic joint disease and that aberrant expression of c-myc may underlie the iron effects.", "output": {"entities": {"gene": [{"text": "c-myc", "start": 153, "end": 158}], "disease": [{"text": "joint disease", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "No significant deviations in the population frequencies of GST T1 and M1 0/0 genotypes or their combination were recorded between diagnosed skin lesion patients and asymptomatic individuals in both clans.", "output": {"entities": {"gene": [{"text": "GST", "start": 59, "end": 62}], "disease": [{"text": "asymptomatic", "start": 165, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, knockdown of TFF3 reduced the VEGF protein secretion: as VEGF secretion was increased time dependent manner in response to the hypoxia induction in TFF3-WT cells; however, VEGF production was significantly decreased in TFF3-KD cells (621 ± 89 vs. 264 ± 73 at 6 h and 969 ± 97 vs. 508 ± 69 at 12 h, P < 0. 05).", "output": {"entities": {"gene": [{"text": "TFF3", "start": 26, "end": 30}], "disease": [{"text": "hypoxia", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "To determine whether such genomic alterations lead to Fhit inactivation, we have assessed the level of Fhit expression by immunohistochemical detection in sporadic tumors and cancers occurring in BRCA2 999del5 carriers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 196, "end": 201}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Only 1 microsatellite locus (2p25. 1) in stromal cells from hereditary breast cancers was associated with mutated TP53, whereas there were 66 such loci in cells from sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "TP53", "start": 114, "end": 118}], "disease": [{"text": "sporadic", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The present study suggests that LOI of H19 may play an important role in the pathogenesis of esophageal cancer.", "output": {"entities": {"gene": [{"text": "H19", "start": 39, "end": 42}], "disease": [{"text": "esophageal cancer", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations are rare in sporadic breast tumors, but expression of BRCA1 and BRCA2 genes can be downregulated in other mechanistic ways.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 82, "end": 93}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Since spinal p-p38 is pivotal for the development of chronic hypersensitivity in rodent models of pain, and p-p38 inhibitors have shown clinical potential in acute and chronic pain patients, we hypothesize that induction of spinal MKP-1 will prevent the development of peripheral nerve-injury-induced hypersensitivity and p-p38 overexpression.", "output": {"entities": {"gene": [{"text": "p38", "start": 15, "end": 18}], "disease": [{"text": "hypersensitivity", "start": 61, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The data showed overexpression of cyclin D1 and increased expression and activation of ERK1/2, p38 kinase and JNK1/2 with progression of tumor suggesting that MAP kinases play an important role during tumorigenesis.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 87, "end": 91}], "disease": [{"text": "tumorigenesis", "start": 201, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Our data show that ERK activation plays a specific role in maintaining prolonged referred (secondary) hyperalgesia in visceral pain.", "output": {"entities": {"gene": [{"text": "ERK", "start": 19, "end": 22}], "disease": [{"text": "hyperalgesia", "start": 102, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK", "start": 19, "end": 22}, "tail": {"text": "hyperalgesia", "start": 102, "end": 114}}]}}, "schema": []}
{"input": "All nine exons of the OA1 gene, as well as the 5' and 3' untranslated regions, were scanned for point mutations in PCR-amplified DNA from 60 OA1 patients.", "output": {"entities": {"gene": [{"text": "OA1", "start": 22, "end": 25}], "disease": [{"text": "OA1", "start": 141, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OA1", "start": 22, "end": 25}, "tail": {"text": "OA1", "start": 141, "end": 144}}]}}, "schema": []}
{"input": "We demonstrated that phenotypically different cellular constituents of uterine fibroids differentially express cellular RA-binding protein 2 (CRABP2), progesterone receptor B (PRB) and TGFB receptor 2 mRNA in fibroid-derived cells of VSMC and SMC phenotype.", "output": {"entities": {"gene": [{"text": "SMC", "start": 235, "end": 238}], "disease": [{"text": "fibroid", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We show that in the colon cancer cells HT-29 the inhibition of the chaperone function of Hsp90 by geldanamycin (GA) enhances the ubiquitinylation of cyclin E and triggers active degradation via the proteasome pathway.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 149, "end": 157}], "disease": [{"text": "colon cancer", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G & gt; A) or R173Q (6391G & gt; A) mutations.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 114, "end": 118}], "disease": [{"text": "AIP", "start": 234, "end": 237}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 114, "end": 118}, "tail": {"text": "AIP", "start": 234, "end": 237}}]}}, "schema": []}
{"input": "The role of ATF3 in promoting in vitro migration and invasion were evaluated by siRNA-mediated knockdown and adenovirus-mediated overexpression of ATF3.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 12, "end": 16}], "disease": [{"text": "adenovirus", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "A ∼ 680 kb duplication, confirmed by real-time PCR and G-to-FISH analyses, was observed between ∼ rs11859825 and rs9932411 in a 68-year-old male with severe obesity.", "output": {"entities": {"gene": [{"text": "FISH", "start": 60, "end": 64}], "disease": [{"text": "severe obesity", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The serum SHBG levels in homozygous genotype groups exhibit a sequence of 8/8 > 9/9 > 6/6, 7/7 repeats and the fall of serum SHBG trend is in reversed relation with the increase in body mass index (BMI), Homa-IR, and blood pressure.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 10, "end": 14}], "disease": [{"text": "body mass index", "start": 181, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In addition, the mutated protooncogenes were amplified in HCV-associated lymphomas and HCCs, but not in lymphomas of nonviral origin or HBV-associated HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 87, "end": 90}], "disease": [{"text": "lymphomas", "start": 73, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Thus, despite the rarity of somatic mutations in Chk2 in sporadic breast carcinomas, our results nevertheless reveal that concomitant loss of function in Chk2 (via down-regulation of expression) and p53 (via mutation) occurs in a proportion of sporadic cases.", "output": {"entities": {"gene": [{"text": "Chk2", "start": 49, "end": 53}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Analysis of an additional two human colon cancer cell lines with and without K-ras mutation also showed a K-ras-and VDR-dependent toxicity of MKK6.", "output": {"entities": {"gene": [{"text": "MKK6", "start": 142, "end": 146}], "disease": [{"text": "colon cancer", "start": 36, "end": 48}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MKK6", "start": 142, "end": 146}, "tail": {"text": "colon cancer", "start": 36, "end": 48}}]}}, "schema": []}
{"input": "A significant negative correlation was observed between IMPA2 mRNA levels and [Ca (2 +)] (B) in BLCLs from male (P = 0. 046), but not female BD-I patients.", "output": {"entities": {"gene": [{"text": "IMPA2", "start": 56, "end": 61}], "disease": [{"text": "BD-I", "start": 141, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IMPA2", "start": 56, "end": 61}, "tail": {"text": "BD-I", "start": 141, "end": 145}}]}}, "schema": []}
{"input": "Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.", "output": {"entities": {"gene": [{"text": "IFIT1", "start": 146, "end": 151}], "disease": [{"text": "adhesion", "start": 264, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "In detail, resveratrol down-regulates MALAT1, resulting in decreased nuclear localization of & #946;-catenin thus attenuated Wnt/& #946;-catenin signaling, which leads to the inhibition of CRC invasion and metastasis.", "output": {"entities": {"gene": [{"text": "MALAT1", "start": 38, "end": 44}], "disease": [{"text": "metastasis", "start": 206, "end": 216}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MALAT1", "start": 38, "end": 44}, "tail": {"text": "metastasis", "start": 206, "end": 216}}]}}, "schema": []}
{"input": "To develop an acenocoumarol (ACN) dosing algorithm for patients with atrial fibrillation or venous thromboembolism, considering the influence on the stable ACN dose of clinical factors and gene polymorphisms, including CYP2C9 * 2/* 3, VKORC1, CYP4F2 * 3, ABCB1, APOE, CYP2C19 * 2/* 17, and GGCX.", "output": {"entities": {"gene": [{"text": "GGCX", "start": 290, "end": 294}], "disease": [{"text": "venous thromboembolism", "start": 92, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "This study provides novel epidemiologic data through identification of FGFR1 gene amplification in Chinese NSCLC specimens (particularly squamous) and, importantly, extends the clinical significance of this finding by using multiple FGFR1-amplified squamous lung cancer PDTX models to show tumor stasis or regression effects using a specific FGFR inhibitor (AZD4547).", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 71, "end": 76}], "disease": [{"text": "regression", "start": 306, "end": 316}]}, "relations": {}}, "schema": []}
{"input": "We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 31, "end": 36}], "disease": [{"text": "SOD", "start": 72, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 31, "end": 36}, "tail": {"text": "SOD", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "Our results suggest a role for ACE in the bidirectional communication between the central nervous and immune systems in response to stress.", "output": {"entities": {"gene": [{"text": "ACE", "start": 31, "end": 34}], "disease": [{"text": "nervous", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The initial study cohort consisted of 7 pilocytic astrocytoma (PA), 19 ependymoma (EPN), 5 glioblastoma (GBM), 6 medulloblastoma (MED), and 5 nontumor brain (NT) control samples obtained from epilepsy surgery.", "output": {"entities": {"gene": [{"text": "MED", "start": 130, "end": 133}], "disease": [{"text": "epilepsy", "start": 192, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Amplified tumours were histopathologically more aggressive than non-amplified tumours, and features of aggressiveness increased with the mean HER2 copy number.", "output": {"entities": {"gene": [{"text": "HER2", "start": 142, "end": 146}], "disease": [{"text": "aggressiveness", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the relationship between Annexin A1 protein expression and pathological differentiation grade in biopsy samples from a large cohort of patients with oral squamous cell carcinoma (OSCC); and to evaluate the potential role of Annexin A1 on cell proliferation and tumorigenesis of OSCC.", "output": {"entities": {"gene": [{"text": "Annexin A1", "start": 66, "end": 76}], "disease": [{"text": "tumorigenesis", "start": 302, "end": 315}]}, "relations": {}}, "schema": []}
{"input": "SPP1 promoter polymorphisms and glioma risk in a Chinese Han population.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 0, "end": 4}], "disease": [{"text": "glioma", "start": 32, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "There is increasing interest in a pathogenetic role for angiotensin II in ischaemic retinopathies such as diabetic retinopathy and retinopathy of prematurity.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 56, "end": 70}], "disease": [{"text": "retinopathy of prematurity", "start": 131, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 56, "end": 70}, "tail": {"text": "retinopathy of prematurity", "start": 131, "end": 157}}]}}, "schema": []}
{"input": "These results suggest that a high expression of DT-diaphorase in podocytes could play a major role in the pathogenesis of renal toxicity and mitomycin C-induced hemolytic uremic syndrome, in which injury to the glomerular filtration mechanism is the primary damage, leading to a cascade of deleterious events including microangiopathic hemolytic anemia and thrombocytopenia.", "output": {"entities": {"gene": [{"text": "DT-diaphorase", "start": 48, "end": 61}], "disease": [{"text": "hemolytic uremic syndrome", "start": 161, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DT-diaphorase", "start": 48, "end": 61}, "tail": {"text": "hemolytic uremic syndrome", "start": 161, "end": 186}}]}}, "schema": []}
{"input": "The pathogenic mutant (P174L) of human Sco1 produces respiratory chain deficiency associated with cytochrome c oxidase (CcO) assembly defects.", "output": {"entities": {"gene": [{"text": "Sco1", "start": 39, "end": 43}], "disease": [{"text": "respiratory chain deficiency", "start": 53, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sco1", "start": 39, "end": 43}, "tail": {"text": "respiratory chain deficiency", "start": 53, "end": 81}}]}}, "schema": []}
{"input": "Modulation in activation and expression of phosphatase and tensin homolog on chromosome ten, Akt1, and 3-phosphoinositide-dependent kinase 1: further evidence demonstrating altered phosphoinositide 3-kinase signaling in postmortem brain of suicide subjects.", "output": {"entities": {"gene": [{"text": "phosphatase and tensin homolog", "start": 43, "end": 73}], "disease": [{"text": "suicide", "start": 240, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "breast cancer", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "breast cancer", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Previously, we reported that glycine N-methyltransferase (GNMT) knockout (Gnmt (-/-)) mice develop chronic hepatitis and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 121, "end": 124}], "disease": [{"text": "chronic hepatitis", "start": 99, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "LPS stimulation also significantly weakened the collagen adhesion capability of pEGFP-N1 transfected cells (P < 0. 01), but there was no significant difference in recombinant pEGFP-N1-Elafin cells (P > 0. 05).", "output": {"entities": {"gene": [{"text": "Elafin", "start": 184, "end": 190}], "disease": [{"text": "adhesion", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Loss of VHL gene expression correlated strongly with the appearance of NF-κB-and interferon gene signatures in both familial and sporadic cases of ccRCC.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 71, "end": 76}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To assess the association between PTPN22 1858C > T gene polymorphism and susceptibility to, and clinical presentation of, systemic lupus erythematosus (SLE).", "output": {"entities": {"gene": [{"text": "T gene", "start": 49, "end": 55}], "disease": [{"text": "systemic lupus erythematosus", "start": 122, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We describe herein the fourth family with MACS syndrome in two siblings carrying a novel homozygous mutation, c. 1878_1879insC in exon 8 of the RIN2 gene, which predicts p. Ile627Hisfs * 7.", "output": {"entities": {"gene": [{"text": "RIN2", "start": 144, "end": 148}], "disease": [{"text": "MACS syndrome", "start": 42, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIN2", "start": 144, "end": 148}, "tail": {"text": "MACS syndrome", "start": 42, "end": 55}}]}}, "schema": []}
{"input": "In summary, our results revealed that the Vpr-upregulated expression of miR-122 is closely related to the stimulation of HCV 5' UTR activity and HCV replication by Vpr, providing new evidence for how HIV interacts with HCV during HIV/HCV co-infection.", "output": {"entities": {"gene": [{"text": "miR-122", "start": 72, "end": 79}], "disease": [{"text": "co-infection", "start": 238, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.", "output": {"entities": {"gene": [{"text": "Atg-5", "start": 70, "end": 75}], "disease": [{"text": "ovarian cancer", "start": 131, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Atg-5", "start": 70, "end": 75}, "tail": {"text": "ovarian cancer", "start": 131, "end": 145}}]}}, "schema": []}
{"input": "Erythropoietin improves myocardial performance in doxorubicin-induced cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Erythropoietin", "start": 0, "end": 14}], "disease": [{"text": "cardiomyopathy", "start": 70, "end": 84}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Erythropoietin", "start": 0, "end": 14}, "tail": {"text": "cardiomyopathy", "start": 70, "end": 84}}]}}, "schema": []}
{"input": "The common translocation partners of 14q32/IGH were 11q13/CCND1 (five patients) and 16q23/MAF (four patients), followed in third place by 4p16/FGFR3 (one patient).", "output": {"entities": {"gene": [{"text": "MAF", "start": 90, "end": 93}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Although both HIV infections are associated with hyperimmune activation and CD4 (+) T-cell lymphopenia, most HIV-2-positive individuals display slower disease progression and low-to-undetectable viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 76, "end": 79}], "disease": [{"text": "viremia", "start": 195, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The results of this study suggest that moderate folate deficiency has a stronger effect on chromosomal instability than BRCA1 or BRCA2 mutations found in breast cancer families.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 129, "end": 134}], "disease": [{"text": "chromosomal instability", "start": 91, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care.", "output": {"entities": {"gene": [{"text": "EPHB4", "start": 22, "end": 27}], "disease": [{"text": "vein of Galen aneurysmal malformation", "start": 98, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPHB4", "start": 22, "end": 27}, "tail": {"text": "vein of Galen aneurysmal malformation", "start": 98, "end": 135}}]}}, "schema": []}
{"input": "Our data suggest that Adcy8 might encode a translational behavioral endophenotype of bipolar disorder.", "output": {"entities": {"gene": [{"text": "Adcy8", "start": 22, "end": 27}], "disease": [{"text": "bipolar disorder", "start": 85, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Adcy8", "start": 22, "end": 27}, "tail": {"text": "bipolar disorder", "start": 85, "end": 101}}]}}, "schema": []}
{"input": "The ratios of PRA/PRB mRNA were positively correlated with the IGF-I mRNA levels in leiomyoma from women in the secretory phase (r = 0. 732, p = 0. 002 < 0. 01), whereas the correlation between the level of PRB and IGF-I mRNA in leiomyomas was negative (r =-0. 573, p = 0. 025 < 0. 05).", "output": {"entities": {"gene": [{"text": "PRA", "start": 14, "end": 17}], "disease": [{"text": "leiomyoma", "start": 84, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The XRCC1 Arg194Trp polymorphism was significantly associated with HNC risk in studies that were adjusted for smoking and alcohol under the homozygous and heterozygote models.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 4, "end": 9}], "disease": [{"text": "smoking", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In the human studies, the RAGE level in the pulmonary edema fluid was significantly higher than the plasma level (p < 0. 0001).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 26, "end": 30}], "disease": [{"text": "pulmonary edema", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The development of genetically engineered mice with ablation of NF1, NF2, SMARCB1/INI1 or PRKAR1A has confirmed the key role these genes play in peripheral nerve sheath tumorigenesis.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 90, "end": 97}], "disease": [{"text": "tumorigenesis", "start": 169, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "In the ischemia-vulnerable CA1 neurons, BNIP3-positive granules were seen in the nucleus at 1 and 2 days, and these neurons were damaged at 3 and 7 days.", "output": {"entities": {"gene": [{"text": "CA1", "start": 27, "end": 30}], "disease": [{"text": "ischemia", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Moreover, hypersensitivity to orlistat-induced cytotoxicity was observed in MCF-7 breast cancer cells engineered to overexpress Her2/neu (MCF-7/Her2-18 cells), which exhibit a significant up-regulation of FAS expression and activity.", "output": {"entities": {"gene": [{"text": "Her2", "start": 128, "end": 132}], "disease": [{"text": "hypersensitivity", "start": 10, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Glutamate carboxypeptidase II gene expression in the human frontal and temporal lobe in schizophrenia.", "output": {"entities": {"gene": [{"text": "Glutamate carboxypeptidase II", "start": 0, "end": 29}], "disease": [{"text": "schizophrenia", "start": 88, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Glutamate carboxypeptidase II", "start": 0, "end": 29}, "tail": {"text": "schizophrenia", "start": 88, "end": 101}}]}}, "schema": []}
{"input": "CASPASE-1 expression and a relative increase in T (h) 1 transcripts in AT were strongly associated with insulin resistance and impairments in glucose homeostasis.", "output": {"entities": {"gene": [{"text": "CASPASE-1", "start": 0, "end": 9}], "disease": [{"text": "insulin resistance", "start": 104, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASPASE-1", "start": 0, "end": 9}, "tail": {"text": "insulin resistance", "start": 104, "end": 122}}]}}, "schema": []}
{"input": "These findings provide evidence for the role of MMP-7 in promoting the growth of cutaneous SCCs by shedding HB-EGF, and identify EGFR signalling as a potential therapeutic target in RDEB-associated SCC and unresectable sporadic cutaneous SCC.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 129, "end": 133}], "disease": [{"text": "sporadic", "start": 219, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "A small amount of normal splicing to give wild-type XPA protein is the likely molecular mechanism for the relatively mild clinical features of this patient.", "output": {"entities": {"gene": [{"text": "XPA", "start": 52, "end": 55}], "disease": [{"text": "mild", "start": 117, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "FOXO3 is a key downstream target of the PI3K-Akt pathway in response to cellular stimulation by growth factors or insulin and has been proposed as a bridge between ageing and tumor suppression.", "output": {"entities": {"gene": [{"text": "FOXO3", "start": 0, "end": 5}], "disease": [{"text": "ageing", "start": 164, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Binding of these antibodies to Dsg3 causes endocytosis of Dsg3 from the cell surface and results in the specific depletion of Dsg3 from desmosomes, an event linked to acantholysis in the epidermis.", "output": {"entities": {"gene": [{"text": "Dsg3", "start": 31, "end": 35}], "disease": [{"text": "acantholysis", "start": 167, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Then, we investigated AIF-1, TNF, and LT-alpha gene polymorphisms in 165 patients with type 1 diabetes, consisting of 90 patients with young-onset type 1 diabetes, 75 patients with adult-onset type 1 diabetes, and 200 control patients.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 41, "end": 51}], "disease": [{"text": "type 1 diabetes", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The above described findings indicate that Arg 399Gln polymorphism in the XRCC1 is associated with risk of lung adenocarcinoma but not with risk of squamous-cell carcinoma of the lung in non-smoking women.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 74, "end": 79}], "disease": [{"text": "smoking", "start": 191, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We further showed that FN1 inhibition blocks the TFCP2-induced increase in HCC cell aggression, and that overexpression of TFCP2 can rescue the effects of FN1 inhibition.", "output": {"entities": {"gene": [{"text": "HCC", "start": 75, "end": 78}], "disease": [{"text": "aggression", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.", "output": {"entities": {"gene": [{"text": "EPG5", "start": 45, "end": 49}], "disease": [{"text": "Vici syndrome", "start": 81, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPG5", "start": 45, "end": 49}, "tail": {"text": "Vici syndrome", "start": 81, "end": 94}}]}}, "schema": []}
{"input": "Activating missense mutations of the Gs alpha gene leading to overactivity of adenylyl cyclase have been identified in patients with McCune-Albright syndrome, but the mechanism leading to the specific development of fibrous dysplasia in bone has not been elucidated.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 40, "end": 50}], "disease": [{"text": "fibrous dysplasia", "start": 216, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "In this work, we studied the involvement of RANK-RANKL interaction in NK cell-mediated immunosurveillance of acute myeloid leukemia (AML).", "output": {"entities": {"gene": [{"text": "RANKL", "start": 49, "end": 54}], "disease": [{"text": "acute myeloid leukemia", "start": 109, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our findings define HS as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6.", "output": {"entities": {"gene": [{"text": "PEX6", "start": 103, "end": 107}], "disease": [{"text": "HS", "start": 35, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEX6", "start": 103, "end": 107}, "tail": {"text": "HS", "start": 35, "end": 37}}]}}, "schema": []}
{"input": "Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal.", "output": {"entities": {"gene": [{"text": "SOX3", "start": 66, "end": 70}], "disease": [{"text": "sex reversal", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "12 PJS-related nasal polyps, 1 carcinoma of the nasal cavity and 28 sporadic nasal polyps were analysed for loss of (wild type) STK11/LKB1, eosinophilia, squamous metaplasia, dysplasia and expression of cyclo-oxygenase 2 and p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 225, "end": 228}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The molecular changes in endemic EBV-related LEC have been fairly well studied and include both alterations in tumor suppressor genes and 1 report of high levels of microsatellite instability.", "output": {"entities": {"gene": [{"text": "LEC", "start": 45, "end": 48}], "disease": [{"text": "microsatellite instability", "start": 165, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Nrf2 disrupted (Nrf2 (-/-)) and wild-type mice were treated with LCA (125 mg · kg (-1) body weight) to induce liver injury.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 0, "end": 4}], "disease": [{"text": "body weight", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Regulation of two genes involved in tumor invasion, the matrix metalloproteinase (MMP)-1 and the tissue inhibitor of MMP (TIMP)-1, by activators of protein kinase C (PKC) or protein kinase A (PKA) was studied in MCF-7 mammary adenocarcinoma cells.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 122, "end": 126}], "disease": [{"text": "mammary adenocarcinoma", "start": 218, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Overproduction of the major antioxidant enzyme, glutathione peroxidase 1, caused seemingly beneficial changes in pancreatic PDX1 and UCP2, but eventually led to chronic hyperinsulinaemia by dysregulating islet insulin production and secretion.", "output": {"entities": {"gene": [{"text": "glutathione peroxidase 1", "start": 48, "end": 72}], "disease": [{"text": "hyperinsulinaemia", "start": 169, "end": 186}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutathione peroxidase 1", "start": 48, "end": 72}, "tail": {"text": "hyperinsulinaemia", "start": 169, "end": 186}}]}}, "schema": []}
{"input": "The outcome of acute hepatitis C is associated with efficient virus-specific CD4 T-cell response (s) without which HCV-specific CD8 T-cell and heterologous nAb responses may develop but fail to clear viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 77, "end": 80}], "disease": [{"text": "viremia", "start": 200, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer' s disease (N = 88), mild cognitive impairment (N = 32), subjective cognitive complaints (N = 54) and depression/other psychiatric disorders (N = 64).", "output": {"entities": {"gene": [{"text": "alpha-2 macroglobulin", "start": 56, "end": 77}], "disease": [{"text": "depression", "start": 416, "end": 426}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha-2 macroglobulin", "start": 56, "end": 77}, "tail": {"text": "depression", "start": 416, "end": 426}}]}}, "schema": []}
{"input": "Overexpression of IRG1 increased the growth, invasion, and tumorigenesis in U251 and SHG-44 glioma cells both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "IRG1", "start": 18, "end": 22}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "However, oxidative damage by H (2) O (2) or pretreatment of irradiated cells with N-acetyl cysteine (NAC) did not show any influence on these proteins, thereby indicating a radiation-specific change in the methylation patterns among meningioma cells.", "output": {"entities": {"gene": [{"text": "NAC", "start": 101, "end": 104}], "disease": [{"text": "meningioma", "start": 233, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "CT7", "start": 87, "end": 90}], "disease": [{"text": "esophageal", "start": 175, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In human gastric cancer specimens, NRP-2 expression was detected in tumor tissues but not in adjacent normal mucosa.", "output": {"entities": {"gene": [{"text": "NRP", "start": 35, "end": 38}], "disease": [{"text": "gastric cancer", "start": 9, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In solid tumors, leukemias, and lymphomas, increased frequencies of functional CD4 + CD25 (high) regulatory T cells (T (reg) cells) have been previously demonstrated.", "output": {"entities": {"gene": [{"text": "CD4", "start": 79, "end": 82}], "disease": [{"text": "leukemias", "start": 17, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Screening for the FIG-ROS1 fusion in biliary tract carcinomas by nested PCR.", "output": {"entities": {"gene": [{"text": "FIG", "start": 18, "end": 21}], "disease": [{"text": "carcinomas", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "GFAP-Cre-mediated transgenic activation of Bmi1 results in pituitary tumors.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 0, "end": 4}], "disease": [{"text": "pituitary tumors", "start": 59, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Progressive increase in the intensity of c-Myc expression from chronic hepatitis to cirrhosis to HCC may refer to its role as a multistep regulator of hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 97, "end": 100}], "disease": [{"text": "chronic hepatitis", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Using next-generation sequencing technology, we set up a multiple polymerase chain reaction enrichment system for target regions of EVA pathogenic genes (SLC26A4, FOXI1, and KCNJ10).", "output": {"entities": {"gene": [{"text": "FOXI1", "start": 163, "end": 168}], "disease": [{"text": "EVA", "start": 132, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FOXI1", "start": 163, "end": 168}, "tail": {"text": "EVA", "start": 132, "end": 135}}]}}, "schema": []}
{"input": "The effect of clozapine on CLC-4 expression was examined in neuroblastoma (SH-SY5Y) and glioma (U87) cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 96, "end": 99}], "disease": [{"text": "neuroblastoma", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Several curcumin analogues (A10, B10, C10, E10 and F10) with different linker groups were investigated for their effects in human prostate cancer CWR‑22Rv1 and LNCaP cell lines.", "output": {"entities": {"gene": [{"text": "F10", "start": 51, "end": 54}], "disease": [{"text": "prostate cancer", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Immunohistological staining of the liver revealed that the number of HGF-positive cells increased remarkably during the fulminant hepatitis phase, and that many of these cells were localized at the portal triads.", "output": {"entities": {"gene": [{"text": "HGF", "start": 69, "end": 72}], "disease": [{"text": "fulminant hepatitis", "start": 120, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Despite studies suggesting a role for HSP90alpha in tumorigenesis, there are no reports as to its expression in normal human brain tissue.", "output": {"entities": {"gene": [{"text": "HSP90alpha", "start": 38, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, ATP7B mRNA and protein expression in colorectal tumors is associated with clinical outcome to oxaliplatin/5FU.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 15, "end": 20}], "disease": [{"text": "colorectal tumors", "start": 52, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP7B", "start": 15, "end": 20}, "tail": {"text": "colorectal tumors", "start": 52, "end": 69}}]}}, "schema": []}
{"input": "These examinations included antithrombin, protein C, protein S, plasminogen, heparin cofactor II, activated protein C ratio, factor V Leiden mutation, fibrinogen, factors VIII and XII, euglobulin lysis time, 677 C--> T mutation of methylenetetrahydrofolate reductase (MTHFR), prothrombin 20210 (PT 20210) A allele mutation, lupus anticoagulant, anticardiolipin antibody, and complete blood count.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 268, "end": 273}], "disease": [{"text": "lupus anticoagulant", "start": 324, "end": 343}]}, "relations": {}}, "schema": []}
{"input": "Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined.", "output": {"entities": {"gene": [{"text": "SGCD", "start": 131, "end": 135}], "disease": [{"text": "lattice corneal dystrophy type 1", "start": 184, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "By genetic linkage analysis, several retinal dystrophies including one form of autosomal dominant Stargardt-like macular dystrophy (STGD3), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1) have previously been localised to a region on proximal 6q that overlaps the IMPG1 locus.", "output": {"entities": {"gene": [{"text": "IMPG1", "start": 312, "end": 317}], "disease": [{"text": "retinal dystrophies", "start": 37, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry detected HLA-DR, CD80, and CD86 expression and enzyme-linked immunosorbent assay detected interferon-γ (IFNγ) in esophageal biopsies.", "output": {"entities": {"gene": [{"text": "CD80", "start": 38, "end": 42}], "disease": [{"text": "esophageal", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to investigate the expression, proliferation, and apoptosis function of long-chain non-coding RNA maternally expressed gene 3 (MEG3) and antisense non-coding RNA at the INK4 locus (ANRIL) in gallbladder cancer (GBC) tissues.", "output": {"entities": {"gene": [{"text": "ANRIL", "start": 213, "end": 218}], "disease": [{"text": "gallbladder cancer", "start": 223, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4.", "output": {"entities": {"gene": [{"text": "TSEN2", "start": 75, "end": 80}], "disease": [{"text": "pontocerebellar hypoplasia", "start": 123, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TSEN2", "start": 75, "end": 80}, "tail": {"text": "pontocerebellar hypoplasia", "start": 123, "end": 149}}]}}, "schema": []}
{"input": "Resistin greatly increased hepatocyte VLDL apoB and lipid secretion because of MTP activation and induction of hepatocyte insulin resistance.", "output": {"entities": {"gene": [{"text": "MTP", "start": 79, "end": 82}], "disease": [{"text": "insulin resistance", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 37, "end": 41}], "disease": [{"text": "Multiple endocrine neoplasia type 1", "start": 0, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 37, "end": 41}, "tail": {"text": "Multiple endocrine neoplasia type 1", "start": 0, "end": 35}}]}}, "schema": []}
{"input": "gp91phox correlated with the plaque macrophage content, whereas Nox4 correlated with the content of alpha-actin-positive cells.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 64, "end": 68}], "disease": [{"text": "plaque", "start": 29, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether increasing NCAM expression alters invasive behavior, retroviruses encoding human NCAM 140 and a cytoplasmic truncation of NCAM 140 were used to transduce a population of CNS-1 glioma cells that had a relatively low endogenous level of NCAM.", "output": {"entities": {"gene": [{"text": "NCAM", "start": 34, "end": 38}], "disease": [{"text": "glioma", "start": 199, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing.", "output": {"entities": {"gene": [{"text": "Lamin A", "start": 0, "end": 7}], "disease": [{"text": "ageing", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The R1alpha protein and PRKAR1A mRNA have been found to be up-regulated in a series of cell lines and human and rodent neoplasms, suggesting this molecule' s involvement in tumorigenesis and its potential role in cell cycle regulation, growth, and/or proliferation.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 24, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.", "output": {"entities": {"gene": [{"text": "HRD", "start": 114, "end": 117}], "disease": [{"text": "Sanjad-Sakati syndrome", "start": 121, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRD", "start": 114, "end": 117}, "tail": {"text": "Sanjad-Sakati syndrome", "start": 121, "end": 143}}]}}, "schema": []}
{"input": "Validation of differential expression of a subset of genes by real-time quantitative RT-PCR (real-time QRT-PCR) in clinical specimens of ESCC, esophageal dysplasia and histologically nonmalignant esophageal tissues and immunohistochemical analysis using tissue microarrays confirmed the microarray data and demonstrated upregulation of zinc finger proteins, cellular modulator of immune recognition (c-MIR), snail homolog 2 (SLUG), zinc transporter, ZnT7 and downregulation of zinc metabolizing protein, metallothionein MT1G.", "output": {"entities": {"gene": [{"text": "ZnT7", "start": 450, "end": 454}], "disease": [{"text": "esophageal", "start": 143, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 42, "end": 46}], "disease": [{"text": "aniridia", "start": 66, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 42, "end": 46}, "tail": {"text": "aniridia", "start": 66, "end": 74}}]}}, "schema": []}
{"input": "HEK 293 cells were exposed in vitro to hypoxia/reoxygenation (H/R), which increased SGK1 transcript levels, SGK1 protein abundance and SGK1 phosphorylation.", "output": {"entities": {"gene": [{"text": "SGK1", "start": 84, "end": 88}], "disease": [{"text": "hypoxia", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In cervical adenocarcinoma, patients with higher PCNA index tumor (> or = 40. 2%) showed a significantly greater decrease in tumor volume than those with lower PCNA index (P < 0. 05).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 49, "end": 53}], "disease": [{"text": "cervical adenocarcinoma", "start": 3, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that IL13 SNPs (promoter and coding region) and, to a lesser extent, IL4RA SNPs may contribute to atopy and asthma.", "output": {"entities": {"gene": [{"text": "IL13", "start": 24, "end": 28}], "disease": [{"text": "atopy", "start": 117, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Essential hypertension was defined as a systolic blood pressure (SBP) greater than 160 mm Hg and/or a diastolic blood pressure (DBP) greater than 90 mm Hg or use of any antihypertensive treatment by participants.", "output": {"entities": {"gene": [{"text": "DBP", "start": 128, "end": 131}], "disease": [{"text": "systolic blood pressure", "start": 40, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Phosphodiesterase-4 (PDE4), an enzyme that catalyzes the hydrolysis of cyclic AMP and plays a critical role in controlling its intracellular concentration, has been implicated in depression-and anxiety-like behaviors.", "output": {"entities": {"gene": [{"text": "AMP", "start": 78, "end": 81}], "disease": [{"text": "depression", "start": 179, "end": 189}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 78, "end": 81}, "tail": {"text": "depression", "start": 179, "end": 189}}]}}, "schema": []}
{"input": "Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 79, "end": 83}], "disease": [{"text": "Ollier disease", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH1", "start": 79, "end": 83}, "tail": {"text": "Ollier disease", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "These results support the notion that huntingtin participates in anxiety and depression-like behavior and is thus relevant to the etiology of mood disorders and anxiety/depression in HD.", "output": {"entities": {"gene": [{"text": "huntingtin", "start": 38, "end": 48}], "disease": [{"text": "mood disorders", "start": 142, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "huntingtin", "start": 38, "end": 48}, "tail": {"text": "mood disorders", "start": 142, "end": 156}}]}}, "schema": []}
{"input": "Our objective was to investigate whether E (2) affected the activity and expression of constitutive nitric oxide synthase (NOS) isoforms (NOS3 and NOS1) in cardiac hypertrophy induced by thoracic aortic constriction (TAC).", "output": {"entities": {"gene": [{"text": "NOS1", "start": 147, "end": 151}], "disease": [{"text": "constriction", "start": 203, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "In B-cell neoplasia, TCL1 was expressed in the majority of the cases, including lymphoblastic lymphoma, chronic lymphocytic leukemia, mantle cell lymphoma, follicular lymphoma, Burkitt lymphoma, diffuse large B-cell lymphoma (60%), and primary cutaneous B cell lymphoma (55%).", "output": {"entities": {"gene": [{"text": "TCL1", "start": 21, "end": 25}], "disease": [{"text": "lymphoma, diffuse", "start": 185, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Germ line mutations in three genes have been detected in patients with familial Alzheimer' s disease (FAD) and sporadic, early onset disease: amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2).", "output": {"entities": {"gene": [{"text": "FAD", "start": 102, "end": 105}], "disease": [{"text": "sporadic", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Focusing on PRL-1 and PRL-2, high levels of both proteins were detected in a subset of pancreatic cancer cell lines and tumor samples using Western blotting and immunohistochemistry, respectively.", "output": {"entities": {"gene": [{"text": "PRL-2", "start": 22, "end": 27}], "disease": [{"text": "pancreatic cancer", "start": 87, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Fungal infections with Curvularia lunata and Aspergillus fumigatus were typically confined to the airway during allergic inflammation but became locally invasive and disseminated to the brain at higher conidium challenge doses, in association with predominant Th1 responses.", "output": {"entities": {"gene": [{"text": "Th1", "start": 260, "end": 263}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "HRec-positive BRCA1-and BRCA2-associated patients had a sensitivity to taxane chemotherapy similar to that of sporadic patients.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 24, "end": 29}], "disease": [{"text": "sporadic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We describe a 15-year-old Caucasian female with a SCCOHT harboring a previously unreported somatic mutation in the SMARCA4 gene (c. 1757delA; p. K586. fs) with loss of heterozygosity.", "output": {"entities": {"gene": [{"text": "SMARCA4 gene", "start": 115, "end": 127}], "disease": [{"text": "somatic mutation", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Cellular oxidative stress, DNA binding activity of redox-responsive transcription factors (AP-1, NF-kappaB and CREB) as well as mRNA levels of inflammatory genes (MCP-1 and TNF-alpha) were determined in the thoracic and lumbar regions of the spinal cords.", "output": {"entities": {"gene": [{"text": "CREB", "start": 111, "end": 115}], "disease": [{"text": "thoracic", "start": 207, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis reveals that phosphorylation of Akt/protein kinase B (PKB) and to a lesser extent the mitogen-activated protein kinase extracellular signal-regulated kinase (ERK) 1/2, both essentially involved in Ang II-mediated hypertrophy, is dose dependently reduced by RV.", "output": {"entities": {"gene": [{"text": "PKB", "start": 76, "end": 79}], "disease": [{"text": "hypertrophy", "start": 235, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "However, the expression of myostatin in chronic heart failure resulting from volume-overload and after treatment with beta-blockers is little known.", "output": {"entities": {"gene": [{"text": "myostatin", "start": 27, "end": 36}], "disease": [{"text": "chronic heart failure", "start": 40, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myostatin", "start": 27, "end": 36}, "tail": {"text": "chronic heart failure", "start": 40, "end": 61}}]}}, "schema": []}
{"input": "Measurement of resting cytosolic Ca2 + concentrations and Ca2 + store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2 + release channels.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 33, "end": 36}], "disease": [{"text": "malignant hyperthermia", "start": 109, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We observed a decreased risk of NHL over-all with BHMTEx8 + 453A & gt; T and increased risk with CBS Ex13 + 41C & gt; T, FPGS Ex15-263T & gt; C, and SHMT1 Ex12 + 138C & gt; T and Ex12 + 236C & gt; T.", "output": {"entities": {"gene": [{"text": "FPGS", "start": 121, "end": 125}], "disease": [{"text": "NHL", "start": 32, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FPGS", "start": 121, "end": 125}, "tail": {"text": "NHL", "start": 32, "end": 35}}]}}, "schema": []}
{"input": "The aims of this study were to investigate the effect of seminal plasma and PGE2 on the expression of COX-2 and expression and signalling of the PGE2 receptor subtypes (EP1-EP4) in HeLa (cervical adenocarcinoma) cells.", "output": {"entities": {"gene": [{"text": "EP4", "start": 173, "end": 176}], "disease": [{"text": "cervical adenocarcinoma", "start": 187, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Some FA gene products involved in redox homeostasis can be summarized as follows: (a) FANCA, FANCC, and FANCG interact with cytochrome P450-related activities and/or respond to oxidative damage; (b) FANCD2 in OS response interacts with forkhead box O3 and ataxia telangiectasia mutated protein; (c) FANCG is found in mitochondria and interacts with PRDX3, and FA-G cells display distorted mitochondria and decreased peroxidase activity; (d) FANCJ (BACH1/BRIP1) is a repressor of haeme oxygenase-1 gene and senses oxidative base damage; (e) antioxidants, such as tempol and resveratrol decrease cancer incidence and haematopoietic defects in Fancd2 (-/-) mice.", "output": {"entities": {"gene": [{"text": "BRIP1", "start": 454, "end": 459}], "disease": [{"text": "telangiectasia", "start": 263, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "HLA-DRB1 * 08 allele may be the susceptible risk gene for pneumoconiosis.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 0, "end": 8}], "disease": [{"text": "pneumoconiosis", "start": 58, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.", "output": {"entities": {"gene": [{"text": "LMAN1", "start": 78, "end": 83}], "disease": [{"text": "Combined deficiency of factor V and factor VIII", "start": 0, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMAN1", "start": 78, "end": 83}, "tail": {"text": "Combined deficiency of factor V and factor VIII", "start": 0, "end": 47}}]}}, "schema": []}
{"input": "Compared to parental virus infection in macaques, primary viremia was reduced by > 1, 000-fold to undetectable levels, with little sign of an increase of cycling cells in lymph nodes, CD4 (+) depletion, or altered T-cell activation markers in peripheral blood.", "output": {"entities": {"gene": [{"text": "CD4", "start": 184, "end": 187}], "disease": [{"text": "viremia", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "] and basal cell carcinoma [BCS]) of the human skin was analyzed immunohistochemically and biochemically to characterize the features associated with malignancy.", "output": {"entities": {"gene": [{"text": "BCS", "start": 28, "end": 31}], "disease": [{"text": "basal cell carcinoma", "start": 6, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "ECs and SMCs cultured from human blood vessels or cells lines (human microvascular endothelial cell line and human telomerase reverse transcriptase subunit SMC) were infected with adenovirus containing DNA from wild-type hsp27, hyper-phosphorylated hsp27 mimic (3D hsp27), hypo-phosphorylated hsp27 mimic (3A hsp27) or anti-sense hsp27, and proliferation measured over the next 5 days.", "output": {"entities": {"gene": [{"text": "hsp27", "start": 221, "end": 226}], "disease": [{"text": "adenovirus", "start": 180, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "It should be noted that there was no intact BCOR found in the 45,-Y, t (X; 17) (p11; q12) APL cells because they featured only a rearranged X chromosome.", "output": {"entities": {"gene": [{"text": "BCOR", "start": 44, "end": 48}], "disease": [{"text": "APL", "start": 90, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCOR", "start": 44, "end": 48}, "tail": {"text": "APL", "start": 90, "end": 93}}]}}, "schema": []}
{"input": "In hypothermia, this induction appeared already after 18 h. Following normothermic ischemia, nuclear PCNA immunoreactivity was largely abolished during reperfusion in the vulnerable CA1 neurons, prior to cell death.", "output": {"entities": {"gene": [{"text": "CA1", "start": 182, "end": 185}], "disease": [{"text": "ischemia", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that COCH mutations are unlikely to cause abnormalities in secretion and suggest that extracellular events might cause DFNA9 pathology.", "output": {"entities": {"gene": [{"text": "COCH", "start": 26, "end": 30}], "disease": [{"text": "DFNA9", "start": 140, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COCH", "start": 26, "end": 30}, "tail": {"text": "DFNA9", "start": 140, "end": 145}}]}}, "schema": []}
{"input": "MRP4 expression was increased in pulmonary arteries from patients with idiopathic PAH as well as in WT mice exposed to hypoxic conditions.", "output": {"entities": {"gene": [{"text": "MRP4", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Björnstad syndrome, GRACILE syndrome and a syndrome of neonatal tubulopathy, encephalopathy, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency.", "output": {"entities": {"gene": [{"text": "GRACILE syndrome", "start": 142, "end": 158}], "disease": [{"text": "liver failure", "start": 219, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Several of these proteins, such as TMbeta, HSP70, annexin I, calreticulin, TPM4-ALK and isoforms of myosins, have been well recognized in tumorigenesis of esophageal or other types of cancers.", "output": {"entities": {"gene": [{"text": "annexin I", "start": 50, "end": 59}], "disease": [{"text": "tumorigenesis", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.", "output": {"entities": {"gene": [{"text": "multidrug resistance 3", "start": 21, "end": 43}], "disease": [{"text": "neonatal cholestasis", "start": 61, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "AKT1 and AKT2 protein levels were measured in post-mortem brain tissues from ante-mortem diagnosed schizophrenia (n = 30) and bipolar disorder subjects (n = 12) and matched controls.", "output": {"entities": {"gene": [{"text": "AKT2", "start": 9, "end": 13}], "disease": [{"text": "bipolar disorder", "start": 126, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT2", "start": 9, "end": 13}, "tail": {"text": "bipolar disorder", "start": 126, "end": 142}}]}}, "schema": []}
{"input": "The presenting clinical features of CD11c + CD5 + B-cell leukemias were most consistent with CLL or PLL, and none of the evaluated cases had pancytopenia, splenomegaly, and cytoplasmic villi characteristic of HCL.", "output": {"entities": {"gene": [{"text": "CD5", "start": 44, "end": 47}], "disease": [{"text": "pancytopenia", "start": 141, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "However, the frequency of one C4B * Q0 allele was three times higher, and that of two C4B * Q0 alleles five times higher in the vitiligo patient group than the reported frequencies in normal control groups.", "output": {"entities": {"gene": [{"text": "C4B", "start": 30, "end": 33}], "disease": [{"text": "vitiligo", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "This new phased-array ICE catheter may be a useful clinical tool for the diagnosis of heart failure, ischemia, tamponade, and pulmonary embolism.", "output": {"entities": {"gene": [{"text": "ICE", "start": 22, "end": 25}], "disease": [{"text": "pulmonary embolism", "start": 126, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The fully adjusted model with plasma TNF-alpha failed to show significant main effects for smoking and genotype, as well as for the smoking-status-genotype interaction.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 37, "end": 46}], "disease": [{"text": "smoking", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We report a novel heterozygous frameshift mutation (c. 3151dupA) and a CNV in PIKFYVE, representing the first CNV and the fifth frameshift mutation associated with FCD.", "output": {"entities": {"gene": [{"text": "PIKFYVE", "start": 78, "end": 85}], "disease": [{"text": "FCD", "start": 164, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIKFYVE", "start": 78, "end": 85}, "tail": {"text": "FCD", "start": 164, "end": 167}}]}}, "schema": []}
{"input": "Furthermore, subtoxic doses of bepridil and cibenzoline, two other anti-arrhythmic drugs with NCX-inhibitor activity, also sensitized glioma cells to TRAIL-mediated apoptosis, via the upregulation of both CHOP and DR5.", "output": {"entities": {"gene": [{"text": "NCX", "start": 94, "end": 97}], "disease": [{"text": "glioma", "start": 134, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We devised a new strategy for the AFP TRE to control an artificial E1A-IRES-E1B bicistronic cassette in an adenovirus 5 vector (Ad5) and constructed an HCC-specific oncolytic virus, CV890.", "output": {"entities": {"gene": [{"text": "HCC", "start": 152, "end": 155}], "disease": [{"text": "adenovirus", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the effects of hepatocyte growth factor (HGF) on the prevention of scar formation and the promotion of wound healing by gene transfer.", "output": {"entities": {"gene": [{"text": "HGF", "start": 53, "end": 56}], "disease": [{"text": "scar", "start": 79, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial respiratory chain, have been identified, the molecular mechanisms leading to tumorigenesis are unknown.", "output": {"entities": {"gene": [{"text": "SDHC", "start": 31, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 212, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "All the juvenile lines were found to have normal or reduced levels of pre beta-chain mRNA and no gross abnormalities in the HEXB gene.", "output": {"entities": {"gene": [{"text": "HEXB gene", "start": 124, "end": 133}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In particular, p53 appears to have important functions as it relates to neurodegeneration and synaptic plasticity.", "output": {"entities": {"gene": [{"text": "p53", "start": 15, "end": 18}], "disease": [{"text": "neurodegeneration", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "PAR-2 inhibition reverses experimental pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "PAR", "start": 0, "end": 3}], "disease": [{"text": "pulmonary hypertension", "start": 39, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We previously reported preliminary results of association of clozapine-induced agranulocytosis (CA) with HLA-B38, DR4, DQ3 in five Ashkenazi Jewish patients and with HLA-DR2, DQ1 in four non-Jewish patients.", "output": {"entities": {"gene": [{"text": "DR4", "start": 114, "end": 117}], "disease": [{"text": "agranulocytosis", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci.", "output": {"entities": {"gene": [{"text": "IL2RA", "start": 107, "end": 112}], "disease": [{"text": "uveitis", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "All methylation positive HCC, cirrhosis, and chronic hepatitis samples showed loss of p16 expression, and a significant correlation was found between methylation and loss of expression.", "output": {"entities": {"gene": [{"text": "HCC", "start": 25, "end": 28}], "disease": [{"text": "chronic hepatitis", "start": 45, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel BLM missense mutation (2706T & gt; C) in a Moroccan patient with Bloom' s syndrome.", "output": {"entities": {"gene": [{"text": "BLM", "start": 26, "end": 29}], "disease": [{"text": "Bloom' s syndrome", "start": 91, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLM", "start": 26, "end": 29}, "tail": {"text": "Bloom' s syndrome", "start": 91, "end": 108}}]}}, "schema": []}
{"input": "Ectopic expression of ING4 suppressed MYC-induced mammary hyperplasia, but not tumorigenesis.", "output": {"entities": {"gene": [{"text": "ING4", "start": 22, "end": 26}], "disease": [{"text": "hyperplasia", "start": 58, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "To investigate the possible association between tumor necrosis factor alpha (TNF-alpha)-308 G/A polymorphism and pseudoexfoliation (PEX) glaucoma.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 77, "end": 86}], "disease": [{"text": "pseudoexfoliation", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable.", "output": {"entities": {"gene": [{"text": "MSX2", "start": 53, "end": 57}], "disease": [{"text": "PFM", "start": 17, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSX2", "start": 53, "end": 57}, "tail": {"text": "PFM", "start": 17, "end": 20}}]}}, "schema": []}
{"input": "Trim62 was expressed in myocytes, and its overexpression activated the atrophy-inducing activator protein 1 signal transduction pathway.", "output": {"entities": {"gene": [{"text": "activator protein 1", "start": 88, "end": 107}], "disease": [{"text": "atrophy", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The results, in conjunction with the previous findings, suggest that mesomelic skeletal features such as Langer mesomelic dysplasia and LWDC, which are absent or rare in Turner syndrome, are primarily caused by the SHOX dosage effect and the bone maturing effect of gonadal estrogens, whereas other skeletal features such as short metacarpals, cubitus valgus, and various craniofacial and cervical skeletal stigmata, which are common in Turner syndrome, are largely contributed by a compressive effect of distended lymphatics and lymphedema on the developing skeletal tissues.", "output": {"entities": {"gene": [{"text": "SHOX", "start": 215, "end": 219}], "disease": [{"text": "Langer mesomelic dysplasia", "start": 105, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SHOX", "start": 215, "end": 219}, "tail": {"text": "Langer mesomelic dysplasia", "start": 105, "end": 131}}]}}, "schema": []}
{"input": "In both women, DNA from chorionic villus sampling, performed after high-risk aneuploidy screening, showed the fetus had inherited the GCK mutation.", "output": {"entities": {"gene": [{"text": "GCK", "start": 134, "end": 137}], "disease": [{"text": "aneuploidy", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Family-based association analyses demonstrated that SNPs in both GABRR1 and GABRR2 were significantly associated with alcohol dependence.", "output": {"entities": {"gene": [{"text": "GABRR1", "start": 65, "end": 71}], "disease": [{"text": "alcohol dependence", "start": 118, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRR1", "start": 65, "end": 71}, "tail": {"text": "alcohol dependence", "start": 118, "end": 136}}]}}, "schema": []}
{"input": "However, somatic mutations of BRCA2 are extremely rare in sporadic cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 30, "end": 35}], "disease": [{"text": "sporadic", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "BHY, a bone-invasive oral cancer cell line, but not HNT, a noninvasive cell line, produced large amounts of IL-6.", "output": {"entities": {"gene": [{"text": "HNT", "start": 52, "end": 55}], "disease": [{"text": "oral cancer", "start": 21, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "To determine if the (tttta) (n) repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain.", "output": {"entities": {"gene": [{"text": "CYP11a", "start": 78, "end": 84}], "disease": [{"text": "hirsutism", "start": 109, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.", "output": {"entities": {"gene": [{"text": "Aspartoacylase", "start": 74, "end": 88}], "disease": [{"text": "Canavan Disease", "start": 34, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Aspartoacylase", "start": 74, "end": 88}, "tail": {"text": "Canavan Disease", "start": 34, "end": 49}}]}}, "schema": []}
{"input": "MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.", "output": {"entities": {"gene": [{"text": "TGFA", "start": 16, "end": 20}], "disease": [{"text": "tooth agenesis", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 0, "end": 4}], "disease": [{"text": "Malouf syndrome", "start": 167, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 0, "end": 4}, "tail": {"text": "Malouf syndrome", "start": 167, "end": 182}}]}}, "schema": []}
{"input": "In contrast, conditional inactivation of Fig4 in Schwann cells causes demyelination and defects in autophagy-mediated degradation.", "output": {"entities": {"gene": [{"text": "Fig4", "start": 41, "end": 45}], "disease": [{"text": "demyelination", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Hematologic toxicity such as neutropenia, thrombocytopenia, and anemia were not different by the three tSNPs or haplotypes (CGT, CAT, and CAC) of DCK.", "output": {"entities": {"gene": [{"text": "DCK", "start": 146, "end": 149}], "disease": [{"text": "anemia", "start": 64, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "No methylated p16 sequences were detected in the peripheral plasma/serum of the six HCC cases without these changes in the tumor, in 38 patients with chronic hepatitis/cirrhosis, or in 10 healthy control subjects.", "output": {"entities": {"gene": [{"text": "HCC", "start": 84, "end": 87}], "disease": [{"text": "chronic hepatitis", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Regarding other fibrosis-associated genes (BMP-6, SMAD-3, CASP-3 and CASP-9, FASLG, NF-KB1, IL-1 and IL-2) as well as cellularity and cellular composition, no significant differences between obliterative airway remodelling in transplanted and non-transplanted patients could be shown.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 101, "end": 105}], "disease": [{"text": "fibrosis", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Total RNA isolated from frozen tendon samples (normal n = 14; chronic painful tendinopathy n = 10; ruptured n = 8) was assayed by relative quantitative reverse transcriptase polymerase chain reaction (RT-PCR) for total versican, versican variants V0, V1, V2, V3 and type I collagen alpha1 mRNA, normalized to glyceraldehyde-3-phosphate dehydrogenase (GAPDH).", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 351, "end": 356}], "disease": [{"text": "painful", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Xanthine oxidoreductase has been proposed to play a role in the development of local and systemic effects of acute pancreatitis.", "output": {"entities": {"gene": [{"text": "Xanthine oxidoreductase", "start": 0, "end": 23}], "disease": [{"text": "acute pancreatitis", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "To study the expression of mRNA for Kit ligand 1 (KL1), KL2, FSH receptor (FSHR), pregnancy-associated plasma protein (PAPP) and P450 in granulosa-lutein cells from IVF patients and its relationship with the infertility diagnosis and IVF outcome.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 75, "end": 79}], "disease": [{"text": "infertility", "start": 208, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Male mice lacking GRTH are sterile, with spermatogenic arrest owing to the failure of round spermatids to elongate.", "output": {"entities": {"gene": [{"text": "GRTH", "start": 18, "end": 22}], "disease": [{"text": "sterile", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "TRH and MK-771 offset the narcosis induced by pentobarbital in mice, whereas the C-terminal free acid derived from TRH, melanostatin, somatostatin and pyroglutamyl-histidineamide have been found inactive.", "output": {"entities": {"gene": [{"text": "TRH", "start": 0, "end": 3}], "disease": [{"text": "narcosis", "start": 26, "end": 34}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 0, "end": 3}, "tail": {"text": "narcosis", "start": 26, "end": 34}}]}}, "schema": []}
{"input": "Differential gene expression profile reveals overexpression of MAP3K8 in invasive endometrioid carcinoma.", "output": {"entities": {"gene": [{"text": "MAP3K8", "start": 63, "end": 69}], "disease": [{"text": "endometrioid carcinoma", "start": 82, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Patterns of GATA3 and IL13 gene polymorphisms associated with childhood rhinitis and atopy in a birth cohort.", "output": {"entities": {"gene": [{"text": "IL13 gene", "start": 22, "end": 31}], "disease": [{"text": "atopy", "start": 85, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Intranasal administration of adenovirus expressing IL-17, IL-17C, or IL-17F resulted in bronchoalveolar lavage neutrophilia and inflammatory gene expression in the lung.", "output": {"entities": {"gene": [{"text": "IL-17C", "start": 58, "end": 64}], "disease": [{"text": "neutrophilia", "start": 111, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry for IMP3, CK8/18, and CK14 was performed on 39 cases of invasive breast carcinomas with BRCA mutation (24 BRCA1, 14 BRCA2, and 1 dual BRCA1/BRCA2) and 54 cases of sporadic invasive breast carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 137, "end": 142}], "disease": [{"text": "sporadic", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Hereditary BRCA1, BRCA2, and non-BRCA1/2 tumors were characterized by shorter TL comparing to sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 18, "end": 23}], "disease": [{"text": "sporadic", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 22, "end": 28}], "disease": [{"text": "atopy", "start": 105, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.", "output": {"entities": {"gene": [{"text": "transthyretin", "start": 46, "end": 59}], "disease": [{"text": "lung tumor", "start": 123, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transthyretin", "start": 46, "end": 59}, "tail": {"text": "lung tumor", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "NGF is also considered to be an inflammatory mediator associated with pain, itch and inflammation in adults.", "output": {"entities": {"gene": [{"text": "NGF", "start": 0, "end": 3}], "disease": [{"text": "itch", "start": 76, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "An inverse relationship between PPT-A mRNA expression levels and lifetime antipsychotic treatment (Fluphenazine) in the schizophrenic and bipolar disorder groups was found.", "output": {"entities": {"gene": [{"text": "PPT", "start": 32, "end": 35}], "disease": [{"text": "bipolar disorder", "start": 138, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPT", "start": 32, "end": 35}, "tail": {"text": "bipolar disorder", "start": 138, "end": 154}}]}}, "schema": []}
{"input": "The beta1-and beta2-adrenergic receptors (betaARs) on the surface of cardiomyocytes mediate distinct effects on cardiac function and the development of heart failure by regulating production of the second messenger cyclic adenosine monophosphate (cAMP).", "output": {"entities": {"gene": [{"text": "beta2", "start": 14, "end": 19}], "disease": [{"text": "heart failure", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "No satisfactory explanation for this epidemic is known, but it has been proposed that some facets of modern life tend to bias immune responses away from the Th1 cellular immune responses that protect against many infections and toward Th2 responses that favor atopy.", "output": {"entities": {"gene": [{"text": "Th1", "start": 157, "end": 160}], "disease": [{"text": "atopy", "start": 260, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Based on our finding that thiazolidinediones suppress beta-catenin and cyclin D1 by up-regulating the E3 ligase SCF (beta-TrCP), we hypothesized that beta-transducin repeat-containing protein (beta-TrCP) targets Sp1 for proteasomal degradation in response to glucose starvation or OSU-CG12.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 71, "end": 80}], "disease": [{"text": "starvation", "start": 267, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis.", "output": {"entities": {"gene": [{"text": "LEMD3", "start": 43, "end": 48}], "disease": [{"text": "BOS", "start": 129, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LEMD3", "start": 43, "end": 48}, "tail": {"text": "BOS", "start": 129, "end": 132}}]}}, "schema": []}
{"input": "The homologous regulation of hNPFF2 receptor correlates with our previous results in vivo showing that during inflammation, the up-regulation of neuropeptide FF mRNA precedes that of NPFF2 receptor.", "output": {"entities": {"gene": [{"text": "NPFF2", "start": 30, "end": 35}], "disease": [{"text": "inflammation", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Apart from the M1/M2 gene analysis, we demonstrate that the expression of Gpnmb and Spp1 is highly upregulated in both murine and human glioma-associated microglia/macrophages.", "output": {"entities": {"gene": [{"text": "Spp1", "start": 84, "end": 88}], "disease": [{"text": "glioma", "start": 136, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "A rat model of 30 min splanchnic arterial occlusion (SAO) was used to study the degradation of two mucin isoforms (mucin 2 and 13) and two epithelial membrane proteins (E-cadherin and toll-like receptor 4, TLR4).", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 169, "end": 179}], "disease": [{"text": "arterial occlusion", "start": 33, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "There was no cross-sectional or longitudinal association between paraoxonase enzyme activity and coronary artery calcification (CAC), an early marker of cardiovascular disease, or its progression over 5 years.", "output": {"entities": {"gene": [{"text": "CAC", "start": 128, "end": 131}], "disease": [{"text": "coronary artery calcification", "start": 97, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "However, the effect of hyperthermia on EMT of cancer cells is unknown.", "output": {"entities": {"gene": [{"text": "EMT", "start": 39, "end": 42}], "disease": [{"text": "hyperthermia", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of IGF-IR transgene in MTB-IGFIR tumor-bearing mice leads to the regression of most of the tumors, followed by tumor reappearance in some of the mice.", "output": {"entities": {"gene": [{"text": "IGF", "start": 18, "end": 21}], "disease": [{"text": "regression", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The mutation, Phe229Leu in the EFHC1 gene was previously shown, in a carrier state, to be associated with juvenile myoclonic epilepsy.", "output": {"entities": {"gene": [{"text": "EFHC1", "start": 31, "end": 36}], "disease": [{"text": "juvenile myoclonic epilepsy", "start": 106, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFHC1", "start": 31, "end": 36}, "tail": {"text": "juvenile myoclonic epilepsy", "start": 106, "end": 133}}]}}, "schema": []}
{"input": "A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 29, "end": 33}], "disease": [{"text": "mandibuloacral dysplasia", "start": 68, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 29, "end": 33}, "tail": {"text": "mandibuloacral dysplasia", "start": 68, "end": 92}}]}}, "schema": []}
{"input": "Gene modified MSC expressing TRAIL were cocultured with different osteosarcoma, rhabdomyosarcoma, and Ewing' s Sarcoma (ES) cell lines assessing viability and caspase-8 activation.", "output": {"entities": {"gene": [{"text": "MSC", "start": 14, "end": 17}], "disease": [{"text": "rhabdomyosarcoma", "start": 80, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The PAX8-PPARG translocation was detected in 2/18 FTC (11. 1%).", "output": {"entities": {"gene": [{"text": "PPARG", "start": 9, "end": 14}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "PBP-deficient hepatocytes in liver failed to reveal PB-dependent translocation of CAR to the nucleus.", "output": {"entities": {"gene": [{"text": "PBP", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Here, we knocked down SOD2 expression in AR-expressing LNCaP prostate cancer cells and determined gene expression changes, transcription factor binding, and AR transcription activity in SOD2 knockdown cells.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 22, "end": 26}], "disease": [{"text": "prostate cancer", "start": 61, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD2", "start": 22, "end": 26}, "tail": {"text": "prostate cancer", "start": 61, "end": 76}}]}}, "schema": []}
{"input": "They also suggest that p53 functional inactivation accounts for the cytokine hypersensitivity of JAK2 (V617F) MPN and might have a role in disease progression.", "output": {"entities": {"gene": [{"text": "p53", "start": 23, "end": 26}], "disease": [{"text": "hypersensitivity", "start": 77, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of LBP (rs1739654, rs2232596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 83, "end": 88}], "disease": [{"text": "sporadic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "E1A, E1B double-restricted adenovirus enhances the cytotoxicity and antitumor activity of gemcitabine to renal cell carcinoma.", "output": {"entities": {"gene": [{"text": "E1B", "start": 5, "end": 8}], "disease": [{"text": "renal cell carcinoma", "start": 105, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Together, these data suggest that REST is responsible for the reduced expression of GluR2 in glioma cells.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 84, "end": 89}], "disease": [{"text": "glioma", "start": 93, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Histologic examination showed stepwise appearances of fibrosis, cirrhosis, HCA, and HCC at weeks 9, 20, 30, and 40, respectively.", "output": {"entities": {"gene": [{"text": "HCC", "start": 84, "end": 87}], "disease": [{"text": "fibrosis", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This report describes a male infant with partial trisomy 2q: 46, Y, der (X), t (X; 2) (p22. 3; q32. 1) mat.", "output": {"entities": {"gene": [{"text": "p22", "start": 87, "end": 90}], "disease": [{"text": "partial trisomy", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "OPRM1 is an attractive positional candidate gene for T2DM susceptibility since agonists of OPRM1 affect glucose-induced insulin release and OPRM1 knockout mice have a more rapid induction of insulin resistance than wild-type.", "output": {"entities": {"gene": [{"text": "OPRM1", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 191, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Using gene expression profiling, here we show that EGCG treatment of Her-2/neu-driven mammary tumor cells alters the expression of key regulators in the epithelial to mesenchymal transition (EMT) pathway, reducing invasive phenotype.", "output": {"entities": {"gene": [{"text": "EMT", "start": 191, "end": 194}], "disease": [{"text": "mammary tumor", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Thus, fibrate therapy, which reduces hepatic APOC3 transcription, may delay amyloid deposition in affected patients.", "output": {"entities": {"gene": [{"text": "APOC3", "start": 45, "end": 50}], "disease": [{"text": "amyloid", "start": 76, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOC3", "start": 45, "end": 50}, "tail": {"text": "amyloid", "start": 76, "end": 83}}]}}, "schema": []}
{"input": "Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H +/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.", "output": {"entities": {"gene": [{"text": "SLC17A5", "start": 89, "end": 96}], "disease": [{"text": "Salla disease", "start": 121, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC17A5", "start": 89, "end": 96}, "tail": {"text": "Salla disease", "start": 121, "end": 134}}]}}, "schema": []}
{"input": "Overexpression of HER-2/neu is common in some nonendocrine tumors, frequently correlates with increased tumor aggressiveness, and can be used as a basis of treatment with trastuzumab.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 18, "end": 27}], "disease": [{"text": "aggressiveness", "start": 110, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "DR4 and DR5 methylation was not frequent in cutaneous melanoma but on the contrary it was very frequent in uveal melanoma.", "output": {"entities": {"gene": [{"text": "DR5", "start": 8, "end": 11}], "disease": [{"text": "uveal melanoma", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Recently and in agreement with the theory that impaired angiogenesis can contribute to increased peripheral resistance and raised blood pressure (BP), an involvement of VEGF gene promoter polymorphisms in the pathophysiology of hypertension has been hypothesized.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 169, "end": 173}], "disease": [{"text": "blood pressure", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Both TSLP and IL-31 stimulate sensory cutaneous neurons involved in the induction of itch.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 5, "end": 9}], "disease": [{"text": "itch", "start": 85, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The same variants were common to fertile and infertile men, although partial DAZ deletions occurred only in infertile men, suggesting that those should only be used as a tool for infertility diagnosis when analysed in combination with haplogroup determinations.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 77, "end": 80}], "disease": [{"text": "infertility", "start": 179, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The neurotrophic factor glial cell line-derived neurotrophic factor (GDNF) may have therapeutic potential for preventing and treating cocaine addiction.", "output": {"entities": {"gene": [{"text": "glial cell line-derived neurotrophic factor", "start": 24, "end": 67}], "disease": [{"text": "cocaine addiction", "start": 134, "end": 151}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "glial cell line-derived neurotrophic factor", "start": 24, "end": 67}, "tail": {"text": "cocaine addiction", "start": 134, "end": 151}}]}}, "schema": []}
{"input": "Anthropometric (weight, height and blood pressure) and metabolic measurements (plasma levels of glucose, cholesterol and triglycerides), and determination of beta3-AR, UCP1 and LPL genotypes by polymerase chain reaction followed by enzymatic digestion.", "output": {"entities": {"gene": [{"text": "LPL", "start": 177, "end": 180}], "disease": [{"text": "weight", "start": 16, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Gene expression microarray data from 443 lung adenocarcinoma patients, and tissue microarray data from 67 such patients, showed a strong correlation of expression between EGFR and SMURF2 at the messenger RNA and protein levels, respectively.", "output": {"entities": {"gene": [{"text": "SMURF2", "start": 180, "end": 186}], "disease": [{"text": "lung adenocarcinoma", "start": 41, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Decreased lectin-like oxidized LDL receptor 1 (LOX-1) and low Nrf2 activation in placenta are involved in preeclampsia.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 62, "end": 66}], "disease": [{"text": "preeclampsia", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "This study did not provide evidence for the contribution of the PACAP gene to the etiology of schizophrenia or bipolar disorders in the Japanese population.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 64, "end": 69}], "disease": [{"text": "bipolar disorders", "start": 111, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PACAP", "start": 64, "end": 69}, "tail": {"text": "bipolar disorders", "start": 111, "end": 128}}]}}, "schema": []}
{"input": "Overall, our results defined miR-346 as an oncogenic miRNA in NSCLC, the levels of which contributed to tumor growth and invasive aggressiveness.", "output": {"entities": {"gene": [{"text": "miR-346", "start": 29, "end": 36}], "disease": [{"text": "NSCLC", "start": 62, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-346", "start": 29, "end": 36}, "tail": {"text": "NSCLC", "start": 62, "end": 67}}]}}, "schema": []}
{"input": "We investigated the association of YWHAH with BP in a large sample, consisting of 1211 subjects from 318 nuclear families including 554 affected offspring.", "output": {"entities": {"gene": [{"text": "YWHAH", "start": 35, "end": 40}], "disease": [{"text": "BP", "start": 46, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "YWHAH", "start": 35, "end": 40}, "tail": {"text": "BP", "start": 46, "end": 48}}]}}, "schema": []}
{"input": "P = 0. 019) to predispose to CVS after adjusting for age, sex, hypertension or not, hyperlipemia or not, Fisher grade, and Hunt-Hess grade after SAH.", "output": {"entities": {"gene": [{"text": "SAH", "start": 145, "end": 148}], "disease": [{"text": "hyperlipemia", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In contrast, lung preconditioning with isoflurane anesthesia increases lung ECRG4 gene expression.", "output": {"entities": {"gene": [{"text": "ECRG4", "start": 76, "end": 81}], "disease": [{"text": "anesthesia", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Microgliosis, quantified with ionized calcium-binding adapter molecule 1 (Iba-1) staining, did not differ between groups, whereas plaque associated microglia was more abundant in J20 CNR2 (-/-) mice.", "output": {"entities": {"gene": [{"text": "ionized calcium-binding adapter molecule 1", "start": 30, "end": 72}], "disease": [{"text": "plaque", "start": 130, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "All 11 exons of the GLUT4 gene from 30 British white subjects with NIDDM were amplified using the polymerase chain reaction and screened for nucleotide sequence variation using the single-stranded conformation polymorphism (SSCP) method.", "output": {"entities": {"gene": [{"text": "GLUT4", "start": 20, "end": 25}], "disease": [{"text": "NIDDM", "start": 67, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT4", "start": 20, "end": 25}, "tail": {"text": "NIDDM", "start": 67, "end": 72}}]}}, "schema": []}
{"input": "TGF-beta, EGF, and IGF-1 levels were also significantly increased in patients with PF compared with controls.", "output": {"entities": {"gene": [{"text": "EGF", "start": 10, "end": 13}], "disease": [{"text": "PF", "start": 83, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGF", "start": 10, "end": 13}, "tail": {"text": "PF", "start": 83, "end": 85}}]}}, "schema": []}
{"input": "CTGF expression was found by immunohistochemistry in bile duct epithelial cells, hepatic stellate cells, and hepatocytes in fibrotic liver tissue from patients with chronic hepatitis B infection.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 0, "end": 4}], "disease": [{"text": "chronic hepatitis B", "start": 165, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTGF", "start": 0, "end": 4}, "tail": {"text": "chronic hepatitis B", "start": 165, "end": 184}}]}}, "schema": []}
{"input": "Next, we performed IF analyses of SPEF2 in respiratory cells from 189 individuals with suspected PCD and & lt; i & gt; situs solitus & lt;/i & gt;.", "output": {"entities": {"gene": [{"text": "SPEF2", "start": 34, "end": 39}], "disease": [{"text": "PCD", "start": 97, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPEF2", "start": 34, "end": 39}, "tail": {"text": "PCD", "start": 97, "end": 100}}]}}, "schema": []}
{"input": "Microsatellite instability is prone to occur in sporadic right colon carcinoma during tumor growth and is not associated significantly with mutations in the hMLH1 and hMSH2 mismatch repair genes or in the p53 gene.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 205, "end": 213}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-1 receptor associated kinase M (IRAK-M) negatively regulates TLR signalling and inflammation.", "output": {"entities": {"gene": [{"text": "IRAK-M", "start": 44, "end": 50}], "disease": [{"text": "inflammation", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Either pharmacological reconstitution of FoxO1 activity using intravenous or inhaled paclitaxel, or reconstitution of the transcriptional activity of FoxO1 by gene therapy, restored the physiologically quiescent PASMC phenotype in vitro, linked to changes in cell cycle control and bone morphogenic protein receptor type 2 (BMPR2) signaling, and reversed vascular remodeling and right-heart hypertrophy in vivo.", "output": {"entities": {"gene": [{"text": "FoxO1", "start": 41, "end": 46}], "disease": [{"text": "heart hypertrophy", "start": 385, "end": 402}]}, "relations": {}}, "schema": []}
{"input": "We also showed that overexpression of Sirt3 using adenovirus inhibited HCC cell growth (two cell lines: HepG2 and HuH-7 cells) and induced apoptosis, which was evidenced by the increase of LDH leakage, enhancement of TUNEL-positive cells number and promotion of AIF translocation to nuclei.", "output": {"entities": {"gene": [{"text": "HCC", "start": 71, "end": 74}], "disease": [{"text": "translocation", "start": 266, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "(1) Expressions of TLR4, levels of TNF-& #945; and MMP-9 were increased and the rate was rising from the control group, to SAP group and then to ACS group.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 19, "end": 23}], "disease": [{"text": "SAP", "start": 123, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR4", "start": 19, "end": 23}, "tail": {"text": "SAP", "start": 123, "end": 126}}]}}, "schema": []}
{"input": "In 7 (33. 3%) of the 21 heterozygous patients the PT 20210A allele was associated with the factor V Leiden mutation, in 1--with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR), and in 1--with lupus anticoagulant.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 202, "end": 207}], "disease": [{"text": "lupus anticoagulant", "start": 225, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase and tensin homologue deleted on chromosome-10), a dual specificity phosphatase, is a tumor suppressor gene whose inactivation has been associated with many different types of cancer including prostate cancer.", "output": {"entities": {"gene": [{"text": "tensin", "start": 22, "end": 28}], "disease": [{"text": "cancer", "start": 193, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking IRF3, IRF7, the kinase TBK1 or the type I IFN receptor were resistant to otherwise lethal cerebral malaria.", "output": {"entities": {"gene": [{"text": "IRF3", "start": 13, "end": 17}], "disease": [{"text": "cerebral malaria", "start": 103, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that autism may be accompanied by an activation of the monocytic (increased IL-1RA) and Th-1-like (increased IFN-gamma) arm of the IRS.", "output": {"entities": {"gene": [{"text": "IL-1RA", "start": 98, "end": 104}], "disease": [{"text": "autism", "start": 27, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1RA", "start": 98, "end": 104}, "tail": {"text": "autism", "start": 27, "end": 33}}]}}, "schema": []}
{"input": "Because diazepam binding inhibitor (DBI) and its processing products coexist with gamma-aminobutyric acid (GABA) in several axon terminals, DBI immunoreactivity was measured in the cerebrospinal fluid (CSF) of individuals suffering from various neuropsychiatric disorders, that are believe to be associated with abnormalities of GABAergic transmission.", "output": {"entities": {"gene": [{"text": "DBI", "start": 36, "end": 39}], "disease": [{"text": "abnormalities", "start": 312, "end": 325}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that ERK1/2 pathway is involved in the up-regulation of VEGF expression ionizing radiation mediated by AP-1, which may lead to further neovascularization and proliferation of glioblastoma cells resistant to radiation therapy.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 27, "end": 31}], "disease": [{"text": "neovascularization", "start": 157, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Without exception, all were R132C (CGT--> TGT), which in sporadic astrocytomas accounts for < 5% of IDH1 mutations.", "output": {"entities": {"gene": [{"text": "TGT", "start": 42, "end": 45}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Changes in blood pressure, left ventricular mass, carotid intima-media thickness, body mass index, and waist circumference did not correlate with changes in the expression of renin-angiotensin system genes, CD14, leptin, and adiponectin receptors mRNA.", "output": {"entities": {"gene": [{"text": "CD14", "start": 207, "end": 211}], "disease": [{"text": "blood pressure", "start": 11, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we report for the first time that METRNL alleviates inflammation and insulin resistance and induces fatty acid oxidation through AMPK or PPAR & #948;-dependent signaling in skeletal muscle.", "output": {"entities": {"gene": [{"text": "METRNL", "start": 56, "end": 62}], "disease": [{"text": "insulin resistance", "start": 91, "end": 109}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "METRNL", "start": 56, "end": 62}, "tail": {"text": "insulin resistance", "start": 91, "end": 109}}]}}, "schema": []}
{"input": "Thus, the induction of Smct1 by testosterone is a candidate mechanism underlying hyperuricemia in males.", "output": {"entities": {"gene": [{"text": "Smct1", "start": 23, "end": 28}], "disease": [{"text": "hyperuricemia", "start": 81, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Smct1", "start": 23, "end": 28}, "tail": {"text": "hyperuricemia", "start": 81, "end": 94}}]}}, "schema": []}
{"input": "Both miR-219 and Dazap1 are putative markers of schizophrenia and bipolar affective disorder in humans.", "output": {"entities": {"gene": [{"text": "Dazap1", "start": 17, "end": 23}], "disease": [{"text": "schizophrenia", "start": 48, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dazap1", "start": 17, "end": 23}, "tail": {"text": "schizophrenia", "start": 48, "end": 61}}]}}, "schema": []}
{"input": "The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 138, "end": 142}], "disease": [{"text": "juvenile polyposis", "start": 84, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 138, "end": 142}, "tail": {"text": "juvenile polyposis", "start": 84, "end": 102}}]}}, "schema": []}
{"input": "Further data from quantitative real-time RT-PCR and Western blotting revealed that the adipokines tumor necrosis factor alpha (TNFalpha), interleukin-6 (IL-6), and leptin, which have been implicated in insulin sensitivity regulation, regulate the expression of STEAP4.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 153, "end": 157}], "disease": [{"text": "insulin sensitivity", "start": 202, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias.", "output": {"entities": {"gene": [{"text": "PABP2", "start": 193, "end": 198}], "disease": [{"text": "limb-girdle muscular dystrophy", "start": 161, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants of the IL13 and IL4 genes and atopic diseases in at-risk children.", "output": {"entities": {"gene": [{"text": "IL13", "start": 24, "end": 28}], "disease": [{"text": "atopic", "start": 47, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, BC2 showed weak cross-reactivity to pyruvate dehydrogenase complex-E2 (PDC-E2), another mitochondrial autoantigen found in primary biliary cirrhosis (PBC), and their kappa light chain genes have 95% homology with a light chain of the human anti-DNA antibody.", "output": {"entities": {"gene": [{"text": "BC2", "start": 15, "end": 18}], "disease": [{"text": "primary biliary cirrhosis", "start": 138, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In order to demonstrate the role of TAZ in LPA-stimulated tumorigenesis, the effects of LPA on TAZ expression and cell migration were determined by Western blotting and chemotaxis analyses in R182 human epithelial ovarian cancer cells.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 36, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "There are synergistic and cumulative effects of 5G allele of PAI-1 polymorphism and C allele of IL-6 polymorphism with smoking in determining their associated risk with CAD.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 96, "end": 100}], "disease": [{"text": "smoking", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The effect of CHOP on the translocation and sequestration of Bcl-2 in the nucleus, which requires the binding of Bcl-2 to ASPP2, is also critical for ASPP2-induced autophagic apoptosis.", "output": {"entities": {"gene": [{"text": "ASPP2", "start": 122, "end": 127}], "disease": [{"text": "translocation", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 199, "end": 204}], "disease": [{"text": "STGD", "start": 34, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA4", "start": 199, "end": 204}, "tail": {"text": "STGD", "start": 34, "end": 38}}]}}, "schema": []}
{"input": "We sought to characterize the haplotype structure of IDE in detail and replicate the association of common variants with type 2 diabetes, fasting insulin, fasting glucose, and insulin resistance.", "output": {"entities": {"gene": [{"text": "IDE", "start": 53, "end": 56}], "disease": [{"text": "insulin resistance", "start": 176, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Marked bradycardia during sleep was observed after the 16th day of ACTH therapy.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 67, "end": 71}], "disease": [{"text": "bradycardia", "start": 7, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 67, "end": 71}, "tail": {"text": "bradycardia", "start": 7, "end": 18}}]}}, "schema": []}
{"input": "The IL-13 + 2044G/A polymorphism may be associated with atopy and EIB severity in Korean children with EIB, and thus could potentially be considered as a disease-modifying gene.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 4, "end": 9}], "disease": [{"text": "atopy", "start": 56, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We have screened the probands from nine unrelated Danish families with hypohidrotic ectodermal dysplasia for mutation in exon 1 of the EDA-gene by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP).", "output": {"entities": {"gene": [{"text": "EDA", "start": 135, "end": 138}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 71, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA", "start": 135, "end": 138}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 71, "end": 104}}]}}, "schema": []}
{"input": "We report the molecular characterization of 68 PFIC3 index cases enrolled in a multicenter study, which represents the largest cohort of PFIC3 patients screened for ABCB4 mutations to date.", "output": {"entities": {"gene": [{"text": "ABCB4", "start": 165, "end": 170}], "disease": [{"text": "PFIC3", "start": 47, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCB4", "start": 165, "end": 170}, "tail": {"text": "PFIC3", "start": 47, "end": 52}}]}}, "schema": []}
{"input": "We report the in-vivo fusion of two Hodgkin lymphomas with golden hamster cheek pouch cells, resulting in serially-transplanted (over 5-6 years) GW-532 and GW-584 heterosynkaryon tumor cells displaying both human and hamster DNA (by FISH), lymphoma-like morphology, aggressive metastasis, and retention of 7 human genes (CD74, CXCR4, CD19, CD20, CD71, CD79b, and VIM) out of 24 tested by PCR.", "output": {"entities": {"gene": [{"text": "CD79b", "start": 352, "end": 357}], "disease": [{"text": "metastasis", "start": 277, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Intestinal epithelial cell-specific PLD1 overexpression in Apc (Min/+) mice accelerated tumorigenesis with increased proliferation and nuclear β-catenin levels compared with Apc (Min/+) mice.", "output": {"entities": {"gene": [{"text": "PLD1", "start": 36, "end": 40}], "disease": [{"text": "tumorigenesis", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Multiple mechanisms cause nearly universal dysfunction of BRCA1 and/or BRCA2 in hereditary and sporadic ovarian carcinoma.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 71, "end": 76}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Association of the manganese superoxide dismutase polymorphism with vasospastic angina pectoris.", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 19, "end": 49}], "disease": [{"text": "vasospastic angina", "start": 68, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Minor cell populations expressing CD29, CD34, CD90, and CD117 against the background of CD133 expression were detected in cancer cells suspensions from the patients with colorectal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "CD34", "start": 40, "end": 44}], "disease": [{"text": "colorectal adenocarcinoma", "start": 170, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "This paper reviews the current advances in BRCA1/BRCA2 research: the structure of their genes and proteins, their mutation frequencies, their possible roles in both hereditary and sporadic breast cancers, and their functions in transcriptional regulation and DNA repair.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 49, "end": 54}], "disease": [{"text": "sporadic", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to that observed in human flecked retinal diseases.", "output": {"entities": {"gene": [{"text": "rd6", "start": 63, "end": 66}], "disease": [{"text": "retinal diseases", "start": 187, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Our aims were to examine the impact of the CYP2B6 * 6 allele on ketamine plasma clearance and on adverse effects in chronic pain patients.", "output": {"entities": {"gene": [{"text": "CYP2B6", "start": 43, "end": 49}], "disease": [{"text": "chronic pain", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The loss of PAR-1 in vivo significantly attenuated bleomycin-induced skin fibrosis.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 12, "end": 17}], "disease": [{"text": "fibrosis", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "STC2: a predictive marker for lymph node metastasis in esophageal squamous-cell carcinoma.", "output": {"entities": {"gene": [{"text": "STC2", "start": 0, "end": 4}], "disease": [{"text": "esophageal", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "BRCA2 and TP53 collaborate in tumorigenesis in zebrafish.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied mRNA patterns of PACAP, SDF-1 and the cognate receptors PAC1 and CXCR4 by in situ hybridization in the rat hippocampus after transient global ischemia, a rat model for programmed death of CA1 pyramidal neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 205, "end": 208}], "disease": [{"text": "ischemia", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 48, "end": 59}], "disease": [{"text": "X-linked hyper IgM syndrome", "start": 82, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD40 ligand", "start": 48, "end": 59}, "tail": {"text": "X-linked hyper IgM syndrome", "start": 82, "end": 109}}]}}, "schema": []}
{"input": "There was a significant reduction in mTOR, p70S6K, eIF4B and p-eIF4B protein expression in MDD subjects relative to controls.", "output": {"entities": {"gene": [{"text": "mTOR", "start": 37, "end": 41}], "disease": [{"text": "MDD", "start": 91, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mTOR", "start": 37, "end": 41}, "tail": {"text": "MDD", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "Several reports have shown that urotensin 2 (UTS2) and its receptor (UTS2R) are involved in glucose metabolism and insulin resistance, which lead to development of type 2 diabetes mellitus (T2DM) in humans.", "output": {"entities": {"gene": [{"text": "UTS2R", "start": 69, "end": 74}], "disease": [{"text": "insulin resistance", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Vaspin mRNA was barely detectable at 6 weeks of age and it was abundantly and exclusively expressed in visceral WATs at 30 weeks of age, when OLETF rats reach their peak body weight.", "output": {"entities": {"gene": [{"text": "Vaspin", "start": 0, "end": 6}], "disease": [{"text": "body weight", "start": 170, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygosity (G71R/R140H) in the lecithin: cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 83, "end": 87}], "disease": [{"text": "LCAT-deficiency", "start": 139, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 83, "end": 87}, "tail": {"text": "LCAT-deficiency", "start": 139, "end": 154}}]}}, "schema": []}
{"input": "m (6) A can be demethylated by fat mass-and obesity-associated (FTO) protein and α-ketoglutarate-dependent dioxygenase alkB homolog 5 (ALKBH5) protein.", "output": {"entities": {"gene": [{"text": "ALKBH5", "start": 135, "end": 141}], "disease": [{"text": "obesity", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Patients with GBA-associated parkinsonism exhibit varying parkinsonian phenotypes but tend to have an earlier age of onset and more associated cognitive changes than patients with parkinsonism without GBA mutations.", "output": {"entities": {"gene": [{"text": "GBA", "start": 14, "end": 17}], "disease": [{"text": "cognitive changes", "start": 143, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We found mutations of VPS13A, VPS13B, VPS13C, VPS33A, VPS35, VPS37B, VPS41, and VPS54 in 9, 3, 12, 3, 5, 9, 2, and 2 cancers, respectively, all in cancers with high microsatellite instability.", "output": {"entities": {"gene": [{"text": "VPS13A", "start": 22, "end": 28}], "disease": [{"text": "cancers", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that the PTEN-Akt-p53-miR-365-cyclin D1/cdc25A axis serves as a new mechanism underlying gastric tumorigenesis, providing potential new therapeutic targets.", "output": {"entities": {"gene": [{"text": "cdc25A", "start": 63, "end": 69}], "disease": [{"text": "tumorigenesis", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "It has been reported that the nicotinic acetylcholine receptor (CHRNA4 and CHRNB2) genes might be associated with smoking behavior in several ethnic populations.", "output": {"entities": {"gene": [{"text": "CHRNA4", "start": 64, "end": 70}], "disease": [{"text": "smoking behavior", "start": 114, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Hence, the lower expression of TASK-2 channel in APA cells can explain high aldosterone secretion in human primary aldosteronism despite the suppression of angiotensin II, hypertension, and hypokalemia.", "output": {"entities": {"gene": [{"text": "APA", "start": 49, "end": 52}], "disease": [{"text": "hypokalemia", "start": 190, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "FGF20", "start": 155, "end": 160}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF20", "start": 155, "end": 160}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome.", "output": {"entities": {"gene": [{"text": "TINF2", "start": 34, "end": 39}], "disease": [{"text": "Revesz syndrome", "start": 96, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TINF2", "start": 34, "end": 39}, "tail": {"text": "Revesz syndrome", "start": 96, "end": 111}}]}}, "schema": []}
{"input": "Pure partial trisomy of 6p12. 1-p22. 1 secondary to a familial 12/6 insertion in two malformed babies.", "output": {"entities": {"gene": [{"text": "p22", "start": 32, "end": 35}], "disease": [{"text": "partial trisomy", "start": 5, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "We searched for SLC35D1 mutations in five families with SBD and 15 patients with other SSDD group diseases, including achodrogenesis type 1A, spondylometaphyseal dysplasia Sedaghatian type and fibrochondrogenesis.", "output": {"entities": {"gene": [{"text": "SLC35D1", "start": 16, "end": 23}], "disease": [{"text": "SBD", "start": 56, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC35D1", "start": 16, "end": 23}, "tail": {"text": "SBD", "start": 56, "end": 59}}]}}, "schema": []}
{"input": "B-2A13 cells showed increased sensitivity to 0. 1 nM AFB1-induced neoplastic transformation and the formation of tumors in nude mice were observed at passage 30 (P30) while it occurred at P50 B-1A2 cells.", "output": {"entities": {"gene": [{"text": "P30", "start": 162, "end": 165}], "disease": [{"text": "tumors", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, COX-2 overexpression was found to protect, rather than sensitize, K14. COX2 mice to skin tumor development induced by an initiation/promotion protocol.", "output": {"entities": {"gene": [{"text": "K14", "start": 80, "end": 83}], "disease": [{"text": "skin tumor", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Therefore, genes encoding IL-4 and IL-13 are candidates for predisposition to asthma and atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 35, "end": 40}], "disease": [{"text": "atopy", "start": 89, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Chemokine CCL5/RANTES is highly expressed in cancer where it contributes to inflammation and malignant progression.", "output": {"entities": {"gene": [{"text": "highly expressed in cancer", "start": 25, "end": 51}], "disease": [{"text": "inflammation", "start": 76, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.", "output": {"entities": {"gene": [{"text": "NTRK1", "start": 68, "end": 73}], "disease": [{"text": "HSAN IV", "start": 40, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NTRK1", "start": 68, "end": 73}, "tail": {"text": "HSAN IV", "start": 40, "end": 47}}]}}, "schema": []}
{"input": "To elucidate the functions of CARM1 in tumorigenesis, we knocked out CARM1 from several breast cancer cell lines using Zinc-Finger Nuclease technology, which resulted in drastic phenotypic and biochemical changes.", "output": {"entities": {"gene": [{"text": "CARM1", "start": 30, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "These results may have implications in better understanding the underlying epigenetic mechanisms in BRCA1 and BRCA2 oncosuppressors in sporadic ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 110, "end": 115}], "disease": [{"text": "sporadic", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Here, we examined whether H. pylori Trx1 is a novel virulence factor associated with gastric tumorigenesis.", "output": {"entities": {"gene": [{"text": "Trx1", "start": 36, "end": 40}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In multivariate logistic regression analysis, CDX2 loss was associated with female gender [odds ratio (OR), 3. 32; P < 0. 0001], CIMP-high (OR, 4. 42; P = 0. 0003), high tumor grade (OR, 2. 69; P = 0. 0085), stage IV disease (OR, 2. 03; P = 0. 019), and inversely with LINE-1 hypomethylation (for a 30% decline; OR, 0. 33; P = 0. 0031), p53 expression (OR, 0. 55; P = 0. 011), and beta-catenin activation (OR, 0. 60; P = 0. 037), but not with body mass index, tumor location, microsatellite instability, BRAF, KRAS, PIK3CA, p21, or cyclooxygenase-2.", "output": {"entities": {"gene": [{"text": "p53", "start": 337, "end": 340}], "disease": [{"text": "body mass index", "start": 443, "end": 458}]}, "relations": {}}, "schema": []}
{"input": "Since this discovery, the WNK-OSR1/SPAK-NCC signaling cascade has been shown to be involved not only in PHAII but also in the regulation of blood pressure under normal and pathogenic conditions, such as hyperinsulinemia.", "output": {"entities": {"gene": [{"text": "SPAK", "start": 35, "end": 39}], "disease": [{"text": "hyperinsulinemia", "start": 203, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P & lt; 5 & #215; 10 & #8315; & #8312;) and replicated one locus, 5q33. 1 (TNIP1-ANXA6), previously reported (combined P = 3. 8 & #215; 10 & #8315; & #178; & #185;) in the European studies.", "output": {"entities": {"gene": [{"text": "PTTG1", "start": 127, "end": 132}], "disease": [{"text": "psoriasis", "start": 58, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTTG1", "start": 127, "end": 132}, "tail": {"text": "psoriasis", "start": 58, "end": 67}}]}}, "schema": []}
{"input": "Cox regression was used to estimate the risk for ESRD associated with hemostatic factors (factor VIIc, factor VIIIc, fibrinogen, von Willebrand factor, protein C, and antithrombin III).", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 167, "end": 183}], "disease": [{"text": "fibrinogen", "start": 117, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 27, "end": 31}], "disease": [{"text": "campomelic dysplasia", "start": 40, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 27, "end": 31}, "tail": {"text": "campomelic dysplasia", "start": 40, "end": 60}}]}}, "schema": []}
{"input": "Importantly, although ET-1 augments capsaicin-induced overt nociception and thermal hyperalgesia, potentiation of the former relies solely on ET (A) receptor-mediated signaling mechanisms, whereas both receptors contribute to the latter.", "output": {"entities": {"gene": [{"text": "ET-1", "start": 22, "end": 26}], "disease": [{"text": "thermal hyperalgesia", "start": 76, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ET-1", "start": 22, "end": 26}, "tail": {"text": "thermal hyperalgesia", "start": 76, "end": 96}}]}}, "schema": []}
{"input": "We tested for an association between SNPs in MMP12 and asthma, including its severity, in a Japanese population (630 pediatric and 417 adult patients with atopic asthma and 336 children and 632 adults as controls).", "output": {"entities": {"gene": [{"text": "MMP12", "start": 45, "end": 50}], "disease": [{"text": "atopic asthma", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied phenotypes associated with mutations in the schizophrenia susceptibility gene dysbindin (dysb), in isolation or in combination with null alleles in the dysb network component Blos1.", "output": {"entities": {"gene": [{"text": "Blos1", "start": 192, "end": 197}], "disease": [{"text": "schizophrenia", "start": 61, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Blos1", "start": 192, "end": 197}, "tail": {"text": "schizophrenia", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "These data suggest that the receptor responsible for orphanin FQ/nociceptin-induced hyperphagia is encoded by the ORL1/KOR-3 clone.", "output": {"entities": {"gene": [{"text": "orphanin FQ", "start": 53, "end": 64}], "disease": [{"text": "hyperphagia", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Diagnostic and prognostic value of immunohistochemical expression of S100P and IMP3 in transpapillary biliary forceps biopsy samples of extrahepatic bile duct carcinoma.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 79, "end": 83}], "disease": [{"text": "extrahepatic bile duct carcinoma", "start": 136, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Sirt6 has also recently been demonstrated to attenuate cardiac hypertrophy, and Sirt7 is known to regulate apoptosis and stress responses in the heart.", "output": {"entities": {"gene": [{"text": "Sirt7", "start": 80, "end": 85}], "disease": [{"text": "cardiac hypertrophy", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "To investigate the clinical prognostic value of protein tyrosine kinase 6 (PTK6) in patients with esophageal squamous cell carcinoma (ESCC), quantitative RT-PCR and Western blotting were utilized to measure the mRNA and protein expression levels of PTK6 in 29 and eight pairs of ESCC and peritumoral normal esophageal tissues, respectively.", "output": {"entities": {"gene": [{"text": "PTK6", "start": 75, "end": 79}], "disease": [{"text": "esophageal", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.", "output": {"entities": {"gene": [{"text": "SLC1A1", "start": 127, "end": 133}], "disease": [{"text": "ASD", "start": 194, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC1A1", "start": 127, "end": 133}, "tail": {"text": "ASD", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "Five patients from a family with Peters' anomaly and ARS were screened for mutations in the PITX2, CYP1B1 and FOXC1 genes by direct sequencing.", "output": {"entities": {"gene": [{"text": "FOXC1", "start": 110, "end": 115}], "disease": [{"text": "Peters' anomaly", "start": 33, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXC1", "start": 110, "end": 115}, "tail": {"text": "Peters' anomaly", "start": 33, "end": 48}}]}}, "schema": []}
{"input": "Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.", "output": {"entities": {"gene": [{"text": "PCDH19", "start": 67, "end": 73}], "disease": [{"text": "Dravet syndrome", "start": 84, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCDH19", "start": 67, "end": 73}, "tail": {"text": "Dravet syndrome", "start": 84, "end": 99}}]}}, "schema": []}
{"input": "Thyroid tumor cell lines (BCPAP [papillary thyroid cancer] and ML-1 [follicular thyroid cancer]) were cultured with estradiol with and without an estrogen receptor (ER) inhibitor (fulvestrant or ICI) and used to treat human umbilical vein endothelial cells (HUVECs).", "output": {"entities": {"gene": [{"text": "ML-1", "start": 63, "end": 67}], "disease": [{"text": "papillary thyroid cancer", "start": 33, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Comparison between-634C/C and C/G + G/G groups revealed also a significant interaction between smoking and the IL6-634C/G genotype (p = 0. 007).", "output": {"entities": {"gene": [{"text": "IL6", "start": 111, "end": 114}], "disease": [{"text": "smoking", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.", "output": {"entities": {"gene": [{"text": "galactosyltransferase I", "start": 125, "end": 148}], "disease": [{"text": "progeroid variant of Ehlers-Danlos syndrome", "start": 24, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "galactosyltransferase I", "start": 125, "end": 148}, "tail": {"text": "progeroid variant of Ehlers-Danlos syndrome", "start": 24, "end": 67}}]}}, "schema": []}
{"input": "Endothelin-3 levels were enhanced by hypothalamic stimulation and by hemorrhage-induced hypotension and reduced by nitroprusside-induced hypotension.", "output": {"entities": {"gene": [{"text": "Endothelin-3", "start": 0, "end": 12}], "disease": [{"text": "hypotension", "start": 88, "end": 99}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Endothelin-3", "start": 0, "end": 12}, "tail": {"text": "hypotension", "start": 88, "end": 99}}]}}, "schema": []}
{"input": "Zymosan-induced arthritis (ZIA), K/BxN serum-induced arthritis, and Freund' s complete adjuvant (CFA)-induced arthritis were generated in naive PAR-2 (-/-) mice and PAR-2 (+/+) littermates.", "output": {"entities": {"gene": [{"text": "PAR", "start": 144, "end": 147}], "disease": [{"text": "arthritis", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "This review discusses the regulation of CCN2 by TGF-β and hypoxia, two critical determinants that characterize the disc microenvironment, and discusses known functions of CCN2 in the disc.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 40, "end": 44}], "disease": [{"text": "hypoxia", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In order to investigate the association of two CTLA4 polymorphisms (+ 49 A/G and-318 C/T) with multiple sclerosis, sporadic MS patients and healthy controls from Italy were genotyped through direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "CTLA4", "start": 47, "end": 52}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Molecular analysis of the Ca2 + channelopathies will provide new insights into the role, function and pathology of these voltage-gated Ca2 + channels.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 26, "end": 29}], "disease": [{"text": "channelopathies", "start": 32, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.", "output": {"entities": {"gene": [{"text": "glutathione synthetase", "start": 32, "end": 54}], "disease": [{"text": "5-oxoprolinuria", "start": 97, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glutathione synthetase", "start": 32, "end": 54}, "tail": {"text": "5-oxoprolinuria", "start": 97, "end": 112}}]}}, "schema": []}
{"input": "The results presented here provide evidence that metabolic disturbances of retinal and retinoic acid, due to abnormal splicing and functional disorder of NRDR, may be involved in cervical tumorigenesis.", "output": {"entities": {"gene": [{"text": "NRDR", "start": 154, "end": 158}], "disease": [{"text": "tumorigenesis", "start": 188, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "We infected HCC cells (HepG2, Hep3B and Huh7) with an adenovirus expressing SPARC (AdsSPARC) to examine the role of SPARC expression on HCC cells and its effect on tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 12, "end": 15}], "disease": [{"text": "adenovirus", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The prevalent FISH patterns were balanced disomy (40%) and trisomy (38%) for EGFR gene and chromosome 7 (40%), whereas balanced polysomy was seen in 13% and gene amplification was seen in 9% of the patients.", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 77, "end": 86}], "disease": [{"text": "trisomy", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Results from oligoarray expression analyses indicated that ITGA3, ITGA9, ITGB4, ITGB7 and MMP15 had significantly higher expression levels in MSI-H tumours versus MSS/MSI-L cancers, whereas COL12A1, CSPG2, FN1, MMP-7 and SGCE were down-regulated in tumours with high microsatellite instability when compared to the stable group.", "output": {"entities": {"gene": [{"text": "CSPG2", "start": 199, "end": 204}], "disease": [{"text": "microsatellite instability", "start": 267, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "In this study, the expression and localization of cornifin-alpha/SPPR1 was examined in untreated and tumor promoter-treated mouse skin, hair follicles, and skin neoplasms.", "output": {"entities": {"gene": [{"text": "cornifin", "start": 50, "end": 58}], "disease": [{"text": "skin neoplasms", "start": 156, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Family-based methods were used to test association of the 387 loci with resting blood pressures (BPs) [systolic blood pressure (SBP) and diastolic blood pressure (DBP)] and the hypertension status (HT).", "output": {"entities": {"gene": [{"text": "DBP", "start": 163, "end": 166}], "disease": [{"text": "systolic blood pressure", "start": 103, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Therefore, one missense mutation (Thr831--& gt; Ala831) in the insulin receptor, as found in three patients, is possibly involved in the etiology of a subset of the 51 NIDDM patients.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 63, "end": 79}], "disease": [{"text": "NIDDM", "start": 168, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 63, "end": 79}, "tail": {"text": "NIDDM", "start": 168, "end": 173}}]}}, "schema": []}
{"input": "In this study, methylation levels of seven biomarkers (EOMES, GDF15, NID2, PCDH17, POU4F2, TCF21, and ZNF154) in 148 individuals-which including 58 urothelial cell carcinoma (UCC) patients, 20 infected urinary calculi (IUC) patients, 20 kidney cancer (KC) patients, 20 prostate cancer (PC) patients, and 30 healthy volunteers (HV)-were quantified by qMSP using the urine sediment DNA.", "output": {"entities": {"gene": [{"text": "EOMES", "start": 55, "end": 60}], "disease": [{"text": "carcinoma", "start": 164, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "These data show that long-term PDE5A treatment corrected CVOD in the aged rat and partially reversed the aging-related fibrosis and loss of SMC in the corpora cavernosa without affecting TGFB1 or PTPN11 levels, which are markers of oxidative stress.", "output": {"entities": {"gene": [{"text": "SMC", "start": 140, "end": 143}], "disease": [{"text": "fibrosis", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Similarly, in GEP tumors, a higher TS expression in poorly differentiated carcinomas than both WD-NEC and benign tumors (P < 0. 01) was found.", "output": {"entities": {"gene": [{"text": "GEP", "start": 14, "end": 17}], "disease": [{"text": "carcinomas", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the cytotoxic effects of CHK1 inhibitors are enhanced after reoxygenation following prolonged hypoxia, most likely due to the increased replication-associated DNA damage.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 52, "end": 56}], "disease": [{"text": "hypoxia", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The addition of enfuvirtide to the failing regimen induced at week 4 a viraemia decrease from 5. 1 to 4. 3 log (10)/mL (P = 0. 0002) and a CD4 increase from 48 to 106 cells/mm (3) (P = 0. 008).", "output": {"entities": {"gene": [{"text": "CD4", "start": 139, "end": 142}], "disease": [{"text": "viraemia", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcription factor.", "output": {"entities": {"gene": [{"text": "TFAP2B", "start": 75, "end": 81}], "disease": [{"text": "Char syndrome", "start": 35, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TFAP2B", "start": 75, "end": 81}, "tail": {"text": "Char syndrome", "start": 35, "end": 48}}]}}, "schema": []}
{"input": "Immunohistochemical analysis demonstrated that 221 (30%) of 749 GC cases were positive for HOXA10, whereas HOXA10 was scarcely expressed in non-neoplastic gastric mucosa except in the case of intestinal metaplasia.", "output": {"entities": {"gene": [{"text": "HOXA10", "start": 91, "end": 97}], "disease": [{"text": "non-neoplastic", "start": 140, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In primary mammary carcinomas, five (Angptl4, Coro1a, RGD1304982, Tmem37 and Ndn) of the 29 genes were methylated in one or more of 25 samples.", "output": {"entities": {"gene": [{"text": "Tmem37", "start": 66, "end": 72}], "disease": [{"text": "carcinomas", "start": 19, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Tmem37", "start": 66, "end": 72}, "tail": {"text": "carcinomas", "start": 19, "end": 29}}]}}, "schema": []}
{"input": "Serum amyloid A induces G-CSF expression and neutrophilia via Toll-like receptor 2.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 2", "start": 62, "end": 82}], "disease": [{"text": "neutrophilia", "start": 45, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The presence of cytogenetic aberrations on mesenchymal stem cells (MSC) from myelodysplastic syndrome (MDS) patients is controversial.", "output": {"entities": {"gene": [{"text": "MSC", "start": 67, "end": 70}], "disease": [{"text": "cytogenetic aberrations", "start": 16, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Early SLE disease onset, the presence of photosensitive rashes, anti-Ro/SSA, renal disease and high titers of antinuclear antibodies were the common features of complete C4 deficiency.", "output": {"entities": {"gene": [{"text": "SSA", "start": 72, "end": 75}], "disease": [{"text": "rashes", "start": 56, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Total human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP) were measured in maternal serum at 10-14 weeks of gestation from 53 pregnancies affected by trisomy 18, 42 cases with trisomy 13, 46 with Turner' s syndrome and 13 with other sex aneuploides.", "output": {"entities": {"gene": [{"text": "AFP", "start": 64, "end": 67}], "disease": [{"text": "trisomy 13", "start": 187, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "These aggressive tumors were also characterized by overexpression of the integrin ligand periostin, and in some biopsies also of osteopontin and of the upstream Rac-regulator dedicator of cytokinesis 10 (DOCK10).", "output": {"entities": {"gene": [{"text": "dedicator of cytokinesis 10", "start": 175, "end": 202}], "disease": [{"text": "tumors", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 109, "end": 113}], "disease": [{"text": "CD", "start": 28, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 109, "end": 113}, "tail": {"text": "CD", "start": 28, "end": 30}}]}}, "schema": []}
{"input": "Packaged AAV-hVEGF165 and AAV-TGF-β1 were co-transfected into the annulus fibrosus cells of degenerative intervertebral discs.", "output": {"entities": {"gene": [{"text": "AAV", "start": 9, "end": 12}], "disease": [{"text": "degenerative intervertebral discs", "start": 92, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase and tensin homologue, deleted on chromosome 10) is a tumor suppressor with dual phosphatase activity and mutations of its gene, PTEN, have been associated with many sporadic cancers and heritable neoplasia syndromes, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.", "output": {"entities": {"gene": [{"text": "tensin", "start": 22, "end": 28}], "disease": [{"text": "cancers", "start": 192, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Enhanced serpinA1 expression was significantly associated with increased tumour size, advanced T stage, perineural invasion, lymphovascular invasion, lymph node metastases, and shorter overall survival.", "output": {"entities": {"gene": [{"text": "serpinA1", "start": 9, "end": 17}], "disease": [{"text": "lymph node metastases", "start": 150, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.", "output": {"entities": {"gene": [{"text": "POMC", "start": 117, "end": 121}], "disease": [{"text": "skin color", "start": 182, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "We compared the transduction efficiency of AAV2 vectors with an AAV2 capsid (AAV2/2) to AAV2 vectors pseudotyped with AAV5 (AAV2/5), AAV8 (AAV2/8) or bovine adeno-associated virus (BAAV) capsids, or an AAV2 capsid with an insertion of the low density lipoprotein receptor ligand from apolipoprotein E (AAV2apoE), on cultured islets, in the presence of helper adenovirus infection to speed expression of a GFP transgene.", "output": {"entities": {"gene": [{"text": "low density lipoprotein receptor", "start": 239, "end": 271}], "disease": [{"text": "adenovirus infection", "start": 359, "end": 379}]}, "relations": {}}, "schema": []}
{"input": "Interactions between dietary vitamin E intake and SIRT1 genetic variation influence body mass index.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 50, "end": 55}], "disease": [{"text": "body mass index", "start": 84, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull.", "output": {"entities": {"gene": [{"text": "ADAMTS18 gene", "start": 86, "end": 99}], "disease": [{"text": "developmental disorder", "start": 156, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Decreased chemotactic response and expression of CD11a found in this experimental model of depression could be important mechanisms to induce impairment immune response in experimental and clinical depression.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 49, "end": 54}], "disease": [{"text": "clinical depression", "start": 189, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD11a", "start": 49, "end": 54}, "tail": {"text": "clinical depression", "start": 189, "end": 208}}]}}, "schema": []}
{"input": "Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.", "output": {"entities": {"gene": [{"text": "HEXA", "start": 12, "end": 16}], "disease": [{"text": "Tay-Sachs disease", "start": 64, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEXA", "start": 12, "end": 16}, "tail": {"text": "Tay-Sachs disease", "start": 64, "end": 81}}]}}, "schema": []}
{"input": "We conclude that the patient' s MCEE defect was responsible for the mild methylmalonic aciduria, confirming a partial requirement for the enzymatic activity in humans.", "output": {"entities": {"gene": [{"text": "MCEE", "start": 32, "end": 36}], "disease": [{"text": "mild", "start": 68, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that transcriptional silencing by DAX-1 plays a critical role in the pathogenesis of adrenal hypoplasia congenita.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 57, "end": 62}], "disease": [{"text": "adrenal hypoplasia congenita", "start": 108, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 57, "end": 62}, "tail": {"text": "adrenal hypoplasia congenita", "start": 108, "end": 136}}]}}, "schema": []}
{"input": "These results suggest that hepatic steatosis causes the enhancement of hepatic GLUT2 mRNA expression, which may be associated with gluconeogenesis and insulin resistance.", "output": {"entities": {"gene": [{"text": "GLUT2", "start": 79, "end": 84}], "disease": [{"text": "hepatic steatosis", "start": 27, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLUT2", "start": 79, "end": 84}, "tail": {"text": "hepatic steatosis", "start": 27, "end": 44}}]}}, "schema": []}
{"input": "Epstein-Barr virus (EBV) is also involved in PAL, similar to lymphomas in immunodeficient patients.", "output": {"entities": {"gene": [{"text": "PAL", "start": 45, "end": 48}], "disease": [{"text": "lymphomas", "start": 61, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The neu gene (also called erbB-2 and HER-2) encodes such a receptor tyrosine kinase whose oncogenic potential is released in the developing rodent nervous system through a point mutation.", "output": {"entities": {"gene": [{"text": "HER-2", "start": 37, "end": 42}], "disease": [{"text": "nervous system", "start": 147, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 33, "end": 49}], "disease": [{"text": "Donohue syndrome", "start": 80, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 33, "end": 49}, "tail": {"text": "Donohue syndrome", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "Eighths days after placement of the ligature, we evaluated several markers of inflammation such us (1) myeloperoxidase activity, (2) a cytokines and adhesion molecules expression, (3) NF-κB expression, (4) iNOS expression, (5) the nitration of tyrosine residues, (6) activation of the nuclear enzyme poly (ADP-ribose) polymerase, (7) apoptosis, and (8) the degree of gingivomucosal tissues injury.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 184, "end": 189}], "disease": [{"text": "adhesion", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "1 Urocortin is a vasodilator peptide related to corticotrophin-releasing factor, which may protect endothelial function during coronary ischemia-reperfusion (I-R).", "output": {"entities": {"gene": [{"text": "Urocortin", "start": 2, "end": 11}], "disease": [{"text": "ischemia", "start": 136, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The minor allele in FDFT1 was associated with advanced fibrosis in the non-steatotic but not in the steatotic subgroup.", "output": {"entities": {"gene": [{"text": "FDFT1", "start": 20, "end": 25}], "disease": [{"text": "fibrosis", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "MRP5 mRNA expression in pancreatic adenocarcinoma cell lines correlated significantly with cellular sensitivity to 5-fluorouracil (5-FU) (r = 0. 738, p < 0. 05).", "output": {"entities": {"gene": [{"text": "MRP5", "start": 0, "end": 4}], "disease": [{"text": "pancreatic adenocarcinoma", "start": 24, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In dry eye, 46 glycogenes were significantly downregulated, including five members of the Notch signaling pathway (Notch1, Notch 2, Notch 3, Jagged1, Delta1), four Wnt signaling molecules (Wnt4,-5A, Frizzled6,-7), and three heparan sulfate glycotransferases (HS2ST1, HS3ST6, EXTL2).", "output": {"entities": {"gene": [{"text": "HS3ST6", "start": 267, "end": 273}], "disease": [{"text": "dry eye", "start": 3, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "The effects of recombinant human soluble CD14 (rh-sCD14) on insulin sensitivity (clamp procedure) and adipose tissue gene expression were evaluated in wild-type (WT) mice, high fat-fed mice, ob/ob mice, and CD14 knockout (KO) mice.", "output": {"entities": {"gene": [{"text": "CD14", "start": 41, "end": 45}], "disease": [{"text": "insulin sensitivity", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome.", "output": {"entities": {"gene": [{"text": "DBS", "start": 108, "end": 111}], "disease": [{"text": "wrinkly skin syndrome", "start": 115, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In vitro, loss of REDD1 signaling promotes proliferation and anchorage-independent growth under hypoxia through mTORC1 dysregulation.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 112, "end": 118}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the CXCR3-associated chemokines, particularly CXCL10, may play an important role in the development of necroinflammation and fibrosis in the liver parenchyma in chronic HCV infection.", "output": {"entities": {"gene": [{"text": "CXCL10", "start": 74, "end": 80}], "disease": [{"text": "fibrosis", "start": 153, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The sporadic counterparts of these tumors also carry a high incidence of p53 mutations, suggesting that in these tissues p53 mutations are capable of initiating the process of malignant transformation.", "output": {"entities": {"gene": [{"text": "p53", "start": 73, "end": 76}], "disease": [{"text": "sporadic", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "IL-18 also increased the ratio of RANKL/OPG, suggesting that the net effect of IL-18 on FLS favors for the induction of osteoclast formation and bone resorption.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 0, "end": 5}], "disease": [{"text": "bone resorption", "start": 145, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung' s disease suggesting a role for imprinting.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 28, "end": 46}], "disease": [{"text": "familial medullary thyroid carcinoma", "start": 63, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 28, "end": 46}, "tail": {"text": "familial medullary thyroid carcinoma", "start": 63, "end": 99}}]}}, "schema": []}
{"input": "These results reveal that CFTR in keratinocytes plays a critical role for the regulation of peripheral nerve function and pruritus sensation, and suggest that Cftr (ΔF508/ΔF508) mice may serve as a novel mouse model that represents NGF-dependent generation of pruritus.", "output": {"entities": {"gene": [{"text": "NGF", "start": 232, "end": 235}], "disease": [{"text": "pruritus", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Racial differences in the association between body mass index and serum IGF1, IGF2, and IGFBP3.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 78, "end": 82}], "disease": [{"text": "body mass index", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "IL-4 in combination with PGE2 may enhance estrogen production in endometriotic tissues, implying an elaborate mechanism that Th2 immune response augments inflammation-dependent progression of the disease.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 154, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy.", "output": {"entities": {"gene": [{"text": "MIM", "start": 60, "end": 63}], "disease": [{"text": "developmental disorder", "start": 84, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "No significant differences in allele and genotype frequencies of the htSNPs were observed between pituitary adenoma patients and controls, indicating that none of the individual PTTG1 SNPs examined in this study is associated with the risk of pituitary adenoma.", "output": {"entities": {"gene": [{"text": "PTTG1", "start": 178, "end": 183}], "disease": [{"text": "pituitary adenoma", "start": 98, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "These observations establish human vascular EC, SMC, and human macrophages as a novel source of CD40L, and point to T cell-independent CD40 signaling, and a broader function of this pathway in regulation of nonimmune cells, as illustrated here by potential autocrine and paracrine activation during atherogenesis.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 96, "end": 101}], "disease": [{"text": "atherogenesis", "start": 299, "end": 312}]}, "relations": {}}, "schema": []}
{"input": "Based on these findings, CD4 + T cells with BCR-ABL specificity do not appear to be mediators of the anti-leukemia response in vivo after donor lymphocyte infusion.", "output": {"entities": {"gene": [{"text": "CD4", "start": 25, "end": 28}], "disease": [{"text": "leukemia", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "GFAP gene activation and protein induction appear to play a critical role in astroglial cell activation (astrogliosis) following CNS injuries and neurodegeneration.", "output": {"entities": {"gene": [{"text": "GFAP gene", "start": 0, "end": 9}], "disease": [{"text": "neurodegeneration", "start": 146, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, SEMA3B was upregulated in the SK-N-BE neuroblastoma cell line following induction of differentiation with retinoic acid.", "output": {"entities": {"gene": [{"text": "SEMA3B", "start": 13, "end": 19}], "disease": [{"text": "neuroblastoma", "start": 51, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEMA3B", "start": 13, "end": 19}, "tail": {"text": "neuroblastoma", "start": 51, "end": 64}}]}}, "schema": []}
{"input": "The aim of this study was to test whether the phenotypic expression of the LPL Asn291Ser variant is dependent upon glucose tolerance and insulin resistance.", "output": {"entities": {"gene": [{"text": "LPL", "start": 75, "end": 78}], "disease": [{"text": "insulin resistance", "start": 137, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Additionally, IGF2 methylation varies as a function of environmental influences and is associated with schizophrenia and MetS.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 14, "end": 18}], "disease": [{"text": "schizophrenia", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF2", "start": 14, "end": 18}, "tail": {"text": "schizophrenia", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "Coexpression of IL-11Ralpha and gp130 was commonly observed in both benign ovarian tumors and in the epithelial layer of normal ovaries.", "output": {"entities": {"gene": [{"text": "gp130", "start": 32, "end": 37}], "disease": [{"text": "ovarian tumors", "start": 75, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gp130", "start": 32, "end": 37}, "tail": {"text": "ovarian tumors", "start": 75, "end": 89}}]}}, "schema": []}
{"input": "We assessed single-nucleotide polymorphisms (SNPs; n = 42) in four of these key genes (JAG1, HES1, NOTCH3 and ADAM10) for association with diabetic nephropathy using a case-control design.", "output": {"entities": {"gene": [{"text": "HES1", "start": 93, "end": 97}], "disease": [{"text": "diabetic nephropathy", "start": 139, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.", "output": {"entities": {"gene": [{"text": "FAM111A", "start": 20, "end": 27}], "disease": [{"text": "Kenny-Caffey syndrome type 2", "start": 44, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM111A", "start": 20, "end": 27}, "tail": {"text": "Kenny-Caffey syndrome type 2", "start": 44, "end": 72}}]}}, "schema": []}
{"input": "CD4 (+) cells were present in androgenised ovaries, especially in the granulosa cell layer of cysts with high VCAM-1 expression.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "cysts", "start": 94, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In summary, we found that liver transplant recipients with IL-28B CC tended to have less advanced fibrosis prior to and significantly less after SOC treatment and that all recipients with IL-28B CC who achieved SVR had mild fibrosis at follow-up.", "output": {"entities": {"gene": [{"text": "SOC", "start": 145, "end": 148}], "disease": [{"text": "fibrosis", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Whether IL-2 is also required for autoimmune disease development is less clear as Il2 (-/) (-) mice themselves spontaneously develop multi-organ inflammation (MOI).", "output": {"entities": {"gene": [{"text": "Il2", "start": 82, "end": 85}], "disease": [{"text": "inflammation", "start": 145, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Treatment of minimal residual disease after surgery or chemotherapy in mice carrying HPV16-associated tumours: Cytokine and gene therapy with IL-2 and GM-CSF.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 151, "end": 157}], "disease": [{"text": "minimal residual disease", "start": 13, "end": 37}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GM-CSF", "start": 151, "end": 157}, "tail": {"text": "minimal residual disease", "start": 13, "end": 37}}]}}, "schema": []}
{"input": "This study supports the role of CYP1B1 as a causative gene in Peters anomaly.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 32, "end": 38}], "disease": [{"text": "Peters anomaly", "start": 62, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP1B1", "start": 32, "end": 38}, "tail": {"text": "Peters anomaly", "start": 62, "end": 76}}]}}, "schema": []}
{"input": "In animal models of hemorrhage and sepsis, CIRP is upregulated in the heart and liver and released into the circulation.", "output": {"entities": {"gene": [{"text": "CIRP", "start": 43, "end": 47}], "disease": [{"text": "hemorrhage", "start": 20, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "This mutation was recently described in a family of Italian descent with CVT and Charcot-Marie-Tooth deformity HOXD10 gene mutations were not identified in any of the other families or sporadic patients with CVT, suggesting that genetic heterogeneity underlies this disorder.", "output": {"entities": {"gene": [{"text": "HOXD10 gene", "start": 111, "end": 122}], "disease": [{"text": "sporadic", "start": 185, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the genomic instability phenotype by chromosome analysis of control and COX2 transfected metaphase-arrested MCF7 cells after Giemsa staining.", "output": {"entities": {"gene": [{"text": "COX2", "start": 84, "end": 88}], "disease": [{"text": "genomic instability", "start": 16, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "To examine whether women with a personal or family history of preterm birth are more likely to have genetic variation in the human progesterone receptor (hPR).", "output": {"entities": {"gene": [{"text": "progesterone receptor", "start": 131, "end": 152}], "disease": [{"text": "preterm birth", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The variant allele of NFKB1-94 ins/del ATTG (rs28362491) polymorphism is associated with higher risk of sporadic CRC in Malaysian population.", "output": {"entities": {"gene": [{"text": "NFKB1", "start": 22, "end": 27}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Normal levels of the methyl CpG-binding protein 2 (MeCP2) are critical to neurologic functioning, and slight alterations result in intellectual disability and autistic features.", "output": {"entities": {"gene": [{"text": "CpG-binding protein", "start": 28, "end": 47}], "disease": [{"text": "intellectual disability", "start": 131, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Her son' s axial length was shortened with refractive errors of + 16. 75 dioptres in the right and + 14. 0 dioptres in the left eye; ERG evidenced a rod-cone dystrophy, OCT showed central macular thickening with cystoid changes and ultrasonography revealed optic disc drusen.", "output": {"entities": {"gene": [{"text": "ERG", "start": 133, "end": 136}], "disease": [{"text": "rod-cone dystrophy", "start": 149, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "shRNA knockdown of NFAT5 suppressed the induction of Hsp70 protein and overexpression of NFAT5 stimulated the induction of Hsp70 mRNA and protein in models of human placental hypoxia in vitro.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 53, "end": 58}], "disease": [{"text": "hypoxia", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Following that, the recombinant adenovirus was transfected into the P-glycoprotein-producing multidrug resistance cell line, SMMC7721/ADM human HCC cells resistant to adriamycin (ADM) and daunorubicin (DNR).", "output": {"entities": {"gene": [{"text": "HCC", "start": 144, "end": 147}], "disease": [{"text": "adenovirus", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "HO-1 induction prevented apoptotic liver injury, measured by inhibition of caspase 3 activation, although it did not protect mice from caspase-3-independent necrotic liver damage caused by concanavalin A (Con A) administration.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 75, "end": 84}], "disease": [{"text": "necrotic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "STWS patients may develop central adrenal insufficiency due to impaired LIF/LIFR signalling.", "output": {"entities": {"gene": [{"text": "LIFR", "start": 76, "end": 80}], "disease": [{"text": "central adrenal insufficiency", "start": 26, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We have employed a 4. 7-Tesla MRI instrument to determine whether a noninvasive imaging approach can reveal pathological changes in the nervous system of this animal model.", "output": {"entities": {"gene": [{"text": "MRI", "start": 30, "end": 33}], "disease": [{"text": "nervous system", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Six SGBS patients showed point mutations in GPC3.", "output": {"entities": {"gene": [{"text": "GPC3", "start": 44, "end": 48}], "disease": [{"text": "SGBS", "start": 4, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPC3", "start": 44, "end": 48}, "tail": {"text": "SGBS", "start": 4, "end": 8}}]}}, "schema": []}
{"input": "The aims of the present study were to investigate further genetic alterations in the BGP foci and to clarify the mechanism of' de novo' carcinogenesis.", "output": {"entities": {"gene": [{"text": "BGP", "start": 85, "end": 88}], "disease": [{"text": "carcinogenesis", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Fine-tuning of Drp1/Fis1 availability by AKAP121/Siah2 regulates mitochondrial adaptation to hypoxia.", "output": {"entities": {"gene": [{"text": "Fis1", "start": 20, "end": 24}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The expression of p42. 3 is upregulated in human gastric cancer (GC), but its underlying mechanisms of action are not well understood.", "output": {"entities": {"gene": [{"text": "p42. 3", "start": 18, "end": 24}], "disease": [{"text": "gastric cancer", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.", "output": {"entities": {"gene": [{"text": "NSUN2", "start": 102, "end": 107}], "disease": [{"text": "ASD", "start": 194, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NSUN2", "start": 102, "end": 107}, "tail": {"text": "ASD", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "The epigenetic regulation of SPP1 was confirmed in vitro, and the functional impact of SPP1 protein on tumorigenesis-related signaling pathways was demonstrated.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 29, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In CD206-DT receptor Tg mice given DT, endotoxin challenge exaggerated lung inflammation, including up-regulation of proinflammatory cytokines and increased histological lung damage, but the endotoxemia-induced increase in NF-κB activity was significantly reduced, suggesting that M2 phenotype-dependent counteraction of inflammatory insult cannot be attributed to the inhibition of the NF-κB pathway.", "output": {"entities": {"gene": [{"text": "CD206", "start": 3, "end": 8}], "disease": [{"text": "endotoxemia", "start": 191, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Knockout mice for the beta2 subunit have impaired neuronal survival in ageing.", "output": {"entities": {"gene": [{"text": "beta2", "start": 22, "end": 27}], "disease": [{"text": "ageing", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "However, positive correlation is lost in metastatic tumors, suggesting that LOX expression is independent of a hypoxic environment at later stages of tumor progression.", "output": {"entities": {"gene": [{"text": "LOX", "start": 76, "end": 79}], "disease": [{"text": "hypoxic", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The FIP1L1-PDGFRalpha-associated patients diagnosed with CEL, frequently had hepatosplenomegaly, eosinophil-related tissue damage, anemia, thrombocytopenia, myelofibrosis and a short overall survival time.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 4, "end": 10}], "disease": [{"text": "hepatosplenomegaly", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "If mutations in SP4 do cause retinal degenerative disease, their frequency would be low.", "output": {"entities": {"gene": [{"text": "SP4", "start": 16, "end": 19}], "disease": [{"text": "degenerative disease", "start": 37, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.", "output": {"entities": {"gene": [{"text": "PRPF31", "start": 98, "end": 104}], "disease": [{"text": "RP11", "start": 44, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRPF31", "start": 98, "end": 104}, "tail": {"text": "RP11", "start": 44, "end": 48}}]}}, "schema": []}
{"input": "The frequencies of HLA-DRB1 * 01 and HLA-B * 14: 02 were significantly lower in patients suffering from megacolon as well as in those with ECG alteration and/or megacolon compared with a group of patients with indeterminate symptoms.", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 37, "end": 42}], "disease": [{"text": "megacolon", "start": 104, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency.", "output": {"entities": {"gene": [{"text": "fXI", "start": 128, "end": 131}], "disease": [{"text": "factor XI deficiency", "start": 188, "end": 208}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fXI", "start": 128, "end": 131}, "tail": {"text": "factor XI deficiency", "start": 188, "end": 208}}]}}, "schema": []}
{"input": "Our results demonstrated that CD7 (+) AML expressed Ang-2 mRNA frequently and integrin-family adhesion molecules (CD11c and CD18) intensively, suggesting the close correlation with endothelial cells.", "output": {"entities": {"gene": [{"text": "CD7", "start": 30, "end": 33}], "disease": [{"text": "adhesion", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Multiple genes showed significant evidence of differential methylation, several appearing in both ulcerative colitis and Crohn' s disease comparisons including THRAP2, FANCC, GBGT1, DOK2, TNFSF4, TNFSF12, and FUT7.", "output": {"entities": {"gene": [{"text": "FANCC", "start": 168, "end": 173}], "disease": [{"text": "ulcerative colitis", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We therefore measured the gene and protein expression levels of proinflammatory cytokines interleukin (IL)-1β, IL-6, and tissue necrosis factor (TNF)-α in the prefrontal cortex (PFC) of 24 teenage suicide victims and 24 matched normal control subjects.", "output": {"entities": {"gene": [{"text": "PFC", "start": 178, "end": 181}], "disease": [{"text": "necrosis", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The bioinformatics data indicate that co-expression of both c-Myc and Pirh2 strongly correlated with poor survival of lung cancer patients.", "output": {"entities": {"gene": [{"text": "Pirh2", "start": 70, "end": 75}], "disease": [{"text": "lung cancer", "start": 118, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pirh2", "start": 70, "end": 75}, "tail": {"text": "lung cancer", "start": 118, "end": 129}}]}}, "schema": []}
{"input": "We demonstrate a previously unrecognized clinical presentation of factor V Leiden homozygosity with severe dyspnea and decreased pulmonary function.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 66, "end": 81}], "disease": [{"text": "pulmonary function", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, dexamethasone is a valuable and cost-effective molecule for chondrogenic and viability induction of IVD cells under normoxic and hypoxic conditions, while insulin and T3 did not show significant differences.", "output": {"entities": {"gene": [{"text": "IVD", "start": 115, "end": 118}], "disease": [{"text": "hypoxic", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to analyze the prognostic value of the expression of the protein tyrosine phosphatase non-receptor type 6 (PTPN6, also referred to as SHP1) in high-grade glioma patients, the epigenetic regulation of the expression of PTPN6, and the role of its expression in chemotherapy resistance in glioma-derived cells.", "output": {"entities": {"gene": [{"text": "PTPN6", "start": 135, "end": 140}], "disease": [{"text": "glioma", "start": 182, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Rats treated with AG (25 and 50 mg/kg), GED (2. 5 mg/kg), and 1400W (0. 1 mg/kg) showed decreased total ulcer length and MPO activity by 51, 72, 53, and 61% and by 58, 88, 68, and 70%, respectively, compared to INDO alone.", "output": {"entities": {"gene": [{"text": "INDO", "start": 211, "end": 215}], "disease": [{"text": "ulcer", "start": 104, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.", "output": {"entities": {"gene": [{"text": "HCC", "start": 123, "end": 126}], "disease": [{"text": "chronic hepatitis", "start": 149, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 167, "end": 171}], "disease": [{"text": "pituitary hormone deficiency", "start": 45, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the human CRYM gene lead to non-syndromic deafness, and mutations in the Cryz gene of guinea pigs cause cataracts.", "output": {"entities": {"gene": [{"text": "CRYM gene", "start": 23, "end": 32}], "disease": [{"text": "deafness", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Patients with tachycardia or hepatotoxicity exhibited significantly higher TNF-alpha levels after ILP, compared with other patients.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 75, "end": 84}], "disease": [{"text": "tachycardia", "start": 14, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF-alpha", "start": 75, "end": 84}, "tail": {"text": "tachycardia", "start": 14, "end": 25}}]}}, "schema": []}
{"input": "Recent studies have suggested that a missense Trp64Arg mutation in the beta3 adrenergic receptor (ADRB3) gene was involved in obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 98, "end": 103}], "disease": [{"text": "insulin resistance", "start": 138, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that mutations of presenilin (PS) 1 and 2, which cause familial early-onset AD (FAD), induce more severe lysosomal system neuropathology in humans than does sporadic AD (SAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 94, "end": 97}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Transactive response DNA-binding protein 43 pathology occurs in FAD and DS, similar to that observed in sporadic Alzheimer disease.", "output": {"entities": {"gene": [{"text": "FAD", "start": 64, "end": 67}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "IGF-II may therefore contribute to the mechanisms of neuroprotection by acting as an antioxidant, reducing the neurodegeneration induced by oxidative insults.", "output": {"entities": {"gene": [{"text": "IGF-II", "start": 0, "end": 6}], "disease": [{"text": "neurodegeneration", "start": 111, "end": 128}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-II", "start": 0, "end": 6}, "tail": {"text": "neurodegeneration", "start": 111, "end": 128}}]}}, "schema": []}
{"input": "The causes of chronic (CP) and recurrent acute pancreatitis (RAP) in children include anatomic abnormalities and hereditary, metabolic, and autoimmune disorders, with a significant proportion of cases being labeled as idiopathic.", "output": {"entities": {"gene": [{"text": "RAP", "start": 61, "end": 64}], "disease": [{"text": "recurrent acute pancreatitis", "start": 31, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Importantly, variations within the HHEX/KIF11/IDE and CDKN2A/B loci confer impaired glucose-and tolbutamide-induced insulin release in middle-aged and young healthy subjects, suggesting a role for these variants in the pathogenesis of pancreatic beta-cell dysfunction.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 54, "end": 60}], "disease": [{"text": "beta-cell dysfunction", "start": 246, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "This pilot study explored the mechanism of these immunoglobulin preparations by measuring interleukin-10 (IL-10), monocyte chemoattractant protein-1 (MCP-1), IL-6 and tumour necrosis factor alpha (TNFalpha), before and after infusion and by assessing the effect of FcgammaRIIa and FcgammaRIIIa polymorphisms on both cytokine and haematologic responses to anti-D.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 150, "end": 155}], "disease": [{"text": "necrosis", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observed in M-D due to SGCE mutations.", "output": {"entities": {"gene": [{"text": "KCTD17", "start": 33, "end": 39}], "disease": [{"text": "M-D", "start": 106, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCTD17", "start": 33, "end": 39}, "tail": {"text": "M-D", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "The novel mutation reported here, COL4A5 arg1677gln, has been detected in three independently ascertained Ashkenazi-American families, causes a relatively mild form of nephritis with typical onset in the fourth or fifth decade, and may be involved in the etiology of a large proportion of adult-onset hereditary nephritis in Ashkenazi Jews.", "output": {"entities": {"gene": [{"text": "COL4A5", "start": 34, "end": 40}], "disease": [{"text": "mild", "start": 155, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "This dose of As2O3 significantly induced apoptosis and growth retardation of HNE1-LMP1 cells.", "output": {"entities": {"gene": [{"text": "LMP1", "start": 82, "end": 86}], "disease": [{"text": "growth retardation", "start": 55, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Tumors manifesting monosomy-3 were also characterized by higher levels of TARBP2 and DDX17 and by lower levels of XPO5 and HIWI, miR biogenesis factors.", "output": {"entities": {"gene": [{"text": "HIWI", "start": 123, "end": 127}], "disease": [{"text": "monosomy", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The chromosomal translocation t (7; 11) (p15; p15), observed in human myeloid leukemia, results in a NUP98 and HOXA9 gene fusion.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 101, "end": 106}], "disease": [{"text": "chromosomal translocation", "start": 4, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Appropriate shock was more frequent in patients with SCN5A mutations than in those without (6. 6 ± 6. 2 vs 1. 7 ± 3. 0, P = 0. 007).", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 53, "end": 58}], "disease": [{"text": "shock", "start": 12, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "p53 tumor suppressor gene status and the degree of genomic instability in sporadic colorectal cancers.", "output": {"entities": {"gene": [{"text": "p53 tumor suppressor gene", "start": 0, "end": 25}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Here we showed that miR-100 downregulation in HCC tissues was significantly associated with venous invasion, advanced TNM stage, tumor nodule without complete capsule, poorer cell differentiation, and shorter recurrence-free survival.", "output": {"entities": {"gene": [{"text": "HCC", "start": 46, "end": 49}], "disease": [{"text": "nodule", "start": 135, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The course of HAV viremia in a homosexual male with human immunodeficiency virus type 1 (HIV-1) and the correlation between HIV and HAV viral load, alanine aminotranferase (ALT) level, and CD4 (+) lymphocyte count were investigated during the course of the infection.", "output": {"entities": {"gene": [{"text": "CD4", "start": 189, "end": 192}], "disease": [{"text": "viremia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Jun-like immunoreactivity allows an evaluation of events at later recirculation intervals, and provides a clear demonstration of synthesis and accumulation of induced protein in CA1 neurons at 6 h following 2 min ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 178, "end": 181}], "disease": [{"text": "ischemia", "start": 213, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "LRRC6", "start": 30, "end": 35}], "disease": [{"text": "primary ciliary dyskinesia", "start": 121, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRRC6", "start": 30, "end": 35}, "tail": {"text": "primary ciliary dyskinesia", "start": 121, "end": 147}}]}}, "schema": []}
{"input": "Here we report two siblings with familial ACTH unresponsiveness who were discrepant for skin pigmentation and mineralocorticoid function.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 42, "end": 46}], "disease": [{"text": "skin pigmentation", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "As hypoxia is a stimulus in chronic tuberculosis infection, we analyzed transcriptional profiles of MTB subject to 168 hours of hypoxia to test the hypothesis that upregulation by hypoxia might result in gene products being recognized as antigens.", "output": {"entities": {"gene": [{"text": "MTB", "start": 100, "end": 103}], "disease": [{"text": "tuberculosis infection", "start": 36, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "RT1 (u) rats, development of thyroiditis was prevented by the transfer of CD4 (+) CD45RC-and CD4 (+) CD8 (-) thymocytes from normal donors but not by CD4 (+) CD45RC + peripheral T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 74, "end": 77}], "disease": [{"text": "thyroiditis", "start": 29, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "We studied 337 infertile men with different spermatogenic impairment and 263 normozoospermic fertile men using AZFc specific sequence tagged site markers and DAZ specific single nucleotide variants.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 158, "end": 161}], "disease": [{"text": "infertile", "start": 15, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "HCC cells were infected with adenovirus carrying Mfn2 (Ad-mfn2) or green fluorescent protein (Ad-GFP), used as a control.", "output": {"entities": {"gene": [{"text": "HCC", "start": 0, "end": 3}], "disease": [{"text": "adenovirus", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Observed associations between serum CRP and insulin resistance, glycemia, and diabetes are likely to be noncausal.", "output": {"entities": {"gene": [{"text": "CRP", "start": 36, "end": 39}], "disease": [{"text": "insulin resistance", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "However, both before and after adjustment for sex, age, age (2), body-mass index, current smoking, alcohol intake, and antihypertensive treatment, the alpha-adducin polymorphism was significantly (P < 0. 02) associated with central systolic blood pressure and central pulse pressure.", "output": {"entities": {"gene": [{"text": "alpha-adducin", "start": 151, "end": 164}], "disease": [{"text": "alcohol intake", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We determined the expression level and methylation status of DLEC1 in non-small-cell lung cancer (NSCLC), and the DLEC1 methylation in plasma DNA as a biomarker for NSCLC was further evaluated.", "output": {"entities": {"gene": [{"text": "DLEC1", "start": 61, "end": 66}], "disease": [{"text": "lung cancer", "start": 85, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Multiple myeloma patients with a methylated EGLN3 promoter showed trends towards an increased risk of death, bone lytic lesions, anaemia, advanced stage of disease and the presence of extramedullary disease.", "output": {"entities": {"gene": [{"text": "EGLN3", "start": 44, "end": 49}], "disease": [{"text": "anaemia", "start": 129, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Thus, while PKCepsilon is present in most dorsal root ganglion neurons, where it can contribute to acute mechanical hyperalgesia, priming is restricted to IB4 (+)-nociceptors, including those that are TrkA (+).", "output": {"entities": {"gene": [{"text": "PKCepsilon", "start": 12, "end": 22}], "disease": [{"text": "mechanical hyperalgesia", "start": 105, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PKCepsilon", "start": 12, "end": 22}, "tail": {"text": "mechanical hyperalgesia", "start": 105, "end": 128}}]}}, "schema": []}
{"input": "This is the first study to identify genes aberrantly methylated in rat mammary carcinomas, and Angptl4 is a novel methylation-silenced gene both in rat and human mammary carcinomas.", "output": {"entities": {"gene": [{"text": "Angptl4", "start": 95, "end": 102}], "disease": [{"text": "carcinomas", "start": 79, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angptl4", "start": 95, "end": 102}, "tail": {"text": "carcinomas", "start": 79, "end": 89}}]}}, "schema": []}
{"input": "Yfm1 deletions in the oligo-and azoospermic males were associated with other deletions that removed entire DAZ genes in those infertile men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 107, "end": 110}], "disease": [{"text": "infertile", "start": 126, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that CHRNA4 and CHRNB2 do not play a major role in Japanese schizophrenia.", "output": {"entities": {"gene": [{"text": "CHRNB2", "start": 36, "end": 42}], "disease": [{"text": "schizophrenia", "start": 80, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNB2", "start": 36, "end": 42}, "tail": {"text": "schizophrenia", "start": 80, "end": 93}}]}}, "schema": []}
{"input": "Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.", "output": {"entities": {"gene": [{"text": "CCDC65", "start": 83, "end": 89}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 109, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC65", "start": 83, "end": 89}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 109, "end": 135}}]}}, "schema": []}
{"input": "This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation.", "output": {"entities": {"gene": [{"text": "F7 gene", "start": 141, "end": 148}], "disease": [{"text": "deficiency state", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Spindle cell lipoma (SCL) is a relatively uncommon, benign tumor that usually presents in the subcutaneous fat of adult men.", "output": {"entities": {"gene": [{"text": "SCL", "start": 21, "end": 24}], "disease": [{"text": "benign tumor", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Using data from the Collaborative Study on the Genetics of Alcoholism data set, we found evidence suggesting linkage disequilibrium between DRD2 and ADH3 and quantitative indices of alcoholism and correlated phenotypes corresponding to smoking and personality.", "output": {"entities": {"gene": [{"text": "ADH3", "start": 149, "end": 153}], "disease": [{"text": "smoking", "start": 236, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "The subjects included patients who fulfilled the diagnostic criteria of acute pyelonephritis (APN) and acute lobar nephronia (ALN) without underlying disease or structural anomalies (excluding vesicoureteral reflux).", "output": {"entities": {"gene": [{"text": "ALN", "start": 126, "end": 129}], "disease": [{"text": "vesicoureteral reflux", "start": 193, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In patients with TNFA-308 variant genotypes, the prevalence of flexural eczema was higher (48% and 57%) compared with that in patients presented with wild-type genotype (30%).", "output": {"entities": {"gene": [{"text": "TNFA", "start": 17, "end": 21}], "disease": [{"text": "flexural eczema", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We report on two germline mutations (p. Gly39dup and p. Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy.", "output": {"entities": {"gene": [{"text": "RRAS", "start": 69, "end": 73}], "disease": [{"text": "Noonan syndrome", "start": 289, "end": 304}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RRAS", "start": 69, "end": 73}, "tail": {"text": "Noonan syndrome", "start": 289, "end": 304}}]}}, "schema": []}
{"input": "There were significant relationship between HLA-DRB1 * 08, HLA-DRB1 * 09, HLA-DQB1 * 06 alleles and pneumoconiosis after adjusting age, smoking, beginning age of exposure and cumulative length of exposure with multivariate logistic regression analysis (OR: 7. 804, 0. 225, and 0. 269; 95% CI: 2. 077-29. 307, 0. 083-0. 609 and 0. 117-0. 613 respectively.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 44, "end": 52}], "disease": [{"text": "pneumoconiosis", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Notably, hypermethylation of RUNX3 appeared in 70% (14/20) of human hepatocellular carcinomas.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 29, "end": 34}], "disease": [{"text": "hepatocellular carcinomas", "start": 68, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RUNX3", "start": 29, "end": 34}, "tail": {"text": "hepatocellular carcinomas", "start": 68, "end": 93}}]}}, "schema": []}
{"input": "The antihypertensive effect of calcitonin gene-related peptide in rats with norepinephrine-and angiotensin II-induced hypertension.", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 31, "end": 41}], "disease": [{"text": "hypertension", "start": 118, "end": 130}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "calcitonin", "start": 31, "end": 41}, "tail": {"text": "hypertension", "start": 118, "end": 130}}]}}, "schema": []}
{"input": "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.", "output": {"entities": {"gene": [{"text": "GDAP1", "start": 0, "end": 5}], "disease": [{"text": "Charcot-Marie-Tooth disease type 4A", "start": 27, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDAP1", "start": 0, "end": 5}, "tail": {"text": "Charcot-Marie-Tooth disease type 4A", "start": 27, "end": 62}}]}}, "schema": []}
{"input": "The authors sequenced POLG1, C10ORF2, and ANT1 in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions.", "output": {"entities": {"gene": [{"text": "ANT1", "start": 42, "end": 46}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We have examined the expression of five VEGF receptors (VEGR1/Flt-1, VEGFR2/KDR, Flt-4, neuropilin-1 = NRP-1, NRP-2) in leukemic cells obtained from patients with acute myeloid leukemia (n = 28), chronic myeloid leukemia (n = 14), chronic eosinophilic leukemia (n = 3), chronic myelomonocytic leukemia (n = 9), or mast cell leukemia/systemic mastocytosis (n = 3) as well as in respective cell lines.", "output": {"entities": {"gene": [{"text": "NRP", "start": 103, "end": 106}], "disease": [{"text": "acute myeloid leukemia", "start": 163, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal recessive disorder (MIM #201910) due to mutations in the 21-hydroxylase (CYP21) gene (GDB Accession #M12792).", "output": {"entities": {"gene": [{"text": "CYP21", "start": 159, "end": 164}], "disease": [{"text": "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "start": 0, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 159, "end": 164}, "tail": {"text": "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "start": 0, "end": 63}}]}}, "schema": []}
{"input": "Knockdown of IQGAP1 using siRNA and inhibition of the actin cytoskeleton blocked scratch injury-induced H2O2 production, Nox2 translocation and its interaction with actin, and EC migration toward the injured site.", "output": {"entities": {"gene": [{"text": "IQGAP1", "start": 13, "end": 19}], "disease": [{"text": "translocation", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The present study demonstrates the clinical importance of CVL in combination with inherited thrombophilia in the development of thrombosis in pediatric-oncologic patients.", "output": {"entities": {"gene": [{"text": "CVL", "start": 58, "end": 61}], "disease": [{"text": "thrombophilia", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of aneuploidy in PC-3 cells expressing DN-HSF1 was associated with delayed breakdown of cyclin B1 compared with controls, consistent with a role for wild type HSF1 in the regulation of cyclin B1 degradation, a key step in the control of mitosis.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 53, "end": 57}], "disease": [{"text": "aneuploidy", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the mRNA expression levels of HIF-1 (& #945; and & #946;) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).", "output": {"entities": {"gene": [{"text": "PFKFB3", "start": 137, "end": 143}], "disease": [{"text": "bipolar disorder", "start": 244, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PFKFB3", "start": 137, "end": 143}, "tail": {"text": "bipolar disorder", "start": 244, "end": 260}}]}}, "schema": []}
{"input": "These include probes for all three genes whose polypeptide products combine to form the fibrinogen molecule as well as probes for the prothrombin, Factor IX, Factor VIII, and antithrombin III genes.", "output": {"entities": {"gene": [{"text": "Factor VIII", "start": 158, "end": 169}], "disease": [{"text": "fibrinogen", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "To assess the functional significance of phospholipid hydroperoxidase glutathione peroxidase (PHGPx) under cryptorchidism, PHGPx expression was spatiotemporally analyzed in testes and epididymis excised at 1, 4, 7, 14, 21, and 28 days after experimental bilateral cryptorchidism in adult mice.", "output": {"entities": {"gene": [{"text": "phospholipid hydroperoxidase", "start": 41, "end": 69}], "disease": [{"text": "bilateral cryptorchidism", "start": 254, "end": 278}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phospholipid hydroperoxidase", "start": 41, "end": 69}, "tail": {"text": "bilateral cryptorchidism", "start": 254, "end": 278}}]}}, "schema": []}
{"input": "Here we demonstrate that in vivo AAV-2-mediated gene transfer is efficiently inhibited by unfractionated heparin, but not by a heparin preparation containing mainly low-molecular-weight forms (LMWH).", "output": {"entities": {"gene": [{"text": "AAV", "start": 33, "end": 36}], "disease": [{"text": "weight", "start": 179, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Additionally, an odds ratio (OR) of 4. 53 (2. 62-7. 98) was discovered when investigating smoking and nonsmoking cases for the susceptible genotype CYP1B1 * 2/* 2, when compared with the presence of the genotype wild type.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 148, "end": 154}], "disease": [{"text": "smoking", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The apolipoprotein E and beta-fibrinogen G/A-455 gene polymorphisms are associated with ischemic stroke involving large-vessel disease.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 4, "end": 20}], "disease": [{"text": "fibrinogen", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Using bisulfite sequencing, we determined that a 5'-non-coding DNA region (located at nt-1158 to-850, upstream of the DOK1 translation start codon) was extensively hypermethylated in primary serous EOC tumors compared with normal ovarian specimens; however, this hypermethylation was not associated with DOK1 suppression.", "output": {"entities": {"gene": [{"text": "DOK1", "start": 118, "end": 122}], "disease": [{"text": "tumors", "start": 202, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.", "output": {"entities": {"gene": [{"text": "G8", "start": 65, "end": 67}], "disease": [{"text": "sitosterolemia", "start": 79, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "G8", "start": 65, "end": 67}, "tail": {"text": "sitosterolemia", "start": 79, "end": 93}}]}}, "schema": []}
{"input": "In this study, we used a recombinant human soluble death receptor 5 (sDR5) to explore its effect in a mouse model of HBV-induced acute hepatitis.", "output": {"entities": {"gene": [{"text": "death receptor 5", "start": 51, "end": 67}], "disease": [{"text": "acute hepatitis", "start": 129, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase.", "output": {"entities": {"gene": [{"text": "acid beta-glucosidase", "start": 116, "end": 137}], "disease": [{"text": "Gaucher Disease type 1", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid beta-glucosidase", "start": 116, "end": 137}, "tail": {"text": "Gaucher Disease type 1", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "Based on these results, an influence of STMN1 should be considered in studies aiming at the etiopathogenesis of a broad range of neuropsychiatric disorders with dysfunctional networking, including neurodegenerative disorders as well as schizophrenia, autism spectrum disorders, anxiety disorders, depression, and ADHD.", "output": {"entities": {"gene": [{"text": "STMN1", "start": 40, "end": 45}], "disease": [{"text": "depression", "start": 297, "end": 307}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STMN1", "start": 40, "end": 45}, "tail": {"text": "depression", "start": 297, "end": 307}}]}}, "schema": []}
{"input": "The Fisher exact test, Cochran-Mantel-Haenszel statistics, and Mann-Whitney U test were used to assess the effect of each SNP with respect to the following phenotypic manifestations: age at diagnosis, gender, affected eye, study and fellow eye visual acuity at diagnosis and at last follow-up, study eye best acuity during follow-up, presence of large drusen and retinal pigment epithelium (RPE) hyperpigmentation in study and fellow eye, choroidal neovascularization (CNV) angiographic subtype (classic vs occult), CNV size, presence of wet AMD in fellow eye, presence of dry AMD in fellow eye, and smoking history.", "output": {"entities": {"gene": [{"text": "RPE", "start": 391, "end": 394}], "disease": [{"text": "choroidal neovascularization", "start": 439, "end": 467}]}, "relations": {}}, "schema": []}
{"input": "Along with the progress of multistep carcinogenesis, the levels of HOXC5 expression of mRNA and protein significantly increased during the dysplasia (moderate to severe dysplasia) when compared with normal and hyperplasia.", "output": {"entities": {"gene": [{"text": "HOXC5", "start": 67, "end": 72}], "disease": [{"text": "hyperplasia", "start": 210, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.", "output": {"entities": {"gene": [{"text": "SPOCK1", "start": 149, "end": 155}], "disease": [{"text": "prostate cancer", "start": 103, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPOCK1", "start": 149, "end": 155}, "tail": {"text": "prostate cancer", "start": 103, "end": 118}}]}}, "schema": []}
{"input": "Our findings suggested that HECA, EBF1 and NOD2 were significantly hypomethylated, whereas MAP4K4, ZEB1 and FYN were hypermethylated, in atheromatous plaque lesions compared with plaque-free intima.", "output": {"entities": {"gene": [{"text": "MAP4K4", "start": 91, "end": 97}], "disease": [{"text": "plaque", "start": 150, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the clinical manifestations of cystic fibrosis, CFTR genetics and electrophysiology in a sibpair in which the brother is being treated as having CF, whereas his sister is asymptomatic.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 69, "end": 73}], "disease": [{"text": "asymptomatic", "start": 192, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24. 3-p24. 2.", "output": {"entities": {"gene": [{"text": "p24", "start": 88, "end": 91}], "disease": [{"text": "essential tremor", "start": 37, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed whole exome sequencing of individuals with West syndrome and identified three WDR45 mutations in three independent males (patients 1, 2 and 3).", "output": {"entities": {"gene": [{"text": "WDR45", "start": 106, "end": 111}], "disease": [{"text": "West syndrome", "start": 71, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WDR45", "start": 106, "end": 111}, "tail": {"text": "West syndrome", "start": 71, "end": 84}}]}}, "schema": []}
{"input": "Children with the Hp1/1 genotype had a significantly lower rate of nonmalarial fever (P =. 001).", "output": {"entities": {"gene": [{"text": "Hp1", "start": 18, "end": 21}], "disease": [{"text": "fever", "start": 79, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Moreover, a supermultiplicative interaction between the CTLA-4 49AA genotype and smoking plus drinking was also evident in intensifying risk of pancreatic cancer (P (interaction) = 5. 64 × 10 (-12)).", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 56, "end": 62}], "disease": [{"text": "drinking", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We investigated loss of heterozygosity (LOH) at chromosome 11q13 in the spectrum of \" marker/premalignant \" and \" malignant \" lobular lesions of the breast, including atypical lobular hyperplasia (ALH), lobular carcinoma in situ (LCIS), and infiltrating lobular carcinoma (ILC).", "output": {"entities": {"gene": [{"text": "ILC", "start": 273, "end": 276}], "disease": [{"text": "premalignant", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.", "output": {"entities": {"gene": [{"text": "beta-mannosidase", "start": 6, "end": 22}], "disease": [{"text": "beta-mannosidosis", "start": 106, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-mannosidase", "start": 6, "end": 22}, "tail": {"text": "beta-mannosidosis", "start": 106, "end": 123}}]}}, "schema": []}
{"input": "This study asks if, in Pet-1 (-/-) mice over development: 1) the respiratory instability leads to hypoxia; 2) greater bradycardia is related to the degree of hypoxia or concomitant hypopnea; and 3) hyperthermia exacerbates bradycardias.", "output": {"entities": {"gene": [{"text": "Pet-1", "start": 23, "end": 28}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In invasive ductal carcinoma, ChREBP correlated significantly with mean' downregulated' hypoxia scores (r = 0. 3, P < 0. 015, n = 67) and in two distinct breast progression arrays, ChREBP protein also increased with malignant progression (P < 0. 001).", "output": {"entities": {"gene": [{"text": "ChREBP", "start": 30, "end": 36}], "disease": [{"text": "hypoxia", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Cognitive performance in elderly women: significance of the 19bp insertion/deletion polymorphism in the 5' flank of the dopamine beta-hydroxylase gene, educational level, body fat measures, serum triglyceride, alcohol consumption and age.", "output": {"entities": {"gene": [{"text": "dopamine beta-hydroxylase", "start": 120, "end": 145}], "disease": [{"text": "alcohol consumption", "start": 210, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Single nucleotide polymorphisms (SNP) at SERPINA12 (vaspin) gene locus were discovered, and five SNP were genotyped in the subjects with varied body mass index (n = 1138).", "output": {"entities": {"gene": [{"text": "vaspin", "start": 52, "end": 58}], "disease": [{"text": "body mass index", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of alpha 1, alpha 2, alpha 3, alpha 4, alpha 5 and beta 1 integrin on 36 transitional cell cancers (TCCs) in the bladder by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "alpha 4", "start": 57, "end": 64}], "disease": [{"text": "cancers", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In this study, we addressed the role of glucose concentration in the diabetic range of > or = 11 mM, i. e., hyperglycemia per se, as a cause of the lack of response to GIP.", "output": {"entities": {"gene": [{"text": "GIP", "start": 168, "end": 171}], "disease": [{"text": "hyperglycemia", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The TCL1 expression and EBV status of 14 sporadic pediatric BL cases was determined by immunohistochemical staining for TCL1 and in situ hybridization for EBV-encoded RNA (EBER).", "output": {"entities": {"gene": [{"text": "TCL1", "start": 4, "end": 8}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "A previous study has suggested that a G to A base change at position 169 of the GHRH-receptor gene in human somatotrophinomas is a mutation and confers hypersensitivity to GHRH.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 80, "end": 84}], "disease": [{"text": "hypersensitivity", "start": 152, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "showed the classic bleeding symptoms together with absence of platelet agglutination to restocetin plus von Willebrand factor, whereas aggregation to ADP, collagen, and arachidonic acid was normal.", "output": {"entities": {"gene": [{"text": "ADP", "start": 150, "end": 153}], "disease": [{"text": "bleeding", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Region specific decrease in glial fibrillary acidic protein immunoreactivity in the brain of a rat model of depression.", "output": {"entities": {"gene": [{"text": "glial fibrillary acidic protein", "start": 28, "end": 59}], "disease": [{"text": "depression", "start": 108, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glial fibrillary acidic protein", "start": 28, "end": 59}, "tail": {"text": "depression", "start": 108, "end": 118}}]}}, "schema": []}
{"input": "A significant correlation between BAL CCL5, CCL11, and IL-5 levels and eosinophils in patients with pulmonary fibrosis due to SM gas inhalation has been demonstrated, suggesting that these C-C chemokines and IL-5 contribute to the recruitment of eosinophils cells in the lung in these victims.", "output": {"entities": {"gene": [{"text": "CCL11", "start": 44, "end": 49}], "disease": [{"text": "pulmonary fibrosis", "start": 100, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCL11", "start": 44, "end": 49}, "tail": {"text": "pulmonary fibrosis", "start": 100, "end": 118}}]}}, "schema": []}
{"input": "Because the lack of CRIP1 expression in breast cancer tissue is significantly associated with a worse prognosis for patients and low endogenous CRIP1 levels in vitro increased the malignant potential of breast cancer cells, we hypothesize that CRIP1 may act as a tumor suppressor in proliferation and invasion processes.", "output": {"entities": {"gene": [{"text": "CRIP1", "start": 20, "end": 25}], "disease": [{"text": "breast cancer", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that our sample of young adult TxN adults with alcohol dependence do not have global deficits in decision making as measured by the SGT, and that their poor decisions regarding their alcohol consumption are more specific to drinking.", "output": {"entities": {"gene": [{"text": "SGT", "start": 152, "end": 155}], "disease": [{"text": "alcohol dependence", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Although no genome-wide significant markers were identified, the combined GWAS findings have pointed to several genes of interest that support GWAS findings for BD from other groups or consortia, such as at SYNE1 on 6q25, PPP2R2C on 4p16. 1, ZNF659 on 3p24. 3, CNTNAP5 (2q14. 3), and CDH13 (16q23. 3).", "output": {"entities": {"gene": [{"text": "PPP2R2C", "start": 222, "end": 229}], "disease": [{"text": "BD", "start": 161, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPP2R2C", "start": 222, "end": 229}, "tail": {"text": "BD", "start": 161, "end": 163}}]}}, "schema": []}
{"input": "Taken together, the findings suggest that ZNRD1 could act as a modulator of methotrexate chemotherapy in gastric cancer cells through the regulation of IMPDH2 and Bcl-2.", "output": {"entities": {"gene": [{"text": "IMPDH2", "start": 152, "end": 158}], "disease": [{"text": "gastric cancer", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "As far as we know, this is the fifth report of a 46, X, idic (Y) (p11. 32) karyotype and the first presentation with mixed gonadal dysgenesis and isodicentric Y.", "output": {"entities": {"gene": [{"text": "p11", "start": 66, "end": 69}], "disease": [{"text": "mixed gonadal dysgenesis", "start": 117, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor acts in an autocrine manner in rhabdomyosarcoma cell lines and can be inhibited with all-trans-retinoic acid.", "output": {"entities": {"gene": [{"text": "Vascular endothelial growth factor", "start": 0, "end": 34}], "disease": [{"text": "rhabdomyosarcoma", "start": 66, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Vascular endothelial growth factor", "start": 0, "end": 34}, "tail": {"text": "rhabdomyosarcoma", "start": 66, "end": 82}}]}}, "schema": []}
{"input": "Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX.", "output": {"entities": {"gene": [{"text": "ATRX", "start": 61, "end": 65}], "disease": [{"text": "ATRX syndrome", "start": 61, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATRX", "start": 61, "end": 65}, "tail": {"text": "ATRX syndrome", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.", "output": {"entities": {"gene": [{"text": "PDHA1", "start": 74, "end": 79}], "disease": [{"text": "pyruvate dehydrogenase complex deficiency", "start": 100, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDHA1", "start": 74, "end": 79}, "tail": {"text": "pyruvate dehydrogenase complex deficiency", "start": 100, "end": 141}}]}}, "schema": []}
{"input": "Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.", "output": {"entities": {"gene": [{"text": "alpha 2-PI", "start": 90, "end": 100}], "disease": [{"text": "alpha 2-plasmin inhibitor deficiency", "start": 11, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha 2-PI", "start": 90, "end": 100}, "tail": {"text": "alpha 2-plasmin inhibitor deficiency", "start": 11, "end": 47}}]}}, "schema": []}
{"input": "Restoration of HIC1 function in breast cancer cells leads to a reduction in tumor growth in vivo, an effect that can be partially rescued by co-overexpression of ephrin-A1.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 15, "end": 19}], "disease": [{"text": "breast cancer", "start": 32, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIC1", "start": 15, "end": 19}, "tail": {"text": "breast cancer", "start": 32, "end": 45}}]}}, "schema": []}
{"input": "In contrast to sporadic tumors, however, where allelic imbalance at the BRCA1 and BRCA2 loci correlated well with relative copy number losses by FISH, a simple reduction to a single copy (average copy number ratio 2: 1) was found in only two BRCA1 (12%) and four BRCA2 (50%) tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 82, "end": 87}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Homozygotes of the AGTR1 A1166 allele (n = 13) had a greater decrease in systolic (-9. 1 +/-4. 7 vs 1. 1 +/-3. 3 mm Hg; p = 0. 04 by analysis of variance [ANOVA], adjusting for dose) and diastolic blood pressure (-5. 1 +/-1. 5 vs 1. 9 +/-1. 9 mm Hg; p = 0. 005 by ANOVA, adjusting for dose) compared with C1166 allele carriers (n = 18) following 2 weeks of treatment.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 155, "end": 160}], "disease": [{"text": "diastolic blood pressure", "start": 187, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "We report that LPP3 is expressed in vascular SMC after experimental arterial injury.", "output": {"entities": {"gene": [{"text": "LPP3", "start": 15, "end": 19}], "disease": [{"text": "arterial injury", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to determine the role of topoisomerase & #160; 1 & #160; (TOP1) and topoisomerase & #160; 2A & #160; (TOP2A) in liver cancer & #160; (LC), and to investigate the inhibitory effect of nitidine chloride (NC) on these two topoisomerases.", "output": {"entities": {"gene": [{"text": "TOP2A", "start": 135, "end": 140}], "disease": [{"text": "liver cancer", "start": 145, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TOP2A", "start": 135, "end": 140}, "tail": {"text": "liver cancer", "start": 145, "end": 157}}]}}, "schema": []}
{"input": "Localization of angiogenin in human control eyes and in eyes with choroidal neovascularization was determined using immunohistochemistry.", "output": {"entities": {"gene": [{"text": "angiogenin", "start": 16, "end": 26}], "disease": [{"text": "choroidal neovascularization", "start": 66, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We investigated the expression and role of the 5-HT transporter (5-HTT) and 5-HT1B, 5-HT2A, and 5-HT2B receptors in lungs and isolated PA-SMCs from patients with primary PH (n = 14), pulmonary veno-occlusive disease (n = 4), or secondary PH (SPH, n = 8) and nonpulmonary hypertensive control subjects.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 84, "end": 90}], "disease": [{"text": "secondary", "start": 228, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Recent data allow identification of four subgroups of MM in which GEP is highly correlated not only with different clinical characteristics and outcome but also with different cytogenetic abnormalities.", "output": {"entities": {"gene": [{"text": "GEP", "start": 66, "end": 69}], "disease": [{"text": "cytogenetic abnormalities", "start": 176, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease.", "output": {"entities": {"gene": [{"text": "APP", "start": 21, "end": 24}], "disease": [{"text": "Alzheimer disease", "start": 104, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APP", "start": 21, "end": 24}, "tail": {"text": "Alzheimer disease", "start": 104, "end": 121}}]}}, "schema": []}
{"input": "Overexpression of Mcl-1 and synthesis of non-functional Bax may be responsible for the resistance of CTCL cells to the anti-cancer drugs chlorambucil and sulindac.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 18, "end": 23}], "disease": [{"text": "CTCL", "start": 101, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mcl-1", "start": 18, "end": 23}, "tail": {"text": "CTCL", "start": 101, "end": 105}}]}}, "schema": []}
{"input": "Long non-coding RNA LOC100507600 functions as a competitive endogenous RNA to regulate BMI1 expression by sponging miR128-1-3p in Hirschsprung' s disease.", "output": {"entities": {"gene": [{"text": "miR128-1", "start": 115, "end": 123}], "disease": [{"text": "Hirschsprung' s disease", "start": 130, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR128-1", "start": 115, "end": 123}, "tail": {"text": "Hirschsprung' s disease", "start": 130, "end": 153}}]}}, "schema": []}
{"input": "The induction of AT2 oligomers in a transgenic mouse model with AD-like symptoms was associated with Galphaq/11 dysfunction and enhanced neurodegeneration.", "output": {"entities": {"gene": [{"text": "AT2", "start": 17, "end": 20}], "disease": [{"text": "neurodegeneration", "start": 137, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH.", "output": {"entities": {"gene": [{"text": "L2HGDH", "start": 127, "end": 133}], "disease": [{"text": "L2HGA", "start": 17, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L2HGDH", "start": 127, "end": 133}, "tail": {"text": "L2HGA", "start": 17, "end": 22}}]}}, "schema": []}
{"input": "Then 257 patients were given 6-MP at 15-80 mg/day in a stepwise manner based on RBC 6-TGN, white blood cell count, and body weight to monitor 6-MP efficacy and safety profiles.", "output": {"entities": {"gene": [{"text": "TGN", "start": 86, "end": 89}], "disease": [{"text": "body weight", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We found that OXT induces the migration of PC3 and PC3M, but not DU145 prostate cancer cells.", "output": {"entities": {"gene": [{"text": "OXT", "start": 14, "end": 17}], "disease": [{"text": "prostate cancer", "start": 71, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements.", "output": {"entities": {"gene": [{"text": "ARX", "start": 29, "end": 32}], "disease": [{"text": "absent speech", "start": 271, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Our results, based on meta-analysis, joint analysis and replication analysis, suggest that TBL1X may play a role in ASD risk.", "output": {"entities": {"gene": [{"text": "TBL1X", "start": 91, "end": 96}], "disease": [{"text": "ASD", "start": 116, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TBL1X", "start": 91, "end": 96}, "tail": {"text": "ASD", "start": 116, "end": 119}}]}}, "schema": []}
{"input": "Of particular interest, BRCA1 gene induces the expression of genes encoding DNA repair proteins RAD21 and MSH2, ERBB2/HER2 interacting protein ERBIN, meningioma-associated protein MAC30, and a candidate ovarian tumour-suppressor OVCA1.", "output": {"entities": {"gene": [{"text": "OVCA1", "start": 229, "end": 234}], "disease": [{"text": "meningioma", "start": 150, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The Wallerian degeneration slow strain (& lt; i & gt; WldS & lt;/i & gt;) of mice is resistant to some forms of axonal degeneration because of a triplicated fusion gene encoding the first 70 amino acids of Ufd2a, a ubiquitin-chain assembly factor, that is linked to the complete coding sequence of nicotinamide mononucleotide adenylyltransferase 1 (NMAT1).", "output": {"entities": {"gene": [{"text": "Ufd2a", "start": 206, "end": 211}], "disease": [{"text": "Wallerian degeneration", "start": 4, "end": 26}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Ufd2a", "start": 206, "end": 211}, "tail": {"text": "Wallerian degeneration", "start": 4, "end": 26}}]}}, "schema": []}
{"input": "The genotype and allele frequency distributions showed no significant difference in EcoR I, Xba Iand 3'-VNTR loci of ApoB gene between the osteonecrosis group and control group.", "output": {"entities": {"gene": [{"text": "ApoB gene", "start": 117, "end": 126}], "disease": [{"text": "osteonecrosis", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In zebrafish, antisense-mediated chsy1 knockdown causes defects in multiple developmental processes, some of which are likely to also be causative in the etiology of TPBS.", "output": {"entities": {"gene": [{"text": "chsy1", "start": 33, "end": 38}], "disease": [{"text": "TPBS", "start": 166, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "chsy1", "start": 33, "end": 38}, "tail": {"text": "TPBS", "start": 166, "end": 170}}]}}, "schema": []}
{"input": "For the pathogenesis of endolymphatic hydrops resulting in vertigo attacks in patients with DEH as well as MD, pAVP may represent a matter of consequence, but V2R overexpression in the endolymphatic sac could be much more essential as a basis for these diseases.", "output": {"entities": {"gene": [{"text": "V2R", "start": 159, "end": 162}], "disease": [{"text": "endolymphatic hydrops", "start": 24, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "RA-V inhibits breast cancer cell migration, adhesion and ECM degradation in vitro, implying that RA-V is a potential anti-metastatic agent in breast cancer, and likely acts via PI3K/AKT and NF-κB signaling pathways in both ER-positive and ER-negative breast cancer cells.", "output": {"entities": {"gene": [{"text": "AKT", "start": 182, "end": 185}], "disease": [{"text": "adhesion", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The BH3-only protein, PUMA, is involved in oxaliplatin-induced apoptosis in colon cancer cells.", "output": {"entities": {"gene": [{"text": "BH3-only protein", "start": 4, "end": 20}], "disease": [{"text": "colon cancer", "start": 76, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the present observations disclose the transcription of three distinct SGK1 splice variants, which are all markedly upregulated in tumor tissue but differentially upregulated following differentiation or hypoxia.", "output": {"entities": {"gene": [{"text": "SGK1", "start": 85, "end": 89}], "disease": [{"text": "hypoxia", "start": 218, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "GAD had modest genetic correlations with caffeine tolerance, 0. 24, and caffeine withdrawal, 0. 35.", "output": {"entities": {"gene": [{"text": "GAD", "start": 0, "end": 3}], "disease": [{"text": "caffeine", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Analyses of congenic mice indicated that at least two loci, Psl1. 1 and Psl1. 2, map to distal chromosome 9 and confer susceptibility to skin tumor promotion by TPA.", "output": {"entities": {"gene": [{"text": "Psl1", "start": 60, "end": 64}], "disease": [{"text": "skin tumor", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "VDR was not independently associated with body mass index, family history of colorectal cancer, tumor location (colon versus rectum), stage, tumor grade, signet ring cells, CIMP, MSI, LINE-1 hypomethylation, BRAF, p53, p21, beta-catenin, or cyclooxygenase-2.", "output": {"entities": {"gene": [{"text": "p53", "start": 214, "end": 217}], "disease": [{"text": "body mass index", "start": 42, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In late-onset bortezomib-induced peripheral neuropathy, the significant genes were SOD2 (upregulated by 1 & #183; 18 times; p = 9 & #183; 6 & #215; 10 (-3)) and MYO5A (1 & #183; 93 times; p = 3 & #183; 2 & #215; 10 (-2)), involved in development and function of the nervous system.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 83, "end": 87}], "disease": [{"text": "peripheral neuropathy", "start": 33, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 83, "end": 87}, "tail": {"text": "peripheral neuropathy", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "ERCC1 and XPF expression in human testicular germ cell tumors.", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 0, "end": 5}], "disease": [{"text": "germ cell tumors", "start": 45, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERCC1", "start": 0, "end": 5}, "tail": {"text": "germ cell tumors", "start": 45, "end": 61}}]}}, "schema": []}
{"input": "We investigated the expression and role of RSU-1 in two HCC cell lines that differ in aggressiveness; non-invasive Alexander cells and highly invasive HepG2 cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 56, "end": 59}], "disease": [{"text": "aggressiveness", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "In 39 sporadic cerebellar medulloblastomas screeened for alterations in the AXIN1 gene, another component of the Wnt pathway, we found missense AXIN1 mutations in two tumours, CCC--> TCC at codon 255 (exon 1, Pro--> Ser) and TCT--> TGT at codon 263 (exon 1, Ser--> Cys).", "output": {"entities": {"gene": [{"text": "TGT", "start": 232, "end": 235}], "disease": [{"text": "sporadic", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Partial defects of COX have been shown in muscle of patients with progressive external ophthalmoplegia, either alone (ocular myopathy) or as part of Kearns-Sayre syndrome.", "output": {"entities": {"gene": [{"text": "COX", "start": 19, "end": 22}], "disease": [{"text": "progressive external ophthalmoplegia", "start": 66, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, Txnip-KO hearts had greater recovery of cardiac function after an ischemia-reperfusion insult.", "output": {"entities": {"gene": [{"text": "Txnip", "start": 14, "end": 19}], "disease": [{"text": "ischemia", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "This study investigates a possible association between previously identified polymorphisms within the TAP-1 and LT-alpha genes and clinically manifested atopic diseases in the Czech population.", "output": {"entities": {"gene": [{"text": "TAP", "start": 102, "end": 105}], "disease": [{"text": "atopic", "start": 153, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "There were no significant differences in GSTM1, GSTM3 or GSTP1 genotype frequencies among patients, drinking and non-drinking controls from the three centres.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 57, "end": 62}], "disease": [{"text": "drinking", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of CD54, CD18, MHC class II molecules, and proliferating cell nuclear antigen in acute puromycin aminonucleoside nephrosis.", "output": {"entities": {"gene": [{"text": "CD18", "start": 30, "end": 34}], "disease": [{"text": "nephrosis", "start": 134, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD18", "start": 30, "end": 34}, "tail": {"text": "nephrosis", "start": 134, "end": 143}}]}}, "schema": []}
{"input": "The strongest reduction in risk associated with SHBG rs6259 was found for lean (body mass index < 23) postmenopausal minor allele carriers (odds ratio = 0. 6, 95% confidence interval: 0. 5, 0. 8; P = 4. 6 × 10 (-4)).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 48, "end": 52}], "disease": [{"text": "body mass index", "start": 80, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "A novel role for Wnt/Ca2 + signaling in actin cytoskeleton remodeling and cell motility in prostate cancer.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 21, "end": 24}], "disease": [{"text": "prostate cancer", "start": 91, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In order to identify risk factors associated with IFG/IGT/T2DM, two logistic regression models were tested: a full model (FM) including age, sex, body mass index (BMI), systolic and diastolic blood pressure, smoking status, and the 38 SNPs; and a reduced model (RM), in which the SNPs were dropped, which allowed us to test the null-hypothesis that the markers are not associated with the risk of IFG/IGT/T2DM.", "output": {"entities": {"gene": [{"text": "IFG", "start": 50, "end": 53}], "disease": [{"text": "body mass index", "start": 146, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8.", "output": {"entities": {"gene": [{"text": "Smad-8", "start": 96, "end": 102}], "disease": [{"text": "heritable pulmonary arterial hypertension", "start": 31, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Smad-8", "start": 96, "end": 102}, "tail": {"text": "heritable pulmonary arterial hypertension", "start": 31, "end": 72}}]}}, "schema": []}
{"input": "Thus, BRCA2 mutations probably contribute to gastrointestinal tumorigenesis other then colon cancer, and the surveillance scheme for mutation carriers should incorporate this information.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 6, "end": 11}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Recurrent alterations at relapse included mutations in the putative CHD5 neuroblastoma tumor suppressor, chromosome 9p losses, DOCK8 mutations, inactivating mutations in PTPN14 and a relapse-specific activity pattern for the PTPN14 target YAP.", "output": {"entities": {"gene": [{"text": "YAP", "start": 239, "end": 242}], "disease": [{"text": "neuroblastoma", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "YAP", "start": 239, "end": 242}, "tail": {"text": "neuroblastoma", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Microtubule-associated protein 1B but not 1A was still present in parallel fibres in less mature folia at P30 in hypothyroid rats suggesting that the expression of these two microtubule-associated proteins is regulated separately.", "output": {"entities": {"gene": [{"text": "P30", "start": 106, "end": 109}], "disease": [{"text": "hypothyroid", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "HHcy caused increased aortic blood pressure and resistance, tachycardia, and increased wall thickness and ECM accumulation in aortic wall vs. control groups.", "output": {"entities": {"gene": [{"text": "ECM", "start": 106, "end": 109}], "disease": [{"text": "tachycardia", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "However, COX-2 mRNA expression in nasal polyps from the AIAR group (0. 38 +/-0. 10) was markedly and significantly lower than in polyps from the ATAR group (2. 93 +/-0.", "output": {"entities": {"gene": [{"text": "ATAR", "start": 145, "end": 149}], "disease": [{"text": "polyps", "start": 40, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "While HSP70-1 expression constantly increased (up to 4-fold) during reperfusion, even to a higher extent with prolongation of ischemia, HSP70-2 mRNA-which was generally expressed at a far lower level than HSP70-1 mRNA-was strongly induced (3-fold) during reperfusion only after brief periods (10 min) of ischemia.", "output": {"entities": {"gene": [{"text": "HSP70-2", "start": 136, "end": 143}], "disease": [{"text": "ischemia", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.", "output": {"entities": {"gene": [{"text": "renin", "start": 29, "end": 34}], "disease": [{"text": "renal tubular dysgenesis", "start": 83, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "renin", "start": 29, "end": 34}, "tail": {"text": "renal tubular dysgenesis", "start": 83, "end": 107}}]}}, "schema": []}
{"input": "Transcription Factor KLF5 Binds a Cyclin E1 Polymorphic Intronic Enhancer to Confer Increased Bladder Cancer Risk.", "output": {"entities": {"gene": [{"text": "KLF5", "start": 21, "end": 25}], "disease": [{"text": "Bladder Cancer", "start": 94, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KLF5", "start": 21, "end": 25}, "tail": {"text": "Bladder Cancer", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "Electronegative LDL has been shown to be highly enriched in Lp-PLA2; and in advanced atheroma, Lp-PLA2 levels are highly upregulated, colocalizing with macrophages in both the necrotic core and fibrous cap.", "output": {"entities": {"gene": [{"text": "Lp-PLA2", "start": 60, "end": 67}], "disease": [{"text": "necrotic", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that treatment of endothelial nitric oxide synthase knockout mice (eNOS & #8315;/& #8315;) and catechol-O-methyltransferase knockout mice (COMT & #8315;/& #8315;) with resveratrol during pregnancy would improve uterine artery blood flow and therefore ameliorate the PE-like phenotype and FGR in these murine models.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 34, "end": 67}], "disease": [{"text": "FGR", "start": 304, "end": 307}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelial nitric oxide synthase", "start": 34, "end": 67}, "tail": {"text": "FGR", "start": 304, "end": 307}}]}}, "schema": []}
{"input": "With HER4 knockdown, NBL cells became less resistant to anoikis and serum starvation.", "output": {"entities": {"gene": [{"text": "HER4", "start": 5, "end": 9}], "disease": [{"text": "starvation", "start": 74, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation in the genes coding for these enzymes (SOD2, GPX1, and CAT, respectively) alters ROS production and therefore may provide a mechanism for the relationship between inflammation and NHL.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 63, "end": 67}], "disease": [{"text": "inflammation", "start": 181, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "IS compared with IR obese individuals have significantly lower visceral fat area (138 +/-27 vs. 316 +/-91 cm (2)), number of macrophages in omental adipose tissue (4. 9 +/-0. 8 vs. 13. 2 +/-1. 4%), mean omental adipocyte size (528 +/-76 vs. 715 +/-81 pl), circulating C-reactive protein, progranulin, chemerin, and retinol-binding protein-4 (all P values < 0. 05), and higher serum adiponectin (6. 9 +/-3. 4 vs. 3. 4 +/-1. 7 ng/ml) and omental adipocyte insulin sensitivity (all P values < 0. 01).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 268, "end": 286}], "disease": [{"text": "insulin sensitivity", "start": 454, "end": 473}]}, "relations": {}}, "schema": []}
{"input": "Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS.", "output": {"entities": {"gene": [{"text": "TBX5", "start": 74, "end": 78}], "disease": [{"text": "HOS", "start": 126, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX5", "start": 74, "end": 78}, "tail": {"text": "HOS", "start": 126, "end": 129}}]}}, "schema": []}
{"input": "To better understand how ALCAM might regulate cancer cell behavior, we utilized a panel of defined uveal melanoma cell lines with high or low ALCAM levels, and directly tested the effects of manipulating these levels on cell motility, invasiveness, and adhesion using multiple assays.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 25, "end": 30}], "disease": [{"text": "adhesion", "start": 253, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Our results show that allelic imbalance occurs frequently in hepatitis-related HCC as well as in chronic hepatitis in patients without HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 79, "end": 82}], "disease": [{"text": "chronic hepatitis", "start": 97, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Our integrated analysis of transcriptome and methylome revealed DNA hypomethylation in APA and identified several up-regulated genes with DNA hypomethylation that may be involved in aldosterone production and tumorigenesis.", "output": {"entities": {"gene": [{"text": "APA", "start": 87, "end": 90}], "disease": [{"text": "tumorigenesis", "start": 209, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Therapeutic potential of adenovirus-mediated delivery of β-defensin 2 for experimental otitis media.", "output": {"entities": {"gene": [{"text": "β-defensin 2", "start": 57, "end": 69}], "disease": [{"text": "adenovirus", "start": 25, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients.", "output": {"entities": {"gene": [{"text": "RUNX2", "start": 124, "end": 129}], "disease": [{"text": "CCD", "start": 158, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RUNX2", "start": 124, "end": 129}, "tail": {"text": "CCD", "start": 158, "end": 161}}]}}, "schema": []}
{"input": "The effects of flIL-33 on mouse lungs were assessed independently and in combination with bleomycin injury, using recombinant adenovirus-mediated gene delivery.", "output": {"entities": {"gene": [{"text": "flIL", "start": 15, "end": 19}], "disease": [{"text": "adenovirus", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We examined a morbidly obese male (BMI = 62 kg/m²) with a binge-eating disorder and eight family members for mutations in the MC4R gene and potential differences in leptin levels.", "output": {"entities": {"gene": [{"text": "MC4R gene", "start": 126, "end": 135}], "disease": [{"text": "binge-eating disorder", "start": 58, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.", "output": {"entities": {"gene": [{"text": "CDC45", "start": 13, "end": 18}], "disease": [{"text": "Meier-Gorlin Syndrome", "start": 89, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDC45", "start": 13, "end": 18}, "tail": {"text": "Meier-Gorlin Syndrome", "start": 89, "end": 110}}]}}, "schema": []}
{"input": "We show here that transient forebrain ischemia selectively elevates levels of neuronal apoptosis inhibitory protein (NAIP) in rat neurons that are resistant to the injurious effects of this treatment.", "output": {"entities": {"gene": [{"text": "NAIP", "start": 117, "end": 121}], "disease": [{"text": "ischemia", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that the tumor promoting/progressing effects of EP1 require the PGE2 synthesized by COX-2.", "output": {"entities": {"gene": [{"text": "EP1", "start": 67, "end": 70}], "disease": [{"text": "tumor", "start": 28, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Although SET7/9 transcriptionally activate the genes via H3K4 mono-methylation, its target genes are poorly understood.", "output": {"entities": {"gene": [{"text": "SET7/9", "start": 9, "end": 15}], "disease": [{"text": "mono", "start": 62, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "These mice have normal cardiac structure and function, indicating that haplo-insufficiency of JAM-3 is unlikely to cause the congenital heart defects that occur in 11q-patients.", "output": {"entities": {"gene": [{"text": "JAM", "start": 94, "end": 97}], "disease": [{"text": "congenital heart defects", "start": 125, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "We found that ASC was methylated in three of five human colon cancer cell lines lacking ASC protein expression.", "output": {"entities": {"gene": [{"text": "ASC", "start": 14, "end": 17}], "disease": [{"text": "colon cancer", "start": 56, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Sixty-one diabetics with unprovoked ketosis or ketoacidosis at presentation were tested for glutamic acid decarboxylase antibody (GAD-Ab), tyrosine phosphatase antibody (IA2-Ab), thyroglobulin antibody (TGA), thyroid peroxidase antibody (TPO-Ab) and HLA-DQ genotype.", "output": {"entities": {"gene": [{"text": "HLA-DQ", "start": 250, "end": 256}], "disease": [{"text": "ketoacidosis", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The amplification frequency of the RPS6KB1 and TBX2 oncogenes from this amplicon was compared in 27 BRCA1 and BRCA2 mutant breast tumors, 15 breast tumors from high-risk patients with no BRCA1 or BRCA2 mutations, and 62 matched sporadic breast tumor controls.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 110, "end": 115}], "disease": [{"text": "sporadic", "start": 228, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Expression changes in transferrin, vimentin, vinculin, peroxiredoxins, Rho-GTP dissociation inhibitor, grifin, guanine deaminase and 3-phosphoglycerate dehydrogenase were associated here for the first time with obesity.", "output": {"entities": {"gene": [{"text": "3-phosphoglycerate dehydrogenase", "start": 133, "end": 165}], "disease": [{"text": "obesity", "start": 211, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "To analyse the expression of several mucins (MUC1, MUC2, MUC3, MUC5AC and MUC6), epidermal growth factor receptor (EGFR), v-erb-b2 erythroblastic leukaemia viral oncogene homologue 2 (HER2), thyroid transcription factor-1 (TTF-1), caudal type homeobox 2 (CDX2) and cytokeratin 20 (CK20), and the presence of mutations of EGFR, KRAS and HER2 in congenital pulmonary airway malformations (CPAM).", "output": {"entities": {"gene": [{"text": "MUC1", "start": 45, "end": 49}], "disease": [{"text": "malformations", "start": 372, "end": 385}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrate for the first time that human and murine Th1 lymphocytes preferentially adhere to murine inflamed brain venules in an experimental model that mimics early inflammation during EAE.", "output": {"entities": {"gene": [{"text": "Th1", "start": 71, "end": 74}], "disease": [{"text": "inflammation", "start": 185, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the MSH2 and MLH1 genes do not play a role in the pathogenesis of sporadic endometrial cancer.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 21, "end": 25}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In group II, two cases of del (22) (qter) were identified but neither NSD1, 11p15, nor GPC3 abnormalities were detected.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 70, "end": 74}], "disease": [{"text": "abnormalities", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Persons carrying the GR-9beta haplotype without 22/23EK (n = 53) revealed no significant differences in their body mass index, waist to hip ratio, fat spectrum, and insulin sensitivity or in their cortisol response to dexamethasone and levels of C-reactive protein, compared with noncarriers (n = 113).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 246, "end": 264}], "disease": [{"text": "insulin sensitivity", "start": 165, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "IL-6 abundance in amniotic fluid and uterine tissues increases in late gestation or with infection-associated preterm labor.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "preterm labor", "start": 110, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 0, "end": 4}, "tail": {"text": "preterm labor", "start": 110, "end": 123}}]}}, "schema": []}
{"input": "However, despite the presence of polymorphisms that regulate plasma levels of factor VIII, PAI-1, and fibrinogen the association between common polymorphisms of these coagulation protein and ischemic cardiac disease remains ambiguous.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 78, "end": 89}], "disease": [{"text": "fibrinogen", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we hypothesized that hormonal regulation of Cyr61 may be important in estrogen-dependent pathogenic processes such as breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 55, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "SREBP-1 Mediates Angiotensin II-Induced TGF-& #946; 1 Upregulation and Glomerular Fibrosis.", "output": {"entities": {"gene": [{"text": "Angiotensin II", "start": 17, "end": 31}], "disease": [{"text": "Fibrosis", "start": 82, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Angiotensin II", "start": 17, "end": 31}, "tail": {"text": "Fibrosis", "start": 82, "end": 90}}]}}, "schema": []}
{"input": "In summary, these findings aid in understanding the tumor-suppressive role of miR-124-3p in astrocytoma pathogenesis through the inhibition of PIM1 translation.", "output": {"entities": {"gene": [{"text": "PIM1", "start": 143, "end": 147}], "disease": [{"text": "astrocytoma", "start": 92, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "However, the percent of Th2 cells, IL-4 levels and expression of GATA-3 mRNA was markedly higher in patients with mild and moderate to severe asthma than in the control group.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 35, "end": 39}], "disease": [{"text": "mild", "start": 114, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We first determined in vivo that EPO therapy markedly suppressed MOG specific T cell proliferation and sharply reduced the number of reactive dendritic cells (CD11c positive) in EAE lymph nodes during both inductive and later symptomatic phases of MOG (35-55) induced EAE.", "output": {"entities": {"gene": [{"text": "EPO", "start": 33, "end": 36}], "disease": [{"text": "EAE", "start": 178, "end": 181}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EPO", "start": 33, "end": 36}, "tail": {"text": "EAE", "start": 178, "end": 181}}]}}, "schema": []}
{"input": "Antral biopsies from 27 patients with H. pylori-associated gastritis and 25 from H. pylori-negative individuals were first analyzed for ENA-78 and interleukin-8 (IL-8) mRNA by semiquantitative reverse transcription (RT)-PCR.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 136, "end": 142}], "disease": [{"text": "gastritis", "start": 59, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In search of epigenetic events related to progression, we used MS-MLPA (ME-0002-B1, MRC-Holland, Amsterdam, The Netherlands) to compare the methylation status of 25 breast cancer-related genes between laser-microdissected ductal carcinoma in situ (DCIS) and adjacent invasive ductal cancer (IDC) lesions in 33 breast cancer patients.", "output": {"entities": {"gene": [{"text": "MRC", "start": 84, "end": 87}], "disease": [{"text": "ductal carcinoma in situ", "start": 222, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1.", "output": {"entities": {"gene": [{"text": "NF1", "start": 98, "end": 101}], "disease": [{"text": "NF1", "start": 124, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 98, "end": 101}, "tail": {"text": "NF1", "start": 124, "end": 127}}]}}, "schema": []}
{"input": "The observation that the different translocation partners of the EWS gene are specifically associated with several distinct types of primitive sarcomas suggests a model in which the translocation partner supplying the DNA-binding domain confers the target specificity of the transcriptional activation mediated by these chimeric proteins, whereas the partner supplying the N-terminal domain and promoter region determines their transactivation potential and expression level.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 65, "end": 73}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Herein, for the first time, we demonstrate that a serine-threonine kinase, Protein Kinase D1 (PKD1), modulates the functions of β-catenin to suppress colon cancer growth.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 94, "end": 98}], "disease": [{"text": "colon cancer", "start": 150, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Our present study highlights the importance of SP1/SP3 activity for CAIX expression and provides additional evidence for distinct mechanisms responsible for true and mild hypoxia-induced CAIX expression.", "output": {"entities": {"gene": [{"text": "SP3", "start": 51, "end": 54}], "disease": [{"text": "mild", "start": 166, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t (9; 15) (q22; q21).", "output": {"entities": {"gene": [{"text": "TCF12", "start": 72, "end": 77}], "disease": [{"text": "extraskeletal myxoid chondrosarcoma", "start": 88, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TCF12", "start": 72, "end": 77}, "tail": {"text": "extraskeletal myxoid chondrosarcoma", "start": 88, "end": 123}}]}}, "schema": []}
{"input": "We confirmed in a large cohort of ante/neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.", "output": {"entities": {"gene": [{"text": "KCNJ1", "start": 183, "end": 188}], "disease": [{"text": "hyperkalaemia", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.", "output": {"entities": {"gene": [{"text": "TPRKB", "start": 57, "end": 62}], "disease": [{"text": "GAMOS", "start": 170, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPRKB", "start": 57, "end": 62}, "tail": {"text": "GAMOS", "start": 170, "end": 175}}]}}, "schema": []}
{"input": "Further validation of candidate genes on a separate cohort of low and high grade prostate cancers by quantitative MethyLight analysis has allowed us to confirm DNA hypermethylation of HOXD3 and BMP7, two genes that may play a role in the development of high grade tumours.", "output": {"entities": {"gene": [{"text": "BMP7", "start": 194, "end": 198}], "disease": [{"text": "prostate cancers", "start": 81, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BMP7", "start": 194, "end": 198}, "tail": {"text": "prostate cancers", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "Two polymorphisms, coagulation factor XIII (FXIII) Val34Leu and plasminogen activator inhibitor 1 (PAI-1) 4G/5G, interfere with fibrin cross-linking and regulation of fibrinolysis and may therefore contribute to early pregnancy loss.", "output": {"entities": {"gene": [{"text": "plasminogen activator inhibitor 1", "start": 64, "end": 97}], "disease": [{"text": "early pregnancy loss", "start": 212, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "AIM: It is important to know the tumor resistance against cisplatin before the treatment of non-small cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "non-small cell lung cancer", "start": 92, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Ten of the isolated patients had multiple paragangliomas, and in eight of these SDHD germline mutations were found, indicating that multicentricity is a strong predictive factor for the hereditary nature of the disorder in isolated patients.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 80, "end": 84}], "disease": [{"text": "paragangliomas", "start": 42, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHD", "start": 80, "end": 84}, "tail": {"text": "paragangliomas", "start": 42, "end": 56}}]}}, "schema": []}
{"input": "The NF90 Tg mice exhibited a reduction in body weight compared with wild-type mice, and a robust expression of NF90 was detected in skeletal muscle, heart and eye of the Tg mice.", "output": {"entities": {"gene": [{"text": "NF90", "start": 4, "end": 8}], "disease": [{"text": "body weight", "start": 42, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Over 90% of Ewing sarcoma/primitive neuroectodermal tumors (PNETs) feature an 11; 22 translocation leading to an EWSR1-FLI1 fusion.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 113, "end": 118}], "disease": [{"text": "translocation", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to examine the association between polymorphisms in 2 paraoxonase genes (PON1 and PON2) and preterm delivery.", "output": {"entities": {"gene": [{"text": "PON1", "start": 103, "end": 107}], "disease": [{"text": "preterm delivery", "start": 122, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "No mutations were found in either the lesional or constitutional DNA, which suggests that sporadic meningioangiomatosis is not a forme fruste of NF2 and that somatic alterations of the NF2 gene do not play a major role in sporadic meningioangiomatosis.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 185, "end": 193}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Numbers of alphaIL-4R mRNA-positive or immunoreactive cells did not correlate with CD3-positive cell numbers, numbers of IL-4 mRNA-positive cells, or indices of pulmonary function.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 16, "end": 20}], "disease": [{"text": "pulmonary function", "start": 161, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In two cases, a t (11; 22) (q24; q12) (EWSR1-FLI-1) chromosomal translocation was demonstrated by reverse transcriptase-PCR (one case) and fluorescence in situ hybridisation (FISH) (one case), and in another case a rearrangement of the EWSR1 gene on chromosome 22 was demonstrated by FISH.", "output": {"entities": {"gene": [{"text": "EWSR1 gene", "start": 236, "end": 246}], "disease": [{"text": "chromosomal translocation", "start": 52, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Among indolent B cell lymphoproliferative disorders, NOTCH2 mutations are restricted to SMZL, thus representing a potential diagnostic marker for this lymphoma type.", "output": {"entities": {"gene": [{"text": "NOTCH2", "start": 53, "end": 59}], "disease": [{"text": "lymphoproliferative disorders", "start": 22, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Though no significant association was found between PTTG1 haplotypes and the risk of pituitary adenoma, this is the first report on the association of individual PTTG1 SNPs or PTTG1 haplotypes with the risk of pituitary adenoma based on a solid study; it will provide an important reference for future studies on the association between genetic alterations in PTTG1 and the risk of pituitary adenoma or other tumors.", "output": {"entities": {"gene": [{"text": "PTTG1", "start": 52, "end": 57}], "disease": [{"text": "pituitary adenoma", "start": 85, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This study shows an association between acetylation polymorphism and susceptibility to extrinsic asthma, but not to intrinsic asthma, suggesting a minor role of the NAT2 polymorphism in the development of atopic asthma.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 165, "end": 169}], "disease": [{"text": "intrinsic asthma", "start": 116, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the CD4 + T cells found in the lungs of patients with sarcoidosis were conventional CD4 + CD3 + T cells, not natural killer T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 17, "end": 20}], "disease": [{"text": "sarcoidosis", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The CIC-DUX4 translocation was found in six Ewing-like tumors (3%) with CD99 positivity.", "output": {"entities": {"gene": [{"text": "DUX4", "start": 8, "end": 12}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The findings in people with cold sores support our hypothesis that APOE-epsilon 4 and HSV1 together are damaging in the nervous system.", "output": {"entities": {"gene": [{"text": "APOE", "start": 67, "end": 71}], "disease": [{"text": "nervous system", "start": 120, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that positive MTA1 expression was significantly higher whereas positive expressions of KAI-1 and KiSS-1 genes were significantly lower in gallbladder adenocarcinoma than in peritumoral tissues, polyps, and chronic cholecystitis.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 30, "end": 34}], "disease": [{"text": "chronic cholecystitis", "start": 222, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Transcription and translation analyses of IGF-1/2, p-AKT, p-S6K, and TSC1/2 in fibroids and matched myometrium.", "output": {"entities": {"gene": [{"text": "AKT", "start": 53, "end": 56}], "disease": [{"text": "fibroids", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In epilepsy at least, the deletion does not appear to unmask recessive-acting mutations in NDE1, with haploinsufficiency and genetic modifiers being prime candidate disease mechanisms.", "output": {"entities": {"gene": [{"text": "NDE1", "start": 91, "end": 95}], "disease": [{"text": "epilepsy", "start": 3, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "In a non-psychiatric cohort of 419 Caucasians, the severity of depression was assessed prospectively during pregnancy (3rd trimester) and the postpartum period (2-3 days and 6-8 months) using the Edinburgh Postnatal Depression Scale.", "output": {"entities": {"gene": [{"text": "period (2", "start": 153, "end": 162}], "disease": [{"text": "Postnatal Depression", "start": 206, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "period (2", "start": 153, "end": 162}, "tail": {"text": "Postnatal Depression", "start": 206, "end": 226}}]}}, "schema": []}
{"input": "The data demonstrate that AHR deficiency significantly reduces weight gain and adiposity, and increases multilocular lipid droplet formation within perigonadal white adipose tissue (gWAT).", "output": {"entities": {"gene": [{"text": "AHR", "start": 26, "end": 29}], "disease": [{"text": "weight gain", "start": 63, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 26, "end": 29}, "tail": {"text": "weight gain", "start": 63, "end": 74}}]}}, "schema": []}
{"input": "After ANP gene delivery, there were significant increases in urinary volume and urinary potassium output (n = 6, P <. 05) but not in body weight, heart rate, water intake, urinary sodium output, urinary creatine, and urinary protein.", "output": {"entities": {"gene": [{"text": "ANP", "start": 6, "end": 9}], "disease": [{"text": "heart rate", "start": 146, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Our in vivo and in vitro results question the relationship of causality between LMNA mutations and the development of heart failure in some DCM patients and therefore, the reliability of genetic counselling.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 80, "end": 84}], "disease": [{"text": "DCM", "start": 140, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 80, "end": 84}, "tail": {"text": "DCM", "start": 140, "end": 143}}]}}, "schema": []}
{"input": "Under pathological hypoxia, the catalytic activities of JMJD2A, JMJD2C and Jumonji/ARID domain-containing protein 1B (JARID1B) were blocked due to the lack of their substrate, i. e.", "output": {"entities": {"gene": [{"text": "JMJD2C", "start": 64, "end": 70}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Similarly, only chimera2 rescued the function of AKT1 in mediating pressure-stimulated adhesion after endogenous AKT1 had been reduced.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 49, "end": 53}], "disease": [{"text": "adhesion", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that one candidate gene, FLJ25076, encodes a ubiquitin-conjugated enzyme E2 type, which is locally expressed in thoracic and scalp tissues.", "output": {"entities": {"gene": [{"text": "FLJ25076", "start": 47, "end": 55}], "disease": [{"text": "thoracic", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Breast cancer metastasis suppressor 1 (BRMS1) suppresses metastasis of multiple tumor types without blocking tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRMS1", "start": 39, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, IF1 was an independent prognostic marker for predicting 5-year overall survival and disease-free survival of gastric cancer patients.", "output": {"entities": {"gene": [{"text": "IF1", "start": 13, "end": 16}], "disease": [{"text": "gastric cancer", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "To determine whether patients with rheumatoid factor (RF)-negative, antinuclear antibody (ANA)-positive oligo/polyarthritis are clinically and immunogenetically distinct from RF-positive rheumatoid arthritis (RA) and whether this subset of patients is the adult counterpart of early-onset pauciarticular juvenile chronic arthritis (EOPA JCA), we retrospectively studied 20 adult patients with RF-negative, ANA-positive arthritis.", "output": {"entities": {"gene": [{"text": "ANA", "start": 90, "end": 93}], "disease": [{"text": "polyarthritis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Increases in innervation of sensory C-fibers and tachykinin receptors, which mainly involve overproduction of neurotrophins such as nerve growth factor (NGF), may enhance neurogenic inflammation.", "output": {"entities": {"gene": [{"text": "nerve growth factor", "start": 132, "end": 151}], "disease": [{"text": "neurogenic inflammation", "start": 171, "end": 194}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nerve growth factor", "start": 132, "end": 151}, "tail": {"text": "neurogenic inflammation", "start": 171, "end": 194}}]}}, "schema": []}
{"input": "We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis.", "output": {"entities": {"gene": [{"text": "RB1", "start": 61, "end": 64}], "disease": [{"text": "retinoblastoma", "start": 104, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 61, "end": 64}, "tail": {"text": "retinoblastoma", "start": 104, "end": 118}}]}}, "schema": []}
{"input": "Furthermore, BRCA1, PP1beta and PP1gamma were significantly higher in normal tissue specimens (BRCA1 p = 0. 01, PP1beta: p = 0. 03, PP1gamma, p = 1. 9 x 10 (-6)) compared to sporadic breast tumor samples.", "output": {"entities": {"gene": [{"text": "PP1gamma", "start": 32, "end": 40}], "disease": [{"text": "sporadic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PRRT2 are a major cause of PKD in familial and sporadic cases in the European population.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Bcl-2 expression was positively correlated with expression of the transcription factors microphthalmia transcription factor (MITF) and nuclear AP-2 whereas Bcl-XL (and Mcl-1) expression were positively correlated with p-Stat3.", "output": {"entities": {"gene": [{"text": "Mcl-1", "start": 168, "end": 173}], "disease": [{"text": "microphthalmia", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This study tested for an association between SLC18A2 and ADRB1 and treatment outcome in 873 major depressive disorder patients treated with the antidepressant citalopram in the Sequenced Treatment Alternatives to Relieve Depression study.", "output": {"entities": {"gene": [{"text": "ADRB1", "start": 57, "end": 62}], "disease": [{"text": "Depression", "start": 221, "end": 231}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADRB1", "start": 57, "end": 62}, "tail": {"text": "Depression", "start": 221, "end": 231}}]}}, "schema": []}
{"input": "We recently reported 2 linked polymorphisms within regulatory regions of the gene for the atrial gap junction protein connexin40 (Cx40) at nucleotides-44 (G--> A) and + 71 (A--> G), which were associated with familial atrial standstill.", "output": {"entities": {"gene": [{"text": "Cx40", "start": 130, "end": 134}], "disease": [{"text": "atrial standstill", "start": 218, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Early diagnosis may be facilitated by clinician awareness of the insidious onset of renal failure, and an elevated erythrocyte sedimentation rate and C-reactive protein.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 150, "end": 168}], "disease": [{"text": "elevated erythrocyte sedimentation rate", "start": 106, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unrelated Spanish MLD patients.", "output": {"entities": {"gene": [{"text": "ARSA", "start": 104, "end": 108}], "disease": [{"text": "MLD", "start": 175, "end": 178}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARSA", "start": 104, "end": 108}, "tail": {"text": "MLD", "start": 175, "end": 178}}]}}, "schema": []}
{"input": "XRCC1 and XPD genetic polymorphisms, smoking and breast cancer risk in a Finnish case-control study.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 0, "end": 5}], "disease": [{"text": "smoking", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Comparing the observed and expected values of UII genotype frequencies in mild, severe PE, and in controls, no significant difference was noted in the homo-mutant, the hetero-mutant or the wild genotypes.", "output": {"entities": {"gene": [{"text": "UII", "start": 46, "end": 49}], "disease": [{"text": "mild", "start": 74, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We found that SK2 was overexpressed in MM cell lines and in primary human bone marrow (BM) CD1381 myeloma cells.", "output": {"entities": {"gene": [{"text": "SK2", "start": 14, "end": 17}], "disease": [{"text": "myeloma", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products.", "output": {"entities": {"gene": [{"text": "coagulation factor VII", "start": 22, "end": 44}], "disease": [{"text": "factor VII deficiency", "start": 145, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor VII", "start": 22, "end": 44}, "tail": {"text": "factor VII deficiency", "start": 145, "end": 166}}]}}, "schema": []}
{"input": "METHODS: In this case-control study, 108 AMD cases with RAP, 258 AMD patients with choroidal neovascularization (CNV) without RAP and 443 healthy controls were evaluated.", "output": {"entities": {"gene": [{"text": "RAP", "start": 56, "end": 59}], "disease": [{"text": "choroidal neovascularization", "start": 83, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The aPC resistance is not due to factor V Leiden, but is rather associated with elevated levels of factor VIII and fibrinogen, and in itself does not predict thrombosis.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 99, "end": 110}], "disease": [{"text": "fibrinogen", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "MRG15 binds directly to PALB2 and stimulates homology-directed repair of chromosomal breaks.", "output": {"entities": {"gene": [{"text": "MRG15", "start": 0, "end": 5}], "disease": [{"text": "chromosomal breaks", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Global Ptchd1 deletion recapitulates learning impairment, hyper-aggression, and motor defects, all of which are insensitive to SK pharmacological targeting and not found in the TRN-restricted deletion mouse.", "output": {"entities": {"gene": [{"text": "TRN", "start": 177, "end": 180}], "disease": [{"text": "aggression", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of HIF-1 or hypoxia-induced LOX family members reduced collagen cross-linking, CD11b (+) BMDC recruitment, and metastasis formation in the lungs of mice after orthotopic transplantation of human breast cancer cells.", "output": {"entities": {"gene": [{"text": "LOX", "start": 38, "end": 41}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Luciferase reporter activity driven by the Abcc8 promoter was increased by hypoxia and by coexpression of HIF1α.", "output": {"entities": {"gene": [{"text": "Abcc8", "start": 43, "end": 48}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "NFATC1 promotes cell growth and tumorigenesis in ovarian cancer up-regulating c-Myc through ERK1/2/p38 MAPK signal pathway.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 92, "end": 96}], "disease": [{"text": "tumorigenesis", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Significantly higher expression of MTA1 was observed in tumours compared to normal tissues; MTA1 overexpression resulted in reduced adhesion in CRC cell lines.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 35, "end": 39}], "disease": [{"text": "adhesion", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Enhanced expression of the voltage-dependent anion channel 1 (VDAC1) in Alzheimer' s disease transgenic mice: an insight into the pathogenic effects of amyloid-β.", "output": {"entities": {"gene": [{"text": "VDAC1", "start": 62, "end": 67}], "disease": [{"text": "amyloid", "start": 152, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In patch-clamp analysis, EFHC1 specifically increased R-type Ca (2 +) currents that were reversed by the mutations associated with JME.", "output": {"entities": {"gene": [{"text": "EFHC1", "start": 25, "end": 30}], "disease": [{"text": "JME", "start": 131, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFHC1", "start": 25, "end": 30}, "tail": {"text": "JME", "start": 131, "end": 134}}]}}, "schema": []}
{"input": "The breakpoint is distinct from the breakpoint in the t (8; 16) (p11; p13) translocation in acute monocytic leukemia with erythrophagocytosis that fuses MOZ with CBP.", "output": {"entities": {"gene": [{"text": "p11", "start": 65, "end": 68}], "disease": [{"text": "acute monocytic leukemia", "start": 92, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Correlation of plasma levels of leptin and leptin soluble receptor, and polymorphisms of leptin gene-18G > A, leptin receptor genes K109R and Q223R, and the overweight status were analyzed in relation to gender, intensity of chemotherapy (high intensity vs. standard intensity regimens) and to the use of CRT.", "output": {"entities": {"gene": [{"text": "CRT", "start": 305, "end": 308}], "disease": [{"text": "overweight", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Chop-null mice are also resistant to fibrosis, which is a key risk factor for HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 78, "end": 81}], "disease": [{"text": "fibrosis", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure.", "output": {"entities": {"gene": [{"text": "DNAJC21", "start": 0, "end": 7}], "disease": [{"text": "bone marrow failure", "start": 74, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNAJC21", "start": 0, "end": 7}, "tail": {"text": "bone marrow failure", "start": 74, "end": 93}}]}}, "schema": []}
{"input": "NF-kappa B translocation, which is an essential transducing signal of the TNF-induced lysis pathway, does not appear to be involved in this resistance as assessed by gel shift experiments.", "output": {"entities": {"gene": [{"text": "TNF", "start": 74, "end": 77}], "disease": [{"text": "translocation", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "However, the polymorphism examined was not significantly associated with risk of arterial thrombosis despite the fact that CRP concentrations are a potent independent predictor of future vascular events in this cohort.", "output": {"entities": {"gene": [{"text": "CRP", "start": 123, "end": 126}], "disease": [{"text": "arterial thrombosis", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.", "output": {"entities": {"gene": [{"text": "dermatan-4-sulfotransferase 1", "start": 8, "end": 37}], "disease": [{"text": "adducted thumb-clubfoot syndrome", "start": 58, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dermatan-4-sulfotransferase 1", "start": 8, "end": 37}, "tail": {"text": "adducted thumb-clubfoot syndrome", "start": 58, "end": 90}}]}}, "schema": []}
{"input": "At present no strong evidence exists that large repeat alleles at either SEF2-1B or ERDA1 are involved in the etiology of schizophrenia or bipolar disorder.", "output": {"entities": {"gene": [{"text": "ERDA1", "start": 84, "end": 89}], "disease": [{"text": "bipolar disorder", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERDA1", "start": 84, "end": 89}, "tail": {"text": "bipolar disorder", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "Both down-regulation of glutamate decarboxylase 67 (GAD67) and maternal exposure to severe stress during pregnancy can increase the risk of schizophrenia and related psychotic disorders in the offspring.", "output": {"entities": {"gene": [{"text": "glutamate decarboxylase", "start": 24, "end": 47}], "disease": [{"text": "psychotic disorders", "start": 166, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutamate decarboxylase", "start": 24, "end": 47}, "tail": {"text": "psychotic disorders", "start": 166, "end": 185}}]}}, "schema": []}
{"input": "The study genotyped 106 single nucleotide polymorphisms (SNPs) in four regions (BAK1, DMRT1, KITLG, TERT-CLPTM1L) previously identified from genome-wide association studies of TGCT, including risk single nucleotide polymorphisms (SNPs) rs210138 (BAK1), rs755383 (DMRT1), rs4635969 (TERT-CLPTM1L) in 97 cases with familial TGCT and 22 affected individuals with sporadic bilateral TGCT as well as 871 controls.", "output": {"entities": {"gene": [{"text": "BAK1", "start": 80, "end": 84}], "disease": [{"text": "sporadic", "start": 360, "end": 368}]}, "relations": {}}, "schema": []}
{"input": "Both salusin-β-induced VCAM-1 induction and monocyte/HUVEC adhesion were suppressed by pharmacological inhibitors of NF-κB, e. g., Bay 11-7682 and curcumin.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 117, "end": 122}], "disease": [{"text": "adhesion", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency.", "output": {"entities": {"gene": [{"text": "B12", "start": 11, "end": 14}], "disease": [{"text": "cerebral folate deficiency", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, genes that showed the most significant link include those that mediate various signaling pathways implicated in colorectal tumorigenesis, such as BMP3 and BMP6 (BMP signaling), EPHA3, KIT, and FLT1 (receptor tyrosine kinases) and SMO (Hedgehog signaling).", "output": {"entities": {"gene": [{"text": "BMP3", "start": 161, "end": 165}], "disease": [{"text": "tumorigenesis", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The syphilis, HBV and HCV infection rates, as well as CD4 (+) T cell counts and viral loads were compared among three APOBEC3B genotype groups (I/I, D/I, and D/D).", "output": {"entities": {"gene": [{"text": "CD4", "start": 54, "end": 57}], "disease": [{"text": "syphilis", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that in human myxoid liposarcoma cells, wild-type TLS binds to RNA polymerase II (Pol II) via its N-terminal domain and to the transcription and translation factor Y-box binding protein-1 (YB-1) through its C-terminal domain.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 204, "end": 208}], "disease": [{"text": "myxoid liposarcoma", "start": 29, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "] pirenzepine binding was decreased in the dentate gyrus (p <. 05), CA3 (p <. 01), CA2 (p <. 05), and CA1 (p <. 01) regions of the hippocampus from subjects with schizophrenia.", "output": {"entities": {"gene": [{"text": "CA3", "start": 68, "end": 71}], "disease": [{"text": "schizophrenia", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In the light of data that major depression is associated with an activation of brain CRH and LC-NE systems, the time-dependent effect of long-term imipramine administration on decreasing the gene expression of CRH in the hypothalamus and TH in the LC may be relevant to the therapeutic efficacy of this agent in depression.", "output": {"entities": {"gene": [{"text": "TH", "start": 238, "end": 240}], "disease": [{"text": "major depression", "start": 26, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TH", "start": 238, "end": 240}, "tail": {"text": "major depression", "start": 26, "end": 42}}]}}, "schema": []}
{"input": "As a result, a portion of the RAR alpha gene becomes fused with a chromosome 15 locus termed PML (promyelocytic myeloid leukemia) from which chimeric PML/RAR alpha fusion mRNAs are expressed.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 34, "end": 44}], "disease": [{"text": "myeloid leukemia", "start": 112, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 13, "end": 19}], "disease": [{"text": "Dravet syndrome", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GABRA1", "start": 13, "end": 19}, "tail": {"text": "Dravet syndrome", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.", "output": {"entities": {"gene": [{"text": "IDH3A", "start": 44, "end": 49}], "disease": [{"text": "Retinitis Pigmentosa", "start": 73, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH3A", "start": 44, "end": 49}, "tail": {"text": "Retinitis Pigmentosa", "start": 73, "end": 93}}]}}, "schema": []}
{"input": "A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 57, "end": 61}], "disease": [{"text": "Peters' anomaly", "start": 85, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 57, "end": 61}, "tail": {"text": "Peters' anomaly", "start": 85, "end": 100}}]}}, "schema": []}
{"input": "These results indicate qualitative and quantitative differences in TGF-beta isoform and receptor expression by fibroblasts in gingival overgrowth that may contribute to disease pathogenesis.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 67, "end": 75}], "disease": [{"text": "gingival overgrowth", "start": 126, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "A total of 188 infertile men were enrolled in the study: 100 patients with AZOO, 38 with CRYPTO and 50 with OAT.", "output": {"entities": {"gene": [{"text": "OAT", "start": 108, "end": 111}], "disease": [{"text": "infertile", "start": 15, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The ratio of CTLA-4 (+)/CD28 (+) in CD4 (+) CD25 (bright) T cells was significantly higher than that of the CD4 (+) CD25 (dim) T cells both in normal pregnancy and in miscarriage.", "output": {"entities": {"gene": [{"text": "CD28", "start": 24, "end": 28}], "disease": [{"text": "miscarriage", "start": 167, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Mice were infected with a replication-deficient adenovirus encoding CCL18 and then instilled with bleomycin; control mice were challenged with either CCL18 overexpression or bleomycin.", "output": {"entities": {"gene": [{"text": "CCL18", "start": 68, "end": 73}], "disease": [{"text": "adenovirus", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "By measuring the rates of Cu and Zn release using an absorbance-based assay, dimer dissociation through chemical cross-linking, and β-barrel conformation changes by tryptophan fluorescence, we established that wild-type SOD1 unfolds by a branched pathway involving a Zn-deficient monomer as the dominant intermediate of the major pathway, and with various metal-loaded and Cu-deficient dimers populated along the minor pathway.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 220, "end": 224}], "disease": [{"text": "dissociation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Our observation of a high frequency of germline TP53 mutations in children with sporadic ADCC suggests that these children may represent probands with which to ascertain Li-Fraumeni syndrome families.", "output": {"entities": {"gene": [{"text": "Li-Fraumeni syndrome", "start": 170, "end": 190}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Aldosterone synthase (CYP11B2) expression and myocardial fibrosis in the failing human heart.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 22, "end": 29}], "disease": [{"text": "myocardial fibrosis", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The 100 APR patients were grouped into 4 categories: 48 patients with infections, 25 postoperative patients, 17 patients with tumors, and 10 patients with other diseases, all of whom showed substantially higher Lp (a) values than did the controls.", "output": {"entities": {"gene": [{"text": "APR", "start": 8, "end": 11}], "disease": [{"text": "infections", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Because (Lys15, Arg16, Leu27) VIP1-7GRF8-27 (VPAC1 selective) but not Ro25-1553 (VPAC2 selective) inhibited specific 125I-VIP binding to mammary tumor membranes with high affinity, VPAC1 receptors predominate.", "output": {"entities": {"gene": [{"text": "VIP1", "start": 30, "end": 34}], "disease": [{"text": "mammary tumor", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Additionally, statistically significant relationships were revealed between BCL2L12 expression level and CD117 expression, the presence of splenomegaly and chemotherapy response.", "output": {"entities": {"gene": [{"text": "BCL2L12", "start": 76, "end": 83}], "disease": [{"text": "splenomegaly", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Although it is possible that these cases contained cryptic rearrangements of EWSR1 or FUS that were not detectable by our FISH probes, it also raises the possibility that another translocation/gene fusion may be present in angiomatoid fibrous histiocytoma.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 77, "end": 82}], "disease": [{"text": "translocation", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: In an independent high-grade myopia cohort, an intronic SNP in UHRF1BP1L, rs4764971, was validated for quantitative association, and SNPs within PTPRR (quantitative) and PPFIA2 (qualitative and quantitative) approached significance.", "output": {"entities": {"gene": [{"text": "UHRF1BP1L", "start": 76, "end": 85}], "disease": [{"text": "myopia", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Squamous cell carcinoma antigen 1 promotes caspase-8-mediated apoptosis in response to endoplasmic reticulum stress while inhibiting necrosis induced by lysosomal injury.", "output": {"entities": {"gene": [{"text": "Squamous cell carcinoma antigen 1", "start": 0, "end": 33}], "disease": [{"text": "necrosis", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Results of this study demonstrate the dependence of insulin-like growth binding proteins as well as IGF2BP3 and HTRA1 gene expressions in U87 glioma cells on ERN1 signaling enzyme function and hypoxia, indicating its participation in the regulation of metabolic and proliferative processes via IGF/INS receptors, because endoplasmic reticulum stress is an important component of tumor growth and metabolic diseases.", "output": {"entities": {"gene": [{"text": "HTRA1 gene", "start": 112, "end": 122}], "disease": [{"text": "glioma", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Therefore we hypothesized that AQP1 water channels may be involved in joint swelling and synovial edema formation.", "output": {"entities": {"gene": [{"text": "AQP1", "start": 31, "end": 35}], "disease": [{"text": "joint swelling", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Moreover, both somatic and vegetative signs of naloxone-induced morphine withdrawal symptoms were substantially reduced in GAT1-overexpressing mice.", "output": {"entities": {"gene": [{"text": "GAT1", "start": 123, "end": 127}], "disease": [{"text": "withdrawal symptoms", "start": 73, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GAT1", "start": 123, "end": 127}, "tail": {"text": "withdrawal symptoms", "start": 73, "end": 92}}]}}, "schema": []}
{"input": "We next determined the cellular localization and expression levels of four ubiquitously expressed PCs (furin, PACE4, PC5/6 and PC7) in post-menopausal endometrial biopsies from control (n = 7) and endometrial cancer patients (n = 30) by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "PC7", "start": 127, "end": 130}], "disease": [{"text": "endometrial cancer", "start": 197, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Dabrafenib and trametinib versus dabrafenib and placebo for Val600 BRAF-mutant melanoma: a multicentre, double-blind, phase 3 randomised controlled trial.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 67, "end": 71}], "disease": [{"text": "blind", "start": 111, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "This lends further evidence to HGV infection not being a cause of cryptogenic cirrhosis and not being associated with the development of HCC in cryptogenic cirrhosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 137, "end": 140}], "disease": [{"text": "cryptogenic cirrhosis", "start": 66, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "CD77 and/or SLT-1 binding was detected by flow cytometry and immunocytochemistry on lymphoma and breast cancer cells recovered from biopsies of primary human cancers as well as on B cells or plasma cells present in blood/bone marrow samples of multiple myeloma patients.", "output": {"entities": {"gene": [{"text": "SLT", "start": 12, "end": 15}], "disease": [{"text": "multiple myeloma", "start": 244, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "CD40L figures prominently in atherogenesis.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 0, "end": 5}], "disease": [{"text": "atherogenesis", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated.", "output": {"entities": {"gene": [{"text": "CIAS1", "start": 250, "end": 255}], "disease": [{"text": "CINCA syndrome", "start": 74, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CIAS1", "start": 250, "end": 255}, "tail": {"text": "CINCA syndrome", "start": 74, "end": 88}}]}}, "schema": []}
{"input": "Taken together these data indicate that the p50 NF-kappaB subunit plays a critical protective role in the injured liver by limiting the expression of TNF-alpha and its recruitment of inflammatory cells.", "output": {"entities": {"gene": [{"text": "p50", "start": 44, "end": 47}], "disease": [{"text": "liver", "start": 114, "end": 119}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "p50", "start": 44, "end": 47}, "tail": {"text": "liver", "start": 114, "end": 119}}]}}, "schema": []}
{"input": "Diabetes-associated variants in CDKAL1, CDKN2B, HHEX/IDE, IGF2BP2, KCNJ11, SLC30A8 and TCF7L2 are associated with physiological alterations leading to T2DM, such as glucose intolerance, impaired insulin secretion or insulin resistance, supporting their role in the disease aetiology.", "output": {"entities": {"gene": [{"text": "IDE", "start": 53, "end": 56}], "disease": [{"text": "insulin resistance", "start": 216, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "We also performed bioinformatic analyses using TargetScan and miRanda and cloned both the wild-type and mutant versions of the human cancerous inhibitor of protein phosphatase 2A (CIP2A) and B lymphoma Mo-MLV insertion region 1 (BMI1) 3'-UTR fragments into the pmirGLO reporter vector.", "output": {"entities": {"gene": [{"text": "CIP2A", "start": 180, "end": 185}], "disease": [{"text": "lymphoma", "start": 193, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "mRNA editing was assessed in prefrontal cortex of 24 MDD (Suic), 21 MDD (NoSuic), and 56 NC using next generation sequencing. mRNA expression of 5-HT (2C) R and editing enzymes (ADAR1-2) was assessed by real-time PCR.", "output": {"entities": {"gene": [{"text": "5-HT (2C", "start": 145, "end": 153}], "disease": [{"text": "MDD (Suic", "start": 53, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (2C", "start": 145, "end": 153}, "tail": {"text": "MDD (Suic", "start": 53, "end": 62}}]}}, "schema": []}
{"input": "Our results suggest that the aberrant REST-mediated transcriptional regulation of, at least, CRH, adenylate cyclase 5, and tumor necrosis factor superfamily, member 12-13, might be state-dependent and associated with the pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "adenylate cyclase 5", "start": 98, "end": 117}], "disease": [{"text": "major depression", "start": 240, "end": 256}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "adenylate cyclase 5", "start": 98, "end": 117}, "tail": {"text": "major depression", "start": 240, "end": 256}}]}}, "schema": []}
{"input": "Compared with sham-infected, OVA-treated mice, virus-infected mice showed increased lung infiltration with neutrophils, eosinophils and macrophages, airway cholinergic hyperresponsiveness, and increased lung expression of cytokines including eotaxin-1/CCL11, IL-4, IL-13, and IFN-gamma.", "output": {"entities": {"gene": [{"text": "IFN", "start": 276, "end": 279}], "disease": [{"text": "lung infiltration", "start": 84, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c. 23G & gt; T [p. Gly8Val]) in GJA1, which cosegregated with the phenotype in the family.", "output": {"entities": {"gene": [{"text": "GJA1", "start": 131, "end": 135}], "disease": [{"text": "KHLS", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJA1", "start": 131, "end": 135}, "tail": {"text": "KHLS", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "The CXCR3 chemokine receptor, a member of the CXCR family, has been linked to a pathological role in autoimmune disease, inflammatory disease, allograft rejection, and ischemia.", "output": {"entities": {"gene": [{"text": "CXCR3", "start": 4, "end": 9}], "disease": [{"text": "autoimmune disease", "start": 101, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CXCR3", "start": 4, "end": 9}, "tail": {"text": "autoimmune disease", "start": 101, "end": 119}}]}}, "schema": []}
{"input": "To characterize the lymphocytic thyroiditis (LT) of BB/W rats further and to evaluate early increases of cytokine gene expression in LT, we investigated the interleukin (IL)-2,-4,-6,-10,-12p40, interferon-gamma (IFN-gamma) and tumor necrosis factor-alpha (TNF-alpha) gene expression in the thyroids, spleens, and livers of BB/W rats with and without histological evidence for thyroiditis.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 256, "end": 265}], "disease": [{"text": "thyroiditis", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the cytokines IL-4, IL-10 and IL-13 which have a protective effect against vascular injury leading to atherosclerosis, dose dependently down regulate the biosynthesis of fibrinogen.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 33, "end": 38}], "disease": [{"text": "fibrinogen", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical expression of AQP1, AQP5, Bcl-2 and p16 was investigated in 107 consecutive oro-hypopharyngeal squamous cell carcinoma cases.", "output": {"entities": {"gene": [{"text": "AQP1", "start": 34, "end": 38}], "disease": [{"text": "hypopharyngeal squamous cell carcinoma", "start": 100, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Disruption of TCBA1 associated with a de novo t (1; 6) (q32. 2; q22. 3) presenting in a child with developmental delay and recurrent infections.", "output": {"entities": {"gene": [{"text": "TCBA1", "start": 14, "end": 19}], "disease": [{"text": "recurrent infections", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To determine the maximum tolerated dose (MTD), toxicity spectrum, clinical activity, and biological effects of the tropism-modified, infectivity-enhanced conditionally replicative adenovirus (CRAd), Ad5-Δ24-Arg-Gly-Asp (RGD), in patients with malignant gynecologic diseases.", "output": {"entities": {"gene": [{"text": "MTD", "start": 41, "end": 44}], "disease": [{"text": "adenovirus", "start": 180, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, activation of both Th1/Th17 cells and regulatory T cells (Tregs) by TGFβ1 reversely regulated by IL-6 highlights the dual role of TGFβ1 in regulating inflammation, a dynamic, context and organ specific process.", "output": {"entities": {"gene": [{"text": "Th1", "start": 32, "end": 35}], "disease": [{"text": "inflammation", "start": 163, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Human T-cell lymphotropic virus type 1 (HTLV-1), the cause of inapparent infections and T-cell leukemias and lymphomas, has also been implicated in two chronic neurological diseases, tropical spastic paraparesis (TSP) and HTLV-1 associated myelopathy (HAM).", "output": {"entities": {"gene": [{"text": "TSP", "start": 213, "end": 216}], "disease": [{"text": "infections", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Importantly, RNA interference-based attenuation of either STAT3 or Fra-1 prevented IL-6-induced EMT, cell migration and invasion, whereas ectopic expression of Fra-1 markedly reversed the STAT3-knockdown effect and enhanced CRC cell aggressiveness by regulating the expression of EMT-promoting factors (ZEB1, Snail, Slug, MMP-2 and MMP-9).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 83, "end": 87}], "disease": [{"text": "aggressiveness", "start": 233, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Whole-exome-and whole-genome-sequencing of MHH-CALL-2 revealed homozygous non-synonymous coding mutations predicted to be deleterious for the protein function of 63 genes, among them known cancer-associated genes, such as FANCA, NF1, TCF7L2, CARD11, EP400, histone demethylases, and transferases (KDM6B, KDM1A, PRDM11).", "output": {"entities": {"gene": [{"text": "PRDM11", "start": 311, "end": 317}], "disease": [{"text": "cancer", "start": 189, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "To understand the mechanisms of CMM metastasis and identify potential predictive markers, we analyzed gene-expression profiles of 34 vertical growth phase melanoma cases using cDNA microarrays.", "output": {"entities": {"gene": [{"text": "CMM", "start": 32, "end": 35}], "disease": [{"text": "metastasis", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Asic3 (-/-) mice demonstrated a blunted response to isoproterenol-induced cardiac tachycardia and prolonged duration to recover to baseline heart rate.", "output": {"entities": {"gene": [{"text": "Asic3", "start": 13, "end": 18}], "disease": [{"text": "heart rate", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we examined whether the DRD2TaqIA and MAOA-uVNTR gene polymorphisms are susceptibility factors for alcoholism comorbid with bipolar disorder (ALC + BP) in Han Chinese in Taiwan.", "output": {"entities": {"gene": [{"text": "ALC", "start": 153, "end": 156}], "disease": [{"text": "bipolar disorder", "start": 135, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "On the contrary, only silent mutations in sporadic cancers correlate with SF2/ASF motifs in p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 92, "end": 95}], "disease": [{"text": "sporadic", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Two weeks after stroke, the number of Nop2/nestin double positive cells in the region affected by ischemia and the periventricular zone substantially increased.", "output": {"entities": {"gene": [{"text": "Nop2", "start": 38, "end": 42}], "disease": [{"text": "ischemia", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We studied the influence of both polymorphisms on age of onset in Lynch syndrome and of the p53 polymorphism also in sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 92, "end": 95}], "disease": [{"text": "sporadic", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Histopathological evaluation showed that treatment with selenium after ischemia significantly attenuated IR-induced neuronal death in prefrontal cortex and hippocampal CA1 regions of rats.", "output": {"entities": {"gene": [{"text": "CA1", "start": 168, "end": 171}], "disease": [{"text": "ischemia", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "deficiencies or dysfunctions of antithrombin III, protein C, protein S, plasminogen and fibrinogen.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 32, "end": 48}], "disease": [{"text": "fibrinogen", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Triarylmethane (TRAM)-34, a KCa3. 1 blocker, dose-dependently inhibited the generation and maintenance of the ovalbumin-induced airway inflammation associated with increased Th2-type cytokines and decreased Th1-type cytokine, as well as subepithelial extracellular matrix deposition, goblet-cell hyperplasia, and AHR in a murine model of asthma.", "output": {"entities": {"gene": [{"text": "TRAM", "start": 16, "end": 20}], "disease": [{"text": "inflammation", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study is to examine whether Cdk5 is involved in ATRA-induced growth arrest of the castration-resistant cancer cell line DU145 through up-regulating Cdk inhibitor protein, p27.", "output": {"entities": {"gene": [{"text": "p27", "start": 191, "end": 194}], "disease": [{"text": "resistant cancer", "start": 113, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Using next-generation sequencing, we detected mutations in the ciliary outer dynein arm (ODA) heavy chain gene DNAH9 in individuals from PCD clinics with situs inversus and in one case male infertility.", "output": {"entities": {"gene": [{"text": "DNAH9", "start": 111, "end": 116}], "disease": [{"text": "PCD", "start": 137, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNAH9", "start": 111, "end": 116}, "tail": {"text": "PCD", "start": 137, "end": 140}}]}}, "schema": []}
{"input": "Also, the frequencies of elevated erythrocyte sedimentation rate and C-reactive protein values were found to be significantly higher in patients who had MEFV mutations.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 69, "end": 87}], "disease": [{"text": "elevated erythrocyte sedimentation rate", "start": 25, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The aims of the present study were to determine whether pure populations of myometrial microvascular endothelial cells (MEC) express ERalpha and ERbeta, to compare MEC ERalpha/ERbeta expression with that of pure populations of myometrial smooth muscle cells (SMC) and to determine if ERalpha/ERbeta are differentially expressed in MEC and SMC of myometrium and fibroids from nine paired samples.", "output": {"entities": {"gene": [{"text": "SMC", "start": 259, "end": 262}], "disease": [{"text": "fibroids", "start": 361, "end": 369}]}, "relations": {}}, "schema": []}
{"input": "(3) IGF1, IGFBP3 were positively correlated to intestinal VH, VSA, saccharase, body weight and length.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 4, "end": 8}], "disease": [{"text": "body weight", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The phenotype of the ABCB7-deficient cells was characterized by a strong reduction in proliferation rate that was not rescued by iron supplementation, by evident signs of iron deficiency, and by a large approximately 6-fold increase of iron accumulation in the mitochondria that was poorly available to mitochondrial ferritin.", "output": {"entities": {"gene": [{"text": "ABCB7", "start": 21, "end": 26}], "disease": [{"text": "iron deficiency", "start": 171, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "A combined analysis of all 60 families continued to support evidence for association of GRIA1 with psychotic BP; however, individual SNPs could not be replicated across datasets.", "output": {"entities": {"gene": [{"text": "GRIA1", "start": 88, "end": 93}], "disease": [{"text": "BP", "start": 109, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA1", "start": 88, "end": 93}, "tail": {"text": "BP", "start": 109, "end": 111}}]}}, "schema": []}
{"input": "To study the role of Smad4 in TGF-beta-induced translocation of the receptor-activated Smads to the nucleus, we analysed by immunofluorescence the cellular localization of endogenous Smad2 and Smad3 after TGF-beta treatment of VACO-9M, plus four additional Smad4 null cell lines of breast (MDA-MB-468), or pancreatic (BxPC3, Hs766T, CFPAC-1) origin.", "output": {"entities": {"gene": [{"text": "Smad4", "start": 21, "end": 26}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Taken together, PDX-1 and MafA play a crucial role in inducing surrogate beta-cells and could be a therapeutic target for diabetes.", "output": {"entities": {"gene": [{"text": "MafA", "start": 26, "end": 30}], "disease": [{"text": "diabetes", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings demonstrate that Dlg5 interacts with and inhibits the activity of Girdin, thereby suppressing the migration of prostate cancer cells.", "output": {"entities": {"gene": [{"text": "Girdin", "start": 95, "end": 101}], "disease": [{"text": "prostate cancer", "start": 140, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Colorectal cancer risk and rs3760806 in SULT2B1 were significantly associated in both genders [male: OR & #8201; = & #8201; 1. 38 (1. 15-1. 66); female: OR & #8201; = & #8201; 1. 38 (1. 13-1. 68)].", "output": {"entities": {"gene": [{"text": "SULT2B1", "start": 40, "end": 47}], "disease": [{"text": "Colorectal cancer", "start": 0, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SULT2B1", "start": 40, "end": 47}, "tail": {"text": "Colorectal cancer", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "The low frequency of clinical resistance to PDGFR inhibitors in myeloid neoplasms with abnormalities of PDGFRA might be related to the limited repertoire of possible PDGFRA kinase domain mutations in vitro.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 104, "end": 110}], "disease": [{"text": "abnormalities", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Therefore, to evaluate the role of AZI in regulating ODC activity in tumors, we successfully down-regulated AZI expression using RNA interference technology in A549 lung cancer cells expressing high levels of AZI.", "output": {"entities": {"gene": [{"text": "AZI", "start": 35, "end": 38}], "disease": [{"text": "lung cancer", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In a patient affected with a slowly progressive, severe form of Dejerine-Sottas syndrome, symmetric enlargement of cranial nerves and focal hypertrophy of cervical and caudal roots were detected following MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 205, "end": 208}], "disease": [{"text": "enlargement", "start": 100, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Additionally, we have characterized for the first time that the extracellular signal-regulated kinase (ERK) 1/2 signaling pathway is mainly involved in VEGF-induced PAI-1 expression and have demonstrated its potential as a target molecule for modulation of scar fibrosis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 152, "end": 156}], "disease": [{"text": "scar", "start": 257, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that NPTN may be involved in genetic susceptibility to schizophrenia.", "output": {"entities": {"gene": [{"text": "NPTN", "start": 27, "end": 31}], "disease": [{"text": "schizophrenia", "start": 77, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPTN", "start": 27, "end": 31}, "tail": {"text": "schizophrenia", "start": 77, "end": 90}}]}}, "schema": []}
{"input": "Genomewide linkage scan for diabetic renal failure and albuminuria: the FIND study.", "output": {"entities": {"gene": [{"text": "FIND", "start": 72, "end": 76}], "disease": [{"text": "renal failure", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "During development, Ptn transcripts and protein were expressed in ventral mesenchymal pad (VMP) and prostatic mesenchyme.", "output": {"entities": {"gene": [{"text": "VMP", "start": 91, "end": 94}], "disease": [{"text": "pad", "start": 86, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Seven PRRT2 mutations were identified in nine (90. 0%) familial cases and in six (28. 6%) sporadic cases.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 6, "end": 11}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Using a double-stranded RNA interference approach, we demonstrated that preventing the hypoxia inducible HSP70 enhanced down-regulation of syntaxin and synaptotagmin, and aggravated motor and sensory suppression.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 105, "end": 110}], "disease": [{"text": "hypoxia", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Neurochem., 83 (2002) 1262-1271] we reported that exposing cells of neuronal origin to a period of chronic hypoxia (CH; 2. 5% O (2), 24 h) led to a decrease in processing of the amyloid precursor protein (APP) by the alternative and neuroprotective alpha-secretase pathway.", "output": {"entities": {"gene": [{"text": "APP", "start": 205, "end": 208}], "disease": [{"text": "hypoxia", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "PCR array and subsequent transwell assay showed that the regulation of gastric cancer metastasis by RhoE was partially mediated by CXCR4.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 100, "end": 104}], "disease": [{"text": "gastric cancer", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The type 1 ryanodine receptor (RyR1) is a Ca2 + release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in several diseases, including malignant hyperthermia (MH) and central core disease (CCD).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 42, "end": 45}], "disease": [{"text": "malignant hyperthermia", "start": 159, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "All but one of the 109 amplicons were successfully read, and we identified the two PKHD1 mutations in 11 of the ARPKD cases, one mutation in 9 patients, and no mutation in only 2 patients.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 83, "end": 88}], "disease": [{"text": "ARPKD", "start": 112, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 83, "end": 88}, "tail": {"text": "ARPKD", "start": 112, "end": 117}}]}}, "schema": []}
{"input": "G17V RHOA: Genetic evidence of GTP-unbound RHOA playing a role in tumorigenesis in T cells.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 5, "end": 9}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Our data suggests the integration of cases with JAK2-PCM1 fusion in the respective WHO category of myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 169, "end": 175}], "disease": [{"text": "abnormalities", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Given that RNA helicase encoded by MDA-5 is a critical molecule involved in the innate immune defense against viruses, viral infection may play an important role in the pathogenesis of C-ADM and rapidly progressive ILD.", "output": {"entities": {"gene": [{"text": "ADM", "start": 187, "end": 190}], "disease": [{"text": "rapidly progressive", "start": 195, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The results were correlated with concentrations of fibrinogen, FVIII and thrombin-activatable fibrinolysis inhibitor (TAFI), and global haemostatic markers: endogenous thrombin potential (ETP) and overall haemostatic potential (OHP).", "output": {"entities": {"gene": [{"text": "FVIII", "start": 63, "end": 68}], "disease": [{"text": "fibrinogen", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis and confocal microscopy showed that the tight junction proteins claudin-5, JAM-1, occludin and zonula occluden-1 between endothelial cells were significantly degradated, but the protein expression of caveolin-1, the principal marker of caveolae in endothelial cells, increased after ischemia, all of which were alleviated by CG treatment.", "output": {"entities": {"gene": [{"text": "JAM-1", "start": 97, "end": 102}], "disease": [{"text": "ischemia", "start": 305, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry studies showed that these MSI-H unmethylated foci of atypical endometrial hyperplasia failed to express MLH1, as did regions of simple hyperplasia.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 125, "end": 129}], "disease": [{"text": "hyperplasia", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We believe that the relevance of nerve trunk hypertrophy in HMSN is probably underevaluated: therefore MRI investigation of the head and spine should be included in the diagnostic study of selected HMSN patients.", "output": {"entities": {"gene": [{"text": "MRI", "start": 103, "end": 106}], "disease": [{"text": "hypertrophy", "start": 45, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "For in vitro and in vivo experiments, MSCs were transfected with adenovirus carrying either enhanced green fluorescent protein gene (AdexCAEGFP) or cytosine deaminase gene (AdexCACD), to establish MSC-expressing EGFP (MSC-EGFP) or CD (MSC-CD).", "output": {"entities": {"gene": [{"text": "MSC", "start": 38, "end": 41}], "disease": [{"text": "adenovirus", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Like NPY, the gut hormone PYY has the potential to attenuate depression-like behaviour but does not share the ability of NPY to reduce anxiety-like behaviour.", "output": {"entities": {"gene": [{"text": "PYY", "start": 26, "end": 29}], "disease": [{"text": "depression", "start": 61, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PYY", "start": 26, "end": 29}, "tail": {"text": "depression", "start": 61, "end": 71}}]}}, "schema": []}
{"input": "21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 114, "end": 119}], "disease": [{"text": "21-hydroxylase deficiency", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 114, "end": 119}, "tail": {"text": "21-hydroxylase deficiency", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "Here, we report for the first time that mutations in CABP4 lead to autosomal recessive CSNB.", "output": {"entities": {"gene": [{"text": "CABP4", "start": 53, "end": 58}], "disease": [{"text": "CSNB", "start": 87, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CABP4", "start": 53, "end": 58}, "tail": {"text": "CSNB", "start": 87, "end": 91}}]}}, "schema": []}
{"input": "The translocation liposarcoma (TLS) gene is fused to the ETS-related gene (ERG) in human myeloid leukemia, resulting in the generation of a TLS-ERG protein.", "output": {"entities": {"gene": [{"text": "ERG", "start": 75, "end": 78}], "disease": [{"text": "liposarcoma", "start": 18, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "A correct transmission of BMP signaling via the Smad1/5/8 pathway could be demonstrated in WERI-Rb1 retinoblastoma cells and application of recombinant human BMP4 resulted in an increase in apoptosis, which to a large extend is caspase independent.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 48, "end": 53}], "disease": [{"text": "retinoblastoma", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "In SS gerbil, NPY immunoreactivity in the hippocampus was lower than that in seizure resistant gerbil.", "output": {"entities": {"gene": [{"text": "NPY", "start": 14, "end": 17}], "disease": [{"text": "seizure", "start": 77, "end": 84}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 14, "end": 17}, "tail": {"text": "seizure", "start": 77, "end": 84}}]}}, "schema": []}
{"input": "Apolipoprotein E (ApoE) is a major transporter of lipids and cholesterol in the nervous system.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 0, "end": 16}], "disease": [{"text": "nervous system", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The meta-analysis results demonstrated that the + 104T/C polymorphism in the 5'-UTR of GDF5 is associated with risk of knee osteoarthritis.", "output": {"entities": {"gene": [{"text": "UTR", "start": 80, "end": 83}], "disease": [{"text": "knee osteoarthritis", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Most of these obesity disorders, with the exception of the MC4R mutations, exhibit recessive inheritance and a distinct phenotype with varying degrees of hypothalamic dysfunction, and they unravel the critical role of the central leptin and melanocortin pathways in human appetite control and energy homeostasis.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 59, "end": 63}], "disease": [{"text": "hypothalamic dysfunction", "start": 154, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The histological findings and the expression of TPM3-ALK fusion gene confirmed a diagnosis of an inflammatory myofibroblastic tumor.", "output": {"entities": {"gene": [{"text": "TPM3", "start": 48, "end": 52}], "disease": [{"text": "inflammatory myofibroblastic tumor", "start": 97, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPM3", "start": 48, "end": 52}, "tail": {"text": "inflammatory myofibroblastic tumor", "start": 97, "end": 131}}]}}, "schema": []}
{"input": "There is increasing evidence that genes regulating the HPA axis have effects on suicidal behaviors.", "output": {"entities": {"gene": [{"text": "HPA", "start": 55, "end": 58}], "disease": [{"text": "suicidal", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Our study has revealed a molecular mechanism for the persistent activation of the SHH pathway which promotes the development of neuroblastoma, and suggests a new approach for the treatment of this childhood malignant tumor.", "output": {"entities": {"gene": [{"text": "SHH", "start": 82, "end": 85}], "disease": [{"text": "neuroblastoma", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that this region may be involved in the interface of sialidase binding with lysosomal cathepsin A and/or beta-galactosidase in their high-molecular-weight complex required for the expression of sialidase activity in the lysosome.", "output": {"entities": {"gene": [{"text": "cathepsin A", "start": 101, "end": 112}], "disease": [{"text": "weight", "start": 163, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Increased incidence of the TT genotype of the NOS3 rs1808593 SNP was found in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 46, "end": 50}], "disease": [{"text": "hypoxic-ischemic encephalopathy", "start": 91, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "During prolonged aura in FHM, MRI shows reduced CBF, capillary flow disturbances and a possible pH drop that could indicate tissue hypoxia.", "output": {"entities": {"gene": [{"text": "MRI", "start": 30, "end": 33}], "disease": [{"text": "hypoxia", "start": 131, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The CCN family members cysteine-rich 61 (Cyr61/CCN1), connective tissue growth factor (CTGF/CCN2) and nephroblastoma over-expressed (Nov/CCN3) play diverse roles in cells, are known to regulate cell growth, adhesion, matrix production and migration and are involved in endocrine-regulated pathways in various cell types.", "output": {"entities": {"gene": [{"text": "CCN1", "start": 47, "end": 51}], "disease": [{"text": "adhesion", "start": 207, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Several genes have been newly associated with gastric carcinogenesis, both through oncogenic activation (GSK3β, CD133, DSC2, P-Cadherin, CDH17, CD168, CD44, metalloproteinases MMP7 and MMP11, and a subset of miRNAs) and through tumor suppressor gene inactivation mechanisms (TFF1, PDX1, BCL2L10, XRCC, psiTPTE-HERV, HAI-2, GRIK2, and RUNX3).", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 323, "end": 328}], "disease": [{"text": "carcinogenesis", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We hereby report the molecular study of the WISP3 gene in nine unrelated consanguineous families originating from the Middle-East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD.", "output": {"entities": {"gene": [{"text": "WISP3", "start": 44, "end": 49}], "disease": [{"text": "PPD", "start": 228, "end": 231}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WISP3", "start": 44, "end": 49}, "tail": {"text": "PPD", "start": 228, "end": 231}}]}}, "schema": []}
{"input": "Three variants p. [Asn10Lys; Gln11Lys]; [Tyr283His] were identified in the GNRHR coding region in a male with sporadic complete nIHH.", "output": {"entities": {"gene": [{"text": "GNRHR", "start": 75, "end": 80}], "disease": [{"text": "sporadic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We assessed the efficacy of taxane chemotherapy in BRCA1-and BRCA2-associated patients compared with sporadic metastatic breast cancer patients.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 61, "end": 66}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.", "output": {"entities": {"gene": [{"text": "hyccin", "start": 14, "end": 20}], "disease": [{"text": "hypomyelination and congenital cataract", "start": 66, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hyccin", "start": 14, "end": 20}, "tail": {"text": "hypomyelination and congenital cataract", "start": 66, "end": 105}}]}}, "schema": []}
{"input": "In mouse MEL erythroleukemia cells, p16INK4a associates preferentially with cdk6 under conditions where cdk4 and cdk6 are coexpressed at equivalent levels.", "output": {"entities": {"gene": [{"text": "p16INK4a", "start": 36, "end": 44}], "disease": [{"text": "erythroleukemia", "start": 13, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "In both human sepsis blood leukocytes and an LPS tolerant human THP-1 cell model, we show that IκBα and v-rel reticuloendotheliosis viral oncogene homolog B (RelB) function as dominant labile mediators of fHC formation at the IL-1β promoter.", "output": {"entities": {"gene": [{"text": "IκBα", "start": 95, "end": 99}], "disease": [{"text": "sepsis", "start": 14, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "At the same time, overexpression of cyclin D1, Cdk4, and Rb was found in the corresponding lesion in adjacent esophageal sections.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 36, "end": 45}], "disease": [{"text": "esophageal", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Among the high abundance proteins identified were sets of proteins associated with inflammation, including the classical NFkappaB, p65 (RelA) and NFkappaB, p65 (RelB).", "output": {"entities": {"gene": [{"text": "RelB", "start": 161, "end": 165}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.", "output": {"entities": {"gene": [{"text": "GJB3", "start": 64, "end": 68}], "disease": [{"text": "Erythrokeratoderma variabilis", "start": 0, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB3", "start": 64, "end": 68}, "tail": {"text": "Erythrokeratoderma variabilis", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "In tumor-bearing C57BL/6 mice, a single intratumoral injection of OAdV220 produced detectable PNP activity for at least 6 days and with prodrug, retarded the growth of aggressive RM1 s. c. tumors by 35% at day 14.", "output": {"entities": {"gene": [{"text": "RM1", "start": 179, "end": 182}], "disease": [{"text": "tumors", "start": 189, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of mutations affecting PPT and ESE in the ASAH1 gene resulting in FD.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 67, "end": 72}], "disease": [{"text": "FD", "start": 91, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASAH1", "start": 67, "end": 72}, "tail": {"text": "FD", "start": 91, "end": 93}}]}}, "schema": []}
{"input": "BCAR4 mRNA levels were measured in primary breast tumours, and evaluated for association with progression-free survival (PFS) and clinical benefit in patients with oestrogen receptor (ER & #945;)-positive tumours receiving tamoxifen as first-line monotherapy for advanced disease.", "output": {"entities": {"gene": [{"text": "BCAR4", "start": 0, "end": 5}], "disease": [{"text": "breast tumours", "start": 43, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR4", "start": 0, "end": 5}, "tail": {"text": "breast tumours", "start": 43, "end": 57}}]}}, "schema": []}
{"input": "The results from this study provide strong evidence of a role for the SphK1/S1P/EDG1 pathway in liver metastasis, thus making it an attractive therapeutic target for the development of new anti-HCC drugs.", "output": {"entities": {"gene": [{"text": "HCC", "start": 194, "end": 197}], "disease": [{"text": "liver metastasis", "start": 96, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The two most widely expressed GRKs (GRK2 and GRK5) play a role in cardiovascular disease and thus represent important targets for the development of novel therapeutic drugs.", "output": {"entities": {"gene": [{"text": "GRK5", "start": 45, "end": 49}], "disease": [{"text": "cardiovascular disease", "start": 66, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRK5", "start": 45, "end": 49}, "tail": {"text": "cardiovascular disease", "start": 66, "end": 88}}]}}, "schema": []}
{"input": "Diagnostic criteria for MFS were fulfilled in 94 patients, 62 (66%) of whom had an FBN1 mutation.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 83, "end": 87}], "disease": [{"text": "MFS", "start": 24, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 83, "end": 87}, "tail": {"text": "MFS", "start": 24, "end": 27}}]}}, "schema": []}
{"input": "Taken together, our data indicate that impaired mTORC1 signaling and influenced ALP may contribute to TDP-43-mediated neurodegeneration.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 48, "end": 54}], "disease": [{"text": "neurodegeneration", "start": 118, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "CDK4, p27, and E2F-1 expression were examined in chondrosarcoma and osteochondroma of the jaws by immunohistochemical ABC method.", "output": {"entities": {"gene": [{"text": "p27", "start": 6, "end": 9}], "disease": [{"text": "osteochondroma", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "TLR2 and TRIF signaling are necessary for muscle regeneration after ischemia while MyD88 may instead mediate muscle injury.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 0, "end": 4}], "disease": [{"text": "ischemia", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Unmodified superoxide dismutase 1 variants that shared similar dissociation constants with SOD1 (WT) had disproportionately increased dissociation constants when glutathionylated.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 91, "end": 95}], "disease": [{"text": "dissociation", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Nevertheless, LPL activity was higher in Pro12Ala carriers than in non-carriers after adjusting for obesity, insulin resistance and inflammation.", "output": {"entities": {"gene": [{"text": "LPL", "start": 14, "end": 17}], "disease": [{"text": "insulin resistance", "start": 109, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "A case-control study was carried out, including 74 idiopathic infertile Algerian patients with NOA (n = 46) or severe OAT (n = 28) and 84 fertile men as controls.", "output": {"entities": {"gene": [{"text": "OAT", "start": 118, "end": 121}], "disease": [{"text": "infertile", "start": 62, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "AIM: To describe the relationship between airway IL-33 and markers of eosinophilic airway inflammation, as well potential triggers of IL-33, in mild, steroid-free asthma.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes.", "output": {"entities": {"gene": [{"text": "GFI1B", "start": 119, "end": 124}], "disease": [{"text": "storage pool deficiency", "start": 75, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GFI1B", "start": 119, "end": 124}, "tail": {"text": "storage pool deficiency", "start": 75, "end": 98}}]}}, "schema": []}
{"input": "In 57 specimens from 49 patients with MPNST (35 sporadic, 14 neurofibromatosis type 1-related), TA was determined using the telomeric repeat amplification protocol, and ALT was detected by assaying ALT-associated promyelocytic leukemia bodies (APB) and terminal restriction fragment (TRF) length distribution.", "output": {"entities": {"gene": [{"text": "TRF", "start": 284, "end": 287}], "disease": [{"text": "neurofibromatosis type 1", "start": 61, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Compared to wild type SH2B3, PH domain mutants have mild loss of function, with no evidence for a dominant-negative effect.", "output": {"entities": {"gene": [{"text": "SH2B3", "start": 22, "end": 27}], "disease": [{"text": "mild", "start": 52, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "That differences were observed between i (1q) carcinomas and der (1; 16) (q10; p10) carcinomas with regard to their patterns of clonal evolution hints that the pathogenetic effect of the primary change in these two situations may be more than the mere gain of an extra copy of 1q.", "output": {"entities": {"gene": [{"text": "p10", "start": 79, "end": 82}], "disease": [{"text": "carcinomas", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Theca cells of obese, compared to control, pigs displayed androstenedione hypersecretion in response to in vitro treatment with LH, and up-regulated 3-beta-hydroxysteroid dehydrogenase 1 and 17-beta-hydroxysteroid dehydrogenase 4 transcript levels in response to in vitro treatment with LH or LH + insulin.", "output": {"entities": {"gene": [{"text": "17-beta-hydroxysteroid dehydrogenase 4", "start": 191, "end": 229}], "disease": [{"text": "obese", "start": 15, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 84, "end": 89}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNB3", "start": 120, "end": 126}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNB3", "start": 120, "end": 126}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "In support of this hypothesis, ARK5 was induced when an MAFB or c-MAF expression vector was introduced into non-ARK5-expressing colon cancer cells.", "output": {"entities": {"gene": [{"text": "MAFB", "start": 56, "end": 60}], "disease": [{"text": "colon cancer", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Mutations in Pstpip2, LPIN2 and IL1RN have been identified in monogenic autoinflammatory bone disorders that have allowed more detailed dissection of the immunologic defects that can produce sterile osteomyelitis.", "output": {"entities": {"gene": [{"text": "IL1RN", "start": 32, "end": 37}], "disease": [{"text": "sterile", "start": 191, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Taken together, this study determines the levels of miR-19a and TNF-α in both DSS-induced experimental murine colitis and human UC and further demonstrates that miR-19a might directly regulate TNF-α.", "output": {"entities": {"gene": [{"text": "19a", "start": 56, "end": 59}], "disease": [{"text": "colitis", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The canonical MYC transcriptional target, p21, but not MTDH, was differentially expressed compared with Ewing sarcomas.", "output": {"entities": {"gene": [{"text": "MTDH", "start": 55, "end": 59}], "disease": [{"text": "sarcomas", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "According to the presence of two or three rearrangements, these lymphomas are called double-hit lymphomas or triple-hit lymphomas (THL), respectively.", "output": {"entities": {"gene": [{"text": "THL", "start": 131, "end": 134}], "disease": [{"text": "hit", "start": 92, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Yp-specific sequences, including the testicular determinant gene SRY, have been detected and located in a 46, XX true hermaphrodite individual, using PCR amplification and fluorescent in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 207, "end": 211}], "disease": [{"text": "true hermaphrodite", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Supporting this observation, mouse mammary tumor cells that have undergone EMT showed upregulated JNK activity, and the EMT was reversed by JNK inhibition.", "output": {"entities": {"gene": [{"text": "EMT", "start": 75, "end": 78}], "disease": [{"text": "mammary tumor", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "In vivo, combined usage of PEP-1-SOD1 and PEP-1-CAT produced a greater effect than individual proteins on the reduction of CK-MB, cTnT, apoptosis rate, lipoxidation end product malondialdehyde, and the infarct size of myocardium.", "output": {"entities": {"gene": [{"text": "PEP", "start": 27, "end": 30}], "disease": [{"text": "infarct", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "In addition, forced overexpression of CYP2J2, and CYP BM3F87V or addition of epoxyeicosatrienoic acids (EET) in cultured carcinoma cell lines in vitro markedly accelerated proliferation by analyses of 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide, cell accounts, and cell cycle analysis, and protected carcinoma cells from apoptosis induced by tumor necrosis factor alpha (TNF-alpha) in cultures.", "output": {"entities": {"gene": [{"text": "CYP2J2", "start": 38, "end": 44}], "disease": [{"text": "carcinoma", "start": 121, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "MSI promotes tumorigenesis through generating mutations in target genes that possess coding microsatellite repeats, such as TGFBR2 and BAX.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 124, "end": 130}], "disease": [{"text": "tumorigenesis", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Exposing MV-SMC to hypoxia (1% O2) revealed a different pattern of expression with no significant change in TACE protein, but an increase in TACE mRNA occurring at a later time point (48 hours).", "output": {"entities": {"gene": [{"text": "SMC", "start": 12, "end": 15}], "disease": [{"text": "hypoxia", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Several differentially expressed genes were associated with tumor suppression, invasion, and metastasis, including SPP1 (osteopontin), COL18A1 (endostatin), PTPRK, and DOCK4.", "output": {"entities": {"gene": [{"text": "PTPRK", "start": 157, "end": 162}], "disease": [{"text": "metastasis", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These observations led us to ask whether axon dysinnervation is a primary phenotype, and why the E421K, but not other, TUBB2B substitutions cause CFEOM.", "output": {"entities": {"gene": [{"text": "TUBB2B", "start": 119, "end": 125}], "disease": [{"text": "CFEOM", "start": 146, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TUBB2B", "start": 119, "end": 125}, "tail": {"text": "CFEOM", "start": 146, "end": 151}}]}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "GRID1", "start": 124, "end": 129}], "disease": [{"text": "addiction", "start": 73, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We provide evidence that approximately 27% of ERBB2-positive human breast cancer specimens display high expression of HES1, phospho-S6RP, and GLUT1.", "output": {"entities": {"gene": [{"text": "HES1", "start": 118, "end": 122}], "disease": [{"text": "breast cancer", "start": 67, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HES1", "start": 118, "end": 122}, "tail": {"text": "breast cancer", "start": 67, "end": 80}}]}}, "schema": []}
{"input": "Erythropoietic protoporphyria (EPP) is a genetic disease that results from the defective mutation in the gene encoding ferrochelatase (FECH), the enzyme that converts protoporphyrin IX (PPIX) to heme.", "output": {"entities": {"gene": [{"text": "ferrochelatase", "start": 119, "end": 133}], "disease": [{"text": "Erythropoietic protoporphyria", "start": 0, "end": 29}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ferrochelatase", "start": 119, "end": 133}, "tail": {"text": "Erythropoietic protoporphyria", "start": 0, "end": 29}}]}}, "schema": []}
{"input": "In patients with this diffuse infiltrative lymphocytosis syndrome (DILS) the CD8 lymphocytosis, which probably depends on histocompatibility antigen status, may influence disease progression in HIV infection.", "output": {"entities": {"gene": [{"text": "CD8", "start": 77, "end": 80}], "disease": [{"text": "diffuse infiltrative lymphocytosis syndrome", "start": 22, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry (IHC) was performed to analyze CBR1 expression in 78 cases of HCC and 123 cases of colon cancer tissues.", "output": {"entities": {"gene": [{"text": "CBR1", "start": 52, "end": 56}], "disease": [{"text": "HCC", "start": 83, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CBR1", "start": 52, "end": 56}, "tail": {"text": "HCC", "start": 83, "end": 86}}]}}, "schema": []}
{"input": "IL-10 mRNA was not detected while IL-4 mRNA was primarily detected in naïve T-lymphocytes of patients with a mild and early lesion.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 34, "end": 38}], "disease": [{"text": "mild", "start": 109, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In view of the high frequency of R117H-7T identified by cystic fibrosis newborn screening, the uncertain outcome of the asymptomatic children, and physicians' difficulty in managing these situations, we propose the withdrawal of the R117H variant from the panels of CFTR mutations used in cystic fibrosis newborn screening, given the expanding implementation of cystic fibrosis newborn screening.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 266, "end": 270}], "disease": [{"text": "asymptomatic", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "The phospholipase C-gamma1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism.", "output": {"entities": {"gene": [{"text": "PLCG1", "start": 33, "end": 38}], "disease": [{"text": "bipolar disorder", "start": 63, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLCG1", "start": 33, "end": 38}, "tail": {"text": "bipolar disorder", "start": 63, "end": 79}}]}}, "schema": []}
{"input": "The prevalence of aneuploidy and tetraploidy was not statistically different in the three groups with different BRCA1 status.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 112, "end": 117}], "disease": [{"text": "aneuploidy", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.", "output": {"entities": {"gene": [{"text": "DOT1L", "start": 49, "end": 54}], "disease": [{"text": "ADC", "start": 75, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DOT1L", "start": 49, "end": 54}, "tail": {"text": "ADC", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "The gene-environment interaction between current smoking and three or more APE1 148Glu or XRCC1 399Gln alleles was statistically significant (OR 2. 44, 95% CI 1. 00-9. 22, P = 0. 049).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 90, "end": 95}], "disease": [{"text": "smoking", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, APOA1 M2 (+/-) and APOC3 SstI polymorphisms may not be associated with gallstone disease.", "output": {"entities": {"gene": [{"text": "APOA1", "start": 19, "end": 24}], "disease": [{"text": "gallstone disease", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The present study was performed to determine whether NF-kappa B was activated in vivo by global ischemia in hippocampal CA1 neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 120, "end": 123}], "disease": [{"text": "ischemia", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We studied 61 patients with asthma and/or atopy and 129 to 157 newborn controls for the-403 RANTES,-28 RANTES, and-1055 IL-13 SNPs, as well as 47 patients and 60 newborn controls for the-444 LTC4S SNP.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 120, "end": 125}], "disease": [{"text": "atopy", "start": 42, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In the present study we systematically screened the coding region of POMC in 96 extremely obese children and adolescents, 60 healthy underweight individuals and 46 patients with anorexia nervosa (AN) and identified several variants.", "output": {"entities": {"gene": [{"text": "POMC", "start": 69, "end": 73}], "disease": [{"text": "underweight", "start": 133, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.", "output": {"entities": {"gene": [{"text": "AFG3L2", "start": 35, "end": 41}], "disease": [{"text": "Spinocerebellar ataxia 28", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AFG3L2", "start": 35, "end": 41}, "tail": {"text": "Spinocerebellar ataxia 28", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "NKX2. 2 suppresses self-renewal of glioma-initiating cells.", "output": {"entities": {"gene": [{"text": "NKX2. 2", "start": 0, "end": 7}], "disease": [{"text": "glioma", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We have characterized 11 HME families and 6 sporadic cases involving a total of 37 patients and performed mutational analysis of EXT1 and EXT2.", "output": {"entities": {"gene": [{"text": "HME", "start": 25, "end": 28}], "disease": [{"text": "sporadic", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Thus, our data suggest that the altered expression of DNMTs is state dependent and that the aberrant epigenetic gene regulations caused by the altered expression of DNMT1 and DNMT3B may be associated with the pathophysiology of mood disorders.", "output": {"entities": {"gene": [{"text": "DNMT3B", "start": 175, "end": 181}], "disease": [{"text": "mood disorders", "start": 228, "end": 242}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT3B", "start": 175, "end": 181}, "tail": {"text": "mood disorders", "start": 228, "end": 242}}]}}, "schema": []}
{"input": "Furthermore, p12 (CDK2-AP1) over-expression inhibited in vivo tumor growth in immunodeficiency mice, supporting an inhibitory role for p12 (CDK2-AP1) in breast cancer development.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 18, "end": 22}], "disease": [{"text": "immunodeficiency", "start": 78, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "This chromosomal translocation generates a chimeric transcript that is formed by fusion of the 5' region of the Ewing' s sarcoma gene, EWS, with the 3' DNA-binding segment of WT1, the Wilms' tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "EWS", "start": 135, "end": 138}], "disease": [{"text": "chromosomal translocation", "start": 5, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Of three different genes responsible for USH1. USH1B maps to 11q13. 5 (ref.", "output": {"entities": {"gene": [{"text": "USH1B", "start": 47, "end": 52}], "disease": [{"text": "USH1", "start": 41, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USH1B", "start": 47, "end": 52}, "tail": {"text": "USH1", "start": 41, "end": 45}}]}}, "schema": []}
{"input": "Because the only human cell types that have so far been shown to synthesize proteoglycans that have heparin-like glycosaminoglycans bound to a protease-resistant peptide core are mast cells and basophilic leukocytes from patients with myelogenous leukemia, it is possible that the HBM-M cell is a mast cell progenitor cell.", "output": {"entities": {"gene": [{"text": "HBM", "start": 281, "end": 284}], "disease": [{"text": "myelogenous leukemia", "start": 235, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "The present study evaluates the association between the Pro12Ala polymorphism of PPARγ2 and the progression of albuminuria and decay in glomerular filtration rate (GFR) in type 2 diabetes.", "output": {"entities": {"gene": [{"text": "GFR", "start": 164, "end": 167}], "disease": [{"text": "albuminuria", "start": 111, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The 2007 American Society of Clinical Oncology and College of American Pathologists (ASCO/CAP) joint guidelines defined criteria for HER2 positivity of tumors that modified those of the US Food and Drug Administration (FDA), causing some confusion and uncertainty among clinicians.", "output": {"entities": {"gene": [{"text": "HER2", "start": 133, "end": 137}], "disease": [{"text": "confusion", "start": 238, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Since the rs2476601 risk allele frequency differs dramatically across ethnicities, we assessed robustness of PTPN22 association with SLE and its clinical sub-phenotypes across four ethnically diverse populations.", "output": {"entities": {"gene": [{"text": "PTPN22", "start": 109, "end": 115}], "disease": [{"text": "SLE", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTPN22", "start": 109, "end": 115}, "tail": {"text": "SLE", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "NFκB up-regulation of glucose transporter 3 is essential for hyperactive mammalian target of rapamycin-induced aerobic glycolysis and tumor growth.", "output": {"entities": {"gene": [{"text": "glucose transporter 3", "start": 22, "end": 43}], "disease": [{"text": "hyperactive", "start": 61, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Aberrant interferon expression occurs in patients in whom ADAR1 mutations cause Aicardi-Goutières syndrome (AGS) or dystonia arising from striatal neurodegeneration.", "output": {"entities": {"gene": [{"text": "ADAR1", "start": 58, "end": 63}], "disease": [{"text": "neurodegeneration", "start": 147, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Malfunction of mismatch repair (MMR) system and p53 produces nuclear genomic instability and is involved in colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 32, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.", "output": {"entities": {"gene": [{"text": "keratin 5", "start": 42, "end": 51}], "disease": [{"text": "Weber-Cockayne epidermolysis bullosa", "start": 77, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 5", "start": 42, "end": 51}, "tail": {"text": "Weber-Cockayne epidermolysis bullosa", "start": 77, "end": 113}}]}}, "schema": []}
{"input": "We investigated the effect of IL-25 on the expression of several adhesion molecules on human eosinophils and the underlying intracellular mechanisms.", "output": {"entities": {"gene": [{"text": "IL-25", "start": 30, "end": 35}], "disease": [{"text": "adhesion", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "CD5-positive, cyclinD1-negative mantle cell lymphoma with a translocation involving the CCND2 gene and the IGL locus.", "output": {"entities": {"gene": [{"text": "CCND2 gene", "start": 88, "end": 98}], "disease": [{"text": "translocation", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, although NAT2 genotype did not influence risk either alone or in combination with smoking exposure, there was evidence of a statistically significant gene-gene-environment three-way interaction.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 24, "end": 28}], "disease": [{"text": "smoking", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Both SST methylation frequency and normalized methylation value (NMV) were significantly higher in Barrett metaplasia without dysplasia or EAC (BE), low-grade and high-grade (HGD) dysplasia occurring in BE, EAC, and ESCC than in NE (P & lt;. 01).", "output": {"entities": {"gene": [{"text": "SST", "start": 5, "end": 8}], "disease": [{"text": "Barrett metaplasia", "start": 99, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SST", "start": 5, "end": 8}, "tail": {"text": "Barrett metaplasia", "start": 99, "end": 117}}]}}, "schema": []}
{"input": "Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans.", "output": {"entities": {"gene": [{"text": "EDNRB", "start": 63, "end": 68}], "disease": [{"text": "pigment", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Twenty-five of the ALD probands whose ALD genes appeared normal by Southern blot analysis were surveyed for mutations by Single Strand Conformation Polymorphism (SSCP) procedures and DNA sequence analysis.", "output": {"entities": {"gene": [{"text": "ALD", "start": 19, "end": 22}], "disease": [{"text": "ALD", "start": 38, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALD", "start": 19, "end": 22}, "tail": {"text": "ALD", "start": 38, "end": 41}}]}}, "schema": []}
{"input": "Our important findings could provide a novel cancer therapy strategy by blocking either Ser-176 or Ser-165 phosphorylation or both of YBX1 in colon cancer.", "output": {"entities": {"gene": [{"text": "YBX1", "start": 134, "end": 138}], "disease": [{"text": "colon cancer", "start": 142, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "YBX1", "start": 134, "end": 138}, "tail": {"text": "colon cancer", "start": 142, "end": 154}}]}}, "schema": []}
{"input": "The top psychosis-associated, differentially methylated region, significantly hypomethylated in affected twins, was located in the promoter of ST6GALNAC1 overlapping a previously reported rare genomic duplication observed in SZ.", "output": {"entities": {"gene": [{"text": "ST6GALNAC1", "start": 143, "end": 153}], "disease": [{"text": "psychosis", "start": 8, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ST6GALNAC1", "start": 143, "end": 153}, "tail": {"text": "psychosis", "start": 8, "end": 17}}]}}, "schema": []}
{"input": "With the exception of pharmacologically mediated weight gain, rrGH and rmGH had no adverse effects in 5-week oral toxicity studies and no production of anti-recombinant GH antibodies.", "output": {"entities": {"gene": [{"text": "GH", "start": 64, "end": 66}], "disease": [{"text": "weight gain", "start": 49, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GH", "start": 64, "end": 66}, "tail": {"text": "weight gain", "start": 49, "end": 60}}]}}, "schema": []}
{"input": "In contrast, NMI patients had a lower incidence of seizures than TSC patients with TSC1 mutations, but had a higher incidence of both renal angiomyolipomas and pulmonary lymphangioleiomyomatosis.", "output": {"entities": {"gene": [{"text": "NMI", "start": 13, "end": 16}], "disease": [{"text": "seizures", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism of CYP3A4 2 and eNOS genes in the diabetic patients with hyperlipidemia undergoing statin treatment.", "output": {"entities": {"gene": [{"text": "CYP3A4", "start": 16, "end": 22}], "disease": [{"text": "hyperlipidemia", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "SCN2A expression and the concentration of Cu-Zn SOD in the cerebral cortexes of patients with primary and secondary temporal lobe epilepsy and normal brain cortex tissues were detected.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 0, "end": 5}], "disease": [{"text": "secondary", "start": 106, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The native cancerous MUC1 protein was purified from ascites fluid of a patient suffering from small cell lung carcinoma by immunoaffinity chromatography and used as a standard preparation in the assay buffer.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 21, "end": 25}], "disease": [{"text": "ascites", "start": 52, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "This study was conducted to explore the effects of genetic polymorphisms (CYP1B1 * 2 G355T, CYP1B1 * 3 C4326G, and CYP2E1 * 5 G-1293C) and environmental factors (smoking and drinking) on susceptibility to laryngeal cancer in a Han Chinese study group.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 74, "end": 80}], "disease": [{"text": "smoking", "start": 162, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "SSTR5", "start": 141, "end": 146}], "disease": [{"text": "bipolar disorder", "start": 81, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSTR5", "start": 141, "end": 146}, "tail": {"text": "bipolar disorder", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "Family segregation studies were possible in four out of five probands and showed possible sex-specific differences: CELSR1 variants showed almost complete penetrance in females and were associated with early-onset lymphedema, whereas in males they showed incomplete penetrance and were associated with late onset of the condition.", "output": {"entities": {"gene": [{"text": "CELSR1", "start": 116, "end": 122}], "disease": [{"text": "early-onset lymphedema", "start": 202, "end": 224}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CELSR1", "start": 116, "end": 122}, "tail": {"text": "early-onset lymphedema", "start": 202, "end": 224}}]}}, "schema": []}
{"input": "The SDHD region contains another gene, DPP2/TIMM8B, the homolog of which causes dystonia and deafness seen in Mohr-Tranebjaerg syndrome.", "output": {"entities": {"gene": [{"text": "DPP2", "start": 39, "end": 43}], "disease": [{"text": "dystonia", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that SOHLH1 may be regarded as a new candidate gene for POI.", "output": {"entities": {"gene": [{"text": "SOHLH1", "start": 25, "end": 31}], "disease": [{"text": "POI", "start": 76, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOHLH1", "start": 25, "end": 31}, "tail": {"text": "POI", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "We studied the activity of caspase-1,-3 and-8 in the hippocampus of rats exhibiting status epilepticus induced by pilocarpine. All three caspases were activated.", "output": {"entities": {"gene": [{"text": "caspase-1", "start": 27, "end": 36}], "disease": [{"text": "status epilepticus", "start": 84, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase-1", "start": 27, "end": 36}, "tail": {"text": "status epilepticus", "start": 84, "end": 102}}]}}, "schema": []}
{"input": "We also found four families of HPD without any mutations in the coding region of GCH-I gene.", "output": {"entities": {"gene": [{"text": "GCH-I", "start": 81, "end": 86}], "disease": [{"text": "HPD", "start": 31, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCH-I", "start": 81, "end": 86}, "tail": {"text": "HPD", "start": 31, "end": 34}}]}}, "schema": []}
{"input": "In this study, 66 unrelated patients with USH1 were evaluated for defects in MYO7A using single-strand conformation polymorphism analysis and direct genomic sequencing.", "output": {"entities": {"gene": [{"text": "MYO7A", "start": 77, "end": 82}], "disease": [{"text": "USH1", "start": 42, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYO7A", "start": 77, "end": 82}, "tail": {"text": "USH1", "start": 42, "end": 46}}]}}, "schema": []}
{"input": "These genes included SELP, CCL2, and matrix metalloproteinase 3, which are involved in extravasation and adhesion of inflammatory cells.", "output": {"entities": {"gene": [{"text": "SELP", "start": 21, "end": 25}], "disease": [{"text": "adhesion", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The p. Gly1170Ser mutation of COL2A1 in the family described is responsible for pathology confined to the hip joint, which presents as isolated precocious hip OA, AVN of the femoral head, or Legg-Calv & #233;-Perthes disease.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 30, "end": 36}], "disease": [{"text": "Perthes disease", "start": 209, "end": 224}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 30, "end": 36}, "tail": {"text": "Perthes disease", "start": 209, "end": 224}}]}}, "schema": []}
{"input": "Global Igfbp1 deletion did result in a significant increase in body weight and body fat mass.", "output": {"entities": {"gene": [{"text": "Igfbp1", "start": 7, "end": 13}], "disease": [{"text": "body weight", "start": 63, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Therefore, in this study, we investigated the role of H (2) in glucose transport by studying cultured mouse C2C12 cells and human hepatoma Hep-G2 cells in vitro, in addition to three types of diabetic mice [Streptozotocin (STZ)-induced type 1 diabetic mice, high-fat diet-induced type 2 diabetic mice, and genetically diabetic db/db mice] in vivo.", "output": {"entities": {"gene": [{"text": "STZ", "start": 223, "end": 226}], "disease": [{"text": "hepatoma", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Human T-lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is an inflammatory neurologic disease caused by HTLV-1 infection, in which HTLV-1-infected CD4 (+) T cells and HTLV-1-specific CD8 (+) T cells may play a role in the disease pathogenesis.", "output": {"entities": {"gene": [{"text": "CD8", "start": 231, "end": 234}], "disease": [{"text": "tropical spastic paraparesis", "start": 65, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Lastly, a familial platelet disorder with a propensity to develop myeloid leukemia has been linked to 21q22. 1-22. 2 and conceivably might involve AML1, ERG or yet another gene.", "output": {"entities": {"gene": [{"text": "ERG", "start": 153, "end": 156}], "disease": [{"text": "platelet disorder", "start": 19, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2; MIM No.", "output": {"entities": {"gene": [{"text": "MIM", "start": 82, "end": 85}], "disease": [{"text": "cornea plana", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our study revealed a stage-dependent induction of Cyr61 mRNA and protein in breast cancer tumorigenesis and for the first time alternative splicing of the Cyr61 gene due to intron retention.", "output": {"entities": {"gene": [{"text": "Cyr61 gene", "start": 155, "end": 165}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Tumor DNA was obtained from BRCA1 (n = 14) and BRCA2 (n = 12) mutation carriers, as well as sporadic cases (n = 26).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 47, "end": 52}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Since Cx43 is the connexin isoform expressed preferentially in astrocytes in the spinal cord, we used a small interfering RNA (siRNA) approach to examine whether suppression of spinal Cx43 expression inhibits mechanical hypersensitivity in rats after an L5 spinal nerve ligation (SNL).", "output": {"entities": {"gene": [{"text": "SNL", "start": 280, "end": 283}], "disease": [{"text": "hypersensitivity", "start": 220, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "LPS plus hyperinflation (\" double-hit \") increased all ALI parameters (ELW, EVPE, permeability index, MPO activity) by 3-4 fold compared to control, which were again decreased by ropivacaine.", "output": {"entities": {"gene": [{"text": "MPO", "start": 102, "end": 105}], "disease": [{"text": "hit", "start": 34, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Differences in gene expression profiles were seen between centrifugal and centripetal perfusion patterns in the sulphotransferase family, cytosolic, 1 A, phenol-preferring, members 1 and 2 (SULT1A1, SULT1A2), poly (ADP-ribose) polymerase, member 6 (PARP6), and metastasis tumour antigen1 (MTA1).", "output": {"entities": {"gene": [{"text": "SULT1A2", "start": 199, "end": 206}], "disease": [{"text": "tumour", "start": 272, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "We present evidence that resumption of miR-211-mediated downregulation of PDK4 in melanoma cells causes inhibition of invasion by nonpigmented melanomas via HIF-1α protein destabilization.", "output": {"entities": {"gene": [{"text": "PDK4", "start": 74, "end": 78}], "disease": [{"text": "melanoma", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, these findings are in agreement with the human genetic studies suggesting a strong association of GRID1 gene with several neuropsychiatric disorders including schizophrenia, bipolar disorder, autism spectrum disorders and major depressive disorder.", "output": {"entities": {"gene": [{"text": "GRID1", "start": 111, "end": 116}], "disease": [{"text": "schizophrenia", "start": 172, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRID1", "start": 111, "end": 116}, "tail": {"text": "schizophrenia", "start": 172, "end": 185}}]}}, "schema": []}
{"input": "Immunohistochemical study of c-erbB-2 oncoprotein overexpression in human major salivary gland carcinoma: an indicator of aggressiveness.", "output": {"entities": {"gene": [{"text": "c-erbB-2", "start": 29, "end": 37}], "disease": [{"text": "aggressiveness", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The possibility that FGF2 is involved in ASM-cell hyperplasia is raised, not only because it induces ASM-cell proliferation by itself but because of recent findings showing that FGF2 confers to ASM cells the ability to proliferate in response to different asthma mediators.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 21, "end": 25}], "disease": [{"text": "hyperplasia", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Here we show that hypoxia induces CDCP1 expression and tyrosine phosphorylation in hypoxia-inducible factor (HIF)-2α-, but not HIF-1α-, dependent fashion.", "output": {"entities": {"gene": [{"text": "CDCP1", "start": 34, "end": 39}], "disease": [{"text": "hypoxia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The induction of HSP70 protein in hippocampus following increasing durations of global ischemia correlates with the regional and cellular vulnerability to ischemia: CA1 neurons express HSP70 after the briefest periods of ischemia followed by CA4, CA3, dentate granule neurons, glia, and lastly, endothelial cells.", "output": {"entities": {"gene": [{"text": "CA1", "start": 165, "end": 168}], "disease": [{"text": "ischemia", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Lp-PLA2 activity for men aged 50-79 years was significantly and positively related to intima-media thickness (IMT) (P = 0. 013) and plaque index (P = 0. 008) independent of traditional risk factors including small LDL particles, but not to coronary artery calcification (CAC) score.", "output": {"entities": {"gene": [{"text": "CAC", "start": 271, "end": 274}], "disease": [{"text": "coronary artery calcification", "start": 240, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Using a porcine model of myocardial ischemia-reperfusion injury during CPB with a 60-min aorta cross-clamp, 20 pigs (15 ± 0. 5 kg) were treated randomly with either a 1-ml (20, 000 IU/kg) IFN-γ injection (IFN-γ group; n = 10) or saline solution (control group; n = 10) 24 h prior to CPB.", "output": {"entities": {"gene": [{"text": "IFN", "start": 188, "end": 191}], "disease": [{"text": "myocardial ischemia", "start": 25, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Blockade of astrocyte gap junction with carbenoxolone (CBX) prevented oxaliplatin-induced mechanical hypersensitivity in a dose-dependent manner and the increase of spinal GFAP expression, but had no effect once the mechanical hypersensitivity induced by oxaliplatin had fully developed.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 172, "end": 176}], "disease": [{"text": "hypersensitivity", "start": 101, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 35, "end": 39}], "disease": [{"text": "adhesion", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "An increased risk was associated with an early age at menarche, a late age at first childbirth, nulliparity, premenopausal status and increasing periods of breast cell mitotic activity (BCMA) prior to the first childbirth.", "output": {"entities": {"gene": [{"text": "BCMA", "start": 186, "end": 190}], "disease": [{"text": "age at menarche", "start": 47, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate in a group of 34 Tunisian infertile patients (16 oligozoospermic and 18 azoospermic men) the prevalence of DAZ microdeletions using a rapid molecular strategy: the PCR-DGGE method based on the high degree of homology between the DAZ gene and its autosomally equivalent DAZLA gene.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 145, "end": 148}], "disease": [{"text": "infertile", "start": 64, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Placental growth factor is a susceptibility gene for nAMD in a Chinese population, providing new evidence to support a biological role of PGF in choroidal neovascularization.", "output": {"entities": {"gene": [{"text": "PGF", "start": 138, "end": 141}], "disease": [{"text": "choroidal neovascularization", "start": 145, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to describe the first family associating LQT-3 and AF due to a gain-of-function mutation in SCN5A and assess the usefulness of the sodium blocker flecainide in individuals with both phenotypes.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 122, "end": 127}], "disease": [{"text": "LQT-3", "start": 71, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 122, "end": 127}, "tail": {"text": "LQT-3", "start": 71, "end": 76}}]}}, "schema": []}
{"input": "These subsets were negatively associated with CD4 T cell counts and positively associated with plasma viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 46, "end": 49}], "disease": [{"text": "viremia", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "SMRT-GPS2 corepressor pathway dysregulation coincides with obesity-linked adipocyte inflammation.", "output": {"entities": {"gene": [{"text": "SMRT", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 84, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The allergen concentration inducing 50% of the maximal CD63 response was similar in patients with asthma [-0. 4795 log ng/ml ± 0. 092 (SE)] and controls (-0. 6351 log ng/ml ± 0. 083, ns) and in atopic and non-atopic subjects.", "output": {"entities": {"gene": [{"text": "CD63", "start": 55, "end": 59}], "disease": [{"text": "atopic", "start": 194, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "GOLPH3 expression was examined by immunohistochemistry in 18 normal ovarian samples, 28 benign tumors, 55 serous borderline ovarian tumors, and 135 epithelial ovarian carcinomas.", "output": {"entities": {"gene": [{"text": "GOLPH3", "start": 0, "end": 6}], "disease": [{"text": "benign tumors", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In multivariate logistic regression analysis, TNF-α A allele, gender and smoking were associated with myocardial infarction.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 46, "end": 51}], "disease": [{"text": "smoking", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Troponin I, cardiac diastolic dysfunction and restrictive cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Troponin I, cardiac", "start": 0, "end": 19}], "disease": [{"text": "diastolic dysfunction", "start": 20, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The new RGD modified vector Ad/TRAIL-F/RGD could become a potent therapeutic agent for the treatment of HCC, adenovirus resistant tumors, and CAR low or negative cancer cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 104, "end": 107}], "disease": [{"text": "adenovirus", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "GO and pathway analysis showed that DKK4 are associated with tumor and organ development and immune inflammation.", "output": {"entities": {"gene": [{"text": "DKK4", "start": 36, "end": 40}], "disease": [{"text": "inflammation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Over-expression of AEG-1 significantly associates with tumour aggressiveness and poor prognosis in human non-small cell lung cancer.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 19, "end": 24}], "disease": [{"text": "aggressiveness", "start": 62, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 54, "end": 64}], "disease": [{"text": "XLDCM", "start": 14, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dystrophin", "start": 54, "end": 64}, "tail": {"text": "XLDCM", "start": 14, "end": 19}}]}}, "schema": []}
{"input": "Imbalances in the regulation of Th1 and Th2 lymphocytes are crucial in inflammatory bowel diseases.", "output": {"entities": {"gene": [{"text": "Th1", "start": 32, "end": 35}], "disease": [{"text": "inflammatory bowel diseases", "start": 71, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Atherogenic dyslipidemia is associated with increased levels of chylomicrons and their remnants containing 3 main components: apolipoprotein B-48, triglycerides and cholesterol ester of intestinal origin.", "output": {"entities": {"gene": [{"text": "apolipoprotein B-48", "start": 126, "end": 145}], "disease": [{"text": "dyslipidemia", "start": 12, "end": 24}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "apolipoprotein B-48", "start": 126, "end": 145}, "tail": {"text": "dyslipidemia", "start": 12, "end": 24}}]}}, "schema": []}
{"input": "The proteinase activity that converts the membrane-bound form of CD23 into a soluble species (sCD23) is an important regulator of the function of CD23 and may be an important therapeutic target for the control of allergy and inflammation.", "output": {"entities": {"gene": [{"text": "CD23", "start": 65, "end": 69}], "disease": [{"text": "inflammation", "start": 225, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Only the BD brain demonstrated increased global histone H3 acetylation and hypermethylation of the promotor region for the drebrin-like protein gene.", "output": {"entities": {"gene": [{"text": "drebrin-like protein", "start": 123, "end": 143}], "disease": [{"text": "BD", "start": 9, "end": 11}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "drebrin-like protein", "start": 123, "end": 143}, "tail": {"text": "BD", "start": 9, "end": 11}}]}}, "schema": []}
{"input": "The haplotype carrying the risk alleles of rs6435326 and two other SNPs (rs1053517 and rs1801318) in NDUFS1 was also nominally associated with percentage of weight gain (T-C-G vs A-T-A, P = 0. 005).", "output": {"entities": {"gene": [{"text": "NDUFS1", "start": 101, "end": 107}], "disease": [{"text": "weight gain", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "TRH", "start": 270, "end": 273}], "disease": [{"text": "drinking", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Increased TLR2 and TLR4 expression correlated with BMI, homeostasis model assessment-insulin resistance (HOMA-IR), glucose, A1C, N (epsilon)-(carboxymethyl) lysine (CML), and free fatty acid (FFA).", "output": {"entities": {"gene": [{"text": "TLR2", "start": 10, "end": 14}], "disease": [{"text": "insulin resistance", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "An equivalent therapeutic plasmid weight of 10 microgram ALP plasmid in the same 500 microliter of liposomes, correlated to around 52-60% of alkaline phosphatase-positive cells in the squamous layer of the esophagus at 24 h. Administration of SOD2-PL prior to irradiation mediated a significant decrease in induction of cytokine mRNA by radiation and decreased apoptosis of squamous lining cells, micro-ulceration, and esophagitis.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 243, "end": 247}], "disease": [{"text": "esophagitis", "start": 419, "end": 430}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD2", "start": 243, "end": 247}, "tail": {"text": "esophagitis", "start": 419, "end": 430}}]}}, "schema": []}
{"input": "It is associated in 85% of cases with the t (11; 22) (q24: q12) chromosomal translocation that generates fusion of the 5' segment of the EWS gene with the 3' segment of the ETS family gene FLI-1.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 137, "end": 145}], "disease": [{"text": "chromosomal translocation", "start": 64, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we demonstrate that on the mRNA level hypoxic stimulation of HepG2 cells led to (i) an induction of the positive AP reactants alpha 1-antitrypsin, alpha 1-antichymotrypsin, complement C3, haptoglobin, and alpha 1-acid glycoprotein; (ii) a down-regulation of the negative AP reactant albumin; (iii) an up-regulation of the negative AP reactant transferrin; and (iv) unchanged levels of the positive AP reactants alpha-and beta-fibrinogen as well as hemopexin.", "output": {"entities": {"gene": [{"text": "hemopexin", "start": 470, "end": 479}], "disease": [{"text": "hypoxic", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Our report of the first Indonesian patient with clinically Bruck syndrome, confirms the role of causative recessive FKBP10 mutations in this syndrome.", "output": {"entities": {"gene": [{"text": "FKBP10", "start": 116, "end": 122}], "disease": [{"text": "Bruck syndrome", "start": 59, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FKBP10", "start": 116, "end": 122}, "tail": {"text": "Bruck syndrome", "start": 59, "end": 73}}]}}, "schema": []}
{"input": "Cerebrospinal fluid (CSF) from 450 children with suspected meningitis was tested with ICT, and results were compared with CSF culture, latex agglutination test (LAT) and/or polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "LAT", "start": 161, "end": 164}], "disease": [{"text": "meningitis", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Abnormal T4 binding to T4-binding prealbumin (TTR) is a rare cause of euthyroid hyperthyroxinemia, which is transmitted by autosomal dominant inheritance.", "output": {"entities": {"gene": [{"text": "TTR", "start": 46, "end": 49}], "disease": [{"text": "euthyroid hyperthyroxinemia", "start": 70, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "NPSR1 associations with AUD and alcohol use differed by sex.", "output": {"entities": {"gene": [{"text": "NPSR1", "start": 0, "end": 5}], "disease": [{"text": "alcohol use", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Of 54 SNPs that met quality control criteria after genotyping in SHS, 4 (rs4733946 and rs7012413 in FGFR1; rs2071616 in FGFR2 and rs7670903 in KLB) showed suggestive association with LDL-C (P = 0. 0006, P = 0. 0013, P = 0. 0055, P = 0. 011, respectively) and 1 (rs2608819 in KLB) was associated with body mass index (P = 0. 011); all with false discovery rate q < 0. 5.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 100, "end": 105}], "disease": [{"text": "body mass index", "start": 300, "end": 315}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, none of the other c-KIT or PDGFRA exons showed any abnormalities in our cases.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 42, "end": 48}], "disease": [{"text": "abnormalities", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Insulin resistance is prevalent in heart failure (HF) patients, and beta2 adrenergic receptors (beta2-AR) are involved in glucose homeostasis.", "output": {"entities": {"gene": [{"text": "beta2", "start": 68, "end": 73}], "disease": [{"text": "heart failure", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Association of family history of ESRD, prevalent albuminuria, and reduced GFR with incident ESRD.", "output": {"entities": {"gene": [{"text": "GFR", "start": 74, "end": 77}], "disease": [{"text": "albuminuria", "start": 49, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that HSP70 suppression by siRNA sensitized NSCLC cells to TRAIL-induced apoptosis by upregulating the expressions of death receptor 4 (DR4) and death receptor 5 (DR5) through activating NF-κB, JNK, and, subsequently, p53, consequently significantly amplifying TRAIL-mediated caspase-8 processing and activity, cytosolic translocation of cytochrome c, and cell death.", "output": {"entities": {"gene": [{"text": "DR5", "start": 178, "end": 181}], "disease": [{"text": "translocation", "start": 336, "end": 349}]}, "relations": {}}, "schema": []}
{"input": "We report a case of mild cavitating leukoencephalopathy associated with a homozygous c. 755A > G (p. Asp252Gly) NDUFS1 mutation in a 7-year old boy.", "output": {"entities": {"gene": [{"text": "NDUFS1", "start": 112, "end": 118}], "disease": [{"text": "mild", "start": 20, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In this report, 15 patients from 13 unrelated Chinese families with deafness and EVA were analyzed for SLC26A4 using direct sequencing.", "output": {"entities": {"gene": [{"text": "EVA", "start": 81, "end": 84}], "disease": [{"text": "deafness", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Novel interactions with serum PTH were identified between: weight and 25OHD; 25OHD and phosphate; and phosphate and thiazide diuretic use.", "output": {"entities": {"gene": [{"text": "PTH", "start": 30, "end": 33}], "disease": [{"text": "weight", "start": 59, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In the current study we investigated the efficacy of adenovirus-mediated in vivo NIS gene transfer followed by (131) I and (188) Re administration for the treatment of HCC xenografts.", "output": {"entities": {"gene": [{"text": "HCC", "start": 168, "end": 171}], "disease": [{"text": "adenovirus", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In contrast, in patients with alcoholic liver damage, high CD95 ligand messenger RNA expression was found in hepatocytes.", "output": {"entities": {"gene": [{"text": "CD95 ligand", "start": 59, "end": 70}], "disease": [{"text": "alcoholic liver damage", "start": 30, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice.", "output": {"entities": {"gene": [{"text": "Interleukin 6 receptor", "start": 0, "end": 22}], "disease": [{"text": "muscle atrophy", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism at the insulin gene (INS) variable number of tandem repeat (VNTR) shows variable associations with childhood body mass index (BMI) in different populations.", "output": {"entities": {"gene": [{"text": "INS", "start": 34, "end": 37}], "disease": [{"text": "body mass index", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "]), and not kinase dead AKT1 (179M) or AKT3 (177M), was capable of blocking invasion induced by either human epidermal growth factor receptor-2 (HER-2) overexpression or by activation of PI3-K. Taken together, these data indicate that AKT2 mediates PI3-K-dependent effects on adhesion, motility, invasion, and metastasis in vivo.", "output": {"entities": {"gene": [{"text": "PI3", "start": 187, "end": 190}], "disease": [{"text": "adhesion", "start": 276, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "To examine whether polymorphisms within the ESR1, FSHR, ESR2, CYP19A1, and NRIP1 genes are susceptibility factors for human male idiopathic infertility and to test the joint effects of these genes on male reproductive function.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 50, "end": 54}], "disease": [{"text": "infertility", "start": 140, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that DNA variants affecting neurodevelopment such as rs4307059 (CDH10/CDH9), rs930752 (NRXN1), rs6265 (BDNF) or rs10868235 (NTRK2) may predispose to completed suicide.", "output": {"entities": {"gene": [{"text": "CDH10", "start": 80, "end": 85}], "disease": [{"text": "suicide", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11. 2 microdeletion and a hemizygous SCARF2 splice site mutation.", "output": {"entities": {"gene": [{"text": "SCARF2", "start": 129, "end": 135}], "disease": [{"text": "VDEGS", "start": 37, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCARF2", "start": 129, "end": 135}, "tail": {"text": "VDEGS", "start": 37, "end": 42}}]}}, "schema": []}
{"input": "AIM: Oral squamous cell carcinoma (OSCC) is one of the most common malignancies in India.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "carcinoma", "start": 24, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The expression of TP, intratumoral MVDs and percentages of apoptotic cancer cells, expressed by the apoptotic index (AI), of 155 tumors from 155 patients with ESCC were analyzed by immunohistochemistry and compared.", "output": {"entities": {"gene": [{"text": "TP", "start": 18, "end": 20}], "disease": [{"text": "ESCC", "start": 159, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TP", "start": 18, "end": 20}, "tail": {"text": "ESCC", "start": 159, "end": 163}}]}}, "schema": []}
{"input": "Presence of BRCA1/2 genes mutations in young women is associated with more aggressiveness of the breast cancer (their 3-years survival is 25, 5% less) and absence of the ER, PR, HER-2 receptors, which is unfavorable prognostic factor in terms of hormone therapy.", "output": {"entities": {"gene": [{"text": "HER-2", "start": 178, "end": 183}], "disease": [{"text": "aggressiveness", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We found evidence for association between GABRA1 and COGA alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 42, "end": 48}], "disease": [{"text": "drunkenness", "start": 113, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA1", "start": 42, "end": 48}, "tail": {"text": "drunkenness", "start": 113, "end": 124}}]}}, "schema": []}
{"input": "In stepwise regression analysis, white blood cell count (P <. 001) and MCP-1 concentrations (P =. 002) were significantly associated with resistin concentrations, independent of hs-CRP, sex, body mass index, presence of the metabolic syndrome, and high-density lipoprotein cholesterol.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 71, "end": 76}], "disease": [{"text": "body mass index", "start": 191, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of genes for brain-derived neurotrophic factor, methylenetetrahydrofolate reductase, tyrosine hydroxylase, and endothelial nitric oxide synthase in depression and metabolic syndrome.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 99, "end": 119}], "disease": [{"text": "depression", "start": 162, "end": 172}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine hydroxylase", "start": 99, "end": 119}, "tail": {"text": "depression", "start": 162, "end": 172}}]}}, "schema": []}
{"input": "Mesenteric vein thrombosis in a patient heterozygous for factor V Leiden and G20210A prothrombin genotypes.", "output": {"entities": {"gene": [{"text": "prothrombin", "start": 85, "end": 96}], "disease": [{"text": "Mesenteric vein thrombosis", "start": 0, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prothrombin", "start": 85, "end": 96}, "tail": {"text": "Mesenteric vein thrombosis", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.", "output": {"entities": {"gene": [{"text": "S100A6", "start": 66, "end": 72}], "disease": [{"text": "medulloblastoma", "start": 134, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A6", "start": 66, "end": 72}, "tail": {"text": "medulloblastoma", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "This raises the hypothesis that one-carbon nutrients (folate, methionine, and the enzymic cofactors vitamins B2, B6, and B12), which mediate chromosomal stability and DNA methylation, may be protective for type II but not type I endometrial cancer.", "output": {"entities": {"gene": [{"text": "B12", "start": 121, "end": 124}], "disease": [{"text": "cancer", "start": 241, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking PACAP die suddenly in the second week of life, a phenotype that is exaggerated by mild thermal stress and bares resemblance to human SIDS.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 13, "end": 18}], "disease": [{"text": "mild", "start": 95, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively.", "output": {"entities": {"gene": [{"text": "HACE1", "start": 165, "end": 170}], "disease": [{"text": "chromosomal aberrations", "start": 46, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The data confirm that protein misfolding resulting in intracellular PAO accumulation is sufficient to cause cardiomyocyte death and heart failure.", "output": {"entities": {"gene": [{"text": "PAO", "start": 68, "end": 71}], "disease": [{"text": "heart failure", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Here, we aimed to determine the relationship between the annual decline in forced expiratory flow volume in one second (FEV1) and the variant of the glucocorticoid-induced transcript 1 gene (GLCCI1) in Japanese patients with asthma receiving long-term ICS treatment, taking into account the effect of high serum periostin levels, a known association factor of pulmonary function decline and a marker of refractory eosinophilic/Th2 inflammation.", "output": {"entities": {"gene": [{"text": "periostin", "start": 312, "end": 321}], "disease": [{"text": "pulmonary function", "start": 360, "end": 378}]}, "relations": {}}, "schema": []}
{"input": "This study is the first to show a novel NER mechanism by which drinking GTPs prevents UV-induced immunosuppression and that inhibiting UV-induced immunosuppression may underlie the chemopreventive activity of GTPs against photocarcinogenesis.", "output": {"entities": {"gene": [{"text": "NER", "start": 40, "end": 43}], "disease": [{"text": "drinking", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel mutation in PRKAG2 causing familial ventricular pre-excitation and severe cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 34, "end": 40}], "disease": [{"text": "cardiac hypertrophy", "start": 96, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In the AMT group, the corneal opacity was improved (P = 0. 011) and the area of corneal neovascularization was significantly decreased (P = 0. 005) compared with the control group.", "output": {"entities": {"gene": [{"text": "AMT", "start": 7, "end": 10}], "disease": [{"text": "corneal opacity", "start": 22, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that DNA sequence variation in genes regulating vitamin D metabolism and signaling pathways might influence variation in coronary artery calcification (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 168, "end": 171}], "disease": [{"text": "coronary artery calcification", "start": 137, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "In mice, both ligand-dependent activation and knockout of PXR were previously shown to promote hepatic steatosis.", "output": {"entities": {"gene": [{"text": "PXR", "start": 58, "end": 61}], "disease": [{"text": "hepatic steatosis", "start": 95, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PXR", "start": 58, "end": 61}, "tail": {"text": "hepatic steatosis", "start": 95, "end": 112}}]}}, "schema": []}
{"input": "In six men with infertility after surgery for cryptorchidism, the adult karyotype and analyses for the DAZ gene, serum follicle-stimulating hormone, luteinizing hormone, and testosterone were performed from a peripheral blood sample.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 103, "end": 106}], "disease": [{"text": "infertility", "start": 16, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Further density gradient fractionation of HepG2 membranes revealed that hypoxia caused an increase in total membrane IRP1, with a shift in the membrane-bound fraction from Golgi to an endoplasmic reticulum (ER)-enriched fraction.", "output": {"entities": {"gene": [{"text": "IRP1", "start": 117, "end": 121}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Two men with this condition, a 56 year old and a 31 year old presenting with acute SMVT, demonstrated on CT scan, were subjected to a thrombophilia screen consisting of Protein C, S, antithrombin levels, lupus anticoagulant, anticardiolipin antibodies, fibrinogen levels, factor VIII levels, factor V' Leiden' gene mutation, and paroxysmal nocturnal hematuria screen.", "output": {"entities": {"gene": [{"text": "SMVT", "start": 83, "end": 87}], "disease": [{"text": "hematuria", "start": 350, "end": 359}]}, "relations": {}}, "schema": []}
{"input": "These results suggest the presence of a defective HTLV-I provirus in some seronegative patients with progressive spastic paraparesis, and suggest a pathogenic role of this truncate provirus for a group of TSP/HAM.", "output": {"entities": {"gene": [{"text": "TSP", "start": 205, "end": 208}], "disease": [{"text": "progressive spastic paraparesis", "start": 101, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We conclude that Laron dwarfism is due to abnormalities in the gene for GH receptor, which may differ from family to family.", "output": {"entities": {"gene": [{"text": "GH receptor", "start": 72, "end": 83}], "disease": [{"text": "Laron dwarfism", "start": 17, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GH receptor", "start": 72, "end": 83}, "tail": {"text": "Laron dwarfism", "start": 17, "end": 31}}]}}, "schema": []}
{"input": "At the time of diagnosis, tumors from the BRCA2 carriers were borderline significantly larger in comparison to the tumors in sporadic cases (P =. 05), but axillary nodal status was not significantly different in the two groups (node-negativity, 63% v 52.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 42, "end": 47}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The transcription coactivator HTIF1 and a related protein are fused to the RET receptor tyrosine kinase in childhood papillary thyroid carcinomas.", "output": {"entities": {"gene": [{"text": "HTIF1", "start": 30, "end": 35}], "disease": [{"text": "papillary thyroid carcinomas", "start": 117, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HTIF1", "start": 30, "end": 35}, "tail": {"text": "papillary thyroid carcinomas", "start": 117, "end": 145}}]}}, "schema": []}
{"input": "These data confirm the effects of rs3813946 on CR2 transcription, identifying the 5' UTR to be a novel regulatory element for the CR2 gene in which variation may alter gene function and modify the development of lupus.", "output": {"entities": {"gene": [{"text": "CR2", "start": 47, "end": 50}], "disease": [{"text": "lupus", "start": 212, "end": 217}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CR2", "start": 47, "end": 50}, "tail": {"text": "lupus", "start": 212, "end": 217}}]}}, "schema": []}
{"input": "Theses results suggest that MRGBP contributes to colorectal carcinogenesis through rendering advantages in cell proliferation and/or division of cancer cells.", "output": {"entities": {"gene": [{"text": "MRGBP", "start": 28, "end": 33}], "disease": [{"text": "carcinogenesis", "start": 60, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies.", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 17, "end": 25}], "disease": [{"text": "sporadic", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The patients with ESCS and GFS and 9 of the 20 unrelated patients with CPRD had mutations in the NR2E3 gene.", "output": {"entities": {"gene": [{"text": "NR2E3", "start": 97, "end": 102}], "disease": [{"text": "ESCS", "start": 18, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NR2E3", "start": 97, "end": 102}, "tail": {"text": "ESCS", "start": 18, "end": 22}}]}}, "schema": []}
{"input": "On the other hand, PRPS1 mutations cause PRPP synthetase superactivity associated with hyperuricemia and gout, sometimes including neurodevelopmental abnormalities.", "output": {"entities": {"gene": [{"text": "PRPS1", "start": 19, "end": 24}], "disease": [{"text": "abnormalities", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We found consistently significant associations of HLA-DP rs3077 and rs9277535 with increased risks of cervical cancer (dominant genetic model: adjusted OR = 1. 51, 95% CI = 1. 32-1. 71 for rs3077; adjusted OR = 1. 29, 95% CI = 1. 12-1. 49 for rs9277535).", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 50, "end": 56}], "disease": [{"text": "cervical cancer", "start": 102, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The synergistic effect of rs7927894 [T] and FLG mutations on eczema risk as well as the association of both variants with eczema-associated atopic asthma and hay fever point to an involvement of rs7927894 [T] in a functional pathway that is linked to the barrier defect.", "output": {"entities": {"gene": [{"text": "FLG", "start": 44, "end": 47}], "disease": [{"text": "hay fever", "start": 158, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Atlastin nucleotide variations were detected by direct sequencing of all 14 exons in 70 autosomal dominant (AD), 16 single sibship and 14 sporadic spastic paraplegia patients.", "output": {"entities": {"gene": [{"text": "Atlastin", "start": 0, "end": 8}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The greatest protective effect against overweight was seen in those with the combined genotype non-UCP2-866GG and non-UCP3-55CC, as compared with those carrying both UCP2-866GG and UCP3-55CC (OR, 0. 60; 95% CI, 0. 38-0. 95; P = 0. 030).", "output": {"entities": {"gene": [{"text": "UCP3", "start": 118, "end": 122}], "disease": [{"text": "overweight", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The CYP27B1 gene, which encodes the 1-α-hidroxylase and involved in the 1, 25-dihydroxyvitamin D synthesis, was recently associated to type-1 diabetes, autoimmune disorders and treatment response in HCV.", "output": {"entities": {"gene": [{"text": "CYP27B1 gene", "start": 4, "end": 16}], "disease": [{"text": "diabetes, autoimmune", "start": 142, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Three previously undescribed DNA viruses were also detected, a parvovirus and two viruses related to TT virus (TTV).", "output": {"entities": {"gene": [{"text": "TTV", "start": 111, "end": 114}], "disease": [{"text": "parvovirus", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "anemia", "start": 279, "end": 285}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "anemia", "start": 279, "end": 285}}]}}, "schema": []}
{"input": "The VGluT1 mRNA/VGAT mRNA ratio was unchanged in schizophrenia, as was the ratio of complexin 2 mRNA to complexin 1 mRNA (related to synaptic vesicle fusion in excitatory and inhibitory terminals, respectively).", "output": {"entities": {"gene": [{"text": "VGluT1", "start": 4, "end": 10}], "disease": [{"text": "schizophrenia", "start": 49, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGluT1", "start": 4, "end": 10}, "tail": {"text": "schizophrenia", "start": 49, "end": 62}}]}}, "schema": []}
{"input": "Somatic deletions seem to constitute the second hit in SDHB-related renal neoplasia, while SDHx alterations do not appear to be primary drivers in sporadic tumorigenesis from tissues affected by SDH deficiency.", "output": {"entities": {"gene": [{"text": "SDHB", "start": 55, "end": 59}], "disease": [{"text": "hit", "start": 48, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10.", "output": {"entities": {"gene": [{"text": "FGF10", "start": 144, "end": 149}], "disease": [{"text": "ALSG", "start": 34, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF10", "start": 144, "end": 149}, "tail": {"text": "ALSG", "start": 34, "end": 38}}]}}, "schema": []}
{"input": "The tissue microarray was informative for IHC staining, in which the MIF expression in gastric cancer tissues was higher than that in adjacent non-cancer normal tissues (P < 0. 001), and high level of MIF was related to poor tumor differentiation, advanced T stage, advanced tumor stage, lymph node metastasis, and poor patient survival (P < 0. 05 for all).", "output": {"entities": {"gene": [{"text": "MIF", "start": 69, "end": 72}], "disease": [{"text": "gastric cancer", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Several sarcoma groups are associated with a tumor-specific translocation involving EWS.", "output": {"entities": {"gene": [{"text": "EWS", "start": 84, "end": 87}], "disease": [{"text": "translocation", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Pak1 in the cytoplasm was an independent prognostic marker, indicating increased recurrence rate (HR, 1. 79; 95% CI, 1. 17-2. 74; P = 0. 0068) and breast cancer mortality (HR, 1. 98; 95% CI, 1. 14-3. 46; P = 0. 016) for patients randomized to no adjuvant treatment.", "output": {"entities": {"gene": [{"text": "Pak1", "start": 0, "end": 4}], "disease": [{"text": "breast cancer", "start": 147, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pak1", "start": 0, "end": 4}, "tail": {"text": "breast cancer", "start": 147, "end": 160}}]}}, "schema": []}
{"input": "In contrast to hMLH1 and hMSH2, little is known about the overall involvement of hMSH6 in colorectal cancer.", "output": {"entities": {"gene": [{"text": "hMSH6", "start": 81, "end": 86}], "disease": [{"text": "colorectal cancer", "start": 90, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMSH6", "start": 81, "end": 86}, "tail": {"text": "colorectal cancer", "start": 90, "end": 107}}]}}, "schema": []}
{"input": "In the younger cohort, body weight, BMI, fat mass and waist circumference were significantly higher in female variant carriers of the IGF-I polymorphism.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 134, "end": 139}], "disease": [{"text": "body weight", "start": 23, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus callosum and that NFIB deficiency leads to neurological defects and to severe lung hypoplasia, whereas Nfic knockout mice exhibit specific tooth defects.", "output": {"entities": {"gene": [{"text": "Nfic", "start": 186, "end": 190}], "disease": [{"text": "hydrocephalus", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Antibodies from patients with heparin-induced thrombocytopenia/thrombosis recognize different epitopes on heparin: platelet factor 4.", "output": {"entities": {"gene": [{"text": "platelet factor 4", "start": 115, "end": 132}], "disease": [{"text": "thrombosis", "start": 63, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "platelet factor 4", "start": 115, "end": 132}, "tail": {"text": "thrombosis", "start": 63, "end": 73}}]}}, "schema": []}
{"input": "The relative mRNA expression levels of pulmonary Wnt11 and RhoA on D21 were significantly increased in the CDH group compared with the control group (p = 0. 016 and p = 0. 008, respectively).", "output": {"entities": {"gene": [{"text": "Wnt11", "start": 49, "end": 54}], "disease": [{"text": "CDH", "start": 107, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Wnt11", "start": 49, "end": 54}, "tail": {"text": "CDH", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "In a transgenic mouse with cardiac specific expression of the Thr400Asn mutation in PRKAG2 (TG (T400N)), we previously reported initial cardiac hypertrophy (ages 2-8 weeks) followed by dilation and failure (ages 12-20 weeks).", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 84, "end": 90}], "disease": [{"text": "cardiac hypertrophy", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Samples from age-matched controls (n = 253), sporadic AD (SAD, n = 256) and familial AD (FAD, n = 140) were screened with DHPLC methodology followed by sequencing.", "output": {"entities": {"gene": [{"text": "FAD", "start": 89, "end": 92}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Correlation of sequencing and biochemical data reveals that using plasma guanidinoacetate (GAA) as a biomarker has 100% specificity for both AGAT and GAMT deficiencies, but AGAT deficiency has decreased sensitivity in this assay.", "output": {"entities": {"gene": [{"text": "AGAT", "start": 141, "end": 145}], "disease": [{"text": "AGAT deficiency", "start": 173, "end": 188}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AGAT", "start": 141, "end": 145}, "tail": {"text": "AGAT deficiency", "start": 173, "end": 188}}]}}, "schema": []}
{"input": "Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1).", "output": {"entities": {"gene": [{"text": "EFNB1", "start": 195, "end": 200}], "disease": [{"text": "cleft lip and palate", "start": 122, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In breast cancer patients, the expression level of lncRNA RP11-445H22. 4 is significantly increased (p < 0. 001).", "output": {"entities": {"gene": [{"text": "RP11-445H22. 4", "start": 58, "end": 72}], "disease": [{"text": "breast cancer", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.", "output": {"entities": {"gene": [{"text": "FMR2", "start": 92, "end": 96}], "disease": [{"text": "chromosome deletion", "start": 56, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic.", "output": {"entities": {"gene": [{"text": "GAMT", "start": 32, "end": 36}], "disease": [{"text": "GAMT-D", "start": 85, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GAMT", "start": 32, "end": 36}, "tail": {"text": "GAMT-D", "start": 85, "end": 91}}]}}, "schema": []}
{"input": "The mean value of the last 6 months' monthly evaluated laboratory values (C-reactive protein, hemoglobin, iron indices, PTH, and albumin) and clinical findings (rHuEPO requirement, cumulative iron supplementation doses, and body weight) were analyzed retrospectively excluding patients with chronic inflammation, hemolytic anemia, or active blood loss such as gastrointestinal bleeding.", "output": {"entities": {"gene": [{"text": "PTH", "start": 120, "end": 123}], "disease": [{"text": "body weight", "start": 224, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "To determine whether genetic variation of ADRB2 influences outcome in septic shock.", "output": {"entities": {"gene": [{"text": "ADRB2", "start": 42, "end": 47}], "disease": [{"text": "septic shock", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Reduction of DP103 expression in invasive breast cancer cells reduced phosphorylation of IKK2, abrogated NF-κB-mediated MMP9 expression, and impeded metastasis in a murine xenograft model.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 105, "end": 110}], "disease": [{"text": "invasive breast cancer", "start": 33, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the HLA-DRB5 * null subjects appear to be at increased risk for developing secondary progressive MS.", "output": {"entities": {"gene": [{"text": "HLA-DRB5", "start": 19, "end": 27}], "disease": [{"text": "secondary", "start": 90, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Although their upregulation turned out to be HIF-1α-dependent, we identified further transcription factors mainly AP-1 components to play also an important role in hypoxia response.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 114, "end": 118}], "disease": [{"text": "hypoxia", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In this study, we showed that progranulin-deficient mice displayed increased depression-and disinhibition-like behavior, as well as deficits in social recognition from a relatively young age.", "output": {"entities": {"gene": [{"text": "progranulin", "start": 30, "end": 41}], "disease": [{"text": "depression", "start": 77, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "progranulin", "start": 30, "end": 41}, "tail": {"text": "depression", "start": 77, "end": 87}}]}}, "schema": []}
{"input": "Taken together, our results show that MFG-E8 is expressed in triple-negative breast cancers as a target gene of the p63 pathway, but may serve a suppressive function in ER (+) and erbB2 (+) breast cancers.", "output": {"entities": {"gene": [{"text": "MFG-E8", "start": 38, "end": 44}], "disease": [{"text": "breast cancers", "start": 77, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MFG-E8", "start": 38, "end": 44}, "tail": {"text": "breast cancers", "start": 77, "end": 91}}]}}, "schema": []}
{"input": "Significant allele frequency differences between schizophrenia cases and controls were observed at 4 tagSNPs located in the genes DRD5, HTR1B1, DBH, and TH1 (P < 0. 005).", "output": {"entities": {"gene": [{"text": "TH1", "start": 153, "end": 156}], "disease": [{"text": "schizophrenia", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "IFN-regulated genes were also found to correlate with the MRSS, and the addition of interferon-inducible 44 (IFI44) and sialoadhesin (Siglec-1) to COMP and TSP-1 in multiple regression analyses significantly improved best-fit models, achieving an R (2) value of 0. 89.", "output": {"entities": {"gene": [{"text": "COMP", "start": 147, "end": 151}], "disease": [{"text": "fit", "start": 222, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "The desmoplastic type showed high expression of podoplanin, prolyl 4-hydroxylase, S100A4, PDGFRα, and PDGFRβ, whereas the sclerotic type exhibited low expression of FAPα, PDGFα, PDGFβ, and NG2.", "output": {"entities": {"gene": [{"text": "NG2", "start": 189, "end": 192}], "disease": [{"text": "desmoplastic", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Left ventricular myocytes from adult dogs were cultured and infected with a replication-deficient adenovirus designed to increase expression of the human form of HSP27.", "output": {"entities": {"gene": [{"text": "HSP27", "start": 162, "end": 167}], "disease": [{"text": "adenovirus", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "This study examined whether evidence of cerebrovascular disease in the form of magnetic resonance imaging (MRI) signal hyperintensities in white matter was associated with depressive symptoms in a high-functioning group of normal elderly volunteers.", "output": {"entities": {"gene": [{"text": "MRI", "start": 107, "end": 110}], "disease": [{"text": "depressive symptoms", "start": 172, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Genotypes for ERLIN1, TRAPPC9, and WNK2 may prove informative for assessment of the genetic risk for intracerebral hemorrhage, and those for ITM2C and MAPKAP1 may be beneficial in assessment of the genetic risk for subarachnoid hemorrhage in Japanese individuals.", "output": {"entities": {"gene": [{"text": "ERLIN1", "start": 14, "end": 20}], "disease": [{"text": "intracerebral hemorrhage", "start": 101, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MCEE", "start": 191, "end": 195}], "disease": [{"text": "cancers", "start": 273, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "We found that loss of DCD expression led to reduced cell proliferation, resistance to apoptosis, and suppressed tumorigenesis in immunodeficient mice.", "output": {"entities": {"gene": [{"text": "DCD", "start": 22, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Thus, our complementary approaches identify CUX1 as a pan-driver of tumorigenesis and uncover a potential strategy for treating CUX1-mutant tumors.", "output": {"entities": {"gene": [{"text": "CUX1", "start": 44, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Magnetic resonance imaging (MRI) showed the characteristic white matter abnormalities of merosin-negative congenital muscular dystrophy.", "output": {"entities": {"gene": [{"text": "MRI", "start": 28, "end": 31}], "disease": [{"text": "merosin-negative congenital muscular dystrophy", "start": 89, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "These tumors contain a characteristic translocation, t (11; 22), that produces a unique fusion protein, EWS/FLI-1.", "output": {"entities": {"gene": [{"text": "EWS", "start": 104, "end": 107}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, IL-6-induced SOCS3 expression is inhibited by rapamycin, and ectopic expression of SOCS3 blocks the ability of rapamycin to enhance insulin sensitivity in the presence of IL-6.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 13, "end": 17}], "disease": [{"text": "insulin sensitivity", "start": 145, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Cysteine-rich protein 61 (Cyr61) selectively binds heparin and insulin-like growth factors and mediates a variety of biological actions, including cell adhesion, differentiation, proliferation, migration, angiogenesis, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 26, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 223, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Altogether, these findings revealed: i) the key role of the small GTPase RhoA in upregulation of Nav1. 5 channel expression and tumor aggressiveness, and ii) the existence of a positive feedback of Nav1. 5 channels on RhoA protein levels.", "output": {"entities": {"gene": [{"text": "Nav1. 5", "start": 198, "end": 205}], "disease": [{"text": "tumor", "start": 128, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Two groups of gain-of-function mutations in sodium channel NaV1. 7, which are expressed in dorsal root ganglion (DRG) neurons, produce two clinically-distinct pain syndromes-inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD).", "output": {"entities": {"gene": [{"text": "DRG", "start": 113, "end": 116}], "disease": [{"text": "pain syndromes", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Thus, the Vanin-1/pantetheinase activity might be a new target for therapeutic intervention in inflammatory bowel disease.", "output": {"entities": {"gene": [{"text": "Vanin-1", "start": 10, "end": 17}], "disease": [{"text": "inflammatory bowel disease", "start": 95, "end": 121}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Vanin-1", "start": 10, "end": 17}, "tail": {"text": "inflammatory bowel disease", "start": 95, "end": 121}}]}}, "schema": []}
{"input": "A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.", "output": {"entities": {"gene": [{"text": "KIAA0196", "start": 20, "end": 28}], "disease": [{"text": "3C syndrome", "start": 85, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIAA0196", "start": 20, "end": 28}, "tail": {"text": "3C syndrome", "start": 85, "end": 96}}]}}, "schema": []}
{"input": "Heparin-binding epidermal growth factor-like growth factor reduces intestinal apoptosis in neonatal rats with necrotizing enterocolitis.", "output": {"entities": {"gene": [{"text": "Heparin-binding epidermal growth factor", "start": 0, "end": 39}], "disease": [{"text": "necrotizing enterocolitis", "start": 110, "end": 135}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Heparin-binding epidermal growth factor", "start": 0, "end": 39}, "tail": {"text": "necrotizing enterocolitis", "start": 110, "end": 135}}]}}, "schema": []}
{"input": "We recently reported that CD40L mediates atherogenesis independently of CD40 and proposed Mac-1 as an alternate receptor.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 26, "end": 31}], "disease": [{"text": "atherogenesis", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We review recent findings regarding the properties of ATF5 and the major roles that this transcription factor plays in development of the nervous system and in survival of neural tumors.", "output": {"entities": {"gene": [{"text": "ATF5", "start": 54, "end": 58}], "disease": [{"text": "nervous system", "start": 138, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In approximately 10% of multiple myelomas, the initiating oncogenic event is translocation of musculoaponeurotic fibrosarcoma oncogene homolog (MAF), a transcriptional activator of key target genes, including cyclinD2.", "output": {"entities": {"gene": [{"text": "MAF", "start": 144, "end": 147}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The current data, based on a large cohort (n = 929) of Chinese patients with gastric cancer, suggested that the presence of SOD2 rs4880 and GSTP1 rs1695 genotypes may contribute to cancer progression as well as tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 124, "end": 128}], "disease": [{"text": "aggressiveness", "start": 217, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "AIM: This study examines whether HGF and its phenotypic correlations with obesity and blood pressure (BP), in healthy individuals, are due to shared genetic or common environmental factors.", "output": {"entities": {"gene": [{"text": "HGF", "start": 33, "end": 36}], "disease": [{"text": "blood pressure", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that BLM suppresses genome instability by aiding FEN1 cleavage of structure-containing flaps.", "output": {"entities": {"gene": [{"text": "FEN1", "start": 69, "end": 73}], "disease": [{"text": "genome instability", "start": 40, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Conversely, gain of FGF23 function by injection of wild-type mice with recombinant FGF23 or by elevated circulating levels of endogenous Fgf23 in Hyp mice increases distal tubular Na (+) uptake and membrane abundance of NCC, leading to volume expansion, hypertension, and heart hypertrophy in a αKlotho and dietary Na (+)-dependent fashion.", "output": {"entities": {"gene": [{"text": "NCC", "start": 220, "end": 223}], "disease": [{"text": "heart hypertrophy", "start": 272, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Heterogeneous SIRT1 expression was commonly observed in classic medulloblastoma.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 14, "end": 19}], "disease": [{"text": "classic medulloblastoma", "start": 56, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Histopathological and immunohistochemical analysis for some features associated with tumour aggressiveness and semi-quantitative RT-PCR for SSTR1-5 and real-time qPCR for SSTR5 were performed.", "output": {"entities": {"gene": [{"text": "SSTR5", "start": 171, "end": 176}], "disease": [{"text": "aggressiveness", "start": 92, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that not only major rearrangements, but also point mutations altering the EYA1 reading frame, can be found in patients with OFC syndrome.", "output": {"entities": {"gene": [{"text": "EYA1", "start": 95, "end": 99}], "disease": [{"text": "OFC syndrome", "start": 145, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EYA1", "start": 95, "end": 99}, "tail": {"text": "OFC syndrome", "start": 145, "end": 157}}]}}, "schema": []}
{"input": "At the edge of both types of ulcers, keratinocytes were p63 +, CD29 +, PCNA + and p53-.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 71, "end": 75}], "disease": [{"text": "ulcers", "start": 29, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Alterations in the CREB, PKA, and cAMP levels in the cerebral cortex and hippocampus were examined up to 7 days after microsphere embolism.", "output": {"entities": {"gene": [{"text": "CREB", "start": 19, "end": 23}], "disease": [{"text": "embolism", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Consistent with these data, clinical analysis indicates that AGR2 expression is related to treatment failure in ERalpha-positive breast cancers treated with tamoxifen.", "output": {"entities": {"gene": [{"text": "AGR2", "start": 61, "end": 65}], "disease": [{"text": "breast cancers", "start": 129, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGR2", "start": 61, "end": 65}, "tail": {"text": "breast cancers", "start": 129, "end": 143}}]}}, "schema": []}
{"input": "Chronic lithium rescued the depression-like behavior in GluD1 KO.", "output": {"entities": {"gene": [{"text": "GluD1", "start": 56, "end": 61}], "disease": [{"text": "depression", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "MIF could be of prognostic value in gastric cancer and might be a potential target for small-molecule therapy.", "output": {"entities": {"gene": [{"text": "MIF", "start": 0, "end": 3}], "disease": [{"text": "gastric cancer", "start": 36, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice.", "output": {"entities": {"gene": [{"text": "Six 1", "start": 49, "end": 54}], "disease": [{"text": "craniofacial abnormalities", "start": 19, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Six 1", "start": 49, "end": 54}, "tail": {"text": "craniofacial abnormalities", "start": 19, "end": 45}}]}}, "schema": []}
{"input": "We report the mechanism of a CD4 (+) T regulatory type 1 (Tr1) induction by CD11c (+) mature dendritic cells (DCs) that phagocytose allogeneic and autologous COX-2-overexpressing glioma.", "output": {"entities": {"gene": [{"text": "Tr1", "start": 58, "end": 61}], "disease": [{"text": "glioma", "start": 179, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "De novo mutations of PRRT2 can cause sporadic benign infantile seizures.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 21, "end": 26}], "disease": [{"text": "sporadic", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The protection correlated well with a robust C. muridarum-specific antibody and a Th1-dominant T cell responses, which significantly reduced the severity but not overall incidence of hydrosalpinx.", "output": {"entities": {"gene": [{"text": "Th1", "start": 82, "end": 85}], "disease": [{"text": "hydrosalpinx", "start": 183, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "We studied the role of genetic instability and associated TGF-beta-receptor-II-gene mutations in a series of 18 sporadic cases by analyzing 5 microsatellite loci (D2S123, D3S1029, D5S409, TP53 and BAT26) and by sequencing a poly-A repeat (nucleotides 709-718) in the TGF-beta-receptor-II gene.", "output": {"entities": {"gene": [{"text": "TP53", "start": 188, "end": 192}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "A key question is the role of leucocyte LOX-1 in pro-atherogenic lipid particle trafficking, accumulation and signalling leading to differentiation into foam cells, necrosis and plaque development.", "output": {"entities": {"gene": [{"text": "LOX-1", "start": 40, "end": 45}], "disease": [{"text": "necrosis", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 92, "end": 97}], "disease": [{"text": "Apert syndrome", "start": 71, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 92, "end": 97}, "tail": {"text": "Apert syndrome", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "The activation of NF-κB was determined in human coronary arterial endothelial cells (HCAECs) because NF-κB modulates the production of many cytokines and the expression of adhesion molecules.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 18, "end": 23}], "disease": [{"text": "adhesion", "start": 172, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In order to test this hypothesis, we investigated the relationship between BDNF Val66Met polymorphism and aggressive behaviour in a population of schizophrenic patients.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 75, "end": 79}], "disease": [{"text": "aggressive behaviour", "start": 106, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "These results would therefore favor epitope-directed, rather than TCR-targeted, approaches to therapy of MOBP-associated pathogenic autoimmunity.", "output": {"entities": {"gene": [{"text": "MOBP", "start": 105, "end": 109}], "disease": [{"text": "autoimmunity", "start": 132, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Nephrogenic systemic fibrosis (NSF) is a generalised fibrotic disorder occurring in certain individuals with renal insufficiency exposed to gadolinium-based contrast agents (GdBCA) for MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 185, "end": 188}], "disease": [{"text": "renal insufficiency", "start": 109, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "SOCS3, but not SOCS2, was also upregulated in a chronic eosinophilic leukemia bearing PCM1-JAK2, highlighting its role as a central signalling target of JAK2 translocation neoplasia.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 0, "end": 5}], "disease": [{"text": "chronic eosinophilic leukemia", "start": 48, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that recruitment of CrkII and activation of Rho signalling are responsible for EphA3-mediated cell rounding, blebbing and de-adhesion, and that ephrin-A5-mediated receptor clustering and EphA3 tyrosine kinase activity are essential for this response.", "output": {"entities": {"gene": [{"text": "CrkII", "start": 40, "end": 45}], "disease": [{"text": "adhesion", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We found several novel, as well as known, GCH1 mutations in Japanese patients with DYT5 dystonia.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 42, "end": 46}], "disease": [{"text": "DYT5 dystonia", "start": 83, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCH1", "start": 42, "end": 46}, "tail": {"text": "DYT5 dystonia", "start": 83, "end": 96}}]}}, "schema": []}
{"input": "Type IIA von Willebrand disease (vWD) results from abnormalities in von Willebrand factor (vWF) characterized by absence of plasma high molecular weight (HMW) vWF multimers.", "output": {"entities": {"gene": [{"text": "HMW", "start": 154, "end": 157}], "disease": [{"text": "abnormalities", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We will cover the preliminary laboratory studies and rationale for a clinical trial, which is based on the treatment of the high rate of respiratory failure in the early-onset patients receiving ERT.", "output": {"entities": {"gene": [{"text": "ERT", "start": 195, "end": 198}], "disease": [{"text": "respiratory failure", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "With the exception of HSPA4L, HSPA12A and HSPB8, members of the HSP family, including HSPH1, HSPBP1, HSPA1A, HSPA1B, HSPA1L, HSPA2, HSPA4, HSPA5, HSPA8, HSPA9, HSPAA1, HSPAB1, HSPA14, HSPB11, HSPA13, HSP90B1 and HSPBAP1, were all overexpressed in tumour tissues (all P < 0. 001).", "output": {"entities": {"gene": [{"text": "HSPA12A", "start": 30, "end": 37}], "disease": [{"text": "tumour", "start": 247, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "In this study, our goal was to investigate whether a common SNP,-866G/A (rs659366), in the uncoupling protein 2 (UCP2) gene could influence weight reduction and body composition under sibutramine therapy in an obese Taiwanese population.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 113, "end": 117}], "disease": [{"text": "weight reduction", "start": 140, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Our data implicate PDK-1 and downstream components of the PDK-1 signaling pathway as promising therapeutic targets for the treatment of breast cancer.", "output": {"entities": {"gene": [{"text": "PDK-1", "start": 19, "end": 24}], "disease": [{"text": "breast cancer", "start": 136, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDK-1", "start": 19, "end": 24}, "tail": {"text": "breast cancer", "start": 136, "end": 149}}]}}, "schema": []}
{"input": "of the Streptococcus dysgalactiae subspecies equisimilis strain RE378, which was isolated from a patient suffering from multiple organ failure due to septicaemia, into both hind footpads of human CD46-expressing transgenic (Tg) mice.", "output": {"entities": {"gene": [{"text": "CD46", "start": 196, "end": 200}], "disease": [{"text": "multiple organ failure", "start": 120, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We report here that B27 transgenic rats raised in a germfree environment do not develop inflammatory intestinal or peripheral joint disease, whereas the skin and genital inflammatory lesions are unaffected by the germfree state.", "output": {"entities": {"gene": [{"text": "B27", "start": 20, "end": 23}], "disease": [{"text": "joint disease", "start": 126, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Seizure-induced increases in p75NTR protein and mRNA were detected in hippocampus, piriform cortex, and entorhinal cortex.", "output": {"entities": {"gene": [{"text": "p75NTR", "start": 29, "end": 35}], "disease": [{"text": "Seizure", "start": 0, "end": 7}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p75NTR", "start": 29, "end": 35}, "tail": {"text": "Seizure", "start": 0, "end": 7}}]}}, "schema": []}
{"input": "This study demonstrates that PAR-1 contributes to the development of skin fibrosis and we suggest that PAR-1 potentiates the fibrotic response mainly by inducing fibroblast proliferation and ECM production.", "output": {"entities": {"gene": [{"text": "ECM", "start": 191, "end": 194}], "disease": [{"text": "fibrosis", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "To determine the cause of the induction of ARF4L gene expression after transient ischemia, we examined the changes in ARF4L mRNA expression in HEK 293 cells under hypoxic conditions compared with HSP70.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 196, "end": 201}], "disease": [{"text": "hypoxic", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "We report that the histone demethylase jumonji domain containing protein 2C (JMJD2C) selectively interacts with HIF-1α, but not HIF-2α, and that HIF-1α mediates recruitment of JMJD2C to the hypoxia response elements of HIF-1 target genes.", "output": {"entities": {"gene": [{"text": "JMJD2C", "start": 77, "end": 83}], "disease": [{"text": "hypoxia", "start": 190, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.", "output": {"entities": {"gene": [{"text": "GNAQ", "start": 94, "end": 98}], "disease": [{"text": "Sturge-Weber syndrome", "start": 4, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAQ", "start": 94, "end": 98}, "tail": {"text": "Sturge-Weber syndrome", "start": 4, "end": 25}}]}}, "schema": []}
{"input": "Response gene to complement 32, a novel hypoxia-regulated angiogenic inhibitor.", "output": {"entities": {"gene": [{"text": "Response gene to complement 32", "start": 0, "end": 30}], "disease": [{"text": "hypoxia", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "p21 protein expression was not different (P = 0. 97) between the fibroadenoma and the adjacent normal mammary tissue samples.", "output": {"entities": {"gene": [{"text": "p21", "start": 0, "end": 3}], "disease": [{"text": "fibroadenoma", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Recently, mutations were found in patients with TRMA in a thiamine transporter gene (SLC19A2).", "output": {"entities": {"gene": [{"text": "SLC19A2", "start": 85, "end": 92}], "disease": [{"text": "TRMA", "start": 48, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC19A2", "start": 85, "end": 92}, "tail": {"text": "TRMA", "start": 48, "end": 52}}]}}, "schema": []}
{"input": "This review will discuss the use of transcriptional profiling of breast cancer in tumors from both human patients and GEM models to improve prognostic measures, examine mechanisms of tumor initiation and progression, identify novel therapeutic targets, and improve pre-clinical testing for drug development.", "output": {"entities": {"gene": [{"text": "GEM", "start": 118, "end": 121}], "disease": [{"text": "tumor initiation", "start": 183, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Thus, the reduced viremia and slow rate of CD4 decline that characterize HIV-2 infection seem to be unrelated to coreceptor availability.", "output": {"entities": {"gene": [{"text": "CD4", "start": 43, "end": 46}], "disease": [{"text": "viremia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Both cardiac systolic and diastolic function and myocardial fibrosis in SHRs was improved significantly by the IL-17RA PLAD.", "output": {"entities": {"gene": [{"text": "IL-17RA", "start": 111, "end": 118}], "disease": [{"text": "myocardial fibrosis", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Mapping and sequence analyses show that alternative transcripts of the hREC2 gene, including novel isoforms identified in testis and uterus, are not interrupted by the translocation.", "output": {"entities": {"gene": [{"text": "hREC2", "start": 71, "end": 76}], "disease": [{"text": "translocation", "start": 168, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Thus, increased sensitization and up-regulation of TRPV1 constitutes a potential mechanism by which TNFalpha mediates inflammatory hyperalgesia and pain.", "output": {"entities": {"gene": [{"text": "TNFalpha", "start": 100, "end": 108}], "disease": [{"text": "hyperalgesia", "start": 131, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFalpha", "start": 100, "end": 108}, "tail": {"text": "hyperalgesia", "start": 131, "end": 143}}]}}, "schema": []}
{"input": "The PP was calculated by subtraction of diastolic blood pressure (DBP) from systolic blood pressure (SBP).", "output": {"entities": {"gene": [{"text": "DBP", "start": 66, "end": 69}], "disease": [{"text": "systolic blood pressure", "start": 76, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Since the protein is a key player in actin dynamics, our data encourages further studies concerning the exact role of Abi1 in actin reorganization upon enhanced KRAS/PI3K signalling during colonic tumorigenesis.", "output": {"entities": {"gene": [{"text": "Abi1", "start": 118, "end": 122}], "disease": [{"text": "tumorigenesis", "start": 197, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "In summary, we present an extremely rare case of familial central diabetes insipidus in monozygotic Brazilian twins with a seemingly common missense mutation in the AVP gene.", "output": {"entities": {"gene": [{"text": "AVP", "start": 165, "end": 168}], "disease": [{"text": "central diabetes insipidus", "start": 58, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AVP", "start": 165, "end": 168}, "tail": {"text": "central diabetes insipidus", "start": 58, "end": 84}}]}}, "schema": []}
{"input": "Several in vitro and in vivo studies have shown that the homo-tetramerization domain of ETO, the nervy homology region 2 (NHR2), is essential for RUNX1/ETO oncogenic activity.", "output": {"entities": {"gene": [{"text": "ETO", "start": 88, "end": 91}], "disease": [{"text": "nervy", "start": 97, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Using linkage analysis in 148 Chinese hypertensive families, we identified a region of linkage with systolic blood pressure (SBP) and diastolic blood pressure (DBP) that consisted of a 10. 6-cM interval defined by markers D8S1145, D8S261, and D8S282 on chromosome 8, which maps between 31 to 41. 6 cM from the 8p-telomere contained LPL gene, with statistically significant p values for the marker D8S261 (p = 0. 0021 for SBP, and p = 0. 0395 for DBP).", "output": {"entities": {"gene": [{"text": "DBP", "start": 160, "end": 163}], "disease": [{"text": "systolic blood pressure", "start": 100, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "While there was no ethnic difference in docetaxel and doxorubicin pharmacokinetics, ethnic difference in docetaxel-(ANOVA, P = 0. 001) and doxorubicin-induced (ANOVA, P = 0. 003) leukocyte suppression was observed, with Chinese and Indians experiencing greater degree of docetaxel-induced myelosuppression than Malays (Bonferroni, P = 0. 002, P = 0. 042), and Chinese experiencing greater degree of doxorubicin-induced myelosuppression than Malays and Indians (post hoc Bonferroni, P = 0. 024 and 0. 025).", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 116, "end": 121}], "disease": [{"text": "myelosuppression", "start": 289, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "Biosynthetic labeling and immunoelectron microscopy reveal a predominant localization of SI in the endoplasmic reticulum (ER) similar to phenotype I of CSID.", "output": {"entities": {"gene": [{"text": "SI", "start": 89, "end": 91}], "disease": [{"text": "CSID", "start": 152, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SI", "start": 89, "end": 91}, "tail": {"text": "CSID", "start": 152, "end": 156}}]}}, "schema": []}
{"input": "Expression of p27 and MAPK proteins involved in all-trans retinoic acid-induced apoptosis and cell cycle arrest in matched primary and metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "p27", "start": 14, "end": 17}], "disease": [{"text": "metastatic melanoma", "start": 135, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Since then, mutations in several other genes have been identified for FTD with parkinsonism, including chromosome 9 open reading frame 72 (C9ORF72), chromatin modifying protein 2B (CHMP2B), valosin-containing protein (VCP), fused in sarcoma (FUS) and transactive DNA-binding protein (TARDBP).", "output": {"entities": {"gene": [{"text": "VCP", "start": 218, "end": 221}], "disease": [{"text": "sarcoma", "start": 233, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Myocardial infarction, caused by ligating the left anterior descending coronary artery, significantly decreased the DNA binding activity of GATA-4 at day 1, whereas at 2 weeks the GATA-4 DNA binding was significantly upregulated.", "output": {"entities": {"gene": [{"text": "GATA-4", "start": 140, "end": 146}], "disease": [{"text": "Myocardial infarction", "start": 0, "end": 21}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GATA-4", "start": 140, "end": 146}, "tail": {"text": "Myocardial infarction", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "Since it is still unclear whether CD40 ligation drives neoplastic B-cells to apoptosis or not, we assessed the mRNA expression of FLICE, FAS, FADD and TRADD-important components of apoptosis machinery, using real-time PCR in acute lymphoblastic leukemia cells before and after CD40 and IL-4 stimulation.", "output": {"entities": {"gene": [{"text": "TRADD", "start": 151, "end": 156}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 225, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "We enrolled a total of 292 patients with chronic HBV infection (111 with chronic hepatitis, 95 with liver cirrhosis and 86 with HCC) and 107 healthy individuals who recovered from HBV infection.", "output": {"entities": {"gene": [{"text": "HCC", "start": 128, "end": 131}], "disease": [{"text": "chronic hepatitis", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These data provide evidence for the importance of both IL-8 and ENA-78 in the development and perpetuation of H. pylori-associated gastritis.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 64, "end": 70}], "disease": [{"text": "gastritis", "start": 131, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that loss of Rb2 expression, mostly by transcriptional down-regulation, may be associated with the development and dedifferentiation of most endometrial and a subset of mammary carcinomas.", "output": {"entities": {"gene": [{"text": "Rb2", "start": 34, "end": 37}], "disease": [{"text": "dedifferentiation", "start": 136, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Significant levels of TNF (578 +/-917 pg/ml versus 24 +/-29 pg/ml) (p = 0. 01), GM-CSF (24 +/-41 pg/ml versus less than 8 pg/ml) (p = 0. 02), and IL-6 (225 +/-327 pg/ml versus 7 +/-12 pg/ml) (p = 0. 01), but not IL-1 alpha or IL-4, were detected in the bronchoalveolar lavage fluid (BALF) of patients with symptomatic compared with BALF of patients with asymptomatic asthma.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 226, "end": 230}], "disease": [{"text": "asymptomatic", "start": 354, "end": 366}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of serum response factor restores ocular dominance plasticity in a model of fetal alcohol spectrum disorders.", "output": {"entities": {"gene": [{"text": "serum response factor", "start": 18, "end": 39}], "disease": [{"text": "fetal alcohol spectrum disorders", "start": 91, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "serum response factor", "start": 18, "end": 39}, "tail": {"text": "fetal alcohol spectrum disorders", "start": 91, "end": 123}}]}}, "schema": []}
{"input": "We found that the six previously characterised translocation partners of ETV1 only accounted for 34% of ETV1 re-arrangements (eight out of 23) in this series, with fusion to the androgen-repressed gene C15orf21 representing the commonest event (four out of 23).", "output": {"entities": {"gene": [{"text": "C15orf21", "start": 202, "end": 210}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "This anti-PCa response was accompanied with a significant decrease in Sirt1 in TRAMP prostate.", "output": {"entities": {"gene": [{"text": "Sirt1", "start": 70, "end": 75}], "disease": [{"text": "PCa", "start": 10, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sirt1", "start": 70, "end": 75}, "tail": {"text": "PCa", "start": 10, "end": 13}}]}}, "schema": []}
{"input": "We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies.", "output": {"entities": {"gene": [{"text": "KIF7", "start": 13, "end": 17}], "disease": [{"text": "ACLS", "start": 36, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF7", "start": 13, "end": 17}, "tail": {"text": "ACLS", "start": 36, "end": 40}}]}}, "schema": []}
{"input": "Finally, despite impaired Rel-A translocation, T cells were capable of transcribing IL-2.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 84, "end": 88}], "disease": [{"text": "translocation", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "For example, in lymph node specimens, the median cyclin D1/GAPDH ratio was 147 (range, 94-160) in MCL, compared with 8. 6 (range, 4-18) in chronic lymphocytic leukemia/small lymphocytic lymphoma; 5. 8 (range, 1. 8-24) in follicular lymphoma; 4. 8 in one case of marginal zone lymphoma; and 20. 2 (range, 5. 8-44) in reactive specimens.", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 59, "end": 64}], "disease": [{"text": "chronic lymphocytic leukemia/small lymphocytic lymphoma", "start": 139, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate the effects of smoking, polymorphisms of XRCC1 codons 194 and 399, and age on levels of basal DNA damage (as measured by an alkaline comet assay) on mononuclear cells in 122 healthy Japanese workers.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 82, "end": 87}], "disease": [{"text": "smoking", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrated that smoking, age and VCM exposure and XRCC1 (P = 0. 03), CYP2E1 (P = 0. 04), and ALDH2 (P = 0. 08) were significantly associated with an increased SCE frequency.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 64, "end": 69}], "disease": [{"text": "smoking", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Tight junctions (TJs) are mainly composed of claudins, occludin, and tight junction adhesion molecules (JAM).", "output": {"entities": {"gene": [{"text": "occludin", "start": 55, "end": 63}], "disease": [{"text": "adhesion", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These results combine with previous data from small deletions to suggest the gene GTF2IRD1 is associated with WS facies and VSC, and that GTF2I may contribute to WS social behaviors including increased gaze and attention to strangers.", "output": {"entities": {"gene": [{"text": "GTF2IRD1", "start": 82, "end": 90}], "disease": [{"text": "facies", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "This supports the role of methylation in BRCA2 contributing to the pathogenesis of sporadic ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 41, "end": 46}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "] ryanodine binding sites (Bmax) and the expression levels of ryanodine receptor (RyR) mRNA and calcium-adenosine triphosphatase (Ca2 +-ATPase) mRNA in atrial myocardial tissue from 13 patients with AF due to mitral valvular disease (MVD) and 9 patients with normal sinus rhythm (NSR).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 130, "end": 133}], "disease": [{"text": "mitral valvular disease", "start": 209, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "The post-stress increase in Nt-pro-BNP is related to myocardial ischemia and to postischemic left-ventricular dysfunction, and accurately predicts the presence or absence of myocardial perfusion defects.", "output": {"entities": {"gene": [{"text": "BNP", "start": 35, "end": 38}], "disease": [{"text": "myocardial ischemia", "start": 53, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BNP", "start": 35, "end": 38}, "tail": {"text": "myocardial ischemia", "start": 53, "end": 72}}]}}, "schema": []}
{"input": "An initially identified missense mutation was found to be extremely rare in other patient cohorts; however, a recent report again argued for an association of two intronic MLC1 single nucleotide polymorphisms (SNPs) with schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "MLC1", "start": 172, "end": 176}], "disease": [{"text": "bipolar disorder", "start": 239, "end": 255}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLC1", "start": 172, "end": 176}, "tail": {"text": "bipolar disorder", "start": 239, "end": 255}}]}}, "schema": []}
{"input": "Application of our improved PRINS protocol facilitated fine-mapping the translocation breakpoints within 4q35. 1 and 22q11. 2, and permitted rapid cloning and analysis of translocation junction fragments.", "output": {"entities": {"gene": [{"text": "PRINS", "start": 28, "end": 33}], "disease": [{"text": "translocation", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.", "output": {"entities": {"gene": [{"text": "glutaryl-coenzyme A dehydrogenase", "start": 32, "end": 65}], "disease": [{"text": "glutaric acidemia type I", "start": 151, "end": 175}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glutaryl-coenzyme A dehydrogenase", "start": 32, "end": 65}, "tail": {"text": "glutaric acidemia type I", "start": 151, "end": 175}}]}}, "schema": []}
{"input": "In humans, we identified recessive loss-of-function DYX1C1 mutations in 12 individuals with PCD.", "output": {"entities": {"gene": [{"text": "DYX1C1", "start": 52, "end": 58}], "disease": [{"text": "PCD", "start": 92, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DYX1C1", "start": 52, "end": 58}, "tail": {"text": "PCD", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "To investigate the effects of electroacupuncture (EA) on the oestradiol level, bone mineral density and osteoprotegerin ligand (OPGL) expression, and to explore whether EA might be a complementary method to prevent and treat osteoporosis.", "output": {"entities": {"gene": [{"text": "OPGL", "start": 128, "end": 132}], "disease": [{"text": "bone mineral density", "start": 79, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "CDH13", "start": 110, "end": 115}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH13", "start": 110, "end": 115}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "IL-4 operates through the IL-4 receptor (IL-4R, a heterodimer of IL-4Ralpha and either gammac or IL-13Ralpha1) and IL-13 operates through IL-13R (a heterodimer of IL-4Ralpha and IL-13Ralpha1) to promote IgE synthesis and IgE-based mucosal inflammation which typify atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 97, "end": 102}], "disease": [{"text": "atopy", "start": 265, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Glucocorticoid-inducible genes GILZ and SGK-1 might be promising candidate markers for hippocampal volume changes relevant for diseases like MDD.", "output": {"entities": {"gene": [{"text": "SGK-1", "start": 40, "end": 45}], "disease": [{"text": "MDD", "start": 141, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SGK-1", "start": 40, "end": 45}, "tail": {"text": "MDD", "start": 141, "end": 144}}]}}, "schema": []}
{"input": "Myeloid Tgfbr2 deficiency markedly decreased the production of interleukin-6 and tumor necrosis factor-α, two proinflammatory cytokines that are essential for colonic tumorigenesis; in addition, a marked increase in the proportions of Foxp3 + CD4 + regulatory T cells was observed in the colonic lamina propria in the initial stage of CAC.", "output": {"entities": {"gene": [{"text": "Tgfbr2", "start": 8, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 167, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The array-derived candidates including fibrinogen gamma peptide (FGG, at 4q31. 3), vitamin D binding protein (at 4q13. 3), fibrinogen-like 1 (FGL1, at 8p22), metallothionein 1G (MT1G, at 16q12. 2) and alpha-2-plasmin inhibitor (SERPINF2, at 17p13) were confirmed by quantitative reverse transcription-polymerase chain reaction, which also indicated a more profound downregulation of FGL1, MT1G and SERPINF2 relative to reported tumor-suppressor genes, such as DLC1 (8p22), E-cadherin (16q22. 1) and TP53 (17p13. 1).", "output": {"entities": {"gene": [{"text": "FGL1", "start": 142, "end": 146}], "disease": [{"text": "fibrinogen", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that MELK depletion by shRNA diminishes the growth of GSC-derived mouse intracranial tumors in vivo, induces glial fibrillary acidic protein (+) glial differentiation of GSCs leading to decreased malignancy of the resulting tumors, and prolongs survival periods of tumor-bearing mice.", "output": {"entities": {"gene": [{"text": "GSC", "start": 75, "end": 78}], "disease": [{"text": "intracranial tumors", "start": 93, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The UCP2/UCP3 genetic locus may play a role in childhood body weight.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 4, "end": 8}], "disease": [{"text": "body weight", "start": 57, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Murine CASK is disrupted in a sex-linked cleft palate mouse mutant.", "output": {"entities": {"gene": [{"text": "CASK", "start": 7, "end": 11}], "disease": [{"text": "cleft palate", "start": 41, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASK", "start": 7, "end": 11}, "tail": {"text": "cleft palate", "start": 41, "end": 53}}]}}, "schema": []}
{"input": "Pheochromocytomas (PCCs)/paragangliomas (PGLs) are neuroendocrine tumours that may cause arrhythmia and death if untreated.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 41, "end": 45}], "disease": [{"text": "arrhythmia", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Basal cell carcinomas in mice overexpressing Gli2 in skin.", "output": {"entities": {"gene": [{"text": "Gli2", "start": 45, "end": 49}], "disease": [{"text": "Basal cell carcinomas", "start": 0, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gli2", "start": 45, "end": 49}, "tail": {"text": "Basal cell carcinomas", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "We investigated the relevance of the mammalian target of rapamycin (mTOR)/AKT and hypoxic pathways as novel immunohistochemical markers of malignancy.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 37, "end": 66}], "disease": [{"text": "hypoxic", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN (T) deletion.", "output": {"entities": {"gene": [{"text": "AMC", "start": 14, "end": 17}], "disease": [{"text": "congenital heart disease", "start": 21, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction.", "output": {"entities": {"gene": [{"text": "ITPA", "start": 16, "end": 20}], "disease": [{"text": "hemolytic anemia", "start": 60, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ITPA", "start": 16, "end": 20}, "tail": {"text": "hemolytic anemia", "start": 60, "end": 76}}]}}, "schema": []}
{"input": "It protects against inflammation and oxidative stress by inducing IRAK3.", "output": {"entities": {"gene": [{"text": "IRAK3", "start": 66, "end": 71}], "disease": [{"text": "inflammation", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Combined use of in situ hybridization and unlabeled antibody peroxidase anti-peroxidase methods: simultaneous detection of type I procollagen mRNAs and factor VIII-related antigen epitopes in keloid tissue.", "output": {"entities": {"gene": [{"text": "type I procollagen", "start": 123, "end": 141}], "disease": [{"text": "keloid", "start": 192, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Our results was a previous study, which suggested that DNMT1 gene polymorphisms in exons may provide valuable information for predicting the sporadic IDC risk and may be associated with prognosis factors such as PgR and p53 status in Chinese Han women in the Heilongjiang Province.", "output": {"entities": {"gene": [{"text": "p53", "start": 220, "end": 223}], "disease": [{"text": "sporadic", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of cyclin D1 proteolysis has been implicated as a causative factor leading to its overexpression in breast and esophageal carcinomas; however, the contribution of stable cyclin D1 to the genesis of such carcinomas has not been evaluated.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 14, "end": 23}], "disease": [{"text": "esophageal", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Recurrent alterations at relapse included mutations in the putative CHD5 neuroblastoma tumor suppressor, chromosome 9p losses, DOCK8 mutations, inactivating mutations in PTPN14 and a relapse-specific activity pattern for the PTPN14 target YAP.", "output": {"entities": {"gene": [{"text": "DOCK8", "start": 127, "end": 132}], "disease": [{"text": "neuroblastoma", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DOCK8", "start": 127, "end": 132}, "tail": {"text": "neuroblastoma", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Second, chromosome 17p deletions and p53 gene mutations are found frequently in sporadic gliomas of all malignancy stages.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 37, "end": 45}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersburg revealed nine mutations in the HMBS gene.", "output": {"entities": {"gene": [{"text": "HMBS", "start": 208, "end": 212}], "disease": [{"text": "AIP", "start": 65, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HMBS", "start": 208, "end": 212}, "tail": {"text": "AIP", "start": 65, "end": 68}}]}}, "schema": []}
{"input": "Our knowledge primarily comes from studies of the impact on pregnancy outcome of HLA class II alleles known to restrict CD4 T cell mediated anti-HY responses among 358 secondary recurrent miscarriage (SRM) patients and 203 of their children born prior to the miscarriages and investigation of these HLA alleles in 8 patients with recurrent severe placental abruptions.", "output": {"entities": {"gene": [{"text": "SRM", "start": 201, "end": 204}], "disease": [{"text": "recurrent miscarriage", "start": 178, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate a novel role for miR-21 in regulating astrocytic hypertrophy and glial scar progression after SCI, and suggest miR-21 as a potential therapeutic target for manipulating gliosis and enhancing functional outcome.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 44, "end": 50}], "disease": [{"text": "gliosis", "start": 196, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Surface expression of very late antigen-4 [VLA-4] and LFA-1 was decreased and the production of the type 2 cytokines IL-5 and IL-13 was augmented by the presence of IL-4 during stimulation of CD8 + T cells from mild atopic asthmatics.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 165, "end": 169}], "disease": [{"text": "mild", "start": 211, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "The ACT TT genotype was over-represented (P = 0. 025) in patients with early onset of sporadic AD.", "output": {"entities": {"gene": [{"text": "ACT", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In this study, to address this question, serial sections of 11 glioblastomas and 10 anaplastic astrocytomas were immunostained for HIF-1α, glucose transporter (GLUT)-1, carbonic anhydrase (CA) IX (i. e., hypoxia-related markers), Ki67 (proliferation), phosphorylated ribosomal protein S6 [p-rpS6; mammalian target of rapamycin (mTOR) activity] and CD34 (microvascular endothelium).", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 297, "end": 326}], "disease": [{"text": "hypoxia", "start": 204, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases.", "output": {"entities": {"gene": [{"text": "autoimmune regulator", "start": 118, "end": 138}], "disease": [{"text": "APECED", "start": 64, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "autoimmune regulator", "start": 118, "end": 138}, "tail": {"text": "APECED", "start": 64, "end": 70}}]}}, "schema": []}
{"input": "In familial amyloidotic polyneuropathy (FAP), a neurodegenerative disorder characterized by extracellular deposition of mutated transthyretin (TTR), activation of heat shock factor 1-HSF1-by extracellular TTR deposition has been shown as well as induction of the expression of heat shock proteins, HSP27 and HSP70.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 183, "end": 187}], "disease": [{"text": "polyneuropathy", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "In addition, using CESH, it was possible to identify an ERBB2 expression signature, comprising four chromosomal regions with potential significance in the aggressive behaviour of ERBB2-positive IDC-NOS.", "output": {"entities": {"gene": [{"text": "ERBB2", "start": 56, "end": 61}], "disease": [{"text": "aggressive behaviour", "start": 155, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Moreover, a 3-wk infusion of GM-CSF in mice increased hypoxia-induced PAH, in association with increased perivascular macrophages and muscularized distal arteries, whereas blockade of GM-CSF repressed these features.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 29, "end": 35}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Impaired SOD2 activity in murine hematopoietic cells affects erythroid development, resulting in anemia characterized by intra-mitochondrial iron deposition, reticulocytosis and shortened red cell life span.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 9, "end": 13}], "disease": [{"text": "anemia", "start": 97, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOD2", "start": 9, "end": 13}, "tail": {"text": "anemia", "start": 97, "end": 103}}]}}, "schema": []}
{"input": "Cutting edge: retrobulbar inflammation, adipogenesis, and acute orbital congestion in a preclinical female mouse model of Graves' orbitopathy induced by thyrotropin receptor plasmid-in vivo electroporation.", "output": {"entities": {"gene": [{"text": "thyrotropin receptor", "start": 153, "end": 173}], "disease": [{"text": "inflammation", "start": 26, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Clopidogrel pharmacokinetics and pharmacodynamics vary widely despite exclusion or control of polymorphisms (CYP2C19, ABCB1, PON1), noncompliance, diet, smoking, co-medications (including proton pump inhibitors), and pre-existent variability in platelet function.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 118, "end": 123}], "disease": [{"text": "smoking", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In atopic asthma, the frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was significantly lower than that in the mild group.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 53, "end": 57}], "disease": [{"text": "mild", "start": 131, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Serum levels of BAFF and IgA1 as well as levels of TLR9 mRNA and protein in PMBCs were significantly higher in patients with IgAN compared with patients with minimal glomerular abnormalities (P < 0. 05, P < 0. 01, P < 0. 01 and P < 0. 01, respectively) and normal controls (P < 0. 01, P < 0. 01, P < 0. 05 and P < 0. 01, respectively).", "output": {"entities": {"gene": [{"text": "BAFF", "start": 16, "end": 20}], "disease": [{"text": "abnormalities", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the effects of pitavastatin on load-induced cardiac hypertrophy and fibrosis are independent of its cholesterol-lowering action and may be mediated, at least in part, through inhibition of RhoA-ERK-SRF signalling.", "output": {"entities": {"gene": [{"text": "SRF", "start": 226, "end": 229}], "disease": [{"text": "cardiac hypertrophy", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "To further study the roles of partial AZFc deletions in spermatogenic impairment and the relationship between complete and partial AZFc deletions, these deletions were typed and quantitative analysis of DAZ gene copies and Y chromosome haplogrouping were performed for seven pedigrees of complete AZFc deletion carriers, comprising 296 infertile and 280 healthy Chinese men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 203, "end": 206}], "disease": [{"text": "infertile", "start": 336, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that more than half of the genes induced by cagPAI-positive H pylori depend on NF-kappaB and ERK signaling activation, and these pathways may play a role in the gene expression induced by host-bacterial interaction which may associate with H pylori-related gastro-duodenal diseases.", "output": {"entities": {"gene": [{"text": "ERK", "start": 115, "end": 118}], "disease": [{"text": "duodenal diseases", "start": 286, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "One of the genetic factors is the-323Ins10 polymorphism in the promoter region of the factor VII gene, which is strongly related to FVII: C, and thus may be associated with ischaemic heart disease.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 86, "end": 96}], "disease": [{"text": "ischaemic heart disease", "start": 173, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Neither pathogen burden nor IL6 genotype did contribute to the variation of plasma IL-6 levels, whereas smoking, body-mass index, hypertension, case-control status, and age were determinants of the plasma IL-6 concentration.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 83, "end": 87}], "disease": [{"text": "smoking", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Response rate was significantly higher in women, non-smokers, in mutation carriers than in wild type carriers, in EGFR-trisomy/polysomy carriers and HER2-trisomy/polysomy carriers.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 114, "end": 118}], "disease": [{"text": "trisomy", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Interchromosomal insertional translocation at Xq26. 3 alters SOX3 expression in an individual with XX male sex reversal.", "output": {"entities": {"gene": [{"text": "SOX3", "start": 61, "end": 65}], "disease": [{"text": "sex reversal", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in serous carcinoma samples taken from ovarian cancer patients who responded well to chemotherapy, strong ALK7 staining and low miR-376c expression was detected.", "output": {"entities": {"gene": [{"text": "ALK7", "start": 116, "end": 120}], "disease": [{"text": "serous carcinoma", "start": 13, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "CYP1A1 mRNA expression level was significantly higher in residents with sinus tachycardia or bradycardia than in residents with normal heart rate (1. 47 & #215; 10 (-3) (0. 87 & #215; 10 (-3), 2. 77 & #215; 10 (-3)) vs. 1. 24 & #215; 10 (-3) (0. 64 & #215; 10 (-3), 2. 31 & #215; 10 (-3)), P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 0, "end": 6}], "disease": [{"text": "bradycardia", "start": 93, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A1", "start": 0, "end": 6}, "tail": {"text": "bradycardia", "start": 93, "end": 104}}]}}, "schema": []}
{"input": "The Q576R polymorphism did not affect proximal signal transducer and activator of transcription (STAT) 6 activation, but synergized with STAT6 in a gene target-and tissue-specific manner to mediate heightened expression of a subset of IL-4-and IL-13-responsive genes involved in allergic inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 235, "end": 239}], "disease": [{"text": "inflammation", "start": 288, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "These preclinical results define glucocorticoid signaling as a contributing factor to both episodic memory loss and early synaptic failure in this AD mouse model, and suggest that glucocorticoid receptor targeting strategies could be beneficial to delay AD onset.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 180, "end": 203}], "disease": [{"text": "memory loss", "start": 100, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This article reviews the SDHC mutations described to date and discusses possible mechanisms of tumorigenesis.", "output": {"entities": {"gene": [{"text": "SDHC", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In contrast, neither unconjugated B43 monoclonal antibody nor the anti-T-cell immunotoxin G17. 2 (anti-CD4)-PAP decreased the incidence of paraplegia or improved EFS.", "output": {"entities": {"gene": [{"text": "G17", "start": 90, "end": 93}], "disease": [{"text": "paraplegia", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the expression of HOXB8 in gastric cancer tissues and influence of HOXB8 on gastric cancer cellular were evaluated.", "output": {"entities": {"gene": [{"text": "HOXB8", "start": 40, "end": 45}], "disease": [{"text": "gastric cancer", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.", "output": {"entities": {"gene": [{"text": "RIPK4", "start": 26, "end": 31}], "disease": [{"text": "Bartsocas-Papas syndrome", "start": 39, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIPK4", "start": 26, "end": 31}, "tail": {"text": "Bartsocas-Papas syndrome", "start": 39, "end": 63}}]}}, "schema": []}
{"input": "The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "HYOU1", "start": 105, "end": 110}], "disease": [{"text": "SCA17", "start": 179, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HYOU1", "start": 105, "end": 110}, "tail": {"text": "SCA17", "start": 179, "end": 184}}]}}, "schema": []}
{"input": "Gene therapy of RA targets mainly the players of inflammation or articular destruction: TNF-alpha or IL-1 blocking agents (such as anti-TNF-alpha monoclonal antibodies, soluble TNF-alpha receptor, type II soluble receptor of IL-1, IL-1 receptor antagonist), anti-inflammatory cytokines (such as IL-4, IL-10, IL-1), growth factors.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 295, "end": 299}], "disease": [{"text": "inflammation", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered.", "output": {"entities": {"gene": [{"text": "DBS", "start": 82, "end": 85}], "disease": [{"text": "globus", "start": 102, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, trisomy for Aml1/Runx1 is not required for megakaryocyte hyperplasia and myelofibrosis, suggesting that trisomy for one or more of the remaining genes can promote this disease.", "output": {"entities": {"gene": [{"text": "Runx1", "start": 31, "end": 36}], "disease": [{"text": "hyperplasia", "start": 71, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Here, we report six cases of inherited TBRS caused by novel DNMT3A germline mutations.", "output": {"entities": {"gene": [{"text": "DNMT3A", "start": 60, "end": 66}], "disease": [{"text": "TBRS", "start": 39, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNMT3A", "start": 60, "end": 66}, "tail": {"text": "TBRS", "start": 39, "end": 43}}]}}, "schema": []}
{"input": "Only a Thr341--> Lys substitution, residing in a region of gp91-phox involved in flavin adenine dinucleotide (FAD) binding, supported a normal translocation.", "output": {"entities": {"gene": [{"text": "gp91-phox", "start": 59, "end": 68}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Enzyme replacement therapy (ERT) for Gaucher disease is safe and effectively corrects hepatosplenomegaly and hypersplenism; however, thrombocytopenia, may not normalize.", "output": {"entities": {"gene": [{"text": "ERT", "start": 28, "end": 31}], "disease": [{"text": "hepatosplenomegaly", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Overproduction of IL-1β by Caspase 1 is the main cause of episodic fever and inflammatory findings in FMF and CAPS.", "output": {"entities": {"gene": [{"text": "Caspase 1", "start": 27, "end": 36}], "disease": [{"text": "episodic fever", "start": 58, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "In addition, the role of STAT3 activation in NOX1-dependent epithelial cell death was confirmed by using a lung epithelial cell line and in mice exposed to hyperoxia.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 25, "end": 30}], "disease": [{"text": "hyperoxia", "start": 156, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, TP53 and NF2 gene mutations do not play an important role in the etiology of sporadic pediatric ependymomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 22, "end": 30}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Similar studies with somatic cell mutants deficient in some component of cyclic AMP action or metabolism indicated that the depression in purine synthetic rates required G1 arrest and did not result from cell death.", "output": {"entities": {"gene": [{"text": "AMP", "start": 80, "end": 83}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 80, "end": 83}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "We evaluated MYC, FBXW7, and TP53 copy number, mRNA levels, and protein expression in gastric cancer and paired non-neoplastic specimens from 33 patients and also in gastric adenocarcinoma cell lines.", "output": {"entities": {"gene": [{"text": "MYC", "start": 13, "end": 16}], "disease": [{"text": "non-neoplastic", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In order to test whether increased NHE1 is causally related to beta (1)-adrenergic-induced hypertrophy, fibrosis, and heart failure, beta (1)-adrenergic receptor transgenic (TG) and wild-type (WT) littermates were treated with a diet containing 6000 ppm of the NHE1 inhibitor cariporide or control chow for 8 months.", "output": {"entities": {"gene": [{"text": "NHE1", "start": 35, "end": 39}], "disease": [{"text": "fibrosis", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "To screen for a mutation of the cardiac troponin T gene in two families where there had been sudden deaths without an increase in left ventricular mass but with myocardial disarray suggesting hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "T gene", "start": 49, "end": 55}], "disease": [{"text": "left ventricular mass", "start": 130, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 93, "end": 97}], "disease": [{"text": "CD", "start": 55, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 93, "end": 97}, "tail": {"text": "CD", "start": 55, "end": 57}}]}}, "schema": []}
{"input": "In this study, in situ hybridization techniques were used to determine the location of interstitial collagenase and tissue inhibitor of metalloproteinase (TIMP) gene expression in samples from 11 squamous cell carcinomas of the head and neck (particularly the oral cavity) and from non-neoplastic mucosa of the same region.", "output": {"entities": {"gene": [{"text": "interstitial collagenase", "start": 87, "end": 111}], "disease": [{"text": "non-neoplastic", "start": 282, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "We hereby report a case of isolated COX deficiency manifesting with encephalomyopathy, hydrocephalus and hypertropic cardiomyopathy due to a missense p. R20C mutation in the COX6B1 gene, which encodes an integral, nuclear-encoded COX subunit.", "output": {"entities": {"gene": [{"text": "COX6B1", "start": 174, "end": 180}], "disease": [{"text": "COX deficiency", "start": 36, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COX6B1", "start": 174, "end": 180}, "tail": {"text": "COX deficiency", "start": 36, "end": 50}}]}}, "schema": []}
{"input": "SNP in exon 10 (codon 307 and 680) and in the core promoter region (at position-29) of the FSHR gene were analysed by polymerase chain reaction-restriction fragment length polymorphism technique in 150 men representative of the general population, 107 proven fathers, 92 normozoospermic controls, and 215 infertile patients classified according to sperm parameters (38 azoospermia, 53 severe oligozoospermia, 48 moderate oligozoospermia, and 76 slight oligozoospermia).", "output": {"entities": {"gene": [{"text": "FSHR gene", "start": 91, "end": 100}], "disease": [{"text": "infertile", "start": 305, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families.", "output": {"entities": {"gene": [{"text": "SCA19", "start": 30, "end": 35}], "disease": [{"text": "Spinocerebellar ataxia 19", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCA19", "start": 30, "end": 35}, "tail": {"text": "Spinocerebellar ataxia 19", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "Myeloid TGF-β receptor II (Tgfbr2)-deficient mice showed reduced susceptibility to chemically induced colitis-associated tumorigenesis, as evidenced by decreases in number and size of tumors.", "output": {"entities": {"gene": [{"text": "Tgfbr2", "start": 27, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We examined 10 surgically obtained sacral chordoma tissue samples to determine the expressions of NGF and TrkA and p75 receptors as well as markers of cellular proliferation and apoptosis.", "output": {"entities": {"gene": [{"text": "NGF", "start": 98, "end": 101}], "disease": [{"text": "sacral chordoma", "start": 35, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "This study investigated 103 cases of HCC (86 cases of HCC-C and 17 cases HCC-NC including tumorous and nontumorous tissues) together with 10 cases of chronic hepatitis and 10 cases of pure cirrhosis as control groups.", "output": {"entities": {"gene": [{"text": "HCC", "start": 37, "end": 40}], "disease": [{"text": "chronic hepatitis", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "We examined the DNA methylation status of 12 tumor-related genes (NF2, RB1, p14 (ARF), p16 (INK4a), p73, TIMP-3, MGMT, DAPK, THBS1, caspase-8, TP53, and GSTP1) in 44 sporadic and/or NF2-associated schwannomas using methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "TP53", "start": 143, "end": 147}], "disease": [{"text": "sporadic", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we found a marginal association between the NFKB1-94 ins/delATTG WW genotype and the increased psoriasis vulgaris risk and the association was more evident in the subgroups of onset age < or = 40, PASI > 20, male patients and sporadic patients in Chinese.", "output": {"entities": {"gene": [{"text": "NFKB1", "start": 59, "end": 64}], "disease": [{"text": "sporadic", "start": 241, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "Plasmin converted from plasminogen by plasminogen activators plays an essential role in amplification of psoriasiform skin inflammation in mice, and targeting plasmin receptor--annexin II--may harbor therapeutic potential for the treatment of human psoriasis.", "output": {"entities": {"gene": [{"text": "annexin II", "start": 177, "end": 187}], "disease": [{"text": "skin inflammation", "start": 118, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "However, no genomic DNA fragment aberration of either MSH2 or MLH1 gene was uncovered from 20 sporadic CRC.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 54, "end": 58}], "disease": [{"text": "sporadic", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Mutations in several genes that may represent low-frequency driver mutations were identified, including a protection of telomeres 1 (POT1) mutation that resulted in exon skipping and disruption to the single-stranded DNA-binding domain, which may contribute to increased genomic instability and the observed high mutation rate in one tumor.", "output": {"entities": {"gene": [{"text": "POT1", "start": 133, "end": 137}], "disease": [{"text": "genomic instability", "start": 271, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "When we looked for those genes progressively modulated through the evolving stages of monoclonal gammopathies, eight snoRNA showed a progressive increase while APAF1, VCAN and MEGF9 exhibited a progressive downregulation.", "output": {"entities": {"gene": [{"text": "MEGF9", "start": 176, "end": 181}], "disease": [{"text": "monoclonal gammopathies", "start": 86, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Pin1 is a prolyl-peptidyl cis/trans isomerase that can regulate the dephosphorylation of the amyloid and tau proteins.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 0, "end": 4}], "disease": [{"text": "amyloid", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA).", "output": {"entities": {"gene": [{"text": "COX", "start": 143, "end": 146}], "disease": [{"text": "chronic progressive external ophthalmoplegia", "start": 64, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, Lxn inhibited the nuclear translocation of Rps3 upon radiation, resulting in abnormal mitotic spindle formation and chromosome instability.", "output": {"entities": {"gene": [{"text": "Lxn", "start": 17, "end": 20}], "disease": [{"text": "chromosome instability", "start": 133, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lxn", "start": 17, "end": 20}, "tail": {"text": "chromosome instability", "start": 133, "end": 155}}]}}, "schema": []}
{"input": "We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome.", "output": {"entities": {"gene": [{"text": "MYCN", "start": 53, "end": 57}], "disease": [{"text": "Feingold syndrome", "start": 73, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYCN", "start": 53, "end": 57}, "tail": {"text": "Feingold syndrome", "start": 73, "end": 90}}]}}, "schema": []}
{"input": "Hypermethylation of the hMLH1 gene promoter, polymorphisms of the GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2 and L-myc genes, microsatellite instability and mutations of p53 and Ki-ras genes were investigated.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 73, "end": 78}], "disease": [{"text": "microsatellite instability", "start": 119, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The present study examined the potential association of IL-6-174 G/C polymorphism, together with obesity and smoking, with the presence of CVD in RA patients.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 56, "end": 60}], "disease": [{"text": "smoking", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We examined dysbindin-1 mRNA in the hippocampal formation of patients with schizophrenia and found reduced expression in dentate granule and polymorph cells and in hippocampal field CA3, but not in CA1.", "output": {"entities": {"gene": [{"text": "CA3", "start": 182, "end": 185}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the effect of increased expression of glial cell line-derived neurotrophic factor (GDNF) in three models of oxidative damage-induced retinal degeneration.", "output": {"entities": {"gene": [{"text": "glial cell line-derived neurotrophic factor", "start": 69, "end": 112}], "disease": [{"text": "retinal degeneration", "start": 164, "end": 184}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "glial cell line-derived neurotrophic factor", "start": 69, "end": 112}, "tail": {"text": "retinal degeneration", "start": 164, "end": 184}}]}}, "schema": []}
{"input": "To elucidate the mechanisms of variations to MTX outcome, we investigated MTHFR, DHFR, TYMS, and SLC19A1 gene expression profiles by quantifying the mRNA level of the genes involved in folate metabolism to MTX response in laryngeal cancer cell line (HEP-2).", "output": {"entities": {"gene": [{"text": "DHFR", "start": 81, "end": 85}], "disease": [{"text": "laryngeal cancer", "start": 222, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis.", "output": {"entities": {"gene": [{"text": "Nerve growth factor", "start": 0, "end": 19}], "disease": [{"text": "itch", "start": 27, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Six ameloblastomas (five follicular ameloblastomas and one plexiform ameloblastoma) and three malignant odontogenic tumors (one metastasizing ameloblastoma, one ameloblastic carcinoma, and one primary intraosseous odontogenic carcinoma) were investigated for CTNNB1 expression and CTNNB1 mutation.", "output": {"entities": {"gene": [{"text": "CTNNB1", "start": 259, "end": 265}], "disease": [{"text": "ameloblastic carcinoma", "start": 161, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Four single nucleotide polymorphisms in the central serotonin system and the renin-angiotensin system related genes previously found to be associated with suicide, alcohol dependence or depression were genotyped.", "output": {"entities": {"gene": [{"text": "renin", "start": 77, "end": 82}], "disease": [{"text": "alcohol dependence", "start": 164, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 77, "end": 82}, "tail": {"text": "alcohol dependence", "start": 164, "end": 182}}]}}, "schema": []}
{"input": "Moreover, treatment with the CTSB siRNA exerted an inhibitory effect on migration in OC2 and CAL27 oral cancer cells.", "output": {"entities": {"gene": [{"text": "OC2", "start": 85, "end": 88}], "disease": [{"text": "oral cancer", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.", "output": {"entities": {"gene": [{"text": "SPG20", "start": 38, "end": 43}], "disease": [{"text": "Troyer Syndrome", "start": 60, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG20", "start": 38, "end": 43}, "tail": {"text": "Troyer Syndrome", "start": 60, "end": 75}}]}}, "schema": []}
{"input": "Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.", "output": {"entities": {"gene": [{"text": "DLC-1", "start": 131, "end": 136}], "disease": [{"text": "OCa", "start": 167, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DLC-1", "start": 131, "end": 136}, "tail": {"text": "OCa", "start": 167, "end": 170}}]}}, "schema": []}
{"input": "Low MBL-associated serine protease 2 (MASP-2) levels correlate with urogenital schistosomiasis in Nigerian children.", "output": {"entities": {"gene": [{"text": "serine protease 2", "start": 19, "end": 36}], "disease": [{"text": "urogenital schistosomiasis", "start": 68, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "To analyze the effects of the mutations in the beta3-adrenoceptor (beta3-AR) gene and/or uncoupling protein3 (UCP3) gene promoter on body fat distribution and glycemic control after mild weight reduction in overweight-obese subjects with coronary artery disease (CAD) or metabolic syndrome.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 110, "end": 114}], "disease": [{"text": "overweight", "start": 207, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Lysyl oxidase is associated with the epithelial-mesenchymal transition of gastric cancer cells in hypoxia.", "output": {"entities": {"gene": [{"text": "Lysyl oxidase", "start": 0, "end": 13}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "FRNK negatively regulates IL-4-mediated inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 26, "end": 30}], "disease": [{"text": "inflammation", "start": 40, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Vehicle and untreated NTN exhibited heavy proteinuria and glomerular thrombosis at 24 h with P-selectin and fibrin immunostaining within capillaries, glomerular macrophage and T cell infiltration, activation of JNK and p38 MAPK signalling, and upregulation of glomerular mRNA levels of pro-inflammatory molecules (TNF-α, NOS2, MMP-12 and CCL2).", "output": {"entities": {"gene": [{"text": "JNK", "start": 211, "end": 214}], "disease": [{"text": "heavy proteinuria", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Patients with early-stage single-nodule HCC treated with RFA were included, and tissue expression of miR-34a were assessed by quantitative reverse-transcription polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "HCC", "start": 40, "end": 43}], "disease": [{"text": "nodule", "start": 33, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "although VIN is still a premalignant disease, it already displays several hallmarks of cancer.", "output": {"entities": {"gene": [{"text": "VIN", "start": 9, "end": 12}], "disease": [{"text": "cancer", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "It is completely unresolved, whether coding mononucleotide repeat (cMNR) gene mutations in these mice can contribute to intestinal tumorigenesis and whether MMR-deficient mice are a suitable molecular model of human microsatellite instability (MSI)-associated intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 157, "end": 160}], "disease": [{"text": "tumorigenesis", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In lymph node draining sites of immunization, MMF limited both enlargement and the increased proportion of CD3 +, CD4 +, and CD8 + T cells observed in untreated HN and CFA controls.", "output": {"entities": {"gene": [{"text": "CD4", "start": 114, "end": 117}], "disease": [{"text": "enlargement", "start": 63, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.", "output": {"entities": {"gene": [{"text": "ANK", "start": 99, "end": 102}], "disease": [{"text": "Autosomal dominant craniometaphyseal dysplasia", "start": 0, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ANK", "start": 99, "end": 102}, "tail": {"text": "Autosomal dominant craniometaphyseal dysplasia", "start": 0, "end": 46}}]}}, "schema": []}
{"input": "Within 10 min of ischemia, eukaryotic (eIF) 4E binds to its negative regulator, eIF4E-binding protein-1 (4E-BP1), but the levels of 4E-BP1 are insufficient to disrupt cap-dependent mRNA initiation complexes.", "output": {"entities": {"gene": [{"text": "4E-BP1", "start": 105, "end": 111}], "disease": [{"text": "ischemia", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The asthma susceptibility correlated significantly with IL-10 promoter gene-1082 polymorphism [OR (95% CI) 1. 26 (1. 02, 1. 55) for AA vs. AG + GG] and-592 polymorphism [OR (95% CI) 1. 12 (1. 07, 1. 34) for AC + AA vs. CC] (both P < 0. 05), but not with-819 polymorphism (P > 0. 05).", "output": {"entities": {"gene": [{"text": "IL-10", "start": 56, "end": 61}], "disease": [{"text": "asthma susceptibility", "start": 4, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "TL1A production was localized to the intestinal lamina propria in macrophages and CD4 (+) and CD8 (+) lymphocytes from CD patients as well as in plasma cells from ulcerative colitis patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 82, "end": 85}], "disease": [{"text": "ulcerative colitis", "start": 163, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Germ-line PTEN mutations were detected in all of five families with both breast cancer and CD, in one family with juvenile polyposis syndrome, and in one of four families with breast and thyroid tumors.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 10, "end": 14}], "disease": [{"text": "CD", "start": 91, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 10, "end": 14}, "tail": {"text": "CD", "start": 91, "end": 93}}]}}, "schema": []}
{"input": "Taken together, these results suggest that activated Ki-Ras-mediated signals are involved in the SEK1-JNK pathway through a PKC isotype that is distinct from that involved in MEK1/2-ERK activation in human colon cancer cells and independent of phosphoinositol 3-kinase activation, and the imbalance between ERK and JNK activity caused by activated Ki-Ras may play critical roles in human colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 175, "end": 179}], "disease": [{"text": "tumorigenesis", "start": 399, "end": 412}]}, "relations": {}}, "schema": []}
{"input": "], negative [NF], disorganized [DF], excitement [EF] and anxiety/depression [ADF]).", "output": {"entities": {"gene": [{"text": "ADF", "start": 77, "end": 80}], "disease": [{"text": "anxiety", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Our results therefore suggest that PTPRZ1 is unlikely to be related to the development of schizophrenia in the Japanese population.", "output": {"entities": {"gene": [{"text": "PTPRZ1", "start": 35, "end": 41}], "disease": [{"text": "schizophrenia", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTPRZ1", "start": 35, "end": 41}, "tail": {"text": "schizophrenia", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "We investigated the relationship between the personality traits measured by the Temperament and Character Inventory (TCI) and the C3111T polymorphism of the CLOCK gene in healthy Japanese subjects.", "output": {"entities": {"gene": [{"text": "CLOCK gene", "start": 157, "end": 167}], "disease": [{"text": "personality traits", "start": 45, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "After organ culture, nasal polyps were stimulated with TGF-beta1 and then treated with TSA.", "output": {"entities": {"gene": [{"text": "TSA", "start": 87, "end": 90}], "disease": [{"text": "nasal polyps", "start": 21, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy.", "output": {"entities": {"gene": [{"text": "NR2B", "start": 61, "end": 65}], "disease": [{"text": "chromosome translocation", "start": 105, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "H. influenzae requires heme for aerobic growth in vitro and is able to utilize hemoglobin and complexes of heme-hemopexin, heme-albumin, and hemoglobin-haptoglobin and ferritransferrin as sources of iron and heme in vitro.", "output": {"entities": {"gene": [{"text": "hemopexin", "start": 112, "end": 121}], "disease": [{"text": "hemoglobin", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X; 22-translocation.", "output": {"entities": {"gene": [{"text": "ZC3H7B", "start": 14, "end": 20}], "disease": [{"text": "translocation", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The cross-section area of HSP subjects at cervical level C2 was 59. 42 +/-12. 57 mm2 and at thoracic level T9 was 28. 58 +/-5. 25 mm2.", "output": {"entities": {"gene": [{"text": "mm2", "start": 81, "end": 84}], "disease": [{"text": "thoracic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Seventeen patients from two families with myoclonus and epilepsy were evaluated clinically and underwent EEG, EMG, jerk-locked averaging, and MRI scanning.", "output": {"entities": {"gene": [{"text": "MRI", "start": 142, "end": 145}], "disease": [{"text": "epilepsy", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVE: The objective of this study was to establish whether single-nucleotide polymorphisms (SNPs) in PPARD and PPARGC1A modulate the effect of exercise training on change in aerobic physical fitness and insulin sensitivity and whether they affect mitochondrial function in human myotubes in vitro.", "output": {"entities": {"gene": [{"text": "PPARGC1A", "start": 116, "end": 124}], "disease": [{"text": "insulin sensitivity", "start": 208, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The distributions of the Hp genotypes were as follows: no-retinopathy group: 28. 6% Hp1-1, 35. 7% Hp2-1, and 35. 7% Hp2-2 and proliferative retinopathy group: 22. 6% Hp1-1, 27. 4% Hp2-1, and 50% Hp2-2 (NS).", "output": {"entities": {"gene": [{"text": "Hp1", "start": 84, "end": 87}], "disease": [{"text": "retinopathy", "start": 58, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Multivariate Cox regression identified Notch1 as an independent prognostic factor.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 39, "end": 45}], "disease": [{"text": "regression", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "TNAP deficiency, however, may also result in neurological symptoms such as neonatal seizures.", "output": {"entities": {"gene": [{"text": "TNAP", "start": 0, "end": 4}], "disease": [{"text": "neurological symptoms", "start": 45, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "DNA copy number alterations and PPARG amplification in a patient with multifocal bladder urothelial carcinoma.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 32, "end": 37}], "disease": [{"text": "bladder urothelial carcinoma", "start": 81, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In GCA, IFN-gamma functional polymorphisms are associated with clinical manifestations of severity rather than susceptibility to this vasculitis.", "output": {"entities": {"gene": [{"text": "IFN", "start": 8, "end": 11}], "disease": [{"text": "vasculitis", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Conversely, excess extracellular Ca2 + entered Ca2 + channels and increased intracellular Ca2 + leading to calpain activation and necrosis.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 33, "end": 36}], "disease": [{"text": "necrosis", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We aimed therefore to determine whether there is a difference between both groups: first, in the expression of the osteoclastogenic and anti-osteoclastogenic cytokines, second, in correlation of these cytokines with bone mineral density (BMD) and levels of bone turnover markers (BTM) and third, in correlation between the expression of these cytokines and osteoclast specific genes and RANK/RANKL/OPG genes.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 392, "end": 397}], "disease": [{"text": "bone mineral density", "start": 216, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "It was found that elevated alkaline phosphatase and parathyroid hormone levels could be significantly lowered (statistically).", "output": {"entities": {"gene": [{"text": "parathyroid hormone", "start": 52, "end": 71}], "disease": [{"text": "elevated alkaline phosphatase", "start": 18, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We report two patients with a distinctive biphenotypic hematologic disorder characterized by lymphoblastic lymphoma (LBL), eosinophilia, and myeloid malignancy and/or hyperplasia associated with a t (8; 13) (p11; q11) chromosomal translocation in both bone marrow and lymph node specimens.", "output": {"entities": {"gene": [{"text": "p11", "start": 208, "end": 211}], "disease": [{"text": "eosinophilia", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders.", "output": {"entities": {"gene": [{"text": "CCDC114", "start": 41, "end": 48}], "disease": [{"text": "PCD", "start": 88, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC114", "start": 41, "end": 48}, "tail": {"text": "PCD", "start": 88, "end": 91}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization analysis revealed the presence of EWSR1/FLI1 translocation in both histologic distinct components.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 69, "end": 74}], "disease": [{"text": "translocation", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that increased expression of AM in hypoxic cells was the result of excessive AM production with resultant AM receptor down-regulation, surface-membrane protein degradation and that the new specific ACAT inhibitor would reduce AM induction in hypoxia and thus proliferation of cells.", "output": {"entities": {"gene": [{"text": "ACAT", "start": 214, "end": 218}], "disease": [{"text": "hypoxia", "start": 258, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "Serologic responses to RHAMM were observed in patients with AML (42%), CML (31%), melanoma (83%), renal cell carcinoma (40%), breast cancer (67%), and ovarian carcinoma (50%), but not in HV or patients with autoimmune diseases.", "output": {"entities": {"gene": [{"text": "RHAMM", "start": 23, "end": 28}], "disease": [{"text": "melanoma", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype-phenotype correlations.", "output": {"entities": {"gene": [{"text": "GABRG2", "start": 73, "end": 79}], "disease": [{"text": "sporadic", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "To study the role of HOXB13 in colorectal tumorigenesis, we evaluated the expression of HOXB13 in 53 colorectal tumours originated from the distal left colon to rectum with their matching normal tissues using quantitative RT-PCR analysis.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 21, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "These immunologically' biphenotypic' BCP-cell lines are generally TdT + CD10 + CD13 + CD19 + CD22 + CD34 + and carry the Philadelphia (Ph) translocation.", "output": {"entities": {"gene": [{"text": "BCP", "start": 37, "end": 40}], "disease": [{"text": "translocation", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "However, there was no correlation between expansion of total CD56 (-)/CD16 (+) NK cells or the distinct subpopulations and viral load or CD4 cell count.", "output": {"entities": {"gene": [{"text": "CD16", "start": 70, "end": 74}], "disease": [{"text": "viral load", "start": 123, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype.", "output": {"entities": {"gene": [{"text": "BSND gene", "start": 70, "end": 79}], "disease": [{"text": "mild", "start": 105, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Samples from eight patients with nonclassic 21-hydroxylase deficiency who had the haplotype HLA-B14, DR1 contained a hybridizing fragment 3700 base pairs long, indicating the presence of the valine-281 mutation in the CYP21B gene.", "output": {"entities": {"gene": [{"text": "CYP21B", "start": 218, "end": 224}], "disease": [{"text": "21-hydroxylase deficiency", "start": 44, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21B", "start": 218, "end": 224}, "tail": {"text": "21-hydroxylase deficiency", "start": 44, "end": 69}}]}}, "schema": []}
{"input": "However, lumican and biglycan showed strong immunoreactivity in mild and severe persistent allergic nasal mucosa, which was verified by Western blotting.", "output": {"entities": {"gene": [{"text": "biglycan", "start": 21, "end": 29}], "disease": [{"text": "mild", "start": 64, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The human amelanotic melanoma cell line, C32, is known to express CD36 and has been as a model for studying TSP binding.", "output": {"entities": {"gene": [{"text": "CD36", "start": 66, "end": 70}], "disease": [{"text": "amelanotic melanoma", "start": 10, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.", "output": {"entities": {"gene": [{"text": "angiotensin converting enzyme", "start": 201, "end": 230}], "disease": [{"text": "renal tubular dysgenesis", "start": 31, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "angiotensin converting enzyme", "start": 201, "end": 230}, "tail": {"text": "renal tubular dysgenesis", "start": 31, "end": 55}}]}}, "schema": []}
{"input": "PAR-1 was significantly overexpressed in atypical nevi and melanomas in comparison with common melanocytic nevi.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 0, "end": 5}], "disease": [{"text": "atypical nevi", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "S100P expression showed to be significantly correlated with clinical staging, lymph node metastasis and recurrence.", "output": {"entities": {"gene": [{"text": "S100P", "start": 0, "end": 5}], "disease": [{"text": "lymph node metastasis", "start": 78, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Dectin-1 is a C-type lectin receptor critical in anti-fungal immunity, but Dectin-1 has not been linked to regulation of sterile inflammation or oncogenesis.", "output": {"entities": {"gene": [{"text": "Dectin-1", "start": 0, "end": 8}], "disease": [{"text": "inflammation", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Lung ADCs lacking receptor tyrosine kinase-Ras-Raf pathway alterations had mutations in SOS1, VAV1, RASA1, and ARHGAP35.", "output": {"entities": {"gene": [{"text": "VAV1", "start": 94, "end": 98}], "disease": [{"text": "ADC", "start": 5, "end": 8}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VAV1", "start": 94, "end": 98}, "tail": {"text": "ADC", "start": 5, "end": 8}}]}}, "schema": []}
{"input": "20 microgram TRH injected bilaterally into the caudate-putamen, tuberculum olfactorium, nucleus accumbens, amygdala, lateral ventricles, midbrain or cerebral cortex failed to induce any increase in locomotor activity (measured using photocells), although other behavioural changes were observed after each injection, and included body shakes, limb tremor, repetitive head and limb movements, biting, scratching and an alert appearance.", "output": {"entities": {"gene": [{"text": "TRH", "start": 13, "end": 16}], "disease": [{"text": "limb tremor", "start": 343, "end": 354}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRH", "start": 13, "end": 16}, "tail": {"text": "limb tremor", "start": 343, "end": 354}}]}}, "schema": []}
{"input": "These observations suggest that epigenetic changes in the MLH1 locus account for MSI in most cases of sporadic endometrial cancers and provide additional evidence that the MSH2 gene may contribute substantially to inherited forms of endometrial cancer.", "output": {"entities": {"gene": [{"text": "MSH2 gene", "start": 172, "end": 181}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.", "output": {"entities": {"gene": [{"text": "FCN3", "start": 33, "end": 37}], "disease": [{"text": "ficolin-3 deficiency", "start": 51, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FCN3", "start": 33, "end": 37}, "tail": {"text": "ficolin-3 deficiency", "start": 51, "end": 71}}]}}, "schema": []}
{"input": "The increased IL-2 release from Th1 cells in COPD might contribute to airway inflammation in disease exacerbations.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 14, "end": 18}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Here, we provide mechanistic insight into the role of FGFR4-mediated signalling for the aggressive behaviour of HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 112, "end": 115}], "disease": [{"text": "aggressive behaviour", "start": 88, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Unselected patients (108) who underwent curative colorectal resection for sporadic colorectal cancer in a three-year period were evaluated for MSI using 6 microsatellite markers, and for the presence of p27, p53, Fhit, Mlh1 and Msh2 proteins by means of immunostaining.", "output": {"entities": {"gene": [{"text": "Msh2", "start": 228, "end": 232}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "15-PGDH/15-KETE plays a role in hypoxia-induced pulmonary vascular remodeling through ERK1/2-dependent PAR-2 pathway.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 86, "end": 90}], "disease": [{"text": "vascular remodeling", "start": 58, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "It may involve direct effects of inhibiting ATPase function, indirect effects by inducing the heat-shock-response resulting in upregulation of other chaperone proteins like HSP70 or a combination of both.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 173, "end": 178}], "disease": [{"text": "shock", "start": 99, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The contribution of endogenous and recombinant transient receptor potential vanilloid type 6 (TRPV6) channels to Ca2 + entry across the plasma membrane was studied in the human lymph node prostate cancer cell line (LNCaP).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 113, "end": 116}], "disease": [{"text": "prostate cancer", "start": 188, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Receptor for advanced glycation end products (RAGE) and connective tissue growth factor (CTGF) play a key role in diabetic myocardial fibrosis, and peroxisome proliferator-activated receptor-gamma (PPAR-gamma) activation has been reported to reduce RAGE and CTGF expression.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 89, "end": 93}], "disease": [{"text": "myocardial fibrosis", "start": 123, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "In OSCC samples, 65% of those with deep tumour invasion (adventitia) and 63% samples with metastasis revealed p300 promoter methylation (p & lt; 0. 05). p300 mRNA expression was observed in 19. 0% (4/21) of methylated tumours and 58. 6% (17/29) of unmethylated tumours (p = 0. 005).", "output": {"entities": {"gene": [{"text": "p300", "start": 110, "end": 114}], "disease": [{"text": "OSCC", "start": 3, "end": 7}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p300", "start": 110, "end": 114}, "tail": {"text": "OSCC", "start": 3, "end": 7}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization showed ALK rearrangements in nine cases (47%), aneuploidy in three cases (16%), and no rearrangement in seven cases (37%).", "output": {"entities": {"gene": [{"text": "ALK", "start": 42, "end": 45}], "disease": [{"text": "aneuploidy", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Deafness at diagnosis was constant in patients with BSND mutations; transient neonatal hyperkalaemia was present in two-thirds of the children with KCNJ1 mutations.", "output": {"entities": {"gene": [{"text": "KCNJ1", "start": 148, "end": 153}], "disease": [{"text": "hyperkalaemia", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.", "output": {"entities": {"gene": [{"text": "SPG7", "start": 35, "end": 39}], "disease": [{"text": "lateral sclerosis", "start": 77, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG7", "start": 35, "end": 39}, "tail": {"text": "lateral sclerosis", "start": 77, "end": 94}}]}}, "schema": []}
{"input": "Little is known about the importance of hypoxia in pediatric tumors; therefore, we evaluated the effects of hypoxia on the response of the neuroblastoma cell lines SH-EP1 and SH-SY5Y to the clinically relevant drugs, vincristine, etoposide, and cisplatin.", "output": {"entities": {"gene": [{"text": "EP1", "start": 167, "end": 170}], "disease": [{"text": "tumors", "start": 61, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate TPA and PAI-1 gene polymorphisms in relation to susceptibility to generalized aggressive periodontitis (G-AgP).", "output": {"entities": {"gene": [{"text": "TPA", "start": 41, "end": 44}], "disease": [{"text": "aggressive periodontitis", "start": 119, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "There was no correlation between FVIII-VWF and fibrinogen levels in the CTEPH group (P = 0. 84 for FVIII and 0. 49 for VWF) but a strong correlation between FVIII-VWF and fibrinogen in the non-CTEPH (P < 0. 0001).", "output": {"entities": {"gene": [{"text": "FVIII", "start": 33, "end": 38}], "disease": [{"text": "fibrinogen", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Signaling through the mammalian target of rapamycin (mTOR) has been found to impact insulin sensitivity under various pathological conditions, through serine phosphorylation and inhibition of insulin receptor substrate by the downstream effector of mTOR, ribosomal S6 kinase 1 (S6K1).", "output": {"entities": {"gene": [{"text": "ribosomal S6 kinase 1", "start": 255, "end": 276}], "disease": [{"text": "insulin sensitivity", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Addition of caffeine, UCN-01, or inhibitors of checkpoint pathways or silencing of Chk1 suppressed the accumulation of overreplicated cells and promoted apoptosis.", "output": {"entities": {"gene": [{"text": "Chk1", "start": 83, "end": 87}], "disease": [{"text": "caffeine", "start": 12, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.", "output": {"entities": {"gene": [{"text": "IKAP", "start": 63, "end": 67}], "disease": [{"text": "FD", "start": 88, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IKAP", "start": 63, "end": 67}, "tail": {"text": "FD", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "She presented with mental retardation, developmental motor delay, epilepsy exhibiting the feature of Lennox-Gastaut syndrome, exotropia, bilateral polymicrogyria with a relatively spared perisylvian region, bilateral patchy-white-matter MRI signal changes, and hypoplastic pontine basis.", "output": {"entities": {"gene": [{"text": "MRI", "start": 237, "end": 240}], "disease": [{"text": "epilepsy", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Here, we employed several complementary mouse models of intestinal cancers, including the Slit2 transgenic mice, the ApcMin/+ spontaneous intestinal adenoma mouse model, and the DMH/DSS-induced colorectal carcinoma model to clarify function of Slit2/Robo1 signaling in intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "Robo1", "start": 250, "end": 255}], "disease": [{"text": "tumorigenesis", "start": 280, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Oxaliplatin elicits mechanical and cold allodynia in rodents via TRPA1 receptor stimulation.", "output": {"entities": {"gene": [{"text": "TRPA1", "start": 65, "end": 70}], "disease": [{"text": "allodynia", "start": 40, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPA1", "start": 65, "end": 70}, "tail": {"text": "allodynia", "start": 40, "end": 49}}]}}, "schema": []}
{"input": "Phosphatase and tensin homologue (PTEN), an established NEDD4 target, was increased and accumulated in highly atrophic DM2 muscle fibers.", "output": {"entities": {"gene": [{"text": "tensin", "start": 16, "end": 22}], "disease": [{"text": "atrophic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Biochemical analysis revealed intrahepatic cholestasis, delayed switch of AFP to albumin, and elevated triglyceride, total cholesterol and LDL-cholesterol together with reduced HDL-cholesterol.", "output": {"entities": {"gene": [{"text": "AFP", "start": 74, "end": 77}], "disease": [{"text": "intrahepatic cholestasis", "start": 30, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "CA15. 3 (soluble MUC1) levels were significantly higher in the serum of mesothelioma patients than in healthy controls but were not significantly different to levels in patients with benign asbestos-related disease.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 17, "end": 21}], "disease": [{"text": "mesothelioma", "start": 72, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MUC1", "start": 17, "end": 21}, "tail": {"text": "mesothelioma", "start": 72, "end": 84}}]}}, "schema": []}
{"input": "Electrocardiography (ECG), heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), serum lipid levels (T-CHO, HDL-CHO, TG), and fibrinogen were determined before and after propranolol administration.", "output": {"entities": {"gene": [{"text": "DBP", "start": 101, "end": 104}], "disease": [{"text": "systolic blood pressure", "start": 44, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We assume that these genetic variants do not play a dominant role in silicosis and PTB in our Chinese population.", "output": {"entities": {"gene": [{"text": "PTB", "start": 83, "end": 86}], "disease": [{"text": "silicosis", "start": 69, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Our results that MDR1 mRNA was frequently expressed in CD7 + AML and CD7 + CD4-CD8-ALL, together with the previous reports indicating clinical similarities between these leukemias, provides a clue to clarify a relationship between CD7 + AML and CD7 + CD4-CD8-ALL.", "output": {"entities": {"gene": [{"text": "CD4", "start": 75, "end": 78}], "disease": [{"text": "leukemias", "start": 170, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We genotyped ALAS2 in 4 unrelated CEP patients exhibiting the same C73R/P248Q UROS genotype.", "output": {"entities": {"gene": [{"text": "UROS", "start": 78, "end": 82}], "disease": [{"text": "CEP", "start": 34, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UROS", "start": 78, "end": 82}, "tail": {"text": "CEP", "start": 34, "end": 37}}]}}, "schema": []}
{"input": "Children with GNMT mutation have elevated liver transaminases, and Gnmt knockout mice develop liver injury, fibrosis, and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 122, "end": 125}], "disease": [{"text": "fibrosis", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46, XX, der (17) t (5; 17) (p13. 1; p13. 3) mat chromosome complement.", "output": {"entities": {"gene": [{"text": "p13", "start": 405, "end": 408}], "disease": [{"text": "partial agenesis of corpus callosum", "start": 175, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c. 317T & gt; G (p. L106R), c. G139C (p. D47H), and c. C257A (p. S86Y).", "output": {"entities": {"gene": [{"text": "GJA1", "start": 188, "end": 192}], "disease": [{"text": "ODDD", "start": 107, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJA1", "start": 188, "end": 192}, "tail": {"text": "ODDD", "start": 107, "end": 111}}]}}, "schema": []}
{"input": "In the NETT Genetics Ancillary Study population, SNPs in microsomal epoxide hydrolase (EPHX1) [p = 0. 01 to 0. 04] and serpin peptidase inhibitor, clade E, member 2 (SERPINE2) [p = 0. 04 to 0. 008] were associated with hypoxemia.", "output": {"entities": {"gene": [{"text": "EPHX1", "start": 87, "end": 92}], "disease": [{"text": "hypoxemia", "start": 219, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings suggest that the glycolytic enzyme GAPDH regulates the gene expression of ccn2 mRNA in trans by acting as a sensor of oxidative stress and redox signals, leading to CCN2 overexpression under the condition of hypoxia and promotion of angiogenesis.", "output": {"entities": {"gene": [{"text": "ccn2", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 239, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "In the present report, through screening 23 unrelated AR LGMD patients, we identified three subjects with LGMD2F, two with a previously reported frameshift mutation and the other homozygous for a new missense mutation in the delta sarcoglycan gene.", "output": {"entities": {"gene": [{"text": "delta sarcoglycan", "start": 225, "end": 242}], "disease": [{"text": "LGMD2F", "start": 106, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "delta sarcoglycan", "start": 225, "end": 242}, "tail": {"text": "LGMD2F", "start": 106, "end": 112}}]}}, "schema": []}
{"input": "Overexpression of RB2/p130 not only suppresses tumor formation in nude mice but also causes regression of established tumor grafts, suggesting that RB2/p130 may modulate the angiogenetic balance.", "output": {"entities": {"gene": [{"text": "RB2", "start": 18, "end": 21}], "disease": [{"text": "regression", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemically, both the mucinous and nonmucinous components were positive for cytokeratin 7, TTF-1, and E-cadherin, and negative for cytokeratin 20, consistent with the results for nonmucinous bronchioloalveolar carcinoma.", "output": {"entities": {"gene": [{"text": "cytokeratin 7", "start": 86, "end": 99}], "disease": [{"text": "bronchioloalveolar carcinoma", "start": 201, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "We genotyped IL12A rs568408 [3' untranslated region (UTR) G > A] and rs2243115 (5' UTR T > G) and IL12B rs3212227 (3' UTR A > C) in a hospital-based study of 404 cervical cancer cases and 404 cancer-free controls.", "output": {"entities": {"gene": [{"text": "UTR", "start": 53, "end": 56}], "disease": [{"text": "cervical cancer", "start": 162, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis.", "output": {"entities": {"gene": [{"text": "CHAC", "start": 17, "end": 21}], "disease": [{"text": "chorea-acanthocytosis", "start": 64, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHAC", "start": 17, "end": 21}, "tail": {"text": "chorea-acanthocytosis", "start": 64, "end": 85}}]}}, "schema": []}
{"input": "Using immunocytochemistry for IL-1alpha, beta, IL-6, tumor necrosis factor (TNF)-alpha, and macrophage chemotactic protein (MCP)-1, only IL-1beta was found to be induced in reactive astrocytes surrounding beta-amyloid deposits detected in 14-month-old Tg2576 mice.", "output": {"entities": {"gene": [{"text": "MCP", "start": 124, "end": 127}], "disease": [{"text": "amyloid deposits", "start": 210, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "These results are specific to the KCNC3 (R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13.", "output": {"entities": {"gene": [{"text": "KCNC3", "start": 34, "end": 39}], "disease": [{"text": "SCA13", "start": 132, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNC3", "start": 34, "end": 39}, "tail": {"text": "SCA13", "start": 132, "end": 137}}]}}, "schema": []}
{"input": "Serum sCD30 levels and CD26 (DPPIV) enzyme activity were compared with IFN-gamma production by PBMC cultured with cytomegalovirus (CMV) antigen in controls and patient groups.", "output": {"entities": {"gene": [{"text": "DPPIV", "start": 29, "end": 34}], "disease": [{"text": "cytomegalovirus", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Our findings show that both drugs demonstrate efficacy in reversing the SQT1 phenotype, and indicate that disopyramide warrants further investigation as an alternative to quinidine in the treatment of SQT1.", "output": {"entities": {"gene": [{"text": "SQT1", "start": 72, "end": 76}], "disease": [{"text": "SQT1", "start": 201, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SQT1", "start": 72, "end": 76}, "tail": {"text": "SQT1", "start": 201, "end": 205}}]}}, "schema": []}
{"input": "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.", "output": {"entities": {"gene": [{"text": "NPHP1", "start": 75, "end": 80}], "disease": [{"text": "juvenile nephronophthisis", "start": 86, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHP1", "start": 75, "end": 80}, "tail": {"text": "juvenile nephronophthisis", "start": 86, "end": 111}}]}}, "schema": []}
{"input": "Microsatellite (DNA repetitive sequences) instability (MSI) used as a surrogate marker of MMR defects was associated with a predisposition to somatic mutations of several genes including those involved in the neoplastic transformation and tumor progression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 90, "end": 93}], "disease": [{"text": "neoplastic transformation", "start": 209, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I.", "output": {"entities": {"gene": [{"text": "neural cell adhesion molecule L1", "start": 26, "end": 58}], "disease": [{"text": "X-linked hydrocephalus", "start": 132, "end": 154}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "neural cell adhesion molecule L1", "start": 26, "end": 58}, "tail": {"text": "X-linked hydrocephalus", "start": 132, "end": 154}}]}}, "schema": []}
{"input": "Therapeutic applications of IL-2 may also be expanded to relieve morphine-insensitive pain.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 28, "end": 32}], "disease": [{"text": "pain", "start": 86, "end": 90}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-2", "start": 28, "end": 32}, "tail": {"text": "pain", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "More recently, a direct role for UCP-2 in the regulation of atherogenesis has been suggested by the observation that bone marrow transplantation from UCP-2-deficient mice to low-density lipoprotein receptor-deficient mice markedly increased atherosclerotic lesion size.", "output": {"entities": {"gene": [{"text": "UCP", "start": 33, "end": 36}], "disease": [{"text": "atherosclerotic lesion", "start": 241, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Moreover, enhanced expression of cross-linked Sp1 and TG2 was evident in hepatocyte nuclei of patients with alcoholic steatohepatitis.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 46, "end": 49}], "disease": [{"text": "alcoholic steatohepatitis", "start": 108, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Previously, we demonstrated an elevated SH3-containing guanine nucleotide exchange factor (SGEF) expression in clinical specimens with prostate cancer and implicated the role of SGEF in prostate tumorigenesis.", "output": {"entities": {"gene": [{"text": "SGEF", "start": 91, "end": 95}], "disease": [{"text": "prostate cancer", "start": 135, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Our data provide molecular evidences that LOX is mechanistically linked to increased invasion and migration of hypoxic NSCLC cells, and may serve as an antimetastasis target of human NSCLC.", "output": {"entities": {"gene": [{"text": "LOX", "start": 42, "end": 45}], "disease": [{"text": "hypoxic", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our results provide the first demonstration of inflammation-mediated lymphangiogenesis in AD and that IL-4 triggered macrophage recruitment may be closely linked to this phenomenon.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 102, "end": 106}], "disease": [{"text": "inflammation", "start": 47, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "However, after a pilocarpine-induced convulsive status epilepticus, clear MRP2 staining became visible in brain capillary endothelial cells and, less frequently, perivascular astroglia and neurons in various brain regions.", "output": {"entities": {"gene": [{"text": "MRP2", "start": 74, "end": 78}], "disease": [{"text": "convulsive status epilepticus", "start": 37, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MRP2", "start": 74, "end": 78}, "tail": {"text": "convulsive status epilepticus", "start": 37, "end": 66}}]}}, "schema": []}
{"input": "CDT1 expression is higher in severe dysplasia than in mild and moderate dysplasia.", "output": {"entities": {"gene": [{"text": "CDT1", "start": 0, "end": 4}], "disease": [{"text": "mild", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "miR-4717 levels in peripheral lymphocytes from patients with HBV-related chronic hepatitis, cirrhosis and HCC were significantly decreased.", "output": {"entities": {"gene": [{"text": "HCC", "start": 106, "end": 109}], "disease": [{"text": "chronic hepatitis", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These data clearly indicate that signalling through CCR2 has many effects on the normal growth and development of hepatic granulomas.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 52, "end": 56}], "disease": [{"text": "granulomas", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "This study had three objectives: (1) to characterize the structures of the chicken GCAP1 and GCAP2 genes; (2) to determine if GCAP1, GCAP2, and GC1 genes are expressed in chicken pineal gland; (3) if GC1 is expressed in chicken pineal, to determine if the GC1 null mutation carried by the retinal degeneration (rd) chicken is associated with degenerative changes within the pineal glands of these animals.", "output": {"entities": {"gene": [{"text": "GCAP1", "start": 83, "end": 88}], "disease": [{"text": "retinal degeneration", "start": 289, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.", "output": {"entities": {"gene": [{"text": "HOXA13", "start": 70, "end": 76}], "disease": [{"text": "hematologic malignancies", "start": 149, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "SST hypermethylation showed highly discriminative receiver-operator characteristic curve profiles, clearly distinguishing esophageal squamous cell carcinomas (ESCC) and esophageal adenocarcinomas (EAC) from normal esophagus (NE) (P <. 01).", "output": {"entities": {"gene": [{"text": "SST", "start": 0, "end": 3}], "disease": [{"text": "esophageal", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "When adjusted for age, sex, smoking status, and alcohol use, the increased risk for ESCC was significantly associated with reduced expression of GSTP1, MTHFR, and NQO1, and GSTP1 mRNA showed a steady association with the risk for ESCC (OR = 2. 640) in the model of stepwise regression analysis.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 145, "end": 150}], "disease": [{"text": "alcohol use", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "A high frequency of allelic loss at the BRCA2 gene locus has also been reported in a variety of sporadic epithelial tumors including oesophageal squamous cell carcinomas (SCC), and sporadic head and neck SCC.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 40, "end": 50}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluate the value of identifying MAML2 rearrangement by fluorescence in situ hybridization (FISH) to distinguish TMEC from poorly differentiated squamous cell carcinoma and adenosquamous carcinoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 111, "end": 115}], "disease": [{"text": "squamous cell carcinoma", "start": 164, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity.", "output": {"entities": {"gene": [{"text": "RAI1", "start": 14, "end": 18}], "disease": [{"text": "hyperactivity", "start": 467, "end": 480}]}, "relations": {}}, "schema": []}
{"input": "The 972 kindreds include 2284 cases of BPI disorder, 498 individuals with bipolar II disorder (BPII) and 702 subjects with recurrent major depression.", "output": {"entities": {"gene": [{"text": "BPI", "start": 39, "end": 42}], "disease": [{"text": "major depression", "start": 133, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "ERK and NF-κB play regulatory roles for the expression of adhesion molecules and chemokines in coculture.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 8, "end": 13}], "disease": [{"text": "adhesion", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal.", "output": {"entities": {"gene": [{"text": "MIM", "start": 22, "end": 25}], "disease": [{"text": "sex reversal", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "IL-12 (p40) transcripts were elevated in adults and children in association with follicular inflammation but not with scarring.", "output": {"entities": {"gene": [{"text": "p40", "start": 7, "end": 10}], "disease": [{"text": "scarring", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 6, "end": 10}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 38, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 6, "end": 10}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 38, "end": 73}}]}}, "schema": []}
{"input": "The aim was to study the relationship between adipose AQP7 and hepatic AQP9 messenger RNA expression and the presence of glucose abnormalities simultaneously in morbid obesity.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 71, "end": 75}], "disease": [{"text": "abnormalities", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "CEA-related cell adhesion molecule-1 is involved in angiogenic switch in prostate cancer.", "output": {"entities": {"gene": [{"text": "CEA", "start": 0, "end": 3}], "disease": [{"text": "angiogenic switch", "start": 52, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, & #946;-catenin, melan-A, glucose transporter-1, cytokeratin CAM5. 2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma.", "output": {"entities": {"gene": [{"text": "vimentin", "start": 74, "end": 82}], "disease": [{"text": "malignant mesothelioma", "start": 271, "end": 293}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vimentin", "start": 74, "end": 82}, "tail": {"text": "malignant mesothelioma", "start": 271, "end": 293}}]}}, "schema": []}
{"input": "Expression studies revealed that only K217E is a deleterious mutation, because a plasmid encoding ALDP with K217E was ineffective in the restoration of defective beta-oxidation in X-ALD fibroblasts.", "output": {"entities": {"gene": [{"text": "ALDP", "start": 98, "end": 102}], "disease": [{"text": "X-ALD", "start": 180, "end": 185}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALDP", "start": 98, "end": 102}, "tail": {"text": "X-ALD", "start": 180, "end": 185}}]}}, "schema": []}
{"input": "The purpose of this study was to review the sonographic features of breast cancer gene BRCA1-and BRCA2-associated breast carcinomas in comparison with \" sporadic \" breast carcinomas and benign breast masses.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 97, "end": 102}], "disease": [{"text": "sporadic", "start": 153, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 27, "end": 33}], "disease": [{"text": "CEL", "start": 74, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIP1L1", "start": 27, "end": 33}, "tail": {"text": "CEL", "start": 74, "end": 77}}]}}, "schema": []}
{"input": "Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation.", "output": {"entities": {"gene": [{"text": "NTS", "start": 20, "end": 23}], "disease": [{"text": "immune dysregulation", "start": 162, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrated that long-term CAR activation by TCPOBOP increased liver-to-body weight ratio and decreased tumour suppressor Foxo1 expression and transcriptional activity, which were correlated with reduced expression of genes regulated by Foxo1, including the cell-cycle inhibitor Cdkn1a (p21), and upregulation of the cell-cycle regulator Cyclin D1.", "output": {"entities": {"gene": [{"text": "p21", "start": 306, "end": 309}], "disease": [{"text": "body weight", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "GEM models of mammary carcinoma have proven to be invaluable tools to gain insight into mechanisms underlying tumor initiation, progression, and therapeutic responses in an in vivo system where tumors spontaneously develop in an appropriate tissue environment.", "output": {"entities": {"gene": [{"text": "GEM", "start": 0, "end": 3}], "disease": [{"text": "tumor initiation", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "To investigate the possible involvement of BRCA2 in sporadic breast tumors, we looked at LOH at eight microsatellite (CA) n markers distributed along chromosome 13 in a panel of 59 primary breast carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 43, "end": 48}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The detection of one nonsense point mutation and one missense WT1 gene point mutation adds to the accumulating evidence implicating this gene in a proportion of Wilms tumor patients.", "output": {"entities": {"gene": [{"text": "WT1", "start": 62, "end": 65}], "disease": [{"text": "Wilms tumor", "start": 161, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WT1", "start": 62, "end": 65}, "tail": {"text": "Wilms tumor", "start": 161, "end": 172}}]}}, "schema": []}
{"input": "Neuroblastoma tumorigenesis is regulated through the Nm23-H1/h-Prune C-terminal interaction.", "output": {"entities": {"gene": [{"text": "Nm23-H1", "start": 53, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Overall, these studies demonstrate the requirement for NRIF to signal p75 (NTR)-mediated apoptosis of hippocampal neurons and that blocking pro-NGF can inhibit neuronal loss after seizures.", "output": {"entities": {"gene": [{"text": "NGF", "start": 144, "end": 147}], "disease": [{"text": "seizures", "start": 180, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NGF", "start": 144, "end": 147}, "tail": {"text": "seizures", "start": 180, "end": 188}}]}}, "schema": []}
{"input": "In a mouse model that spontaneously develops follicular thyroid cancer (FTC) with distant metastasis (TRbetaPV mouse), PTTG is overexpressed, similar to human thyroid cancer.", "output": {"entities": {"gene": [{"text": "PTTG", "start": 119, "end": 123}], "disease": [{"text": "follicular thyroid cancer", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The mean concentration of urine glucose was high in SAMP10/TaSlc mice and increased further with advancing age, whereas other strains of senescence-accelerated mice, including SAMP1/SkuSlc, SAMP6/TaSlc and SAMP8/TaSlc or normal aging control SAMR1/TaSlc mice, exhibited no detectable glucose in urine.", "output": {"entities": {"gene": [{"text": "SAMP1", "start": 52, "end": 57}], "disease": [{"text": "aging", "start": 228, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 65, "end": 70}], "disease": [{"text": "FHA", "start": 122, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 65, "end": 70}, "tail": {"text": "FHA", "start": 122, "end": 125}}]}}, "schema": []}
{"input": "We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 16, "end": 20}], "disease": [{"text": "MFS", "start": 108, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 16, "end": 20}, "tail": {"text": "MFS", "start": 108, "end": 111}}]}}, "schema": []}
{"input": "Moreover, somatically acquired p53 mutations and gene deletions are common feature in breast cancer of sporadic origin.", "output": {"entities": {"gene": [{"text": "p53", "start": 31, "end": 34}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this study we identified elevation in CD14 (+) CD16 (+), a minor blood monocyte subpopulation in cholangiocarcinoma (CCA) patients, compared to normal and biliary disease patient specimens.", "output": {"entities": {"gene": [{"text": "CD16", "start": 50, "end": 54}], "disease": [{"text": "biliary disease", "start": 158, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Among 113 primary ESCC tumors, the absence of immunoreactive CRABP1 was significantly associated with de-differentiation of cancer cells and with distant lymph-node metastases in the patients.", "output": {"entities": {"gene": [{"text": "CRABP1", "start": 61, "end": 67}], "disease": [{"text": "ESCC", "start": 18, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRABP1", "start": 61, "end": 67}, "tail": {"text": "ESCC", "start": 18, "end": 22}}]}}, "schema": []}
{"input": "We screened members of the Framingham Heart Study (FHS) for variation in three genes-SLC12A3 (NCCT), SLC12A1 (NKCC2) and KCNJ1 (ROMK)-causing rare recessive diseases featuring large reductions in blood pressure.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 110, "end": 115}], "disease": [{"text": "blood pressure", "start": 196, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "We found no differences in levels of interferon γ (IFN-γ) and interleukin 2 produced by T-helper 1 cells when comparing patients with AOT or POT to asymptomatic individuals.", "output": {"entities": {"gene": [{"text": "interleukin 2", "start": 62, "end": 75}], "disease": [{"text": "asymptomatic", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Deficiency of aromatic L-amino acid decarboxylase (AADC) is associated with severe developmental delay, oculogyric crises (OGC), and autonomic dysfunction.", "output": {"entities": {"gene": [{"text": "OGC", "start": 123, "end": 126}], "disease": [{"text": "developmental delay", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we suggest that antagonism of the MCHR1 receptor may provide a novel approach for the treatment of affective disorders, including depression, with a potentially increased efficacy in women.", "output": {"entities": {"gene": [{"text": "MCHR1", "start": 50, "end": 55}], "disease": [{"text": "depression", "start": 146, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCHR1", "start": 50, "end": 55}, "tail": {"text": "depression", "start": 146, "end": 156}}]}}, "schema": []}
{"input": "Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 26, "end": 30}], "disease": [{"text": "Marfan syndrome", "start": 65, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 26, "end": 30}, "tail": {"text": "Marfan syndrome", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.", "output": {"entities": {"gene": [{"text": "KVLQT1", "start": 94, "end": 100}], "disease": [{"text": "Romano-Ward syndrome", "start": 35, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KVLQT1", "start": 94, "end": 100}, "tail": {"text": "Romano-Ward syndrome", "start": 35, "end": 55}}]}}, "schema": []}
{"input": "The loss of PIN1 deregulates cyclin E and sensitizes mouse embryo fibroblasts to genomic instability.", "output": {"entities": {"gene": [{"text": "PIN1", "start": 12, "end": 16}], "disease": [{"text": "genomic instability", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Uncontrolled production of the pro-inflammatory cytokines such as interferon-γ (IFN-γ), tumor necrosis factor α (TNFα), interleukin-6 (IL-6), and IL-17 can promote autoimmune pathology, whereas anti-inflammatory cytokines including IL-4, IL-10, and IL-27 can help control inflammation and tissue damage.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 232, "end": 236}], "disease": [{"text": "inflammation", "start": 272, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "OATP1B3, OATP2A1, OATP3A1 and OATP4A1 protein expression was confirmed in these tissues and expression of all four transporters increased in pancreatic adenocarcinoma compared to normal pancreas.", "output": {"entities": {"gene": [{"text": "OATP3A1", "start": 18, "end": 25}], "disease": [{"text": "pancreatic adenocarcinoma", "start": 141, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "These predictions revealed that BRCA2 T2722R (8393C--& gt; G), which segregates with affected individuals in a family with breast cancer, disrupts three potential ESE sites.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 32, "end": 37}], "disease": [{"text": "breast cancer", "start": 123, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 32, "end": 37}, "tail": {"text": "breast cancer", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "Through 5' deletional and genetic reporter analyses, several functional upstream repressor regions (URRs) were identified within Prm1 in PC3, MCF-7 and MDA-MB-231 cells while site-directed mutagenesis identified the tumor suppressors Wilms' tumor (WT) 1 and hypermethylated in cancer (HIC) 1 as the trans-acting factors regulating those repressor regions.", "output": {"entities": {"gene": [{"text": "Prm1", "start": 129, "end": 133}], "disease": [{"text": "cancer", "start": 277, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "In addition to hyperlipidemia, APOC1 transgenic mice developed dry and scaly skin with loss of hair, dependent on the amount of APOC1 expression in the skin.", "output": {"entities": {"gene": [{"text": "APOC1", "start": 31, "end": 36}], "disease": [{"text": "dry", "start": 63, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis and immunocytochemistry showed that EGCG increased cell adhesion proteins including E-cadherin (CDH1), tumor-associated calcium signal transducer 1 (TACSTD1), and protein tyrosine kinase 2 (PTK2) decreased by hypoxia.", "output": {"entities": {"gene": [{"text": "TACSTD1", "start": 171, "end": 178}], "disease": [{"text": "hypoxia", "start": 231, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.", "output": {"entities": {"gene": [{"text": "coproporphyrinogen oxidase", "start": 22, "end": 48}], "disease": [{"text": "hereditary coproporphyria", "start": 98, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coproporphyrinogen oxidase", "start": 22, "end": 48}, "tail": {"text": "hereditary coproporphyria", "start": 98, "end": 123}}]}}, "schema": []}
{"input": "This is the first report of increased Palb activity in recurrence of proteinuria following transplantation in NPHS1.", "output": {"entities": {"gene": [{"text": "Palb", "start": 38, "end": 42}], "disease": [{"text": "proteinuria", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "These analyses confirm that MPDZ status is associated with severity of alcohol and pentobarbital withdrawal convulsions.", "output": {"entities": {"gene": [{"text": "MPDZ", "start": 28, "end": 32}], "disease": [{"text": "convulsions", "start": 108, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MPDZ", "start": 28, "end": 32}, "tail": {"text": "convulsions", "start": 108, "end": 119}}]}}, "schema": []}
{"input": "The results suggest that specific tumor tropic \" naïve \" MSC are reprogrammed in a tumor-specific manner to support gastric tumor progression.", "output": {"entities": {"gene": [{"text": "MSC", "start": 57, "end": 60}], "disease": [{"text": "gastric tumor", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Changes in GABA (A) receptor alpha1 subunit gene (GABRA1) expression have been reported in animal models of epilepsy, alcohol abuse, withdrawal, and stress.", "output": {"entities": {"gene": [{"text": "GABRA1", "start": 50, "end": 56}], "disease": [{"text": "alcohol abuse", "start": 118, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA1", "start": 50, "end": 56}, "tail": {"text": "alcohol abuse", "start": 118, "end": 131}}]}}, "schema": []}
{"input": "Furthermore, LOX expression is only partially dependent on hypoxia inducible factor-1 (HIF-1alpha) in poorly invasive breast cancer cells, as hypoxia mimetics and overexpression of HIF-1alpha could not up-regulate LOX expression to the levels observed under hypoxia.", "output": {"entities": {"gene": [{"text": "LOX", "start": 13, "end": 16}], "disease": [{"text": "hypoxia", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "To assess whether the mRNA levels of adiponectin and its receptors (ADIPOR1 and ADIPOR2) might show daily circadian rhythms in visceral and sc fat explants obtained from morbid obese women, visceral and sc abdominal AT biopsies (n = 6) were obtained from morbidly obese women (body mass index > or = 40 kg/m (2)).", "output": {"entities": {"gene": [{"text": "ADIPOR2", "start": 80, "end": 87}], "disease": [{"text": "body mass index", "start": 277, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "Our results indicated that expression of ATP5J was significantly higher in colorectal cancer tissue than in adjacent tissue, and it was also significantly higher in metastatic lymph nodes than in primary cancer tissue (P < 0. 05).", "output": {"entities": {"gene": [{"text": "ATP5J", "start": 41, "end": 46}], "disease": [{"text": "primary cancer", "start": 196, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.", "output": {"entities": {"gene": [{"text": "ACAD9", "start": 72, "end": 77}], "disease": [{"text": "ACAD9 deficiency", "start": 117, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACAD9", "start": 72, "end": 77}, "tail": {"text": "ACAD9 deficiency", "start": 117, "end": 133}}]}}, "schema": []}
{"input": "We investigated the relationship between the variable number of tandem repeats (VNTR) for IL-4, which is an important biomarker of inflammation, and the risk of IS.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 90, "end": 94}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Endothelial treatment with 10 U/ml tissue necrosis factor-α and 20 U/ml interferon-γ resulted in de novo expression of pro-inflammatory chemokines CCL2, CXCL9, CXCL11, and CCL20, with increased expression of CXCL2-3, CXCL8, and CXCL10 relative to basal levels.", "output": {"entities": {"gene": [{"text": "CCL20", "start": 172, "end": 177}], "disease": [{"text": "necrosis", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Some neuroendocrine tumor (NET) and neuroblastoma cells express low levels of CAR and are therefore poorly transduced by Ad5.", "output": {"entities": {"gene": [{"text": "NET", "start": 27, "end": 30}], "disease": [{"text": "neuroblastoma", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We found that the levels of CD4 + T cell activation over time were a strong independent predictor of CD4 + T cell counts while CD8 + T cell activation was more strongly associated with viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 28, "end": 31}], "disease": [{"text": "viremia", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "In support of this hypothesis, ARK5 was induced when an MAFB or c-MAF expression vector was introduced into non-ARK5-expressing colon cancer cells.", "output": {"entities": {"gene": [{"text": "MAF", "start": 56, "end": 59}], "disease": [{"text": "colon cancer", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "In the latter domain have been also identified the few molecular abnormalities described in type 2M which is defined by a decreased platelet-dependent function not caused by the absence of HMW multimers.", "output": {"entities": {"gene": [{"text": "HMW", "start": 189, "end": 192}], "disease": [{"text": "abnormalities", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 14) (p13; q11)--a recurrent translocation in childhood T-cell acute lymphoblastic leukemia (T-ALL)--has very recently been molecularly characterized in one case, which displayed overexpression of the cyclin D2 gene (CCND2).", "output": {"entities": {"gene": [{"text": "CCND2", "start": 227, "end": 232}], "disease": [{"text": "translocation", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The laminin alpha (2) chain (6q2), Fukuyama type congenital muscular dystrophy (9q31-q33) and muscle-eye-brain disease (1p32-p34) loci were all excluded by linkage analysis.", "output": {"entities": {"gene": [{"text": "p34", "start": 125, "end": 128}], "disease": [{"text": "muscle-eye-brain disease", "start": 94, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Examinations included, at the patient level: test for interleukin-1 polymorphism, compliance to supportive periodontal therapy (SPT), mean plaque scores during SPT; at the tooth level: assessment of baseline bone loss (type, amount), tooth type, furcation status and abutment status.", "output": {"entities": {"gene": [{"text": "SPT", "start": 128, "end": 131}], "disease": [{"text": "plaque", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Hence, we studied the virulence factors genes of GAS isolated from the throat of children with pharyngitis and also asymptomatic carriers.", "output": {"entities": {"gene": [{"text": "GAS", "start": 49, "end": 52}], "disease": [{"text": "asymptomatic", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We used in situ hybridization histochemistry to quantify the level of expression of PS2 message in the hippocampus of normal subjects and subjects with mild, moderate or severe AD.", "output": {"entities": {"gene": [{"text": "PS2", "start": 84, "end": 87}], "disease": [{"text": "mild", "start": 152, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Drug response profiling of matched patient-derived xenografts revealed a distinct profile for TCF3-HLF ALL with resistance to conventional chemotherapeutics but sensitivity to glucocorticoids, anthracyclines and agents in clinical development.", "output": {"entities": {"gene": [{"text": "HLF", "start": 99, "end": 102}], "disease": [{"text": "ALL", "start": 103, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HLF", "start": 99, "end": 102}, "tail": {"text": "ALL", "start": 103, "end": 106}}]}}, "schema": []}
{"input": "HIV-1 isolates obtained from plasma and CSF in 28 individuals with varying viral load, CD4 T-cell counts, and with or without AIDS-defining disease were analyzed for the ability to infect NP2. CD4 cells stably expressing a panel of HIV coreceptors (CCR5, CXCR4, CCR3, CXCR6, GPR1, APJ, ChemR23, RDC-1 or BLT1).", "output": {"entities": {"gene": [{"text": "APJ", "start": 281, "end": 284}], "disease": [{"text": "viral load", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Glyoxylase 1 (GLO1) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between depression and anxiety.", "output": {"entities": {"gene": [{"text": "nucleotide-binding protein 1", "start": 32, "end": 60}], "disease": [{"text": "depression", "start": 183, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We paid attention to PIM1, the target gene of both miR-1 and miR-214 miRNAs and which was found overexpressed in mesothelioma cells, and miR-1 and miR-214 mimic transfection of mesothelioma cell lines showed downregulation of PIM1 by western blot analysis.", "output": {"entities": {"gene": [{"text": "PIM1", "start": 21, "end": 25}], "disease": [{"text": "mesothelioma", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Alternative splicing alterations of Ca2 + handling genes are associated with Ca2 + signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 36, "end": 39}], "disease": [{"text": "myotonic dystrophy", "start": 107, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "TH2 cells orchestrate the asthmatic inflammation through the secretion of a series of cytokines, particularly interleukin 4 (IL-4), IL-13, IL-5, and IL-9.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 125, "end": 129}], "disease": [{"text": "inflammation", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Tissues of 78 prostate carcinomas, 32 benign prostate hyperplasias (BPHs), and prostate cell lines (LNCaP, DU145, PC3, BPH-1) were examined with MethyLight polymerase chain reaction at 13 gene loci (APC, CDC6, CTNNB1, E-Cadherin, EDNRB, FGFR2, GSTP1, NAB2, PKCmu, PTGS2, RAR-beta, RASL11A, WWOX).", "output": {"entities": {"gene": [{"text": "RASL11A", "start": 281, "end": 288}], "disease": [{"text": "carcinomas", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We therefore explored the role of CaV1. 3 L-type Ca2 + channels in depression-and anxiety-like behaviours using CaV1. 3-deficient mice (CaV1. 3-/-).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 49, "end": 52}], "disease": [{"text": "anxiety", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Conversely, MMP2 upregulated fractalkine mRNA and protein expression in HRMCs, which led to an increase in chemotaxis and a decrease in monocytic adhesion to HRMCs.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 12, "end": 16}], "disease": [{"text": "adhesion", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Moreover, histone methyltransferases have been shown to be modulated by the oncosuppressors HIC1, MEN1, and HRPT2/CDC73 gene products that characterize tumorigenesis of parathyroid adenomas and carcinomas, respectively.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 92, "end": 96}], "disease": [{"text": "tumorigenesis", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Associations between SNPs and time to tumor recurrence (TTR) were analyzed using Kaplan-Meier curves, log-rank tests, and likelihood-ratio test within logistic or Cox regression model as appropriate.", "output": {"entities": {"gene": [{"text": "TTR", "start": 56, "end": 59}], "disease": [{"text": "regression", "start": 167, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Hereditary predisposition to retinoblastoma is caused by germline mutations in the RB1 gene.", "output": {"entities": {"gene": [{"text": "RB1", "start": 83, "end": 86}], "disease": [{"text": "retinoblastoma", "start": 29, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 83, "end": 86}, "tail": {"text": "retinoblastoma", "start": 29, "end": 43}}]}}, "schema": []}
{"input": "We have also investigated the requirement of cell surface heparan sulfate proteoglycans (HSPGs) as coreceptors for monocyte adhesion to Cyr61.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 136, "end": 141}], "disease": [{"text": "adhesion", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase-2 induces genomic instability, BCL2 expression, doxorubicin resistance, and altered cancer-initiating cell phenotype in MCF7 breast cancer cells.", "output": {"entities": {"gene": [{"text": "doxorubicin resistance", "start": 63, "end": 85}], "disease": [{"text": "genomic instability", "start": 25, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that if p73 plays a role in meningioma carcinogenesis, it must be in a manner different from the Knudson two-hit model.", "output": {"entities": {"gene": [{"text": "p73", "start": 30, "end": 33}], "disease": [{"text": "hit", "start": 131, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The search for the cause of chronic hepatitis among individuals with non-A to G hepatitis has led to the discovery of a post-transfusion hepatitis-related DNA virus, designated TT virus (TTV), which, based on viral sequences, belongs to a new virus family.", "output": {"entities": {"gene": [{"text": "TTV", "start": 187, "end": 190}], "disease": [{"text": "chronic hepatitis", "start": 28, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Every patient was screened for testosterone and 451 were screened for prolactin on the basis of low sexual desire, gynecomastia or testosterone less than 4 ng./ml.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 70, "end": 79}], "disease": [{"text": "gynecomastia", "start": 115, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin", "start": 70, "end": 79}, "tail": {"text": "gynecomastia", "start": 115, "end": 127}}]}}, "schema": []}
{"input": "The PGL cases studied included 26 (53%) cases of diffuse large B-cell lymphoma (DLBCL), 12 (25%) cases of extranodal marginal zone lymphoma (MZL), 7 (14%) cases of MZL with large cell transformation (MZL/DLBCL), 1 (2%) case of follicular lymphoma (FL), one (2%) case of Burkitt-like lymphoma (BL), one case (2%) of lymphoplasmacytic lymphoma (LPL) and one case (2%) of peripheral T-cell lymphoma.", "output": {"entities": {"gene": [{"text": "LPL", "start": 343, "end": 346}], "disease": [{"text": "follicular lymphoma", "start": 227, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS.", "output": {"entities": {"gene": [{"text": "UBR1", "start": 141, "end": 145}], "disease": [{"text": "JBS", "start": 189, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBR1", "start": 141, "end": 145}, "tail": {"text": "JBS", "start": 189, "end": 192}}]}}, "schema": []}
{"input": "The G10254A substitution in the mtDNA-ND3 gene is another cause of maternally inherited Leigh syndrome.", "output": {"entities": {"gene": [{"text": "ND3", "start": 38, "end": 41}], "disease": [{"text": "maternally inherited Leigh syndrome", "start": 67, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND3", "start": 38, "end": 41}, "tail": {"text": "maternally inherited Leigh syndrome", "start": 67, "end": 102}}]}}, "schema": []}
{"input": "The results of this study, conducted in a region relatively endemic for HHV 8, support most earlier studies showing a lack of association of HHV 8 infection with LPP and sporadic adult-type MF.", "output": {"entities": {"gene": [{"text": "LPP", "start": 162, "end": 165}], "disease": [{"text": "sporadic", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Our results support the notion that particular features of the c-Myc locus select it as a preferential translocation/amplification target, compared to the endogenous N-myc locus, in Lig4/p53-deficient pro-B cell lymphomas.", "output": {"entities": {"gene": [{"text": "Lig4", "start": 182, "end": 186}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "To determine the signaling mechanisms and the role of NFκB activation in sepsis-induced inflammation, we assessed the levels of IκBα phosphorylation and expression of NFκB-dependent genes in the liver in the two genotypes.", "output": {"entities": {"gene": [{"text": "IκBα", "start": 128, "end": 132}], "disease": [{"text": "sepsis", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families.", "output": {"entities": {"gene": [{"text": "SH3PXD2B", "start": 66, "end": 74}], "disease": [{"text": "FTHS", "start": 84, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH3PXD2B", "start": 66, "end": 74}, "tail": {"text": "FTHS", "start": 84, "end": 88}}]}}, "schema": []}
{"input": "In vitro, using serum starvation-refeeding experiment, our results suggested that SYF2 was upregulated in proliferating HCC cells, and was positive correlated with the expression of PCNA and Cyclin D1.", "output": {"entities": {"gene": [{"text": "Cyclin D1", "start": 191, "end": 200}], "disease": [{"text": "starvation", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 51, "end": 62}], "disease": [{"text": "X-linked hyper IgM syndrome", "start": 118, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD40 ligand", "start": 51, "end": 62}, "tail": {"text": "X-linked hyper IgM syndrome", "start": 118, "end": 145}}]}}, "schema": []}
{"input": "Immunohistochemical patterns of p53 and beta catenin were studied using the natural carcinogenetic model of malignant colorectal sporadic adenoma in 27 formalin-fixed paraffin-embedded polyps.", "output": {"entities": {"gene": [{"text": "p53", "start": 32, "end": 35}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To address this problem, we have undertaken a differential display-based three-pair comparative mRNA profiling of bone-marrow derived mesenchymal stem cells (MSC) and cells isolated by primary MFH, leiomyosarcoma and smooth muscle cells, fibrosarcoma and dermal fibroblasts.", "output": {"entities": {"gene": [{"text": "MSC", "start": 158, "end": 161}], "disease": [{"text": "fibrosarcoma", "start": 238, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Nineteen single nucleotide polymorphisms (SNPs) in 9 genes (AVP, AVPR1A, CRHR1, CRHR2, FKBP5, GAL, GLRA1, NPY1R and NR3C2) showed nominally significant association with heroin addiction.", "output": {"entities": {"gene": [{"text": "AVPR1A", "start": 74, "end": 80}], "disease": [{"text": "addiction", "start": 185, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In advanced atherosclerotic lesions, TIMP4 was detected around necrotic lipid cores, whereas TIMP3 and caspase 3 resided within and around the core regions, indicating different roles for TIMP3 and TIMP4 in inflammation-induced apoptosis and in matrix turnover.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 103, "end": 112}], "disease": [{"text": "inflammation", "start": 207, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We show here that ectopic overexpression of the E3 ubiquitin ligase Rad18 (a central regulator of TLS) induces DNA damage-independent mono-ubiquitination of proliferating cell nuclear antigen (PCNA) (a known Rad18 substrate) and FANCD2.", "output": {"entities": {"gene": [{"text": "Rad18", "start": 68, "end": 73}], "disease": [{"text": "mono", "start": 134, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "On day 1 after ischemia, however, CAD mRNA and protein were significantly increased in the CA1 sector, and then CAD protein immunohistochemically showed a translocation from the perikarya into the nucleus.", "output": {"entities": {"gene": [{"text": "CA1", "start": 91, "end": 94}], "disease": [{"text": "ischemia", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "In the current study, the expression of cyclin D1 has been investigated in a series of 33 patients, with benign (10 patients), borderline (five patients) and malignant (18 patients) ovarian disease.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 40, "end": 49}], "disease": [{"text": "ovarian disease", "start": 182, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "A high proportion (up to 50%) of sporadic epithelial ovarian cancers (EOC) could be deficient in HR due to genetic or epigenetic inactivation of BRCA1/BRCA2 or other HR genes.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 151, "end": 156}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "GRO-alpha gene expression and the presence of GRO-alpha peptide were detected in polyp tissue by means of in situ hybridization, quantitative real-time reverse transcriptase polymerase chain reaction and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 4, "end": 14}], "disease": [{"text": "polyp", "start": 81, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the expression of EWS/FLI-1 or EWS/ERG chimeric genes was found to be generated through a t (11; 22) (q24; q12) or a t (21; 22) (q22; q12) translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 31, "end": 34}], "disease": [{"text": "translocation", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Our goal was to assess the ability of the General Cardiovascular Risk Profile to identify individuals with advanced coronary artery calcification (CAC) and determine whether identification is improved with family history.", "output": {"entities": {"gene": [{"text": "CAC", "start": 147, "end": 150}], "disease": [{"text": "coronary artery calcification", "start": 116, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We have assessed PTEN' s role in the nervous system and find that PTEN is expressed in mouse brain late in development, starting at approximately postnatal day 0.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 17, "end": 21}], "disease": [{"text": "nervous system", "start": 37, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "However, sporadic cases having concomitant EGFR and ALK alterations have been reported.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 43, "end": 47}], "disease": [{"text": "sporadic", "start": 9, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Molecular epidemiology of malaria in Yaounde, Cameroon. VIII. Multiple Plasmodium falciparum infections in symptomatic patients.", "output": {"entities": {"gene": [{"text": "VIII", "start": 56, "end": 60}], "disease": [{"text": "infections", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "miR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-α, CCNJ, and MEGF9.", "output": {"entities": {"gene": [{"text": "ENPEP", "start": 89, "end": 94}], "disease": [{"text": "tumorigenesis", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that MSC-like cells can be isolated from both human gastric tumor (hGC-MSCs) and adjacent non-cancerous tissues (hGCN-MSCs) of the same patient.", "output": {"entities": {"gene": [{"text": "MSC", "start": 20, "end": 23}], "disease": [{"text": "gastric tumor", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We previously reported a conserved haplotype of HLA B52-DR2 and a significantly high frequency of the major histocompatibility complex (MHC) class I chain-related gene A (MICA) transmembrane-short tandem repeat (TM-STR) 6 allele in Japanese patients with ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "STR", "start": 215, "end": 218}], "disease": [{"text": "ulcerative colitis", "start": 255, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "NF-kappaB is a transcription factor involved in expression of many inflammatory cytokines, chemical transmitters, and adhesion molecules.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 0, "end": 9}], "disease": [{"text": "adhesion", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The disabilities in the GJB2 positive group included specific learning disability, apraxia, epileptiform aphasia, attention deficit disorder, global developmental delay, and gross motor delay.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 24, "end": 28}], "disease": [{"text": "apraxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We suggest that t (8; 16) (p11; p13) represents a new consistent abnormality in acute monocytic leukaemia, specifically associated with the differentiated subtype (M5b) and with pronounced phagocytic activity by the leukaemic monocytes.", "output": {"entities": {"gene": [{"text": "p11", "start": 27, "end": 30}], "disease": [{"text": "acute monocytic leukaemia", "start": 80, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "CHK1 inhibitors combined with ionizing radiation showed similar radiosensitization in hypoxic and normoxic cells.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The positive expression of YB-1 was associated with squamous cell carcinoma and large cell carcinoma, compared with adenocarcinomas (p < 0. 01), and higher levels of PCNA-LI were associated with large cell carcinoma compared with adenocarcinomas and squamous cell carcinoma (p < 0. 01).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 166, "end": 170}], "disease": [{"text": "large cell carcinoma", "start": 80, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We used fluorescence in situ hybridization to characterize the molecular position of the breakpoints in a t (8; 13) (p11; q12) reciprocal translocation from a patient with an atypical myeloproliferative disorder.", "output": {"entities": {"gene": [{"text": "p11", "start": 117, "end": 120}], "disease": [{"text": "myeloproliferative disorder", "start": 184, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "We present evidence for extended allelic heterogeneity of CS, with the vast majority of mutations leading to premature termination codons in COH1.", "output": {"entities": {"gene": [{"text": "COH1", "start": 141, "end": 145}], "disease": [{"text": "CS", "start": 58, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COH1", "start": 141, "end": 145}, "tail": {"text": "CS", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "We used Pyrosequencing technology to determine the methylation status of 68 CpG sites in the CpG island of the CDKN2B gene [cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)], frequently hypermethylated in myeloid malignancies, in a series of bone marrow samples from patients with myelodysplasia and myeloid leukemia (n = 82) and from 32 controls.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 176, "end": 180}], "disease": [{"text": "myeloid leukemia", "start": 309, "end": 325}]}, "relations": {}}, "schema": []}
{"input": "A better understanding of the cellular and molecular mechanisms that promote or prevent disturbances in cellular Ca2 + homeostasis during aging may lead to novel approaches for therapeutic intervention in neurological disorders such as Alzheimer' s and Parkinson' s diseases and stroke.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 113, "end": 116}], "disease": [{"text": "stroke", "start": 279, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "We also examined the phenotypic and genetic relationships between EDR lability and speed of habituation of the specific EDR to a nonsignal stimulus.", "output": {"entities": {"gene": [{"text": "EDR", "start": 66, "end": 69}], "disease": [{"text": "habituation", "start": 92, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Genetically modified mice with altered levels of insulin-like growth factor II or receptors mediating insulin-like growth factor II signalling showed abnormalities known to be associated with, or contribute to, ageing and atherosclerosis in humans.", "output": {"entities": {"gene": [{"text": "insulin-like growth factor II", "start": 49, "end": 78}], "disease": [{"text": "ageing", "start": 211, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The proinflammatory lysophosphatidic acid (LPA) is a potent activator of several transcriptional factors and signaling pathways and a potent modulator of genes involved in inflammation, angiogenesis and fibrosis.", "output": {"entities": {"gene": [{"text": "LPA", "start": 43, "end": 46}], "disease": [{"text": "fibrosis", "start": 203, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Early dental epithelial markers PITX2, MSX2, DLX2, RUNX1, and ISL1 were differentially overexpressed in ameloblastoma, indicating its dental identity.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 51, "end": 56}], "disease": [{"text": "ameloblastoma", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Recent epidemiological studies in Japanese-Americans and in Omagari area where HALP subjects with the intron 14 splicing defect of CETP gene are markedly frequent, have demonstrated an increased incidence of coronary atherosclerosis in CETP-deficient patients.", "output": {"entities": {"gene": [{"text": "CETP", "start": 131, "end": 135}], "disease": [{"text": "HALP", "start": 79, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CETP", "start": 131, "end": 135}, "tail": {"text": "HALP", "start": 79, "end": 83}}]}}, "schema": []}
{"input": "Na2S also limited the severity of inflammasome-dependent inflammation in the model of peritonitis (P < 0. 05) in wild-type but not in miR-21 knockout mice.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 134, "end": 140}], "disease": [{"text": "peritonitis", "start": 86, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.", "output": {"entities": {"gene": [{"text": "VPS33B", "start": 13, "end": 19}], "disease": [{"text": "ARC) syndrome", "start": 130, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VPS33B", "start": 13, "end": 19}, "tail": {"text": "ARC) syndrome", "start": 130, "end": 143}}]}}, "schema": []}
{"input": "As an outcome of the translocation, an evolutionarily conserved non-coding VISTA enhancer element from 13q21. 31 is placed within the TRPS1 5' region, 1, 294 bp from the breakpoint.", "output": {"entities": {"gene": [{"text": "TRPS1", "start": 134, "end": 139}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "As well as constituting definitive proof of the spermatogenic role of the DAZ gene product, these findings confirm the high degree of functional conservation between the DAZ and DAZL1 genes, suggesting they may constitute a single target for contraceptive intervention and raising the possibility of therapeutic up-regulation of the DAZL1 gene in infertile men.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 74, "end": 77}], "disease": [{"text": "infertile", "start": 347, "end": 356}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that HIP1 plays a functional role in tumorigenesis and that a positive HIP1 autoantibody test may be an important serum marker of prostate cancer.", "output": {"entities": {"gene": [{"text": "HIP1", "start": 24, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the role of the PTEN/MMAC1 gene in sporadic thyroid tumors, we studied 17 sporadic thyroid tumors, of which 12 were papillary thyroid carcinomas, 1 was follicular thyroid carcinoma, 1 was medullary thyroid carcinoma and 3 were thyroid adenomas.", "output": {"entities": {"gene": [{"text": "MMAC1", "start": 33, "end": 38}], "disease": [{"text": "medullary thyroid carcinoma", "start": 200, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The methylation of the genes Ade-nomatous polyposis coli (APC), glycogen synthase kinase-beta-3 (GSK3beta) and eyes absent 4 (EYA4) was analyzed in 12 colon cancer and 12 normal tissues.", "output": {"entities": {"gene": [{"text": "EYA4", "start": 126, "end": 130}], "disease": [{"text": "polyposis coli", "start": 42, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "On B cells, monocytes, epithelial cells, and smooth muscle cells, IL-13 acts through the IL-13Ralpha1/IL-4Ralpha complex to directly induce activation responses that contribute to atopic disease.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 66, "end": 71}], "disease": [{"text": "atopic", "start": 180, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "We surmise that high circulating levels of interleukin-6 (and ACTH) may have induced haemorrhagic necrosis of the adrenal glands and accounted for the constitutional symptoms.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 62, "end": 66}], "disease": [{"text": "necrosis", "start": 98, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 62, "end": 66}, "tail": {"text": "necrosis", "start": 98, "end": 106}}]}}, "schema": []}
{"input": "Wip1 overexpression induced by adenovirus and E (2) facilitated the proliferation of serum-starved ZR-75-1 cells, with cell proliferation induced by overexpressed Wip1 approximately 25% higher than that induced by E (2).", "output": {"entities": {"gene": [{"text": "Wip1", "start": 0, "end": 4}], "disease": [{"text": "adenovirus", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Since NCAM gene polymorphisms and altered expression of alternatively spliced NCAM isoforms have been associated with bipolar depression and schizophrenia in humans, we hypothesized that reduced expression of NCAM renders individuals more vulnerable to the deleterious effects of stress on behavior.", "output": {"entities": {"gene": [{"text": "NCAM", "start": 6, "end": 10}], "disease": [{"text": "bipolar depression", "start": 118, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NCAM", "start": 6, "end": 10}, "tail": {"text": "bipolar depression", "start": 118, "end": 136}}]}}, "schema": []}
{"input": "The neurological abnormalities in individuals with MCSZ may reflect a role for PNKP in several DNA repair pathways.", "output": {"entities": {"gene": [{"text": "PNKP", "start": 79, "end": 83}], "disease": [{"text": "abnormalities", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Our results contribute to a general understanding of the mechanism how APP is processed by the gamma-secretase module and strongly emphasize the potential of the GxxxG motif in the prevention of sporadic AD as well as FAD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 218, "end": 221}], "disease": [{"text": "sporadic", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "We show that BHD lungs exhibit increased alveolar epithelial cell apoptosis and that Flcn deletion in mouse lung epithelium leads to cell apoptosis, alveolar enlargement, and an impairment of both epithelial barrier and overall lung function.", "output": {"entities": {"gene": [{"text": "Flcn", "start": 85, "end": 89}], "disease": [{"text": "enlargement", "start": 158, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Key words; chromosome 6, translocation, c-Myb, AHI1.", "output": {"entities": {"gene": [{"text": "AHI1", "start": 47, "end": 51}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "A protective association was observed for the slow NAT2 genotype (bladder cancer OR = 0. 3; 95% CI = 0. 1 = 1. 0) after adjustment for cumulative benzidine exposure and lifetime smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 51, "end": 55}], "disease": [{"text": "smoking", "start": 178, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, a significant inverse correlation between VEGF-A and proteinuria, as well as EGF and proteinuria, and a positive correlation between VEGF-A and hypoxia-inducible factor-1alpha mRNA was found.", "output": {"entities": {"gene": [{"text": "EGF", "start": 56, "end": 59}], "disease": [{"text": "proteinuria", "start": 66, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide.", "output": {"entities": {"gene": [{"text": "Choline kinase beta", "start": 0, "end": 19}], "disease": [{"text": "MDCMC", "start": 108, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Choline kinase beta", "start": 0, "end": 19}, "tail": {"text": "MDCMC", "start": 108, "end": 113}}]}}, "schema": []}
{"input": "Transient global ischemia causes selective, delayed death of hippocampal CA1 pyramidal neurons in humans and animals.", "output": {"entities": {"gene": [{"text": "CA1", "start": 73, "end": 76}], "disease": [{"text": "ischemia", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy.", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 13, "end": 18}], "disease": [{"text": "sensory neuropathy", "start": 202, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Several lines of evidence support the notion that the NF1 gene functions as tumor suppressor in these pilocytic astrocytomas and therefore it is tempting to hypothesize that the NF1 gene plays a similar role in sporadic pilocytic astrocytomas.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 54, "end": 62}], "disease": [{"text": "sporadic", "start": 211, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "In summary, the present studies support the hypotheses that PTH-induced bone marrow fibrosis is mediated by PDGF-A via a phosphoinositide 3-kinase-dependent signaling pathway and that increased LOX gene expression plays a key role in abnormal mineralization, a hallmark of chronic hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 108, "end": 114}], "disease": [{"text": "hyperparathyroidism", "start": 281, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the over-expression of telomeric proteins, TRF1, TRF2, TIN2, TERT, and Ku70, and the transposition of the BRCA1 protein may work together to reduce the telomere length in precancerous lesions and gastric cancer, and could contribute to the multistage carcinogenesis of gastric cancer.", "output": {"entities": {"gene": [{"text": "TIN2", "start": 80, "end": 84}], "disease": [{"text": "carcinogenesis", "start": 276, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Recombinant pcDNA3-ALR plasmid DNA (50 or 200 microg/kg) was injected into the rats with acute hepatic injury intravenously, intraperitoneally, or intravenously and intraperitoneally in combination 4 h after CCl (4) administration, respectively.", "output": {"entities": {"gene": [{"text": "ALR", "start": 19, "end": 22}], "disease": [{"text": "CCl (4)", "start": 208, "end": 215}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ALR", "start": 19, "end": 22}, "tail": {"text": "CCl (4)", "start": 208, "end": 215}}]}}, "schema": []}
{"input": "The availability of the SDH gene sequence will enable characterization of the genotypes of sarcosinemia patients with different phenotypes.", "output": {"entities": {"gene": [{"text": "SDH", "start": 24, "end": 27}], "disease": [{"text": "sarcosinemia", "start": 91, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDH", "start": 24, "end": 27}, "tail": {"text": "sarcosinemia", "start": 91, "end": 103}}]}}, "schema": []}
{"input": "The effects of the polymorphisms in OSAHS group on body mass index (BMI), neck circumference (NC), waist/hip rate (WHR), apnea-hypopnea index (AHI), systolic blood pressure (SBP), and diastolic blood pressure (DBP) were analysed.", "output": {"entities": {"gene": [{"text": "DBP", "start": 210, "end": 213}], "disease": [{"text": "systolic blood pressure", "start": 149, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "The role of the tumor suppressor gene p53 and proto-oncogenes mdm-2, waf-1, and bcl-2 in sporadic colorectal carcinoma (CRC) has been well investigated.", "output": {"entities": {"gene": [{"text": "gene p53", "start": 33, "end": 41}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In a sample of British women, body-mass index (BMI), systolic blood pressure, waist-to-hip ratio, serum concentrations of HDL cholesterol and triglycerides, and insulin resistance were all associated with plasma CRP concentration.", "output": {"entities": {"gene": [{"text": "CRP", "start": 212, "end": 215}], "disease": [{"text": "insulin resistance", "start": 161, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells.", "output": {"entities": {"gene": [{"text": "TRPM1", "start": 90, "end": 95}], "disease": [{"text": "CSNB", "start": 21, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPM1", "start": 90, "end": 95}, "tail": {"text": "CSNB", "start": 21, "end": 25}}]}}, "schema": []}
{"input": "We conclude that brain ischemia attenuates PC2 and PC2-mediated neuropeptide processing.", "output": {"entities": {"gene": [{"text": "PC2", "start": 43, "end": 46}], "disease": [{"text": "brain ischemia", "start": 17, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The gastric mucosal immune response is thought to be comprised predominantly of the Th1 type; however, there are limited data regarding the role of IL-18 in Helicobacter pylori-induced inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 84, "end": 87}], "disease": [{"text": "inflammation", "start": 185, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We report a 28-year-old man with EB simplex with a missense keratin 14 mutation p. Arg125Cys associated with clumping of keratin filaments and acantholysis in mainly the spinous cells and basal cells.", "output": {"entities": {"gene": [{"text": "keratin 14", "start": 60, "end": 70}], "disease": [{"text": "acantholysis", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found that overexpressed RIOK2 formed a complex with RIOK1, mTor, and mTor-complex-2 components, and that overexpressed RIOK2 upregulated Akt signaling and promoted tumorigenesis in murine astrocytes.", "output": {"entities": {"gene": [{"text": "RIOK2", "start": 38, "end": 43}], "disease": [{"text": "tumorigenesis", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "In contrast, MVMi did not complete its life cycle in any of the human nervous cells, though it efficiently killed the astrocytic tumor cells by two types of nonproductive infections: (i) normal synthesis of all viral macromolecules with a late defect in infectious virion maturation and release to the medium in U373; and (ii) high levels of accumulation of the full set of viral messenger RNAs and of both nonstructural (NS-1) and structural (VP-1 and VP-2) proteins, under a very low viral DNA amplification, in U87 and SW1088 cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 514, "end": 517}], "disease": [{"text": "nervous", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "HER-2/neu is overexpressed in 25-30% of breast cancers, increasing the aggressiveness of the tumor.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 0, "end": 9}], "disease": [{"text": "aggressiveness", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the MECP2 gene were identified in 64 of 75 (85. 33%) unrelated sporadic Rett syndrome girls.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 17, "end": 22}], "disease": [{"text": "Rett syndrome", "start": 85, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 17, "end": 22}, "tail": {"text": "Rett syndrome", "start": 85, "end": 98}}]}}, "schema": []}
{"input": "Endogenous N/OFQ sustained this response because N/OFQ peptide (NOP) receptor knockout (NOP (-/-)) mice were less susceptible to the hypokinetic action of reserpine than wild-type (NOP (+/+)) animals.", "output": {"entities": {"gene": [{"text": "NOP", "start": 64, "end": 67}], "disease": [{"text": "hypokinetic", "start": 133, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOP", "start": 64, "end": 67}, "tail": {"text": "hypokinetic", "start": 133, "end": 144}}]}}, "schema": []}
{"input": "Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.", "output": {"entities": {"gene": [{"text": "MIM", "start": 16, "end": 19}], "disease": [{"text": "developmental disorder", "start": 33, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined whether this downregulation occurs as the disease progresses from mild to severe stages or whether downregulation of PS2 expression is an early event in AD.", "output": {"entities": {"gene": [{"text": "PS2", "start": 144, "end": 147}], "disease": [{"text": "mild", "start": 93, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "There was a nonsignificant trend for elevated chromogranin A, pancreatic polypeptide, gastric inhibitory polypeptide (but not glucagon) and history of bronchopulmonary carcinoid in MEN 1 patients with elevated glycaemia.", "output": {"entities": {"gene": [{"text": "pancreatic polypeptide", "start": 62, "end": 84}], "disease": [{"text": "carcinoid", "start": 168, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Ten-year follow-up of SpA-related oligoarthritis involving the knee: the presence of psoriasis but not HLA-B27 or baseline MRI bone oedema predicts outcome.", "output": {"entities": {"gene": [{"text": "MRI", "start": 123, "end": 126}], "disease": [{"text": "oligoarthritis", "start": 34, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Allelic distribution of the glycoprotein Ia (alpha2-integrin) C807T/G873A dimorphisms among caucasian venous thrombosis patients and six racial groups.", "output": {"entities": {"gene": [{"text": "glycoprotein Ia", "start": 28, "end": 43}], "disease": [{"text": "venous thrombosis", "start": 102, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The human TTF-1 and Pax-8 gene were transducted into the human thyroid carcinoma (K1 and F133) cells by the recombinant adenovirus, AdTTF-1 and AdPax-8.", "output": {"entities": {"gene": [{"text": "TTF-1", "start": 10, "end": 15}], "disease": [{"text": "adenovirus", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Given the limitations of antenatal ultrasound, this is only feasible by molecular genetics that became possible in 1994 when PKHD1, the locus for ARPKD, was mapped to chromosome 6p.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 125, "end": 130}], "disease": [{"text": "ARPKD", "start": 146, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 125, "end": 130}, "tail": {"text": "ARPKD", "start": 146, "end": 151}}]}}, "schema": []}
{"input": "The chi-square test, multivariable logistic regression analysis with adjustment for covariates, as well as a stepwise forward selection procedure revealed that the C-> T polymorphism (rs1324694) of ERLIN1, the C-> T polymorphism (rs12679196) of TRAPPC9, and the G-> T polymorphism (rs16936752) of WNK2 were significantly (P < 0. 05) associated with the prevalence of intracerebral hemorrhage, and that the A-> G polymorphism (rs3111754) of ITM2C and the A-> G polymorphism (rs10986769) of MAPKAP1 were significantly associated with the prevalence of subarachnoid hemorrhage.", "output": {"entities": {"gene": [{"text": "ERLIN1", "start": 198, "end": 204}], "disease": [{"text": "intracerebral hemorrhage", "start": 367, "end": 391}]}, "relations": {}}, "schema": []}
{"input": "As compared with the normal brain and gliosis, examination of the average weighted scores in gliomas (Grade I, II, III, IV, respectively) showed significant up-regulation of: (i) p53 protein (0. 0 +/-0. 0; 0. 0 +/-0. 0; 0. 9 +/-0. 5; 1. 6 +/-0. 8; 1. 7 +/-0. 5; and 4. 1 +/-0. 8, P < 0. 0001) (ii) hMSH2 (1. 3 +/-0. 3; 1. 5 +/-0. 7; 1. 9 +/-1. 1; 2. 2 +/-0. 5; 4. 1 +/-1. 5; and 4. 7 +/-1. 1, P < 0. 0006), and (iii) BCL-2 (0. 8 +/-0. 5; 1. 9 +/-0. 5; 1. 9 +/-0. 6; 2. 0 +/-0. 6; 4. 4 +/-1. 2; and 4. 6 +/-0. 8, P < 0. 001).", "output": {"entities": {"gene": [{"text": "BCL-2", "start": 417, "end": 422}], "disease": [{"text": "gliosis", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Since eNOS did not associate with VEGF, FLK1 or FLT1, its synthesis seems not to be regulated through VEGF in malignant mesothelioma as has been shown in non-neoplastic endothelial cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 34, "end": 38}], "disease": [{"text": "non-neoplastic", "start": 154, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Real-time RT-PCR, Western blot analysis, and enzyme-linked immunosorbent assay (ELISA) were conducted on CD18 and S2-013 human pancreatic cancer cells treated with apigenin (0-50 μM) in normoxic and hypoxic conditions to evaluate HIF-1α, GLUT-1, and VEGF mRNA and protein expression and secretion.", "output": {"entities": {"gene": [{"text": "CD18", "start": 105, "end": 109}], "disease": [{"text": "hypoxic", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The specific inhibition of LAT1 in oral cancer cells could be a new rationale for anti-cancer therapy.", "output": {"entities": {"gene": [{"text": "LAT1", "start": 27, "end": 31}], "disease": [{"text": "oral cancer", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "These genes include peptidoglycan recognition protein 2, dual specific phosphatase-4, tetraspanin 4, thrombospondin 1, and SPARC-related modular calcium binding protein-2, which were validated by qPCR analysis of 126 human liver specimens, including steatosis, fibrosis, and NASH, alcohol and hepatitis C cirrhosis, and in mouse models of liver inflammation and injury.", "output": {"entities": {"gene": [{"text": "calcium binding protein", "start": 145, "end": 168}], "disease": [{"text": "fibrosis", "start": 261, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations.", "output": {"entities": {"gene": [{"text": "IDS", "start": 93, "end": 96}], "disease": [{"text": "Hunter disease", "start": 25, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDS", "start": 93, "end": 96}, "tail": {"text": "Hunter disease", "start": 25, "end": 39}}]}}, "schema": []}
{"input": "The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.", "output": {"entities": {"gene": [{"text": "EFHC1", "start": 52, "end": 57}], "disease": [{"text": "JME", "start": 160, "end": 163}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFHC1", "start": 52, "end": 57}, "tail": {"text": "JME", "start": 160, "end": 163}}]}}, "schema": []}
{"input": "A panel of pancreas development genes, including GCK, Kir6. 2, PTF1A, PDX-1, HNF-1A, NgN3, SOX17, SOX7, SOX9, INS, HNF1-B and SUR1 plus the GATA4 gene, were screened for characterization of pancreatic agenesis and cardiac defect.", "output": {"entities": {"gene": [{"text": "SOX17", "start": 91, "end": 96}], "disease": [{"text": "cardiac defect", "start": 214, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "Here, two new mutations and three previously reported were found in the PBG-D gene in 12 Argentinean AIP patients corresponding to 5 different families.", "output": {"entities": {"gene": [{"text": "PBG-D", "start": 72, "end": 77}], "disease": [{"text": "AIP", "start": 101, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBG-D", "start": 72, "end": 77}, "tail": {"text": "AIP", "start": 101, "end": 104}}]}}, "schema": []}
{"input": "We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancreatic involvement.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 97, "end": 101}], "disease": [{"text": "cystic fibrosis", "start": 56, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 97, "end": 101}, "tail": {"text": "cystic fibrosis", "start": 56, "end": 71}}]}}, "schema": []}
{"input": "We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 17, "end": 22}], "disease": [{"text": "Jackson-Weiss syndrome", "start": 97, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 17, "end": 22}, "tail": {"text": "Jackson-Weiss syndrome", "start": 97, "end": 119}}]}}, "schema": []}
{"input": "The most interesting finding of this experiment was observed in the infected rabbit with the longest survival time of 105 days: HVP-negative lymphomas surrounded by HVP-induced LPD developed in the larynx and ileum of this rabbit, causing an obstruction of the lumen.", "output": {"entities": {"gene": [{"text": "LPD", "start": 177, "end": 180}], "disease": [{"text": "larynx", "start": 198, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Because RIPK2 and CASP1 are associated with interleukin-1beta production, increased expression might cause increased interleukin-1beta production in the febrile seizure patients.", "output": {"entities": {"gene": [{"text": "RIPK2", "start": 8, "end": 13}], "disease": [{"text": "febrile seizure", "start": 153, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "The clinical manifestations of tuberculous pleuritis, such as fever, exudative pleural effusion, and tissue necrosis, may be due to the effects of elevated local TNF concentrations, produced in response to mycobacterial cell wall components.", "output": {"entities": {"gene": [{"text": "TNF", "start": 162, "end": 165}], "disease": [{"text": "exudative pleural effusion", "start": 69, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The observed extensive miRNA deregulation is likely the result of genome-wide effects of chromosomal instability caused by impaired BRCA1 or BRCA2 function.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 141, "end": 146}], "disease": [{"text": "chromosomal instability", "start": 89, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that HLA-DP rs3077 and rs9277535 were candidate susceptibility markers for cervical cancer in Chinese females.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 29, "end": 35}], "disease": [{"text": "cervical cancer", "start": 99, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.", "output": {"entities": {"gene": [{"text": "SMN", "start": 44, "end": 47}], "disease": [{"text": "cerebellar hypoplasia", "start": 120, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The increased IFN-gamma may support the notion of gangrenous appendicitis as an uncontrolled Th1 mediated inflammatory response and increased IL-10 may speculatively indicate the involvement of cytotoxic cells in the progression to perforation.", "output": {"entities": {"gene": [{"text": "IFN", "start": 14, "end": 17}], "disease": [{"text": "appendicitis", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Ectopic TERE1 expression in J82 bladder cancer cells dramatically inhibited nude mouse tumorigenesis.", "output": {"entities": {"gene": [{"text": "TERE1", "start": 8, "end": 13}], "disease": [{"text": "tumorigenesis", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "IFN regulatory factor-1 is required for the up-regulation of the CD40-NF-kappa B activator 1 axis during airway inflammation.", "output": {"entities": {"gene": [{"text": "activator 1", "start": 81, "end": 92}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The most frequent occurrence of this situation results from the t (11; 22) (q24; q12) chromosome translocation specific for Ewing sarcoma (ES) and related tumors which joins EWS sequences to the 3' half of FLI-1, which encodes a member of the Ets family of transcriptional regulators.", "output": {"entities": {"gene": [{"text": "EWS", "start": 174, "end": 177}], "disease": [{"text": "chromosome translocation", "start": 86, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The aims of the present study were to localize IL-13 mRNA in positive tuberculin reactions and atopic dermatitis lesions using in situ hybridization and to study the possible influence of atopy on the cytokine gene expression in tuberculin reactions.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 47, "end": 52}], "disease": [{"text": "atopy", "start": 188, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "One of 2 HLA-A * 0201-negative individuals inhibited the colony formation of HLA-identical chronic myelogenous leukemia progenitor cells (73% inhibition at 50: 1 effector-target [E/T] ratio), indicating that peptides other than PR1 can induce leukemia-reactive CTLs.", "output": {"entities": {"gene": [{"text": "PR1", "start": 228, "end": 231}], "disease": [{"text": "chronic myelogenous leukemia", "start": 91, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We previously found that glutamate activates normal human T-cells, inducing their adhesion and chemotaxis, via its glutamate receptors of the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) subtype 3 (GluR3) expressed in these cells.", "output": {"entities": {"gene": [{"text": "GluR3", "start": 217, "end": 222}], "disease": [{"text": "adhesion", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To explore the spectrum of p53 gene mutations of sporadic colorectal carcinoma in Guangxi, a Zhuang autonomous region in southern China, we examined exons 2 approximately 11 and exon-intron junctions of p53 gene from 48 patients with sporadic colorectal carcinoma by using single strand conformation polymorphism (SSCP) and DNA direct sequencing.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 27, "end": 35}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The gene for Cx37 was associated with subclinical atherosclerosis in women with type 1 and 2 diabetes and in women with advanced central obesity.", "output": {"entities": {"gene": [{"text": "Cx37", "start": 13, "end": 17}], "disease": [{"text": "central obesity", "start": 129, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Transactivation of inducible nitric oxide synthase gene by Kruppel-like factor 6 regulates apoptosis during influenza A virus infection.", "output": {"entities": {"gene": [{"text": "Kruppel-like factor 6", "start": 59, "end": 80}], "disease": [{"text": "virus infection", "start": 120, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Non-CpG G: C > A: T transitions in the 35 codons are rare in familial cancers (p53, BRCA1, or BRCA2-related), but frequent in sporadic cancers in organs where Li-Fraumeni-related carcinogenesis is common e. g.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 94, "end": 99}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The plasma IL-8 content of the 4-week shunt + PPG group was (148 +/-29) micromol/L, significantly higher than that of the 4 week-shunt group [(118 +/-23) micromol/L, P < 0. 05], and the lung tissue ICAM-1 and MCP-1 levels of the 4-week shunt + PPG group were (27. 3 +/-5. 0) micromol/g and (12. 9 +/-1. 1) micromol/g respectively, both significantly higher than those of the 4-week shunt group [(21. 9 +/-2. 1) and (10. 2 +/-1. 4) micromol/g respectively, both P < 0. 05].", "output": {"entities": {"gene": [{"text": "PPG", "start": 46, "end": 49}], "disease": [{"text": "shunt", "start": 38, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Lipoprotein glomerulopathy (LPG) is a unique entity of renal lipidosis characterized by peculiar histopathologic characteristics of lipoprotein thrombi and an abnormal plasma lipoprotein profile resembling type III hyperlipoproteinemia, with a marked increase in serum apolipoprotein E (apoE) concentrations.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 269, "end": 285}], "disease": [{"text": "lipidosis", "start": 61, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "No significant correlation between clinical features with cytogenetic abnormalities was observed, although patients with IGH translocations were more likely to exhibit papilledema (P = 0. 018).", "output": {"entities": {"gene": [{"text": "IGH", "start": 121, "end": 124}], "disease": [{"text": "papilledema", "start": 168, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The positive HBVDNA granules in chronic hepatitis, liver cirrhosis and the paratumorous tissue were more intense than that in HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 126, "end": 129}], "disease": [{"text": "chronic hepatitis", "start": 32, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Roles of hepatocyte growth factor and mast cells in thrombosis and angiogenesis.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 9, "end": 33}], "disease": [{"text": "thrombosis", "start": 52, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hepatocyte growth factor", "start": 9, "end": 33}, "tail": {"text": "thrombosis", "start": 52, "end": 62}}]}}, "schema": []}
{"input": "High-dose intensity pulse interleukin-2 with famotidine in metastatic kidney cancer.", "output": {"entities": {"gene": [{"text": "interleukin-2", "start": 26, "end": 39}], "disease": [{"text": "kidney cancer", "start": 70, "end": 83}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin-2", "start": 26, "end": 39}, "tail": {"text": "kidney cancer", "start": 70, "end": 83}}]}}, "schema": []}
{"input": "The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients.", "output": {"entities": {"gene": [{"text": "Runx2", "start": 36, "end": 41}], "disease": [{"text": "CCD", "start": 194, "end": 197}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Runx2", "start": 36, "end": 41}, "tail": {"text": "CCD", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "The atrophic process is associated with hind limb paralysis during aging in mice deficient for both NF-M and NF-H proteins.", "output": {"entities": {"gene": [{"text": "NF-M", "start": 100, "end": 104}], "disease": [{"text": "atrophic", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Diabetes-associated variants in CDKAL1, CDKN2B, HHEX/IDE, IGF2BP2, KCNJ11, SLC30A8 and TCF7L2 are associated with physiological alterations leading to T2DM, such as glucose intolerance, impaired insulin secretion or insulin resistance, supporting their role in the disease aetiology.", "output": {"entities": {"gene": [{"text": "CDKN2B", "start": 40, "end": 46}], "disease": [{"text": "glucose intolerance", "start": 165, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "New case of trichorinophalangeal syndrome-like phenotype with a de novo t (2; 8) (p16. 1; q23. 3) translocation which does not disrupt the TRPS1 gene.", "output": {"entities": {"gene": [{"text": "TRPS1 gene", "start": 139, "end": 149}], "disease": [{"text": "translocation", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We have further studied a previously investigated sample of 187 major depressive disorder (MDD) patients, 171 bipolar disorder (BD) patients, and 288 controls, and tried to analyze the interaction between a set of variations of independent genes: the trace amine receptor 6 (rs4305745, rs8192625, rs7452939, rs6903874, and rs6937506) and the heat shock protein 70 (rs562047, rs1061581, rs2227956).", "output": {"entities": {"gene": [{"text": "trace amine receptor 6", "start": 251, "end": 273}], "disease": [{"text": "bipolar disorder", "start": 110, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "trace amine receptor 6", "start": 251, "end": 273}, "tail": {"text": "bipolar disorder", "start": 110, "end": 126}}]}}, "schema": []}
{"input": "The purpose of our investigation was to determine whether expression of AT1a angiotensin receptors (AT1aR) mRNA, V1a vasopressin receptors (V1aR) mRNA and neuronal nitric oxide synthase (NOS1) mRNA is altered in the brain of rats with the renovascular hypertension.", "output": {"entities": {"gene": [{"text": "NOS1", "start": 187, "end": 191}], "disease": [{"text": "renovascular hypertension", "start": 239, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "JPO1/CDCA7 is frequently overexpressed in human cancers, and in particular, its expression is highly elevated in chronic myelogenous leukemia blast crisis as compared with the chronic phase.", "output": {"entities": {"gene": [{"text": "CDCA7", "start": 5, "end": 10}], "disease": [{"text": "chronic myelogenous leukemia", "start": 113, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "VGF level was lower in the spinal cords of sporadic ALS patients than in the control patients.", "output": {"entities": {"gene": [{"text": "VGF", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that hypoxia, caused possibly by microvascular alterations, up-regulates CTGF expression through the activation of HIF-1alpha in dermal fibroblasts of SSc patients, and thereby contributes to the progression of skin fibrosis.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 90, "end": 94}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Anthracyclines are used in over 50% of childhood cancer treatment protocols, but their clinical usefulness is limited by anthracycline-induced cardiotoxicity (ACT) manifesting as asymptomatic cardiac dysfunction and congestive heart failure in up to 57% and 16% of patients, respectively.", "output": {"entities": {"gene": [{"text": "ACT", "start": 159, "end": 162}], "disease": [{"text": "asymptomatic", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "In hyperplasia, MLH1 hypermethylation was similarly observed (11/27 [41%]), but the PTEN mutation was less frequent (5/27 [19%]), observed only in atypical hyperplasias; among the 5 patients with a PTEN mutation, the 2 patients with frameshift mutations had MLH1 hypermethylation, but the 3 patients with missense mutations had unmethylated MLH1.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 16, "end": 20}], "disease": [{"text": "hyperplasia", "start": 3, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Here we show that the membrane protease matriptase initiates Netherton syndrome in a LEKTI-deficient mouse model by premature activation of a pro-kallikrein cascade.", "output": {"entities": {"gene": [{"text": "matriptase", "start": 40, "end": 50}], "disease": [{"text": "Netherton syndrome", "start": 61, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "matriptase", "start": 40, "end": 50}, "tail": {"text": "Netherton syndrome", "start": 61, "end": 79}}]}}, "schema": []}
{"input": "We have extended our LOH analysis of chromosome 3p to include 102 ovarian tumor specimens (29 and 73 samples were previously examined for LOH of chromosome 3p and 17 markers, respectively), using additional polymorphic markers, to assess the coordinate LOH of loci representing the three chromosome 3p minimal regions of deletions [von Hippel-Lindau syndrome (VHL), thyroid hormone receptor beta, and fragile histidine triad (FHIT)] and LOH of other important loci [tumor protein 53 (TP53), breast cancer 1 early onset (BRCA1), breast cancer 2 early onset, retinoblastoma 1, ornithine carbamoyltransferase, and androgen receptor] or somatic mutations in TP53.", "output": {"entities": {"gene": [{"text": "ornithine carbamoyltransferase", "start": 575, "end": 605}], "disease": [{"text": "breast cancer", "start": 491, "end": 504}]}, "relations": {}}, "schema": []}
{"input": "UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in COL6A2 and COL6A3.", "output": {"entities": {"gene": [{"text": "COL6A2", "start": 255, "end": 261}], "disease": [{"text": "UCMD", "start": 0, "end": 4}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL6A2", "start": 255, "end": 261}, "tail": {"text": "UCMD", "start": 0, "end": 4}}]}}, "schema": []}
{"input": "Clinical features associated with anti-Kv1. 4 antibody included bulbar involvement, myasthenic crisis, thymoma, myocarditis, and QT prolongation on electrocardiogram.", "output": {"entities": {"gene": [{"text": "Kv1. 4", "start": 39, "end": 45}], "disease": [{"text": "myocarditis", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS.", "output": {"entities": {"gene": [{"text": "OPG", "start": 135, "end": 138}], "disease": [{"text": "sporadic", "start": 245, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "We report that striatal cells expressing mutant Huntingtin exhibit elevated sensitivity to cadmium toxicity and resistance to manganese toxicity.", "output": {"entities": {"gene": [{"text": "Huntingtin", "start": 48, "end": 58}], "disease": [{"text": "cadmium toxicity", "start": 91, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Huntingtin", "start": 48, "end": 58}, "tail": {"text": "cadmium toxicity", "start": 91, "end": 107}}]}}, "schema": []}
{"input": "Further studies of Perlman syndrome patients with proven DIS3L2 mutations are needed to clarify genotype-phenotype correlation.", "output": {"entities": {"gene": [{"text": "DIS3L2", "start": 57, "end": 63}], "disease": [{"text": "Perlman syndrome", "start": 19, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DIS3L2", "start": 57, "end": 63}, "tail": {"text": "Perlman syndrome", "start": 19, "end": 35}}]}}, "schema": []}
{"input": "To determine a possible involvement of this tumor suppressor gene in sporadic male breast cancer, we examined 30 sporadic male breast carcinomas for loss of heterozygosity (LOH) at two loci on chromosome 13q12-13, a region that spans the BRCA2 locus.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 238, "end": 243}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Two patients presented with mild Dravet syndrome, even though they had a truncating mutation of SCN1A.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 96, "end": 101}], "disease": [{"text": "mild", "start": 28, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia-inducible factor 1 alpha (HIF1α) subunit was found to bind with strong affinity to a hypoxia response element sequence in the promoter of XPA.", "output": {"entities": {"gene": [{"text": "XPA", "start": 146, "end": 149}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Diagnostic usefulness of p16/CDKN2A FISH in distinguishing between sarcomatoid mesothelioma and fibrous pleuritis.", "output": {"entities": {"gene": [{"text": "FISH", "start": 36, "end": 40}], "disease": [{"text": "sarcomatoid mesothelioma", "start": 67, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We found that varicella-zoster (VZV) infected cells had elevated levels of phosphorylated H2AX and phosphorylated ATM and that these levels increased in cells infected with VZV deleted for ORF61 or ORF63, but not deleted for ORF67.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 90, "end": 94}], "disease": [{"text": "zoster", "start": 24, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "This leads us to conclude that the induction of HSP70 by hypoxia and heat shock occurs through the same regulatory HSEs but the activation of the inducible HSP70 gene by heat shock is several-fold higher than by hypoxia.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 48, "end": 53}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 58, "end": 64}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 121, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 58, "end": 64}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 121, "end": 151}}]}}, "schema": []}
{"input": "Human Jurkat CD4 + T cell leukaemia cell line was used throughout the present study.", "output": {"entities": {"gene": [{"text": "CD4", "start": 13, "end": 16}], "disease": [{"text": "leukaemia", "start": 26, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that the induction of detoxicating enzyme expression in HT29 cells exposed to hypoxia results from the induction of both transactivating factors that bind to the AP-1 element and of redox proteins that enhance their affinity for this element.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 185, "end": 189}], "disease": [{"text": "hypoxia", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Thus, the largest clonotypes within the inflamed joints of children with class II-associated arthritis are within the CD4 (+) synovial T cell population, while the dominant clones from children with enthesitis-related arthritis (associated with a class I allele) are within the CD8 (+) synovial T cell population.", "output": {"entities": {"gene": [{"text": "CD8", "start": 278, "end": 281}], "disease": [{"text": "arthritis", "start": 93, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Rag1 (-/-) mice had a reduced prevalence of alveolar hemorrhage compared with B6 (P = 0. 01) congenics.", "output": {"entities": {"gene": [{"text": "Rag1", "start": 0, "end": 4}], "disease": [{"text": "hemorrhage", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The role of the familial breast cancer susceptibility genes, BRCA1 and BRCA2, in the homologous recombination pathway for DNA double-strand break (DSB) repair suggests that the mechanisms involved in DNA DSB repair are of particular etiological importance during breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 71, "end": 76}], "disease": [{"text": "tumorigenesis", "start": 270, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Midkine prevents ventricular remodeling and improves long-term survival after myocardial infarction.", "output": {"entities": {"gene": [{"text": "Midkine", "start": 0, "end": 7}], "disease": [{"text": "ventricular remodeling", "start": 17, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "NPM1 thus has an indirect but significant role in BER in vivo that may also be important for NPM1c + tumorigenesis.", "output": {"entities": {"gene": [{"text": "NPM1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The expression of tumor necrosis factor (TNF)-alpha, interleukin (IL)-6 and-8, and monocyte chemotactic protein (MCP)-1 plus key CC chemokine receptors (CCR1 through 5) and CXC chemokine receptors (CXCR1 through 3) was quantified by real-time polymerase chain reaction (PCR) in gingival or peri-implant biopsies from 135 patients with well-controlled or poorly controlled diabetes and periodontal disease, 65 patients with periodontal disease but otherwise healthy, and 90 systematically and periodontally healthy subjects.", "output": {"entities": {"gene": [{"text": "MCP", "start": 113, "end": 116}], "disease": [{"text": "periodontal disease", "start": 385, "end": 404}]}, "relations": {}}, "schema": []}
{"input": "DHFR and Reduced folate carrier 1 (RFC1) semiquantitative expression was analyzed in 34 primary and metastatic osteosarcoma tissues by real-time polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "RFC1", "start": 35, "end": 39}], "disease": [{"text": "metastatic osteosarcoma", "start": 100, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "We have identified such variants in two patients who had acute myelomonocytic leukemia and acute monocytic leukemia, characterized by a t (9; 11; 18) (p22; q23; q12) and a t (9; 11; 13) (p22; q23; q34), respectively.", "output": {"entities": {"gene": [{"text": "p22", "start": 151, "end": 154}], "disease": [{"text": "acute myelomonocytic leukemia", "start": 57, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We studied 18 patients with aniridia, five of whom had chromosome deletion involving 11p13, two a translocation t (10; 11) (p13; p13) or a der (14; 21) (q10; q10) mat, and 11 had a normal karyotype.", "output": {"entities": {"gene": [{"text": "q10", "start": 153, "end": 156}], "disease": [{"text": "chromosome deletion", "start": 55, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we tested the effect of cessation of glomerular filtration by ureteral obstruction on renal ANG II generation in kidneys with podocyte injury under two experimental conditions.", "output": {"entities": {"gene": [{"text": "ANG", "start": 114, "end": 117}], "disease": [{"text": "ureteral obstruction", "start": 84, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The mRNA and protein expression levels of CISD2 were analyzed in eight cervical cancer cell lines and eight paired cervical cancer tumors by real-time PCR and Western blotting, respectively.", "output": {"entities": {"gene": [{"text": "CISD2", "start": 42, "end": 47}], "disease": [{"text": "cervical cancer", "start": 71, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Amplification was equally prevalent in familial and sporadic tumours, but strikingly rare in BRCA1-and BRCA2-mutated tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 103, "end": 108}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Intrathecal IL-1ra reversed paclitaxel-induced allodynia and intrathecal IL-10 gene therapy both prevented, and progressively reversed, this allodynic state.", "output": {"entities": {"gene": [{"text": "IL-1ra", "start": 12, "end": 18}], "disease": [{"text": "allodynia", "start": 47, "end": 56}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-1ra", "start": 12, "end": 18}, "tail": {"text": "allodynia", "start": 47, "end": 56}}]}}, "schema": []}
{"input": "Malic enzyme 2 and susceptibility to psychosis and mania.", "output": {"entities": {"gene": [{"text": "Malic enzyme 2", "start": 0, "end": 14}], "disease": [{"text": "mania", "start": 51, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Malic enzyme 2", "start": 0, "end": 14}, "tail": {"text": "mania", "start": 51, "end": 56}}]}}, "schema": []}
{"input": "The lipogenic transcription factor ChREBP dissociates hepatic steatosis from insulin resistance in mice and humans.", "output": {"entities": {"gene": [{"text": "ChREBP", "start": 35, "end": 41}], "disease": [{"text": "insulin resistance", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Olaparib, one of the most studied PARPis, has demonstrated activity in BRCA1/2 (MUT +) and BRCA-like sporadic ovarian and breast cancers, and looks promising in prostate and pancreatic cancers.", "output": {"entities": {"gene": [{"text": "MUT", "start": 80, "end": 83}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemically, although only a small part of the epithelium with intestinal metaplasia in 2 of 4 cases with adenomyomatosis showed Reg IV expression, Reg IV was negative in all cases with normal gallbladder (n = 15) and cholelithiasis (n = 13).", "output": {"entities": {"gene": [{"text": "Reg IV", "start": 139, "end": 145}], "disease": [{"text": "cholelithiasis", "start": 228, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Supine resting systolic blood pressure (SBP), diastolic blood pressure (DBP), pulse pressure, and heart rate (HR) were measured by a Dinamap instrument and hemodynamics (stroke volume, cardiac index, and total peripheral resistance [TPR] index) by impedance cardiography.", "output": {"entities": {"gene": [{"text": "DBP", "start": 72, "end": 75}], "disease": [{"text": "systolic blood pressure", "start": 15, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility.", "output": {"entities": {"gene": [{"text": "MIM", "start": 17, "end": 20}], "disease": [{"text": "wide cranial sutures", "start": 111, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In summary, activation of the PI3K/AKT in addition to MAPK/ERK signaling pathways may underlie biological aggressiveness in PA.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 30, "end": 34}], "disease": [{"text": "aggressiveness", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that reductions in KCC2 gene expression may contribute to selective motor deficits and disease progression in vulnerable motoneurons in a mouse model of ALS.", "output": {"entities": {"gene": [{"text": "KCC2", "start": 37, "end": 41}], "disease": [{"text": "motor deficits", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings showed that XEDAR is a putative tumor suppressor that could prevent malignant transformation and tumor progression by regulating apoptosis and anoikis.", "output": {"entities": {"gene": [{"text": "XEDAR", "start": 41, "end": 46}], "disease": [{"text": "tumor progression", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of interferon-induced transmembrane protein 1 (IFITM1) inhibits proliferation, migration, and invasion of glioma cells.", "output": {"entities": {"gene": [{"text": "IFITM1", "start": 57, "end": 63}], "disease": [{"text": "glioma", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in the DNA-binding domain of MAF at 16q23. 1 associated with autosomal dominant \" cerulean cataract \" in an Indian family.", "output": {"entities": {"gene": [{"text": "MAF", "start": 46, "end": 49}], "disease": [{"text": "cerulean cataract", "start": 99, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAF", "start": 46, "end": 49}, "tail": {"text": "cerulean cataract", "start": 99, "end": 116}}]}}, "schema": []}
{"input": "Weak association of the platelet-derived growth factor beta (PDGFB) and PDGF receptor beta (PDGFRB) genes with schizophrenia and schizoaffective disorder.", "output": {"entities": {"gene": [{"text": "PDGFRB", "start": 92, "end": 98}], "disease": [{"text": "schizoaffective disorder", "start": 129, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGFRB", "start": 92, "end": 98}, "tail": {"text": "schizoaffective disorder", "start": 129, "end": 153}}]}}, "schema": []}
{"input": "Given that a similar mechanism has been reported in motor neuron degeneration of amyotrophic lateral sclerosis, abnormalities of RNA/RNA-binding protein complex may play a role in the neuronal degeneration of CMT2P.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 133, "end": 152}], "disease": [{"text": "abnormalities", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our results provide information helpful to an understanding of the APC gene and will also contribute to presymptomatic diagnosis of members in FAP families.", "output": {"entities": {"gene": [{"text": "APC", "start": 67, "end": 70}], "disease": [{"text": "FAP", "start": 143, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APC", "start": 67, "end": 70}, "tail": {"text": "FAP", "start": 143, "end": 146}}]}}, "schema": []}
{"input": "Granulosa and cumulus cells were analyzed for mRNA expression of insulin signaling components (IRS-2 and Glut4), glucose-regulated genes (ChREBP, ACC, and FAS) and insulin-regulated genes (SREBP-1, CD36, and SR-BI) associated with obesity/insulin resistance.", "output": {"entities": {"gene": [{"text": "ChREBP", "start": 138, "end": 144}], "disease": [{"text": "insulin resistance", "start": 239, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "However, SIRT1 prevented endothelial superoxide production, inhibited NF-kappaB signaling, and diminished expression of adhesion molecules.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 70, "end": 79}], "disease": [{"text": "adhesion", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "FMO3 genotype and allele frequency was not significantly associated with auditory hallucinations or delusions.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 0, "end": 4}], "disease": [{"text": "auditory hallucinations", "start": 73, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Compared with myometrial SMC, cells derived from leiomyomas had significantly higher levels of both Wnt5b and sFRP1 transcripts.", "output": {"entities": {"gene": [{"text": "sFRP1", "start": 110, "end": 115}], "disease": [{"text": "leiomyomas", "start": 49, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sFRP1", "start": 110, "end": 115}, "tail": {"text": "leiomyomas", "start": 49, "end": 59}}]}}, "schema": []}
{"input": "The result showed that pulmonary inflammation, pulmonary edema, MPO activity, total cells, neutrophils, macrophages, TNF-α, IL-6, IL-1β and CXCL-10 in BALF were attenuated by NAC.", "output": {"entities": {"gene": [{"text": "MPO", "start": 64, "end": 67}], "disease": [{"text": "pulmonary edema", "start": 47, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The HE (3 to 100 mg kg (-1), p. o., 1 h) inhibited in a graded manner, the hyperalgesia induced by bradykinin (3 nmol/paw) or substance P (10 nmol/paw) in rat paw, with mean ED50 values of 54. 5 and 53. 7 mg kg (-1), respectively.", "output": {"entities": {"gene": [{"text": "substance P", "start": 126, "end": 137}], "disease": [{"text": "hyperalgesia", "start": 75, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance P", "start": 126, "end": 137}, "tail": {"text": "hyperalgesia", "start": 75, "end": 87}}]}}, "schema": []}
{"input": "High-risk lesions that were screen detected by MRI in three women included radial scars and atypical lobular hyperplasia.", "output": {"entities": {"gene": [{"text": "MRI", "start": 47, "end": 50}], "disease": [{"text": "atypical lobular hyperplasia", "start": 92, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Two patients with post-kala-azar dermal leishmaniasis did not have detectable IL-6 in their circulation.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 78, "end": 82}], "disease": [{"text": "kala-azar", "start": 23, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 78, "end": 82}, "tail": {"text": "kala-azar", "start": 23, "end": 32}}]}}, "schema": []}
{"input": "Here we studied the expression of cytokines IL-6, LIF, IL-1beta and TNFalpha and cytokine receptors IL-6R, LIFR and Gp130 in the rat brain after kainic acid-induced status epilepticus using Northern blot analysis and in situ hybridization histochemistry.", "output": {"entities": {"gene": [{"text": "LIF", "start": 50, "end": 53}], "disease": [{"text": "status epilepticus", "start": 165, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "SAMP mice receiving wild-type (AKR) BM developed severe ileitis, whereas SAMP BM did not confer ileitis to WT recipients.", "output": {"entities": {"gene": [{"text": "SAMP", "start": 0, "end": 4}], "disease": [{"text": "ileitis", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "AIM: BIM deletion polymorphism was deemed to be associated with downregulation of BIM, resulting in a decreased apoptosis induced by epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) in EGFR mutation-positive non-small cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "non-small cell lung cancer", "start": 231, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "In the patients with Gilbert' s syndrome, mutations have been reported in the promoter and exons of the uridine diphosphate-glucuronosyl transferase 1 (UGT1A1) gene on chromsome 2q37, which encodes bilirubin uridine diphosphate-glucuronosyltransferase.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 152, "end": 158}], "disease": [{"text": "Gilbert' s syndrome", "start": 21, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UGT1A1", "start": 152, "end": 158}, "tail": {"text": "Gilbert' s syndrome", "start": 21, "end": 40}}]}}, "schema": []}
{"input": "We detected reduced GAP-43 mRNA per neuron in layers III, V and VI of patients with schizophrenia compared with normal controls and patients with bipolar disorder.", "output": {"entities": {"gene": [{"text": "GAP-43", "start": 20, "end": 26}], "disease": [{"text": "bipolar disorder", "start": 146, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAP-43", "start": 20, "end": 26}, "tail": {"text": "bipolar disorder", "start": 146, "end": 162}}]}}, "schema": []}
{"input": "Mechanistic investigations showed how PELP1 interacted with GR to activate Brk expression and demonstrated that physiologic cell stress, including hypoxia, promoted phosphorylation of GR serine 134, initiating a feed-forward signaling loop that contributed significantly to Brk upregulation.", "output": {"entities": {"gene": [{"text": "PELP1", "start": 38, "end": 43}], "disease": [{"text": "hypoxia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The wild type ins-allele of polymorphism NFKB1-94 ins/delATTG was, by multivariate Cox analysis, associated with longer time to treatment failure (p = 0. 01) and overall survival (p = 0. 0084) when tested between treatment arms and in the subgroup of patients treated with interferon-alpha the wild type ins-allele was associated with longer overall survival (p = 0. 002).", "output": {"entities": {"gene": [{"text": "NFKB1", "start": 41, "end": 46}], "disease": [{"text": "arms", "start": 223, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We show here that MOZ is an acetyltransferase of p53 at K120 and K382 and colocalizes with p53 in promyelocytic leukemia (PML) nuclear bodies following cellular stress.", "output": {"entities": {"gene": [{"text": "MOZ", "start": 18, "end": 21}], "disease": [{"text": "promyelocytic leukemia", "start": 98, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that KCTD11 may play an important role in MB tumorigenesis, but do not support the role of HIC1 in this tumor development.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 108, "end": 112}], "disease": [{"text": "tumorigenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "These findings expand the catalog of SLC20A2 mutations identified to date and add dynamic aphasia to the spectrum of neuropsychological deficits reported in IBGC, supporting the use of functional neuroimaging studies for better investigation of genotype-phenotype correlations.", "output": {"entities": {"gene": [{"text": "SLC20A2", "start": 37, "end": 44}], "disease": [{"text": "aphasia", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Here, we report ten novel VMD2 mutations identified in clinically diagnosed BMD patients.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 26, "end": 30}], "disease": [{"text": "BMD", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 26, "end": 30}, "tail": {"text": "BMD", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "CSMD2", "start": 117, "end": 122}], "disease": [{"text": "addiction", "start": 73, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The depletion of CD4 (+) CD25 (+) T cells enhanced thyroiditis induction in the context of either H2E or H2A.", "output": {"entities": {"gene": [{"text": "CD4", "start": 17, "end": 20}], "disease": [{"text": "thyroiditis", "start": 51, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, deficiency in p75 (NTR) limits infarct size after I-R.", "output": {"entities": {"gene": [{"text": "NTR", "start": 32, "end": 35}], "disease": [{"text": "infarct", "start": 44, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Immunostaining showed that MACC1 protein was localized in both nuclei and cytoplasm of HCC cell lines and the nuclear localization of MACC1 protein was associated with increased aggressiveness of HCC in cell lines.", "output": {"entities": {"gene": [{"text": "HCC", "start": 87, "end": 90}], "disease": [{"text": "aggressiveness", "start": 178, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "From microarray analysis, an empirically-derived HNF1B signature was significantly enriched for computationally-predicted targets (with HNF1 binding sites) (P < 0. 03), as well as genes associated with glycogen metabolism, including glucose-6-phophatase, and strikingly the blood clotting cascade, including fibrinogen, prothrombin and factor XIII.", "output": {"entities": {"gene": [{"text": "HNF1B", "start": 49, "end": 54}], "disease": [{"text": "fibrinogen", "start": 308, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "The GSDMB/ORMDL3 gene block, which includes rs7216389, rs4065275, rs4794820, and rs11650680, may be associated with asthma susceptibility in Korean children because it promotes eosinophilic inflammation, which induces bronchial hyperresponsiveness.", "output": {"entities": {"gene": [{"text": "ORMDL3 gene", "start": 10, "end": 21}], "disease": [{"text": "asthma susceptibility", "start": 116, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, arvelexin reduced p65 NF-κB subunit translocation to the nucleus and IκBα degradation in the colonic tissues and in TNF-α-induced HT-29 cells.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 129, "end": 134}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We assessed heat shock protein 60 (hsp60) gene expression as an index of cellular stress and C-reactive protein, erythrocyte sedimentation rate, and fibrinogen as systemic inflammatory markers.", "output": {"entities": {"gene": [{"text": "hsp60", "start": 35, "end": 40}], "disease": [{"text": "fibrinogen", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We therefore constructed Ad [CgA-E1A], a novel replication-selective oncolytic adenovirus, where the chromogranin A (CgA) promoter controls expression of the adenoviral E1A gene.", "output": {"entities": {"gene": [{"text": "chromogranin A", "start": 101, "end": 115}], "disease": [{"text": "adenovirus", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p < 0. 0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups.", "output": {"entities": {"gene": [{"text": "cystatin C", "start": 14, "end": 24}], "disease": [{"text": "creatinine level", "start": 72, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Reduced neutrophil adhesion to infected RPE cells correlated with HCMV-induced up-regulation of constitutive Fas ligand (FasL) expression.", "output": {"entities": {"gene": [{"text": "RPE", "start": 40, "end": 43}], "disease": [{"text": "adhesion", "start": 19, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "To further ascertain whether the detection of t (1; 14) (p22; q32) and t (11; 18) (q21; q21) can be reliably used for the differential diagnosis between lymphoplasmacytic lymphoma and mucosa-associated lymphoid tissue lymphoma, we screened for these translocations by BCL10 immunohistochemistry in 58 lymphoplasmacytic lymphomas and RT-PCR for t (11; 18) (q21; q21) in 40 lymphoplasmacytic lymphomas, respectively.", "output": {"entities": {"gene": [{"text": "p22", "start": 57, "end": 60}], "disease": [{"text": "mucosa-associated lymphoid tissue lymphoma", "start": 184, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Tryptase induced PASMC proliferation and migration as well as enhanced synthesis of fibronectin and matrix metalloproteinase-2 in a PAR-2-and ERK1/2-dependent manner, suggesting that PAR-2-dependent signaling contributes to vascular remodeling by various mechanisms.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 142, "end": 146}], "disease": [{"text": "vascular remodeling", "start": 224, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that the IEGs, egr1 and arc, may significantly contribute to synaptic reorganization induced by the kindling of seizures.", "output": {"entities": {"gene": [{"text": "egr1", "start": 39, "end": 43}], "disease": [{"text": "arc", "start": 48, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In chronic lymphocytic leukemia, important biomarkers include expression of CD38 and ZAP-70, IGVH mutational status, somatic mutations in TP53 and NOTCH1, and abnormalities in chromosomes 11, 12, 13q, and 17.", "output": {"entities": {"gene": [{"text": "CD38", "start": 76, "end": 80}], "disease": [{"text": "abnormalities", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We investigated the effects of CGA on glucose tolerance, insulin sensitivity, hepatic gluconeogenesis, lipid metabolism and skeletal muscle glucose uptake in Lepr (db/db) mice.", "output": {"entities": {"gene": [{"text": "CGA", "start": 31, "end": 34}], "disease": [{"text": "insulin sensitivity", "start": 57, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Hence, misguided signaling through CD5 could lead to autoimmunity.", "output": {"entities": {"gene": [{"text": "CD5", "start": 35, "end": 38}], "disease": [{"text": "autoimmunity", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The better control of bacillary concentrations and pulmonary infiltration observed in C57BL/6 mice from week 3 postinfection could result from their higher RANTES, ICAM-1, and gamma interferon (IFN-gamma) mRNA levels.", "output": {"entities": {"gene": [{"text": "IFN", "start": 194, "end": 197}], "disease": [{"text": "pulmonary infiltration", "start": 51, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We authors believe that this is the first documented case of ACTH-producing Grawitz tumor in the literature.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 61, "end": 65}], "disease": [{"text": "Grawitz tumor", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACTH", "start": 61, "end": 65}, "tail": {"text": "Grawitz tumor", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "Early methylation of p16IK4 and E-cadherin in the chondroid compartment could point to the monoclonal origin of demonstrated dedifferentiated chondrosarcoma.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 32, "end": 42}], "disease": [{"text": "chondrosarcoma", "start": 142, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload.", "output": {"entities": {"gene": [{"text": "GRACILE syndrome", "start": 4, "end": 20}], "disease": [{"text": "metabolic disorder", "start": 40, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Clinical signs of a new canine NCL began in a 9-month-old male Dachshund with vomiting, mental dullness, and loss of previously learned commands and rapidly progressed to include disorientation, ataxia, visual deficits, generalized myoclonic seizures, and death at 12 months of age.", "output": {"entities": {"gene": [{"text": "NCL", "start": 31, "end": 34}], "disease": [{"text": "disorientation", "start": 179, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Split FISH assay using BCL1, BCL3, IGH, and CCND1 probes on lymph node specimens obtained at presentation and at autopsy confirmed that the translocation of BCL3 was solely detected in the lymph node at presentation and detected BCL3 and CCND1 translocations in the specimen at autopsy.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 29, "end": 33}], "disease": [{"text": "translocation", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Incomplete penetrance observed in atrial standstill has been attributed in part to the digenic inheritance of polymorphisms in the atrial-specific gap junction connexin 40 (Cx40) in conjunction with an SCN5A mutation.", "output": {"entities": {"gene": [{"text": "Cx40", "start": 173, "end": 177}], "disease": [{"text": "atrial standstill", "start": 34, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The most strongly associated SNP with SLE was the rs9271366 (odds ratio, OR = 1. 70, p = 5. 6 & #215; 10 (-5)) near the HLA-DRB1 gene.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 120, "end": 128}], "disease": [{"text": "SLE", "start": 38, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DRB1", "start": 120, "end": 128}, "tail": {"text": "SLE", "start": 38, "end": 41}}]}}, "schema": []}
{"input": "Fanconi anemia (FA) is a genetically complex chromosomal instability disorder involving seven or more genes, one of which is BRCA2.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 125, "end": 130}], "disease": [{"text": "chromosomal instability", "start": 45, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: RUNX1 copy numbers seem to be proportional to the age of B-ALL onset and the frequency of CSF involvement, while RUNX1 amplification vs translocation causes aberrant expression of CD7 and CD13, respectively.", "output": {"entities": {"gene": [{"text": "CD13", "start": 201, "end": 205}], "disease": [{"text": "translocation", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In all, 11 distinct chromosome 5 regions with LOH were observed, the most frequent being 5q35. 3 (82%), 5q14. 2 (71%) and 5q33. 1 (69%) in BRCA1 tumors; 5q35. 3 (44%), 5q31. 3 (43%) and 5q13. 3 (43%) in BRCA2 tumors and 5q31. 3 (43%) in sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 203, "end": 208}], "disease": [{"text": "sporadic", "start": 237, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 77, "end": 93}], "disease": [{"text": "Leprechaunism", "start": 18, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 77, "end": 93}, "tail": {"text": "Leprechaunism", "start": 18, "end": 31}}]}}, "schema": []}
{"input": "For each propositus, we sequenced the three exons and intron-exon boundaries of CDKN1C in patients presenting a BWS phenotype, including abdominal wall defects, without 11p15 methylation defects.", "output": {"entities": {"gene": [{"text": "CDKN1C", "start": 80, "end": 86}], "disease": [{"text": "BWS", "start": 112, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDKN1C", "start": 80, "end": 86}, "tail": {"text": "BWS", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "Results showed a high level of expression of RAGE mRNA in the CA1/2 pyramidal cell layer of the hippocampus on the lesioned side of the brain 72 h after a moderate hypoxic-ischemic insult.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 45, "end": 49}], "disease": [{"text": "hypoxic", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "UVSSA was found to be the causative gene for UV (S) S, an unresolved NER deficiency disorder.", "output": {"entities": {"gene": [{"text": "UVSSA", "start": 0, "end": 5}], "disease": [{"text": "UV (S) S", "start": 45, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UVSSA", "start": 0, "end": 5}, "tail": {"text": "UV (S) S", "start": 45, "end": 53}}]}}, "schema": []}
{"input": "CXCL16 correlated with erythrocyte sedimentation rate, C reactive protein, disease activity, serum rheumatoid factor, and RANKL.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 122, "end": 127}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 23, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Biglycan is an important proteoglycan of the extracellular matrix of intervertebral disc (IVD), and its decrease with aging has been correlated with IVD degeneration.", "output": {"entities": {"gene": [{"text": "IVD", "start": 90, "end": 93}], "disease": [{"text": "aging", "start": 118, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism.", "output": {"entities": {"gene": [{"text": "TRAIP", "start": 50, "end": 55}], "disease": [{"text": "microcephalic primordial dwarfism", "start": 112, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRAIP", "start": 50, "end": 55}, "tail": {"text": "microcephalic primordial dwarfism", "start": 112, "end": 145}}]}}, "schema": []}
{"input": "Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.", "output": {"entities": {"gene": [{"text": "acid ceramidase", "start": 25, "end": 40}], "disease": [{"text": "Farber disease", "start": 72, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid ceramidase", "start": 25, "end": 40}, "tail": {"text": "Farber disease", "start": 72, "end": 86}}]}}, "schema": []}
{"input": "To address whether Arg1 could perform similar functions in hypoxic regions of TB granulomas, we used a TB murine granuloma model in which NOS2 is absent.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 138, "end": 142}], "disease": [{"text": "hypoxic", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.", "output": {"entities": {"gene": [{"text": "prothrombin", "start": 50, "end": 61}], "disease": [{"text": "bleeding disorder", "start": 84, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prothrombin", "start": 50, "end": 61}, "tail": {"text": "bleeding disorder", "start": 84, "end": 101}}]}}, "schema": []}
{"input": "Early-onset of sporadic basal-cell carcinoma: germline mutations in the TP53, PTCH, and XPD genes.", "output": {"entities": {"gene": [{"text": "TP53", "start": 72, "end": 76}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The levels of TP53, BRCA1 and TERT were assessed in 55 sporadic colorectal tumors and 37 normal mucosas using tissue microarrays and immunohistochemical detection, and their associations with DNA aneuploidy, levels of mitotic spindle proteins AURKA, AURKB, MAD2L1 and BUB1B and clinicopathological parameters were investigated.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 20, "end": 25}], "disease": [{"text": "aneuploidy", "start": 196, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the CDKI gene CDKN2C/p18 (INK4C) has been also implicated in endocrine neoplasia susceptibility.", "output": {"entities": {"gene": [{"text": "INK4C", "start": 36, "end": 41}], "disease": [{"text": "endocrine neoplasia", "start": 71, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "It can be concluded that NAC diminishes oxidative stress in human testicular cancer cells induced by bleomycin and H (2) O (2).", "output": {"entities": {"gene": [{"text": "NAC", "start": 25, "end": 28}], "disease": [{"text": "testicular cancer", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Loss of Tmem94 in mouse & #160; model generated by CRISPR/Cas9 was embryonic lethal and led to craniofacial and cardiac abnormalities and abnormal neuronal migration pattern, suggesting that this gene is important in craniofacial, cardiovascular, and nervous system development.", "output": {"entities": {"gene": [{"text": "Tmem94", "start": 8, "end": 14}], "disease": [{"text": "cardiac abnormalities", "start": 112, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Tmem94", "start": 8, "end": 14}, "tail": {"text": "cardiac abnormalities", "start": 112, "end": 133}}]}}, "schema": []}
{"input": "Although biliary cirrhosis associated with MDR3 deficiency typically appears before the age of 25 years, in our case, the relatively mild MDR3 dysfunction allowed for a slower progression of the disease with established, well-advanced cirrhosis in the fifth decade of life.", "output": {"entities": {"gene": [{"text": "MDR3", "start": 43, "end": 47}], "disease": [{"text": "MDR3 deficiency", "start": 43, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MDR3", "start": 43, "end": 47}, "tail": {"text": "MDR3 deficiency", "start": 43, "end": 58}}]}}, "schema": []}
{"input": "Gabexate mesilate treatment significantly decreased the elevation of serum transaminase levels and improved liver histology 24 h after the administration of CCl4 (0. 2 ml/100 g rat weight).", "output": {"entities": {"gene": [{"text": "CCl4", "start": 157, "end": 161}], "disease": [{"text": "weight", "start": 181, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Hemoglobin A1c levels, systolic blood pressure (SBP), diastolic blood pressure (DBP) and duration of diabetes, which are potential risk factors for DR, were also compared.", "output": {"entities": {"gene": [{"text": "DBP", "start": 80, "end": 83}], "disease": [{"text": "systolic blood pressure", "start": 23, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We developed video analytic tools that are able to provide precise quantitative measurements of movement abnormalities in order to analyse the effect of these CLCN1 mutations on adult transgenic zebrafish swimming.", "output": {"entities": {"gene": [{"text": "CLCN1", "start": 159, "end": 164}], "disease": [{"text": "abnormalities", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Since the transcription factor aryl hydrocarbon receptor (AhR) regulates the expression of CYP1A2 and the disruption of the AhR gene causes liver injuries, we hypothesized that downregulation of AhR plays an important role in the reduced hepatic CYP1A2 during sepsis.", "output": {"entities": {"gene": [{"text": "AhR gene", "start": 124, "end": 132}], "disease": [{"text": "sepsis", "start": 260, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "One DCC allele is also deleted in 50% of human colon adenomas, but results from protein expression studies have differed as to whether complete loss of DCC expression could occur in colon adenomas, or instead correlates with progression of colon adenoma to carcinoma.", "output": {"entities": {"gene": [{"text": "DCC", "start": 4, "end": 7}], "disease": [{"text": "colon adenoma", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the biosynthetic pathways of the monoamine neurotransmitters that are mediated by TH and GCH might be associated with the CFS clinical findings, because persistence is one of the typical personality traits observed in CFS and patients with major depressive disorder exhibit a higher harm avoidance score.", "output": {"entities": {"gene": [{"text": "TH", "start": 107, "end": 109}], "disease": [{"text": "major depressive disorder", "start": 265, "end": 290}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TH", "start": 107, "end": 109}, "tail": {"text": "major depressive disorder", "start": 265, "end": 290}}]}}, "schema": []}
{"input": "SHBG levels correlated inversely with body mass index and waist circumference (P < 0. 05).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 0, "end": 4}], "disease": [{"text": "body mass index", "start": 38, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Stress-induced p38 mitogen-activated protein kinase activation mediates kappa-opioid-dependent dysphoria.", "output": {"entities": {"gene": [{"text": "p38 mitogen-activated protein kinase", "start": 15, "end": 51}], "disease": [{"text": "dysphoria", "start": 95, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p38 mitogen-activated protein kinase", "start": 15, "end": 51}, "tail": {"text": "dysphoria", "start": 95, "end": 104}}]}}, "schema": []}
{"input": "Despite the loss of p53, BRCA1-deficient tumor cells exhibit increased sensitivity to cisplatin, and patients with BRCA1-associated ovarian carcinomas experience improved outcomes with platinum-based chemotherapy compared with sporadic cases.", "output": {"entities": {"gene": [{"text": "p53", "start": 20, "end": 23}], "disease": [{"text": "sporadic", "start": 227, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Reduced adenosine uptake via human equilibrative nucleoside transporter 1 (hENT1) in human umbilical vein endothelial cells (HUVECs) from gestational diabetes mellitus (GDM) is reversed by insulin by restoring hENT1 expression.", "output": {"entities": {"gene": [{"text": "equilibrative nucleoside transporter 1", "start": 35, "end": 73}], "disease": [{"text": "diabetes mellitus", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "A replication study in an independent Norwegian lung cancer population of multiple cancer histotypes failed to replicate the significant association of BHLHB3 Ala298Val with survival; such association, however, was confirmed by analysis of ADCA only from both populations.", "output": {"entities": {"gene": [{"text": "ADCA", "start": 240, "end": 244}], "disease": [{"text": "lung cancer", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The tumor suppressor gene p53 has an apparent role in breast tumor development in humans, as approximately 30% of sporadic tumors acquire p53 mutations and Li-Fraumeni syndrome patients carrying germ line p53 mutations frequently develop breast tumors at early age.", "output": {"entities": {"gene": [{"text": "p53", "start": 26, "end": 29}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "To explore the association of RAS with the progression from fibrosis to cirrhosis to HCC, liver specimens and serum samples were collected from patients with hepatic fibrosis, cirrhosis and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 85, "end": 88}], "disease": [{"text": "fibrosis", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein A-I (ApoA-I), a primary protein component of high-density lipoprotein (HDL), plays an important role in cholesterol metabolism mediating the formation of HDL and the efflux of cellular cholesterol from macrophage foam cells in arterial walls.", "output": {"entities": {"gene": [{"text": "Apolipoprotein A-I", "start": 0, "end": 18}], "disease": [{"text": "foam cells", "start": 228, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "The highest frequency of Coxsackie infections in the Slovakian child population, and of' diabetic' births and manifestations, found earlier together with maximal risks from HLA II and IA-2A antibodies in late summer and early autumn, is now confirmed also for the insulin gene pattern in diabetic children and even also for their healthy close relatives.", "output": {"entities": {"gene": [{"text": "insulin gene", "start": 264, "end": 276}], "disease": [{"text": "infections", "start": 35, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "To test whether the copy number variations (CNVs) of CD4 + T cell transcription factor genes including T-bet, GATA binding protein 3 (GATA)-3, related orphan receptor C (RORC) and forkhead box protein 3 (FOXP3) are associated with acute anterior uveitis either in the presence or absence of ankylosing spondylitis (AAU + AS +; AAU + AS-).", "output": {"entities": {"gene": [{"text": "CD4", "start": 53, "end": 56}], "disease": [{"text": "ankylosing spondylitis", "start": 291, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "There has been increasing evidence that pseudohypoxia--a phenomenon that we refer to as \" gasping for air \"--along with mitochondrial enzyme dysregulation play a crucial role in tumorigenesis, particularly in several hereditary pheochromocytomas (PHEOs) and paragangliomas (PGLs).", "output": {"entities": {"gene": [{"text": "PGLs", "start": 274, "end": 278}], "disease": [{"text": "tumorigenesis", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome.", "output": {"entities": {"gene": [{"text": "ABC7", "start": 65, "end": 69}], "disease": [{"text": "XLSA/A", "start": 78, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABC7", "start": 65, "end": 69}, "tail": {"text": "XLSA/A", "start": 78, "end": 84}}]}}, "schema": []}
{"input": "Forty-two children, mean age 6. 4 years (range 9 months to 15 years), received an allogeneic BMT for: acute lymphoblastic leukaemia (ALL), n = 17; acute myeloid leukaemia (AML), n = 5; biphenotypic leukaemia, n = 1; myelodysplastic syndrome (MDS), n = 5; chronic granulocytic leukaemia (CGL), n = 1; severe aplastic anaemia (SAA), n = 7; familial erythrophagocytic lymphohistiocytosis (FEL), n = 2; beta thalassaemia major (beta thal), n = 1; and juvenile chronic myeloid leukaemia (JCML), n = 3.", "output": {"entities": {"gene": [{"text": "SAA", "start": 325, "end": 328}], "disease": [{"text": "leukaemia", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "We studied baseline lung function (forced expiratory volume in 1 s (FEV (1)), forced vital capacity (FVC) and FEV (1)/FVC), bronchial hyperresponsiveness, number of positive skin prick tests (SPT) to 11 allergens, serum total immunoglobulin (Ig) E, number of positive specific IgE tests to four allergens and eosinophil counts.", "output": {"entities": {"gene": [{"text": "SPT", "start": 192, "end": 195}], "disease": [{"text": "vital capacity", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We conducted a comprehensive analysis of the APA products in glioblastoma multiforme (GBM, one of the most lethal brain tumors) and normal brain tissues and further developed a computational pipeline, RNAelements (http://sysbio. zju. edu. cn/RNAelements/), using covariance model from known RNA binding protein (RBP) targets acquired by RNA Immunoprecipitation (RIP) analysis.", "output": {"entities": {"gene": [{"text": "APA", "start": 45, "end": 48}], "disease": [{"text": "brain tumors", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The reduced activity of DNA topoisomerase II in ataxia-telangiectasis cells might be explained by amino acid substitutions, small deletions in DNA or by a defect in post-translational modification in these cells.", "output": {"entities": {"gene": [{"text": "DNA topoisomerase II", "start": 24, "end": 44}], "disease": [{"text": "telangiectasis", "start": 55, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "None of the non-neoplastic thyroid tissues, including Graves' thyroid and adenomatous goiter, had diffuse positivity of Runx2.", "output": {"entities": {"gene": [{"text": "Runx2", "start": 120, "end": 125}], "disease": [{"text": "non-neoplastic", "start": 12, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Expression studies of the wildtype and mutant forms of UCP2 should clarify the functional consequences these mutations may have on energy metabolism and body weight regulation.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 55, "end": 59}], "disease": [{"text": "body weight", "start": 153, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The miR-34a/NAMPT axis presents a potential target for treating obesity-and aging-related diseases involving SIRT1 dysfunction like steatosis and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "miR-34a", "start": 4, "end": 11}], "disease": [{"text": "steatosis", "start": 132, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-34a", "start": 4, "end": 11}, "tail": {"text": "steatosis", "start": 132, "end": 141}}]}}, "schema": []}
{"input": "Phosphatase and tensin homologue and pituitary tumor-transforming gene in pituitary adenomas. Clinical-pathologic and immunohistochemical analysis.", "output": {"entities": {"gene": [{"text": "tensin", "start": 16, "end": 22}], "disease": [{"text": "pituitary tumor", "start": 37, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of cyclin D1 function markedly attenuates the proliferation of fibroblasts of colon, esophageal, lung, and pancreatic cancer.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 14, "end": 23}], "disease": [{"text": "esophageal", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 33, "end": 38}], "disease": [{"text": "chromosomal instability", "start": 98, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Mismatch repair (MMR) deficiency is a major mechanism of colorectal tumorigenesis that is observed in 10-15% of sporadic colorectal cancers and those associated with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome.", "output": {"entities": {"gene": [{"text": "MMR", "start": 17, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Previous human and animal studies have implicated XRCC5 in alcohol sensitivity.", "output": {"entities": {"gene": [{"text": "XRCC5", "start": 50, "end": 55}], "disease": [{"text": "alcohol sensitivity", "start": 59, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XRCC5", "start": 50, "end": 55}, "tail": {"text": "alcohol sensitivity", "start": 59, "end": 78}}]}}, "schema": []}
{"input": "In contrast, thymidine phosphorylase mRNA was higher in cancer cells than in cancerous stroma in gastric cancer (p & lt; 0. 0001) and lower in cancer cells than in cancerous stroma in colon cancer (P = 0. 0055).", "output": {"entities": {"gene": [{"text": "thymidine phosphorylase", "start": 13, "end": 36}], "disease": [{"text": "colon cancer", "start": 184, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thymidine phosphorylase", "start": 13, "end": 36}, "tail": {"text": "colon cancer", "start": 184, "end": 196}}]}}, "schema": []}
{"input": "The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical.", "output": {"entities": {"gene": [{"text": "MLL2", "start": 39, "end": 43}], "disease": [{"text": "Kabuki syndrome", "start": 147, "end": 162}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLL2", "start": 39, "end": 43}, "tail": {"text": "Kabuki syndrome", "start": 147, "end": 162}}]}}, "schema": []}
{"input": "Reduced MBP mRNA in schizophrenia replicates findings in other brain regions and is consistent with oligodendrocyte involvement in the disorder.", "output": {"entities": {"gene": [{"text": "MBP", "start": 8, "end": 11}], "disease": [{"text": "schizophrenia", "start": 20, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MBP", "start": 8, "end": 11}, "tail": {"text": "schizophrenia", "start": 20, "end": 33}}]}}, "schema": []}
{"input": "After 7 weeks of diabetes, diabetic mice lacking Vegfa in podocytes exhibited significantly greater proteinuria with profound glomerular scarring and increased apoptosis compared with control mice with diabetes or Vegfa deletion without diabetes.", "output": {"entities": {"gene": [{"text": "Vegfa", "start": 49, "end": 54}], "disease": [{"text": "scarring", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "These data support the hypothesis that PRL phosphatases regulate key pathways involved in tumorigenesis and metastasis and that knockdown of both PRL-1 and PRL-2 is required to disrupt PRL phosphatase function in pancreatic cancer cells.", "output": {"entities": {"gene": [{"text": "PRL-2", "start": 156, "end": 161}], "disease": [{"text": "pancreatic cancer", "start": 213, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate CXCR4-MIF associations occur in vivo in rat bladder and increase in experimental cystitis.", "output": {"entities": {"gene": [{"text": "MIF", "start": 29, "end": 32}], "disease": [{"text": "cystitis", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB.", "output": {"entities": {"gene": [{"text": "Edn3", "start": 146, "end": 150}], "disease": [{"text": "abnormalities", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "A gain of function mutation (Q551-> R) in the IL-4 receptor alpha-chain (IL-4Ralpha) has been found to be associated with atopy in some studies but not others.", "output": {"entities": {"gene": [{"text": "alpha-chain", "start": 60, "end": 71}], "disease": [{"text": "atopy", "start": 122, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Matrigel invasion assay showed that prostate cancer cell line PC-3, containing amplification of the uPA gene, was more sensitive to the urokinase inhibitor, amiloride, than DU145 or LNCaP cell lines, which do not have the amplification.", "output": {"entities": {"gene": [{"text": "uPA", "start": 100, "end": 103}], "disease": [{"text": "prostate cancer", "start": 36, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "uPA", "start": 100, "end": 103}, "tail": {"text": "prostate cancer", "start": 36, "end": 51}}]}}, "schema": []}
{"input": "Potentiation of the malignant phenotype of ARO cells by bcl-2 was not ascribed to altered expression of (i) cytokine/growth factors (IL-4, IL-6, IL-8, IL-10, IL-12, TGF-alpha, TGF-beta), (ii) thyroid-specific transcripts (TG, TPO, TSH-R, PIGF, PAX-8) or (iii) genes influencing tumor aggressiveness [VEGF, HMGI (Y), HMGI-C].", "output": {"entities": {"gene": [{"text": "IL-6", "start": 139, "end": 143}], "disease": [{"text": "aggressiveness", "start": 284, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "The gene expression of the Th1 cytokines IL-12p35, IL-12p40 and IFN-γ and their related transcription factors STAT4, SOCS5 and T-bet, the Th2 cytokines IL-4 and IL-13 and transcription factors STAT6, SOCS3 and GATA-3 and the regulatory cytokines IL-10 and TGF-β and the transcription factor FOXP3 was evaluated in healthy control and atopic dogs.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 161, "end": 166}], "disease": [{"text": "atopic", "start": 334, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.", "output": {"entities": {"gene": [{"text": "galectin-1", "start": 428, "end": 438}], "disease": [{"text": "keloid", "start": 84, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "galectin-1", "start": 428, "end": 438}, "tail": {"text": "keloid", "start": 84, "end": 90}}]}}, "schema": []}
{"input": "The parameters examined included: 1) behavioural and cognitive deficit using the Rotarod, open field and novel object recognition tests; 2) axonal pathology (NF-200); 3) callosal degradation (hematoxylin and eosin stain); 3) dendritic loss (MAP2); 4) expression and localisation of the EPO receptor (EpoR); 5) activation/infiltration of microglia/macrophages (CD68) and production of IL-1β.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 241, "end": 245}], "disease": [{"text": "cognitive deficit", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of ICAM-1 and VCAM-1 in the lung of nitrofen-induced congenital diaphragmatic hernia in rats.", "output": {"entities": {"gene": [{"text": "ICAM-1", "start": 24, "end": 30}], "disease": [{"text": "diaphragmatic hernia", "start": 85, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ICAM-1", "start": 24, "end": 30}, "tail": {"text": "diaphragmatic hernia", "start": 85, "end": 105}}]}}, "schema": []}
{"input": "Burn-CLP injury resulted in a rapid loss of EDL weight, increased ubiquitin-conjugated proteins and increased protein carbonyl groups.", "output": {"entities": {"gene": [{"text": "EDL", "start": 44, "end": 47}], "disease": [{"text": "weight", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Molecular pathology of primary and metastatic ductal pancreatic lesions: analyses of mutations and expression of the p53, mdm-2, and p21/WAF-1 genes in sporadic and familial lesions.", "output": {"entities": {"gene": [{"text": "p53", "start": 117, "end": 120}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In this study, we assessed transcript expression of PinX1, the correlation between PinX1 mRNA level and telomere length and telomerase activity, as well as sequence alteration, in 24 HCCs and their adjacent non-HCC tissues from patients with B viral chronic hepatitis/cirrhosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 183, "end": 186}], "disease": [{"text": "chronic hepatitis", "start": 250, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "CL1-R2 reduced fibroblast growth factor 2-induced neovascularization in the rabbit cornea, in a mouse model of oxygen-induced retinopathy, and in a mouse Matrigel plug assay.", "output": {"entities": {"gene": [{"text": "CL1", "start": 0, "end": 3}], "disease": [{"text": "neovascularization", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that HBc may prevent hepatocytes from TRAIL-induced apoptosis by blocking DR5 expression, which in turn contributes to the development of chronic hepatitis and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 183, "end": 186}], "disease": [{"text": "chronic hepatitis", "start": 161, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The Y1 receptor antagonist blocked the anxiolytic-like effect of neuropeptide Y, while the Y2 receptor antagonist was ineffective. We conclude that neuropeptide Y in the dorsocaudal lateral septum may act as an endogenous anxiolytic and antagonize corticotropin-releasing hormone (stress)-induced anxiety.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 65, "end": 79}], "disease": [{"text": "anxiety", "start": 297, "end": 304}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "neuropeptide Y", "start": 65, "end": 79}, "tail": {"text": "anxiety", "start": 297, "end": 304}}]}}, "schema": []}
{"input": "RNA interference was used to inhibit CDH13 expression in bladder TCC 5637 cells and then analyzed its effects on migration, invasion, adhesion, and proliferation of 5637 cells, as well as MMP2 expression in 5637 cells.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 188, "end": 192}], "disease": [{"text": "adhesion", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "t (8; 13) (p11; q12) translocation in a myeloproliferative disorder associated with a T-cell non-Hodgkin lymphoma.", "output": {"entities": {"gene": [{"text": "p11", "start": 11, "end": 14}], "disease": [{"text": "myeloproliferative disorder", "start": 40, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "To determine the characteristics of B19 viruses involved in such cases, we molecularly cloned a part of the B19 DNAs derived from the sera of three patients with encephalopathy (B19 strains N80, N81 and N82), following amplification by PCR.", "output": {"entities": {"gene": [{"text": "B19", "start": 36, "end": 39}], "disease": [{"text": "encephalopathy", "start": 162, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Recently targeted disruption of Omi/HtrA2 has been found to cause neurodegeneration and a parkinsonian phenotype in mice.", "output": {"entities": {"gene": [{"text": "HtrA2", "start": 36, "end": 41}], "disease": [{"text": "neurodegeneration", "start": 66, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Human: ten patients with heterozygous mutations in DSP without overt structural heart disease (DSP +) and 12 controls with supraventricular tachycardia were studied by high-density electrophysiological mapping of the right ventricle.", "output": {"entities": {"gene": [{"text": "DSP", "start": 51, "end": 54}], "disease": [{"text": "supraventricular tachycardia", "start": 123, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Lymphoepithelial carcinoma (LEC) is a descriptive diagnosis for an undifferentiated carcinoma that has a typical morphologic appearance of large vesicular cells with prominent nucleoli and infiltrating lymphocytes.", "output": {"entities": {"gene": [{"text": "LEC", "start": 28, "end": 31}], "disease": [{"text": "undifferentiated carcinoma", "start": 67, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "There are novel complex heterozygous mutations of PDE6B gene responsible for a sporadic RP patient in China.", "output": {"entities": {"gene": [{"text": "PDE6B gene", "start": 50, "end": 60}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Among the most consistent results of studies of post-mortem brain tissue from schizophrenia patients (SZP) is the finding that in this disease, several genes expressed by GABAergic neurons are downregulated.", "output": {"entities": {"gene": [{"text": "SZP", "start": 102, "end": 105}], "disease": [{"text": "schizophrenia", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Increased levels of soluble Fas ligand in CSF of rapidly progressive HTLV-1-associated myelopathy/tropical spastic paraparesis patients.", "output": {"entities": {"gene": [{"text": "Fas ligand", "start": 28, "end": 38}], "disease": [{"text": "rapidly progressive", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "This integrated approach has led to identification of CACNG2 as a novel neuropathic pain gene affecting pain susceptibility both in mice and humans.", "output": {"entities": {"gene": [{"text": "CACNG2", "start": 54, "end": 60}], "disease": [{"text": "neuropathic pain", "start": 72, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Among them, four proteins with significant up-regulation, namely calcium-binding protein 1, protein disulfide isomerase, mitochondrial aldehyde dehydrogenase precursor, and, glutathione-S-transferase mu1 and six proteins with significant down-regulation, namely catechol-O-methyltransferase, hemoglobin-alpha-2-chain, hemopexin precursor, methionine sulfoxide reductase A, catalase and carbonic anhydrase 3, were identified.", "output": {"entities": {"gene": [{"text": "hemopexin", "start": 318, "end": 327}], "disease": [{"text": "hemoglobin", "start": 292, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "FAM20A mutations associated with enamel renal syndrome.", "output": {"entities": {"gene": [{"text": "FAM20A", "start": 0, "end": 6}], "disease": [{"text": "enamel renal syndrome", "start": 33, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM20A", "start": 0, "end": 6}, "tail": {"text": "enamel renal syndrome", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "Thus, TNF-alpha-induced RANTES expression may have a critical role in cell-mediated liver injury associated with alcoholic hepatitis.", "output": {"entities": {"gene": [{"text": "TNF", "start": 6, "end": 9}], "disease": [{"text": "alcoholic hepatitis", "start": 113, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 6, "end": 9}, "tail": {"text": "alcoholic hepatitis", "start": 113, "end": 132}}]}}, "schema": []}
{"input": "We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3.", "output": {"entities": {"gene": [{"text": "MYBPC3", "start": 117, "end": 123}], "disease": [{"text": "sudden cardiac death", "start": 79, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYBPC3", "start": 117, "end": 123}, "tail": {"text": "sudden cardiac death", "start": 79, "end": 99}}]}}, "schema": []}
{"input": "We have reported that hypoxia affects the hypothalamic-pituitary-adrenal (HPA) axis and behavior by driving the expression of central corticotropin-releasing hormone (CRH) and its receptors in adult mammals, and this effect is modulated by other factors.", "output": {"entities": {"gene": [{"text": "HPA", "start": 74, "end": 77}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Two alternative mechanisms have been proposed to explain the development of testicular tissue in these subjects: (1) translocation of chromosomal material encoding the testicular determination factor (TDF) from the Y to the X chromosome or to an autosome, or (2) an autosomal dominant mutation that permits testicular determination in the absence of TDF.", "output": {"entities": {"gene": [{"text": "TDF", "start": 201, "end": 204}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD following identification of a novel homozygous deletion of exon 7 in MEGF10.", "output": {"entities": {"gene": [{"text": "MEGF10", "start": 188, "end": 194}], "disease": [{"text": "EMARDD", "start": 112, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEGF10", "start": 188, "end": 194}, "tail": {"text": "EMARDD", "start": 112, "end": 118}}]}}, "schema": []}
{"input": "However, in substantial well-controlled studies in C57BL/6 mice challenged with Escherichia coli O111: B4 LPS, we show in this work that significant protection against lethality was conferred neither by an autologous acute-phase response to sterile inflammatory stimuli given to wild-type mice 24 h before LPS challenge, nor by human CRP, whether passively administered or expressed transgenically.", "output": {"entities": {"gene": [{"text": "CRP", "start": 334, "end": 337}], "disease": [{"text": "sterile", "start": 241, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Postoperative primary CHT was found significantly to influence the survival of classic medulloblastoma (CMB) (OS p < 0. 001, EFS p < 0. 001), SHH subgroup (OS p = 0. 020, EFS p = 0. 049) and WNT subgroup (OS p = 0. 003, EFS p = 0. 016) but not in desmoplastic/nodular medulloblastoma (DMB) (OS p = 0. 361, EFS p = 0. 834) and Non-SHH/WNT subgroup (OS p = 0. 127, EFS p = 0. 055).", "output": {"entities": {"gene": [{"text": "CHT", "start": 22, "end": 25}], "disease": [{"text": "desmoplastic/nodular medulloblastoma", "start": 247, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of miR-132 in primary cultures of hippocampal neurons or delivered directly into the CA1 of living rats by means of the lentiviral expression system prior to induction of ischemia afforded robust protection against ischemia-induced neuronal death.", "output": {"entities": {"gene": [{"text": "CA1", "start": 100, "end": 103}], "disease": [{"text": "ischemia", "start": 186, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Immunofluorescence studies showed that VIP increases translocation of the p50 subunit of NF-κB1 to the nucleus, an effect that was inhibited by curcumin.", "output": {"entities": {"gene": [{"text": "p50", "start": 74, "end": 77}], "disease": [{"text": "translocation", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The beat shock protein HSP70 recognizes a specific region of SOX9 hitherto of unknown function which may facilitate the assembly of multi-protein complexes at promoter enhancer regions.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 61, "end": 65}], "disease": [{"text": "shock", "start": 9, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "HCS should be recognized as a distinct thalassemia syndrome with a high risk of life-threatening anemia during febrile illnesses.", "output": {"entities": {"gene": [{"text": "HCS", "start": 0, "end": 3}], "disease": [{"text": "febrile", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Altered imprinting of the H19 and insulin-like growth factor II genes in testicular tumors.", "output": {"entities": {"gene": [{"text": "H19", "start": 26, "end": 29}], "disease": [{"text": "testicular tumors", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The expression of LOX protein in breast cancer, cancer-adjacent normal breast tissues and benign breast tumor were 48. 6% (54/111), 26. 1% (29/111), 20. 0% (4/20), respectively, associations being noted with clinical stage, lymph node metastasis, tumor size and ER, PR, HER2, but not age.", "output": {"entities": {"gene": [{"text": "LOX", "start": 18, "end": 21}], "disease": [{"text": "benign breast tumor", "start": 90, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The CC genotype of rs4307059 located in the region between CDH9 and CDH10 is associated with completed suicide in a Polish cohort.", "output": {"entities": {"gene": [{"text": "CDH10", "start": 68, "end": 73}], "disease": [{"text": "suicide", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Carriers of the NEDD4L salt sensitivity-associated genotype had (mean ± SEM) higher systolic (142 ± 0. 4 vs. 141 ± 0. 1 mmHg, P = 0. 002) and diastolic (86. 0 ± 0. 5 vs. 85. 6 ± 0. 2 mmHg, P = 0. 025) blood pressure and multivariate adjusted hazards ratio (95% confidence interval) of CVD 1. 13 (1. 02-1. 25, P = 0. 018), coronary events 1. 20 (1. 06-1. 37; P = 0. 005) and cardiovascular mortality 1. 17 (0. 99-1. 37; P = 0. 055) than noncarriers but there was no significant difference in the incidence of stroke and total mortality.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 25, "end": 31}], "disease": [{"text": "blood pressure", "start": 210, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Myocardial myostatin mRNA and protein expression were up-regulated in the rat model of volume-overload heart failure.", "output": {"entities": {"gene": [{"text": "myostatin", "start": 11, "end": 20}], "disease": [{"text": "heart failure", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myostatin", "start": 11, "end": 20}, "tail": {"text": "heart failure", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "We sought to determine whether serum RBP4 levels correlate with insulin resistance and change after an intervention that improves insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 37, "end": 41}], "disease": [{"text": "insulin sensitivity", "start": 130, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The rates of IMP3 expression and absence of CK8/18 (44% versus 2%) in BRCA-mutated breast carcinomas was significantly higher than the sporadic breast carcinomas (p = 0. 002 and p < 0. 001).", "output": {"entities": {"gene": [{"text": "IMP3", "start": 13, "end": 17}], "disease": [{"text": "sporadic", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Beta2-adrenergic receptor Thr164Ile (threonine (Thr) is replaced by an isoleucine (Ile) at codon 164) polymorphism was postulated to contribute to lower exercise tolerance and poor prognosis in patients with congestive heart failure.", "output": {"entities": {"gene": [{"text": "Beta2", "start": 0, "end": 5}], "disease": [{"text": "congestive heart failure", "start": 208, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Other associations (p < 0. 05) were observed between factor V and protein C, fibrinogen and protein C, factor V and antithrombin III and protein C and antithrombin III.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 116, "end": 132}], "disease": [{"text": "fibrinogen", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The negative regulators of Wnt pathway-DACH1, DKK1, and WIF1 are methylated in oral and oropharyngeal cancer and WIF1 methylation predicts shorter survival.", "output": {"entities": {"gene": [{"text": "DACH1", "start": 39, "end": 44}], "disease": [{"text": "oropharyngeal cancer", "start": 88, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "ULK4 modulates multiple signalling pathways that include ERK, p38, PKC and JNK, which are involved in stress responses and implicated in schizophrenia.", "output": {"entities": {"gene": [{"text": "JNK", "start": 75, "end": 78}], "disease": [{"text": "schizophrenia", "start": 137, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JNK", "start": 75, "end": 78}, "tail": {"text": "schizophrenia", "start": 137, "end": 150}}]}}, "schema": []}
{"input": "In the present study, we tested the hypothesis that EPO may protect against DOX-induced cardiomyopathy through anti-apoptotic mechanisms both in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "EPO", "start": 52, "end": 55}], "disease": [{"text": "cardiomyopathy", "start": 88, "end": 102}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EPO", "start": 52, "end": 55}, "tail": {"text": "cardiomyopathy", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "We recently demonstrated that phospholipase C (PLC)-delta1 activity in cultured skin fibroblasts obtained from patients with coronary spastic angina (CSA) is enhanced.", "output": {"entities": {"gene": [{"text": "delta1", "start": 52, "end": 58}], "disease": [{"text": "angina", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVE: To clarify the association between the p53 polymorphism at codon 72 and susceptibility to the sporadic keratocystic odontogenic tumor (KCOT).", "output": {"entities": {"gene": [{"text": "p53", "start": 50, "end": 53}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The expression of SERCA mRNA and protein were downregulated (P & lt; 0. 01), but the expression of PLB mRNA and protein were upregulated (P & lt; 0. 01) in MI rats compared with sham-operated rats.", "output": {"entities": {"gene": [{"text": "PLB", "start": 99, "end": 102}], "disease": [{"text": "MI", "start": 156, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLB", "start": 99, "end": 102}, "tail": {"text": "MI", "start": 156, "end": 158}}]}}, "schema": []}
{"input": "In conclusion, SELP and AKT1 polymorphisms may play a role in the risk of cachexia and death in PDAC patients, and should be further evaluated in larger prospective studies.", "output": {"entities": {"gene": [{"text": "SELP", "start": 15, "end": 19}], "disease": [{"text": "cachexia", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Here we report an infant with the characteristic phenotypic features of Wiedemann-Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in POLR3A: c. 1909 + 18G & gt; A; p. (Y637Cfs * 23) and c. 2617C & gt; T; p. (R873 *).", "output": {"entities": {"gene": [{"text": "POLR3A", "start": 168, "end": 174}], "disease": [{"text": "Wiedemann-Rautenstrauch syndrome", "start": 72, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POLR3A", "start": 168, "end": 174}, "tail": {"text": "Wiedemann-Rautenstrauch syndrome", "start": 72, "end": 104}}]}}, "schema": []}
{"input": "However, in multivariate analyses, SHBG levels varied significantly with rs1799941 and rs727428 genotype after controlling for body mass index, non-SHBG-bound testosterone, and homeostasis model for insulin resistance.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 35, "end": 39}], "disease": [{"text": "insulin resistance", "start": 199, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The D allele of the insertion/deletion (I/D) polymorphism of the angiotensin I-converting enzyme (ACE) gene is associated with higher plasma and tissue ACE levels, which enhance the stimulus for neo-intimal hyperplasia.", "output": {"entities": {"gene": [{"text": "ACE", "start": 98, "end": 101}], "disease": [{"text": "intimal hyperplasia", "start": 199, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "These results reveal that CFTR in keratinocytes plays a critical role for the regulation of peripheral nerve function and pruritus sensation, and suggest that Cftr (ΔF508/ΔF508) mice may serve as a novel mouse model that represents NGF-dependent generation of pruritus.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 26, "end": 30}], "disease": [{"text": "pruritus", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We have recently found that all-trans retinoic acid (ATRA) upregulates thrombomodulin (TM) and downregulates tissue factor (TF) expression in acute myelogenous leukemia (AML) M3 cells (NB4) and acute monoblastic leukemia cells (U937) (Koyama et al, Blood 84: 3001, 1994).", "output": {"entities": {"gene": [{"text": "tissue factor", "start": 109, "end": 122}], "disease": [{"text": "acute monoblastic leukemia", "start": 194, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 35, "end": 39}], "disease": [{"text": "cystic fibrosis", "start": 66, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 35, "end": 39}, "tail": {"text": "cystic fibrosis", "start": 66, "end": 81}}]}}, "schema": []}
{"input": "The suicide enzyme O6-methylguanine-DNA methyltransferase (MGMT) removes adducts from the O6-position of guanine to repair DNA damage.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 59, "end": 63}], "disease": [{"text": "suicide", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "IL-4 preferentially colocalized to the tryptase +-chymase + mast cell phenotype (MC (TC)) with MC (TC) cells comprising 93. 3% of cytokine + mast cells in symptomatic SAC (P = 0. 0017), 89. 2% in asymptomatic SAC (P = 0. 0008), and 77. 8% in normal subjects (P = 0. 0472).", "output": {"entities": {"gene": [{"text": "SAC", "start": 167, "end": 170}], "disease": [{"text": "asymptomatic", "start": 196, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In tolerance-acquired CA1 neurons, PLD2 immunoreactivity was upregulated as early as 12 h post-ischemia and was most prominent at 1-3 days, with expression sustained for at least 7 days, as shown by a time course of immunoblotting and measurement of the enzymatic activity of PLD.", "output": {"entities": {"gene": [{"text": "CA1", "start": 22, "end": 25}], "disease": [{"text": "ischemia", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Thyroid and/or thyroid carcinoma-specific expression of SMAP31 is studied using Northern blot and reverse transcriptase-polymerase chain reaction (RT-PCR) on a multiple tissue panel.", "output": {"entities": {"gene": [{"text": "SMAP31", "start": 56, "end": 62}], "disease": [{"text": "carcinoma", "start": 23, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We identified 2 nonsense mutations in the CHS1 gene, the first mutation analysis published of an African-American child with Chediak-Higashi Syndrome.", "output": {"entities": {"gene": [{"text": "CHS1", "start": 42, "end": 46}], "disease": [{"text": "Chediak-Higashi Syndrome", "start": 125, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHS1", "start": 42, "end": 46}, "tail": {"text": "Chediak-Higashi Syndrome", "start": 125, "end": 149}}]}}, "schema": []}
{"input": "We conclude that immunohistochemical positivity for c-erbB-2 is an indicator of aggressiveness in both adenocarcinoma and adenocarcinoma in pleomorphic adenoma of the major salivary glands.", "output": {"entities": {"gene": [{"text": "c-erbB-2", "start": 52, "end": 60}], "disease": [{"text": "aggressiveness", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Although HGF has been described as an isolated finding, it can occur as part of a syndrome, including infrequent endocrine abnormalities such as growth hormone insufficiency.", "output": {"entities": {"gene": [{"text": "HGF", "start": 9, "end": 12}], "disease": [{"text": "abnormalities", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We identified duplications/triplications of a 210, 050 & #160; bp segment containing BHLHA9 in 29 SHFM patients, 11 SHFLD patients, two GWC patients, and 22 clinically normal relatives from 27 of the 51 families examined, as well as in 2 of 1, 000 Japanese controls.", "output": {"entities": {"gene": [{"text": "BHLHA9", "start": 85, "end": 91}], "disease": [{"text": "GWC", "start": 136, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BHLHA9", "start": 85, "end": 91}, "tail": {"text": "GWC", "start": 136, "end": 139}}]}}, "schema": []}
{"input": "Extracellular calcium (Ca2 + o) and its receptor, the Ca2 +-sensing receptor (CaSR), play an important role in prostate physiology, and it has been shown that the deregulation of Ca2 + homeostasis and the overexpression of CaSR are involved in prostate cancer (PCa).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 23, "end": 26}], "disease": [{"text": "prostate cancer", "start": 244, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our study demonstrates that TRPM8 activation by menthol benefits vascular function and blood pressure by inhibiting calcium signaling-mediated RhoA/Rho kinase activation in the vasculature.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 163, "end": 173}], "disease": [{"text": "blood pressure", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The uroporphyrinogen III synthase activity of the propositus was decreased to 26% of the control while his asymptomatic family members had activities between 53-65% of the control.", "output": {"entities": {"gene": [{"text": "uroporphyrinogen III synthase", "start": 4, "end": 33}], "disease": [{"text": "asymptomatic", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Disseminated peritoneal leiomyomatosis (DPL) is a rare condition characterized by scattered smooth muscle nodules over the peritoneal surfaces.", "output": {"entities": {"gene": [{"text": "DPL", "start": 40, "end": 43}], "disease": [{"text": "leiomyomatosis", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Thus, this study did not provide evidence for the contribution of the mGluR4 gene to schizophrenia in the Japanese.", "output": {"entities": {"gene": [{"text": "mGluR4", "start": 70, "end": 76}], "disease": [{"text": "schizophrenia", "start": 85, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR4", "start": 70, "end": 76}, "tail": {"text": "schizophrenia", "start": 85, "end": 98}}]}}, "schema": []}
{"input": "To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1).", "output": {"entities": {"gene": [{"text": "RDS", "start": 56, "end": 59}], "disease": [{"text": "multifocal pattern dystrophy simulating Stargardt disease", "start": 95, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDS", "start": 56, "end": 59}, "tail": {"text": "multifocal pattern dystrophy simulating Stargardt disease", "start": 95, "end": 152}}]}}, "schema": []}
{"input": "Ki-67 expression correlated with inflammation (P = 0. 003) and was expressed in more reactive and atypical lesions than p16 (INK4a) (P = 0. 008).", "output": {"entities": {"gene": [{"text": "INK4a", "start": 125, "end": 130}], "disease": [{"text": "inflammation", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Studies eligible for this meta-analysis were searched in the PubMed, Embase, and CNKI by using the keywords \" tumor necrosis factor \", \" TNF \", \" 252A > G \", \" rs909253 \", \" polymorphism \", \" polymorphisms \", \" variant \", \" SNP \", combined with \" migraine \" or \" migraine with aura (MA) \" or \" migraine without aura (MO) \".", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 110, "end": 131}], "disease": [{"text": "aura", "start": 277, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Ablation of tumor necrosis factor receptor type I (p55) alters oxygen-induced lung injury.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor receptor type I", "start": 12, "end": 49}], "disease": [{"text": "lung injury", "start": 78, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor receptor type I", "start": 12, "end": 49}, "tail": {"text": "lung injury", "start": 78, "end": 89}}]}}, "schema": []}
{"input": "At day 6, animals treated with PAI-1R showed significant reductions in proteinuria (48%, P < 0. 02), glomerular staining for periodic acid-Schiff positive material (33%, P < 0. 02), collagen I (28%, P < 0. 01), collagen III (34%, P < 0. 01), fibronectin (48%, P < 0. 01), and laminin (41%, P < 0. 01), and in collagen I (P < 0. 01) and fibronectin mRNA levels (P < 0. 02).", "output": {"entities": {"gene": [{"text": "PAI", "start": 31, "end": 34}], "disease": [{"text": "proteinuria", "start": 71, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We found that sequestration of miR-21, either before or after hypoxia exposure, diminished chronic hypoxia-induced PH and attenuated hypoxia-induced pulmonary vascular remodeling, likely through relieving the suppressed expression of miR-21 targets in the lungs of hypoxia-exposed mice.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 31, "end": 37}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the relationship of NAT2 genetic polymorphisms and the susceptibility to alcoholic liver cirrhosis (ALC) in Chinese, with special emphasis on the interaction of smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 58, "end": 62}], "disease": [{"text": "smoking", "start": 199, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 152, "end": 164}], "disease": [{"text": "infertile", "start": 85, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We used methylated CpG island amplification microarrays (MCAMs) to study 6458 CpG islands in HCC and adjacent preneoplastic tissues [chronic hepatitis (CH) or liver cirrhosis (LC)] in comparison with normal liver tissues where neither viral infection nor hepatitis has existed.", "output": {"entities": {"gene": [{"text": "HCC", "start": 93, "end": 96}], "disease": [{"text": "chronic hepatitis", "start": 133, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The morphologic and immunohistochemical discrepancies between this intriguing melanotic tumor and other documented renal cell carcinomas bearing identical PSF-TFE3 gene fusion may suggest melanotic Xp11 translocation renal cancer is a distinct entity among the MiT/TFE family neoplasms.", "output": {"entities": {"gene": [{"text": "PSF", "start": 155, "end": 158}], "disease": [{"text": "translocation", "start": 203, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "These data point towards the role of MEK1 and JNK inhibitors, in contrast to the PI3K-protein kinase B inhibitors, as potential therapeutic tools for pharmaceutical intervention to diminish hepatic damage by reducing the inflammatory response mediated by IL-1β associated with liver failure.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 37, "end": 41}], "disease": [{"text": "liver failure", "start": 277, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "Conversely, IRAK-4-dependent human TLRs appear to play a redundant role in protective immunity to most infections, at most limited to childhood immunity to some pyogenic bacteria.", "output": {"entities": {"gene": [{"text": "IRAK", "start": 12, "end": 16}], "disease": [{"text": "infections", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset < 50 years of age).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 51, "end": 56}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We aimed to evaluate the possible association among FADS genotypes, desaturase activity, inflammation, and coronary artery disease (CAD).", "output": {"entities": {"gene": [{"text": "FADS", "start": 52, "end": 56}], "disease": [{"text": "inflammation", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that vinpocetine exerts anti-atherogenic effects through inhibition of monocyte adhesion, oxidative stress and inflammatory response, which are mediated by Akt/NF-κB dependent pathway but independent of PDE1 blockade in macrophages.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 182, "end": 187}], "disease": [{"text": "adhesion", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the catalepsy induced by CCK-8-SE was of short duration. With icv. administration only 40 pmole CCK-8-NS induced significant catalepsy. When 0. 2, 0. 4 and 0. 8 mumole/kg sc. doses of CCK-8-NS or 0. 4 pmole icv. dose of CCK-8-SE or CCK-8-NS was given in combination with intraperitoneal (ip.) administration of 1. 0 mg/kg haloperidol, the total duration of catalepsy was suppressed. Finally, CCK-8-SE sc. when given in combination with haloperidol ip., exerted a biphasic, synergistic-antagonistic effect on the haloperidol-induced catalepsy.", "output": {"entities": {"gene": [{"text": "CCK", "start": 38, "end": 41}], "disease": [{"text": "catalepsy", "start": 17, "end": 26}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CCK", "start": 38, "end": 41}, "tail": {"text": "catalepsy", "start": 17, "end": 26}}]}}, "schema": []}
{"input": "Rap1GAP is thought of as a putative tumor suppressor gene and plays an important role in human tumor progression including pancreatic cancer, thyroid cancer and melanoma.", "output": {"entities": {"gene": [{"text": "Rap1GAP", "start": 0, "end": 7}], "disease": [{"text": "pancreatic cancer", "start": 123, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rap1GAP", "start": 0, "end": 7}, "tail": {"text": "pancreatic cancer", "start": 123, "end": 140}}]}}, "schema": []}
{"input": "In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.", "output": {"entities": {"gene": [{"text": "NF-L", "start": 34, "end": 38}], "disease": [{"text": "major depression", "start": 122, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF-L", "start": 34, "end": 38}, "tail": {"text": "major depression", "start": 122, "end": 138}}]}}, "schema": []}
{"input": "Patients affected by some of these diseases (AADC deficiency, cystathionuria, homocystinuria, gyrate atrophy, primary hyperoxaluria type 1, xanthurenic aciduria, X-linked sideroblastic anaemia) can benefit, although at different degrees, from the administration of pyridoxine, a PLP precursor.", "output": {"entities": {"gene": [{"text": "PLP", "start": 279, "end": 282}], "disease": [{"text": "xanthurenic aciduria", "start": 140, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The genetic susceptibility of people with certain NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene variants to inflammatory bowel disease is still under investigation.", "output": {"entities": {"gene": [{"text": "CARD4", "start": 68, "end": 73}], "disease": [{"text": "bowel disease", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We found about 80% of highly proliferating DNA aneuploid tumors in the EGF-R positive category, while the EGF-R negative tumors showed a lower frequency of highly proliferating DNA aneuploid tumors (57%), confirming the important role of EGF-R in breast cancer aggressiveness and progression.", "output": {"entities": {"gene": [{"text": "EGF", "start": 71, "end": 74}], "disease": [{"text": "aggressiveness", "start": 261, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Suppression of the genes adenosine triphosphate citrate lyase, acetyl-CoA carboxylase, fatty acid synthase, stearoyl-CoA desaturase 1, or sterol regulatory element-binding protein 1, which are involved in lipogenesis, reduced proliferation, and survival of HCC cell lines and AKT-dependent cell proliferation.", "output": {"entities": {"gene": [{"text": "sterol regulatory element-binding protein 1", "start": 138, "end": 181}], "disease": [{"text": "HCC", "start": 257, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sterol regulatory element-binding protein 1", "start": 138, "end": 181}, "tail": {"text": "HCC", "start": 257, "end": 260}}]}}, "schema": []}
{"input": "We detected independent DSTYK mutations in 2. 3% of patients with congenital abnormalities of the kidney or urinary tract, a finding that suggests that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling.", "output": {"entities": {"gene": [{"text": "DSTYK", "start": 24, "end": 29}], "disease": [{"text": "congenital abnormalities", "start": 66, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Based on our previous findings, we have postulated that glutamate-dependent dysregulation of mTOR-initiated protein synthesis in the PFC may underlie the pathology of MDD.", "output": {"entities": {"gene": [{"text": "mTOR", "start": 93, "end": 97}], "disease": [{"text": "MDD", "start": 167, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mTOR", "start": 93, "end": 97}, "tail": {"text": "MDD", "start": 167, "end": 170}}]}}, "schema": []}
{"input": "Regular aerobic exercise reduced weight by 2. 3 +/-2. 2 kg in MIF and 3. 2 +/-3. 0 kg in HIF.", "output": {"entities": {"gene": [{"text": "MIF", "start": 62, "end": 65}], "disease": [{"text": "weight", "start": 33, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the susceptibility gene for bipolar disorder, PPP2R2C, was found to be associated with the number of perineuronal oligodendrocytes.", "output": {"entities": {"gene": [{"text": "PPP2R2C", "start": 56, "end": 63}], "disease": [{"text": "bipolar disorder", "start": 38, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPP2R2C", "start": 56, "end": 63}, "tail": {"text": "bipolar disorder", "start": 38, "end": 54}}]}}, "schema": []}
{"input": "Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) have been implicated in tumorigenesis of gliomas.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 56, "end": 60}], "disease": [{"text": "tumorigenesis", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "As a result of the translocation, nucleotide base pair additions and deletions were detected at both breakpoint junction fragments, and an evolutionarily conserved VISTA enhancer element from 2p16. 1 was relocated at approximately 325 kb from the TRPS1 promoter.", "output": {"entities": {"gene": [{"text": "TRPS1", "start": 247, "end": 252}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We have reported differences between fibroblasts cultured from normal scars and keloids that include a pattern of glucocorticoid resistance and altered regulation of genes in several signaling pathways associated with fibrosis, including Wnt and IGF/IGF-binding protein 5 (IGFBP5).", "output": {"entities": {"gene": [{"text": "IGFBP5", "start": 273, "end": 279}], "disease": [{"text": "keloids", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Autism (MIM #209850) and schizophrenia (MIM #181500) are both neurodevelopmental psychiatric disorders characterized by a highly genetic component.", "output": {"entities": {"gene": [{"text": "MIM", "start": 8, "end": 11}], "disease": [{"text": "schizophrenia", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "In mice with pressure overload due to ascending aortic constriction, BMP7 significantly reduced RASAL1 promoter methylation, increased RASAL1 expression, and decreased EndMT markers as well as decreased cardiac fibrosis.", "output": {"entities": {"gene": [{"text": "BMP7", "start": 69, "end": 73}], "disease": [{"text": "constriction", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.", "output": {"entities": {"gene": [{"text": "ABHD12", "start": 6, "end": 12}], "disease": [{"text": "PHARC", "start": 26, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABHD12", "start": 6, "end": 12}, "tail": {"text": "PHARC", "start": 26, "end": 31}}]}}, "schema": []}
{"input": "In the few studies directly comparing p53 mutations in BRCA1-linked and sporadic ovarian cancers, data have been contradictory.", "output": {"entities": {"gene": [{"text": "p53", "start": 38, "end": 41}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In the colitis-associated colon cancer (CAC) model, we induced colonic tumors in C57/BL6 mice by azoxymethane and dextran sulfate sodium administration, and evaluated simvastatin' s effect on tumor growth.", "output": {"entities": {"gene": [{"text": "CAC", "start": 40, "end": 43}], "disease": [{"text": "colon cancer", "start": 26, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of SIGIRR in vivo, zymosan-induced arthritis (ZIA) and collagen antibody-induced arthritis (CAIA) were induced in SIGIRR-knockout mice.", "output": {"entities": {"gene": [{"text": "SIGIRR", "start": 27, "end": 33}], "disease": [{"text": "arthritis", "start": 59, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The goal of this study was to improve diagnostic efficiency in the detection of tumor progression in lung cancer patients by using fuzzy logic modeling in combination with a tumor marker panel (Tumor M2-PK, CYFRA 21-1, CEA, NSE and SCC).", "output": {"entities": {"gene": [{"text": "NSE", "start": 224, "end": 227}], "disease": [{"text": "tumor progression", "start": 80, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "However, expression and mutation status of NORE1 and its implication in colorectal tumorigenesis has not been evaluated.", "output": {"entities": {"gene": [{"text": "NORE1", "start": 43, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Activity (transcription) of the genes for MLH1, MSH2 and p53 in sporadic colorectal tumours with micro-satellite instability.", "output": {"entities": {"gene": [{"text": "p53", "start": 57, "end": 60}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Endothelial nitric oxide synthase stimulates aneurysm growth in aged mice.", "output": {"entities": {"gene": [{"text": "Endothelial nitric oxide synthase", "start": 0, "end": 33}], "disease": [{"text": "aneurysm", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Previous studies using animal models of ARF reported that inflammation-induced macrophage recruitment in endothelial cells, along with I/R-induced production of inflammatory cytokines and chemokines in tubule epithelial cells, results in macrophage and neutrophil accumulation, and that both ultimately lead to irreversible kidney injury.", "output": {"entities": {"gene": [{"text": "ARF", "start": 40, "end": 43}], "disease": [{"text": "inflammation", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Some cases of corticotropin-independent macronodular adrenal hyperplasia appear to be genetic, most often with inactivating mutations of ARMC5, a putative tumor-suppressor gene.", "output": {"entities": {"gene": [{"text": "ARMC5", "start": 137, "end": 142}], "disease": [{"text": "corticotropin-independent macronodular adrenal hyperplasia", "start": 14, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARMC5", "start": 137, "end": 142}, "tail": {"text": "corticotropin-independent macronodular adrenal hyperplasia", "start": 14, "end": 72}}]}}, "schema": []}
{"input": "We have examined whether saturated nonesterified fatty acids (NEFA) and insulin, which increase in concentration with developing insulin resistance, can trigger the production of interleukin (IL)-6 and tumor necrosis factor (TNF)-α in human monocytes.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 62, "end": 66}], "disease": [{"text": "insulin resistance", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "DNA was extracted from peripheral blood mononuclear cells (PBMCs) of patients with acute-on-chronic liver hepatitis B-induced liver failure, chronic hepatitis B (CHB) and normal controls, followed by sodium-bisulfite treatment and methylation-specific PCR (MSP) analysis.", "output": {"entities": {"gene": [{"text": "MSP", "start": 257, "end": 260}], "disease": [{"text": "liver failure, chronic", "start": 126, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Additionally, functional analysis supported a tumor-suppressive function for PER3 and IGFALS in vitro.", "output": {"entities": {"gene": [{"text": "IGFALS", "start": 86, "end": 92}], "disease": [{"text": "tumor", "start": 46, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The first aim of this study was to confirm a role for three miRNAs (let-7a, hsa-miR-126, and hsa-miR-145) in the inhibition of proliferation in non-small cell lung cancer (NSCLC) cells.", "output": {"entities": {"gene": [{"text": "hsa-miR-126", "start": 76, "end": 87}], "disease": [{"text": "non-small cell lung cancer", "start": 144, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "hsa-miR-126", "start": 76, "end": 87}, "tail": {"text": "non-small cell lung cancer", "start": 144, "end": 170}}]}}, "schema": []}
{"input": "Pet-1 (-/-) animals had a significantly reduced Vo (2) at all T (b); thus there was no genotype effect on total hypoxia.", "output": {"entities": {"gene": [{"text": "Pet-1", "start": 0, "end": 5}], "disease": [{"text": "hypoxia", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing.", "output": {"entities": {"gene": [{"text": "GATM", "start": 185, "end": 189}], "disease": [{"text": "AGAT deficiency", "start": 79, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATM", "start": 185, "end": 189}, "tail": {"text": "AGAT deficiency", "start": 79, "end": 94}}]}}, "schema": []}
{"input": "Tumor necrosis factor (TNF)-like weak inducer of apoptosis (TWEAK), a TNF superfamily member, induces damage of the epithelial cells (ECs) and production of inflammatory mediaters through its receptor Fn14 in a model of acute colitis.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 60, "end": 65}], "disease": [{"text": "acute colitis", "start": 220, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Severe retinal pigment epithelium and choriocapillaris atrophy developed by 6 years of age, paralleled by a lesser ERG decline.", "output": {"entities": {"gene": [{"text": "ERG", "start": 115, "end": 118}], "disease": [{"text": "choriocapillaris atrophy", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t (12; 22) chromosome translocation, encodes a constitutive transcriptional activator.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "chromosome translocation", "start": 80, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Based on our clinical experience with MEN 1 patients/families we formulated clinical criteria to identify disease gene carriers among patients with apparently sporadic MEN 1-related tumours.", "output": {"entities": {"gene": [{"text": "MEN 1", "start": 38, "end": 43}], "disease": [{"text": "MEN 1", "start": 168, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN 1", "start": 38, "end": 43}, "tail": {"text": "MEN 1", "start": 168, "end": 173}}]}}, "schema": []}
{"input": "These results suggest that the HPS4 gene confers a susceptibility to schizophrenia.", "output": {"entities": {"gene": [{"text": "HPS4", "start": 31, "end": 35}], "disease": [{"text": "schizophrenia", "start": 69, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPS4", "start": 31, "end": 35}, "tail": {"text": "schizophrenia", "start": 69, "end": 82}}]}}, "schema": []}
{"input": "ETs also increase HIF-1alpha expression under both normoxic and hypoxic conditions and its silencing by siRNA desensitizes COX-2 transcriptional activity, PGE (2) and VEGF production, and MMP activation in response to ET-3, implicating, for the first time, HIF-1alpha/COX as downstream targets of ET (B) R signaling leading to invasiveness.", "output": {"entities": {"gene": [{"text": "COX", "start": 123, "end": 126}], "disease": [{"text": "hypoxic", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "t (8; 22) (p11; q11) is a rare but recurrent chromosome translocation that has been reported in 11 cases of myeloproliferative neoplasm or B-acute lymphoblastic leukemia.", "output": {"entities": {"gene": [{"text": "p11", "start": 11, "end": 14}], "disease": [{"text": "myeloproliferative neoplasm", "start": 108, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In addition, we analyzed five patients with BFPP who did not show GPR56 mutation and found that they define a clinically, radiographically, and genetically distinct syndrome that we termed BFPP2.", "output": {"entities": {"gene": [{"text": "GPR56", "start": 66, "end": 71}], "disease": [{"text": "BFPP", "start": 44, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR56", "start": 66, "end": 71}, "tail": {"text": "BFPP", "start": 44, "end": 48}}]}}, "schema": []}
{"input": "We genotyped patients and controls for the HCRTR2 G1246A polymorphism and examined an association with presence or absence of migraine.", "output": {"entities": {"gene": [{"text": "HCRTR2", "start": 43, "end": 49}], "disease": [{"text": "migraine", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that simvastatin could be a potential chemopreventive and therapeutic agent of CAC as well as de novo colon cancer.", "output": {"entities": {"gene": [{"text": "CAC", "start": 101, "end": 104}], "disease": [{"text": "colon cancer", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "It has been widely reported that interleukin-8 (IL-8) is overexpressed in ovarian cyst fluid, ascites, serum, and tumor tissue from ovarian cancer (OVCA) patients, and elevated IL-8 expression correlates with a poor final outcome and chemosensitivity.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 48, "end": 52}], "disease": [{"text": "ascites", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "This was not replicates in the extended sample, we conclude that JARID2 could be a susceptibility gene for SZ.", "output": {"entities": {"gene": [{"text": "JARID2", "start": 65, "end": 71}], "disease": [{"text": "SZ", "start": 107, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JARID2", "start": 65, "end": 71}, "tail": {"text": "SZ", "start": 107, "end": 109}}]}}, "schema": []}
{"input": "A mutational screening of PRRT2 was performed in 5 families, and in 7 sporadic cases affected by BIE.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 26, "end": 31}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We also conclude that blocking & #945; 7nAchR reduces the phosphorylation of STAT3, increases the expression of TNF-& #945; and IL-6, aggravating viral myocarditis.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 128, "end": 132}], "disease": [{"text": "myocarditis", "start": 152, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 128, "end": 132}, "tail": {"text": "myocarditis", "start": 152, "end": 163}}]}}, "schema": []}
{"input": "Log-binomial regression was used to estimate the risk ratios (RRs) of eczema associated with FLG variants at different methylation levels.", "output": {"entities": {"gene": [{"text": "FLG", "start": 93, "end": 96}], "disease": [{"text": "regression", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Increased nuclear accumulation of total XBP-1 protein was observed in steatosis and NASH livers.", "output": {"entities": {"gene": [{"text": "XBP-1", "start": 40, "end": 45}], "disease": [{"text": "steatosis", "start": 70, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XBP-1", "start": 40, "end": 45}, "tail": {"text": "steatosis", "start": 70, "end": 79}}]}}, "schema": []}
{"input": "The same 47-gene set was screened in nerve biopsies, which corroborated the down-regulation of CCL2 and CCL3 in leprosy, but also evidenced the down-regulation of genes involved in mitochondrial metabolism, and the up-regulation of genes involved in lipid metabolism and ubiquitination.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 95, "end": 99}], "disease": [{"text": "leprosy", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "KIR-3DL2 + CD4 + T cells in patients with ankylosing spondylitis were oligoclonal and enriched for markers of T cell activation and for the gut homing receptor CCR9.", "output": {"entities": {"gene": [{"text": "CD4", "start": 11, "end": 14}], "disease": [{"text": "ankylosing spondylitis", "start": 42, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Using both adenovirus-polylysine-DNA complexes and E1A/B-deleted replication-deficient adenoviruses, we have demonstrated a transductional preference of these vectors for the prostate carcinoma cell lines DU 145, LNCaP, and PC-3 over primary human bone marrow cells and the leukemia cell line KG-1.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 224, "end": 228}], "disease": [{"text": "adenovirus", "start": 11, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Chemosensitivity and outcome of BRCA1-and BRCA2-associated ovarian cancer patients after first-line chemotherapy compared with sporadic ovarian cancer patients.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 42, "end": 47}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "This study evaluates the effect of IL-4 on the severity of methacholine-induced AHR associated with mycoplasma pulmonary mycoplasma infection.", "output": {"entities": {"gene": [{"text": "AHR", "start": 80, "end": 83}], "disease": [{"text": "mycoplasma infection", "start": 121, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, the gastric and/or duodenal ulcer control patients and the viral hepatitis cirrhotic patients showed similar allele frequencies for the polymorphic ADH2 and ADH3 genes.", "output": {"entities": {"gene": [{"text": "ADH3", "start": 176, "end": 180}], "disease": [{"text": "duodenal ulcer", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with CODAS syndrome.", "output": {"entities": {"gene": [{"text": "LONP1", "start": 60, "end": 65}], "disease": [{"text": "CODAS syndrome", "start": 165, "end": 179}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LONP1", "start": 60, "end": 65}, "tail": {"text": "CODAS syndrome", "start": 165, "end": 179}}]}}, "schema": []}
{"input": "In Apolipoprotein E (-/-) mice fed on a high fat diet, IL-33 treatment significantly reduced the accumulation of macrophage-derived foam cells in atherosclerotic plaques.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 3, "end": 19}], "disease": [{"text": "foam cells", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The HLA-B57 allele family is associated with slow progression to disease in HIV-1-infected individuals and restricts a potent CD8 response against the p24 protein.", "output": {"entities": {"gene": [{"text": "p24", "start": 151, "end": 154}], "disease": [{"text": "slow progression", "start": 45, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The accumulation of toxic amyloid-beta (Aβ) peptide aggregates in AD brain is thought to trigger the extensive synaptic loss and neurodegeneration linked to cognitive decline, an idea that underlies the' amyloid hypothesis' of AD etiology in both the familal (FAD) and sporadic forms of the disease.", "output": {"entities": {"gene": [{"text": "FAD", "start": 260, "end": 263}], "disease": [{"text": "sporadic", "start": 269, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "The WISE sample comprised 589 white and 122 black women who underwent angiography for suspected ischemia.", "output": {"entities": {"gene": [{"text": "WISE", "start": 4, "end": 8}], "disease": [{"text": "ischemia", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Since endothelial dysfunction is critical for atherosclerosis, we investigated the effects of TZDs, troglitazone (TRO) and pioglitazone (PIO), on endothelial cell growth and secretion of C-type natriuretic peptide (CNP), which we demonstrated as a novel endothelium-derived relaxing peptide, and endothelin (ET), a potent vasoconstrictor, using HAoECs, HCAECs, HUVECs and BAECs.", "output": {"entities": {"gene": [{"text": "TRO", "start": 114, "end": 117}], "disease": [{"text": "atherosclerosis", "start": 46, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Recently, the role of oncogenic K-ras in leukemogenesis was investigated in a novel mouse model utilizing interferon (IFN)-inducible, Cre-mediated expression of oncogenic K-ras from its endogenous promoter.", "output": {"entities": {"gene": [{"text": "IFN", "start": 118, "end": 121}], "disease": [{"text": "leukemogenesis", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum.", "output": {"entities": {"gene": [{"text": "loricrin", "start": 81, "end": 89}], "disease": [{"text": "ichthyosis", "start": 228, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "We identified a homozygous missense variant p. (Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity.", "output": {"entities": {"gene": [{"text": "COL27A1", "start": 62, "end": 69}], "disease": [{"text": "Steel syndrome", "start": 88, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL27A1", "start": 62, "end": 69}, "tail": {"text": "Steel syndrome", "start": 88, "end": 102}}]}}, "schema": []}
{"input": "Myc inactivation or pharmacological suppression of ER stress alleviates fatty liver caused by SIRT7 deficiency.", "output": {"entities": {"gene": [{"text": "SIRT7", "start": 94, "end": 99}], "disease": [{"text": "fatty liver", "start": 72, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT7", "start": 94, "end": 99}, "tail": {"text": "fatty liver", "start": 72, "end": 83}}]}}, "schema": []}
{"input": "Here we studied the role of spinal mGluR5 and mGluR1 in controlling glutamatergic input in a rat model of painful diabetic neuropathy induced by streptozotocin.", "output": {"entities": {"gene": [{"text": "mGluR5", "start": 35, "end": 41}], "disease": [{"text": "painful diabetic neuropathy", "start": 106, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR5", "start": 35, "end": 41}, "tail": {"text": "painful diabetic neuropathy", "start": 106, "end": 133}}]}}, "schema": []}
{"input": "We investigated the gamma-aminobutyric acid A (GABA (A)) delta receptor subunit gene, GABRD, as a susceptibility gene to childhood-onset mood disorders (COMD) because of substantial evidence implicating GABAergic dysfunction in mood disorders and the position of this gene near the 1p36 linkage region.", "output": {"entities": {"gene": [{"text": "GABRD", "start": 86, "end": 91}], "disease": [{"text": "mood disorders", "start": 137, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRD", "start": 86, "end": 91}, "tail": {"text": "mood disorders", "start": 137, "end": 151}}]}}, "schema": []}
{"input": "A population-based (245 cases and 222 controls) and family-based (159 hereditary prostate cancer families) association study was performed to test the hypothesis that sequence variants of hOGG1 increase susceptibility to prostate cancer.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 188, "end": 193}], "disease": [{"text": "hereditary prostate cancer", "start": 70, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Six potentially functional variants, including C-590T in the IL4 gene, C-1055T and Arg130Gln in the IL13 gene, and Ile50Val, Ser478Pro, and Gln551Arg in the IL4RA gene, have been evaluated for their involvement in the control of total serum IgE levels and related atopic disorders, but the results of these studies have been inconsistent.", "output": {"entities": {"gene": [{"text": "IL13 gene", "start": 100, "end": 109}], "disease": [{"text": "atopic", "start": 264, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 41, "end": 46}], "disease": [{"text": "X-linked adrenal hypoplasia congenita", "start": 53, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 41, "end": 46}, "tail": {"text": "X-linked adrenal hypoplasia congenita", "start": 53, "end": 90}}]}}, "schema": []}
{"input": "Serum levels of miR-122 were correlated to the serum activated partial thromboplastin time (APTT) ratios (R = 0. 426, p = 0. 008) and the fibrinogen (FIB; R = 0. 398, p = 0. 008) and antithrombin III (R = 0. 913, p < 0. 001) levels.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 183, "end": 199}], "disease": [{"text": "fibrinogen", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Approximately 85% of Ewing sarcomas harbor the EWS/FLI fusion protein, which arises from a chromosomal translocation, t (11: 22) (q24: q12).", "output": {"entities": {"gene": [{"text": "EWS", "start": 47, "end": 50}], "disease": [{"text": "chromosomal translocation", "start": 91, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "A marked induction of cPLA2 was observed in activated microglia and astrocytes in the CA1 hippocampal region at 72 hours after ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 86, "end": 89}], "disease": [{"text": "ischemia", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Increasing adiposity and insulin resistance may interact to raise CRP levels.", "output": {"entities": {"gene": [{"text": "CRP", "start": 66, "end": 69}], "disease": [{"text": "insulin resistance", "start": 25, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Inheritence of a NOS2 single-nucleotide polymorphism rs2297518 is associated with increased risk of recurrent aphthous stomatitis in a Jordanian population.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 17, "end": 21}], "disease": [{"text": "recurrent aphthous stomatitis", "start": 100, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "A total of 280 HCV-infected patients (70 with mild fibrosis, 70 with advanced fibrosis, 70 cirrhotic patients and 70 HCC patients) and 100 healthy controls were included.", "output": {"entities": {"gene": [{"text": "HCC", "start": 117, "end": 120}], "disease": [{"text": "fibrosis", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine if CFTR function is abnormal in patients with pancreas divisum and recurrent acute pancreatitis (PD/RAP).", "output": {"entities": {"gene": [{"text": "RAP", "start": 139, "end": 142}], "disease": [{"text": "recurrent acute pancreatitis", "start": 106, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 21, "end": 26}], "disease": [{"text": "mild", "start": 187, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY.", "output": {"entities": {"gene": [{"text": "SOX3", "start": 44, "end": 48}], "disease": [{"text": "sex reversal", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "ADAMTS18, located at 16q23. 1, has been reported to be a critical TSG in multiple primary tumors; however, this has not yet been verified in clear cell renal cell carcinoma (ccRCC).", "output": {"entities": {"gene": [{"text": "TSG", "start": 66, "end": 69}], "disease": [{"text": "clear cell renal cell carcinoma", "start": 141, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Compared to those with benign lung disease and healthy controls, Pin1 mRNA was overexpressed in patients with non-small-cell lung cancer, and the levels correlated with lymph node-positive disease and tumor stage.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 65, "end": 69}], "disease": [{"text": "lung disease", "start": 30, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of Nup62 produced a greater reduction of the growth and viability of C4-2 cells than of non-neoplastic RWPE-1 prostatic cells.", "output": {"entities": {"gene": [{"text": "Nup62", "start": 13, "end": 18}], "disease": [{"text": "non-neoplastic", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The differences between FHP and FHN groups on correlations between DBH and peak intoxication or usual drinking history raise speculations that the \" normal \" (FHN) relationship between alcohol intake and plasma DBH activity may be impaired in individuals at high risk (FHP) for the future development of alcoholism.", "output": {"entities": {"gene": [{"text": "DBH", "start": 67, "end": 70}], "disease": [{"text": "alcohol intake", "start": 185, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "We have examined the effects of hypoxia, or more precisely hypoxemia, on the fetal hypothalamic-pituitary-adrenal (HPA) axis and lungs using molecular biology techniques in order to elucidate the underlying mechanisms.", "output": {"entities": {"gene": [{"text": "HPA", "start": 115, "end": 118}], "disease": [{"text": "hypoxia", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In contrast, both selective estrogen receptor modulators (SERMs) significantly modulated circulating IGF-I/IGFBP-3 ratio, cholesterol, fibrinogen and antithrombin III.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 150, "end": 166}], "disease": [{"text": "fibrinogen", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The H syndrome is caused by mutations in the nucleoside transporter hENT3.", "output": {"entities": {"gene": [{"text": "hENT3", "start": 68, "end": 73}], "disease": [{"text": "H syndrome", "start": 4, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hENT3", "start": 68, "end": 73}, "tail": {"text": "H syndrome", "start": 4, "end": 14}}]}}, "schema": []}
{"input": "Recent studies have shown that nuclear accumulation of ATN1 and cleaved fragments with expanded polyQ is the pathological process underlying neurodegeneration in dentatorubral-pallidoluysian atrophy.", "output": {"entities": {"gene": [{"text": "ATN1", "start": 55, "end": 59}], "disease": [{"text": "neurodegeneration", "start": 141, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression with adjustment for age, gender, body mass index, smoking and stress showed no significant difference in terms of IL-6-572 genotypes (P = 0. 058, OR = 0. 523, 95% CI: 0. 268-1. 022).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 134, "end": 138}], "disease": [{"text": "smoking", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to examine: 1) the association between the expression of the insulin receptor (INSR), insulin receptor substrate 1 (IRS1) and 2 (IRS2), insulin inducible gene 1 (INSIG1) and 2 (INSIG2), Ras-related associated with diabetes (RRAD), and brain-specific angiogenesis inhibitor 1-associated protein 2 (BAIAP2) genes in glioma cells and 2) the function of the endoplasmic reticulum stress signaling, mediated by endoplasmic reticulum to nuclei-1 (ERN1) and regulation of these gene expressions by hypoxia and glucose or glutamine deprivation.", "output": {"entities": {"gene": [{"text": "BAIAP2", "start": 327, "end": 333}], "disease": [{"text": "hypoxia", "start": 521, "end": 528}]}, "relations": {}}, "schema": []}
{"input": "Decreasing expression of SHBG may participate in regulation of insulin signaling, leading to a concomitant decrease in expression of relevant insulin signaling components in placental tissue, implying insulin resistance and eventual development of GDM.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 25, "end": 29}], "disease": [{"text": "insulin resistance", "start": 201, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3' HS1 (+ 179 C > T) mutation may have functional consequences in gamma-globin genes expression.", "output": {"entities": {"gene": [{"text": "HS1", "start": 132, "end": 135}], "disease": [{"text": "beta-thalassemia", "start": 71, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The most prominent feature of systemic sclerosis (SSc) and other diseases associated with fibrosis is the prolonged activation of fibroblasts not eliminated by apoptosis, hence characterized by accumulation of more extra cellular matrix (ECM).", "output": {"entities": {"gene": [{"text": "ECM", "start": 238, "end": 241}], "disease": [{"text": "fibrosis", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Our results confirm the hypothesis that NAT2 gene polymorphisms (rs1041983 C/T, rs1801280 T/C, and rs1799930 G/A) in association with long-period active smoking could be the possible individual risk-predicting factors for breast cancer development in the population of Slovak women.", "output": {"entities": {"gene": [{"text": "NAT2 gene", "start": 40, "end": 49}], "disease": [{"text": "smoking", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "To report two Japanese patients who were clinically diagnosed with late-onset and sporadic lattice corneal dystrophy (LCD) in whom a Leu527Arg mutation in the TGFBI gene was found.", "output": {"entities": {"gene": [{"text": "TGFBI gene", "start": 159, "end": 169}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To determine whether p53 inactivation plays a role in paraganglioma tumorigenesis, we investigated a series of 43 paragangliomas from 41 patients (of whom 24 patients harbored a germline SDHD mutation) for mutations in p53 exons 5-8 by PCR-SSCP.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 187, "end": 191}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We postulate that these developmental epigenetic mechanisms by which Smad3 regulates MMP9 transcription cell autonomously may be important in modulating both emphysema and pulmonary fibrosis and that this could explain why both pathologies can appear within the same lung specimen.", "output": {"entities": {"gene": [{"text": "Smad3", "start": 69, "end": 74}], "disease": [{"text": "emphysema", "start": 158, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Smad3", "start": 69, "end": 74}, "tail": {"text": "emphysema", "start": 158, "end": 167}}]}}, "schema": []}
{"input": "To determine whether increased frequency of mutant alleles of the progesterone receptor gene (PGR) was associated with preterm birth in a population of Hispanic women.", "output": {"entities": {"gene": [{"text": "PGR", "start": 94, "end": 97}], "disease": [{"text": "preterm birth", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our data indicate that the hypersensitivity of TGCT cells is a result of their unique sensitivity to p53 activation.", "output": {"entities": {"gene": [{"text": "p53", "start": 116, "end": 119}], "disease": [{"text": "hypersensitivity", "start": 42, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Finally, coexpression of FzE3 with Lef-1 transcription factor enhanced beta-catenin translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "FzE3", "start": 25, "end": 29}], "disease": [{"text": "translocation", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We review the literature on MECP2 mutations in Rett syndrome.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 28, "end": 33}], "disease": [{"text": "Rett syndrome", "start": 47, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 28, "end": 33}, "tail": {"text": "Rett syndrome", "start": 47, "end": 60}}]}}, "schema": []}
{"input": "Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.", "output": {"entities": {"gene": [{"text": "MYH7", "start": 76, "end": 80}], "disease": [{"text": "Myosin storage myopathy", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH7", "start": 76, "end": 80}, "tail": {"text": "Myosin storage myopathy", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis.", "output": {"entities": {"gene": [{"text": "FAM111A", "start": 22, "end": 29}], "disease": [{"text": "OCS", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM111A", "start": 22, "end": 29}, "tail": {"text": "OCS", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "Using a HpaII/MspI digestion-polymerase chain reaction based assay, the presence of 5-methylcytosine in three CpG dinucleotides within the BRCA2 promoter was assessed in 18 breast or ovarian cancer cell lines, in an SV40 large T antigen immortalized cell line derived from normal breast epithelial cells, in 64 primary sporadic breast cancers and peripheral blood leucocytes from these cases and in a number of other normal human tissues.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 139, "end": 144}], "disease": [{"text": "sporadic", "start": 319, "end": 327}]}, "relations": {}}, "schema": []}
{"input": "Using mouse chromosome substitution strains and interval-specific congenic strains (ISCS), we previously identified an interval conferring pilocarpine-induced limbic seizure susceptibility on distal mouse chromosome 10 (Ch10).", "output": {"entities": {"gene": [{"text": "ISCS", "start": 84, "end": 88}], "disease": [{"text": "seizure", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The role of the integrins VLA-4 and LFA-1 and of the selectin adhesion molecules in autoimmune arthritis was investigated.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 36, "end": 41}], "disease": [{"text": "adhesion", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "To investigate if the polymorphisms of metabolic traits and DNA repair modulate smoking-related DNA damage, we used sister chromatid exchange (SCE) as a marker of genetic damage to explore the relationship of microsomal epoxide hydrolase (mEH), glutathione S-transferase M1 (GSTM1), and X-ray cross-complementing group 1 (XRCC1) and cigarette smoking-induced SCE.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 322, "end": 327}], "disease": [{"text": "smoking", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "While DNP manifests with albuminuria and diabetic glomerulopathy, its progression correlates best with tubular epithelial degeneration (TED) and interstitial fibrosis.", "output": {"entities": {"gene": [{"text": "TED", "start": 136, "end": 139}], "disease": [{"text": "albuminuria", "start": 25, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Allogeneic transplantation of hERG1-expressing cells into nude mice resulted in an increased incidence of tumors.", "output": {"entities": {"gene": [{"text": "hERG1", "start": 30, "end": 35}], "disease": [{"text": "tumors", "start": 106, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hERG1", "start": 30, "end": 35}, "tail": {"text": "tumors", "start": 106, "end": 112}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) analysis demonstrated that the nucleoporin gene (NUP98) at 11p15. 5 was disrupted by this translocation.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 91, "end": 96}], "disease": [{"text": "translocation", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The baseline blood vessel size, baseline blood flow and GNT induced dilation in both groups showed no significant differences among ACE genotypes (P > 0. 05).", "output": {"entities": {"gene": [{"text": "ACE", "start": 132, "end": 135}], "disease": [{"text": "dilation", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "SGEF is overexpressed in prostate cancer and contributes to prostate cancer progression.", "output": {"entities": {"gene": [{"text": "SGEF", "start": 0, "end": 4}], "disease": [{"text": "prostate cancer", "start": 25, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined 19 cases of LEC from the United States for evidence of microsatellite instability at the DNA level and for alterations in the DNA mismatch repair (MMR) system at the immunohistochemical staining level.", "output": {"entities": {"gene": [{"text": "LEC", "start": 39, "end": 42}], "disease": [{"text": "microsatellite instability", "start": 82, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Host immune responses, especially CD4 (+) T-cell responses clearly play a role in mediating pathological manifestations of LF, including lymphedema, hydrocele and elephantiasis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 34, "end": 37}], "disease": [{"text": "lymphedema", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.", "output": {"entities": {"gene": [{"text": "TRIP13", "start": 10, "end": 16}], "disease": [{"text": "Wilms tumor", "start": 41, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIP13", "start": 10, "end": 16}, "tail": {"text": "Wilms tumor", "start": 41, "end": 52}}]}}, "schema": []}
{"input": "To determine whether MGBs exert beneficial effects during endotoxemia through attenuating tissue inflammation via interfering with HMGA1-DNA binding and modulating expression of adhesion molecules.", "output": {"entities": {"gene": [{"text": "HMGA1", "start": 131, "end": 136}], "disease": [{"text": "inflammation", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "This study did not demonstrate a difference in the cumulative incidence of BM over time between the two cohorts (EGFR/ALK cohort competing risk regression [CRR] coefficient of 0. 78 [95% CI 0. 44-1. 39], p = 0. 41).", "output": {"entities": {"gene": [{"text": "ALK", "start": 118, "end": 121}], "disease": [{"text": "regression", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that NRP-1 mRNA was expressed in six of seven leukemic cell lines and primary leukemias derived from all 24 patients with acute myeloid leukemia (AML).", "output": {"entities": {"gene": [{"text": "NRP", "start": 24, "end": 27}], "disease": [{"text": "acute myeloid leukemia", "start": 141, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "To study whether the TNF alpha gene could be such a modifying gene, we studied TNF alpha promoter polymorphisms (G--> A substitution at positions-308 and-238) in relation to HLA-DQB1 genotypes in type 2 patients from mixed type 1/2 families or common type 2 diabetes families as well as in patients with adult-onset type 1 diabetes and control subjects.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 25, "end": 35}], "disease": [{"text": "type 1 diabetes", "start": 316, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous Mutations in MAP3K7, Encoding TGF-& #946;-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.", "output": {"entities": {"gene": [{"text": "MAP3K7", "start": 26, "end": 32}], "disease": [{"text": "Cardiospondylocarpofacial Syndrome", "start": 81, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAP3K7", "start": 26, "end": 32}, "tail": {"text": "Cardiospondylocarpofacial Syndrome", "start": 81, "end": 115}}]}}, "schema": []}
{"input": "IKBKE emerged as a candidate for further studies of genetic factors associated with panic disorder and major depressive disorder.", "output": {"entities": {"gene": [{"text": "IKBKE", "start": 0, "end": 5}], "disease": [{"text": "major depressive disorder", "start": 103, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IKBKE", "start": 0, "end": 5}, "tail": {"text": "major depressive disorder", "start": 103, "end": 128}}]}}, "schema": []}
{"input": "Twenty-six courses were delayed by a median of 7 days (range, 3-29 days), with interferon-alpha-2b administration frequently omitted because of thrombocytopenia, most often after Day 5.", "output": {"entities": {"gene": [{"text": "interferon-alpha-2b", "start": 79, "end": 98}], "disease": [{"text": "thrombocytopenia", "start": 144, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interferon-alpha-2b", "start": 79, "end": 98}, "tail": {"text": "thrombocytopenia", "start": 144, "end": 160}}]}}, "schema": []}
{"input": "Here, we investigated the effects of intramuscular delivery of DNA coding for the pro-apoptotic protein BAX together with an intracellular or a secreted form of the beta cell antigen glutamic acid decarboxylase (GAD) on diabetes onset and immune responses in non-obese diabetic (NOD) mice.", "output": {"entities": {"gene": [{"text": "BAX", "start": 104, "end": 107}], "disease": [{"text": "obese", "start": 263, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "We used log-linear modeling to analyze the association of PON1 and PON2 gene polymorphisms with the risk of preterm delivery.", "output": {"entities": {"gene": [{"text": "PON1", "start": 58, "end": 62}], "disease": [{"text": "preterm delivery", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Taken together, TFE3/Foxo1 and SREBP-1c reciprocally regulate IRS-2 expression and insulin sensitivity in the liver.", "output": {"entities": {"gene": [{"text": "Foxo1", "start": 21, "end": 26}], "disease": [{"text": "insulin sensitivity", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In this study, we performed double array analysis, consisting of both expression profiling and karyotyping analysis using single-nucleotide polymorphism (SNP) array, of the same HCC sample from a 68-year-old woman with chronic hepatitis type C, and attempted to find a novel tumor-suppressor gene as a prognostic marker for HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 178, "end": 181}], "disease": [{"text": "chronic hepatitis", "start": 219, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "The three of them had hypertophic cardiomyopathy while neurofibromas, Lisch nodules, and unidentified bright objects on MRI were absent.", "output": {"entities": {"gene": [{"text": "MRI", "start": 120, "end": 123}], "disease": [{"text": "neurofibromas", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Extrapyramidal signs (EPS) typically are a late-presenting feature of sporadic Alzheimer disease (AD), but relatively little data are available regarding EPS in FAD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 161, "end": 164}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Bioinformatics analysis revealed that increased levels of HIF-2α, ABCB5, OCT4, SOX2 and ZEB1 in different melanoma populations under hypoxia could be a result of significant down-regulation of miR-340-5p.", "output": {"entities": {"gene": [{"text": "ABCB5", "start": 66, "end": 71}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "We standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD.", "output": {"entities": {"gene": [{"text": "ABCD1", "start": 96, "end": 101}], "disease": [{"text": "X-ALD", "start": 138, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCD1", "start": 96, "end": 101}, "tail": {"text": "X-ALD", "start": 138, "end": 143}}]}}, "schema": []}
{"input": "We also found a novel NKX2-1 variation (p. H60W) in a sporadic nonsyndromic CH patient.", "output": {"entities": {"gene": [{"text": "NKX2-1", "start": 22, "end": 28}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The biologic and pathologic features of B-cell malignancies bearing a translocation t (14; 19) (q32; q13) leading to a fusion of IGH and BCL3 are still poorly described.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 137, "end": 141}], "disease": [{"text": "translocation", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Somatic LKB1 serine/threonine kinase alterations are rare in sporadic cancers, with the exception lung adenocarcinoma, but no mutations in squamous cell or large cell primary carcinoma were discovered.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 13, "end": 36}], "disease": [{"text": "primary carcinoma", "start": 167, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In contrast with approximately threefold upregulation of Dscam gene on days 5 and 7, immunoblotting and immunofluorescence analyses using specific antibodies showed a gradual decrease of DSCAM after ischemia until day 9 followed by recovery on day 15.", "output": {"entities": {"gene": [{"text": "DSCAM", "start": 187, "end": 192}], "disease": [{"text": "ischemia", "start": 199, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).", "output": {"entities": {"gene": [{"text": "Iduronate-2-sulfatase", "start": 0, "end": 21}], "disease": [{"text": "Hunter syndrome", "start": 88, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Iduronate-2-sulfatase", "start": 0, "end": 21}, "tail": {"text": "Hunter syndrome", "start": 88, "end": 103}}]}}, "schema": []}
{"input": "Knockdown of EphB2 expression in cSCC cells suppressed growth and vascularization of cSCC xenografts in vivo and inhibited proliferation, migration, and invasion of cSCC cells in culture.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 13, "end": 18}], "disease": [{"text": "vascularization", "start": 66, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "SOX30 was expressed in normal and peri-tumoral lung tissues in which SOX30 was unmethylated, but was silenced or downregulated in lung cancer cell lines and primary lung tumor tissues harboring a hypermethylated SOX30.", "output": {"entities": {"gene": [{"text": "SOX30", "start": 0, "end": 5}], "disease": [{"text": "lung tumor", "start": 165, "end": 175}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOX30", "start": 0, "end": 5}, "tail": {"text": "lung tumor", "start": 165, "end": 175}}]}}, "schema": []}
{"input": "All subjects' blood pressure (systolic blood pressure, SBP; diastolic blood pressure, DBP), biochemical values, plasma homocysteine, pyridoxal 5'-phosphate (PLP), serum folate, vitamin B12 concentrations, and methylenetetrafolate reductase (MTHFR) 677C--> T gene polymorphism were measured.", "output": {"entities": {"gene": [{"text": "DBP", "start": 86, "end": 89}], "disease": [{"text": "systolic blood pressure", "start": 30, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a possible contribution of STH gene products on the heterogeneity of core frontal executive functions deterioration, probably through complex interactions with mechanism involved in neurodevelopment and neurodegeneration.", "output": {"entities": {"gene": [{"text": "STH gene", "start": 49, "end": 57}], "disease": [{"text": "neurodegeneration", "start": 225, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "In this study, (-)-epigallocatechin-3-gallate (EGCG), the major constituent of green tea, is found to significantly inhibit the expression of IDO in human oral cancer cell lines.", "output": {"entities": {"gene": [{"text": "IDO", "start": 142, "end": 145}], "disease": [{"text": "oral cancer", "start": 155, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The corticotropin response to CRH was independent of sex and cocaine dependence.", "output": {"entities": {"gene": [{"text": "CRH", "start": 30, "end": 33}], "disease": [{"text": "cocaine dependence", "start": 61, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH", "start": 30, "end": 33}, "tail": {"text": "cocaine dependence", "start": 61, "end": 79}}]}}, "schema": []}
{"input": "To assess the tumor necrosis factor (TNF)-α gene polymorphism relationship with seminal variables in fertile men (N) and those with asthenozoospermia (A), asthenoteratozoospermia (AT), and oligoasthenoteratozoospermia (OAT).", "output": {"entities": {"gene": [{"text": "OAT", "start": 219, "end": 222}], "disease": [{"text": "asthenoteratozoospermia", "start": 155, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Given the central role that mitochondria play during hypoxia, we hypothesized that Txnip deletion would enhance ischemia-reperfusion damage.", "output": {"entities": {"gene": [{"text": "Txnip", "start": 83, "end": 88}], "disease": [{"text": "ischemia", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.", "output": {"entities": {"gene": [{"text": "INDO", "start": 106, "end": 110}], "disease": [{"text": "breast cancer", "start": 256, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "INDO", "start": 106, "end": 110}, "tail": {"text": "breast cancer", "start": 256, "end": 269}}]}}, "schema": []}
{"input": "RCCs from von Hippel-Lindau patients with known germline VHL mutations express significantly more E2F1 compared to sporadic RCCs with either clear-cell (cc) or non-cc histology.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 98, "end": 102}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Thus, ELN seems to contribute to blood pressure regulation by affecting arterial stiffness in Japanese.", "output": {"entities": {"gene": [{"text": "ELN", "start": 6, "end": 9}], "disease": [{"text": "arterial stiffness", "start": 72, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Restoration of HIC1 function in breast cancer cells leads to a reduction in tumor growth in vivo, an effect that can be partially rescued by co-overexpression of ephrin-A1.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 15, "end": 19}], "disease": [{"text": "breast cancer", "start": 32, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIC1", "start": 15, "end": 19}, "tail": {"text": "breast cancer", "start": 32, "end": 45}}]}}, "schema": []}
{"input": "To examine the nature of the association in Chinese individuals we analyzed DNA samples for these three PITX3 SNPs from 509 late-onset sporadic PD patients, and 494 healthy controls, using a ligase detection reaction (LDR).", "output": {"entities": {"gene": [{"text": "PITX3", "start": 104, "end": 109}], "disease": [{"text": "sporadic", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In addition, cholestatic liver fibrosis induced by BDL, as determined by immunohistochemistry analysis of a1 collagen expression, was increased in SHP-/-mice but attenuated in hepatocyte SHP-overexpressed transgenic (STG) mice.", "output": {"entities": {"gene": [{"text": "STG", "start": 217, "end": 220}], "disease": [{"text": "liver fibrosis", "start": 25, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T.", "output": {"entities": {"gene": [{"text": "ATM", "start": 0, "end": 3}], "disease": [{"text": "A-T", "start": 90, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 0, "end": 3}, "tail": {"text": "A-T", "start": 90, "end": 93}}]}}, "schema": []}
{"input": "The amount of CaV3. 1 mRNA increased during hypertrophy and retrieved its nonhypertrophic level after losartan treatment, whereas the amount of CaV3. 2 mRNA was unaffected by stenosis.", "output": {"entities": {"gene": [{"text": "CaV3. 2", "start": 144, "end": 151}], "disease": [{"text": "stenosis", "start": 175, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "The objective was to investigate the potential implication of the IL18 gene promoter polymorphisms in the susceptibility to giant-cell arteritis (GCA).", "output": {"entities": {"gene": [{"text": "IL18 gene", "start": 66, "end": 75}], "disease": [{"text": "giant", "start": 124, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice.", "output": {"entities": {"gene": [{"text": "transthyretin", "start": 175, "end": 188}], "disease": [{"text": "lung tumor", "start": 220, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transthyretin", "start": 175, "end": 188}, "tail": {"text": "lung tumor", "start": 220, "end": 230}}]}}, "schema": []}
{"input": "The aim of this study was to assess the mutational profile in each component of 16 adenosquamous carcinoma samples from a Caucasian population by a combination of next generation sequencing using the cancer hotspot panel as well as the colon and lung cancer panel and FISH.", "output": {"entities": {"gene": [{"text": "FISH", "start": 268, "end": 272}], "disease": [{"text": "adenosquamous carcinoma", "start": 83, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Using gene-based tests, suggestive associations were noted between EGR3 and BPI (p = 0. 017), and between NPAS2 and SZ/SZA (p = 0. 034).", "output": {"entities": {"gene": [{"text": "NPAS2", "start": 106, "end": 111}], "disease": [{"text": "SZA", "start": 119, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS2", "start": 106, "end": 111}, "tail": {"text": "SZA", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "Absence of Krt17 also attenuates hyperplasia and inflammation in models of acute dermatitis.", "output": {"entities": {"gene": [{"text": "Krt17", "start": 11, "end": 16}], "disease": [{"text": "hyperplasia", "start": 33, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.", "output": {"entities": {"gene": [{"text": "NDUFS6", "start": 0, "end": 6}], "disease": [{"text": "mitochondrial complex I deficiency", "start": 54, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NDUFS6", "start": 0, "end": 6}, "tail": {"text": "mitochondrial complex I deficiency", "start": 54, "end": 88}}]}}, "schema": []}
{"input": "Our observation that blockade of CLEC5A-mediated signalling attenuates the production of proinflammatory cytokines by macrophages infected with DV (either alone or complexed with an enhancing antibody) offers a promising strategy for alleviating tissue damage and increasing the survival of patients suffering from dengue haemorrhagic fever and dengue shock syndrome, and possibly even other virus-induced inflammatory diseases.", "output": {"entities": {"gene": [{"text": "CLEC5A", "start": 33, "end": 39}], "disease": [{"text": "dengue haemorrhagic fever", "start": 315, "end": 340}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CLEC5A", "start": 33, "end": 39}, "tail": {"text": "dengue haemorrhagic fever", "start": 315, "end": 340}}]}}, "schema": []}
{"input": "Stratified analyses did not find any significant effect of age, ethnicity, smoking, well-done meat consumption, dietary intake of PhIP, or polymorphisms of CYP1A1, CYP1B1, NAT2, and GSTM1 genes on the level of PhIP-DNA adducts.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 172, "end": 176}], "disease": [{"text": "smoking", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This study investigated MIR22HG effects on gastric cancer.", "output": {"entities": {"gene": [{"text": "MIR22HG", "start": 24, "end": 31}], "disease": [{"text": "gastric cancer", "start": 43, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MIR22HG", "start": 24, "end": 31}, "tail": {"text": "gastric cancer", "start": 43, "end": 57}}]}}, "schema": []}
{"input": "Levels of CXXC4 mRNA and hemoglobin and IPSS cytopenias were associated with the overall survival (P = 0. 025) but not with the leukemia-free survival of MDS patients.", "output": {"entities": {"gene": [{"text": "CXXC4", "start": 10, "end": 15}], "disease": [{"text": "leukemia", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "This study investigated their relationships with disease subphenotypes, including renal nephritis, photosensitivity, antinuclear antibody (ANA), age at diagnosis, malar rash, discoid rash, immunological disorder, oral ulcer, hematological disorder, neurological disorder, serositis, arthritis and vasculitis.", "output": {"entities": {"gene": [{"text": "ANA", "start": 139, "end": 142}], "disease": [{"text": "neurological disorder", "start": 249, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "A BRCA2-classifier was built using array-CGH profiles of 28 BRCA2-mutated and 28 sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 2, "end": 7}], "disease": [{"text": "sporadic", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these data demonstrate that NEDD4 is overexpressed in colorectal cancers, and suggest that NEDD4 promotes growth of colon cancer cells independently of PTEN and PI3K/AKT signaling.", "output": {"entities": {"gene": [{"text": "NEDD4", "start": 42, "end": 47}], "disease": [{"text": "colon cancer", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.", "output": {"entities": {"gene": [{"text": "SAMD9L", "start": 64, "end": 70}], "disease": [{"text": "Ataxia-Pancytopenia Syndrome", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAMD9L", "start": 64, "end": 70}, "tail": {"text": "Ataxia-Pancytopenia Syndrome", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "The frequency of B27 was determined in 83 permanently paced men with complete heart block, in whom presence of radiological or clinical signs of a B27-associated rheumatic disease had been excluded.", "output": {"entities": {"gene": [{"text": "B27", "start": 17, "end": 20}], "disease": [{"text": "complete heart block", "start": 69, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This study reveals an elaborate but highly organized molecular interplay between Rad51 regulators and has significant implications for understanding tumorigenesis and therapeutic resistance in patients with BRCA2 deficiency.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 207, "end": 212}], "disease": [{"text": "tumorigenesis", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that liver cirrhosis increases mRNA expressions of AM, CRLR and RAMP1, RAMP2 and RAMP3 and that the increase in AM gene expression precedes the development of cirrhosis.", "output": {"entities": {"gene": [{"text": "RAMP3", "start": 101, "end": 106}], "disease": [{"text": "cirrhosis", "start": 31, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In a search for mutations of mu-crystallin (CRYM), a taxion specific crystalline which is also known as an NADP regulated thyroid hormone binding protein, two mutations were found at the C-terminus in patients with non-syndromic deafness.", "output": {"entities": {"gene": [{"text": "CRYM", "start": 44, "end": 48}], "disease": [{"text": "deafness", "start": 229, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, in the inflamed synovium, as activated T cells migrate through the sublining and lining layer, T cell-derived IL-2 may activate FLS to secrete MCP-1, thus recruiting macrophages into the rheumatoid synovium and perpetuating inflammation.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 125, "end": 129}], "disease": [{"text": "inflammation", "start": 239, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.", "output": {"entities": {"gene": [{"text": "follicle-stimulating hormone receptor", "start": 59, "end": 96}], "disease": [{"text": "Ovarian hyperstimulation syndrome", "start": 0, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "follicle-stimulating hormone receptor", "start": 59, "end": 96}, "tail": {"text": "Ovarian hyperstimulation syndrome", "start": 0, "end": 33}}]}}, "schema": []}
{"input": "The current results indicated that CRM1 is expressed in a subpopulation of ovarian carcinomas with aggressive behavior and is related to poor patient outcome.", "output": {"entities": {"gene": [{"text": "CRM1", "start": 35, "end": 39}], "disease": [{"text": "aggressive behavior", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, RPS19 significantly compromised CXCR2-dependent MIF-triggered adhesion of monocytes to endothelial cells under flow conditions.", "output": {"entities": {"gene": [{"text": "MIF", "start": 61, "end": 64}], "disease": [{"text": "adhesion", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Within the nucleus, Amot-p130 was associated with the transcriptional complex containing Yap and Teads (TEA domain family members) and contributed to the regulation of a subset of Yap target genes, many of which are associated with tumorigenesis.", "output": {"entities": {"gene": [{"text": "p130", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 232, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "The human homologue of the rat NG2 chondroitin sulfate proteoglycan molecule, as detected by the monoclonal antibody (moab) 7. 1, was shown to be expressed on leukemic cells with MLL rearrangements of children with acute leukemia.", "output": {"entities": {"gene": [{"text": "NG2", "start": 31, "end": 34}], "disease": [{"text": "acute leukemia", "start": 215, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.", "output": {"entities": {"gene": [{"text": "Wiskott--Aldrich Syndrome protein", "start": 22, "end": 55}], "disease": [{"text": "X-linked thrombocytopenia", "start": 85, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Wiskott--Aldrich Syndrome protein", "start": 22, "end": 55}, "tail": {"text": "X-linked thrombocytopenia", "start": 85, "end": 110}}]}}, "schema": []}
{"input": "To determine whether PU. 1 is also involved in microglial regulation, we investigated its expression following hypoxic-ischemia (HI) brain injury and in the BV-2 microglial cell line.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 21, "end": 26}], "disease": [{"text": "hypoxic", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Absence of a germline mutation of the CYLD gene in cases harboring a somatic mutation may be explained by large deletions in the gene or by mutation in intronic sequences or in the promoter region.", "output": {"entities": {"gene": [{"text": "CYLD gene", "start": 38, "end": 47}], "disease": [{"text": "somatic mutation", "start": 69, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We found that diastolic blood pressure (DBP) but not systolic blood pressure reactivities to the mental arithmetic and bicycle exercise tasks were controlled by major gene effects.", "output": {"entities": {"gene": [{"text": "DBP", "start": 40, "end": 43}], "disease": [{"text": "systolic blood pressure", "start": 53, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We have addressed to what extent the tumorigenic-positive selection exerted by BRAF mutations seen in colorectal MMR-deficient tumors was also involved in the tumorigenesis of gastric cancer.", "output": {"entities": {"gene": [{"text": "MMR", "start": 113, "end": 116}], "disease": [{"text": "tumorigenesis", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.", "output": {"entities": {"gene": [{"text": "MFSD8", "start": 41, "end": 46}], "disease": [{"text": "macular dystrophy with central cone involvement", "start": 100, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MFSD8", "start": 41, "end": 46}, "tail": {"text": "macular dystrophy with central cone involvement", "start": 100, "end": 147}}]}}, "schema": []}
{"input": "Increased granulocyte-colony stimulating factor (G-CSF) and granulocyte-macrophage colony stimulating factor (GM-CSF) levels in BAL fluid from patients with sulfur mustard gas-induced pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "granulocyte-colony stimulating factor", "start": 10, "end": 47}], "disease": [{"text": "pulmonary fibrosis", "start": 184, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "granulocyte-colony stimulating factor", "start": 10, "end": 47}, "tail": {"text": "pulmonary fibrosis", "start": 184, "end": 202}}]}}, "schema": []}
{"input": "EBV-encoded latent membrane protein 1 (EBV-LMP1) is an important oncogenic protein for nasopharyngeal carcinoma (NPC) and has been shown to engage a plethora of signaling pathways.", "output": {"entities": {"gene": [{"text": "LMP1", "start": 43, "end": 47}], "disease": [{"text": "plethora", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "This review focuses on the role of PGC-1alpha in glucose metabolism and considers how PGC-1alpha links cellular glucose metabolism, insulin sensitivity and mitochondrial function, and why defects in PGC-1alpha expression and regulation may contribute to the pathophysiology of type 2 diabetes in humans.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 35, "end": 45}], "disease": [{"text": "insulin sensitivity", "start": 132, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Secretory phospholipase A2 group IIa (sPLA2-IIa) is involved in inflammation, tumorigenesis and metastasis.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 38, "end": 43}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We engineered two food-grade strains of lactic acid bacteria (LAB) to express and deliver Elafin to the site of inflammation in the colon to assess the potential therapeutic benefits of the Elafin-expressing LAB.", "output": {"entities": {"gene": [{"text": "Elafin", "start": 90, "end": 96}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Leucine-rich repeat-containing G protein-coupled receptor 5 (LGR5), a seven transmembrane receptor known as a potential stem cell marker for intestinal crypts and hair follicles, has recently been found to be overexpressed in some types of human cancers.", "output": {"entities": {"gene": [{"text": "G protein-coupled receptor 5", "start": 31, "end": 59}], "disease": [{"text": "cancers", "start": 246, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "However, about 8 genes have been identified differentially which are expressed in lobular and ductal cancers: E-CD, survivin, cathepsin B, TPI1, SPRY1, SCYA14, TFAP2B, and thrombospondin 4, osteopontin, HLA-G, and CHC1.", "output": {"entities": {"gene": [{"text": "SCYA14", "start": 152, "end": 158}], "disease": [{"text": "cancers", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Although negative in schwannomas, neurofibromas, and malignant peripheral nerve sheath tumors, MUM1 is detected in only one in eight cases of spindle cell and desmoplastic melanomas.", "output": {"entities": {"gene": [{"text": "MUM1", "start": 95, "end": 99}], "disease": [{"text": "schwannomas", "start": 21, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The translocation results in an EWS-Fli1 fusion gene, made up of the 5' half of the EWS gene on chromosome 22 fused to the 3' half of the Fli1 gene on chromosome 11.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 84, "end": 92}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The PAX8-PPARG translocation has been reported to occur in the majority of FTC.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 9, "end": 14}], "disease": [{"text": "translocation", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "To the best of our knowledge, COL6A1 has never been described in gliomas.", "output": {"entities": {"gene": [{"text": "COL6A1", "start": 30, "end": 36}], "disease": [{"text": "gliomas", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans.", "output": {"entities": {"gene": [{"text": "MYO1A", "start": 133, "end": 138}], "disease": [{"text": "neuropathy", "start": 171, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "This report describes six British CMTX families with six novel mutations (four missense, one nonsense, and one frame shift) of the GJB1 gene.", "output": {"entities": {"gene": [{"text": "GJB1", "start": 131, "end": 135}], "disease": [{"text": "CMTX", "start": 34, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJB1", "start": 131, "end": 135}, "tail": {"text": "CMTX", "start": 34, "end": 38}}]}}, "schema": []}
{"input": "The cytokines that signal through the leukemia inhibitory factor (LIF) receptor are members of the neuropoietic cytokine family and have varied and numerous roles in the nervous system.", "output": {"entities": {"gene": [{"text": "LIF", "start": 66, "end": 69}], "disease": [{"text": "nervous system", "start": 170, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Yeast two-hybrid cloning identified metastasis-associated GPI-anchored C4. 4a protein and extracellular alpha-dystroglycan (DAG-1) as binding partners for both hAG-2 and hAG-3, which if replicated in clinical oncology would demonstrate a potential role in tumour metastasis through the regulation of receptor adhesion and functioning.", "output": {"entities": {"gene": [{"text": "C4. 4a", "start": 71, "end": 77}], "disease": [{"text": "adhesion", "start": 309, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "PSZA11q14 is located on chromosome 11q14, an area shown previously to co-segregate with schizophrenia and related disorders in several families.", "output": {"entities": {"gene": [{"text": "PSZA11q14", "start": 0, "end": 9}], "disease": [{"text": "schizophrenia and related disorders", "start": 88, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSZA11q14", "start": 0, "end": 9}, "tail": {"text": "schizophrenia and related disorders", "start": 88, "end": 123}}]}}, "schema": []}
{"input": "These results indicate that rhIL10-RGD has anti-fibrosis effects and can potentially be used to treat the neovasculature in scar formation and improve the abnormal deposition of the extracellular matrix (ECM).", "output": {"entities": {"gene": [{"text": "ECM", "start": 204, "end": 207}], "disease": [{"text": "fibrosis", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Hyperalgesia induced by both PLA (2) s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B (2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (IL-1).", "output": {"entities": {"gene": [{"text": "tumor necrosis factor", "start": 221, "end": 242}], "disease": [{"text": "Hyperalgesia", "start": 0, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor", "start": 221, "end": 242}, "tail": {"text": "Hyperalgesia", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "Based on multivariate Cox regression analysis, age 60 years and older, low platelet count (< 15 × 10 (9) cells/L), AFP level of 20 ng/mL or greater, advanced stage fibrosis, diabetes, lack of an SVR, and the IFNL3 rs12979860 CT and TT genotypes were significant risk factors for HCC (P <. 05).", "output": {"entities": {"gene": [{"text": "HCC", "start": 279, "end": 282}], "disease": [{"text": "fibrosis", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Further analyses of molecular and functional compensations in the CHT +/-model may provide insights into both risk and resiliency factors involved in cognitive and mood disorders.", "output": {"entities": {"gene": [{"text": "CHT", "start": 66, "end": 69}], "disease": [{"text": "mood disorders", "start": 164, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHT", "start": 66, "end": 69}, "tail": {"text": "mood disorders", "start": 164, "end": 178}}]}}, "schema": []}
{"input": "More than 90% of the tumor was composed of CLC areas that showed small monotonous and/or anastomosing glands, strongly positive for K7 and K19.", "output": {"entities": {"gene": [{"text": "CLC", "start": 43, "end": 46}], "disease": [{"text": "tumor", "start": 21, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The exon 7 [840 (CGT--> CAT), 855 (CGC--> CAC)] was showing micropenis and severe hypospadias.", "output": {"entities": {"gene": [{"text": "CAT", "start": 24, "end": 27}], "disease": [{"text": "hypospadias", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that PSD is not associated with the genetic risk factors of vascular dementia (VD) that were studied, and that additional factors may contribute to the pathogenesis of PSD.", "output": {"entities": {"gene": [{"text": "PSD", "start": 23, "end": 26}], "disease": [{"text": "vascular dementia", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "An inverse relationship between MITF, vemurafenib resistance, and EGFR was then observed in patient samples of recurrent melanoma and was conserved across melanoma cell lines and patients' tumor specimens.", "output": {"entities": {"gene": [{"text": "MITF", "start": 32, "end": 36}], "disease": [{"text": "recurrent melanoma", "start": 111, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.", "output": {"entities": {"gene": [{"text": "RLBP1", "start": 18, "end": 23}], "disease": [{"text": "retinitis punctata albescens", "start": 56, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RLBP1", "start": 18, "end": 23}, "tail": {"text": "retinitis punctata albescens", "start": 56, "end": 84}}]}}, "schema": []}
{"input": "In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure to identify mutations.", "output": {"entities": {"gene": [{"text": "G6Pase", "start": 81, "end": 87}], "disease": [{"text": "GSD Ia", "start": 7, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "G6Pase", "start": 81, "end": 87}, "tail": {"text": "GSD Ia", "start": 7, "end": 13}}]}}, "schema": []}
{"input": "Two recent candidate genes, ErbB3 and Fgfr1, are growth factors whose mRNA levels have been found to be altered in the leukocytes of patients that are affected by bipolar disorder in a depressive state.", "output": {"entities": {"gene": [{"text": "ErbB3", "start": 28, "end": 33}], "disease": [{"text": "bipolar disorder", "start": 163, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ErbB3", "start": 28, "end": 33}, "tail": {"text": "bipolar disorder", "start": 163, "end": 179}}]}}, "schema": []}
{"input": "Nevertheless, haploidentical bone marrow graft rejection does not occur in the severe phenotype, an indication for possible immunotherapy with LFA-1 specific monoclonal antibodies.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 143, "end": 148}], "disease": [{"text": "graft rejection", "start": 41, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We retrospectively examined 37 patients with locally advanced NSCLC treated with definitive thoracic radiotherapy (TRT).", "output": {"entities": {"gene": [{"text": "TRT", "start": 115, "end": 118}], "disease": [{"text": "thoracic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "PTEN (phosphatase/tensin homolog on chromosome 10)-induced putative kinase 1 (PINK1), a putative kinase that is mutated in autosomal recessive forms of PD, is also implicated in sporadic cases of the disease.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 78, "end": 83}], "disease": [{"text": "sporadic", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Further validation of candidate genes on a separate cohort of low and high grade prostate cancers by quantitative MethyLight analysis has allowed us to confirm DNA hypermethylation of HOXD3 and BMP7, two genes that may play a role in the development of high grade tumours.", "output": {"entities": {"gene": [{"text": "HOXD3", "start": 184, "end": 189}], "disease": [{"text": "prostate cancers", "start": 81, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXD3", "start": 184, "end": 189}, "tail": {"text": "prostate cancers", "start": 81, "end": 97}}]}}, "schema": []}
{"input": "Lymphocyte function-associated antigens 1 and 3 (LFA-1, LFA-3) and intercellular adhesion molecule 1 (ICAM-1) are cell surface adhesion molecules necessary for immune processes requiring intercellular contact.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 49, "end": 54}], "disease": [{"text": "adhesion", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Tubastatin-A, a specific HDAC6 inhibitor, inhibited STIM1 translocation to plasma membrane and blocked SOCE activation in cancer cells but not normal epithelial cells.", "output": {"entities": {"gene": [{"text": "HDAC6", "start": 25, "end": 30}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2 mutations.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 44, "end": 49}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Consistent with these findings, we found that human clinical samples of epithelial and glial cancers (frequently marked by loss of p53 function) possessed high level of CARF expression showing a relationship with cancer aggressiveness.", "output": {"entities": {"gene": [{"text": "CARF", "start": 169, "end": 173}], "disease": [{"text": "aggressiveness", "start": 220, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Combination treatment with Grb7 peptide and Doxorubicin or Trastuzumab (Herceptin) results in cooperative cell growth inhibition in breast cancer cells.", "output": {"entities": {"gene": [{"text": "Grb7", "start": 27, "end": 31}], "disease": [{"text": "breast cancer", "start": 132, "end": 145}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Grb7", "start": 27, "end": 31}, "tail": {"text": "breast cancer", "start": 132, "end": 145}}]}}, "schema": []}
{"input": "The genes with their respective functional polymorphisms were the following: factor V (G1691A), prothrombin/factor II (G20210A), methylenetetrahydrofolate reductase (C677T), platelet glycoprotein receptor IIIa (P1A1/A2), b-fibrinogen (G/A-455) and plasminogen activator inhibitor-type 1 (4G/5G).", "output": {"entities": {"gene": [{"text": "factor II", "start": 108, "end": 117}], "disease": [{"text": "fibrinogen", "start": 223, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Our findings showed high frequencies of infertile men (73. 85%) and controls (78. 26%) having only three DAZ gene copies (DAZ1/DAZ2/DAZ3 or DAZ1/DAZ3/DAZ4 variants); so deletion of DAZ2 or DAZ4 were frequent both in infertile (36. 5% and 37. 3%, respectively) and fertile groups (33. 9% and 44. 3%, respectively) and removing DAZ4 copy was significantly more frequent in oligospermic than in normospermic men (p = 0. 04) in infertile group.", "output": {"entities": {"gene": [{"text": "DAZ1", "start": 122, "end": 126}], "disease": [{"text": "infertile", "start": 40, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas.", "output": {"entities": {"gene": [{"text": "DUX4", "start": 368, "end": 372}], "disease": [{"text": "carcinomas", "start": 218, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "In this study we investigated the CYP17 polymorphisms in ovarian cancer patients harboring mutations in the BRCA1 and BRCA2 genes, patients displaying familial characteristics but not carrying mutations and patients with sporadic ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 118, "end": 129}], "disease": [{"text": "sporadic", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Arginase 1 is crucially involved in Ang II-induced SMC proliferation and arterial fibrosis and stiffness and represents a promising therapeutic target.", "output": {"entities": {"gene": [{"text": "Arginase 1", "start": 0, "end": 10}], "disease": [{"text": "fibrosis", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Thus, mutations in PMFBP1 are an important cause of infertility in men with acephalic spermatozoa syndrome.", "output": {"entities": {"gene": [{"text": "PMFBP1", "start": 19, "end": 25}], "disease": [{"text": "acephalic spermatozoa syndrome", "start": 76, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMFBP1", "start": 19, "end": 25}, "tail": {"text": "acephalic spermatozoa syndrome", "start": 76, "end": 106}}]}}, "schema": []}
{"input": "We have analyzed six unrelated incidences of epidermolytic palmoplantar keratoderma for mutations in their keratin 9 genes.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 107, "end": 116}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 45, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 107, "end": 116}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 45, "end": 83}}]}}, "schema": []}
{"input": "The associations among BD consanguinity, familial hypercholesterolemia, and leptin receptor SNPs reported herein should be replicated and extended in other pedigrees.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 76, "end": 91}], "disease": [{"text": "familial hypercholesterolemia", "start": 41, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Moreover, such phospho-Smad1/5-mediated rapamycin responses were blocked by LDN-193189 (a BMPRI kinase inhibitor) or Noggin (a BMP antagonist) in LNCaP prostate cancer cells.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 23, "end": 28}], "disease": [{"text": "prostate cancer", "start": 152, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Mutations in WNT10B Are Identified in Individuals with Oligodontia.", "output": {"entities": {"gene": [{"text": "WNT10B", "start": 13, "end": 19}], "disease": [{"text": "Oligodontia", "start": 55, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT10B", "start": 13, "end": 19}, "tail": {"text": "Oligodontia", "start": 55, "end": 66}}]}}, "schema": []}
{"input": "Thus, FATE/BJ-HCC-2 may be a valuable candidate CT antigen for polyvalent vaccines in tumor immunotherapy and an assisting diagnostic marker for prognosis of the disease.", "output": {"entities": {"gene": [{"text": "HCC-2", "start": 14, "end": 19}], "disease": [{"text": "tumor", "start": 86, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "These findings identify a previously unknown oncogenic property of the spatially deregulated AURKA in tumorigenesis and provide a potential therapeutic opportunity to overcome kinase inhibitor resistance.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 93, "end": 98}], "disease": [{"text": "tumorigenesis", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Since recent evidence indicates that microRNAs may be involved in EMT, the present study set out to reveal the miRNA which might regulate the EMT in CP (chronic pancreatitis) and PC (pancreatic cancer) and its potential mechanism.", "output": {"entities": {"gene": [{"text": "EMT", "start": 66, "end": 69}], "disease": [{"text": "chronic pancreatitis", "start": 153, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The combined presence of the NAT1/NAT2 high-risk genotype and the XPD Lys/Lys or Lys/Gln genotypes ignoring smoking had an odds ratio that was only slightly higher than expected, assuming no genotype-genotype interaction (P = 0. 52).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 34, "end": 38}], "disease": [{"text": "smoking", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "amyloid precursor protein", "start": 31, "end": 56}], "disease": [{"text": "Alzheimer' s disease", "start": 91, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "amyloid precursor protein", "start": 31, "end": 56}, "tail": {"text": "Alzheimer' s disease", "start": 91, "end": 111}}]}}, "schema": []}
{"input": "Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.", "output": {"entities": {"gene": [{"text": "TGFBR1", "start": 100, "end": 106}], "disease": [{"text": "Multiple self-healing squamous epithelioma", "start": 0, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBR1", "start": 100, "end": 106}, "tail": {"text": "Multiple self-healing squamous epithelioma", "start": 0, "end": 42}}]}}, "schema": []}
{"input": "Periaxin mutations cause recessive Dejerine-Sottas neuropathy.", "output": {"entities": {"gene": [{"text": "Periaxin", "start": 0, "end": 8}], "disease": [{"text": "Dejerine-Sottas neuropathy", "start": 35, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Periaxin", "start": 0, "end": 8}, "tail": {"text": "Dejerine-Sottas neuropathy", "start": 35, "end": 61}}]}}, "schema": []}
{"input": "Comparison of clinico-biological characteristics of patients with and without thrombosis revealed in the former group higher median white blood cell (WBC) count (17 x 10 (9)/l, range 1. 2-56, P = 0. 002), prevalence of the bcr3 transcript type (72 vs 48%, P = 0. 01), of FLT3-ITD (64 vs 28%, P = 0. 02), CD2 (P = 0. 0001) and CD15 (P = 0. 01) expression.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 271, "end": 275}], "disease": [{"text": "thrombosis", "start": 78, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FLT3", "start": 271, "end": 275}, "tail": {"text": "thrombosis", "start": 78, "end": 88}}]}}, "schema": []}
{"input": "The chance of a live birth after a diagnosis of secondary recurrent miscarriage (SRM) is reduced in patients who, prior to the miscarriages, gave birth to a boy and carry HLA class II alleles that efficiently present male-specific (H-Y) antigens to the immune system.", "output": {"entities": {"gene": [{"text": "SRM", "start": 81, "end": 84}], "disease": [{"text": "recurrent miscarriage", "start": 58, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Taken together, miR-145 plays an important role in tumorigenesis of PCa through interfering SENP1.", "output": {"entities": {"gene": [{"text": "SENP1", "start": 92, "end": 97}], "disease": [{"text": "tumorigenesis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control study of colorectal adenoma (914 cases, 1185 controls) and CRC (496 cases, 607 controls) among Japanese Americans, European Americans and Native Hawaiians to investigate the association of genetic variation in the PAH and HAA bioactivation pathway (CYP1A1, CYP1A2, CYP1B1, AHR and ARNT) identified through sequencing with risk of colorectal neoplasia, as well as their interactions with smoking and intakes of red meat and HAAs.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 293, "end": 299}], "disease": [{"text": "smoking", "start": 415, "end": 422}]}, "relations": {}}, "schema": []}
{"input": "Epidermolytic palmoplantar keratoderma of V & #246; rner: re-evaluation of V & #246; rner' s original family and identification of a novel keratin 9 mutation.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 139, "end": 148}], "disease": [{"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 139, "end": 148}, "tail": {"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}}]}}, "schema": []}
{"input": "Conversely, adenovirally-mediated overexpression of NAIP or the X-linked IAP called XIAP reduces the loss of CA1 hippocampal neurons following transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 109, "end": 112}], "disease": [{"text": "ischemia", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "A low dose [5 x 10 (8) plaque-forming units (pfu)] of an adenovirus expressing apoE4 did not normalize plasma cholesterol levels of apolipoprotein E-deficient (apoE (-/-)) x low density lipoprotein receptor-deficient (LDLr (-/-)) mice and induced hypertriglyceridemia.]", "output": {"entities": {"gene": [{"text": "low density lipoprotein receptor", "start": 174, "end": 206}], "disease": [{"text": "adenovirus", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Canonical WNT signals are transduced through Frizzled (FZD) family receptor and LRP5/LRP6 co-receptor to upregulate FGF20, JAG1, DKK1, WISP1, CCND1 and MYC genes for cell-fate determination, while non-canonical WNT signals are transduced through FZD family receptor and ROR2/PTK7/RYK co-receptor to activate RHOA/RHOU/RAC/CDC42, JNK, PKC, NLK and NFAT signaling cascades for the regulation of tissue polarity, cell movement, and adhesion.", "output": {"entities": {"gene": [{"text": "RYK", "start": 280, "end": 283}], "disease": [{"text": "adhesion", "start": 429, "end": 437}]}, "relations": {}}, "schema": []}
{"input": "Therefore, TNF-related inflammatory cytokine genes may play a role in neural activity associated with frustrative non-reward and aggressive behaviors in pediatric bipolar disorder.", "output": {"entities": {"gene": [{"text": "TNF", "start": 11, "end": 14}], "disease": [{"text": "bipolar disorder", "start": 163, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 11, "end": 14}, "tail": {"text": "bipolar disorder", "start": 163, "end": 179}}]}}, "schema": []}
{"input": "Results show that KIT mutations are more common in vulvar melanomas than other types of mucosal melanomas and that both the RAF/MEK/ERK and PI3K/AKT pathways are activated in mucosal melanoma specimens.", "output": {"entities": {"gene": [{"text": "ERK", "start": 132, "end": 135}], "disease": [{"text": "mucosal melanoma", "start": 88, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Increasing EphB4 expression by transient transfection inhibited cell substrate adhesion, and this effect was also independent of ephrin stimulation because it was not affected by single amino acid mutations in EphB4 that impair ephrin binding.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 11, "end": 16}], "disease": [{"text": "adhesion", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 45, "end": 51}], "disease": [{"text": "OI type II", "start": 107, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A1", "start": 45, "end": 51}, "tail": {"text": "OI type II", "start": 107, "end": 117}}]}}, "schema": []}
{"input": "These results suggest that (1) fetal oliguria secondary to indomethacin is mediated through the stimulation of the renal arginine vasopressin V2-receptor and (2) prostaglandin synthesis inhibition may play a role in renal tubular sodium handling.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 121, "end": 141}], "disease": [{"text": "oliguria", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Association between myeloid malignancies and acquired deficit in protein 4. 1R: a retrospective analysis of six patients.", "output": {"entities": {"gene": [{"text": "4. 1R", "start": 73, "end": 78}], "disease": [{"text": "malignancies", "start": 28, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Karyotypic complexities associated with frequent loss or rearrangement of a number of chromosome arms, deletions, and mutations affecting the TP53 region, and molecular alterations of the INK4A gene have been reported in sporadic and/or neurofibromatosis type I (NF1)-related malignant peripheral nerve sheath tumors (MPNSTs).", "output": {"entities": {"gene": [{"text": "TP53", "start": 142, "end": 146}], "disease": [{"text": "sporadic", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a second case of congenital ataxia linked to the ΔF1502 α1A mutation, detected by whole-exome sequencing, and analyze its functional consequences on CaV2. 1 human channels heterologously expressed in mammalian tsA-201 HEK cells, using the physiological permeant ion Ca2 +.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 282, "end": 285}], "disease": [{"text": "ataxia", "start": 44, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "IRX2 was also expressed in human fetal kidney-the presumed tissue of origin for CCSK.", "output": {"entities": {"gene": [{"text": "IRX2", "start": 0, "end": 4}], "disease": [{"text": "CCSK", "start": 80, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRX2", "start": 0, "end": 4}, "tail": {"text": "CCSK", "start": 80, "end": 84}}]}}, "schema": []}
{"input": "Low-grade astrocytomas, but not glioblastomas, also showed elevated SOX8 transcript levels.", "output": {"entities": {"gene": [{"text": "SOX8", "start": 68, "end": 72}], "disease": [{"text": "astrocytomas", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to determine the role of two potential candidate genes on chromosome 17 in CDH: HOXB9 (involved in limb embryonic development) and COL1A1 (involved in joint laxity).", "output": {"entities": {"gene": [{"text": "HOXB9", "start": 97, "end": 102}], "disease": [{"text": "joint laxity", "start": 168, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Mutations in other genes, such as IRS4, GULP1, NHSL1, and C10orf53, accounted for one alteration in each meningioma nodule.", "output": {"entities": {"gene": [{"text": "IRS4", "start": 34, "end": 38}], "disease": [{"text": "nodule", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "This study has shown that HLA-DR15 expression is associated with a reduced dermal Th-1 response to GAS cell wall proteins in patients with psoriasis.", "output": {"entities": {"gene": [{"text": "GAS", "start": 99, "end": 102}], "disease": [{"text": "psoriasis", "start": 139, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Moreover, neuroblastomas with chromosomal deletion of 1p36 exhibit loss of KIF1Bβ expression and impaired DHX9 nuclear localization, implicating the loss of DHX9 nuclear activity in neuroblastoma pathogenesis.", "output": {"entities": {"gene": [{"text": "DHX9", "start": 106, "end": 110}], "disease": [{"text": "chromosomal deletion", "start": 30, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that ECM changes in airway remodelling via MMP-1 could contribute to an environment promoting greater airway narrowing in response to broncho-constrictor stimuli and worsening asthma symptoms.", "output": {"entities": {"gene": [{"text": "ECM", "start": 26, "end": 29}], "disease": [{"text": "airway remodelling", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The results were substantially the same when a preterm spontaneous labour group (PTL) (n = 26), exclusive of deliveries complicated by pre-eclampsia (n = 1) or intrauterine growth restriction (n = 3), was compared to the CST and SLT groups.", "output": {"entities": {"gene": [{"text": "PTL", "start": 81, "end": 84}], "disease": [{"text": "intrauterine growth restriction", "start": 160, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, BMP2/pSMAD1 signaling participates in the PFOA-induced developmental cardiotoxicity in chicken embryo, which is likely located upstream of PPAR alpha for this particular endpoint.", "output": {"entities": {"gene": [{"text": "BMP2", "start": 15, "end": 19}], "disease": [{"text": "cardiotoxicity", "start": 84, "end": 98}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BMP2", "start": 15, "end": 19}, "tail": {"text": "cardiotoxicity", "start": 84, "end": 98}}]}}, "schema": []}
{"input": "Results indicate that the TNF gene polymorphisms studied play no part in determination of disease severity or ASP susceptibility; however, they are both strongly related to the development of septic shock in ASP.", "output": {"entities": {"gene": [{"text": "ASP", "start": 110, "end": 113}], "disease": [{"text": "septic shock", "start": 192, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "NNT-1/BSF-3 induces tyrosine phosphorylation of glycoprotein 130 (gp130), leukemia inhibitory factor receptor beta, and signal transducer and activator of transcription 3 in the SK-N-MC human neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "BSF-3", "start": 6, "end": 11}], "disease": [{"text": "neuroblastoma", "start": 192, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "The associations between one of suggested candidate, apolipoprotein E (apo E) genotype to bone mineral density (BMD) and bone biochemical markers was studied in 464 subjects recruited from a population-based group of early postmenopausal women (n = 13100).", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 53, "end": 69}], "disease": [{"text": "bone mineral density", "start": 90, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Distinct morphologic features of this entity include marrow basophilia and myelodysplasia, and immunophenotypically, the blast cells are positive for CD9, CD13, CD33, and HLA-DR; are usually positive for CD45 and CD38; and may be positive for CD15, CD34, and terminal deoxynucleotidyl transferase.", "output": {"entities": {"gene": [{"text": "CD34", "start": 249, "end": 253}], "disease": [{"text": "basophilia", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "This preliminary result suggests that the promoter GT repeat dinucleotide microsatellite polymorphism of the IFNAR1 gene may represent a risk factor for the development of depressive symptoms during IFN-alpha therapy for hepatitis C and other conditions.", "output": {"entities": {"gene": [{"text": "IFNAR1", "start": 109, "end": 115}], "disease": [{"text": "depressive symptoms", "start": 172, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IFNAR1", "start": 109, "end": 115}, "tail": {"text": "depressive symptoms", "start": 172, "end": 191}}]}}, "schema": []}
{"input": "This study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes.", "output": {"entities": {"gene": [{"text": "YARS2", "start": 33, "end": 38}], "disease": [{"text": "MLASA", "start": 53, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "YARS2", "start": 33, "end": 38}, "tail": {"text": "MLASA", "start": 53, "end": 58}}]}}, "schema": []}
{"input": "More recently, the very sensitive detection methods, interphase fluorescence in situ hybridization (FISH) and Southern blot on RT-PCR amplicons, demonstrated that the oligoclonal occurrence of RET rearrangement in benign thyroid lesions is not a rare event and suggested that it could be associated with a faster enlargement in benign nodules.", "output": {"entities": {"gene": [{"text": "FISH", "start": 100, "end": 104}], "disease": [{"text": "enlargement", "start": 313, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "IL-6 showed inverse correlations with liver function, intensity of alcoholism, nutritional status, left arm muscle mass and short-term mortality.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 0, "end": 4}], "disease": [{"text": "alcoholism", "start": 67, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 0, "end": 4}, "tail": {"text": "alcoholism", "start": 67, "end": 77}}]}}, "schema": []}
{"input": "The frequency of OPCML hypermethylation in endometrioid carcinoma, serous cystadenocarcinoma, mucinous cystadenocarcinoma, clear cell carcinoma, and undifferentiated carcinoma were 80. 0%, 85. 5%, 50. 0%, 80. 0%, and 100%, respectively (p > 0. 05).", "output": {"entities": {"gene": [{"text": "OPCML", "start": 17, "end": 22}], "disease": [{"text": "undifferentiated carcinoma", "start": 149, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "BTG1 expression was statistically lower in gastric cancer than non-neoplastic mucosa and metastatic cancer in lymph node (p < 0. 05).", "output": {"entities": {"gene": [{"text": "BTG1", "start": 0, "end": 4}], "disease": [{"text": "non-neoplastic", "start": 63, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "A novel DKC1 mutation, severe combined immunodeficiency (T + B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.", "output": {"entities": {"gene": [{"text": "DKC1", "start": 8, "end": 12}], "disease": [{"text": "Hoyeraal-Hreidarsson syndrome", "start": 122, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DKC1", "start": 8, "end": 12}, "tail": {"text": "Hoyeraal-Hreidarsson syndrome", "start": 122, "end": 151}}]}}, "schema": []}
{"input": "We studied the mechanisms of innate immunity to oncolytic adenovirus Ad5/3-Delta24 in conventional treatment resistant non-CIC breast cancer cells, breast cancer CD44 (+)/CD24 (-/low) CIC population and normal breast tissue CD44 (+)/CD24 (-/low) stem cells.", "output": {"entities": {"gene": [{"text": "CD24", "start": 171, "end": 175}], "disease": [{"text": "adenovirus", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The primary granule proteins elastase (ELA2) and proteinase 3 (PR3) both contain the nonapeptide PR1, which can induce cytotoxic T lymphocyte (CTL) responses against chronic myeloid leukemia (CML) cells.", "output": {"entities": {"gene": [{"text": "PR1", "start": 97, "end": 100}], "disease": [{"text": "chronic myeloid leukemia", "start": 166, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "We studied 75 astrocytic tumors with different degrees of anaplasia including juvenile pilocytic astrocytoma (JPA), low-grade astrocytoma (LGA), anaplastic astrocytoma (AA), and glioblastoma multiforme (GBM) to determine whether standard CD44 (CD44s) can be used as a clinically useful marker distinguishing between low-and high-grade gliomas.", "output": {"entities": {"gene": [{"text": "LGA", "start": 139, "end": 142}], "disease": [{"text": "anaplasia", "start": 58, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In this sample of healthy families, plasma levels of IL-6 and TNF-alpha were differently affected by biological parameters including age, gender and smoking, and the impact of their respective polymorphisms was influenced by gender, age and BMI.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 53, "end": 57}], "disease": [{"text": "smoking", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations.", "output": {"entities": {"gene": [{"text": "SPECC1L", "start": 135, "end": 142}], "disease": [{"text": "Teebi hypertelorism syndrome", "start": 62, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPECC1L", "start": 135, "end": 142}, "tail": {"text": "Teebi hypertelorism syndrome", "start": 62, "end": 90}}]}}, "schema": []}
{"input": "Cyclin E2 induces genomic instability by mechanisms distinct from cyclin E1.", "output": {"entities": {"gene": [{"text": "cyclin E1", "start": 66, "end": 75}], "disease": [{"text": "genomic instability", "start": 18, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Together, our data unravel a previously unknown function of the RANK-RANKL molecule system in AML pathophysiology as well as NK cell function and suggest that neutralization of RANKL with therapeutic Abs may serve to reinforce NK cell reactivity in leukemia patients.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 69, "end": 74}], "disease": [{"text": "leukemia", "start": 249, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "Our results show that both USP9Y and Fam, the mouse infertility protein Usp9x, possess a protease activity specific to ubiquitin.", "output": {"entities": {"gene": [{"text": "Usp9x", "start": 72, "end": 77}], "disease": [{"text": "infertility", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Transcriptomic screens in breast cancer cell lines have identified a protein named anterior gradient-2 (AGR2) as a potentially novel oncogene overexpressed in estrogen receptor (ER) positive tumours.", "output": {"entities": {"gene": [{"text": "AGR2", "start": 104, "end": 108}], "disease": [{"text": "breast cancer", "start": 26, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGR2", "start": 104, "end": 108}, "tail": {"text": "breast cancer", "start": 26, "end": 39}}]}}, "schema": []}
{"input": "By using real-time quantitative PCR, we found that this was not the case: amplification of porphobilinogen deaminase (PBGD), a low copy household gene, was not different in blood samples in which a melanoma marker was not detected from groups in which this marker was detected more or less consistently (1-4 times).", "output": {"entities": {"gene": [{"text": "PBGD", "start": 118, "end": 122}], "disease": [{"text": "melanoma", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Our data expand the clinical spectrum of CASK mutations to include OS with cerebellar hypoplasia and congenital anomalies at the most severe end.", "output": {"entities": {"gene": [{"text": "CASK", "start": 41, "end": 45}], "disease": [{"text": "OS", "start": 67, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CASK", "start": 41, "end": 45}, "tail": {"text": "OS", "start": 67, "end": 69}}]}}, "schema": []}
{"input": "Karyotyping of the patient and of both parents was normal, and high-resolution cytogenetic analyses of chromosome 1, to which cathepsin K is mapped, revealed no abnormalities.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 126, "end": 137}], "disease": [{"text": "abnormalities", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The detection of a positive BRAF-V600E mutation in a colorectal cancer suggests a sporadic origin of the disease and the absence of germline alterations of MLH1, MSH2 and also of MSH6.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 162, "end": 166}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Results suggest that deficiency in MMR could promote tumorigenesis by inhibiting apoptotic responses to ROS-mediated DNA damages as ROS are continuously produced as a byproduct of normal metabolism.", "output": {"entities": {"gene": [{"text": "MMR", "start": 35, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The mRNA and protein expression of SOCS1 and SOCS3 in plaque and vessels were determined at different time points.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 45, "end": 50}], "disease": [{"text": "plaque", "start": 54, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The contemporary action of CCL20 on osteoblasts and osteoclasts involved in the maintenance of bone tissue homeostasis demonstrates the important role of this compartment in the evolution of RA, by showing a clear uncoupling between new bone formation and bone resorption.", "output": {"entities": {"gene": [{"text": "CCL20", "start": 27, "end": 32}], "disease": [{"text": "bone resorption", "start": 256, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that LTA can induce the secretion of the polymorphonuclear leukocyte chemotactic factor IL-8 and that LTA may be an important cellular mediator of inflammatory cell recruitment that characterizes immune responses to gram-positive bacterial infections.", "output": {"entities": {"gene": [{"text": "LTA", "start": 27, "end": 30}], "disease": [{"text": "bacterial infections", "start": 252, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Sef downregulation by Ras causes MEK1/2 to become aberrantly nuclear localized leading to polyploidy and neoplastic transformation.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 33, "end": 37}], "disease": [{"text": "neoplastic transformation", "start": 105, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "HBx induced deacetylation of the oxygen-dependent degradation domain of HIF-1 alpha, which was accompanied with dissociation of prolyl hydroxylases and von Hippel-Lindau tumor suppressor from HIF-1 alpha.", "output": {"entities": {"gene": [{"text": "von Hippel-Lindau tumor suppressor", "start": 152, "end": 186}], "disease": [{"text": "dissociation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "An Iranian family with Alzheimer' s disease caused by a novel APP mutation (Thr714Ala).", "output": {"entities": {"gene": [{"text": "APP", "start": 62, "end": 65}], "disease": [{"text": "Alzheimer' s disease", "start": 23, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APP", "start": 62, "end": 65}, "tail": {"text": "Alzheimer' s disease", "start": 23, "end": 43}}]}}, "schema": []}
{"input": "It is concluded that FLI-1 expression in solid pseudopapillary neoplasms is not associated with an EWS/FLI-1 translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 99, "end": 102}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.", "output": {"entities": {"gene": [{"text": "ARID1B gene", "start": 111, "end": 122}], "disease": [{"text": "hyperinsulinism", "start": 67, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.", "output": {"entities": {"gene": [{"text": "CHST6", "start": 78, "end": 83}], "disease": [{"text": "Macular corneal dystrophy", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CHST6", "start": 78, "end": 83}, "tail": {"text": "Macular corneal dystrophy", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "In the combined population, odds ratios were increased for TNF-308A carriers (NHL: OR (allelic) = 1. 13, P (trend) = 0. 0001; DLBCL: OR (allelic) = 1. 25, P (trend) = 3. 7 x 10 (-6); marginal zone lymphoma: OR (allelic) = 1. 35, P (trend) = 0. 004) and LTA 252G carriers (DLBCL: OR (allelic) = 1. 12, P (trend) = 0. 006; mycosis fungoides: OR (allelic) = 1. 44, P (trend) = 0. 015).", "output": {"entities": {"gene": [{"text": "LTA", "start": 253, "end": 256}], "disease": [{"text": "marginal zone lymphoma", "start": 183, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Recently, we showed that hypoxic induction of the extracellular matrix modifying enzyme lysyl oxidase (LOX) correlates with metastatic dissemination to the bone in estrogen receptor negative breast cancer and is essential for the formation of premetastatic osteolytic lesions.", "output": {"entities": {"gene": [{"text": "LOX", "start": 103, "end": 106}], "disease": [{"text": "hypoxic", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The expression of mRNAs for epidermal growth factor (EGF), transforming growth factor alpha (TGF alpha), EGFR, platelet-derived growth factor (PDGF) A and B chain, PDGF receptor (PDGFR), transforming growth factor beta (TGF beta), erbB-2 and estrogen receptor (ER) genes was first examined in 6 human esophageal carcinoma cell lines, 6 xenoplanted and 15 surgically resected esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "EGF", "start": 53, "end": 56}], "disease": [{"text": "esophageal", "start": 301, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "Thus, MED1 promoter methylation and gene silencing occur in sporadic CRC patients and represent an early event in CRC tumorigenesis.", "output": {"entities": {"gene": [{"text": "MED1", "start": 6, "end": 10}], "disease": [{"text": "tumorigenesis", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "At 38 weeks, RFC1 (+/-) mice developed local inflammatory lesions with or without epithelial dysplasia as well as adenocarcinomas, which were larger relative to RFC1 (+/+) mice.", "output": {"entities": {"gene": [{"text": "RFC1", "start": 13, "end": 17}], "disease": [{"text": "epithelial dysplasia", "start": 82, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "FISH + status for each gene was significantly associated with smoking history, squamous cell carcinoma (SCC) histology, and increased copy number of the other studied genes.", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "squamous cell carcinoma", "start": 79, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype-phenotype correlations.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 63, "end": 68}], "disease": [{"text": "mild", "start": 95, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The relation between MCV and ADH1C gene polymorphisms (ADH1C * 1 and 1C * 2) controlled for the amount of drinking, smoking, and age were investigated using both univariate and multivariate analysis.", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 29, "end": 34}], "disease": [{"text": "smoking", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Autoimmune thyroid diseases are characterized by intrathyroidal infiltration of CD4 (+) and CD8 (+) T lymphocytes reactive to self-thyroid antigens.", "output": {"entities": {"gene": [{"text": "CD4", "start": 80, "end": 83}], "disease": [{"text": "thyroid diseases", "start": 11, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Antibody-mediated blockade of either B7-H1 or the related molecule PD-1 revealed that their ability to limit inflammation relied on ligand interactions made by B7-H1 or PD-1.", "output": {"entities": {"gene": [{"text": "B7-H1", "start": 37, "end": 42}], "disease": [{"text": "inflammation", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Longitudinal associations of 20 fatty acids and three desaturase activities (Δ5 (20: 4n-6/20: 3n-6, D5D), Δ6 (18: 3n-6/18: 2n-6, D6D), stearoyl-CoA desaturase-1 (16: 1n-7/16: 0, SCD-1)) with type 2 diabetes incidence, and estimates of insulin sensitivity (Matsuda), secretion (ratio of insulin and glucose concentrations) and β-cell function (disposition index) by an oral glucose tolerance test were analyzed using Cox regression and linear mixed models.", "output": {"entities": {"gene": [{"text": "stearoyl-CoA desaturase", "start": 135, "end": 158}], "disease": [{"text": "regression", "start": 420, "end": 430}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data suggest that MBD4 inactivation may contribute to tumorigenesis, acting as a modifier of MMR-deficient cancer phenotype.", "output": {"entities": {"gene": [{"text": "MBD4", "start": 40, "end": 44}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We propose that: (i) IL-4-and IL-13-stimulated SCCA gene expression is mediated via STAT-1 and STAT-6 activation, and (ii) by suppressing the production, and most likely by interfering with the signaling of these cytokines, UG inhibits SCCA gene expression associated with airway inflammation in asthma.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 21, "end": 25}], "disease": [{"text": "inflammation", "start": 280, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "Our study shows that-26 5' UTR polymorphism in BRCA2 can modulate the fine-tuned regulation of the multifunctional gene BRCA2 and renders risk or protection according to the genotype status in the sporadic form of breast cancer, which is further influenced by the germline genetic backgrounds of codon 72 polymorphism of p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 321, "end": 324}], "disease": [{"text": "sporadic", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of SRp20 but not SRp30c mRNA was observed in bipolar disorder patients in both the depressive and remissive states.", "output": {"entities": {"gene": [{"text": "SRp20", "start": 24, "end": 29}], "disease": [{"text": "bipolar disorder", "start": 66, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRp20", "start": 24, "end": 29}, "tail": {"text": "bipolar disorder", "start": 66, "end": 82}}]}}, "schema": []}
{"input": "SiRNA knockdown of EZH2 increased miR-31 expression and decreased the antiapoptotic protein E2F6 (E2F transcription factor 6) (a target of miR-31), resulting in the sensitization of prostate cancer cells to docetaxel-induced apoptosis.", "output": {"entities": {"gene": [{"text": "E2F transcription factor 6", "start": 98, "end": 124}], "disease": [{"text": "prostate cancer", "start": 182, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that IRF-1 is a hallmark of the gliadin-mediated inflammation in CD and suggest that IFN-gamma/IRF-1 signaling pathway can play a key role in maintaining and expanding the local Th1 inflammatory response in this disease.", "output": {"entities": {"gene": [{"text": "Th1", "start": 198, "end": 201}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "A t (2; 19) (p13; p13. 2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis.", "output": {"entities": {"gene": [{"text": "p13", "start": 13, "end": 16}], "disease": [{"text": "giant", "start": 31, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "DNA of 37 aldosterone-producing secondary nodules was extracted from formalin-fixed paraffin-embedded tissues and genotyped for KCNJ5, ATP1A1, ATP2B3, and CACNA1D mutations.", "output": {"entities": {"gene": [{"text": "CACNA1D", "start": 155, "end": 162}], "disease": [{"text": "secondary", "start": 32, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Both noggin treatment and adenovirus BMP4-short hairpin RNA transduction improved endothelium-dependent relaxations in aortae and flow-mediated dilatation in mesenteric arteries of db/db mice.", "output": {"entities": {"gene": [{"text": "BMP4", "start": 37, "end": 41}], "disease": [{"text": "dilatation", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In this study we characterize a new BLM mutation in a BS patient leading to the replacement, in the C-terminal region of Blm, of a highly conserved cysteine by a phenylalanine in codon 1036.", "output": {"entities": {"gene": [{"text": "BLM", "start": 36, "end": 39}], "disease": [{"text": "BS", "start": 54, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLM", "start": 36, "end": 39}, "tail": {"text": "BS", "start": 54, "end": 56}}]}}, "schema": []}
{"input": "Single nucleotide polymorphisms (SNPs) of EPHX2 alter sEH activity and are associated with increased [rs41507953 (K55R)] or reduced [rs751141 (R287Q)] cardiovascular risk via modulation of fibrosis, inflammation or cardiac ion channels.", "output": {"entities": {"gene": [{"text": "EPHX2", "start": 42, "end": 47}], "disease": [{"text": "inflammation", "start": 199, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "It is suggested that SAA plays not only an important role in the development of AA amyloidosis but also interacts with events closely involved in metabolic syndrome as a high-and low-grade inflammatory modulator, respectively.", "output": {"entities": {"gene": [{"text": "SAA", "start": 21, "end": 24}], "disease": [{"text": "AA amyloidosis", "start": 80, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAA", "start": 21, "end": 24}, "tail": {"text": "AA amyloidosis", "start": 80, "end": 94}}]}}, "schema": []}
{"input": "Mutations in the PRKAG2 gene that regulates the gamma 2 subunit of the AMP-dependent protein kinase A have been associated with the development of AV accessory pathways, cardiac hypertrophy, and conduction system abnormalities.", "output": {"entities": {"gene": [{"text": "PRKAG2 gene", "start": 17, "end": 28}], "disease": [{"text": "cardiac hypertrophy", "start": 170, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Array comparative genomic hybridization of dissected tumor cells from both components revealed many shared chromosomal aberrations but also unique alterations of the HER2 + tumor cell population besides HER2 amplification.", "output": {"entities": {"gene": [{"text": "HER2", "start": 166, "end": 170}], "disease": [{"text": "chromosomal aberrations", "start": 107, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We also observed borderline significant associations between prostate aggressiveness at diagnosis and SNPs in AKR1C1 (rs11252845; P = 0. 005), UGT2B15 (rs2045100; P = 0. 007), and HSD17B12 (rs7932905; P = 0. 008).", "output": {"entities": {"gene": [{"text": "UGT2B15", "start": 143, "end": 150}], "disease": [{"text": "aggressiveness", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Serum concentrations of IL-2, IL-4, IL-10, and IL-12 were measured in patients with DCM (WHO criteria), relatives with asymptomatic left ventricular enlargement (LVE), patients with ischaemic heart failure (IHD), and healthy controls.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 30, "end": 34}], "disease": [{"text": "asymptomatic", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Involvement of the HLXB9 homeobox gene in Currarino syndrome.", "output": {"entities": {"gene": [{"text": "HLXB9", "start": 19, "end": 24}], "disease": [{"text": "Currarino syndrome", "start": 42, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLXB9", "start": 19, "end": 24}, "tail": {"text": "Currarino syndrome", "start": 42, "end": 60}}]}}, "schema": []}
{"input": "To investigate early alterations on bone mineral density (BMD) and RANK, RANKL and OPG mRNA expression in peripheral blood leukocytes (PBL) in children and adolescents with type 1 diabetes (T1D) and the relationship with glycemic control and bone biomarkers.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 73, "end": 78}], "disease": [{"text": "bone mineral density", "start": 36, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, overexpression of Sp1 in highly invasive lung adenocarcinoma cells increased expression of E-cadherin, a suppressor of metastasis, and attenuated the translocation of β-catenin into the cellular nucleus that leads to tumor malignancy.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 31, "end": 34}], "disease": [{"text": "translocation", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "These results show that the deficiency of ACTN3 is a secondary effect in these dystrophies.", "output": {"entities": {"gene": [{"text": "ACTN3", "start": 42, "end": 47}], "disease": [{"text": "secondary", "start": 53, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In order to maximize the anti-cancer activities of conditionally replicating adenoviral vectors (CRAd) vector, we for the first time generated a novel CRAd vector by inserting an expression cassette between E4 and the fiber using homologous recombination and tested this vector in melanoma cancer therapy.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 97, "end": 101}], "disease": [{"text": "cancer", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies.", "output": {"entities": {"gene": [{"text": "MRI", "start": 105, "end": 108}], "disease": [{"text": "enlargement", "start": 159, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The reduced synthesis of the profibrotic factor CTGF may contribute to a potential protective effect of hypoxic preconditioning in acute renal injury.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 48, "end": 52}], "disease": [{"text": "hypoxic", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Together, these results demonstrate that increased ChREBP can dissociate hepatic steatosis from insulin resistance, with beneficial effects on both glucose and lipid metabolism.", "output": {"entities": {"gene": [{"text": "ChREBP", "start": 51, "end": 57}], "disease": [{"text": "insulin resistance", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Type IV of the carbohydrate deficient glycoprotein syndromes (CDGS) is characterized by microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins.", "output": {"entities": {"gene": [{"text": "CDGS", "start": 62, "end": 66}], "disease": [{"text": "epilepsy", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Treatment with bLF decreased levels of tumor necrosis factor-α, IL-4, IL-6, and IL-10 cytokines, resulting in limited inflammation, which then restricted growth of the lung cancer.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 64, "end": 68}], "disease": [{"text": "inflammation", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the involvement of epithelial cell-derived neutrophil-activating protein 78 (ENA-78) in development of H. pylori-associated gastritis.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 108, "end": 114}], "disease": [{"text": "gastritis", "start": 155, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Growth factors, particularly insulin-like growth factor I (IGF-I) and IGF-I receptor (IGF-IR) in some nonendocrine and a few endocrine tumors, are thought important in recurrence, growth, and aggressiveness.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 59, "end": 64}], "disease": [{"text": "aggressiveness", "start": 192, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the importance of ID1 in malignant melanoma, tumour cell expression was examined by immunohistochemistry in 119 cases of nodular melanoma using tissue microarray technique, and related to multiple tumour markers including proliferation, p16 expression, angiogenesis and patient survival.", "output": {"entities": {"gene": [{"text": "ID1", "start": 30, "end": 33}], "disease": [{"text": "nodular melanoma", "start": 133, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly, the cellular level of NEIL1 protein strongly depends on the intact FA pathway suggesting that the hypersensitivity of FA cells to ICLs may, at least in part, arise from downregulation or degradation of NEIL1.", "output": {"entities": {"gene": [{"text": "NEIL1", "start": 36, "end": 41}], "disease": [{"text": "hypersensitivity", "start": 112, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Following confirmation of the natural history of this leukemia in the transgenic mice, we demonstrated that the transformed murine lymphocytes express relevant therapeutic targets (Bcl-2, Mcl-1, AKT, PDK1, and DNMT1), wild-type p53 status, and in vitro sensitivity to therapeutic agents relevant to the treatment of human CLL.", "output": {"entities": {"gene": [{"text": "PDK1", "start": 200, "end": 204}], "disease": [{"text": "leukemia", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Carriage of the natural killer (NK) receptor genotype KIR3DL1 * h/* y with its HLA-B * 57 ligand (* h/* y + B * 57) is associated with slow time to AIDS and low viral load (VL).", "output": {"entities": {"gene": [{"text": "KIR3DL1", "start": 54, "end": 61}], "disease": [{"text": "viral load", "start": 161, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In vitro, APOBEC3B expression was predominantly induced by treatment with a DNA-damaging drug in bladder cancer cell lines, and APOBEC3A expression was induced as part of the antiviral interferon-stimulated response in breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "APOBEC3B", "start": 10, "end": 18}], "disease": [{"text": "bladder cancer", "start": 97, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3B", "start": 10, "end": 18}, "tail": {"text": "bladder cancer", "start": 97, "end": 111}}]}}, "schema": []}
{"input": "Local cerebral metabolic rates for glucose were compared between patients with familial Alzheimer' s disease (FAD), sporadic Alzheimer' s Disease (SAD), and normal controls (NC) to determine if FAD is associated with a unique pattern of brain metabolism.", "output": {"entities": {"gene": [{"text": "FAD", "start": 110, "end": 113}], "disease": [{"text": "sporadic", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, the cyclin-dependent kinase inhibitor p21WAF1/CIP1 protein was undetectable in CF cells under hyperoxia, contrasting with increased levels of p21WAF1/CIP1 in normal cells.", "output": {"entities": {"gene": [{"text": "cyclin-dependent kinase inhibitor", "start": 18, "end": 51}], "disease": [{"text": "hyperoxia", "start": 108, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1. 14, 95% CI: 1. 04-1. 25, P = 0. 0047; BRCA2: HR = 1. 18 95% CI: 1. 04-1. 33, P = 0. 0079).", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 113, "end": 118}], "disease": [{"text": "fit", "start": 9, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that mutations of BRCA2 are rare in sporadic ovarian cancers, and that the proportion of ovarian cancers resulting from hereditary predisposition may be higher than previously suspected based on estimates derived from studies of highly penetrant genetic loci.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 37, "end": 42}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We observed an interaction between smoking and N-acetyltransferase 2 slow acetylation (OR, 1. 3; 95% confidence interval, 1. 0-1. 6) that was somewhat stronger when analyses were restricted to studies conducted in Europe (OR, 1. 5; confidence interval, 1. 1-1. 9), a pooling that included nearly 80% of the collected data.", "output": {"entities": {"gene": [{"text": "N-acetyltransferase 2", "start": 47, "end": 68}], "disease": [{"text": "smoking", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.", "output": {"entities": {"gene": [{"text": "MYO7A", "start": 45, "end": 50}], "disease": [{"text": "USH1", "start": 104, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYO7A", "start": 45, "end": 50}, "tail": {"text": "USH1", "start": 104, "end": 108}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the roles of TRX and TBP-2 in the pathophysiology of endometriosis.", "output": {"entities": {"gene": [{"text": "TBP", "start": 62, "end": 65}], "disease": [{"text": "endometriosis", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The frequency of heterozygous protein C and protein S deficiency, detected by measuring total plasma antigen, in a group (n = 141) of young unrelated patients (less than 45 years old) with venous thrombotic disease was studied and compared to that of antithrombin III, fibrinogen, and plasminogen deficiencies.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 251, "end": 267}], "disease": [{"text": "fibrinogen", "start": 269, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "The T2DM and IFG groups currently have higher levels of fasting triglycerides, greater body mass index (BMI) and higher systolic blood pressure than normoglycemics and this difference was already apparent in midlife.", "output": {"entities": {"gene": [{"text": "IFG", "start": 13, "end": 16}], "disease": [{"text": "body mass index", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Patient A had enlarged pituitary gland (pituitary height: 9-10 mm), demonstrated by serial MRI carried out from age 5 to 8. 5 yr, small pituitary gland (4 mm) at age 10 yr and pituitary enlargement (11 mm) at age 19 yr.", "output": {"entities": {"gene": [{"text": "MRI", "start": 91, "end": 94}], "disease": [{"text": "enlargement", "start": 186, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that the CArG-enhanced survivin promoter markedly improved the proliferative activity of the oncolytic adenovirus in HCC cells, thereby augmenting hSulf-1 expression and inducing cancer cell apoptosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 133, "end": 136}], "disease": [{"text": "adenovirus", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Adhesion assay revealed that the adhesion of THP-1 to HTSMCs challenged with ET-1 was increased, which was attenuated by the inhibitors of ET receptors, Src, MMPs, EGFR, PDGFR, PI3K, AKT, p42/p44 MAPK, and p300.", "output": {"entities": {"gene": [{"text": "AKT", "start": 183, "end": 186}], "disease": [{"text": "adhesion", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The present study suggests that in humans and in rats, septic shock is associated with decreased ACTH synthesis that is not compensated by its two natural secretagogues, AVP and CRH.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 97, "end": 101}], "disease": [{"text": "septic shock", "start": 55, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.", "output": {"entities": {"gene": [{"text": "growth hormone receptor", "start": 60, "end": 83}], "disease": [{"text": "Laron dwarfism", "start": 93, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "growth hormone receptor", "start": 60, "end": 83}, "tail": {"text": "Laron dwarfism", "start": 93, "end": 107}}]}}, "schema": []}
{"input": "Chromosome 11q23 translocations in acute myeloid and lymphoid leukemia cells demonstrate myeloid lymphoid leukemia (MLL) fusions with over 40 gene partners, like AF9 and AF4 on chromosomes 9 and 4, respectively.", "output": {"entities": {"gene": [{"text": "AF4", "start": 170, "end": 173}], "disease": [{"text": "lymphoid leukemia", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "IL-8 and ENA-78 protein expression was most pronounced in pancreatic carcinoma specimens, showing an 11-fold and 17-fold overexpression in comparison with non-affected neighbouring tissues, a 66-fold and 24-fold upregulation compared to pancreatic cystadenoma, and a 6-fold and 9-fold overexpression with respect to chronic pancreatitis, respectively (p < 0. 05 between all groups).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 0, "end": 4}], "disease": [{"text": "pancreatic cystadenoma", "start": 237, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Identification of ATRAP as a novel receptor binding modulator of adipose tissue inflammation not only has cardiovascular significance but may have generalized implication in the regulation of tissue function.", "output": {"entities": {"gene": [{"text": "ATRAP", "start": 18, "end": 23}], "disease": [{"text": "inflammation", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Following BRAF inhibition, RHOB activates AKT whose inhibition causes hypersensitivity of BRAF-mutant melanoma cells to BRAF inhibitors.", "output": {"entities": {"gene": [{"text": "RHOB", "start": 27, "end": 31}], "disease": [{"text": "hypersensitivity", "start": 70, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Thus, our data suggest that the altered expression of DNMTs is state dependent and that the aberrant epigenetic gene regulations caused by the altered expression of DNMT1 and DNMT3B may be associated with the pathophysiology of mood disorders.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 165, "end": 170}], "disease": [{"text": "mood disorders", "start": 228, "end": 242}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT1", "start": 165, "end": 170}, "tail": {"text": "mood disorders", "start": 228, "end": 242}}]}}, "schema": []}
{"input": "In this study, we have explored changes in the expression of telomere-associated genes POT1, TIN2, RAP1 and TPP1, in patients with monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM).", "output": {"entities": {"gene": [{"text": "TPP1", "start": 108, "end": 112}], "disease": [{"text": "myeloma", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of the AKT pathway inhibits cell proliferation and promotes apoptosis of leiomyoma cells.", "output": {"entities": {"gene": [{"text": "AKT", "start": 18, "end": 21}], "disease": [{"text": "leiomyoma", "start": 84, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In mouse hindlimb ischemia model (N = 30/group), autoamputation (limb loss) occurred in 87% and 68% of the mice with saline and Ad encoding β-galactosidase (Ad-LacZ), respectively, whereas only 23% of the mice injected with Ad-F-UCP showed autoamputation after 21 days of treatment.", "output": {"entities": {"gene": [{"text": "UCP", "start": 229, "end": 232}], "disease": [{"text": "ischemia", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "CD200Fc treatment suppressed macrophage and microglial accumulation within the CNS, in part through downregulation of adhesion molecules VLA-4 and LFA-1, which are necessary for macrophage migration.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 147, "end": 152}], "disease": [{"text": "adhesion", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP).", "output": {"entities": {"gene": [{"text": "FMRP", "start": 117, "end": 121}], "disease": [{"text": "Fragile X syndrome", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 117, "end": 121}, "tail": {"text": "Fragile X syndrome", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Comparable values of EBV prevalence were detected in LAS with follicular hyperplasia (12/16, 75%) and with follicular involution (4/4, 100%).", "output": {"entities": {"gene": [{"text": "LAS", "start": 53, "end": 56}], "disease": [{"text": "follicular hyperplasia", "start": 62, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "All patients with C4AQ0 exhibited more than 5 ACR criteria including malar rash, oral ulcers, renal disorder, immunological disorder, anti-nuclear antibody, without hematological disorder.", "output": {"entities": {"gene": [{"text": "ACR", "start": 46, "end": 49}], "disease": [{"text": "malar rash", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "A novel charged trinuclear platinum complex effective against cisplatin-resistant tumours: hypersensitivity of p53-mutant human tumour xenografts.", "output": {"entities": {"gene": [{"text": "p53", "start": 111, "end": 114}], "disease": [{"text": "hypersensitivity", "start": 91, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Besides analyzing different environmental factors, such as nitrosamines and zinc deficiency, cyclin D1 transgenic mice were crossbred with p53-deficient mice.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 93, "end": 102}], "disease": [{"text": "zinc deficiency", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In this report we show that the dendritic cell-specific chemokine, dendritic cell-derived CC chemokine 1 (DC-CK1), which is produced in humans and acts on naive lymphocytes, can enhance Ag-specific CD8 (+) T cell responses when coadministered with either irradiated Plasmodium yoelii sporozoites or a recombinant adenovirus expressing the P. yoelii circumsporozoite protein in mice.", "output": {"entities": {"gene": [{"text": "DC-CK1", "start": 106, "end": 112}], "disease": [{"text": "adenovirus", "start": 313, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "Here we show that in rat hippocampal CA1 neurons, forebrain ischemia induces the phosphorylation of the N-methyl-D-aspartate (NMDA) receptor 2A subunit at Ser1232 (phospho-Ser1232).", "output": {"entities": {"gene": [{"text": "CA1", "start": 37, "end": 40}], "disease": [{"text": "ischemia", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Thirty-nine hyperplastic polyps from 26 CUC patients, 39 sporadic hyperplastic polyps from 29 age-and sex-matched patients without CUC, and 26 colonic mucosal biopsies from 22 patients with CUC but without hyperplastic polyps were analyzed by polymerase chain reaction for loss of heterozygosity of APC, 3p, p53, and p16 and for mutations in codons 12, 13, and 61 of the K-ras gene.", "output": {"entities": {"gene": [{"text": "p53", "start": 308, "end": 311}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "To investigate the roles of inherited polymorphisms in the MBL2 gene and exposure to viral infection in the development of a range of adverse pregnancy outcomes, including birthweight < 10th percentile (small-for-gestational age, SGA), antepartum hemorrhage (APH), pregnancy-induced hypertensive disorders (PIHD), and preterm birth (PTB).", "output": {"entities": {"gene": [{"text": "APH", "start": 259, "end": 262}], "disease": [{"text": "birthweight", "start": 172, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "ARHI represents a modulator of cancer cell proliferation and may play an important role in the development of pancreatic cancer.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 0, "end": 4}], "disease": [{"text": "pancreatic cancer", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Patients with CC/CT genotypes showed an elevated peak viremia level and significantly lower CD4 (+) T-cell count at multiple time points during the first year of primary infection, and a significantly higher risk of rapid decline of the CD4 (+) T-cell count to below 350 cells/μl.", "output": {"entities": {"gene": [{"text": "CD4", "start": 92, "end": 95}], "disease": [{"text": "viremia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the effect of genotype misclassification on odds ratio estimates and sample size requirements for a study of NAT2 acetylation status, smoking, and bladder cancer risk.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 122, "end": 126}], "disease": [{"text": "smoking", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We investigated possible protective effects of erythropoietin against doxorubicin-induced cardiomyopathy.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 47, "end": 61}], "disease": [{"text": "cardiomyopathy", "start": 90, "end": 104}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "erythropoietin", "start": 47, "end": 61}, "tail": {"text": "cardiomyopathy", "start": 90, "end": 104}}]}}, "schema": []}
{"input": "Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.", "output": {"entities": {"gene": [{"text": "ITGA8", "start": 123, "end": 128}], "disease": [{"text": "ovarian cancer", "start": 4, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ITGA8", "start": 123, "end": 128}, "tail": {"text": "ovarian cancer", "start": 4, "end": 18}}]}}, "schema": []}
{"input": "The proband from the second family has HH and inherited a premature stop codon in RTEL1 from his father and a missense mutation from his mother, who also has short telomeres.", "output": {"entities": {"gene": [{"text": "RTEL1", "start": 82, "end": 87}], "disease": [{"text": "HH", "start": 39, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RTEL1", "start": 82, "end": 87}, "tail": {"text": "HH", "start": 39, "end": 41}}]}}, "schema": []}
{"input": "The long pentraxin PTX3 as a correlate of cancer-related inflammation and prognosis of malignancy in gliomas.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 19, "end": 23}], "disease": [{"text": "gliomas", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Moreover, GTN down-regulated translocation of the p50/p65 heterodimer to the nucleus, prevented binding of NF-κB to its DNA response element and reduced TNF-α-activated interleukin-8 (IL-8) expression.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 153, "end": 158}], "disease": [{"text": "translocation", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 117, "end": 121}], "disease": [{"text": "cognitive disorder", "start": 44, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We have identified the role of oxidation resistance 1 (Oxr1) as a vital protein that controls the sensitivity of neuronal cells to oxidative stress; mice lacking Oxr1 display cerebellar neurodegeneration, and neurons are less susceptible to exogenous stress when the gene is over-expressed.", "output": {"entities": {"gene": [{"text": "Oxr1", "start": 55, "end": 59}], "disease": [{"text": "neurodegeneration", "start": 186, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The levels antiapoptotic molecules, Bcl-2 and Bcl-XL decreased, whereas the proapoptotic molecules, Bax and caspase 6, increased in lupus T cells.", "output": {"entities": {"gene": [{"text": "Bcl-XL", "start": 46, "end": 52}], "disease": [{"text": "lupus", "start": 132, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "High expression of calcium-binding proteins, S100A10, S100A11 and CALM2 in anaplastic large cell lymphoma.", "output": {"entities": {"gene": [{"text": "CALM2", "start": 66, "end": 71}], "disease": [{"text": "large cell lymphoma", "start": 86, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "MRI showed agenesis of corpus callosum (ACC), an interhemispheric cyst, periventricular nodular heterotopia (PVNH), and extensive left frontal polymicrogyria (PMG).", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "periventricular nodular heterotopia", "start": 72, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Correlating with this, high psoriasin expression in human IBC is associated with increased angiogenesis and worse clinical outcome, and psoriasin mRNA levels are coordinately regulated with VEGF and other genes related to hypoxia and mitochondrial reactive oxygen species (ROS).", "output": {"entities": {"gene": [{"text": "psoriasin", "start": 28, "end": 37}], "disease": [{"text": "hypoxia", "start": 222, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Fifty-eight samples from 29 HCC patients (obtained in both neoplastic and peritumoral tissues), 22 from chronic hepatitis (CH) and 10 controls (cholecystectomy patients-CON) were examined.", "output": {"entities": {"gene": [{"text": "HCC", "start": 28, "end": 31}], "disease": [{"text": "chronic hepatitis", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We investigated the mRNA expression of OLIG1 and OLIG2, as well as four other genes involved in oligodendrocyte development (E2A, HEB, NKX2. 2, and PDGFRA) in a panel of 70 gliomas, including 9 oligodendrogliomas, 11 anaplastic oligodendrogliomas, 5 oligoastrocytomas, 10 anaplastic oligoastrocytomas, 10 diffuse astrocytomas, 10 anaplastic astrocytomas, and 15 glioblastomas.", "output": {"entities": {"gene": [{"text": "HEB", "start": 130, "end": 133}], "disease": [{"text": "astrocytomas", "start": 255, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "LFIRE-1 is highly homologous to HFREP-1 with discrepancy at 5' untranslated region (UTR) and encodes the same fibrinogen-related protein, which suggest that these two sequences might be alternative splicing forms of the same gene, LFIRE-1/HFREP-1, located at human chromosome 8p22.", "output": {"entities": {"gene": [{"text": "HFREP-1", "start": 32, "end": 39}], "disease": [{"text": "fibrinogen", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We show that several MYCN-amplified cell lines harbor additional chromosomal aberrations targeting p53 and/or pRB pathway components, including CDK4/CCND1/MDM2 amplifications, p16INK4A/p14ARF deletions or TP53 mutations.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 155, "end": 159}], "disease": [{"text": "chromosomal aberrations", "start": 65, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 9, "end": 17}], "disease": [{"text": "sporadic", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "PDZK1 interacts with N-methyl-d-aspartate receptors and neuroligins, which have been implicated in the etiologies of schizophrenia and ASD.", "output": {"entities": {"gene": [{"text": "PDZK1", "start": 0, "end": 5}], "disease": [{"text": "schizophrenia", "start": 117, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDZK1", "start": 0, "end": 5}, "tail": {"text": "schizophrenia", "start": 117, "end": 130}}]}}, "schema": []}
{"input": "In vivo imaging studies with tumor xenografts derived from MDA-MD-231 cells engineered to express tdTomato red fluorescence protein under regulation of hypoxia response elements identified co-localization between hypoxic fluorescent regions and increased concentration of (125) I-radiolabeled CD44 antibody.", "output": {"entities": {"gene": [{"text": "CD44", "start": 293, "end": 297}], "disease": [{"text": "hypoxic", "start": 213, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that IL-2 induces inflammation at tumor sites with three predominant secondary effects: activation of antigen-presenting monocytes; massive production of chemoattractants that may recruit other immune cells to the tumor (including MIG and PARC, which are specific for T cells); and activation of cytolytic mechanisms in monocytes (calgranulin, grancalcin) and NK cells (NKG5, NK4).", "output": {"entities": {"gene": [{"text": "IL-2", "start": 25, "end": 29}], "disease": [{"text": "inflammation", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The results favor a role for beta-endorphin (1-31) and dynorphin (1-13) in the hypotension centrally mediated by alpha-methyldopa.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 29, "end": 43}], "disease": [{"text": "hypotension", "start": 79, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-endorphin", "start": 29, "end": 43}, "tail": {"text": "hypotension", "start": 79, "end": 90}}]}}, "schema": []}
{"input": "In our previous linkage study on 148 Chinese hypertensive families, the regions at or near the LPL gene were found to be associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP).", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 95, "end": 103}], "disease": [{"text": "diastolic blood pressure", "start": 171, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Results suggest that short TSLP prevents airway inflammation in a chemical-induced asthma model, which might be associated with the inhibitions of HMGB1-RAGE and long TSLP expression and STAT5 (Y694) phosphorylation.", "output": {"entities": {"gene": [{"text": "TSLP", "start": 27, "end": 31}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TSLP", "start": 27, "end": 31}, "tail": {"text": "inflammation", "start": 48, "end": 60}}]}}, "schema": []}
{"input": "Samples were harvested 20 hours post-CLP (i. e., severe sepsis).", "output": {"entities": {"gene": [{"text": "CLP", "start": 37, "end": 40}], "disease": [{"text": "severe sepsis", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Twelve of 19 patients with common variable immunodeficiency (63%, P less than 0. 001) and 9 of 16 patients with IgA deficiency (56%, P less than 0. 01) had rare C2 alleles and/or C4A and 21-hydroxylase A deletions, whereas these gene features were seen in only 5 of 34 healthy individuals (15%) in the control group.", "output": {"entities": {"gene": [{"text": "C4A", "start": 179, "end": 182}], "disease": [{"text": "common variable immunodeficiency", "start": 27, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "ENTPD6 is a promising molecular biomarker of cisplatin resistance in testicular cancer, and also a novel therapeutical target modulating cisplatin resistance in testicular cancer.", "output": {"entities": {"gene": [{"text": "ENTPD6", "start": 0, "end": 6}], "disease": [{"text": "testicular cancer", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Conclusively, truncating mutations within the P0 intracellular domain do not necessarily cause a severe phenotype such as Dejerine-Sottas syndrome (DSS) or congenital hypomyelinating neuropathy (CHN), but can result in mild or moderate CMT1B with intrafamilial clinical variability.", "output": {"entities": {"gene": [{"text": "CHN", "start": 195, "end": 198}], "disease": [{"text": "congenital hypomyelinating neuropathy", "start": 156, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Th1 and Th2 cytokine profiles in sickle cell disease.", "output": {"entities": {"gene": [{"text": "Th1", "start": 0, "end": 3}], "disease": [{"text": "sickle cell disease", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Our results identify PIASy as a transcriptional corepressor of AR and suggest that different PIAS proteins have distinct effects on AR signaling in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "PIASy", "start": 21, "end": 26}], "disease": [{"text": "prostate cancer", "start": 148, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to determine the CpG methylation pattern of the UCHL1 promoter, as well as the mutation spectrum and the expression pattern of P53 in sporadic colorectal cancer (CRC) from Tunisian patients.", "output": {"entities": {"gene": [{"text": "P53", "start": 151, "end": 154}], "disease": [{"text": "sporadic", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member.", "output": {"entities": {"gene": [{"text": "CCDC11", "start": 25, "end": 31}], "disease": [{"text": "laterality", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Mucopolysaccharidosis type II (Hunter syndrome): mutation \" hot spots \" in the iduronate-2-sulfatase gene.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 79, "end": 100}], "disease": [{"text": "Hunter syndrome", "start": 31, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 79, "end": 100}, "tail": {"text": "Hunter syndrome", "start": 31, "end": 46}}]}}, "schema": []}
{"input": "Transient transfection of rat HSP70 promoter/chloramphenicol acetyltransferase constructs into H9c2 cells shows that the presence of either of the two HSEs is sufficient for heat-shock inducibility.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 30, "end": 35}], "disease": [{"text": "shock", "start": 179, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The levels of body mass index (BMI), insulin (INS), total cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL), red blood cell (RBC), Hemoglobin (HB) and hematocrit (HCT) in campers were significantly declined by the combined intervention (p < 0. 05).", "output": {"entities": {"gene": [{"text": "INS", "start": 46, "end": 49}], "disease": [{"text": "body mass index", "start": 14, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel missense mutation, c. 424G > C (p. Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections.", "output": {"entities": {"gene": [{"text": "PRPS1", "start": 71, "end": 76}], "disease": [{"text": "recurrent respiratory infections", "start": 192, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "PTH1R was observed on osteoblasts in bone around the tumor but no expression was observed on ameloblastoma cells in tumor parenchyma by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "PTH1R", "start": 0, "end": 5}], "disease": [{"text": "ameloblastoma", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Most Finnish patients with MGA1 carry the disease-specific P1297L mutation (FM1) in the IF-B (12) receptor, cubilin.", "output": {"entities": {"gene": [{"text": "cubilin", "start": 108, "end": 115}], "disease": [{"text": "MGA1", "start": 27, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cubilin", "start": 108, "end": 115}, "tail": {"text": "MGA1", "start": 27, "end": 31}}]}}, "schema": []}
{"input": "Restoration of RFC pathway function by genetic or pharmacological Cdc42 inhibition enabled harnessing of pro-oxidant effects of low µM tamoxifen (TMX) concentrations-concentrations utilized in trials on multiple tumour types-to suppress division and induce death of BLBC cells in vitro and to confer TMX sensitivity in vivo through oestrogen receptor-α-independent mechanisms.", "output": {"entities": {"gene": [{"text": "TMX", "start": 146, "end": 149}], "disease": [{"text": "tumour", "start": 212, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "In addition, after 4 weeks of EPA treatment, as compared with TAC/CRPtg, TAC/CRPtg/EPA mice demonstrated reduced heart and lung weights, increased left ventricular fractional shortening, and decreased left ventricular end-diastolic pressure, together with decreased cardiac hypertrophy, fibrosis, and improved cardiac function.", "output": {"entities": {"gene": [{"text": "EPA", "start": 30, "end": 33}], "disease": [{"text": "diastolic pressure", "start": 222, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction.", "output": {"entities": {"gene": [{"text": "CEP41", "start": 18, "end": 23}], "disease": [{"text": "JBTS", "start": 48, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEP41", "start": 18, "end": 23}, "tail": {"text": "JBTS", "start": 48, "end": 52}}]}}, "schema": []}
{"input": "Alternatives to hydroxyurea are imatinib for the treatment of CML and interferon alpha-2a or anagrelide for essential thrombocytosis.", "output": {"entities": {"gene": [{"text": "interferon alpha-2a", "start": 70, "end": 89}], "disease": [{"text": "essential thrombocytosis", "start": 108, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon alpha-2a", "start": 70, "end": 89}, "tail": {"text": "essential thrombocytosis", "start": 108, "end": 132}}]}}, "schema": []}
{"input": "In conclusion, INSR mutations associated with RMS were identified.", "output": {"entities": {"gene": [{"text": "INSR", "start": 15, "end": 19}], "disease": [{"text": "RMS", "start": 46, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "INSR", "start": 15, "end": 19}, "tail": {"text": "RMS", "start": 46, "end": 49}}]}}, "schema": []}
{"input": "Both positive rate and mRNA level of APRIL were significantly higher in colorectal carcinoma tissues than in para-tumor tissues (76. 8% vs. 16. 1%, 0. 16 +/-0. 05 vs. 0. 71 +/-0. 08, both P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "APRIL", "start": 37, "end": 42}], "disease": [{"text": "colorectal carcinoma", "start": 72, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APRIL", "start": 37, "end": 42}, "tail": {"text": "colorectal carcinoma", "start": 72, "end": 92}}]}}, "schema": []}
{"input": "In addition, we found that lymphoproliferative manifestations resolved with age, whereas immunological disorders [ie, hypergammaglobulinemia and detection of TcR alphabeta (+) CD4 (-) CD8 (-) lymphocytes] persisted.", "output": {"entities": {"gene": [{"text": "CD4", "start": 176, "end": 179}], "disease": [{"text": "hypergammaglobulinemia", "start": 118, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Changes in orexin (hypocretin) neuronal expression with normal aging in the human hypothalamus.", "output": {"entities": {"gene": [{"text": "hypocretin", "start": 19, "end": 29}], "disease": [{"text": "aging", "start": 63, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "No significant changes in complexin 1, VGAT, complexin 2, VGluT1, dysbindin, NAV2, or VAMP1 mRNA expression were found; however, expression of mRNAs associated with plasticity/cytoskeletal modification (GAP43 and NAV1) was reduced in schizophrenia.", "output": {"entities": {"gene": [{"text": "VGluT1", "start": 58, "end": 64}], "disease": [{"text": "schizophrenia", "start": 234, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGluT1", "start": 58, "end": 64}, "tail": {"text": "schizophrenia", "start": 234, "end": 247}}]}}, "schema": []}
{"input": "The specific expression and subcellular distribution of S100A11 were examined in 78 paraffin-embedded lung cancers, 2 benign lung diseases as well as 22 healthy lung tissues by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "S100A11", "start": 56, "end": 63}], "disease": [{"text": "lung diseases", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "In total, 30 CFTR mutations account for 93. 9% of the 412 Northern Irish CF chromosomes tested.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 13, "end": 17}], "disease": [{"text": "CF", "start": 13, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 13, "end": 17}, "tail": {"text": "CF", "start": 13, "end": 15}}]}}, "schema": []}
{"input": "In conclusion, IL-15 seems to be able to reduce/suppress protein loss and apoptosis related to muscle wasting during cancer cachexia in experimental animals.", "output": {"entities": {"gene": [{"text": "IL-15", "start": 15, "end": 20}], "disease": [{"text": "muscle wasting", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The BDNF polymorphism was associated with atrophy of the PFC in MDD patients, which suggests that the BDNF Val66Met polymorphism may play an important role in the pathogenesis of early stages of MDD.", "output": {"entities": {"gene": [{"text": "PFC", "start": 57, "end": 60}], "disease": [{"text": "atrophy", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The study was undertaken to identify the association of RANTES promoter polymorphisms with atopy and asthma using family-based association tests (FBATs) and generation-specific case-control analyses.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 56, "end": 62}], "disease": [{"text": "atopy", "start": 91, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Cells from 74 probands (group B) produced and secreted normal and abnormal type I procollagen molecules; these patients were usually short and had bone deformity and dentinogenesis imperfecta, and many had grey or blue-grey sclerae.", "output": {"entities": {"gene": [{"text": "type I procollagen", "start": 75, "end": 93}], "disease": [{"text": "bone deformity", "start": 147, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "A reason for these discrepancies may be the fact that most studies used the nontumorous tissue surrounding the HCC lesion as a control, which is almost invariably affected by cirrhosis or chronic hepatitis, as well as other pathological conditions such as hepatitis B virus (HBV) or hepatitis C virus (HCV) infection.", "output": {"entities": {"gene": [{"text": "HCC", "start": 111, "end": 114}], "disease": [{"text": "chronic hepatitis", "start": 188, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Although microconversion events are the main cause of mutations in the CYP21 gene, random mutations with a common origin can also be the cause of 21-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 71, "end": 76}], "disease": [{"text": "21-hydroxylase deficiency", "start": 146, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 71, "end": 76}, "tail": {"text": "21-hydroxylase deficiency", "start": 146, "end": 171}}]}}, "schema": []}
{"input": "POC from patients attending a recurrent miscarriage clinic and from terminations of pregnancy for non-medical reasons were examined histologically with particular regard to the presence or absence of vascular or intervillous thromboses and decidual endovascular trophoblast invasion.", "output": {"entities": {"gene": [{"text": "POC", "start": 0, "end": 3}], "disease": [{"text": "thromboses", "start": 225, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Recombinant adenovirus encoding FAT10 small interfering RNA inhibits HCC growth in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "HCC", "start": 69, "end": 72}], "disease": [{"text": "adenovirus", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.", "output": {"entities": {"gene": [{"text": "RPGR", "start": 0, "end": 4}], "disease": [{"text": "impaired hearing", "start": 52, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPGR", "start": 0, "end": 4}, "tail": {"text": "impaired hearing", "start": 52, "end": 68}}]}}, "schema": []}
{"input": "It activates phosphorylation of Shc, and p44/42 MAPK (mitogen activated protein kinase) in the ERK (extracellular regulated kinase) signaling pathway; PI3K (phosophatidyl inositol-3-kinase), AKT/protein kinase B, and p70S6kinase in the phosophatidyl inositol-3-kinase pathway; and focal adhesion kinase in the adhesion/motility pathway.", "output": {"entities": {"gene": [{"text": "protein kinase B", "start": 195, "end": 211}], "disease": [{"text": "adhesion", "start": 287, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "Here we have investigated the effect of hypoxia on CD44 and two of its isoforms in MDA-MB-231 and SUM-149 triple negative human breast cancer cells and MDA-MB-231 tumors using imaging and molecular characterization.", "output": {"entities": {"gene": [{"text": "CD44", "start": 51, "end": 55}], "disease": [{"text": "hypoxia", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The mean telomere length (MTL) in HCC was significantly shorter compared with chronic hepatitis (P < 0. 0001).", "output": {"entities": {"gene": [{"text": "HCC", "start": 34, "end": 37}], "disease": [{"text": "chronic hepatitis", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We genotyped GSTA2_448_C > G (rs2180314), GSTA2_742_A > C (rs6577), GSTM2_-832_T > C (rs638820), GSTO1_-1242_G > A (rs2164624), GSTO1_419_A > C (rs4925), GSTO2_-183_A > G (rs2297235), GSTO2_342_A > G (rs156697), GSTZ1_-4378_A > G (rs1046428), and GSTZ1_94_G > A (rs3177427) by MALDI-TOF MS in the German GENICA breast cancer case-control collection of 1021 cases and 1015 controls and performed breast cancer risk association in general and with respect to the stratifications: menopausal status, family history of breast or ovarian cancer, use of oral contraceptives, use of hormone therapy, body mass index, and smoking as well as histopathological tumor characteristics including hormone receptor status, grade, histology, and node status.", "output": {"entities": {"gene": [{"text": "GSTZ1", "start": 212, "end": 217}], "disease": [{"text": "smoking", "start": 614, "end": 621}]}, "relations": {}}, "schema": []}
{"input": "Tumors with higher expression (upper 15%) of GLI1 or GLI3 mRNA were associated with poor survival in stage II-IV (5-year overall survival rates: GLI1 mRNA low, 41. 7% vs. high, 20. 0%, P = 0. 0074; GLI3 mRNA low, 43. 1% vs. high, 13. 3%, P = 0. 0062) and stage III-IV (5-year overall survival rates: GLI1 mRNA low, 34. 0% vs. high, 0%, P = 0. 0012; GLI3 mRNA low, 33. 4% vs. high, 7. 7%, P = 0. 057) lung adenocarcinoma patients.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 53, "end": 57}], "disease": [{"text": "lung adenocarcinoma", "start": 400, "end": 419}]}, "relations": {}}, "schema": []}
{"input": "Circulating miRNAs are emerging biomarkers in heart failure, type 2 diabetes and other disease states; however, using plasma miRNAs as biomarkers for the diagnosis of APE is still unknown.", "output": {"entities": {"gene": [{"text": "APE", "start": 167, "end": 170}], "disease": [{"text": "heart failure", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Finally, we showed that detailed electroretinography is an effective way to discriminate among patients with mutations in either TRPM1 or GRM6, another autosomal-recessive cCSNB disease gene.", "output": {"entities": {"gene": [{"text": "TRPM1", "start": 129, "end": 134}], "disease": [{"text": "CSNB", "start": 173, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPM1", "start": 129, "end": 134}, "tail": {"text": "CSNB", "start": 173, "end": 177}}]}}, "schema": []}
{"input": "Also, the combinations of different GSTM1, GSTT1, and GSTP1 genotypes were not an increased risk of presbycusis (p > 0. 05).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 54, "end": 59}], "disease": [{"text": "presbycusis", "start": 100, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We examined specimens--1 of pinguecula, 13 of pterygia (7 primary, 1 recurrent, 1 with dysplasia, and 4 primary not tested for p53), and 10 of limbal tumors (2 with actinic keratosis dysplasia, 1 with conjunctival intraepithelial neoplasia, 3 with carcinoma in situ, and 4 with squamous cell carcinoma)-expressing p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 127, "end": 130}], "disease": [{"text": "conjunctival intraepithelial neoplasia", "start": 201, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Finally, we propose a hypothetical sequence of the pathogenic steps linking sporadic AD, FAD, Abeta production, mitochondrial dysfunction with caspase pathway, and neuronal loss.", "output": {"entities": {"gene": [{"text": "FAD", "start": 89, "end": 92}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry for IMP3, CK8/18, and CK14 was performed on 39 cases of invasive breast carcinomas with BRCA mutation (24 BRCA1, 14 BRCA2, and 1 dual BRCA1/BRCA2) and 54 cases of sporadic invasive breast carcinomas.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 25, "end": 29}], "disease": [{"text": "sporadic", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Moreover, it appears that preferential premolar agenesis is associated with TGFA, and patients with a family history of tooth agenesis would have an associated haplotype.", "output": {"entities": {"gene": [{"text": "TGFA", "start": 76, "end": 80}], "disease": [{"text": "tooth agenesis", "start": 120, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Using direct sequencing and a quantitative multiplex PCR of short fluorescent fragments (QMPSF)-based assay allowing accurate detection of both total and partial NSD1 deletions, we identified NSD1 abnormalities in 104 patients corresponding to 102 Sotos families (90%).", "output": {"entities": {"gene": [{"text": "NSD1", "start": 162, "end": 166}], "disease": [{"text": "abnormalities", "start": 197, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.", "output": {"entities": {"gene": [{"text": "ISL1", "start": 25, "end": 29}], "disease": [{"text": "Bladder Cancer", "start": 82, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ISL1", "start": 25, "end": 29}, "tail": {"text": "Bladder Cancer", "start": 82, "end": 96}}]}}, "schema": []}
{"input": "We evaluated a role for the nuclear factor-kappa B (NF-kappaB) pathway in the regulation of seizure susceptibility and transcriptional activation during prolonged, continuous seizures (status epilepticus).", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 52, "end": 61}], "disease": [{"text": "status epilepticus", "start": 185, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Thus, despite the rarity of somatic mutations in Chk2 in sporadic breast carcinomas, our results nevertheless reveal that concomitant loss of function in Chk2 (via down-regulation of expression) and p53 (via mutation) occurs in a proportion of sporadic cases.", "output": {"entities": {"gene": [{"text": "p53", "start": 199, "end": 202}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Several TREX1 mutants linked to the autoimmune diseases Aicardi-Gouti & #232; res syndrome and systemic lupus erythematosus that exhibit full catalytic function were tested for altered ubiquitin modification and cellular localization.", "output": {"entities": {"gene": [{"text": "TREX1", "start": 8, "end": 13}], "disease": [{"text": "systemic lupus erythematosus", "start": 95, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TREX1", "start": 8, "end": 13}, "tail": {"text": "systemic lupus erythematosus", "start": 95, "end": 123}}]}}, "schema": []}
{"input": "We describe a patient with cholestasis, aminoaciduria, ichthyosis, partial callosal agenesis, and sensorineural deafness who, although homozygous for the novel VPS33B mutation 971delA/K324fs, predicted to abolish VPS33B function, did not exhibit arthrogryposis.", "output": {"entities": {"gene": [{"text": "VPS33B", "start": 160, "end": 166}], "disease": [{"text": "aminoaciduria", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Calnexin and PDI mRNAs were not significantly altered following TBI with or without secondary hypoxia.", "output": {"entities": {"gene": [{"text": "PDI", "start": 13, "end": 16}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, independent of blood pressure, periostin was strongly correlated with plasma creatinine, proteinuria and renal blood flow, hallmarks of hypertensive renal disease severity.", "output": {"entities": {"gene": [{"text": "periostin", "start": 44, "end": 53}], "disease": [{"text": "blood pressure", "start": 28, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.", "output": {"entities": {"gene": [{"text": "Otx2", "start": 42, "end": 46}], "disease": [{"text": "FASD", "start": 95, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Otx2", "start": 42, "end": 46}, "tail": {"text": "FASD", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "This is the first patient reported with uniparental disomy (UPD) resulting in ZS, in this case maternal isodisomy of chromosome 1 involving reduction to homoallelism of a frameshift mutation within PEX 10.", "output": {"entities": {"gene": [{"text": "PEX", "start": 198, "end": 201}], "disease": [{"text": "uniparental disomy", "start": 40, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "T gene", "start": 38, "end": 44}], "disease": [{"text": "familial hypertrophic cardiomyopathy", "start": 67, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Therefore, these findings not only reveal a novel pathophysiological function of TWEAK/Fn14 but also uncover a new player that may contribute to the development of cellular insulin resistance in hepatocytes.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 81, "end": 86}], "disease": [{"text": "insulin resistance", "start": 173, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Seven of ten cases of sporadic colon carcinoma, analyzed for comparative purposes, exhibited loss of a p53 allele.", "output": {"entities": {"gene": [{"text": "p53", "start": 103, "end": 106}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Tumor-specific hyperactive low-molecular-weight cyclin E isoforms detection and characterization in non-metastatic colorectal tumors.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 48, "end": 56}], "disease": [{"text": "weight", "start": 41, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Here, we examine KCNE2 in 98 patients with drug-induced LQTS, identifying three individuals with sporadic mutations and a patient with sulfamethoxazole-associated LQTS who carried a single-nucleotide polymorphism (SNP) found in approximately 1. 6% of the general population.", "output": {"entities": {"gene": [{"text": "KCNE2", "start": 17, "end": 22}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, silencing of homeobox B9 is more common in older age and is linked to extrathyroidal extension and advanced pathologic stage of papillary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "homeobox B9", "start": 26, "end": 37}], "disease": [{"text": "papillary thyroid carcinoma", "start": 141, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX10 mutation, and this patient was considered to have a clinical phenotype intermediate between type II and type IV of the syndrome.", "output": {"entities": {"gene": [{"text": "SOX10", "start": 111, "end": 116}], "disease": [{"text": "intestinal disorder", "start": 78, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Patients were categorised as Ankylosing Spondylitis (AS), Undifferentiated Spondyloarthropathy, SSA with inflammatory bowel disease, reactive arthritis, psoriatic arthritis and juvenile spondyloarthropathy.", "output": {"entities": {"gene": [{"text": "SSA", "start": 96, "end": 99}], "disease": [{"text": "juvenile spondyloarthropathy", "start": 177, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Studying patients from three unrelated pedigrees characterized by neutropenia, specific granule deficiency, myelodysplasia with excess of blast cells, and various developmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2.", "output": {"entities": {"gene": [{"text": "SMARCD2", "start": 251, "end": 258}], "disease": [{"text": "specific granule deficiency", "start": 79, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCD2", "start": 251, "end": 258}, "tail": {"text": "specific granule deficiency", "start": 79, "end": 106}}]}}, "schema": []}
{"input": "The mRNA level of Pin1 was obviously higher in blood samples from NSCLC patients than in those from benign lung disease patients and healthy subjects: it in NSCLC group was 1. 69-34. 78 times of that in negative control group.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 18, "end": 22}], "disease": [{"text": "lung disease", "start": 107, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We performed this study to evaluate the role of MCP-1 for the pathogenesis of PH in experimental CDH.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 48, "end": 53}], "disease": [{"text": "PH", "start": 78, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCP-1", "start": 48, "end": 53}, "tail": {"text": "PH", "start": 78, "end": 80}}]}}, "schema": []}
{"input": "Recent studies revealed that a common variant in the coding region of the IL13 gene, Arg110Gln, has been implicated in the development of asthma and atopy.", "output": {"entities": {"gene": [{"text": "IL13 gene", "start": 74, "end": 83}], "disease": [{"text": "atopy", "start": 149, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In benign soft-tissue tumors, 1 chemodectoma and 1 neurothekeoma showed low MRP expression; however, no case showed co-expression of MRP and MDR1.", "output": {"entities": {"gene": [{"text": "MDR1", "start": 141, "end": 145}], "disease": [{"text": "chemodectoma", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In the current study, the au-thors found that with malignancy of cervical cancer, the protein expression of TFAM was gradually increased, while the expression of miRNA-214 was gradually downregulated.", "output": {"entities": {"gene": [{"text": "TFAM", "start": 108, "end": 112}], "disease": [{"text": "cervical cancer", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Triple-negative patients were also younger than their JAK2-mutated counterparts (P = 0. 003) and displayed lower hemoglobin (P = 0. 003), lower leukocyte count (< 0. 0001) and lower thrombotic events (P = 0. 02).", "output": {"entities": {"gene": [{"text": "JAK2", "start": 54, "end": 58}], "disease": [{"text": "hemoglobin", "start": 113, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In this study, we collected 47 cases of nasal lymphoma and investigated the phenotypic difference between NK/T-cell lymphoma and PTL by examining the pattern of the developmentally differentially expressed molecules cdk6 (cyclin-dependent kinase 6), CD44, CD117, and by examining the rearrangement of the T-cell receptor gene (TcR-GR).", "output": {"entities": {"gene": [{"text": "PTL", "start": 129, "end": 132}], "disease": [{"text": "lymphoma", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC, MIM 248250) is a complex renal tubular disorder characterised by hypomagnesaemia, hypercalciuria, advanced nephrocalcinosis, hyposthenuria and progressive renal failure.", "output": {"entities": {"gene": [{"text": "MIM", "start": 74, "end": 77}], "disease": [{"text": "hypercalciuria", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In an effort to investigate further the molecular epidemiology of AIP, we have undertaken a systematic study of different exons of the PBGD gene from a large number of unrelated patients.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 135, "end": 139}], "disease": [{"text": "AIP", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 135, "end": 139}, "tail": {"text": "AIP", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "The same CHRM2 markers were genotyped in a sample of 137 EA subjects with affective disorders.", "output": {"entities": {"gene": [{"text": "CHRM2", "start": 9, "end": 14}], "disease": [{"text": "affective disorders", "start": 74, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRM2", "start": 9, "end": 14}, "tail": {"text": "affective disorders", "start": 74, "end": 93}}]}}, "schema": []}
{"input": "The medians of all measured factors and inflammatory parameters were not different from normative data, but many cases displayed values of C-reactive protein (CRP) (40%), fibrinogen (15%), fibrin D-dimer (15%), factor VIII (25%), von Willebrand factor (vWF) (15%), cholesterol and liver parameters that were greater than normative limits.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 211, "end": 222}], "disease": [{"text": "fibrinogen", "start": 171, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Multiplicative interaction analysis indicated that BLK had an interactive effect with TNFSF4 in Chinese patients with SLE (P = 6. 57 & #215; 10 (-4)).", "output": {"entities": {"gene": [{"text": "TNFSF4", "start": 86, "end": 92}], "disease": [{"text": "SLE", "start": 118, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNFSF4", "start": 86, "end": 92}, "tail": {"text": "SLE", "start": 118, "end": 121}}]}}, "schema": []}
{"input": "BACKGROUND/AIMS: The aim of the study is to search for associations between Antineutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) and polymorphisms in the genes of four key molecules possibly involved in different pathogenic pathways; complement C3, CTLA-4, Fcγ-RIIa and IL1-Ra.", "output": {"entities": {"gene": [{"text": "complement C3", "start": 250, "end": 263}], "disease": [{"text": "vasculitis", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The STRAD gene, encoding an LKB1 interacting protein that activates LKB1, which subsequently leads to polarisation of cells, is an interesting candidate for a second PJS gene and a potential tumour suppressor gene in sporadic carcinomas.", "output": {"entities": {"gene": [{"text": "STRAD", "start": 4, "end": 9}], "disease": [{"text": "carcinomas", "start": 226, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Axl/Gas6/NFκB signalling in schwannoma pathological proliferation, adhesion and survival.", "output": {"entities": {"gene": [{"text": "NFκB", "start": 9, "end": 13}], "disease": [{"text": "adhesion", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase.", "output": {"entities": {"gene": [{"text": "PAK3", "start": 119, "end": 123}], "disease": [{"text": "MRX30", "start": 55, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAK3", "start": 119, "end": 123}, "tail": {"text": "MRX30", "start": 55, "end": 60}}]}}, "schema": []}
{"input": "Colitis was associated with a decrease in silent mating type information regulation-1 (SIRT1) gene expression and an increase in p-inhibitory kappaB expression and nuclear transcription factor-kappaB (NF-kappaB) activation.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 87, "end": 92}], "disease": [{"text": "Colitis", "start": 0, "end": 7}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT1", "start": 87, "end": 92}, "tail": {"text": "Colitis", "start": 0, "end": 7}}]}}, "schema": []}
{"input": "Thus, NMDAR2A is commonly hypermethylated in primary human CRC and possesses tumor-suppressive activity.", "output": {"entities": {"gene": [{"text": "NMDAR2A", "start": 6, "end": 13}], "disease": [{"text": "CRC", "start": 59, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NMDAR2A", "start": 6, "end": 13}, "tail": {"text": "CRC", "start": 59, "end": 62}}]}}, "schema": []}
{"input": "The data show that Cx43 and Cx26 are differentially regulated during bladder outlet obstruction and contribute to the response of the bladder wall to increased voiding pressure, possibly to control its elasticity.", "output": {"entities": {"gene": [{"text": "Cx26", "start": 28, "end": 32}], "disease": [{"text": "bladder outlet obstruction", "start": 69, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Moreover, both liver-specific SIK2 knockdown and p300 overexpression resulted in hepatic steatosis, insulin resistance, and inflammation, phenotypes reversed by SIK2/p300 co-overexpression.", "output": {"entities": {"gene": [{"text": "SIK2", "start": 30, "end": 34}], "disease": [{"text": "inflammation", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "To investigate the possible involvement of TRIM37 alterations in the pathogenesis of sporadic fibrothecomas, we analyzed the TRIM37 cDNA for mutations and alternatively spliced transcripts and TRIM37 expression in fibrothecomas of women without Mulibrey nanism.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 43, "end": 49}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "These have mainly centered on possible deficiencies in monoamines, neurotrophins, the neuroendocrine system, c-AMP, cation channels as well as neuroimmune interactions and epigenetics, however the precise mechanism or mechanisms related to depression have yet to be elucidated.", "output": {"entities": {"gene": [{"text": "AMP", "start": 111, "end": 114}], "disease": [{"text": "depression", "start": 240, "end": 250}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 111, "end": 114}, "tail": {"text": "depression", "start": 240, "end": 250}}]}}, "schema": []}
{"input": "We found associations with recurrent wheeze for SNPs in IL19, IL20, MUC5AC, TNFRSF1B, C3, CTLA4, CXCL9, IL4R, and IL7 genes.", "output": {"entities": {"gene": [{"text": "CXCL9", "start": 97, "end": 102}], "disease": [{"text": "wheeze", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The percentage of patients with altered protein expression of HOXA-10 in stromal cells were significantly higher in patients with only superficial peritoneal endometriosis (100%, 20/20, P < 0. 05) compared with the other infertile groups (deep infiltrating endometriosis: 72. 7%, 16/22; ovarian endometriosis: 70. 0%, 14/20; uterine myoma: 68. 8%, 11/16; unexplained infertility: 55. 6%, 5/9).", "output": {"entities": {"gene": [{"text": "HOXA", "start": 62, "end": 66}], "disease": [{"text": "uterine myoma", "start": 325, "end": 338}]}, "relations": {}}, "schema": []}
{"input": "This gene family includes the previously studied PMP22, which is involved in the Charcot-Marie-Tooth neuropathy, and three novel genes: TMP, XMP, and YMP (HGMW-approved symbols EMP1, EMP2 and EMP3, respectively).", "output": {"entities": {"gene": [{"text": "EMP3", "start": 192, "end": 196}], "disease": [{"text": "neuropathy", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls.", "output": {"entities": {"gene": [{"text": "FGFR4 gene", "start": 147, "end": 157}], "disease": [{"text": "basal cell carcinoma", "start": 334, "end": 354}]}, "relations": {}}, "schema": []}
{"input": "To elucidate whether Ca (2 +) entry via Trpm2 is required to maintain cellular bioenergetics, we injected adenovirus expressing green fluorescent protein (GFP), wild-type (WT) Trpm2, and loss-of-function (E960D) Trpm2 mutant into left ventricles of global Trpm2 knockout (gKO) or WT hearts.", "output": {"entities": {"gene": [{"text": "Trpm2", "start": 40, "end": 45}], "disease": [{"text": "adenovirus", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the BRCA1 and BRCA2 genes in sporadic meningiomas.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 26, "end": 37}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis of the mechanistic target of rapamycin and hypoxia signalling pathways in basal cell carcinoma and trichoepithelioma.", "output": {"entities": {"gene": [{"text": "mechanistic target of rapamycin", "start": 36, "end": 67}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We found reduced TLR4 gene expression in the nasal epithelium of smokers compared with non-smoking controls, while TLR2 expression was unchanged.", "output": {"entities": {"gene": [{"text": "TLR4 gene", "start": 17, "end": 26}], "disease": [{"text": "smoking", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Apelin mRNA is significantly higher expressed in adipose tissue of patients with type 2 diabetes and correlates with circulating apelin, BMI, body fat, C-reactive protein, and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 152, "end": 170}], "disease": [{"text": "insulin sensitivity", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "In contrast to our hypothesis, IL-4-independent pathways exacerbate methacholine-induced AHR and promote airway obstruction during the pathogenesis of mycoplasma respiratory disease.", "output": {"entities": {"gene": [{"text": "AHR", "start": 89, "end": 92}], "disease": [{"text": "mycoplasma", "start": 151, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Translocation (X; 10) (p10; p10): A rare but nonrandom chromosomal abnormality in acute leukemia of myeloid differentiation.", "output": {"entities": {"gene": [{"text": "p10", "start": 23, "end": 26}], "disease": [{"text": "acute leukemia", "start": 82, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "SOD2 genotype alone was not associated with disease aggressiveness, whereas higher versus lower selenium levels were associated with a slightly increased likelihood of presenting with aggressive disease (RR = 1. 35; 95% CI, 0. 99 to 1. 84).", "output": {"entities": {"gene": [{"text": "SOD2", "start": 0, "end": 4}], "disease": [{"text": "aggressiveness", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "In myelin protein zero-deficient mice (P0-/-), we found alterations similar to those found in Pmp22-/-mice, whereas P0 +/-mice developed mildly increased sciatic nerve F-wave latencies only late in life, which indicates only mild dysmyelination.", "output": {"entities": {"gene": [{"text": "Pmp22", "start": 94, "end": 99}], "disease": [{"text": "mild", "start": 137, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We examined the association of LTL with coronary artery calcification (CAC), which reflects the cumulative burden of coronary atherosclerosis, in an urban Arab sample of Palestinians, a population at high risk of CHD.", "output": {"entities": {"gene": [{"text": "CAC", "start": 71, "end": 74}], "disease": [{"text": "coronary artery calcification", "start": 40, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Therefore, the possible association of the hOGG1 Ser326Cys gene variant with insulin sensitivity was investigated in 279 normal glucose-tolerant subjects without history of cancer.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 43, "end": 48}], "disease": [{"text": "insulin sensitivity", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that CRE, Mef2, and GR signaling form a transcription regulating network, which underlies differential amphetamine sensitivity, and therefore, may play an important role in susceptibility to psychosis.", "output": {"entities": {"gene": [{"text": "Mef2", "start": 25, "end": 29}], "disease": [{"text": "psychosis", "start": 206, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mef2", "start": 25, "end": 29}, "tail": {"text": "psychosis", "start": 206, "end": 215}}]}}, "schema": []}
{"input": "The immunohistochemical findings for VEGF protein, p53 protein, and MIB-1 did not differ significantly between the sporadic and VHL disease-associated hemangioblastomas.", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 68, "end": 73}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Importantly, 16 of 18 unique CHEK2 mutations identified in both sporadic and familial cases were not detected among 423 unaffected men, suggesting a pathological effect of CHEK2 mutations in prostate cancer development.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 29, "end": 34}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Notably, this HTRA2 transgene rescues htra2 (mnd2) mice from early onset neurodegeneration, and other phenotypic abnormalities and prevents their early death, indicating that HTRA2 activity in neuronal mitochondria is important for neuronal cell survival.", "output": {"entities": {"gene": [{"text": "HTRA2", "start": 14, "end": 19}], "disease": [{"text": "neurodegeneration", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To investigate the possibility of a human genetic component conferring resistance or susceptibility to cold sores (i. e., a HSL susceptibility gene), we conducted a genetic linkage analysis that included serotyping and phenotyping 421 individuals from 39 families enrolled in the Utah Genetic Reference Project.", "output": {"entities": {"gene": [{"text": "HSL", "start": 124, "end": 127}], "disease": [{"text": "cold sores", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "This study analysed the TGFBI gene in Vietnamese people with LCD.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 24, "end": 29}], "disease": [{"text": "LCD", "start": 61, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBI", "start": 24, "end": 29}, "tail": {"text": "LCD", "start": 61, "end": 64}}]}}, "schema": []}
{"input": "The tumor suppressor gene, p53, was studied because of previous indications that this gene is inactivated in the sporadic (nonfamilial) forms of most cancers that are associated with LFS.", "output": {"entities": {"gene": [{"text": "gene, p53", "start": 21, "end": 30}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Pfeiffer' s syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor receptor-2", "start": 61, "end": 96}], "disease": [{"text": "Pfeiffer' s syndrome", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibroblast growth factor receptor-2", "start": 61, "end": 96}, "tail": {"text": "Pfeiffer' s syndrome", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "Here we show that siRNA-mediated silencing of p53 is sufficient to completely abrogate hypersensitivity not only to Cisplatin but also to non-genotoxic inducers of p53 such as the Mdm2 antagonist Nutlin-3 and the proteasome inhibitor Bortezomib.", "output": {"entities": {"gene": [{"text": "p53", "start": 46, "end": 49}], "disease": [{"text": "hypersensitivity", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Animals subcutaneously injected with L-rSOD in the tumor area showed a complete disruption of established mammary carcinomas, as monitored by nuclear magnetic resonance (NMR) scanning.", "output": {"entities": {"gene": [{"text": "NMR", "start": 170, "end": 173}], "disease": [{"text": "carcinomas", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the basis for the different life expectancies of patients in different kindreds of sod1-linked FALS may result from an as yet unidentified property of these mutant enzymes.", "output": {"entities": {"gene": [{"text": "sod1", "start": 100, "end": 104}], "disease": [{"text": "FALS", "start": 112, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "sod1", "start": 100, "end": 104}, "tail": {"text": "FALS", "start": 112, "end": 116}}]}}, "schema": []}
{"input": "We studied associations of genetic variants of folate metabolizing enzymes (MTHFR, MTR, and MTRR), DNA methyltransferase DNMT3b, and histone methyltransferases (EHMT1, EHMT2, and PRDM2), with colorectal cancers, with or without the CpG island methylator phenotype (CIMP), MLH1 hypermethylation, or microsatellite instability.", "output": {"entities": {"gene": [{"text": "MTR", "start": 83, "end": 86}], "disease": [{"text": "microsatellite instability", "start": 298, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "This translocation joins the Ewing' s sarcoma gene (EWS) located on chromosome 22 to an ets family gene; either friend leukemia insertion (FLI) 1 located on chromosome 11, t (11; 22), or ets-related gene (ERG) located on chromosome 21, t (21; 22).", "output": {"entities": {"gene": [{"text": "EWS", "start": 52, "end": 55}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Bayesian correction for multiple comparisons suggests that chance is unlikely to explain our findings (although epigenetic mechanisms may be in effect), which support our hypotheses, suggesting that IL10 rs1800871 is a susceptibility marker for oropharyngeal and lung cancers, and that TNF rs1799964 is associated with smoking-related cancers among never smokers.", "output": {"entities": {"gene": [{"text": "TNF", "start": 286, "end": 289}], "disease": [{"text": "smoking", "start": 319, "end": 326}]}, "relations": {}}, "schema": []}
{"input": "Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A gene.", "output": {"entities": {"gene": [{"text": "PRKAR1A gene", "start": 245, "end": 257}], "disease": [{"text": "benign tumors", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, molecular signatures were clearly different in noncancerous liver tissue as compared with the early and progressed components of nodule-in-nodule-type HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 166, "end": 169}], "disease": [{"text": "nodule", "start": 144, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of the CETP TaqIB polymorphism with CHD, and sudden death in particular, in a prospective cohort of type 2 diabetic patients.", "output": {"entities": {"gene": [{"text": "CETP", "start": 39, "end": 43}], "disease": [{"text": "sudden death", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Levels and temporal patterns of expression of many circadian genes and SIRT1 significantly changed upon serum starvation in vitro, with differences among four different PC cell lines examined (BXPC3, CFPAC, MIA-PaCa-2 and PANC-1).", "output": {"entities": {"gene": [{"text": "MIA", "start": 207, "end": 210}], "disease": [{"text": "starvation", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "A wealth of data indicates that neuropeptides, e. g., NPY, CRH, somatostatin, tachykinins and CGRP play a role in affective disorders and alcohol use/abuse.", "output": {"entities": {"gene": [{"text": "NPY", "start": 54, "end": 57}], "disease": [{"text": "affective disorders", "start": 114, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY", "start": 54, "end": 57}, "tail": {"text": "affective disorders", "start": 114, "end": 133}}]}}, "schema": []}
{"input": "The first genome-wide association study on birth weight was recently published and the most significant associated birth weight lowering variant was the rs900400 C-allele located near LEKR1 and CCNL1.", "output": {"entities": {"gene": [{"text": "LEKR1", "start": 184, "end": 189}], "disease": [{"text": "birth weight", "start": 43, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Our previous study showed that RhoE is a tumor suppressor gene and its expression is down-regulated in gastric cancer.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 31, "end": 35}], "disease": [{"text": "gastric cancer", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In the present study, Restriction Fragment Length Polymorphism (RFLP) of three genetic markers viz., Internal Transcribed Spacer (ITS), ITS1 and heat shock protein 70 (hsp70) have been employed for typing the clinical isolates [n = 15] of KA and post Kala-azar Dermal Leishmaniosis (PKDL) collected from India and Bangladesh in the period of 2006-2010.", "output": {"entities": {"gene": [{"text": "hsp70", "start": 168, "end": 173}], "disease": [{"text": "shock", "start": 150, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The known TSA hit rates (1. 9% and 0. 8%) are enriched by 29-fold and 35-fold over those of mutation analysis.", "output": {"entities": {"gene": [{"text": "TSA", "start": 10, "end": 13}], "disease": [{"text": "hit", "start": 14, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Multivariate adjusted linear trend regression analysis of metabolic, anthropometric and blood pressure variables in FABP1 T94A genotypes were performed in both genders.", "output": {"entities": {"gene": [{"text": "FABP1", "start": 116, "end": 121}], "disease": [{"text": "blood pressure", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "S1P2 receptor mediated fibronectin expression through the activation of S1P-S1P2-MAPK (ERK1/2 and p38MAPK) axis in mesangial cells under high glucose condition, suggesting that it might be a potential therapeutic target for diabetic nephropathy treatment.", "output": {"entities": {"gene": [{"text": "S1P", "start": 0, "end": 3}], "disease": [{"text": "diabetic nephropathy", "start": 224, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "FLNC and KCNE2 co-localised within the cell, however, a physical interaction was only observed under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "FLNC", "start": 0, "end": 4}], "disease": [{"text": "hypoxic", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We identified mutations of the CD40 ligand gene in 13 unrelated Japanese XHIM patients.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 31, "end": 42}], "disease": [{"text": "XHIM", "start": 73, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CD40 ligand", "start": 31, "end": 42}, "tail": {"text": "XHIM", "start": 73, "end": 77}}]}}, "schema": []}
{"input": "Interferon gamma-induced human guanylate binding protein 1 inhibits mammary tumor growth in mice.", "output": {"entities": {"gene": [{"text": "guanylate binding protein 1", "start": 31, "end": 58}], "disease": [{"text": "mammary tumor", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "ALCAM' s role in adhesion of tumor cells to the vascular wall was studied in isolated perfused lungs.", "output": {"entities": {"gene": [{"text": "ALCAM' s", "start": 0, "end": 8}], "disease": [{"text": "adhesion", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Real-time quantitative PCR showed that MCM5, MCM7, and RAD9 mRNA expression were significantly higher in malignant than in benign thyroid neoplasms (< or = 0. 0012).", "output": {"entities": {"gene": [{"text": "MCM5", "start": 39, "end": 43}], "disease": [{"text": "thyroid neoplasms", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "With the function of C4. 4A still unknown, we explored the impact of hypoxia on C4. 4A expression and functional activity.", "output": {"entities": {"gene": [{"text": "C4. 4A", "start": 80, "end": 86}], "disease": [{"text": "hypoxia", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "An untranslated insertion variant in the uncoupling protein 2 gene is not related to body mass index and changes in body weight during a 26-year follow-up in Danish Caucasian men.", "output": {"entities": {"gene": [{"text": "uncoupling protein 2", "start": 41, "end": 61}], "disease": [{"text": "body weight", "start": 116, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In logistic regression analysis that was adjusted for body mass index, age, race, smoking, blood pressure, serum testosterone and estradiol levels, and gestational age at serum collection, sex hormone binding globulin levels remained independently associated with subsequent gestational diabetes mellitus.", "output": {"entities": {"gene": [{"text": "sex hormone binding globulin", "start": 189, "end": 217}], "disease": [{"text": "body mass index", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).", "output": {"entities": {"gene": [{"text": "RIM1", "start": 55, "end": 59}], "disease": [{"text": "cone-rod dystrophy", "start": 101, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIM1", "start": 55, "end": 59}, "tail": {"text": "cone-rod dystrophy", "start": 101, "end": 119}}]}}, "schema": []}
{"input": "Furthermore, the inflammation inhibitor minocycline blocked Tim-3 and iNOS expression induced by stroke.", "output": {"entities": {"gene": [{"text": "Tim-3", "start": 60, "end": 65}], "disease": [{"text": "inflammation", "start": 17, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Germline mutation of the tumour suppressor PTEN in Proteus syndrome.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 43, "end": 47}], "disease": [{"text": "Proteus syndrome", "start": 51, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 43, "end": 47}, "tail": {"text": "Proteus syndrome", "start": 51, "end": 67}}]}}, "schema": []}
{"input": "These data suggest that upregulated expression of IL-2, IL-4, and IFN-gamma may be part of the inflammatory cascade of human acute GVHD, while IL-1 alpha, TNF-alpha, and IL-6 are not discriminatory for the inflammation observed at the time of initial GVHD diagnosis.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 56, "end": 60}], "disease": [{"text": "inflammation", "start": 206, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Neurofibromin deficiency deregulates Ras/Raf/MEK/ERK and Ras/PI3K/AKT/PKB/mTOR signaling networks and intersected pathways including the cAMP-dependent protein kinase A (PKA) and the Rho-cofillin which acts on actin cytoskeleton reorganization, cell motility and adhesion.", "output": {"entities": {"gene": [{"text": "PKB", "start": 70, "end": 73}], "disease": [{"text": "adhesion", "start": 263, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate how hypoxic and oxidative stress induced CL-P1 expression and compared their effects with the expression of lectin-like oxidized low-density lipoprotein receptor 1 (LOX-1), an endothelial scavenger receptor expressed by oxidative stress.", "output": {"entities": {"gene": [{"text": "LOX-1", "start": 180, "end": 185}], "disease": [{"text": "hypoxic", "start": 19, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma.", "output": {"entities": {"gene": [{"text": "MIM", "start": 74, "end": 77}], "disease": [{"text": "mesothelioma", "start": 173, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that urea accumulation in the hippocampus induced by UT-B deletion can cause depression-like behavior, which possibly attribute to disturbance in NOS/NO system.", "output": {"entities": {"gene": [{"text": "NOS", "start": 168, "end": 171}], "disease": [{"text": "depression", "start": 99, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 168, "end": 171}, "tail": {"text": "depression", "start": 99, "end": 109}}]}}, "schema": []}
{"input": "In various sporadic thyroid tumor types of adults structural genetic aberrations have been found involving mutations of RAS (codon 12, 13, 61), p53 (exons 5 to 8), Gsalpha (codon 201 and 227), and, at a low prevalence, the receptor tyrosine kinases RET or NTRK1.", "output": {"entities": {"gene": [{"text": "p53", "start": 144, "end": 147}], "disease": [{"text": "sporadic", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "In this study, we demonstrated that suppression of IFITM1 expression significantly inhibited proliferation of glioma cells in a time-dependent manner.", "output": {"entities": {"gene": [{"text": "IFITM1", "start": 51, "end": 57}], "disease": [{"text": "glioma", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Identification of a mutant-like conformation of p53 in fibroblasts from sporadic Alzheimer' s disease patients.", "output": {"entities": {"gene": [{"text": "p53", "start": 48, "end": 51}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Expression of TNF-alpha-induced intercellular adhesion molecule-1 and vascular cell adhesion molecule-1 was inhibited by K (1-5) treatment, possibly via downregulation of translocation of nuclear factor-kappaB and expression of reactive oxygen species.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 14, "end": 23}], "disease": [{"text": "translocation", "start": 171, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the miRNA cluster 182/96/183 is specific in SDHB-mutated tumours and induces malignant traits, whereas silencing of the imprinted DLK1-MEG3 miRNA cluster appears as a potential driver in a subgroup of sporadic tumours.", "output": {"entities": {"gene": [{"text": "DLK1", "start": 148, "end": 152}], "disease": [{"text": "sporadic", "start": 219, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "In a case of acute myeloid leukemia we report molecular cytogenetic findings of a t (3; 11) (q12; p15), characterized as a new NUP98 translocation rearranging with LOC348801 at chromosome 3.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 127, "end": 132}], "disease": [{"text": "translocation", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Antibodies against beta-adrenergic receptors in patients with myasthenia gravis binds to both beta1-and beta2-adrenergic receptors and might be implicated in the few patients with myasthenia gravis who have heart disease.", "output": {"entities": {"gene": [{"text": "beta2", "start": 104, "end": 109}], "disease": [{"text": "myasthenia gravis", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "FoxO4 activates Arg1 transcription in endothelial cells in response to MI, leading to downregulation of nitric oxide and upregulation of neutrophil infiltration to the infarct area.", "output": {"entities": {"gene": [{"text": "Arg1", "start": 16, "end": 20}], "disease": [{"text": "infarct", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "We have shown previously that rats can be cured from induced peritoneal colon carcinomatosis by injections of apoptotic bodies derived from tumor cells and interleukin 2.", "output": {"entities": {"gene": [{"text": "interleukin 2", "start": 156, "end": 169}], "disease": [{"text": "carcinomatosis", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Heterozygosity for a G--& gt; A mutation converting Val384 (GTG) to Met (ATG) associated with plasmin inhibitor (alpha2-antiplasmin) deficiency was identified in three family members with bleeding tendency.", "output": {"entities": {"gene": [{"text": "plasmin inhibitor", "start": 94, "end": 111}], "disease": [{"text": "antiplasmin) deficiency", "start": 120, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "plasmin inhibitor", "start": 94, "end": 111}, "tail": {"text": "antiplasmin) deficiency", "start": 120, "end": 143}}]}}, "schema": []}
{"input": "Fourteen homozygous long (PER3 (5/5)) and 15 homozygous short (PER3 (4/4)) allele carriers underwent both a 40-h sleep deprivation and multiple nap protocol under controlled laboratory conditions.", "output": {"entities": {"gene": [{"text": "PER3", "start": 26, "end": 30}], "disease": [{"text": "sleep deprivation", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Accumulation of cyclin E at the G1-S boundary is achieved by periodic transcription coupled with regulated proteolysis linked to autophosphorylation of cyclin E. The proper timing and amplitude of cyclin E expression seem to be important, because elevated levels of cyclin E have been associated with a variety of malignancies and constitutive expression of cyclin E leads to genomic instability.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 16, "end": 24}], "disease": [{"text": "genomic instability", "start": 376, "end": 395}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our findings define HS as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6.", "output": {"entities": {"gene": [{"text": "PEX1", "start": 94, "end": 98}], "disease": [{"text": "HS", "start": 35, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEX1", "start": 94, "end": 98}, "tail": {"text": "HS", "start": 35, "end": 37}}]}}, "schema": []}
{"input": "Lysophosphatidic acid (LPA) is present at elevated concentrations in the ascites and plasma of ovarian cancer patients.", "output": {"entities": {"gene": [{"text": "LPA", "start": 23, "end": 26}], "disease": [{"text": "ascites", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "To elucidate a possible role of BRCA2 and RB1 in sporadic breast tumorigenesis, allelic imbalance (AI) at 13q loci was examined in 78 primary sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 32, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to investigate the potential relation of megalin receptor injury with nuclear factor-kappa B (NF-& #954; B) upregulation in acute kidney injury rat model.", "output": {"entities": {"gene": [{"text": "megalin", "start": 73, "end": 80}], "disease": [{"text": "acute kidney injury", "start": 156, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "megalin", "start": 73, "end": 80}, "tail": {"text": "acute kidney injury", "start": 156, "end": 175}}]}}, "schema": []}
{"input": "HDAC1 and HDAC5 protein levels were elevated in lungs from human idiopathic pulmonary arterial hypertension and in lungs and right ventricles from rats exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "HDAC5", "start": 10, "end": 15}], "disease": [{"text": "idiopathic pulmonary arterial hypertension", "start": 65, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC5", "start": 10, "end": 15}, "tail": {"text": "idiopathic pulmonary arterial hypertension", "start": 65, "end": 107}}]}}, "schema": []}
{"input": "We analysed PAX5/BSAP expression by Northern and Western blotting in a panel of haematological tumour cell lines with other chromosome abnormalities in comparison with that of KIS-1.", "output": {"entities": {"gene": [{"text": "KIS", "start": 176, "end": 179}], "disease": [{"text": "chromosome abnormalities", "start": 124, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These findings confirm previous studies that aneusomy of 7 is associated with prostate cancer progression, and there may be a tumor suppressor gene (TSG) at 7q31. 1 which is associated with tumor progression.", "output": {"entities": {"gene": [{"text": "TSG", "start": 149, "end": 152}], "disease": [{"text": "prostate cancer", "start": 78, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We searched for PKP2 variants in the genomic DNA of 200 patients with a BrS diagnosis, no signs of arrhythmogenic cardiomyopathy, and no mutations in BrS-related genes SCN5A, CACNa1c, GPD1L, and MOG1.", "output": {"entities": {"gene": [{"text": "MOG1", "start": 195, "end": 199}], "disease": [{"text": "cardiomyopathy", "start": 114, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "To determine whether genetic variation in these genes plays a role in sporadic PD, we performed a genetic association study in a screening sample of 340 PD patients and 680 controls and a large replication sample of 669 PD patients and 669 controls using 54 single nucleotide polymorphisms in and around the Engrailed 1/2, PITX3, LMX1B and OTX2 genes.", "output": {"entities": {"gene": [{"text": "PITX3", "start": 323, "end": 328}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Consistent with this, there was a 200-fold increase in the number of CD14 + CD16bright monocytes in the blood during viremia and even several months after virus clearance.", "output": {"entities": {"gene": [{"text": "CD14", "start": 69, "end": 73}], "disease": [{"text": "viremia", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Elp3 genetic ablation strongly impaired invasion and metastasis formation in the PyMT model of invasive breast cancer.", "output": {"entities": {"gene": [{"text": "Elp3", "start": 0, "end": 4}], "disease": [{"text": "breast cancer", "start": 104, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Elp3", "start": 0, "end": 4}, "tail": {"text": "breast cancer", "start": 104, "end": 117}}]}}, "schema": []}
{"input": "The correlation of cytology, TERC amplification, human papillomavirus typing, and histological diagnosis showed that infection with high-risk human papillomavirus was detected in 64% of the LBC samples with normal histopathology, in 65% of the cervical intraepithelial neoplasia (CIN) 1, 95% of the CIN2, 96% of the CIN3 lesions, and all carcinomas.", "output": {"entities": {"gene": [{"text": "LBC", "start": 190, "end": 193}], "disease": [{"text": "carcinomas", "start": 338, "end": 348}]}, "relations": {}}, "schema": []}
{"input": "The role of promoter methylation in the inactivation of E-cadherin (E-cad) in salivary gland adenoid cystic carcinoma (ACC) is unknown.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 56, "end": 66}], "disease": [{"text": "salivary gland adenoid cystic carcinoma", "start": 78, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene.", "output": {"entities": {"gene": [{"text": "Mucopolysaccharidosis type IIIA", "start": 0, "end": 31}], "disease": [{"text": "Sanfilippo A", "start": 47, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Mucopolysaccharidosis type IIIA", "start": 0, "end": 31}, "tail": {"text": "Sanfilippo A", "start": 47, "end": 59}}]}}, "schema": []}
{"input": "We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion.", "output": {"entities": {"gene": [{"text": "SCAD", "start": 169, "end": 173}], "disease": [{"text": "SCAD deficiency", "start": 200, "end": 215}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCAD", "start": 169, "end": 173}, "tail": {"text": "SCAD deficiency", "start": 200, "end": 215}}]}}, "schema": []}
{"input": "An adenovirus carrying antisense ODC (rAd-ODC/Ex3as) was infected to prostate cancer cells PC-3 and LNCap.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 91, "end": 95}], "disease": [{"text": "adenovirus", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Arg TP53 homozygotes were found to be significantly underrepresented among adults with post-Chernobyl PTC, but not in children and adolescents when compared with sporadic PTC cases and the general population.", "output": {"entities": {"gene": [{"text": "TP53", "start": 4, "end": 8}], "disease": [{"text": "sporadic", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Complementary fluorescence in situ hybridization analysis showed that the translocation breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 and FSHMD1A at 4q35.", "output": {"entities": {"gene": [{"text": "EWSR1 gene", "start": 120, "end": 130}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that NPM may play an important role in the progression of tumorigenesis and that NPM may serve as a potential marker for HCC.", "output": {"entities": {"gene": [{"text": "NPM", "start": 25, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 78, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Uncoupling protein 2 (UCP2) plays an important role in body weight and energy metabolism and may be related to the control of food consumption.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 22, "end": 26}], "disease": [{"text": "body weight", "start": 55, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Although CTNNB1 mutations were not observed, second somatic APC mutations were found in 4 of the 8 tumors: a uterine adenocarcinoma, a hepatocellular adenoma, an adrenocortical adenoma, and an epidermal cyst.", "output": {"entities": {"gene": [{"text": "CTNNB1", "start": 9, "end": 15}], "disease": [{"text": "epidermal cyst", "start": 193, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "CEBPA mutation status was not demonstrated to be of prognostic importance in this patient group, although this may reflect the selection and size of the AML population studied.", "output": {"entities": {"gene": [{"text": "CEBPA", "start": 0, "end": 5}], "disease": [{"text": "AML", "start": 153, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CEBPA", "start": 0, "end": 5}, "tail": {"text": "AML", "start": 153, "end": 156}}]}}, "schema": []}
{"input": "We assessed the relationship between Nt-pro-BNP and (1) the extent of ischemia on stress myocardial perfusion imaging (MPI), and (2) changes between the basal and postexercise ejection fraction (EF), in stable patients with a normal EF.", "output": {"entities": {"gene": [{"text": "MPI", "start": 119, "end": 122}], "disease": [{"text": "ischemia", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.", "output": {"entities": {"gene": [{"text": "CACNA2D4", "start": 20, "end": 28}], "disease": [{"text": "bipolar disorder", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "PCR amplification and sequence of the translocation junction fragments indicated that the breakpoint was localized within exon 7 of EWS.", "output": {"entities": {"gene": [{"text": "EWS", "start": 132, "end": 135}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "As in all other reported cases of keratin 9 mutation in EPPK, this mutation lies within the highly conserved coil 1A of the rod domain, which is considered to play a role in the correct alignment of the coiled-coil molecules.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 34, "end": 43}], "disease": [{"text": "EPPK", "start": 56, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 34, "end": 43}, "tail": {"text": "EPPK", "start": 56, "end": 60}}]}}, "schema": []}
{"input": "No significant association between CLC risk and TT genotype was observed in patients with distal tumors (odds ratio, 1. 01; 95% confidence interval, 0. 48-2. 14).", "output": {"entities": {"gene": [{"text": "CLC", "start": 35, "end": 38}], "disease": [{"text": "tumors", "start": 97, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "To explore the effects of hypoxia-induced deterioration of AD-like pathogenesis and investigate the correlation between hypoxia-induced NRF2 signal alterations and CD36 expression, we examined the NRF2 signaling, CD36, and oxidative stress events in hypoxia-treated APPswe/PSEN1dE9 (APP/PS1) mice brain.", "output": {"entities": {"gene": [{"text": "APP", "start": 266, "end": 269}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "There was a significant association between increased IL-4 production by CD4 and CD8 T lymphocytes and hypersensitivity reactions to abacavir.", "output": {"entities": {"gene": [{"text": "CD4", "start": 73, "end": 76}], "disease": [{"text": "hypersensitivity reactions", "start": 103, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356.", "output": {"entities": {"gene": [{"text": "CUX2", "start": 111, "end": 115}], "disease": [{"text": "bipolar affective disorder", "start": 34, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CUX2", "start": 111, "end": 115}, "tail": {"text": "bipolar affective disorder", "start": 34, "end": 60}}]}}, "schema": []}
{"input": "HRG stimulation also caused a rapid redistribution of calnexin from vesicle-like structures in the cell cytoplasm to the perinuclear area and to the cell membrane.", "output": {"entities": {"gene": [{"text": "HRG", "start": 0, "end": 3}], "disease": [{"text": "vesicle", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.", "output": {"entities": {"gene": [{"text": "NTRK3", "start": 21, "end": 26}], "disease": [{"text": "Hirschsprung disease", "start": 57, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTRK3", "start": 21, "end": 26}, "tail": {"text": "Hirschsprung disease", "start": 57, "end": 77}}]}}, "schema": []}
{"input": "The degree of sodium-depletion, the aetiology and severity of hypertension and heart rate did not contribute independently from plasma renin activity to the development of hypotension.", "output": {"entities": {"gene": [{"text": "renin", "start": 135, "end": 140}], "disease": [{"text": "hypotension", "start": 172, "end": 183}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "renin", "start": 135, "end": 140}, "tail": {"text": "hypotension", "start": 172, "end": 183}}]}}, "schema": []}
{"input": "SSTR3 and SSTR4 mRNAs were detected in 1 and 2 cases of somatotroph adenoma, respectively.", "output": {"entities": {"gene": [{"text": "SSTR4", "start": 10, "end": 15}], "disease": [{"text": "somatotroph adenoma", "start": 56, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "DNA analyses of the family members revealed that conventional assays of erythrocyte PBGD activity identified correctly only 72% of the carriers for the AIP mutation.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 84, "end": 88}], "disease": [{"text": "AIP", "start": 152, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 84, "end": 88}, "tail": {"text": "AIP", "start": 152, "end": 155}}]}}, "schema": []}
{"input": "These data suggest new routes to develop FAAH-based analgesia by targeting of FAAH-OUT, which could significantly improve the treatment of postoperative pain and potentially chronic pain and anxiety disorders.", "output": {"entities": {"gene": [{"text": "FAAH-OUT", "start": 78, "end": 86}], "disease": [{"text": "analgesia", "start": 52, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAAH-OUT", "start": 78, "end": 86}, "tail": {"text": "analgesia", "start": 52, "end": 61}}]}}, "schema": []}
{"input": "Thus, PTX3, an effector molecule belonging to the humoral arm of innate immunity, acts as an extrinsic oncosuppressor gene in mouse and man by regulating Complement-dependent, macrophage-sustained, tumor-promoting inflammation.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 6, "end": 10}], "disease": [{"text": "inflammation", "start": 214, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Intracerebroventricular (10 nmol/3 microL) and intrahippocampal (20-50 microm) NPY administration increased hippocampal dopamine and attenuated pilocarpine-induced seizures.", "output": {"entities": {"gene": [{"text": "NPY", "start": 79, "end": 82}], "disease": [{"text": "seizures", "start": 164, "end": 172}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 79, "end": 82}, "tail": {"text": "seizures", "start": 164, "end": 172}}]}}, "schema": []}
{"input": "A significant correalation existed between expressions of L-selectin mRNA and surface L-selectin in acute leukemia patients (gamma = 0. 782, P < 0. 05).", "output": {"entities": {"gene": [{"text": "L-selectin", "start": 58, "end": 68}], "disease": [{"text": "acute leukemia", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The final study with 253 familial patient cases (74 BRCA1, 71 BRCA2, 108 non-BRCA1/2), and 288 sporadic patient cases, has allowed us to confirm our preliminary results.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 62, "end": 67}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Autosomal recessive immunodeficiency without EDA is caused by mutations in the gene encoding IRAK-4, a kinase acting upstream from the IKK complex in the TIR signaling pathway.", "output": {"entities": {"gene": [{"text": "IRAK", "start": 93, "end": 97}], "disease": [{"text": "immunodeficiency", "start": 20, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The FEV (1) decline was related to the following clinical characteristics: CFTR genotype, age, gender, weight, height, age at diagnosis, baseline FEV (1), pancreatic function, presence of airway infection, pancreatic insufficiency and diabetes, number of exacerbations/year and intravenous (i. v.)", "output": {"entities": {"gene": [{"text": "CFTR", "start": 75, "end": 79}], "disease": [{"text": "height", "start": 111, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Macrophage scavenger receptors, such as CD36 and class A scavenger receptor (SR-A), have previously been thought to play a central role in foam cell formation and atherogenesis by mediating the uptake of oxidized LDL.", "output": {"entities": {"gene": [{"text": "CD36", "start": 40, "end": 44}], "disease": [{"text": "atherogenesis", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The overexpressed EphB4 was tyrosine phosphorylated, and we found that EphB4 kinase activity is important for inhibition of integrin-mediated adhesion, although several EphB4 tyrosine phosphorylation sites are dispensable.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 18, "end": 23}], "disease": [{"text": "adhesion", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The EWS-WT1 translocation product induces PDGFA in desmoplastic small round-cell tumour.", "output": {"entities": {"gene": [{"text": "PDGFA", "start": 42, "end": 47}], "disease": [{"text": "desmoplastic", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The increased Cu uptake and elevated ATP7A also facilitate the increase in LOX activity and thus the increase in crosslink of extracellular matrix, and eventually leading to the increase in pulmonary arterial stiffness.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 37, "end": 42}], "disease": [{"text": "arterial stiffness", "start": 200, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "We used the recombinant orf virus to assess the contribution of the viral VEGF to the vascular response seen during orf virus infection of skin.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 74, "end": 78}], "disease": [{"text": "infection of skin", "start": 126, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "HCC related to MS may occur either in advanced fibrosis or before the development of cirrhosis, suggesting involvement of different molecular pathways according to the features of background liver.", "output": {"entities": {"gene": [{"text": "HCC", "start": 0, "end": 3}], "disease": [{"text": "fibrosis", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to determine if NPY Y5 receptor antagonism reduces ethanol self-administration and reinforcement in a rodent genetic animal model of alcoholism.", "output": {"entities": {"gene": [{"text": "NPY Y5 receptor", "start": 46, "end": 61}], "disease": [{"text": "alcoholism", "start": 163, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY Y5 receptor", "start": 46, "end": 61}, "tail": {"text": "alcoholism", "start": 163, "end": 173}}]}}, "schema": []}
{"input": "The second gene fusion event, a translocation between the CLPTM1L and GLIS3 genes, generates a transcript whose product also promotes cancer phenotypes in HCC cell lines.", "output": {"entities": {"gene": [{"text": "HCC", "start": 155, "end": 158}], "disease": [{"text": "translocation", "start": 32, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 24, "end": 52}], "disease": [{"text": "gonadotropin-independent precocious puberty", "start": 71, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 24, "end": 52}, "tail": {"text": "gonadotropin-independent precocious puberty", "start": 71, "end": 114}}]}}, "schema": []}
{"input": "High-density array-based comparative genomic hybridization (aCGH) was performed to clarify genome-wide chromosomal structural alteration profiles of both early and advanced components of this nodule-in-nodule HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 209, "end": 212}], "disease": [{"text": "nodule", "start": 192, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Compared with non-HBC, invasive BRCA1-related HBC had a lower diploidy rate (13% vs. 35%; P = 0. 002), lower mean aneuploid DNA index (1. 53 vs. 1. 73; P = 0. 002), and strikingly higher proliferation rates (mitotic grade 3; odds ratio [OR] = 4. 42; P = 0. 001; aneuploid mean S-phase fraction 16. 5% vs. 9. 3%, P < 0. 0001).", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 32, "end": 37}], "disease": [{"text": "aneuploid", "start": 114, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "To investigate the 192 Gln-Arg polymorphism of paraoxonase (PON) gene and its relationship with serum lipids and apolipoproteins (apo) levels in patients with endogenous hypertriglyceridemia in Chinese population in Chengdu area.", "output": {"entities": {"gene": [{"text": "PON", "start": 60, "end": 63}], "disease": [{"text": "endogenous hypertriglyceridemia", "start": 159, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Transcript levels of nuclear respiratory factor-1, peroxisome proliferator-activated receptor-gamma-coactivator-1alpha, cytochrome oxidase (COX) subunit II, and uncoupling protein-2 (UCP2) were coordinately induced in the hypertrophied right ventricle following hypoxia.", "output": {"entities": {"gene": [{"text": "COX", "start": 140, "end": 143}], "disease": [{"text": "hypoxia", "start": 262, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "We sequenced the MLH1/MSH2 coding and promoter core regions in CRC patients diagnosed below age 40, and/or with multiple primary cancers or familial cancer clustering suggestive of HNPCC, and correlated deleterious mutations with clinical and tumour features.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 22, "end": 26}], "disease": [{"text": "CRC", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH2", "start": 22, "end": 26}, "tail": {"text": "CRC", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "Nm23H1 and H2 are prototypical metastasis suppressors with diverse functions, but recent studies suggest that they may also regulate tumorigenesis.", "output": {"entities": {"gene": [{"text": "Nm23H1", "start": 0, "end": 6}], "disease": [{"text": "tumorigenesis", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "LIF and IGFBP-3 were also expressed in neurofibrillary tangles, as well as in neurons in AD and control brains.", "output": {"entities": {"gene": [{"text": "LIF", "start": 0, "end": 3}], "disease": [{"text": "neurofibrillary tangles", "start": 39, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.", "output": {"entities": {"gene": [{"text": "IL13RA2", "start": 54, "end": 61}], "disease": [{"text": "insulin resistance", "start": 112, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In aggregate, these data identify CEACAM16 as an & #945;-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus.", "output": {"entities": {"gene": [{"text": "CEACAM16", "start": 34, "end": 42}], "disease": [{"text": "ADNSHL", "start": 190, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CEACAM16", "start": 34, "end": 42}, "tail": {"text": "ADNSHL", "start": 190, "end": 196}}]}}, "schema": []}
{"input": "We recently found that an extra-pure formulation of EPA as Free Fatty Acid (EPA-FFA) protects from colon cancer development in a mouse model of Colitis-Associated Cancer (CAC) through modulation of NOTCH1 signalling.", "output": {"entities": {"gene": [{"text": "CAC", "start": 171, "end": 174}], "disease": [{"text": "colon cancer", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The default mode network (DMN) is one of the neural networks that can be used to explore the complex relationships between depressive symptoms, episodic memory deficits and other cognitive impairments.", "output": {"entities": {"gene": [{"text": "DMN", "start": 26, "end": 29}], "disease": [{"text": "depressive symptoms", "start": 123, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 211, "end": 223}], "disease": [{"text": "pilomatricomas", "start": 126, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-catenin", "start": 211, "end": 223}, "tail": {"text": "pilomatricomas", "start": 126, "end": 140}}]}}, "schema": []}
{"input": "Cidea-null mice had higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment.", "output": {"entities": {"gene": [{"text": "Cidea", "start": 0, "end": 5}], "disease": [{"text": "cold", "start": 104, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "cDNA archives were generated by global reverse transcription polymerase chain reaction from CD38 + +/CD19-/CD56-/+ + aberrant PCs of a prospective cohort of 96 subjects, including healthy individuals, patients with monoclonal gammopathies of undetermined significance (MGUS), MM and MM with extramedullary manifestations (ExMM).", "output": {"entities": {"gene": [{"text": "CD19", "start": 101, "end": 105}], "disease": [{"text": "monoclonal gammopathies", "start": 215, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "We employed a recently constructed serotype 5/3 adenovirus, which is more effective than a serotype 5 virus in delivering mda-7/IL-24 to renal carcinoma cells and which conditionally replicates (CR) in tumor cells expressing MDA-7/IL-24 by virtue of placing the adenoviral E1A gene under the control of the cancer-specific promoter progression elevated gene-3 (Ad. 5/3-PEG-E1A-mda-7; CRAd. 5/3-mda-7, Ad. 5/3-CTV), to define efficacy in renal carcinoma cells.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 384, "end": 388}], "disease": [{"text": "cancer", "start": 307, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Anti-Mullerian hormone is a more accurate predictor of individual time to menopause than mother' s age at menopause.", "output": {"entities": {"gene": [{"text": "Anti-Mullerian hormone", "start": 0, "end": 22}], "disease": [{"text": "age at menopause", "start": 99, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V.", "output": {"entities": {"gene": [{"text": "glycyl tRNA synthetase", "start": 88, "end": 110}], "disease": [{"text": "CMT2D", "start": 133, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glycyl tRNA synthetase", "start": 88, "end": 110}, "tail": {"text": "CMT2D", "start": 133, "end": 138}}]}}, "schema": []}
{"input": "We identified the Pro1198Leu ABCC8 mutation in a PNDM patient, and clarified the functional and clinical characterization.", "output": {"entities": {"gene": [{"text": "ABCC8", "start": 29, "end": 34}], "disease": [{"text": "PNDM", "start": 49, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCC8", "start": 29, "end": 34}, "tail": {"text": "PNDM", "start": 49, "end": 53}}]}}, "schema": []}
{"input": "The nuclear translocation of BCL10 was also dependent on BCL3 because silencing BCL3 by RNA interference abrogated this translocation.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 57, "end": 61}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation of the P14 gene was detected in 100/208 (48. 1%), 52/108 (48. 1%), 16/100 (16%) and 8/100 (8%) among HCC, liver cirrhosis, chronic hepatitis and control groups, respectively, with a statistically significant difference between the studied groups (p-value 0. 008).", "output": {"entities": {"gene": [{"text": "HCC", "start": 118, "end": 121}], "disease": [{"text": "chronic hepatitis", "start": 140, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "p53 expression in neurofibroma and malignant peripheral nerve sheath tumor. An immunohistochemical study of sporadic and NF1-associated tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report on the effects of re-establishment of this pathway in a prostate cancer cell line, PC-3, in which this adhesion system is dysfunctional by virtue of a deletion of the gene that codes for alpha-catenin, an E-cadherin-associated protein necessary for normal E-cadherin function.", "output": {"entities": {"gene": [{"text": "cadherin-associated protein", "start": 232, "end": 259}], "disease": [{"text": "prostate cancer", "start": 81, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "KIT/stem cell factor expression in premalignant and malignant lesions of the colon mucosa in relationship to disease progression and outcomes.", "output": {"entities": {"gene": [{"text": "stem cell factor", "start": 4, "end": 20}], "disease": [{"text": "premalignant", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "We report on a pediatric kidney transplant recipient with NPHS2-associated nephrotic syndrome and FSGS, who developed biopsy-proven recurrence of FSGS 10 years post-transplant in temporal association with conversion from cyclosporin A (CsA)-to sirolimus (SRL)-based immunosuppression, due to histological evidence of severe CsA-induced nephrotoxicity.", "output": {"entities": {"gene": [{"text": "SRL", "start": 255, "end": 258}], "disease": [{"text": "nephrotic syndrome", "start": 75, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In addition, 5 ERM samples from PDR patients aged 51 +/-16 years with 15 +/-6 years of diabetes were processed for immunohistochemical analysis.", "output": {"entities": {"gene": [{"text": "ERM", "start": 15, "end": 18}], "disease": [{"text": "diabetes", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Consequently, we explored the possibility that JARID2 itself could be a candidate gene for 6p22. 3-linked SZ.", "output": {"entities": {"gene": [{"text": "JARID2", "start": 47, "end": 53}], "disease": [{"text": "SZ", "start": 106, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JARID2", "start": 47, "end": 53}, "tail": {"text": "SZ", "start": 106, "end": 108}}]}}, "schema": []}
{"input": "Our results show that in DEN-treated rats, although the progression of liver fibrosis is associated with hepatocellular hypoxia and angiogenesis, VEGF and Flt-1 expressions in the liver are increased and correlated with the density of microvessels.", "output": {"entities": {"gene": [{"text": "Flt-1", "start": 155, "end": 160}], "disease": [{"text": "liver fibrosis", "start": 71, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Flt-1", "start": 155, "end": 160}, "tail": {"text": "liver fibrosis", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "Compartmentalized expression of Th1 and Th17 cytokines in pediatric inflammatory bowel diseases.", "output": {"entities": {"gene": [{"text": "Th1", "start": 32, "end": 35}], "disease": [{"text": "inflammatory bowel diseases", "start": 68, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "CCN family, comprising six members (Cyr61, CTGF, Nov, WISP-1, WISP-2, WISP-3), is involved in the stimulation of cell proliferation, migration, adhesion, angiogenesis, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 36, "end": 41}], "disease": [{"text": "adhesion", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Thus, HA-1-specific immunotherapy combined with HLA-identical allogeneic SCT may now be feasible for patients with HA-1 (+) carcinomas.", "output": {"entities": {"gene": [{"text": "HA-1", "start": 6, "end": 10}], "disease": [{"text": "carcinomas", "start": 124, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "It is well known that the responses of serum gamma glutamyl transferase (GGT) to chronic alcohol drinking are different depending on the individual.", "output": {"entities": {"gene": [{"text": "GGT", "start": 73, "end": 76}], "disease": [{"text": "alcohol drinking", "start": 89, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results show that EphA1 appears to be a differentiation marker for esophageal squamous cells, and its increased expression is positively associated with lymph node metastasis and advanced disease stage.", "output": {"entities": {"gene": [{"text": "EphA1", "start": 38, "end": 43}], "disease": [{"text": "esophageal", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we propose that the activating FCGR2C-ORF genotype predisposes to ITP by altering the balance of activating and inhibitory FcgammaR on immune cells.", "output": {"entities": {"gene": [{"text": "FCGR2C", "start": 42, "end": 48}], "disease": [{"text": "ITP", "start": 77, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FCGR2C", "start": 42, "end": 48}, "tail": {"text": "ITP", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "After stratification with the strongest outcome predictor, grading, survival analysis revealed that Ptc expression in grade 2 and PDX-1 expression in grade 3 carcinomas are independent survival factors.", "output": {"entities": {"gene": [{"text": "PDX-1", "start": 130, "end": 135}], "disease": [{"text": "carcinomas", "start": 158, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Both carriers were also associated with symptomatic NCC (P <. 001 for Gly; P <. 004 for Ile), when compared with asymptomatic NCC.", "output": {"entities": {"gene": [{"text": "NCC", "start": 52, "end": 55}], "disease": [{"text": "asymptomatic", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide some further evidence to suggest that PON1 Q192R is associated with preterm birth; they invite further investigation of both maternal and fetal genotype for PON1 Q192R in relation to preterm birth.", "output": {"entities": {"gene": [{"text": "PON1", "start": 59, "end": 63}], "disease": [{"text": "preterm birth", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The patient' s tumor consisted of 5 different histological features in a single nodule: well-differentiated HCC with trabecular pattern; and moderately differentiated HCC with 4 different patterns (i. e., trabecular, pseudoglandular, solid, and scirrhous).", "output": {"entities": {"gene": [{"text": "HCC", "start": 108, "end": 111}], "disease": [{"text": "nodule", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Our earlier studies identified the DP-1 gene (TFDP1) as a probable target within a 13q34 amplicon that is frequently detected in hepatocellular carcinomas (HCC) and esophageal squamous-cell carcinomas.", "output": {"entities": {"gene": [{"text": "TFDP1", "start": 46, "end": 51}], "disease": [{"text": "carcinomas", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Upon stimulation of rat hepatoma cells, CT-1 and LIF induced the strongest rat fibrinogen mRNA expression, OSM and IL-6 induced a less pronounced response.", "output": {"entities": {"gene": [{"text": "OSM", "start": 107, "end": 110}], "disease": [{"text": "hepatoma", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that AURKA amplification contributes to pancreatic tumorigenesis by increasing centrosome abnormality and chromosome instability, the current study explored the associations between AURKA amplification, chromosome instability, centrosome abnormality, and the expression of several important proteins that are involved in cell proliferation (Ki-67), cell cycle regulation (p53, p16), and apoptosis (survivin) in 12 human pancreatic carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 28, "end": 33}], "disease": [{"text": "tumorigenesis", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "From another aspect, IFN-gamma has been revealed to suppress c-myc expression in vivo through a stat1-dependent mechanism, which is important for cell growth, cell cycle and chromosome instability.", "output": {"entities": {"gene": [{"text": "stat1", "start": 96, "end": 101}], "disease": [{"text": "chromosome instability", "start": 174, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Based on these results, we propose that Pitx3-/-mice may serve as a useful genetic animal model for co-morbid depressive disorder and parkinsonism.", "output": {"entities": {"gene": [{"text": "Pitx3", "start": 40, "end": 45}], "disease": [{"text": "depressive disorder", "start": 110, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pitx3", "start": 40, "end": 45}, "tail": {"text": "depressive disorder", "start": 110, "end": 129}}]}}, "schema": []}
{"input": "Interestingly, TIMs were also co-expressed with some members of the B7 superfamily, including B7-H1, B7-H3 and B7-H4 on sarcoma cells.", "output": {"entities": {"gene": [{"text": "B7-H3", "start": 101, "end": 106}], "disease": [{"text": "sarcoma", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In vitro, periostin increased proliferation, adhesion, migration, and collagen production in RPE cells through integrin αV-mediated FAK and AKT phosphorylation.", "output": {"entities": {"gene": [{"text": "AKT", "start": 140, "end": 143}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Here, we found that in mice, subchronic administration of the psychoactive component of cannabis, delta9-tetrahydrocannabinol (THC), activated cerebellar microglia and increased the expression of neuroinflammatory markers, including IL-1 & #946;.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 233, "end": 237}], "disease": [{"text": "cannabis", "start": 88, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1", "start": 233, "end": 237}, "tail": {"text": "cannabis", "start": 88, "end": 96}}]}}, "schema": []}
{"input": "Expression of hMSH2 gene and mutant p53 in sporadic digestive tract tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 36, "end": 39}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "B-cell attracting chemokines may therefore have relevance in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNPs) Methods: Polyp and inferior turbinate tissues were obtained from CRSwNPs, CRS without NPs (CRSsNPs), and control patients; ELISA and reverse-transcription polymerase chain reaction were used to detect levels of protein and mRNA for selected B-cell chemokines (B-cell attracting chemokine 1 [CXCL13/BCA-1/BLC]), thymus expressed chemokine (CCL25/TECK), mucosae-associated epithelial chemokine (CCL28/MEC), stromal cell-derived factor-1alpha (CXCL12/SDF-1alpha), and selected chemokine receptor genes (CXCR4, CXCR5, and CXCR7).", "output": {"entities": {"gene": [{"text": "BLC", "start": 436, "end": 439}], "disease": [{"text": "nasal polyps", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Toward this goal, we investigated the difference in the ACh receptor repertoires between normal and malignant BECs, determined effects of nicotinic ligands on 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK)-dependent activation of ERK1/2 and tumorigenic transformation of MCF10A cells, and characterized reciprocal effects of NNK and SLURP (secreted mammalian Ly-6/urokinase plasminogen activator receptor related protein-1)-1 on the expression of nAChR subunits and several oncogenes and tumor-suppressing genes in BECs.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 236, "end": 240}], "disease": [{"text": "tumorigenic transformation", "start": 247, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous CBP-deficient mice, which had truncated CBP protein (residues 1-1084) containing the CREB-binding domain (residues 462-661), showed clinical features of RTS, such as growth retardation (100%), retarded osseous maturation (100%), hypoplastic maxilla with narrow palate (100%), cardiac anomalies (15%) and skeletal abnormalities (7%).", "output": {"entities": {"gene": [{"text": "CBP", "start": 13, "end": 16}], "disease": [{"text": "growth retardation", "start": 179, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Tetraploidy was significantly 3 times more common in BRCA2 breast cancers than sporadic.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 53, "end": 58}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine the prevalence of GCM2 gene mutations in patients with familial or sporadic forms of isolated hypoparathyroidism (IH).", "output": {"entities": {"gene": [{"text": "GCM2 gene", "start": 41, "end": 50}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus.", "output": {"entities": {"gene": [{"text": "AVP", "start": 154, "end": 157}], "disease": [{"text": "neurohypophyseal diabetes insipidus", "start": 201, "end": 236}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AVP", "start": 154, "end": 157}, "tail": {"text": "neurohypophyseal diabetes insipidus", "start": 201, "end": 236}}]}}, "schema": []}
{"input": "Results from the current meta-analysis indicate that EGF + 61A > G polymorphism might increase the risk of esophageal and colorectal cancers.", "output": {"entities": {"gene": [{"text": "EGF", "start": 53, "end": 56}], "disease": [{"text": "esophageal", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The phenotype in patients with mutations in both EDAR alleles was comparable to males with X-linked HED.", "output": {"entities": {"gene": [{"text": "EDAR", "start": 49, "end": 53}], "disease": [{"text": "HED", "start": 100, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDAR", "start": 49, "end": 53}, "tail": {"text": "HED", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.", "output": {"entities": {"gene": [{"text": "TP63", "start": 56, "end": 60}], "disease": [{"text": "Rapp-Hodgkin syndrome", "start": 4, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP63", "start": 56, "end": 60}, "tail": {"text": "Rapp-Hodgkin syndrome", "start": 4, "end": 25}}]}}, "schema": []}
{"input": "Notably, several germline mutations were found matching between paired FNMTC patients from the same family, including APC L292F and A2778S, BRAF D22N, MSH6 G355S and A36V, MSH2 L719F, MEN1 G508D, BRCA1 SS955S, BRCA2 G2508S, and a GNAS inframe insertion.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 151, "end": 155}], "disease": [{"text": "FNMTC", "start": 71, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MSH6", "start": 151, "end": 155}, "tail": {"text": "FNMTC", "start": 71, "end": 76}}]}}, "schema": []}
{"input": "We found significant associations between SLE and genetic variants within TNIP1, but not in TNIP2 or TAX1BP1.", "output": {"entities": {"gene": [{"text": "TNIP1", "start": 74, "end": 79}], "disease": [{"text": "SLE", "start": 42, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNIP1", "start": 74, "end": 79}, "tail": {"text": "SLE", "start": 42, "end": 45}}]}}, "schema": []}
{"input": "To examine the relationship of the serum C-reactive protein (CRP) and endothelial function and their associations with coronary artery calcification, lipid profile and cardiac changes.", "output": {"entities": {"gene": [{"text": "CRP", "start": 61, "end": 64}], "disease": [{"text": "coronary artery calcification", "start": 119, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.", "output": {"entities": {"gene": [{"text": "acid beta-galactosidase", "start": 52, "end": 75}], "disease": [{"text": "Morquio disease type B", "start": 149, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid beta-galactosidase", "start": 52, "end": 75}, "tail": {"text": "Morquio disease type B", "start": 149, "end": 171}}]}}, "schema": []}
{"input": "We studied a cohort containing 368 children at high risk of developing atopy and atopic disorders and 540 parents of those children to investigate whether the IL13 Arg130Gln and C-1112 T polymorphisms were associated with these outcomes.", "output": {"entities": {"gene": [{"text": "IL13", "start": 159, "end": 163}], "disease": [{"text": "atopic", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "When the data was combined across genders and analysed by age, the decrease in Freud-1 protein level was greater in the younger MDD subjects (48%, p = 0. 01) relative to age-matched controls as opposed to older depressed subjects.", "output": {"entities": {"gene": [{"text": "Freud-1", "start": 79, "end": 86}], "disease": [{"text": "MDD", "start": 128, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Freud-1", "start": 79, "end": 86}, "tail": {"text": "MDD", "start": 128, "end": 131}}]}}, "schema": []}
{"input": "Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 56, "end": 61}], "disease": [{"text": "breast cancer", "start": 83, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 56, "end": 61}, "tail": {"text": "breast cancer", "start": 83, "end": 96}}]}}, "schema": []}
{"input": "Gene sets for hypoxia, proliferation and intrinsic radiosensitivity did not correlate with recurrence, whereas expression of the putative stem cell marker CD44 did.", "output": {"entities": {"gene": [{"text": "CD44", "start": 155, "end": 159}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 111, "end": 115}], "disease": [{"text": "fragile X syndrome", "start": 52, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMR1", "start": 111, "end": 115}, "tail": {"text": "fragile X syndrome", "start": 52, "end": 70}}]}}, "schema": []}
{"input": "The most significant p value was obtained for the SNP in the ELAVL2 [(embryonic lethal, abnormal vision, Drosophila)-like 2] gene located on 9p21. 3 (p = 0. 00087).", "output": {"entities": {"gene": [{"text": "ELAVL2", "start": 61, "end": 67}], "disease": [{"text": "abnormal vision", "start": 88, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Because 5-HT induces release of S100beta, we investigated the codependence of 5-HT receptors and SERT in regulating S100A4/Mts1 in human pulmonary artery smooth muscle cells (hPA-SMC).", "output": {"entities": {"gene": [{"text": "Mts1", "start": 123, "end": 127}], "disease": [{"text": "codependence", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Increased connective tissue growth factor relative to brain natriuretic peptide as a determinant of myocardial fibrosis.", "output": {"entities": {"gene": [{"text": "connective tissue growth factor", "start": 10, "end": 41}], "disease": [{"text": "myocardial fibrosis", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "No effects were seen on LV weight, cardiac insulin-like growth factor (IGF) I, IGF-I receptor and GH receptor mRNA content.", "output": {"entities": {"gene": [{"text": "IGF", "start": 71, "end": 74}], "disease": [{"text": "weight", "start": 27, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these results not only identify a pathway downstream from Rheb that contributes to tipifarnib cytotoxicity in human acute myelogenous leukemia cells, but also demonstrate that FTI-induced killing of lymphoid versus myeloid cells reflects distinct biochemical mechanisms downstream of different farnesylated substrates.", "output": {"entities": {"gene": [{"text": "Rheb", "start": 72, "end": 76}], "disease": [{"text": "acute myelogenous leukemia", "start": 130, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Notably, APOBEC3B is upregulated, and its preferred target sequence is frequently mutated and clustered in at least six distinct cancers: bladder, cervix, lung (adenocarcinoma and squamous cell carcinoma), head and neck, and breast.", "output": {"entities": {"gene": [{"text": "APOBEC3B", "start": 9, "end": 17}], "disease": [{"text": "lung (adenocarcinoma", "start": 155, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3B", "start": 9, "end": 17}, "tail": {"text": "lung (adenocarcinoma", "start": 155, "end": 175}}]}}, "schema": []}
{"input": "CONCLUSIONS: We provide the first direct evidence for RGC-32 as a hypoxia-inducible gene and antiangiogenic factor in endothelial cells.", "output": {"entities": {"gene": [{"text": "RGC-32", "start": 54, "end": 60}], "disease": [{"text": "hypoxia", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Significant differences of TLR4-NFkappaB pathway molecules and SOCS1 mRNA expression in laryngeal tumor cells and normal adjacent mucosa cells as well as significant interconnections of TLR4, SOCS1 and NFkappaB (p65) in isolated tumor cells were obtained.", "output": {"entities": {"gene": [{"text": "p65", "start": 212, "end": 215}], "disease": [{"text": "laryngeal tumor", "start": 88, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "BPIFB1 was localized in CF lung samples along with BPIFA1, MUC5AC, CD68 and NE and directly compared to histologically normal lung tissues and that of bacterial pneumonia.", "output": {"entities": {"gene": [{"text": "BPIFA1", "start": 51, "end": 57}], "disease": [{"text": "bacterial pneumonia", "start": 151, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Biological basis of the HLA-B8, DR3-associated progression of acquired immune deficiency syndrome.", "output": {"entities": {"gene": [{"text": "DR3", "start": 32, "end": 35}], "disease": [{"text": "immune deficiency", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis).", "output": {"entities": {"gene": [{"text": "SLC12A3", "start": 16, "end": 23}], "disease": [{"text": "GS", "start": 108, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC12A3", "start": 16, "end": 23}, "tail": {"text": "GS", "start": 108, "end": 110}}]}}, "schema": []}
{"input": "This alteration was not associated with phosphatase and tensin homologue (PTEN), K-RAS, or beta-catenin mutations, but was more frequent among tumors showing microsatellite instability (MSI) or among tumors that were estrogen receptor positive.", "output": {"entities": {"gene": [{"text": "tensin", "start": 56, "end": 62}], "disease": [{"text": "microsatellite instability", "start": 158, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In comparing the radiology of the novel Th-ALK (F1174L)/Th-MYCN and the well-established Th-MYCN genetically-engineered murine models of neuroblastoma using MRI, we have identified a marked ALK (F1174L)-driven vascular phenotype.", "output": {"entities": {"gene": [{"text": "MRI", "start": 157, "end": 160}], "disease": [{"text": "neuroblastoma", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Human PTH-(1-34) caused a rise in serum calcium, a rise in nephrogenous cAMP, a fall in renal phosphate reabsorption, and, in particular, a rise in serum 1, 25-(OH) 2D.", "output": {"entities": {"gene": [{"text": "PTH", "start": 6, "end": 9}], "disease": [{"text": "fall", "start": 80, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the effects of common GSTM1, GSTT1, and GSTP1 genetic mutations on the severity of myelosuppression, gastrointestinal (GI) toxicity, and infection incidences induced by pulsed CTX therapy were evaluated in patients SLE.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 62, "end": 67}], "disease": [{"text": "myelosuppression", "start": 105, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Using immunohistochemistry, expression of CD9 was studied in 17 samples of head and neck mucosa and skin (laryngeal mucosa: n = 2, oral: n = 6, and epidermis: n = 9) and a variety of vascular tumors (lymphangiomas: n = 9, juvenile nasopharyngeal angiofibromas: n = 4, hemangiomas: n = 7, angiosarcomas: n = 5, and Kaposi' s sarcomas: n = 7) and compared with the expression of CD34 and PAL-E (blood vessel markers) and the lymphatic marker podoplanin.", "output": {"entities": {"gene": [{"text": "CD34", "start": 377, "end": 381}], "disease": [{"text": "angiofibromas", "start": 246, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "This study compared microstructural abnormalities in depressed elders and controls and studied the association of the serotonin transporter gene status to white matter abnormalities and to remission of depression.", "output": {"entities": {"gene": [{"text": "serotonin transporter", "start": 118, "end": 139}], "disease": [{"text": "abnormalities", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "GLP-1 receptor agonists have been shown to increase calcitonin secretion and stimulate C-cell hyperplasia and neoplasia in rats and mice of both sexes.", "output": {"entities": {"gene": [{"text": "GLP-1 receptor", "start": 0, "end": 14}], "disease": [{"text": "hyperplasia", "start": 94, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLP-1 receptor", "start": 0, "end": 14}, "tail": {"text": "hyperplasia", "start": 94, "end": 105}}]}}, "schema": []}
{"input": "Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p. Leu167del mutation.", "output": {"entities": {"gene": [{"text": "APOE", "start": 95, "end": 99}], "disease": [{"text": "autosomal dominant hypercholesterolemia", "start": 35, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APOE", "start": 95, "end": 99}, "tail": {"text": "autosomal dominant hypercholesterolemia", "start": 35, "end": 74}}]}}, "schema": []}
{"input": "Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis.", "output": {"entities": {"gene": [{"text": "alpha-enolase", "start": 81, "end": 94}], "disease": [{"text": "smoking", "start": 39, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge this is the first study identifying the novel polymorphisms of the ORAI1 gene, which may predispose to the risk of calcium nephrolithiasis and disease recurrence.", "output": {"entities": {"gene": [{"text": "ORAI1 gene", "start": 84, "end": 94}], "disease": [{"text": "calcium nephrolithiasis", "start": 132, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "TRIM62 loss was associated with altered expression of proteins involved in leukemia stem cell homeostasis (β-catenin and Notch), cell motility, and adhesion (integrin-β3, ras-related C3 botulinum toxin substrate [RAC], and fibronectin), hypoxia (Hypoxia-inducible factor 1-alpha [HIF1α], egl-9 family hypoxia-inducible factor 1 [Egln1], and glucose-regulated protein, 78 kDa [GRP78]), and apoptosis (B-cell lymphoma-extra large (BclXL) and caspase 9).", "output": {"entities": {"gene": [{"text": "RAC", "start": 213, "end": 216}], "disease": [{"text": "adhesion", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "There is evidence indicating that RelB may serve as a pro-survival factor, including its ability to promote \" inflammation resolution \" besides the association of RelB with inflammatory disorders.", "output": {"entities": {"gene": [{"text": "RelB", "start": 34, "end": 38}], "disease": [{"text": "inflammation", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Core 2 beta1, 6-N-acetylglucosaminyltransferase-1 (C2GnT-1) is mainly expressed in BCP-leukemia cells.", "output": {"entities": {"gene": [{"text": "C2GnT", "start": 51, "end": 56}], "disease": [{"text": "leukemia", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "p53 mutations in sporadic adrenocortical tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Interaction between TNFR1 and TNFR2 dominates the clinicopathologic features of human hypopharyneal carcinoma.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 20, "end": 25}], "disease": [{"text": "carcinoma", "start": 100, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "15-LOX-2 was detected in 76% (28/37) of the normal esophageal mucosae, but only in 46% (29/63) of the cancer specimens using IHC (P <. 01).", "output": {"entities": {"gene": [{"text": "15-LOX-2", "start": 0, "end": 8}], "disease": [{"text": "esophageal", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Although previous studies have demonstrated that DBP led to a variety of male reproductive abnormalities similar to those caused by androgen receptor antagonists, DBP and its active metabolite, mono-butyl phthalate (MBP), have been demonstrated no affinity for the androgen receptor, but rather exert anti-androgenic effect by altering testosterone biosynthesis.", "output": {"entities": {"gene": [{"text": "DBP", "start": 49, "end": 52}], "disease": [{"text": "abnormalities", "start": 91, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In the course of the procedure of differential diagnoses, we included fluorescence in situ hybridization analysis for detection of a FAM22B-YWHAE fusion gene resulting from t (10; 17) (q22; p13), recently reported in a series of endometrial stromal sarcoma, and unexpectedly identified breakages at three loci, i. e.", "output": {"entities": {"gene": [{"text": "p13", "start": 190, "end": 193}], "disease": [{"text": "endometrial stromal sarcoma", "start": 229, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "We also observed partial or entire loss of expression in genes such as CCBE1, CCDC11, CD226, NP_115536. 1, NP_689683. 2, RNF152, SERPINB8, and TCF4 in certain breast and/or prostate cancer cell lines.", "output": {"entities": {"gene": [{"text": "CCDC11", "start": 78, "end": 84}], "disease": [{"text": "prostate cancer", "start": 173, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 11, "end": 16}], "disease": [{"text": "RTT", "start": 46, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 11, "end": 16}, "tail": {"text": "RTT", "start": 46, "end": 49}}]}}, "schema": []}
{"input": "Association between the G protein beta3 subunit 825t allele and radial artery hypertrophy.", "output": {"entities": {"gene": [{"text": "beta3", "start": 34, "end": 39}], "disease": [{"text": "hypertrophy", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In the present study we investigated the link of non-synonymous variants of five genes of the Notch pathway (NOTCH2, NOTCH3, JAGGED2, ASCL1 and NUMBL) to schizophrenia in a group of 200 Brazilian patients and 200-paired controls.", "output": {"entities": {"gene": [{"text": "JAGGED2", "start": 125, "end": 132}], "disease": [{"text": "schizophrenia", "start": 154, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JAGGED2", "start": 125, "end": 132}, "tail": {"text": "schizophrenia", "start": 154, "end": 167}}]}}, "schema": []}
{"input": "This dissociation may shed light on the pathogenesis of familial hyperkalemia and hypertension, on pregnancy-related hypertension, and on the mechanism of action of WNK4 kinase, a major regulator of cellular ion transport.", "output": {"entities": {"gene": [{"text": "WNK4", "start": 165, "end": 169}], "disease": [{"text": "dissociation", "start": 5, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "In the present study we have examined the MATA1 gene of eight hypermethioninemic individuals, including the two with demyelination of the brain.", "output": {"entities": {"gene": [{"text": "MATA1", "start": 42, "end": 47}], "disease": [{"text": "brain", "start": 138, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MATA1", "start": 42, "end": 47}, "tail": {"text": "brain", "start": 138, "end": 143}}]}}, "schema": []}
{"input": "Transforming growth factor-beta1 (TGF-beta1) signalling was analysed in liver samples of dogs with acute hepatitis (AH), chronic hepatitis (CH), cirrhosis (CIRR), and a specific form of cirrhosis, lobular dissecting hepatitis (LDH), in comparison with human cirrhotic samples from alcohol abuse (ALC) and hepatitis C (HC).", "output": {"entities": {"gene": [{"text": "ALC", "start": 296, "end": 299}], "disease": [{"text": "acute hepatitis", "start": 99, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "IL-13 is an important factor in AEDS development in early childhood, and prophylactic anti-staphylococcal treatment may provide protection from AEDS in atopic individuals.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 0, "end": 5}], "disease": [{"text": "atopic", "start": 152, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "These findings support that CPA4 is imprinted and may become a strong candidate gene for prostate cancer-aggressiveness.", "output": {"entities": {"gene": [{"text": "CPA4", "start": 28, "end": 32}], "disease": [{"text": "aggressiveness", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Microsatellite instability and p53 mutations in sporadic right and left colon carcinoma: different clinical and molecular implications.", "output": {"entities": {"gene": [{"text": "p53", "start": 31, "end": 34}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Joint effect of polymorphism in the N-acetyltransferase 2 gene and smoking on hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "N-acetyltransferase 2", "start": 36, "end": 57}], "disease": [{"text": "smoking", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "N-Acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder, which may present in the neonatal period with severe hyperammonemia and marked neurological impairment.", "output": {"entities": {"gene": [{"text": "NAGS", "start": 28, "end": 32}], "disease": [{"text": "neurological impairment", "start": 155, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Myricetin exerts anti-proliferative, anti-invasive, and pro-apoptotic effects on esophageal carcinoma EC9706 and KYSE30 cells via RSK2.", "output": {"entities": {"gene": [{"text": "RSK2", "start": 130, "end": 134}], "disease": [{"text": "esophageal carcinoma", "start": 81, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Hsp27 ASO and small interference RNA also enhanced paclitaxel chemosensitivity in vitro, whereas in vivo, systemic administration of Hsp27 ASO in athymic mice decreased PC-3 tumor progression and also significantly enhanced paclitaxel chemosensitivity.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 169, "end": 173}], "disease": [{"text": "tumor progression", "start": 174, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Wnt7a signaling through its receptor Fzd7 accelerates and augments regeneration by stimulating satellite stem cell expansion through the planar cell polarity pathway, as well as myofiber hypertrophy through the AKT/mammalian target of rapamycin (mTOR) anabolic pathway.", "output": {"entities": {"gene": [{"text": "AKT", "start": 211, "end": 214}], "disease": [{"text": "hypertrophy", "start": 187, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Consequently, FGF2 plays a major role in cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 14, "end": 18}], "disease": [{"text": "cardiac hypertrophy", "start": 41, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF2", "start": 14, "end": 18}, "tail": {"text": "cardiac hypertrophy", "start": 41, "end": 60}}]}}, "schema": []}
{"input": "The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes.", "output": {"entities": {"gene": [{"text": "CIAS1", "start": 154, "end": 159}], "disease": [{"text": "MWS", "start": 55, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CIAS1", "start": 154, "end": 159}, "tail": {"text": "MWS", "start": 55, "end": 58}}]}}, "schema": []}
{"input": "Thus, 5-HT (1B) mRNA is upregulated by repeated exposure to cocaine and perhaps by social stress as well; both of these factors are relevant to the risk for relapse in cocaine addiction.", "output": {"entities": {"gene": [{"text": "5-HT (1B", "start": 6, "end": 14}], "disease": [{"text": "cocaine addiction", "start": 168, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (1B", "start": 6, "end": 14}, "tail": {"text": "cocaine addiction", "start": 168, "end": 185}}]}}, "schema": []}
{"input": "Single-cell analysis of circulating tumor cells identifies cumulative expression patterns of EMT-related genes in metastatic prostate cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 93, "end": 96}], "disease": [{"text": "metastatic prostate cancer", "start": 114, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan' s syndrome, ectopia lentis and neonatal Marfan' s syndrome.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 33, "end": 37}], "disease": [{"text": "Marfan' s syndrome", "start": 68, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 33, "end": 37}, "tail": {"text": "Marfan' s syndrome", "start": 68, "end": 86}}]}}, "schema": []}
{"input": "After short-term (3-d) exposure to cyclic hypoxia, mitochondrial manganese superoxide dismutase (MnSOD) was upregulated and 70-kd heat shock proteins (HSP70) were downregulated.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 151, "end": 156}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The heterogeneity of the mutations, their mutational origins, and the varied ethnic backgrounds of the patients, indicate that the majority of XLMTM families are affected by unique MTM1 mutations.", "output": {"entities": {"gene": [{"text": "MTM1", "start": 181, "end": 185}], "disease": [{"text": "XLMTM", "start": 143, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTM1", "start": 181, "end": 185}, "tail": {"text": "XLMTM", "start": 143, "end": 148}}]}}, "schema": []}
{"input": "X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22. 1-p21. 3 in a Belgian family.", "output": {"entities": {"gene": [{"text": "p21", "start": 90, "end": 93}], "disease": [{"text": "hypogonadism", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.", "output": {"entities": {"gene": [{"text": "deafness-dystonia peptide", "start": 165, "end": 190}], "disease": [{"text": "deafness-dystonia syndrome", "start": 19, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "deafness-dystonia peptide", "start": 165, "end": 190}, "tail": {"text": "deafness-dystonia syndrome", "start": 19, "end": 45}}]}}, "schema": []}
{"input": "In conclusion, it was found that mutations in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype and phenotype or outcome.", "output": {"entities": {"gene": [{"text": "SH2D1A", "start": 50, "end": 56}], "disease": [{"text": "XLP", "start": 82, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH2D1A", "start": 50, "end": 56}, "tail": {"text": "XLP", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "Enzymatic amplification technique was used to isolate all eight exons and sequences around the splice junctions, putative promoter, and polyadenylation sites of human factor X DNA from a patient with factor X deficiency.", "output": {"entities": {"gene": [{"text": "factor X", "start": 167, "end": 175}], "disease": [{"text": "factor X deficiency", "start": 200, "end": 219}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor X", "start": 167, "end": 175}, "tail": {"text": "factor X deficiency", "start": 200, "end": 219}}]}}, "schema": []}
{"input": "Consistent with the overexpression of miR-519c in cancer patients with better prognosis, mice injected with miR-519c-overexpressing cells exhibited dramatically reduced HIF-1alpha levels, followed by suppressed tumor angiogenesis, growth, and metastasis.", "output": {"entities": {"gene": [{"text": "miR-519c", "start": 38, "end": 46}], "disease": [{"text": "metastasis", "start": 243, "end": 253}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-519c", "start": 38, "end": 46}, "tail": {"text": "metastasis", "start": 243, "end": 253}}]}}, "schema": []}
{"input": "In addition, when myeloma cells were coincubated with 50 microM etodolac on bone marrow stromal cells (BMSCs), myeloma cell adhesion to BMSCs was significantly inhibited compared with thalidomide or meloxicam coincubation, and the adhesion molecules VLA-4, LFA-1 (CD11a), CXCX4, and CD44 were suppressed on myeloma cells treated with etodolac.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 264, "end": 269}], "disease": [{"text": "adhesion", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Hyperthyroid rats presented lower sperm motility, higher levels of lipid hydroperoxides and thiobarbituric reactive substances, lower catalase and glutathione peroxidase activities and higher glutathione-S-transferase activity in their testes than control animals.", "output": {"entities": {"gene": [{"text": "catalase", "start": 134, "end": 142}], "disease": [{"text": "Hyperthyroid", "start": 0, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "catalase", "start": 134, "end": 142}, "tail": {"text": "Hyperthyroid", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "No pathogenic mutations were identified; however, a variant in the promoter of PACRG was shown to be significantly associated with azoospermia, but not oligospermia, in the case-control cohort.", "output": {"entities": {"gene": [{"text": "PACRG", "start": 79, "end": 84}], "disease": [{"text": "azoospermia", "start": 131, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM).", "output": {"entities": {"gene": [{"text": "NTM", "start": 241, "end": 244}], "disease": [{"text": "cystic fibrosis", "start": 82, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "A number of SNPs in the IL10, CYP24A1, CYP2R1, IL1RL1 and CD86 genes were modestly associated with asthma and atopy (p < 0. 05).", "output": {"entities": {"gene": [{"text": "CYP2R1", "start": 39, "end": 45}], "disease": [{"text": "atopy", "start": 110, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "In a study of 58 sporadic and 34 BRCA2 999del5 Icelandic invasive cancers, there was a significant association of LOH at 3p14. 2 with reduced expression of Fhit (P = 0. 001); also the lower expression of Fhit and higher LOH at 3p14. 2 in BRCA2 999del5 tumors relative to sporadic cancers was significant (P = 0. 002).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 33, "end": 38}], "disease": [{"text": "sporadic", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Frequent hypermethylation of RASSF1A and TSLC1, and high viral load of Epstein-Barr Virus DNA in nasopharyngeal carcinoma and matched tumor-adjacent tissues.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 29, "end": 36}], "disease": [{"text": "viral load", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "This comprehensive meta-analysis provides confirmatory evidence that multiple SORL1 variants in distinct linkage disequilibrium blocks are associated with AD.", "output": {"entities": {"gene": [{"text": "SORL1", "start": 78, "end": 83}], "disease": [{"text": "AD", "start": 155, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SORL1", "start": 78, "end": 83}, "tail": {"text": "AD", "start": 155, "end": 157}}]}}, "schema": []}
{"input": "We could demonstrate an up-regulation of HO-1 protein in CCl (4)-exposed liver tissue that reaches its maximum after 6 to 12 h, along with intrahepatic leukocyte accumulation and tissue injury.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 41, "end": 45}], "disease": [{"text": "liver", "start": 73, "end": 78}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HO-1", "start": 41, "end": 45}, "tail": {"text": "liver", "start": 73, "end": 78}}]}}, "schema": []}
{"input": "Here we show that DA3 mouse mammary tumor cells stably transfected with a truncated genomic fragment of human MUC1 undergo EMT.", "output": {"entities": {"gene": [{"text": "EMT", "start": 123, "end": 126}], "disease": [{"text": "mammary tumor", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5.", "output": {"entities": {"gene": [{"text": "GDF5", "start": 90, "end": 94}], "disease": [{"text": "BDC", "start": 39, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF5", "start": 90, "end": 94}, "tail": {"text": "BDC", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "Loss of heterozygosity of APC, 3p, p53, p16, and K-ras mutations were present in 21%, 40%, 27%, 20%, and 19% of CUC patients with hyperplastic polyps, respectively, and in 0%, 11%, 20%, 13%, and 13% of non-CUC patients with sporadic polyps, respectively.", "output": {"entities": {"gene": [{"text": "p53", "start": 35, "end": 38}], "disease": [{"text": "sporadic", "start": 224, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "Until recently, the main genetic defects known to be associated with thromboembolism were antithrombin III, protein C and protein S deficiency accounting together for about 10% of the cases.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 90, "end": 106}], "disease": [{"text": "thromboembolism", "start": 69, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "p53 null mutations were found in 31. 4% of BRCA1 mutant cancers, compared with only 9. 3% of the sporadic cancers (P = 0. 002).", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Prognostic role of osteopontin expression in malignant pleural mesothelioma.", "output": {"entities": {"gene": [{"text": "osteopontin", "start": 19, "end": 30}], "disease": [{"text": "mesothelioma", "start": 63, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "osteopontin", "start": 19, "end": 30}, "tail": {"text": "mesothelioma", "start": 63, "end": 75}}]}}, "schema": []}
{"input": "The serotonin transporter (5-HTT) is the selective site of action of most proserotonergic compounds used to treat bipolar depression.", "output": {"entities": {"gene": [{"text": "5-HTT", "start": 27, "end": 32}], "disease": [{"text": "bipolar depression", "start": 114, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HTT", "start": 27, "end": 32}, "tail": {"text": "bipolar depression", "start": 114, "end": 132}}]}}, "schema": []}
{"input": "Together, our results demonstrate for the first time that fenofibrate inhibits RPB4 expression in dyslipidemic human subjects and suggest that inhibition of RBP4 expression in adipocytes may provide a mechanism by which fenofibrate improves insulin sensitivity in dyslipidemic patients.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 157, "end": 161}], "disease": [{"text": "insulin sensitivity", "start": 241, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Two mutations in the TP53 gene in a sporadic and a radiation-induced tumor were detected.", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 21, "end": 30}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Especially, the two genes (ADAM10 and CAMK2A) have been reported to be associated with Alzheimer' s disease, bipolar disorder and depression.", "output": {"entities": {"gene": [{"text": "CAMK2A", "start": 38, "end": 44}], "disease": [{"text": "bipolar disorder", "start": 109, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAMK2A", "start": 38, "end": 44}, "tail": {"text": "bipolar disorder", "start": 109, "end": 125}}]}}, "schema": []}
{"input": "RhoE was knocked down to explore the role of RhoE on sensitivity of chemotherapy in gastric cancer by MTT.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 0, "end": 4}], "disease": [{"text": "gastric cancer", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms.", "output": {"entities": {"gene": [{"text": "LTBP4", "start": 10, "end": 15}], "disease": [{"text": "aneurysms", "start": 142, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We searched for mutations in HNF1Β and PAX2 in North American children with renal aplasia and hypodysplasia (RHD) enrolled in the Chronic Kidney Disease in Children Cohort Study (CKiD).", "output": {"entities": {"gene": [{"text": "CKiD", "start": 179, "end": 183}], "disease": [{"text": "renal aplasia", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We conducted Kaplan-Meier analyses to determine if the GST polymorphisms were related to progression-free survival (PFS) and performed logistic regression to explore associations between GST polymorphisms and occurrence of grade 3 or greater (> or = Gr 3) myelosuppression, ototoxicity, nephrotoxicity, neurotoxicity, and intellectual impairment.", "output": {"entities": {"gene": [{"text": "GST", "start": 55, "end": 58}], "disease": [{"text": "ototoxicity", "start": 274, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.", "output": {"entities": {"gene": [{"text": "LOXL1", "start": 28, "end": 33}], "disease": [{"text": "bladder cancer", "start": 61, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL1", "start": 28, "end": 33}, "tail": {"text": "bladder cancer", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and-2).", "output": {"entities": {"gene": [{"text": "JNK", "start": 200, "end": 203}], "disease": [{"text": "hypertrophy", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.", "output": {"entities": {"gene": [{"text": "XPG", "start": 6, "end": 9}], "disease": [{"text": "ERCC5", "start": 11, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XPG", "start": 6, "end": 9}, "tail": {"text": "ERCC5", "start": 11, "end": 16}}]}}, "schema": []}
{"input": "AIP germline mutations show a low, but non-negligible, prevalence in non-familial acromegaly patients with tumors resistant to treatment with somatostatin analogues.", "output": {"entities": {"gene": [{"text": "AIP", "start": 0, "end": 3}], "disease": [{"text": "acromegaly", "start": 82, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIP", "start": 0, "end": 3}, "tail": {"text": "acromegaly", "start": 82, "end": 92}}]}}, "schema": []}
{"input": "However, CHK expression was not detected in brain endothelial cells, transformed neuroblastoma or astrocytoma cell lines, nor in primary human neuroblastoma and glioblastoma tumors (10 cases), indicating that loss of CHK expression is associated with human brain tumors.", "output": {"entities": {"gene": [{"text": "CHK", "start": 9, "end": 12}], "disease": [{"text": "astrocytoma", "start": 98, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In our study, clinicopathological features together with p53 gene mutations were analyzed in 218 patients with RCC: 22 received dialysis followed by renal transplantation, 39 received dialysis alone, and 157 sporadic RCC.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 57, "end": 65}], "disease": [{"text": "sporadic", "start": 208, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "This study presents a time course analysis of the messenger RNA (mRNA) levels of c-fos, vasopressin (VP), and oxytocin (OT) in the paraventricular (PVN) and supraoptic nucleus (SON), following acute and chronic dehydration by water deprivation.", "output": {"entities": {"gene": [{"text": "SON", "start": 177, "end": 180}], "disease": [{"text": "dehydration", "start": 211, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "In contrast, HS-induced mucosal inflammation and apoptotic cell death in the duodenum, jejunum, and colon were far less than those observed in ileum as judged by the levels of expression of TNF-alpha, iNOS, activated caspase 3, and Bcl-2.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 232, "end": 237}], "disease": [{"text": "mucosal inflammation", "start": 24, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Histopathological examination of hippocampal CA1 neurons was done 7 days after ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 45, "end": 48}], "disease": [{"text": "ischemia", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.", "output": {"entities": {"gene": [{"text": "glucose-6-phosphate dehydrogenase gene", "start": 44, "end": 82}], "disease": [{"text": "asymptomatic", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In SLE, mild patients were associated with B13 (RR = 3. 7) and severe patients with B17.", "output": {"entities": {"gene": [{"text": "B17", "start": 84, "end": 87}], "disease": [{"text": "mild", "start": 8, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by beta-galactosidase deficiency attributable to mutations in the GLB1 gene.", "output": {"entities": {"gene": [{"text": "GLB1", "start": 146, "end": 150}], "disease": [{"text": "Morquio B disease", "start": 23, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLB1", "start": 146, "end": 150}, "tail": {"text": "Morquio B disease", "start": 23, "end": 40}}]}}, "schema": []}
{"input": "In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.", "output": {"entities": {"gene": [{"text": "GPR150", "start": 36, "end": 42}], "disease": [{"text": "ovarian cancers", "start": 11, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR150", "start": 36, "end": 42}, "tail": {"text": "ovarian cancers", "start": 11, "end": 26}}]}}, "schema": []}
{"input": "Because androgens have powerful effects on bone growth and metabolism, we determined whether a single base pair (bp) substitution (T--> C) in the promoter region (-34 bp) of CYP17 is associated with sex hormone levels, stature, and femoral mass and size in 333 white men aged 51-84 years (mean +/-SD; 66 +/-7 years).", "output": {"entities": {"gene": [{"text": "CYP17", "start": 174, "end": 179}], "disease": [{"text": "stature", "start": 219, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "In mice, DNA damage initiated by chemotherapeutic drug cyclophosphamide activated caspase 1 through the formation of the NLRP3 complex resulting in detrusor hyperplasia.", "output": {"entities": {"gene": [{"text": "NLRP3", "start": 121, "end": 126}], "disease": [{"text": "hyperplasia", "start": 157, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "In a previous TP53 analysis carried out on sporadic and NF1-related malignant peripheral nerve sheath tumors, in two cases, we observed the occurrence of C238Y missense mutation, leading to p53 stabilization unexpectedly coupled with immunophenotypic MDM2 overexpression.", "output": {"entities": {"gene": [{"text": "p53", "start": 190, "end": 193}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we report the identification of a novel disease-causing mutation in the ASAH1 gene that results in Farber disease in an Indian family.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 94, "end": 99}], "disease": [{"text": "Farber disease", "start": 121, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASAH1", "start": 94, "end": 99}, "tail": {"text": "Farber disease", "start": 121, "end": 135}}]}}, "schema": []}
{"input": "Angiotensin II-induced hypertension altered vascular glutathione flux by increasing GSSG export and decreasing vascular levels of glutathione in wild-type (FVB) but not in MRP1-/-mice.", "output": {"entities": {"gene": [{"text": "MRP1", "start": 172, "end": 176}], "disease": [{"text": "hypertension", "start": 23, "end": 35}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MRP1", "start": 172, "end": 176}, "tail": {"text": "hypertension", "start": 23, "end": 35}}]}}, "schema": []}
{"input": "The results revealed that tissue and serum miR-21 was upregulated significantly in the groups of cirrhosis, early and advanced HCC compared with normal and fibrosis groups.", "output": {"entities": {"gene": [{"text": "HCC", "start": 127, "end": 130}], "disease": [{"text": "fibrosis", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Pregabalin and gabapentin reduce release of substance P and CGRP from rat spinal tissues only after inflammation or activation of protein kinase C.", "output": {"entities": {"gene": [{"text": "substance P", "start": 44, "end": 55}], "disease": [{"text": "inflammation", "start": 100, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance P", "start": 44, "end": 55}, "tail": {"text": "inflammation", "start": 100, "end": 112}}]}}, "schema": []}
{"input": "In 68 patients with different leukemias the expression of the following adhesion molecules was examined: CD11a, CD18, CD54, CD44, CD58, and CD59.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 105, "end": 110}], "disease": [{"text": "adhesion", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the aberrant REST-mediated transcriptional regulation of, at least, CRH, adenylate cyclase 5, and tumor necrosis factor superfamily, member 12-13, might be state-dependent and associated with the pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "adenylate cyclase 5", "start": 98, "end": 117}], "disease": [{"text": "major depression", "start": 240, "end": 256}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "adenylate cyclase 5", "start": 98, "end": 117}, "tail": {"text": "major depression", "start": 240, "end": 256}}]}}, "schema": []}
{"input": "Selective impairment of p53-mediated cell death in fibroblasts from sporadic Alzheimer' s disease patients.", "output": {"entities": {"gene": [{"text": "p53", "start": 24, "end": 27}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-1 receptor-associated kinase (IRAK)-4 deficiency is a rare primary immunodeficiency disorder characterized by severe, invasive infections with Streptococcus pneumoniae.", "output": {"entities": {"gene": [{"text": "IRAK", "start": 42, "end": 46}], "disease": [{"text": "infections", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation in SIRT1 has been associated with body mass index (BMI) and risk of obesity.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 21, "end": 26}], "disease": [{"text": "body mass index", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Our results, indicating that missense mutations of BRCA1 and BRCA2 tend to predominate over frameshifts or nonsense mutations in Japanese breast cancer families, will contribute significantly to an understanding of mammary tumorigenesis in Japan, and will be of vital importance for future genetic testing.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 61, "end": 66}], "disease": [{"text": "breast cancer", "start": 138, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 61, "end": 66}, "tail": {"text": "breast cancer", "start": 138, "end": 151}}]}}, "schema": []}
{"input": "The reduction in beta2 mRNA expression alone, or in both alpha4 and beta2 mRNA expressions, suggests a reduction in functional nAChRs in the putamen, which may in part explain the susceptibility to hypokinetic disorders of the elderly and subjects with ischemic damage in the striatum.", "output": {"entities": {"gene": [{"text": "beta2", "start": 17, "end": 22}], "disease": [{"text": "hypokinetic", "start": 198, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Intracellular HSP70-expression is induced by a wide variety of stimuli including heat, fever, hypoxia, oxygen radicals, endotoxins, cytokines, and heavy metal ions.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 14, "end": 19}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 67, "end": 71}], "disease": [{"text": "Nodular fasciitis", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 67, "end": 71}, "tail": {"text": "Nodular fasciitis", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "]), adding simple clinical measurements that included metabolic syndrome traits (simple clinical model), and, finally, assessing complex clinical models that included (1) 2-hour post-oral glucose tolerance test glucose, fasting insulin, and C-reactive protein levels; (2) the Gutt insulin sensitivity index; or (3) the homeostasis model insulin resistance and the homeostasis model insulin resistance beta-cell sensitivity indexes.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 241, "end": 259}], "disease": [{"text": "insulin resistance", "start": 337, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region.", "output": {"entities": {"gene": [{"text": "cx32", "start": 82, "end": 86}], "disease": [{"text": "CMTX1", "start": 5, "end": 10}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cx32", "start": 82, "end": 86}, "tail": {"text": "CMTX1", "start": 5, "end": 10}}]}}, "schema": []}
{"input": "Our data strongly suggest that increased PI3K/AKT-mediated metastatic invasiveness in CaP is associated with FOXO4 loss, and that mechanisms to induce FOXO4 re-expression might suppress CaP metastatic aggressiveness.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 41, "end": 45}], "disease": [{"text": "aggressiveness", "start": 201, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "In contrast, intrathecal substance P 100 nmol produced hyperalgesia, and intrathecal DAMGO 10 nmol produced antinociception.", "output": {"entities": {"gene": [{"text": "substance P", "start": 25, "end": 36}], "disease": [{"text": "hyperalgesia", "start": 55, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance P", "start": 25, "end": 36}, "tail": {"text": "hyperalgesia", "start": 55, "end": 67}}]}}, "schema": []}
{"input": "For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.", "output": {"entities": {"gene": [{"text": "Atg-7", "start": 80, "end": 85}], "disease": [{"text": "ovarian cancer", "start": 131, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Atg-7", "start": 80, "end": 85}, "tail": {"text": "ovarian cancer", "start": 131, "end": 145}}]}}, "schema": []}
{"input": "The course of AA in the B19 infection group was less than 2 mo and the serious aplastic anemia (SAA) and very serious aplastic anemia (VSAA) were more frequently observed in this group than the controls (P < 0. 05).", "output": {"entities": {"gene": [{"text": "SAA", "start": 96, "end": 99}], "disease": [{"text": "aplastic anemia", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Eighty colorectal cancers with high-grade tumor budding were studied, including nine sporadic colorectal cancers with immunohistochemical loss of expression of MLH1 (MLH1 (-)), seven colorectal cancers from patients with hereditary nonpolyposis colorectal cancer, and 64 sporadic colorectal cancers expressing both MLH1 and MSH2 (MLH1 (+)).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 324, "end": 328}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs.", "output": {"entities": {"gene": [{"text": "caspase-2", "start": 37, "end": 46}], "disease": [{"text": "RCC", "start": 96, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase-2", "start": 37, "end": 46}, "tail": {"text": "RCC", "start": 96, "end": 99}}]}}, "schema": []}
{"input": "Chfr and hMLH1 hypermethylation, which may lead to chromosomal instability (CIN) and microsatellite instability (MSI), respectively, was analyzed in gastric noninvasive neoplasias (NIN, Padova international classification) and submucosal invasive adenocarcinomas and in their corresponding non-neoplastic gastric epithelia.", "output": {"entities": {"gene": [{"text": "Chfr", "start": 0, "end": 4}], "disease": [{"text": "non-neoplastic", "start": 290, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "Stratifying POSH cases by tumour characteristics identified SNPs in FGFR2 and TOX3 associated with ER-positive disease and SNPs in ATM associated with ER-negative disease.", "output": {"entities": {"gene": [{"text": "POSH", "start": 12, "end": 16}], "disease": [{"text": "tumour", "start": 26, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Our study confirms the recent observations that SURF1 is consistently involved in disorders of the mitochondrial respiratory chain in patients with typical Leigh syndrome.", "output": {"entities": {"gene": [{"text": "SURF1", "start": 48, "end": 53}], "disease": [{"text": "Leigh syndrome", "start": 156, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SURF1", "start": 48, "end": 53}, "tail": {"text": "Leigh syndrome", "start": 156, "end": 170}}]}}, "schema": []}
{"input": "A significant difference in insulin resistance between obese and non-obese adolescents was observed in all studied indices (mean values of the insulin levels: 24. 9 vs. 9. 71 mIU/L in T0, 128 vs. 54. 7 mIU/L in T60 and 98. 7 vs. 41. 1 mIU/L in T120 respectively; AUC: 217 vs. 77. 2 ng/ml * h, mean values of B% (state beta cell function), S% (insulin sensitivity), and IR were 255 (± 97) vs. 135 (± 37. 8), 46. 6 (± 37. 3) vs. 84. 2 (± 29. 6) and 3 (± 1. 55) vs. 1. 36 (± 0, 56); HIS, WBIS and ISIBel median 3. 89, 44. 7, 0. 73 vs. 8. 57, 110, 2. 25.", "output": {"entities": {"gene": [{"text": "HIS", "start": 480, "end": 483}], "disease": [{"text": "insulin resistance", "start": 28, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Expression of two major hypoxia-induced proteins, the hypoxia-inducible factor-1α (HIF1A) and the carbonic anhydrase IX (CA9), examined within a large cohort including 61 familial (3 BRCA1, 28 BRCA2, 30 BRCAX) and 225 sporadic male breast cancers showed that 31% of all male breast cancers expressed either HIF1A (25%) and/or CA9 (8%) in the combined cohort.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 193, "end": 198}], "disease": [{"text": "sporadic", "start": 218, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, α-mangostin, which is a xanthone derivative, canceled the resistance by increasing the expression level of DR5 through down-regulation of miR-133b and effectively induced the translocation of DR5 to the cancer cell surface membrane in TRAIL-resistant DLD-1 cells.", "output": {"entities": {"gene": [{"text": "DR5", "start": 122, "end": 125}], "disease": [{"text": "translocation", "start": 190, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial DNA (mtDNA) mutations associated with rhabdomyolysis are rare but have been described in sporadic cases with mutations in the cytochrome b and cytochrome c oxidase (COX) genes and in 3 cases with tRNALeu mutation.", "output": {"entities": {"gene": [{"text": "COX", "start": 179, "end": 182}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Fifty-seven Dukes C colorectal cancer patients were given 5-fluorouracil-interferon-alpha 2b adjuvant treatment from October 1986 to September 1990.", "output": {"entities": {"gene": [{"text": "interferon-alpha 2b", "start": 73, "end": 92}], "disease": [{"text": "colorectal cancer", "start": 20, "end": 37}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interferon-alpha 2b", "start": 73, "end": 92}, "tail": {"text": "colorectal cancer", "start": 20, "end": 37}}]}}, "schema": []}
{"input": "Sod2 reduction decreased amyloid plaques in the brain parenchyma but promoted the development of cerebrovascular amyloidosis, gliosis, and plaque-independent neuritic dystrophy.", "output": {"entities": {"gene": [{"text": "Sod2", "start": 0, "end": 4}], "disease": [{"text": "gliosis", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Interleukin 4 mRNA was not expressed in the nonatopic subjects but was expressed in 9 asymptomatic patients and in 17 symptomatic patients.", "output": {"entities": {"gene": [{"text": "Interleukin 4", "start": 0, "end": 13}], "disease": [{"text": "asymptomatic", "start": 86, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.", "output": {"entities": {"gene": [{"text": "MTHFD1", "start": 201, "end": 207}], "disease": [{"text": "endometriosis", "start": 419, "end": 432}]}, "relations": {}}, "schema": []}
{"input": "Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer' s disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 246, "end": 250}], "disease": [{"text": "glucose intolerance", "start": 43, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "TAZ knockdown in MCF7 cells also retards anchorage-independent growth in soft agar and tumorigenesis in nude mice.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 0, "end": 3}], "disease": [{"text": "tumorigenesis", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Tumor hypoxia enhanced the expression of CTGF, which initiates the invasive angiogenesis cascade and enhances expression of many hypoxia-associated genes.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 41, "end": 45}], "disease": [{"text": "hypoxia", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Despite the technological advantage of fluorescence in-situ hybridization on tissue microarray, which allows refining regions of amplification, we were not able to recognize any of the MYBL2, ZNF217, CYP24 and STK6 genes as a particular relevant gene for melanoma tumorigenesis.", "output": {"entities": {"gene": [{"text": "STK6", "start": 210, "end": 214}], "disease": [{"text": "tumorigenesis", "start": 264, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 152, "end": 155}], "disease": [{"text": "Dejerine-Sottas neuropathy", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPZ", "start": 152, "end": 155}, "tail": {"text": "Dejerine-Sottas neuropathy", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "In the second case, 830 μg/kg body weight LPS was given 24 h prior to either IGF-I or GPE.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 77, "end": 82}], "disease": [{"text": "body weight", "start": 30, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "A growing body of evidence suggests that ANP might be involved in the symptomology of alcohol dependence.", "output": {"entities": {"gene": [{"text": "ANP", "start": 41, "end": 44}], "disease": [{"text": "alcohol dependence", "start": 86, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Human TIMP1 or TIMP2 has been introduced in pancreatic tumor cells under the control of a constitutive promoter using adenoviral vectors, and the effect on tumor invasion observed.", "output": {"entities": {"gene": [{"text": "TIMP2", "start": 15, "end": 20}], "disease": [{"text": "pancreatic tumor", "start": 44, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "This suggests that in contrast to hereditary disease, BRCA1 and BRCA2 are not commonly involved in sporadic ovarian cancer and may indicate that there are two distinct pathways for the development of ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 64, "end": 69}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We describe 3 such cases in which we employed fluorescence in-situ hybridization analysis to detect translocation involving the EWS gene and reverse transcription polymerase chain reaction followed by sequencing to detect the fusion transcript EWS-FLI1.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 128, "end": 136}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "One hundred and eighty-four chronic hepatitis B patients and 205 asymptomatic HBV carriers were recruited to make the comparison of frequencies of genotype and haplotype of the VDR gene between the patients and the carriers.", "output": {"entities": {"gene": [{"text": "VDR gene", "start": 177, "end": 185}], "disease": [{"text": "asymptomatic", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "FST-gene transfection did not affect the cell proliferation, motility, invasion, or adhesion to endothelial cells in vitro.", "output": {"entities": {"gene": [{"text": "FST", "start": 0, "end": 3}], "disease": [{"text": "adhesion", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, ESAM inactivation can reduce susceptibility to atherosclerosis by inhibiting plaque neovascularization and macrophage infiltration into the atheroma.", "output": {"entities": {"gene": [{"text": "ESAM", "start": 15, "end": 19}], "disease": [{"text": "atheroma", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Cdk2 is required for breast cancer mediated by the low-molecular-weight isoform of cyclin E.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 83, "end": 91}], "disease": [{"text": "weight", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "ERCC1 and XPF expression in human testicular germ cell tumors.", "output": {"entities": {"gene": [{"text": "XPF", "start": 10, "end": 13}], "disease": [{"text": "germ cell tumors", "start": 45, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XPF", "start": 10, "end": 13}, "tail": {"text": "germ cell tumors", "start": 45, "end": 61}}]}}, "schema": []}
{"input": "Indeed, ELISA revealed that the CTGF protein/cell in medium conditioned by MDA231 cells exposed to hypoxia was maximally greater at 24 h than in the medium from normoxic cultures and that the secretion rate (supernatant CTGF/cell layer CTGF) increased in a time-dependent manner from 24 to 72 h of hypoxic exposure.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 32, "end": 36}], "disease": [{"text": "hypoxic", "start": 298, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "In PCOS patients, variables of body composition (body mass index (BMI), waist to hip ratio, dual-energy X-ray-absorptiometry fat mass) and of insulin resistance were correlated with IL-6 or CRP, while parameters of hyperandogenism were not.", "output": {"entities": {"gene": [{"text": "CRP", "start": 190, "end": 193}], "disease": [{"text": "insulin resistance", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The prototypic long PTX3 is a multifunctional protein involved in innate resistance to pathogens and in controlling inflammation.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 20, "end": 24}], "disease": [{"text": "inflammation", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "15-Methyl-LXA4 treatment significantly reduced the proteinuria, glomerular infiltration of leukocyte, expressions of IL-1beta and IL-6 protein and mRNA, score of mesangial proliferation, glomerular PCNA positive cells, activities of phosphorylated PI3-K, Akt1, NF-kappaB and STAT3, and increased the p27 (kip1) expression.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 261, "end": 270}], "disease": [{"text": "proteinuria", "start": 51, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have determined the effect of ribozymes specific for LIM kinase-2 on metastatic and proliferative phenotypes of human fibrosarcoma cells.", "output": {"entities": {"gene": [{"text": "LIM kinase", "start": 71, "end": 81}], "disease": [{"text": "fibrosarcoma", "start": 136, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 312, "end": 316}], "disease": [{"text": "gastric cancer", "start": 325, "end": 339}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-8", "start": 312, "end": 316}, "tail": {"text": "gastric cancer", "start": 325, "end": 339}}]}}, "schema": []}
{"input": "OCT imaging in a 6-year-old asymptomatic patient carrying this mutation did not demonstrate retinal lesions.", "output": {"entities": {"gene": [{"text": "OCT", "start": 0, "end": 3}], "disease": [{"text": "asymptomatic", "start": 28, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Induction of Ras by SAF-1/MAZ through a feed-forward loop promotes angiogenesis in breast cancer.", "output": {"entities": {"gene": [{"text": "SAF", "start": 20, "end": 23}], "disease": [{"text": "breast cancer", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm.", "output": {"entities": {"gene": [{"text": "matrix metallopeptidase 1", "start": 17, "end": 42}], "disease": [{"text": "thoracic aortic aneurysm", "start": 87, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Differential expression of cytokine transcripts in human epithelial ovarian carcinoma by solid tumour specimens, peritoneal exudate cells containing tumour, tumour-infiltrating lymphocyte (TIL)-derived T cell lines and established tumour cell lines.", "output": {"entities": {"gene": [{"text": "TIL", "start": 189, "end": 192}], "disease": [{"text": "epithelial ovarian carcinoma", "start": 57, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The association: myelodysplastic syndrome, eosinophilia and translocation t (5; 12) (q31-33; p12-13), seems to be a specific hematologic disorder.", "output": {"entities": {"gene": [{"text": "p12", "start": 93, "end": 96}], "disease": [{"text": "hematologic disorder", "start": 125, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "AA diplotype of ADORA2A is associated with AESD and may alter the intracellular adenosine/cAMP cascade, thereby promoting seizures and excitotoxic brain damage in patients.", "output": {"entities": {"gene": [{"text": "ADORA2A", "start": 16, "end": 23}], "disease": [{"text": "AESD", "start": 43, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ADORA2A", "start": 16, "end": 23}, "tail": {"text": "AESD", "start": 43, "end": 47}}]}}, "schema": []}
{"input": "Furthermore, stabilization of HIF-1α protein, caused either by VHL deficiency under normoxia, or by hypoxia, significantly reduced Prx3 expression.", "output": {"entities": {"gene": [{"text": "Prx3", "start": 131, "end": 135}], "disease": [{"text": "hypoxia", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In brain tumor tissue, ADAM8 and ADAM19 undergo activation by prodomain removal resulting in active proteases.", "output": {"entities": {"gene": [{"text": "ADAM19", "start": 33, "end": 39}], "disease": [{"text": "brain tumor", "start": 3, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the frequency of clonal abnormalities in patients with unexplained persisting eosinophilia we analyzed 40 patients (27 males, 13 females) using cytomorphology, cytogenetic analysis, interphase fluorescence in situ hybridization (FISH), and reverse transcriptase polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "FISH", "start": 241, "end": 245}], "disease": [{"text": "eosinophilia", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Manipulation of pulmonary prostacyclin synthase expression prevents murine lung cancer.", "output": {"entities": {"gene": [{"text": "prostacyclin synthase", "start": 26, "end": 47}], "disease": [{"text": "lung cancer", "start": 75, "end": 86}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "prostacyclin synthase", "start": 26, "end": 47}, "tail": {"text": "lung cancer", "start": 75, "end": 86}}]}}, "schema": []}
{"input": "These data suggest implication of DSCAM in the adult neurogenesis of primate hippocampus upregulated after ischemia.", "output": {"entities": {"gene": [{"text": "DSCAM", "start": 34, "end": 39}], "disease": [{"text": "ischemia", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "As seen in HI epidermis, proteins that are normally expressed in late differentiation were highly dysregulated in the ABCA12-ablated OTCC system.", "output": {"entities": {"gene": [{"text": "ABCA12", "start": 118, "end": 124}], "disease": [{"text": "HI", "start": 11, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA12", "start": 118, "end": 124}, "tail": {"text": "HI", "start": 11, "end": 13}}]}}, "schema": []}
{"input": "This triggers aneuploidy and cell death that correlates with, but can occur in the absence of, Epstein-Barr virus (EBV) reactivation, caspase activation, and/or expression of the BH3-only protein Puma.", "output": {"entities": {"gene": [{"text": "BH3-only protein", "start": 179, "end": 195}], "disease": [{"text": "aneuploidy", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In addition, we generated U251 glioma cells that stably express an inducible knockdown shRNA to experimentally eliminate KCa3. 1 expression.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 121, "end": 128}], "disease": [{"text": "glioma", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 31, "end": 35}], "disease": [{"text": "Greig cephalopolysyndactyly syndrome", "start": 47, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLI3", "start": 31, "end": 35}, "tail": {"text": "Greig cephalopolysyndactyly syndrome", "start": 47, "end": 83}}]}}, "schema": []}
{"input": "Based on this particular observation, we decided to evaluate whether the TP53 Arg72Pro polymorphism (rs1042522) (C215G) was implicated in the etiopathology of sporadic amyotrophic lateral sclerosis (SALS).", "output": {"entities": {"gene": [{"text": "TP53", "start": 73, "end": 77}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In human mammary tumor T47D cells that contain both progesterone and epidermal growth factor (EGF) receptors, the progestin-induced transactivation at various hormone regulated promoters is enhanced by EGF.", "output": {"entities": {"gene": [{"text": "EGF", "start": 94, "end": 97}], "disease": [{"text": "mammary tumor", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "One patient with severe type 5 hyperlipoproteinemia (MIM 144650), fasting chylomicronemia and relapsing pancreatitis resistant to standard therapy was found to be homozygous for a novel GPIHBP1 missense variant, namely G56R.", "output": {"entities": {"gene": [{"text": "MIM", "start": 53, "end": 56}], "disease": [{"text": "pancreatitis", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The Ewing' s sarcoma family of tumors (ESFT) contain a translocation, t (11; 22), which results in the novel oncogenic fusion protein EWS/FLI1.", "output": {"entities": {"gene": [{"text": "EWS", "start": 134, "end": 137}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We conducted a gene search in a family we previously reported with a severe, lethal epileptic encephalopathy mapping at 16pter-p13. 3.", "output": {"entities": {"gene": [{"text": "p13", "start": 127, "end": 130}], "disease": [{"text": "epileptic encephalopathy", "start": 84, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5; 13 translocation.", "output": {"entities": {"gene": [{"text": "ERBB2IP", "start": 14, "end": 21}], "disease": [{"text": "translocation", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Decreased spinophilin but unchanged MAP2 expression provides molecular evidence for a hippocampal dendritic pathology in schizophrenia that preferentially affects the spines.", "output": {"entities": {"gene": [{"text": "spinophilin", "start": 10, "end": 21}], "disease": [{"text": "schizophrenia", "start": 121, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "spinophilin", "start": 10, "end": 21}, "tail": {"text": "schizophrenia", "start": 121, "end": 134}}]}}, "schema": []}
{"input": "The correlation between residual DSBs and the severity of acute reactions demonstrated that residual γ-H2AX foci in head-and-neck cancer patients increased with the severity of oral mucositis and skin reaction.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 103, "end": 107}], "disease": [{"text": "neck cancer", "start": 125, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? Evidence from DISC1, GRIK4 and NRG1.", "output": {"entities": {"gene": [{"text": "NRG1", "start": 119, "end": 123}], "disease": [{"text": "depression", "start": 76, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRG1", "start": 119, "end": 123}, "tail": {"text": "depression", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "Our data suggest that suppression of ERGIC3 could provide a framework for the development of effective lung cancer therapies.", "output": {"entities": {"gene": [{"text": "ERGIC3", "start": 37, "end": 43}], "disease": [{"text": "lung cancer", "start": 103, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERGIC3", "start": 37, "end": 43}, "tail": {"text": "lung cancer", "start": 103, "end": 114}}]}}, "schema": []}
{"input": "Task2 activation by reactive oxygen species generated during hypoxia could silence RTN neurons, thus contributing to respiratory depression.", "output": {"entities": {"gene": [{"text": "Task2", "start": 0, "end": 5}], "disease": [{"text": "hypoxia", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Together, these results indicate that the relationship among DBP, tPA and ageing play an important role in the outcome of cerebral ischaemia.", "output": {"entities": {"gene": [{"text": "DBP", "start": 61, "end": 64}], "disease": [{"text": "ageing", "start": 74, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Because most brain metastases occur after the development of systemic disease, these findings prompt consideration of brain prophylaxis strategies with HER-2-inhibiting small molecules able to cross the blood-brain barrier and/or radiologic screening to detect asymptomatic brain metastases.", "output": {"entities": {"gene": [{"text": "HER-2", "start": 152, "end": 157}], "disease": [{"text": "asymptomatic", "start": 261, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "], as well as Th17 (that produce IL-17), and T suppressor lymphocytes including regulatory T cells (Treg), which express the transcription factor forkhead box P3 (Foxp3), play critical roles in the development of angiotensin II, deoxycorticosterone salt-sensitive and Dahl salt-sensitive hypertension, and in the progression of vascular remodeling.", "output": {"entities": {"gene": [{"text": "Foxp3", "start": 163, "end": 168}], "disease": [{"text": "vascular remodeling", "start": 328, "end": 347}]}, "relations": {}}, "schema": []}
{"input": "In sum, the association between XRCC1 and HNSCC risk differed by HPV16 status and smoking.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 32, "end": 37}], "disease": [{"text": "smoking", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We recently reported that rhabdomyosarcoma cell lines express and secrete interleukin 15 (IL-15), a tightly regulated cytokine with IL-2-like activity.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 132, "end": 136}], "disease": [{"text": "rhabdomyosarcoma", "start": 26, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle' s disease.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 33, "end": 49}], "disease": [{"text": "McArdle' s disease", "start": 81, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 33, "end": 49}, "tail": {"text": "McArdle' s disease", "start": 81, "end": 99}}]}}, "schema": []}
{"input": "For example, tumors of the Ewing' s sarcoma family have in common a characteristic t (11; 22) chromosomal translocation, the Ewing' s sarcoma (EWS) (22q12) gene rearrangement, and the MIC2 gene.", "output": {"entities": {"gene": [{"text": "EWS", "start": 143, "end": 146}], "disease": [{"text": "chromosomal translocation", "start": 94, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The levels of adhesion molecules (intercellular cell adhesion molecule-1 [ICAM-1], E-selectin, P-selectin), von Willebrand factor (vWf) and endothelin-1 were measured in patients with hypertension without any other risk factors of atherosclerosis before and after treatment with quinapril (n = 22) and in normotensive controls (n = 22).", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 108, "end": 129}], "disease": [{"text": "hypertension", "start": 184, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "von Willebrand factor", "start": 108, "end": 129}, "tail": {"text": "hypertension", "start": 184, "end": 196}}]}}, "schema": []}
{"input": "Furthermore, the inactivation of the p16 gene by these carcinogenic exposures supports a possible role for oxidative stress and inflammation in the etiology of human lung cancer.", "output": {"entities": {"gene": [{"text": "p16 gene", "start": 37, "end": 45}], "disease": [{"text": "inflammation", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that urinary mRNA levels of IL-10 and IL-22 might be used as biomarkers for assessing disease activity and risk stratification in lupus nephritis.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 60, "end": 65}], "disease": [{"text": "lupus nephritis", "start": 152, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "One such a paradigm exists in the developing nervous system, where neuronal migration and axonal path finding is balanced by chemoattractive and chemorepulsive cues, such as the neuronal repulsive guidance molecule-A (RGM-A).", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 67, "end": 85}], "disease": [{"text": "nervous system", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In this study a significantly higher level of TNF-alpha and its soluble receptors, TNF-R1 and TNF-R2, has been found in plasma of patients affected by the sporadic form of ALS compared to normal subjects.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 46, "end": 55}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "YB-1 knockdown by siRNA upregulated 344 genes, including MDR1, thymidylate synthetase, S100 calcium binding protein and cyclin B, and downregulated 534 genes, including CXCR4, N-myc downstream regulated gene 1, E-cadherin and phospholipase C. Exogenous serum addition stimulated YB-1 translocation from the cytoplasm to the nucleus, and treatment with Akt inhibitors as well as Akt siRNA and integrin-linked kinase (ILK) siRNA specifically blocked YB-1 nuclear localization.", "output": {"entities": {"gene": [{"text": "calcium binding protein", "start": 92, "end": 115}], "disease": [{"text": "translocation", "start": 284, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the miR-137 which is frequently down-regulated in gastric cancer is potentially involved in gastric cancer tumorigenesis and metastasis by regulating AKT2 related signal pathways.", "output": {"entities": {"gene": [{"text": "miR-137", "start": 19, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In contrast, Men1 (+/-); Cdk2 (-/-) mice showed pituitary and islet tumorigenesis comparable to those in Men1 (+/-) mice.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C--> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C--> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G--> A in the paraoxonase 1 (PON1) gene and 2445G--> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.", "output": {"entities": {"gene": [{"text": "p22", "start": 257, "end": 260}], "disease": [{"text": "smoking", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "However, the mechanism through which FOXC1 controls aggressiveness of basal-like breast cancer remains to be elucidated.", "output": {"entities": {"gene": [{"text": "FOXC1", "start": 37, "end": 42}], "disease": [{"text": "aggressiveness", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 31, "end": 36}], "disease": [{"text": "Charcot-Marie-Tooth disease and deafness", "start": 61, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 31, "end": 36}, "tail": {"text": "Charcot-Marie-Tooth disease and deafness", "start": 61, "end": 101}}]}}, "schema": []}
{"input": "TGF-beta isoforms and TGF-beta receptors in drug-induced and hereditary gingival overgrowth.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 0, "end": 8}], "disease": [{"text": "gingival overgrowth", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "IL-21 was increased in the gut of patients with UC-associated colon cancer, and in mice with CAC induced by azoxymethane (AOM) and dextran sulfate sodium (DSS).", "output": {"entities": {"gene": [{"text": "CAC", "start": 93, "end": 96}], "disease": [{"text": "colon cancer", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that AA-NAT could be a susceptibility gene for DSPS.", "output": {"entities": {"gene": [{"text": "AA-NAT", "start": 22, "end": 28}], "disease": [{"text": "DSPS", "start": 64, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AA-NAT", "start": 22, "end": 28}, "tail": {"text": "DSPS", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "Here, we report monoallelic frameshift or missense mutations and one 3' UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1, 712 controls (P = 4. 1 x 10 (-7)).", "output": {"entities": {"gene": [{"text": "TREX1", "start": 87, "end": 92}], "disease": [{"text": "systemic lupus erythematosus", "start": 127, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TREX1", "start": 87, "end": 92}, "tail": {"text": "systemic lupus erythematosus", "start": 127, "end": 155}}]}}, "schema": []}
{"input": "Basal RBP4 levels or diet-induced variations of RBP4 were not different in lean women and two groups of obese women with high-and low-insulin sensitivity.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 6, "end": 10}], "disease": [{"text": "insulin sensitivity", "start": 134, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "EZH2-induced BRCA1 nuclear export, aneuploidy, and mitotic defects were prevented by treatment with the PI3K inhibitors LY294002 or wortmannin.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 13, "end": 18}], "disease": [{"text": "aneuploidy", "start": 35, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The activity of GUSB in the patient' s serum, leukocytes, and fibroblasts was severely decreased; the GUSB activity in the serum and leukocytes from the parents and 2 asymptomatic sibs was subnormal.", "output": {"entities": {"gene": [{"text": "GUSB", "start": 16, "end": 20}], "disease": [{"text": "asymptomatic", "start": 167, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Nup98-homeodomain fusions interact with endogenous Nup98 during interphase and localize to kinetochores and chromosome arms during mitosis.", "output": {"entities": {"gene": [{"text": "Nup98", "start": 0, "end": 5}], "disease": [{"text": "arms", "start": 119, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Estrogen Sulfotransferase Is an Oxidative Stress-responsive Gene That Gender-specifically Affects Liver Ischemia/Reperfusion Injury.", "output": {"entities": {"gene": [{"text": "Estrogen Sulfotransferase", "start": 0, "end": 25}], "disease": [{"text": "Ischemia/Reperfusion Injury", "start": 104, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Estrogen Sulfotransferase", "start": 0, "end": 25}, "tail": {"text": "Ischemia/Reperfusion Injury", "start": 104, "end": 131}}]}}, "schema": []}
{"input": "In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.", "output": {"entities": {"gene": [{"text": "GRACILE syndrome", "start": 217, "end": 233}], "disease": [{"text": "metabolic disorder", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Resveratrol has been an ascribed inhibitory effect on glucocorticoid-induced muscle atrophy in vitro, but the influence of resveratrol on the growth of C2C12 myotubes exposed to TNF-& #945; remains unclear.", "output": {"entities": {"gene": [{"text": "TNF", "start": 178, "end": 181}], "disease": [{"text": "muscle atrophy", "start": 77, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 178, "end": 181}, "tail": {"text": "muscle atrophy", "start": 77, "end": 91}}]}}, "schema": []}
{"input": "AEG-1 is up-regulated, at the mRNA and the protein level, during CRC development and aggressiveness, and is related to tumour location and stage.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 0, "end": 5}], "disease": [{"text": "aggressiveness", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Recently, other candidate genes, notably oestrogen receptor, collagen 1alphaI, and PTH receptor genes and a chromosome 11 locus, have been associated with bone density and fracture.", "output": {"entities": {"gene": [{"text": "PTH receptor", "start": 83, "end": 95}], "disease": [{"text": "bone density", "start": 155, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Molecular analyses show that loss of CDX2 predominantly altered the expression of genes involved in intestinal glandular differentiation and adhesion.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 37, "end": 41}], "disease": [{"text": "adhesion", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.", "output": {"entities": {"gene": [{"text": "GNS", "start": 91, "end": 94}], "disease": [{"text": "Sanfilippo syndrome type D", "start": 0, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNS", "start": 91, "end": 94}, "tail": {"text": "Sanfilippo syndrome type D", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "There was a strong negative correlation between inactivation of FoxO4 in RA synovial tissue and increased serum C-reactive protein levels and a raised erythrocyte sedimentation rate in RA patients.", "output": {"entities": {"gene": [{"text": "FoxO4", "start": 64, "end": 69}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 151, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our results suggest a model where combined genetic and environmental inhibition of PI3K/mTOR signaling leads to variability within FASD.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 97, "end": 101}], "disease": [{"text": "FASD", "start": 145, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PI3K", "start": 97, "end": 101}, "tail": {"text": "FASD", "start": 145, "end": 149}}]}}, "schema": []}
{"input": "Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 157, "end": 161}], "disease": [{"text": "autoimmune hypothyroidism", "start": 211, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that a dominant negative Cx43 mutant deficient in channel formation exhibits a dual pattern of regulation in metastatic melanoma cells with a decrease in anchorage-independent growth and an increase in invasive potential.", "output": {"entities": {"gene": [{"text": "Cx43", "start": 50, "end": 54}], "disease": [{"text": "metastatic melanoma", "start": 134, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We propose that the phenotype of our patient results from the combined effects of mutations in both ASPM and STS that account for the neurological signs and skin manifestations, respectively.", "output": {"entities": {"gene": [{"text": "ASPM", "start": 100, "end": 104}], "disease": [{"text": "skin manifestations", "start": 157, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In higher plants mutations and rearrangements in the mitochondrial DNA are believed to cause cytoplasmic male sterility (CMS), a mitochondrially inherited inability to produce viable pollen.", "output": {"entities": {"gene": [{"text": "CMS", "start": 121, "end": 124}], "disease": [{"text": "male sterility", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Thus, the TAAAAn polymorphism in SHBG gene was not a determinant of PCOS in this population of Chinese women, whereas, serum SHBG was significantly associated with BMI and insulin resistance in these PCOS patients.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 33, "end": 37}], "disease": [{"text": "insulin resistance", "start": 172, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The index case is a woman with a lifelong history of bleeding, found hyperresponsive to ristocetin with spontaneous platelet aggregation (SPA).", "output": {"entities": {"gene": [{"text": "SPA", "start": 138, "end": 141}], "disease": [{"text": "bleeding", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Polysomy or trisomy of EGFR was detected by FISH in 30% (14/46).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 23, "end": 27}], "disease": [{"text": "trisomy", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "These data further corroborate that the B19p6 promoter is erythroid cell-specific and suggest that the recombinant AAV-B19 hybrid vectors may prove useful in gene therapy of human hemoglobinopathies in general and sickle cell anemia and beta-thalassemia in particular.", "output": {"entities": {"gene": [{"text": "AAV", "start": 115, "end": 118}], "disease": [{"text": "sickle cell anemia", "start": 214, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "To investigate the possible association between ZNF230 gene and azoospermia.", "output": {"entities": {"gene": [{"text": "ZNF230 gene", "start": 48, "end": 59}], "disease": [{"text": "azoospermia", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In this study, we established that transgenic or virus vector-mediated complementation with HMGB1 ameliorates motor dysfunction and prolongs lifespan in mutant Atxn1 knock-in (Atxn1-KI) mice.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 92, "end": 97}], "disease": [{"text": "motor dysfunction", "start": 110, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The ERCC1 and ERCC2 genes are important in repairing DNA damage and genomic instability, and are involved in the nucleotide excision repair pathway.", "output": {"entities": {"gene": [{"text": "ERCC2", "start": 14, "end": 19}], "disease": [{"text": "genomic instability", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Lipofection-mediated gene transfers were performed with these 3 constructs and a control plasmid, pCDNA3, in 3 human prostate cancer cell lines (LNCaP, DU-145, PC-3) and 5 other cell lines (Cos-1 [monkey kidney], HL-60 [human myeloid leukemia], Hep G2 [human hepatoma], NCI H460 [human lung cancer] and SW 480 [human colon cancer]).", "output": {"entities": {"gene": [{"text": "PC-3", "start": 160, "end": 164}], "disease": [{"text": "hepatoma", "start": 259, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Transcription factor activity of estrogen receptor & #945; activation upon nonylphenol or bisphenol A treatment enhances the in vitro proliferation, invasion, and migration of neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 33, "end": 50}], "disease": [{"text": "neuroblastoma", "start": 176, "end": 189}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "estrogen receptor", "start": 33, "end": 50}, "tail": {"text": "neuroblastoma", "start": 176, "end": 189}}]}}, "schema": []}
{"input": "In particular, one peripheral T-cell lymphoma (not otherwise specified, NOS) with the morphological variant of Lennert lymphoma displayed a chromosomal translocation t (14; 19) involving the TCRalpha/delta and the BCL3 loci.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 214, "end": 218}], "disease": [{"text": "chromosomal translocation", "start": 140, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Molecular characterization of the PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 34, "end": 39}], "disease": [{"text": "Goltz syndrome", "start": 72, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PORCN", "start": 34, "end": 39}, "tail": {"text": "Goltz syndrome", "start": 72, "end": 86}}]}}, "schema": []}
{"input": "In mutation (+) patients PGLs malignancy varied with location, adrenal (6. 4%) thoraco-abdominal E-PGL (38%), H & N E-PGL (10%).", "output": {"entities": {"gene": [{"text": "PGLs", "start": 25, "end": 29}], "disease": [{"text": "malignancy", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The CYP1A1 * 2A polymorphism was found to have significant association with chronic obstructive pneumonopathy (p = 0. 045), peripheral circulatory problems (trend p = 0. 042), arteritis (p = 0. 022), allergies (trend p = 0. 046), hemorrhoids (trend p = 0. 026), allergic dermatitis (p = 0. 0016) and miscarriages (p = 0. 012).", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 4, "end": 10}], "disease": [{"text": "miscarriages", "start": 300, "end": 312}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A1", "start": 4, "end": 10}, "tail": {"text": "miscarriages", "start": 300, "end": 312}}]}}, "schema": []}
{"input": "Thus, suppression of KCNQ/M channels in primary DRG neurons plays a crucial role in the development of bone cancer pain.", "output": {"entities": {"gene": [{"text": "DRG", "start": 48, "end": 51}], "disease": [{"text": "bone cancer", "start": 103, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "VIT", "start": 670, "end": 673}], "disease": [{"text": "ulcerative colitis", "start": 680, "end": 698}]}, "relations": {}}, "schema": []}
{"input": "] on estrogen replacement therapy [ERT]), we assessed whether ERT-mediated thrombophilia and heritable thrombophilia (20210 G--> A prothrombin gene [PTG], Factor V Leiden gene mutation [FV]) interacted as risk factors for atherothrombotic cardiovascular disease (ATCVD).", "output": {"entities": {"gene": [{"text": "ERT", "start": 35, "end": 38}], "disease": [{"text": "cardiovascular disease", "start": 239, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "In the hippocampus of seizure mice, the expressions of Scn3a and Mbd2 were upregulated after 10-day KA treatment.", "output": {"entities": {"gene": [{"text": "Mbd2", "start": 65, "end": 69}], "disease": [{"text": "seizure", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "STAT3 has this dual role in tumour inflammation and immunity by promoting pro-oncogenic inflammatory pathways, including nuclear factor-kappaB (NF-kappaB) and interleukin-6 (IL-6)-GP130-Janus kinase (JAK) pathways, and by opposing STAT1-and NF-kappaB-mediated T helper 1 anti-tumour immune responses.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 231, "end": 236}], "disease": [{"text": "inflammation", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In colorectal cancer, loss of PDCD4 has been reported in association with increased tumour aggressiveness and poor prognosis.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 30, "end": 35}], "disease": [{"text": "aggressiveness", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In addition, the thymidine phosphorylase gene (TP) involved in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and three genes involved in chronic pancreatitis-PRSS1, SPINK1 and CFTR-were sequenced in affected patients.", "output": {"entities": {"gene": [{"text": "thymidine phosphorylase gene", "start": 17, "end": 45}], "disease": [{"text": "chronic pancreatitis", "start": 153, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In four (15%) of 26 patients with atypical Werner' s syndrome, we noted heterozygosity for novel missense mutations in LMNA, specifically A57P, R133L (in two people), and L140R.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 119, "end": 123}], "disease": [{"text": "atypical Werner' s syndrome", "start": 34, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 119, "end": 123}, "tail": {"text": "atypical Werner' s syndrome", "start": 34, "end": 61}}]}}, "schema": []}
{"input": "We surmise that high circulating levels of interleukin-6 (and ACTH) may have induced haemorrhagic necrosis of the adrenal glands and accounted for the constitutional symptoms.", "output": {"entities": {"gene": [{"text": "interleukin-6", "start": 43, "end": 56}], "disease": [{"text": "necrosis", "start": 98, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-6", "start": 43, "end": 56}, "tail": {"text": "necrosis", "start": 98, "end": 106}}]}}, "schema": []}
{"input": "Because the phenotypes of stargazer mice and SCA10 patients were similar, consisting of both cerebellar ataxia and seizures, we hypothesized that CACNG2 was a likely candidate for the SCA10 locus.", "output": {"entities": {"gene": [{"text": "CACNG2", "start": 146, "end": 152}], "disease": [{"text": "cerebellar ataxia", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We observed evidence that XRCC1 may modify the effects of smoking (interaction P = 0. 012).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 26, "end": 31}], "disease": [{"text": "smoking", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "SULT2B1 expression was significantly higher in colorectal tumor tissues than in normal tissues in the Cancer Genome Atlas (TCGA) database (P & #8201; & lt; & #8201; 1. 0 & #8201; & #215; & #8201; 10 & lt; sup & gt;-4 & lt;/sup & gt;).", "output": {"entities": {"gene": [{"text": "SULT2B1", "start": 0, "end": 7}], "disease": [{"text": "colorectal tumor", "start": 47, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SULT2B1", "start": 0, "end": 7}, "tail": {"text": "colorectal tumor", "start": 47, "end": 63}}]}}, "schema": []}
{"input": "Similar to adiponectin, serum levels of CTRP1 were significantly correlated to several parameters involved in glucose metabolism and insulin resistance, and independently associated with fasting glucose levels (p < 0. 05) after BMI and gender adjustments.", "output": {"entities": {"gene": [{"text": "CTRP1", "start": 40, "end": 45}], "disease": [{"text": "insulin resistance", "start": 133, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.", "output": {"entities": {"gene": [{"text": "hMLH1", "start": 64, "end": 69}], "disease": [{"text": "colorectal cancer", "start": 99, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMLH1", "start": 64, "end": 69}, "tail": {"text": "colorectal cancer", "start": 99, "end": 116}}]}}, "schema": []}
{"input": "In normal cells, impaired cyclin E degradation produces genome instability, but this is rapidly mitigated by induction of p53 and p21.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 26, "end": 34}], "disease": [{"text": "genome instability", "start": 56, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "When phosphorylation is blocked, IkappaBalpha remains intact, thereby blocking NF-kappaB translocation to the nucleus and subsequent activation of antiapoptotic genes that cause TNF-alpha insensitivity.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 178, "end": 187}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "SNPs at GRB14 were also associated with insulin sensitivity (P = 5. 0 × 10 (-4)), and SNPs at ST6GAL1 and HNF4A were also associated with pancreatic beta-cell function (P = 0. 02 and P = 0. 001, respectively).", "output": {"entities": {"gene": [{"text": "GRB14", "start": 8, "end": 13}], "disease": [{"text": "insulin sensitivity", "start": 40, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Here we found that injection of AgRP into the cerebral ventricles resulted in a gain of body mass and improved metabolic rate regulation in a mouse model of uremic cachexia.", "output": {"entities": {"gene": [{"text": "AgRP", "start": 32, "end": 36}], "disease": [{"text": "cachexia", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "For oropharyngeal CT (9 infections detected), sensitivities were 44% for culture, 67% for SDA, and 100% for AC2.", "output": {"entities": {"gene": [{"text": "SDA", "start": 90, "end": 93}], "disease": [{"text": "infections", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "This is the first report showing LOH at the p53 gene locus in a significant number of human VS and both sporadic and NF2 cases show the LOH event.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 44, "end": 52}], "disease": [{"text": "sporadic", "start": 104, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Utility of FISH in the diagnosis of angiomatoid fibrous histiocytoma: a series of 18 cases.", "output": {"entities": {"gene": [{"text": "FISH", "start": 11, "end": 15}], "disease": [{"text": "angiomatoid fibrous histiocytoma", "start": 36, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Ubiquitous expression of the Pik3ca (H1047R) mutation throughout the body resulted in a dramatic increase in body weight within 3 weeks of induction (mutant 150 ± 5%; wild-type 117 ± 3%, mean ± sem), which was associated with increased organ size rather than adiposity.", "output": {"entities": {"gene": [{"text": "Pik3ca", "start": 29, "end": 35}], "disease": [{"text": "body weight", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Sp1 role in the regulation of complex I subunits, was demonstrated by the ability of the Sp1/DNA binding inhibitor, mithramycin, to inhibit the transcription of NDUFV1 and NDUFV2, in neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "NDUFV1", "start": 161, "end": 167}], "disease": [{"text": "neuroblastoma", "start": 183, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Disruption of this gene was indicated in a patient with a t (8; 17) (p11; q25) and Ph-negative chronic myeloid leukemia in association with systemic malignant mast cell disease, a patient with acute myeloid leukemia with a t (8; 11) (p11; p15), and two cases with T-cell lymphoma, myeloproliferative disorder, and marrow eosinophilia with a t (8; 12) (p11; q15) and ins (12; 8) (p11; p11p21), respectively.", "output": {"entities": {"gene": [{"text": "p11", "start": 69, "end": 72}], "disease": [{"text": "myeloproliferative disorder", "start": 281, "end": 308}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 134, "end": 139}], "disease": [{"text": "21-hydroxylase deficiency", "start": 74, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 134, "end": 139}, "tail": {"text": "21-hydroxylase deficiency", "start": 74, "end": 99}}]}}, "schema": []}
{"input": "Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.", "output": {"entities": {"gene": [{"text": "GRIA2", "start": 42, "end": 47}], "disease": [{"text": "ID", "start": 140, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA2", "start": 42, "end": 47}, "tail": {"text": "ID", "start": 140, "end": 142}}]}}, "schema": []}
{"input": "Immunoreactivity for drebrin and MAP2 in hippocampus CA1 area decreased 7 days after ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 53, "end": 56}], "disease": [{"text": "ischemia", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that IL-27 can be effective in reducing tumor growth and can help enhance accumulation of effector cells in prostate tumors in vivo.", "output": {"entities": {"gene": [{"text": "IL-27", "start": 25, "end": 30}], "disease": [{"text": "prostate tumors", "start": 128, "end": 143}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-27", "start": 25, "end": 30}, "tail": {"text": "prostate tumors", "start": 128, "end": 143}}]}}, "schema": []}
{"input": "The MPO plasma levels of patients with HCV-HCC were higher in comparison to patients with chronic hepatitis or with those patients with severe fibrosis (p = 0. 01 and p = 0. 04, respectively).", "output": {"entities": {"gene": [{"text": "HCC", "start": 43, "end": 46}], "disease": [{"text": "chronic hepatitis", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate the expression and genetic variation of PXR in reflux esophagitis (RE), Barrett' s esophagus (BE) and esophageal adenocarcinoma.", "output": {"entities": {"gene": [{"text": "PXR", "start": 72, "end": 75}], "disease": [{"text": "reflux esophagitis", "start": 79, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Phosphatidylinositol-3-kinase (PI3K) pathway deregulation is a common event in human cancer, either through inactivation of the tumor suppressor phosphatase and tensin homologue deleted from chromosome 10 or activating mutations of p110-alpha.", "output": {"entities": {"gene": [{"text": "tensin", "start": 161, "end": 167}], "disease": [{"text": "cancer", "start": 85, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the potential roles of early growth response gene-1 (Egr-1), Sp1, nuclear factor-kappaB (NF-kappaB), activator protein-1 (AP-1), and hypoxia-inducible factor-1 (HIF-1) in the hypoxic regulation of tissue factor by glioblastoma multiforme cells in vitro.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 144, "end": 148}], "disease": [{"text": "hypoxic", "start": 197, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Thus, this study emphasizes that IL-4 may be considered as a link between inflammation and collagen deposition observed in asthmatic airways.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 33, "end": 37}], "disease": [{"text": "inflammation", "start": 74, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Imputation analysis refined association between ADAMTSL3 and schizophrenia, and highlighted additional common variants with similar levels of association.", "output": {"entities": {"gene": [{"text": "ADAMTSL3", "start": 48, "end": 56}], "disease": [{"text": "schizophrenia", "start": 61, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAMTSL3", "start": 48, "end": 56}, "tail": {"text": "schizophrenia", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "The mutation was also detected in two asymptomatic family members who showed irregular pigmentation in the retinal pigment epithelium (RPE).", "output": {"entities": {"gene": [{"text": "RPE", "start": 135, "end": 138}], "disease": [{"text": "asymptomatic", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Expression of Cx30 and Cx32, at both the mRNA and protein levels, was measured in the hippocampus at the beginning, in the middle (after acquisition of focal seizures), and at the end (after establishment of generalized seizures) of the kindling process, by real-time PCR and Western blot.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 23, "end": 27}], "disease": [{"text": "focal seizures", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "The findings suggest an important role for ALR in hepatocellular regeneration in liver cirrhosis as well as in hepatocarcinogenesis and therefore its potential value in the clinical diagnosis of hepatic cirrhosis and cancer.", "output": {"entities": {"gene": [{"text": "ALR", "start": 43, "end": 46}], "disease": [{"text": "hepatocarcinogenesis", "start": 111, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle' s disease.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 46, "end": 62}], "disease": [{"text": "McArdle' s disease", "start": 94, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 46, "end": 62}, "tail": {"text": "McArdle' s disease", "start": 94, "end": 112}}]}}, "schema": []}
{"input": "No association between the NAT2 slow acetylator genotype and bladder cancer was found either by crude analyses [odds ratio (OR), 1. 32; 95% confidence interval (CI), 0. 91-1. 92) or by logistic regression analyses adjusted for age, gender, and smoking exposure (OR, 1. 22; 95% CI, 0. 92-1. 62).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 27, "end": 31}], "disease": [{"text": "smoking", "start": 244, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "The effect of SHIP2 on tumor growth in vivo was detected by xenograft tumorigenesis assays.", "output": {"entities": {"gene": [{"text": "SHIP2", "start": 14, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 70, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "This is the first child-based study showing a protective role of the 121Q variant of ENPP1 against overweight/obesity.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 85, "end": 90}], "disease": [{"text": "overweight", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We identified a patient with multifocal mononeuropathies and mild distal neuropathy, growth hormone deficiency, and mild mental retardation who was found to have a duplication of the SMS region of 17p11. 2 and a deletion of the peripheral myelin protein 22 (PMP22) gene within 17p12 on the homologous chromosome.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 258, "end": 263}], "disease": [{"text": "mild", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Here, we analyze the effect of the canonical AS mutations, the D321A PS mutation and the S252L/A315S double mutation on FGFR2 ligand binding affinity and specificity using surface plasmon resonance.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 120, "end": 125}], "disease": [{"text": "AS", "start": 45, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 120, "end": 125}, "tail": {"text": "AS", "start": 45, "end": 47}}]}}, "schema": []}
{"input": "In vivo, the VECad-Nox4 mice had accelerated recovery from hindlimb ischemia and enhanced aortic capillary sprouting.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 19, "end": 23}], "disease": [{"text": "ischemia", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The TIN2 (DC) allele induced mild ATR kinase signaling at telomeres and a fragile telomere phenotype, suggestive of telomere replication problems.", "output": {"entities": {"gene": [{"text": "ATR", "start": 34, "end": 37}], "disease": [{"text": "mild", "start": 29, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "DPP4 could only be observed in endothelial cells of plaque neovessels in half of the specimens.", "output": {"entities": {"gene": [{"text": "DPP4", "start": 0, "end": 4}], "disease": [{"text": "plaque", "start": 52, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, MCP-1 is dynamically regulated in DCM related deterioration of left ventricular function.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 15, "end": 20}], "disease": [{"text": "left ventricular function", "start": 78, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In selected keloid fibroblast cultures, an overproduction of type I procollagen was observed.", "output": {"entities": {"gene": [{"text": "type I procollagen", "start": 61, "end": 79}], "disease": [{"text": "keloid", "start": 12, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Two RANTES-403 (G to A) and-28 (C to G), an-1055 IL-13 (C to T), and a-444 (A to C) leukotriene C4 synthase (LTC4S) single nucleotide polymorphisms (SNPs) have been shown in Caucasians and Asians as asthma and atopy risk factors.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 4, "end": 10}], "disease": [{"text": "atopy", "start": 210, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest that miR-503 regulates the resistance of non-small cell lung cancer cells to cisplatin at least in part by targeting FANCA.", "output": {"entities": {"gene": [{"text": "FANCA", "start": 153, "end": 158}], "disease": [{"text": "non-small cell lung cancer", "start": 77, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that the granule cell hypertrophy in LDD is secondary to activation of mammalian target of rapamycin (mTOR), a downstream effector in the PTEN/AKT pathway and a major regulator of cell growth.", "output": {"entities": {"gene": [{"text": "AKT", "start": 159, "end": 162}], "disease": [{"text": "hypertrophy", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression of a plasmid encoding NP73-102, the NH2-terminal peptide of the ANP prohormone which downregulates NPR-A expression, also suppressed lung metastasis of A549 cells in nude mice and tumorigenesis of Line 1 cells in immunocompetent BALB/c mice.", "output": {"entities": {"gene": [{"text": "ANP", "start": 83, "end": 86}], "disease": [{"text": "lung metastasis", "start": 152, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Moreover, this mutation could be absent in late-onset FAD and sporadic AD in Japan.", "output": {"entities": {"gene": [{"text": "FAD", "start": 54, "end": 57}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the role of interleukin (IL)-21 in colitis-associated colon cancer (CAC), as this cytokine is overexpressed in the gut mucosa of patients with ulcerative colitis (UC), a chronic inflammatory disease associated with colon cancer.", "output": {"entities": {"gene": [{"text": "CAC", "start": 89, "end": 92}], "disease": [{"text": "colon cancer", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that CRFR1 is involved in the stress-induced exacerbation of chronic contact dermatitis.", "output": {"entities": {"gene": [{"text": "CRFR1", "start": 27, "end": 32}], "disease": [{"text": "contact dermatitis", "start": 91, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRFR1", "start": 27, "end": 32}, "tail": {"text": "contact dermatitis", "start": 91, "end": 109}}]}}, "schema": []}
{"input": "Of 20 informative cases, only one (5%) sporadic MTC showed loss of heterozygosity at the locus RBP3.", "output": {"entities": {"gene": [{"text": "RBP3", "start": 95, "end": 99}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Serum from nine healthy active smokers (AS) compared with serum from nine non-smokers (NS) showed higher levels of interleukin-1beta (IL-1β) and tumour necrosis factor-alpha (TNF-α) and a greater ability to induce ROS production, p47phox translocation to the plasma membrane, and COX-2 mRNA and protein expression in endothelial cells (ECs).", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 175, "end": 180}], "disease": [{"text": "translocation", "start": 238, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 40, "end": 45}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "HOXA-10 mRNA and protein expression levels in endometrial stromal cells were significantly lower in infertile patients with different types of endometriosis (deep infiltrating endometriosis, ovarian endometriosis and superficial peritoneal endometriosis), with uterine myoma, and unexplained infertility patients as compared with healthy fertile controls.", "output": {"entities": {"gene": [{"text": "HOXA", "start": 0, "end": 4}], "disease": [{"text": "uterine myoma", "start": 261, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "There was no 2-bp insertion in exon 29 of both C4A and C4B genes in normal individual and the rest of SLE patients.", "output": {"entities": {"gene": [{"text": "C4B", "start": 55, "end": 58}], "disease": [{"text": "SLE", "start": 102, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C4B", "start": 55, "end": 58}, "tail": {"text": "SLE", "start": 102, "end": 105}}]}}, "schema": []}
{"input": "This study provides evidence that the X-DING-CD4 protein might be developed as a novel biotherapeutic to control LPS-mediated inflammation in advanced HIV disease.", "output": {"entities": {"gene": [{"text": "DING", "start": 40, "end": 44}], "disease": [{"text": "inflammation", "start": 126, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Increased levels of extracellular matrix metalloproteinase inducer colocalized with increased matrix metalloproteinases in lymphangioleiomyomatosis cells indicate that it potentially functions in pulmonary lymphangioleiomyomatosis.", "output": {"entities": {"gene": [{"text": "extracellular matrix metalloproteinase inducer", "start": 20, "end": 66}], "disease": [{"text": "pulmonary lymphangioleiomyomatosis", "start": 196, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "We conclude that somatic mutation of the CYLD1 gene outside the skin can have a role in the oncogenesis of tumors with cylindromatous features.", "output": {"entities": {"gene": [{"text": "CYLD1", "start": 41, "end": 46}], "disease": [{"text": "somatic mutation", "start": 17, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Prospectively collected cremaster muscle and/or hernia sac tissues from boys with congenital (79) or acquired (66) nonsyndromic cryptorchidism and hernia/hydrocele (controls, 84) were analyzed for hormone receptor (RXFP2, AR, ESR1, ESR2) and myosin heavy chain specific (MYH1, MYH2, MYH7) mRNA expression using real-time reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "MYH1", "start": 271, "end": 275}], "disease": [{"text": "hydrocele", "start": 154, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency.", "output": {"entities": {"gene": [{"text": "alpha-NAGA", "start": 139, "end": 149}], "disease": [{"text": "alpha-NAGA deficiency", "start": 218, "end": 239}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "alpha-NAGA", "start": 139, "end": 149}, "tail": {"text": "alpha-NAGA deficiency", "start": 218, "end": 239}}]}}, "schema": []}
{"input": "In GGC homozygote, blood pressure showed positive and significant association with fat percentage and GMT (P <. 001).", "output": {"entities": {"gene": [{"text": "GGC", "start": 3, "end": 6}], "disease": [{"text": "blood pressure", "start": 19, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In combination with previously established roles for MMR proteins in response to UVB-induced DNA damage, our data point towards an expanded perspective of the importance of MMR proteins in the suppression of UVB-induced tumorigenesis and, potentially, tumour behaviour.", "output": {"entities": {"gene": [{"text": "MMR", "start": 53, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 220, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Using RT-PCR (for ERalpha and ERbeta) and Western blotting (for ERalpha only), we demonstrated that all cultures of early passage myometrial and fibroid SMC (> 99% pure) expressed ERalpha but not ERbeta, while myometrial and fibroid MEC (> 99% CD31 +) constitutively expressed ERbeta.", "output": {"entities": {"gene": [{"text": "SMC", "start": 153, "end": 156}], "disease": [{"text": "fibroid", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "When stratified by the C914T genotype, there were between-group differences for body mass index (BMI) (P = 0. 05), diastolic blood pressure (DBP) (P = 0. 006), and systolic blood pressure (SBP) (P = 0. 005).", "output": {"entities": {"gene": [{"text": "DBP", "start": 141, "end": 144}], "disease": [{"text": "systolic blood pressure", "start": 164, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated whether adenovirus (Adv)-mediated coinduction of p33ING1 and p53 enhances apoptosis in glioma cells (U251 and U-373 MG), which showed no genetic alterations but low expression levels of p33ING1.", "output": {"entities": {"gene": [{"text": "p33ING1", "start": 80, "end": 87}], "disease": [{"text": "adenovirus", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Primary cultures of ameloblastoma cells expressed cytokeratin (CK) 14 and 16, and MMP-2, but only weakly expressed CK18 and vimentin.", "output": {"entities": {"gene": [{"text": "CK18", "start": 115, "end": 119}], "disease": [{"text": "ameloblastoma", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The effects of silibinin on sPLA2 expressions in human HepG2 hepatoma and PC-3 prostate cancer cells were analyzed using quantitative reverse transcription-polymerase chain reaction and enzyme linked immunosorbent assay technique.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 74, "end": 78}], "disease": [{"text": "hepatoma", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The EGF family of ligands and receptors plays an important role in the pathogenesis of pancreatic ductal adenocarcinoma (PDAC) and contributes to its aggressiveness.", "output": {"entities": {"gene": [{"text": "EGF", "start": 4, "end": 7}], "disease": [{"text": "aggressiveness", "start": 150, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Thus, PTX3 may represent a new marker of cancer-related inflammation and glioma malignancy.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 6, "end": 10}], "disease": [{"text": "glioma", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Analyzing the PARK7/DJ1 gene in 104 EOPD patients, we identified a third mutation, c. 192G & gt; C (p. E64D), associated with EOPD in a patient of Turkish ancestry and characterized the functional significance of this amino acid substitution.", "output": {"entities": {"gene": [{"text": "DJ1", "start": 20, "end": 23}], "disease": [{"text": "PARK7", "start": 14, "end": 19}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DJ1", "start": 20, "end": 23}, "tail": {"text": "PARK7", "start": 14, "end": 19}}]}}, "schema": []}
{"input": "Here, we describe a further 8 independent families comprising 10 affected individuals with Carpenter syndrome, who were positive for mutations in RAB23.", "output": {"entities": {"gene": [{"text": "RAB23", "start": 146, "end": 151}], "disease": [{"text": "Carpenter syndrome", "start": 91, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB23", "start": 146, "end": 151}, "tail": {"text": "Carpenter syndrome", "start": 91, "end": 109}}]}}, "schema": []}
{"input": "Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy.", "output": {"entities": {"gene": [{"text": "pax8", "start": 30, "end": 34}], "disease": [{"text": "infertile", "start": 54, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medication use, cardiovascular disease and diabetes, and for all relevant genetic polymorphisms (ApoE2, ApoE4, CFH Y402H, ARMS2 A69S, LIPC rs10468017, LIPC rs493258, LPL rs12678919, ABCA1 rs1883025 and CETP rs3764261), higher HDL was significantly associated with an increased risk of early (OR = 2. 45, 95% CI: 1. 54-3. 90; P = 0. 0002) and any AMD (OR = 2. 29, 95% CI: 1. 46-3. 59; P = 0. 0003).", "output": {"entities": {"gene": [{"text": "LIPC", "start": 226, "end": 230}], "disease": [{"text": "smoking", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Increasing alcohol intake was associated with increasing erythrocyte volume, AST/ALT, and levels of ALT, gamma-GT, albumin, bilirubin, coagulation factors, and with decreasing levels of alkaline phosphatase.", "output": {"entities": {"gene": [{"text": "AST", "start": 77, "end": 80}], "disease": [{"text": "alcohol intake", "start": 11, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "HRT had no effects on fibrinogen and factor VIII.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 37, "end": 48}], "disease": [{"text": "fibrinogen", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In vitro, BCR-ABL kinase inhibitor imatinib mesylate or siRNA specific to BCR-ABL upregulated SARI mRNA expression in human leukemia cells.", "output": {"entities": {"gene": [{"text": "SARI", "start": 94, "end": 98}], "disease": [{"text": "leukemia", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We estimated the heritability of ambulatory systolic blood pressure (SBP), diastolic blood pressure (DBP), and pulse pressure (PP) in east African families with at least 2 hypertensive siblings and living in the Seychelles islands (Indian Ocean).", "output": {"entities": {"gene": [{"text": "DBP", "start": 101, "end": 104}], "disease": [{"text": "systolic blood pressure", "start": 44, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "PAN-induced nephrosis is interesting in studying the pathophysiological mechanism of the lowered activity of plasma renin in some patients with nephrotic syndrome.", "output": {"entities": {"gene": [{"text": "renin", "start": 116, "end": 121}], "disease": [{"text": "nephrosis", "start": 12, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 116, "end": 121}, "tail": {"text": "nephrosis", "start": 12, "end": 21}}]}}, "schema": []}
{"input": "Geometric mean (SD range) hs-CRP levels were significantly lower (P < or = 0. 009) for HNF1A-MODY individuals, 0. 20 (0. 03-1. 14) mg/l, than for any other group: autoimmune diabetes 0. 58 (0. 10-2. 75) mg/l, type 2 diabetes 1. 33 (0. 28-6. 14) mg/l, GCK-MODY 1. 01 (0. 19-5. 33) mg/l, and nondiabetic 0. 48 (0. 10-2. 42) mg/l.", "output": {"entities": {"gene": [{"text": "type 2 diabetes 1", "start": 209, "end": 226}], "disease": [{"text": "autoimmune diabetes", "start": 163, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the clinical utility of serum levels of N-terminal pro C-type natruretic pep-tide (NT-pro CNP) in patients with hepatitis C related chronic liver disease (CLD), in prospective to disease complications and progression.", "output": {"entities": {"gene": [{"text": "CNP", "start": 102, "end": 105}], "disease": [{"text": "chronic liver disease", "start": 144, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Distinctive immunohistochemical staining for alpha (2) M could be consistently demonstrated in GST-P-negative HAF, HCA, and HCC induced not only by peroxisome proliferators but also N-nitrosodiethylamine alone.", "output": {"entities": {"gene": [{"text": "alpha (2) M", "start": 45, "end": 56}], "disease": [{"text": "HCC", "start": 124, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2) M", "start": 45, "end": 56}, "tail": {"text": "HCC", "start": 124, "end": 127}}]}}, "schema": []}
{"input": "Rhesus macaques infected IVAG with SHIVSF33A demonstrated a dramatic decrease in the CD4 (+) PBMC subset in the initial weeks after viral exposure, a time that corresponded to peak in plasma viremia and antigenemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 85, "end": 88}], "disease": [{"text": "viremia", "start": 191, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Experimental models of vaccination with tumor cells engineered to produce interleukin-4 (IL-4) have shown that the local release of this cytokine is associated with the development of antitumor immunity that may induce regression of established cancer.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 89, "end": 93}], "disease": [{"text": "regression", "start": 219, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Long noncoding RNA lncTCF7, induced by IL-6/STAT3 transactivation, promotes hepatocellular carcinoma aggressiveness through epithelial-mesenchymal transition.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 39, "end": 43}], "disease": [{"text": "aggressiveness", "start": 101, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that PlGF contributes to the therapeutic benefits of MSC delivery in cerebral ischaemia, we compared the efficacy of systemic delivery of human MSCs (hMSCs) and hMSCs transfected with a fibre-mutant F/RGD adenovirus vector with a PlGF gene (PlGF-hMSCs).", "output": {"entities": {"gene": [{"text": "MSC", "start": 76, "end": 79}], "disease": [{"text": "cerebral ischaemia", "start": 92, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Thus, EC-SOD overexpressed hearts are less susceptible to mild degrees of ischemia-reperfusion injury than normal hearts.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 6, "end": 12}], "disease": [{"text": "mild", "start": 58, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Sensitivity and specificity for detection of the precursor lesion intestinal metaplasia were 100% and 85%, respectively, for claudin-4; 89% and 92%, respectively, for MKK4; and 97% and 97%, respectively, for stratifin.", "output": {"entities": {"gene": [{"text": "MKK4", "start": 167, "end": 171}], "disease": [{"text": "intestinal metaplasia", "start": 66, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We now show in the mouse that thalidomide given intraperitoneally but not orally significantly inhibits bFGF-induced and vascular endothelial growth factor (VEGF)-induced corneal neovascularization.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor", "start": 121, "end": 155}], "disease": [{"text": "corneal neovascularization", "start": 171, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vascular endothelial growth factor", "start": 121, "end": 155}, "tail": {"text": "corneal neovascularization", "start": 171, "end": 197}}]}}, "schema": []}
{"input": "To further elucidate the significance of alterations in the Shh signaling pathway, we investigated 31 sporadic BCCs and 15 PNETs for the mutation and/or expression of SMOH, PTCH, SHH, and GL11.", "output": {"entities": {"gene": [{"text": "SMOH", "start": 167, "end": 171}], "disease": [{"text": "PNET", "start": 123, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMOH", "start": 167, "end": 171}, "tail": {"text": "PNET", "start": 123, "end": 127}}]}}, "schema": []}
{"input": "DDX41 was also found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a biallelic fashion in 50% of patients with germline DDX41 mutations.", "output": {"entities": {"gene": [{"text": "DDX41", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "However, the deletion of TLR4 from myeloid lineage cells had no effect on the development of PH because we found no difference in RV systolic pressure or RV hypertrophy in wild-type versus LysM-TLR4 (-/-) mice.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 25, "end": 29}], "disease": [{"text": "systolic pressure", "start": 133, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 57, "end": 61}], "disease": [{"text": "MFS", "start": 125, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 57, "end": 61}, "tail": {"text": "MFS", "start": 125, "end": 128}}]}}, "schema": []}
{"input": "Weight loss was associated with an increase in IRAK3 and a decrease in SOD2, in association with a lowering of systemic inflammation and a decreasing number of metabolic syndrome components.", "output": {"entities": {"gene": [{"text": "IRAK3", "start": 47, "end": 52}], "disease": [{"text": "inflammation", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Several studies have demonstrated a linkage or association of the atopic phenotype with T-cell cytokine genes involved in the regulation of the TH1/TH2 balance (eg, IL4, IL13, and their common receptor, IL4RA).", "output": {"entities": {"gene": [{"text": "IL13", "start": 170, "end": 174}], "disease": [{"text": "atopic", "start": 66, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index.", "output": {"entities": {"gene": [{"text": "butyrylcholinesterase", "start": 36, "end": 57}], "disease": [{"text": "stature", "start": 61, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Recently, some reports show that Ligand of Numb Protein-X 1 (LNX1) could be a suppressor gene in gliomas, while our current research has firstly shown that PDZ domain containing ring finger 4 (PDZRN4), another member of LNX family, could also be a potential suppressor in hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "PDZRN4", "start": 193, "end": 199}], "disease": [{"text": "gliomas", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, it is conceivable that LOX downregulation could underlie plaque instability and contribute to the destructive remodelling that takes place during aneurysm development.", "output": {"entities": {"gene": [{"text": "LOX", "start": 36, "end": 39}], "disease": [{"text": "aneurysm", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.", "output": {"entities": {"gene": [{"text": "CAPN3", "start": 101, "end": 106}], "disease": [{"text": "limb girdle muscular dystrophy type 2a", "start": 10, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CAPN3", "start": 101, "end": 106}, "tail": {"text": "limb girdle muscular dystrophy type 2a", "start": 10, "end": 48}}]}}, "schema": []}
{"input": "The most reliable imaging discriminators of ALT/WDL were size of lesion and lipomatous content, but due to the overlap in the MRI appearances of lipoma and ALT/WDL, discrimination should be based on molecular pathology rather than imaging.", "output": {"entities": {"gene": [{"text": "MRI", "start": 126, "end": 129}], "disease": [{"text": "lipoma", "start": 76, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "These studies reveal a conserved requirement for ZC3H14/dNab2 in the metazoan nervous system and identify a poly (A) RNA binding protein associated with a human brain disorder.", "output": {"entities": {"gene": [{"text": "RNA binding protein", "start": 117, "end": 136}], "disease": [{"text": "brain disorder", "start": 161, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Metastatic extraosseous Ewing tumor. Association of the additional translocation der (16) t (1; 16) with the variant EWS/ERG rearrangement in a case of cytogenetically inconspicuous chromosome 22.", "output": {"entities": {"gene": [{"text": "EWS", "start": 117, "end": 120}], "disease": [{"text": "translocation", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In addition, unexpected splenomegaly affiliated with the xenograft predicted tumor-derived granulocyte colony-stimulating factor (G-CSF) production, which was confirmed by reverse-transcription polymerase chain reaction and enzyme-linked immunosorbent assay.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 91, "end": 128}], "disease": [{"text": "splenomegaly", "start": 24, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Livin gene expression was detected in a significant portion of RCC tumor tissue specimens (13/14, 92. 9%) and tumor-derived cell lines (12/15, 80. 0%).", "output": {"entities": {"gene": [{"text": "Livin", "start": 0, "end": 5}], "disease": [{"text": "RCC", "start": 63, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Livin", "start": 0, "end": 5}, "tail": {"text": "RCC", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "Interestingly, the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant.", "output": {"entities": {"gene": [{"text": "SMOC1", "start": 126, "end": 131}], "disease": [{"text": "anophthalmia/syndactyly", "start": 78, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMOC1", "start": 126, "end": 131}, "tail": {"text": "anophthalmia/syndactyly", "start": 78, "end": 101}}]}}, "schema": []}
{"input": "507 Japanese sporadic PTC cases and 2766 controls were genotyped for rs965513 (FOXE1) and rs944289 (NKX2-1).", "output": {"entities": {"gene": [{"text": "NKX2-1", "start": 100, "end": 106}], "disease": [{"text": "sporadic", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "These findings identify NSD2 as a potential therapeutic target for pediatric ALL and provide a general framework for the functional annotation of cancer epigenomes.", "output": {"entities": {"gene": [{"text": "NSD2", "start": 24, "end": 28}], "disease": [{"text": "pediatric ALL", "start": 67, "end": 80}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NSD2", "start": 24, "end": 28}, "tail": {"text": "pediatric ALL", "start": 67, "end": 80}}]}}, "schema": []}
{"input": "The p. D160H allele accounts for 55. 6% of the mutational SLC45A2 alleles in Chinese OCA4 patients.", "output": {"entities": {"gene": [{"text": "SLC45A2", "start": 58, "end": 65}], "disease": [{"text": "OCA4", "start": 85, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC45A2", "start": 58, "end": 65}, "tail": {"text": "OCA4", "start": 85, "end": 89}}]}}, "schema": []}
{"input": "Pharmacologic doses of xenin-25, another peptide produced by K cells, restored the GIP-mediated insulin secretory response and reduced hyperglycemia in GIP/DT mice.", "output": {"entities": {"gene": [{"text": "GIP", "start": 83, "end": 86}], "disease": [{"text": "hyperglycemia", "start": 135, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Although the first three mechanisms do not appear to be relevant, regression of myeloid suppressor cells in Stat6-deficient and CD1-deficient mice may be responsible for enhanced immunosurveillance.", "output": {"entities": {"gene": [{"text": "Stat6", "start": 108, "end": 113}], "disease": [{"text": "regression", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Possible involvement of the HLA-DQB1 gene in susceptibility and resistance to human dilated cardiomyopathy.", "output": {"entities": {"gene": [{"text": "HLA-DQB1 gene", "start": 28, "end": 41}], "disease": [{"text": "cardiomyopathy", "start": 92, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "For 69 non-small-cell lung cancer patients treated with gefitinib, we have extended our analysis to EGFR gene copy number by fluorescence in situ hybridization, mutations in K-ras, HER2, and exon 20 of EGFR by direct sequencing, and phosphatase and tensin homologue expression by immunohistochemistry, in addition to EGFR exons 18, 19, and 21, and phosphorylations of Akt and extracellular signal-regulated kinase reported previously.", "output": {"entities": {"gene": [{"text": "tensin", "start": 249, "end": 255}], "disease": [{"text": "lung cancer", "start": 22, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "cytochrome P450c17", "start": 40, "end": 58}], "disease": [{"text": "17 alpha-hydroxylase deficiency", "start": 66, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cytochrome P450c17", "start": 40, "end": 58}, "tail": {"text": "17 alpha-hydroxylase deficiency", "start": 66, "end": 97}}]}}, "schema": []}
{"input": "We report a child with a 785kb deletion of the 3p14. 1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis.", "output": {"entities": {"gene": [{"text": "EIF4E3", "start": 92, "end": 98}], "disease": [{"text": "hypertonia", "start": 154, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants in DAT1, the gene encoding the dopamine transporter (DAT) protein, have been implicated in many brain disorders.", "output": {"entities": {"gene": [{"text": "DAT1", "start": 20, "end": 24}], "disease": [{"text": "brain disorders", "start": 113, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Expression of PgR (P < 0. 05) and cyclin D1 (P < 0. 01) was low in the BRCA1-and BRCA2-associated cancers compared with sporadic cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 81, "end": 86}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "PLP2 specifically binds to phosphatidylinositol 3 kinase to activate the protein kinase B pathway to enhance cell proliferation, adhesion, and invasion in melanoma cells.", "output": {"entities": {"gene": [{"text": "protein kinase B", "start": 73, "end": 89}], "disease": [{"text": "adhesion", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "IL-6 was associated with wheezing and CRP was associated with wheezing and rales in SM exposed group.", "output": {"entities": {"gene": [{"text": "CRP", "start": 38, "end": 41}], "disease": [{"text": "rales", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "This novel TG mouse model of the human MM t (14; 16) (q32; q23) chromosomal translocation should serve to provide new insight into the role of c-MAF in tumorigenesis.", "output": {"entities": {"gene": [{"text": "c-MAF", "start": 143, "end": 148}], "disease": [{"text": "chromosomal translocation", "start": 64, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Significant interactions were observed between smoking status and SULT1A1-638 (P = 0. 02), NAT2-857 (P = 0. 01), and CYP1B1-4390 (P = 0. 04) variants and between smoking duration and NAT1-1088 (P = 0. 02), SULT1A1-638 (P = 0. 04), and NAT1-acetylator (P = 0. 03) status.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 117, "end": 123}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death.", "output": {"entities": {"gene": [{"text": "CACNA1E", "start": 67, "end": 74}], "disease": [{"text": "seizures", "start": 156, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNA1E", "start": 67, "end": 74}, "tail": {"text": "seizures", "start": 156, "end": 164}}]}}, "schema": []}
{"input": "An opposite effect was observed in the hippocampus, where CFA down-regulated NK-1 receptor and BDNF gene expression, phenomena previously observed in immobilization models of stress and depression.", "output": {"entities": {"gene": [{"text": "NK-1 receptor", "start": 77, "end": 90}], "disease": [{"text": "depression", "start": 186, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NK-1 receptor", "start": 77, "end": 90}, "tail": {"text": "depression", "start": 186, "end": 196}}]}}, "schema": []}
{"input": "Twenty cases of healthy subjects, 11 cases with asymptomatic HCV/genotype 4 carriers (ASC), 28 chronic hepatitis (CH) cases and 32 patients with HCC were enrolled in this study.", "output": {"entities": {"gene": [{"text": "HCC", "start": 145, "end": 148}], "disease": [{"text": "chronic hepatitis", "start": 95, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Familial ovarian carcinomas do not appear to differ from sporadic ovarian carcinomas with regard to patient age at presentation, histopathology, ploidy, and immunohistochemically detected p53 expression.", "output": {"entities": {"gene": [{"text": "p53", "start": 188, "end": 191}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We found that rs2274700 (A473A) and rs7542235 (CFHR1-3Δ) were both significantly associated with diastolic blood pressure (DBP) (β = 0. 632-1. 431, P ≤ 0. 038) and systolic blood pressure (SBP) (β = 1. 567-4. 445, P ≤ 0. 008), and rs2274700 (A473A) was associated with hypertension risk (OR [95% CI]: 1. 175 [1. 005-1. 373], P = 0. 048).", "output": {"entities": {"gene": [{"text": "DBP", "start": 123, "end": 126}], "disease": [{"text": "systolic blood pressure", "start": 164, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Such connections to circadian genes such as CLOCK, ARNTL1, NPAS2, PER3 and NR1D1 have been repeatedly demonstrated for bipolar disorders, and to a lesser extent for recurrent depressive disorders and seasonal affective disorders.", "output": {"entities": {"gene": [{"text": "NPAS2", "start": 59, "end": 64}], "disease": [{"text": "bipolar disorders", "start": 119, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS2", "start": 59, "end": 64}, "tail": {"text": "bipolar disorders", "start": 119, "end": 136}}]}}, "schema": []}
{"input": "In this study, we tested the hypothesis that GST polymorphisms that lead to reduced or lack of enzyme activity are associated with severe Plasmodium falciparum malarial anemia.", "output": {"entities": {"gene": [{"text": "GST", "start": 45, "end": 48}], "disease": [{"text": "anemia", "start": 169, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that urea accumulation in the hippocampus induced by UT-B deletion can cause depression-like behavior, which possibly attribute to disturbance in NOS/NO system.", "output": {"entities": {"gene": [{"text": "NOS", "start": 168, "end": 171}], "disease": [{"text": "depression", "start": 99, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 168, "end": 171}, "tail": {"text": "depression", "start": 99, "end": 109}}]}}, "schema": []}
{"input": "To investigate the possible involvement of an intronic polymorphism in the presenilin 1 (PS1) gene and its interactions with the aplolipoprotein E (APOE) or alpha-1 antichymotrypsin (ACT) polymorphisms in the manifestation of AD, we analyzed the PS1, APOE and ACT genotypes of 100 sporadic AD patients and 199 normal elderly controls in Koreans.", "output": {"entities": {"gene": [{"text": "ACT", "start": 183, "end": 186}], "disease": [{"text": "sporadic", "start": 281, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the LRP4 3rd beta-propeller domain were previously reported to impair Wnt signaling and cause bone diseases including Cenani-Lenz syndactyly syndrome and sclerosteosis-2.", "output": {"entities": {"gene": [{"text": "LRP4", "start": 17, "end": 21}], "disease": [{"text": "sclerosteosis-2", "start": 167, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRP4", "start": 17, "end": 21}, "tail": {"text": "sclerosteosis-2", "start": 167, "end": 182}}]}}, "schema": []}
{"input": "To further analyse cancer involvement of basic transcription factor 3 (BTF3) after detection of its upregulation in gastric tumor samples.", "output": {"entities": {"gene": [{"text": "BTF3", "start": 71, "end": 75}], "disease": [{"text": "gastric tumor", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.", "output": {"entities": {"gene": [{"text": "ACTH receptor", "start": 23, "end": 36}], "disease": [{"text": "adrenal unresponsiveness to ACTH", "start": 73, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTH receptor", "start": 23, "end": 36}, "tail": {"text": "adrenal unresponsiveness to ACTH", "start": 73, "end": 105}}]}}, "schema": []}
{"input": "In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.", "output": {"entities": {"gene": [{"text": "NF-L", "start": 34, "end": 38}], "disease": [{"text": "bipolar disorder", "start": 73, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF-L", "start": 34, "end": 38}, "tail": {"text": "bipolar disorder", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "Tumor-specific proteolytic processing of cyclin E generates hyperactive lower-molecular-weight forms.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 41, "end": 49}], "disease": [{"text": "weight", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we show that t-RA treatment dramatically induced type II transglutaminase (type II TGase) expression in cells carrying the t (15; 17) translocation and expressing the PML-RARalpha product such as the APL-derived NB4 cell line and fresh leukemic cells from APL patients.", "output": {"entities": {"gene": [{"text": "TGase", "start": 105, "end": 110}], "disease": [{"text": "translocation", "start": 156, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Restoration of HIC1 function in breast cancer cells leads to a reduction in tumor growth in vivo, an effect that can be partially rescued by co-overexpression of ephrin-A1.", "output": {"entities": {"gene": [{"text": "ephrin-A1", "start": 162, "end": 171}], "disease": [{"text": "breast cancer", "start": 32, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ephrin-A1", "start": 162, "end": 171}, "tail": {"text": "breast cancer", "start": 32, "end": 45}}]}}, "schema": []}
{"input": "In polyclonal tissues, about half the copies of each HUMARA allele are methylated, whereas in cells derived from a single clone all the copies of only one allele are methylated.", "output": {"entities": {"gene": [{"text": "HUMARA", "start": 53, "end": 59}], "disease": [{"text": "all", "start": 60, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of aneuploidy in p53 null PC-3 cells by DN-HSF1 expression was recapitulated by expression within the cells of wild type p53.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 54, "end": 58}], "disease": [{"text": "aneuploidy", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The results suggest the ex vivo use of SLT-1 in purging SLT-1 receptor-expressing malignant cells from autologous stem cell grafts of breast cancer, lymphoma, and myeloma patients.", "output": {"entities": {"gene": [{"text": "SLT", "start": 39, "end": 42}], "disease": [{"text": "myeloma", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Thiadiazole carbamates: potent inhibitors of lysosomal acid lipase and potential Niemann-Pick type C disease therapeutics.", "output": {"entities": {"gene": [{"text": "lysosomal acid lipase", "start": 45, "end": 66}], "disease": [{"text": "Niemann-Pick type C disease", "start": 81, "end": 108}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "lysosomal acid lipase", "start": 45, "end": 66}, "tail": {"text": "Niemann-Pick type C disease", "start": 81, "end": 108}}]}}, "schema": []}
{"input": "The whole population was screened for polymorphisms belonging to genes encoding FII, FV, alpha-fibrinogen, beta-fibrinogen, GP IIb/IIIa, tumor necrosis factor (TNF)-alpha, interleukin 1-beta.", "output": {"entities": {"gene": [{"text": "interleukin 1-beta", "start": 172, "end": 190}], "disease": [{"text": "fibrinogen", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We aimed to determine whether in the aged rat the chronic long-term treatment with sildenafil ameliorates corporal SMC loss and fibrosis, stimulates NOS2A induction, and corrects the associated CVOD.", "output": {"entities": {"gene": [{"text": "SMC", "start": 115, "end": 118}], "disease": [{"text": "fibrosis", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "To find out if Axin is also involved in the pathogenesis of sporadic MBs, we analyzed 86 MBs and 11 MB cell lines for mutations in the AXIN1 gene.", "output": {"entities": {"gene": [{"text": "AXIN1 gene", "start": 135, "end": 145}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The tumor was treated with surgery, chemotherapy, and local radiation, but residual tumor was detected within a year as a well-differentiated peripheral neural tumor lacking detectable EWS/FLI1 expression.", "output": {"entities": {"gene": [{"text": "EWS", "start": 185, "end": 188}], "disease": [{"text": "residual tumor", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Shared clinical features in this group of patients include microcephaly, prenatal onset growth restriction, heart defects, tracheoesophageal fistula, and esophageal atresia (TEF/EA), skeletal anomalies, and moderate to severe global developmental delay.", "output": {"entities": {"gene": [{"text": "TEF", "start": 174, "end": 177}], "disease": [{"text": "microcephaly", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In AML, the recurring t (5; 11) (q35; p15. 5) translocation fuses NSD1 to nucleoporin-98 (NUP98).", "output": {"entities": {"gene": [{"text": "NUP98", "start": 90, "end": 95}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "When all patients were analyzed, the levels of white blood cells, hemoglobin and splenomegaly were significantly different in patients with the JAK2-V617F mutation (p < 0. 05).", "output": {"entities": {"gene": [{"text": "JAK2", "start": 144, "end": 148}], "disease": [{"text": "hemoglobin", "start": 66, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Several autoimmune diseases (AD) are associated with enhanced frequencies of CD5 (+) B cells.", "output": {"entities": {"gene": [{"text": "CD5", "start": 77, "end": 80}], "disease": [{"text": "autoimmune diseases", "start": 8, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We examined the possibility that CCN3 (NOV), another CCN family member with reported biological activities that differ from CCN2, might act as an endogenous negative regulator of ECM and fibrosis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 179, "end": 182}], "disease": [{"text": "fibrosis", "start": 187, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "However, 2-week apelin-13 treatment had no obvious effect on the rats with hyperuricemia.", "output": {"entities": {"gene": [{"text": "apelin", "start": 16, "end": 22}], "disease": [{"text": "hyperuricemia", "start": 75, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "apelin", "start": 16, "end": 22}, "tail": {"text": "hyperuricemia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "Immunohistochemical analysis of 528 samples from patients with CRC showed that elevated expression of Snail or serpinA1 was correlated with advanced stage, lymph node metastasis, and poor prognosis.", "output": {"entities": {"gene": [{"text": "serpinA1", "start": 111, "end": 119}], "disease": [{"text": "lymph node metastasis", "start": 156, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these observations suggest that combination therapy with IGFBP-3 and RXR ligands may have therapeutic potential for prostate cancer treatment.", "output": {"entities": {"gene": [{"text": "IGFBP-3", "start": 73, "end": 80}], "disease": [{"text": "prostate cancer", "start": 132, "end": 147}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGFBP-3", "start": 73, "end": 80}, "tail": {"text": "prostate cancer", "start": 132, "end": 147}}]}}, "schema": []}
{"input": "Transfection of dnHIF-1 alpha completely abrogated hypoxia-induced Ets-1 activity as well as BMP4 expression.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 67, "end": 72}], "disease": [{"text": "hypoxia", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "A multiple linear regression analysis revealed that albuminuria, mean arterial blood pressure, haemoglobin A (1C) and serum cholesterol during follow-up predicted a steeper decline in GFR [R (2) (adjusted) = 0. 27], whereas the PC-1 genotype did not contribute.", "output": {"entities": {"gene": [{"text": "GFR", "start": 184, "end": 187}], "disease": [{"text": "albuminuria", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Because the apoptotic cells were detected mainly in regions distant from blood vessels, it was hypothesized that POMC therapy might render melanoma cells vulnerable to hypoxic insult.", "output": {"entities": {"gene": [{"text": "POMC", "start": 113, "end": 117}], "disease": [{"text": "melanoma", "start": 139, "end": 147}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "POMC", "start": 113, "end": 117}, "tail": {"text": "melanoma", "start": 139, "end": 147}}]}}, "schema": []}
{"input": "Leptin and leptin receptor levels may be used as useful markers of high risk of becoming overweight in ALL survivors, particularly in females treated with CRT.", "output": {"entities": {"gene": [{"text": "CRT", "start": 155, "end": 158}], "disease": [{"text": "overweight", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, either as the result of mutations affecting methionine synthase itself (cblG, caused by mutations in the MTR gene) or affecting the accessory protein methionine synthase reductase (cblE, caused by mutations in the MTRR gene).", "output": {"entities": {"gene": [{"text": "MTR gene", "start": 528, "end": 536}], "disease": [{"text": "glutamate formiminotransferase deficiency", "start": 208, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "In case of multiple/familial meningioma the use of appropriate MRI technique may include GRE and/or susceptibility-weighted imaging (SWI) to rule out CCM.", "output": {"entities": {"gene": [{"text": "SWI", "start": 133, "end": 136}], "disease": [{"text": "familial meningioma", "start": 20, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that neutrophil elastase may contribute to neuronal death in hippocampal CA1 following forebrain ischemia and that neutrophil elastase inhibitor attenuates neuronal death.", "output": {"entities": {"gene": [{"text": "CA1", "start": 93, "end": 96}], "disease": [{"text": "ischemia", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The finding of two DNAaseI hypersensitivity sites (DHSs) mapped in the first intron of the mts1 gene supports this suggestion.", "output": {"entities": {"gene": [{"text": "mts1 gene", "start": 91, "end": 100}], "disease": [{"text": "hypersensitivity", "start": 27, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that a subpopulation of myeloma patients carrying the wild-type C-allele of IL1B C-3737T and non-carriers of the promoter haplotype TGT (-3737 (T),-1464 (G) and-31 (T)) benefit from a better outcome of HDT and INF-α treatment, an effect that may be related to the NF-κB pathway.", "output": {"entities": {"gene": [{"text": "TGT", "start": 153, "end": 156}], "disease": [{"text": "myeloma", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 13, "end": 46}], "disease": [{"text": "aneurysm", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.", "output": {"entities": {"gene": [{"text": "CYP2C8", "start": 93, "end": 99}], "disease": [{"text": "ALL", "start": 52, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP2C8", "start": 93, "end": 99}, "tail": {"text": "ALL", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "Clinicopathological significance of ATM-Chk2 expression in sporadic breast cancers: a comprehensive analysis in large cohorts.", "output": {"entities": {"gene": [{"text": "Chk2", "start": 40, "end": 44}], "disease": [{"text": "sporadic", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Susceptibility to iatrogenic OHSS or its clinical severity may be associated with FSHR polymorphisms with slightly different activities in vivo as suggested by several studies.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 82, "end": 86}], "disease": [{"text": "OHSS", "start": 29, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FSHR", "start": 82, "end": 86}, "tail": {"text": "OHSS", "start": 29, "end": 33}}]}}, "schema": []}
{"input": "APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy.", "output": {"entities": {"gene": [{"text": "APOE", "start": 0, "end": 4}], "disease": [{"text": "lipoprotein glomerulopathy", "start": 47, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APOE", "start": 0, "end": 4}, "tail": {"text": "lipoprotein glomerulopathy", "start": 47, "end": 73}}]}}, "schema": []}
{"input": "In this study, we assessed the pattern of CMV viremia in SPK transplant recipients receiving either antithymocyte globulin (ATG) or anti-CD25 (daclizumab) immunosuppressive induction therapy.", "output": {"entities": {"gene": [{"text": "CD25", "start": 137, "end": 141}], "disease": [{"text": "viremia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "To elucidate disease-associated malformations such as frequent abortions, fetal edema, cystic hygroma, or cardiac defects, we studied Chrna1, Chrnb1, Chrnd, Chrng, and Rapsn in mouse embryos and found expression in skeletal muscles but also in early somite development.", "output": {"entities": {"gene": [{"text": "Chrna1", "start": 134, "end": 140}], "disease": [{"text": "fetal edema", "start": 74, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The main polymorphisms on transporters OCT2, LRP, AQP2, AQP9 and TMEM205 genes were genotyped in 338 lung cancer patients.", "output": {"entities": {"gene": [{"text": "AQP2", "start": 50, "end": 54}], "disease": [{"text": "lung cancer", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Neuronal proliferation and apoptosis were implicated in hydrocephalus, and we observed significantly reduced neuronal proliferation and massively increased neuronal apoptosis in the developing cortex and SCO of Tg embryos, while neurite outgrowth and neuronal migration in vitro remain uncompromised.", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 251, "end": 269}], "disease": [{"text": "hydrocephalus", "start": 56, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Osteoprotegerin deficiency could explain juvenile Paget' s disease because osteoprotegerin suppresses bone turnover by functioning as a decoy receptor for osteoclast differentiation factor (also called RANK ligand).", "output": {"entities": {"gene": [{"text": "Osteoprotegerin", "start": 0, "end": 15}], "disease": [{"text": "juvenile Paget' s disease", "start": 41, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Osteoprotegerin", "start": 0, "end": 15}, "tail": {"text": "juvenile Paget' s disease", "start": 41, "end": 66}}]}}, "schema": []}
{"input": "Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate.", "output": {"entities": {"gene": [{"text": "KIF7", "start": 28, "end": 32}], "disease": [{"text": "acrocallosal syndromes", "start": 71, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF7", "start": 28, "end": 32}, "tail": {"text": "acrocallosal syndromes", "start": 71, "end": 93}}]}}, "schema": []}
{"input": "Our findings indicate that increased receptor stability and sustained FGFR-4 signaling occur in most human prostate cancers due to either the presence of a common genetic polymorphism or the expression of a protein that stabilizes FGFR-4.", "output": {"entities": {"gene": [{"text": "FGFR-4", "start": 70, "end": 76}], "disease": [{"text": "prostate cancers", "start": 107, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR-4", "start": 70, "end": 76}, "tail": {"text": "prostate cancers", "start": 107, "end": 123}}]}}, "schema": []}
{"input": "The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human.", "output": {"entities": {"gene": [{"text": "PKD1L1", "start": 105, "end": 111}], "disease": [{"text": "polycystic kidney disease 1", "start": 66, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells, and which impairs immune cell homeostasis, thereby promoting MIA-CID development.", "output": {"entities": {"gene": [{"text": "TTC7A", "start": 23, "end": 28}], "disease": [{"text": "MIA", "start": 228, "end": 231}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTC7A", "start": 23, "end": 28}, "tail": {"text": "MIA", "start": 228, "end": 231}}]}}, "schema": []}
{"input": "Overexpression of PAR-1 in atypical nevi and melanomas supports.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 18, "end": 23}], "disease": [{"text": "atypical nevi", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.", "output": {"entities": {"gene": [{"text": "apolipoprotein-C3", "start": 194, "end": 211}], "disease": [{"text": "lung tumor", "start": 123, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein-C3", "start": 194, "end": 211}, "tail": {"text": "lung tumor", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "TNDM1 is not associated with mutation of PLAGL1 or HYMAI, but rather with their overexpression via uniparental disomy, chromosome duplication, or relaxation of imprinting.", "output": {"entities": {"gene": [{"text": "HYMAI", "start": 51, "end": 56}], "disease": [{"text": "uniparental disomy", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We present a dialysis patient who developed tumoral calcinosis over the right shoulder after receiving a misplaced injection of human recombinant erythropoietin probably into the periarticular tissue.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 146, "end": 160}], "disease": [{"text": "tumoral calcinosis", "start": 44, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "erythropoietin", "start": 146, "end": 160}, "tail": {"text": "tumoral calcinosis", "start": 44, "end": 62}}]}}, "schema": []}
{"input": "In 20 samples of corresponding non-neoplastic mucosa, no DNA methylation of the CHFR gene was detected.", "output": {"entities": {"gene": [{"text": "CHFR gene", "start": 80, "end": 89}], "disease": [{"text": "non-neoplastic", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "E3/2 and E4/4 genotype frequencies were higher in patients with hyperlipidemia PST.", "output": {"entities": {"gene": [{"text": "PST", "start": 79, "end": 82}], "disease": [{"text": "hyperlipidemia", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Hematologically common to these patients were marked marrow erythroid hyperplasia and severely abnormal erythropoiesis despite normal serum B12 and folate levels.", "output": {"entities": {"gene": [{"text": "B12", "start": 140, "end": 143}], "disease": [{"text": "hyperplasia", "start": 70, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "To compare the cytoplasmic and nuclear poly (ADP-ribose) expression between familial (BRCA1, BRCA2, or non BRCA1/2) and sporadic breast cancer, we investigated 39 sporadic and 39 familial breast cancer cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 93, "end": 98}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits.", "output": {"entities": {"gene": [{"text": "vesicular monoamine transporter 1", "start": 37, "end": 70}], "disease": [{"text": "personality traits", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Mutations of K-ras at exon 1 and p53 at exons 5, 6, 7 and 8 were analyzed in 43 cases of sporadic colorectal carcinoma.", "output": {"entities": {"gene": [{"text": "p53", "start": 33, "end": 36}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Using Cox regression in this cohort, we evaluated subtype-specific associations between family history and risk of triple-negative (N = 705), estrogen receptor-positive (ER +, N = 10, 026), and hormone receptor-negative/HER2-expressing (ER-/PR-/HER2 +, N = 308) breast cancer among women aged 40-84 years.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 142, "end": 159}], "disease": [{"text": "regression", "start": 10, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "There were no differences in HbA1c, GFR, or albuminuria in the overall group.", "output": {"entities": {"gene": [{"text": "GFR", "start": 36, "end": 39}], "disease": [{"text": "albuminuria", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We identified genetic variants of 5-HT (2A) and 5-HT (2C) receptors, the G-protein beta-3 subunit, and the adrenergic receptor beta-3, as genetic risk factors for olanzapine-induced weight gain, and they showed additive genetic effects on weight gain.", "output": {"entities": {"gene": [{"text": "beta-3", "start": 83, "end": 89}], "disease": [{"text": "weight gain", "start": 182, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "ROS-induced oxidative DNA damage in LSCs caused clinically relevant genomic instability in CML-CP-like mice, such as TKI-resistant BCR-ABL1 mutations (E255K, T315I, H396P), deletions in Ikzf1 and Trp53, and additions in Zfp423 and Idh1.", "output": {"entities": {"gene": [{"text": "BCR", "start": 131, "end": 134}], "disease": [{"text": "genomic instability", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Prevalence, clinico-pathological value, and co-occurrence of PDGFRA abnormalities in diffuse gliomas.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 61, "end": 67}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Querying the REepository of Molecular BRAin Neoplasia DaTa (REMBRANDT), an annotated patient gene database maintained by the National Cancer Institute, we identified the intermediate conductance Ca (2 +)-activated K (+) channels, KCa3. 1, being overexpressed in 32% of glioma patients where protein expression significantly correlated with poor patient survival.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 230, "end": 237}], "disease": [{"text": "glioma", "start": 269, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "To sort the temporal and spatial regulation of EGF-dependent cytoskeletal re-organization in relation to a cell' s motile behavior time-lapse microscopy was performed on EGF-responsive gastric carcinoma-derived MKN1 cells co-expressing different fluorescently labeled cytoskeletal filaments and focal adhesion components in various combinations.", "output": {"entities": {"gene": [{"text": "cell' s", "start": 107, "end": 114}], "disease": [{"text": "gastric carcinoma", "start": 185, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.", "output": {"entities": {"gene": [{"text": "SLC34A3", "start": 122, "end": 129}], "disease": [{"text": "Hereditary hypophosphatemic rickets with hypercalciuria", "start": 0, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC34A3", "start": 122, "end": 129}, "tail": {"text": "Hereditary hypophosphatemic rickets with hypercalciuria", "start": 0, "end": 55}}]}}, "schema": []}
{"input": "SICs overexpress the neoplasia-related genes NAP1L1 (mitotic regulation), MAGE-D2 (adhesion), and MTA1 (estrogen antagonism).", "output": {"entities": {"gene": [{"text": "MTA1", "start": 98, "end": 102}], "disease": [{"text": "adhesion", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "This study was to explore the distribution pattern, kinetic delivery of adenovirus, and therapeutic efficacy of the MSC loading of E1A mutant conditionally replicative adenovirus Adv-Stat3 (-) which selectively replicated and expressed high levels of anti-sense Stat3 complementary DNA in breast cancer and melanoma cells.", "output": {"entities": {"gene": [{"text": "MSC", "start": 116, "end": 119}], "disease": [{"text": "adenovirus", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.", "output": {"entities": {"gene": [{"text": "ABHD12", "start": 85, "end": 91}], "disease": [{"text": "PHARC", "start": 115, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABHD12", "start": 85, "end": 91}, "tail": {"text": "PHARC", "start": 115, "end": 120}}]}}, "schema": []}
{"input": "The CD5 (+), IgM (+), B220 (dim), hyperdiploid LPD was linked to 3 loci on chromosomes 14, 18, and 19 that are distinct from previously identified autoimmunity-associated loci.", "output": {"entities": {"gene": [{"text": "CD5", "start": 4, "end": 7}], "disease": [{"text": "autoimmunity", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Using candidate genes in the 5q22-q32 interval, we investigated the possibility that mutations in the SPARC or LOX genes cause these corneal diseases.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 102, "end": 107}], "disease": [{"text": "corneal diseases", "start": 133, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The pathogenesis of progressive spastic paraparesis [HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP)], a serious consequence of human T-cell leukemia virus type I (HTLV-I) infection, is unclear.", "output": {"entities": {"gene": [{"text": "TSP", "start": 116, "end": 119}], "disease": [{"text": "progressive spastic paraparesis", "start": 20, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t (1; 5) (q42; q32) translocation as the sole chromosomal abnormality.", "output": {"entities": {"gene": [{"text": "CDX1", "start": 176, "end": 180}], "disease": [{"text": "chromosomal abnormality", "start": 255, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.", "output": {"entities": {"gene": [{"text": "MPV17", "start": 69, "end": 74}], "disease": [{"text": "liver dysfunction", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Lymphedema-distichiasis syndrome and FOXC2 gene mutation.", "output": {"entities": {"gene": [{"text": "FOXC2", "start": 37, "end": 42}], "disease": [{"text": "Lymphedema-distichiasis syndrome", "start": 0, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXC2", "start": 37, "end": 42}, "tail": {"text": "Lymphedema-distichiasis syndrome", "start": 0, "end": 32}}]}}, "schema": []}
{"input": "These results implicate a tissue degeneration triggered by Nav1. 5 deficiency manifesting as a TGF-β (1)-mediated fibrosis accompanied by electric remodeling in the sinus node dysfunction associated with Scn5a disruption or aging.", "output": {"entities": {"gene": [{"text": "Scn5a", "start": 204, "end": 209}], "disease": [{"text": "fibrosis", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The human small cell (oat cell) carcinoma line, SHP-77, established by Fisher and Paulson in 1977 and originally described as a \" large cell variant of oat cell cancer \" has been evaluated by several different parameters and shown even after more than 200 passages to retain properties described for the original cell line.", "output": {"entities": {"gene": [{"text": "SHP", "start": 48, "end": 51}], "disease": [{"text": "carcinoma", "start": 32, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We aimed to evaluate the relationship between 174 promoter region of the interleukin-6 (IL-6) C/G gene polymorphism and high sensitive C-reactive protein (hs-CRP), fibrinogen and carotis intima-media thickness (CIMT), body mass index, homeostatic model assessment (HOMA) insulin resistance index, serum lipid parameters, in polycystic ovary syndrome (PCOS) patients carrying a potential risk for developing cardiovascular disease (CVD).", "output": {"entities": {"gene": [{"text": "CRP", "start": 158, "end": 161}], "disease": [{"text": "insulin resistance", "start": 271, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Chronic dietary menthol blunted mesenteric arterial constriction and lowered blood pressure in genetic hypertensive rats via inhibition of RhoA/Rho kinase expression and activity in the vivo study.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 144, "end": 154}], "disease": [{"text": "blood pressure", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia.", "output": {"entities": {"gene": [{"text": "CACNG5", "start": 16, "end": 22}], "disease": [{"text": "schizophrenia", "start": 214, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNG5", "start": 16, "end": 22}, "tail": {"text": "schizophrenia", "start": 214, "end": 227}}]}}, "schema": []}
{"input": "As for the signalling pathway, TNF-alpha stimulation led to the phosphorylation of extracellular signal-regulated kinase 1/2 (Erk1/2) and p38 mitogen-activated protein kinase (p38MAPK) and translocation of nuclear factor kappaB (NF-kappaB) (p65) into the nuclei.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 31, "end": 40}], "disease": [{"text": "translocation", "start": 189, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we provide evidence that the epigenomic proteins BRD3/4 and WHSC1 are essential regulators of estrogen receptor signaling and are novel therapeutic targets for treatment of Tam-R breast cancer.", "output": {"entities": {"gene": [{"text": "WHSC1", "start": 76, "end": 81}], "disease": [{"text": "breast cancer", "start": 195, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WHSC1", "start": 76, "end": 81}, "tail": {"text": "breast cancer", "start": 195, "end": 208}}]}}, "schema": []}
{"input": "Thus, the downregulation of TAP1 and LMP2 proteins by sterigmatocystin may directly affect tumor immunity by allowing transformed cells to escape the host immune surveillance, thereby promoting esophageal cancer.", "output": {"entities": {"gene": [{"text": "LMP2", "start": 37, "end": 41}], "disease": [{"text": "tumor immunity", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "These results indicate cyclin A2 to be involved in the acquisition of aggressive behaviour of tumour cells through the activation of PI3K by cyclin A2-induced periplakin, and to be a promising therapeutic target.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 133, "end": 137}], "disease": [{"text": "aggressive behaviour", "start": 70, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we suggest that the deletion of the CDH1, a tumor suppressor gene, involved in hereditary diffuse gastric cancer (HDGC) and LBC predisposed the mother to the carcinoma.", "output": {"entities": {"gene": [{"text": "LBC", "start": 137, "end": 140}], "disease": [{"text": "carcinoma", "start": 171, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "With ANOVA, AVI/AVI homozygotes reported higher alcohol use than either PAV/AVI heterozygotes or PAV/PAV homozygotes.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 5, "end": 10}], "disease": [{"text": "alcohol use", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In the logistic regression analysis, adjusted for age and smoking, NAT2 slow phenotype was significantly associated with the severity of bone loss, the odds ratio being 2. 09 (95% C. I.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 67, "end": 71}], "disease": [{"text": "smoking", "start": 58, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Role of CYB5A in pancreatic cancer prognosis and autophagy modulation.", "output": {"entities": {"gene": [{"text": "CYB5A", "start": 8, "end": 13}], "disease": [{"text": "pancreatic cancer", "start": 17, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 43, "end": 48}], "disease": [{"text": "sporadic", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Twenty-four-hour DBP, 24-h MBP, LVM, LVM: height ratio, total cholesterol and PRA values were significantly higher in normotensive obese offspring of hypertensive parents than in obese offspring of normotensive parents.", "output": {"entities": {"gene": [{"text": "DBP", "start": 17, "end": 20}], "disease": [{"text": "height", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of PDK1 occurred uniformly throughout the leukemic population, including putative leukemia-initiating cells.", "output": {"entities": {"gene": [{"text": "PDK1", "start": 18, "end": 22}], "disease": [{"text": "leukemia", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "A significant negative correlation was observed between the percentage of Dlco and MCP-1 and MIP-1 alpha levels in BAL fluid in patients with PF (r =-0. 65, p = 0. 003; r =-0. 48, p = 0. 04; respectively).", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 83, "end": 88}], "disease": [{"text": "PF", "start": 142, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCP-1", "start": 83, "end": 88}, "tail": {"text": "PF", "start": 142, "end": 144}}]}}, "schema": []}
{"input": "EXPERIMENTAL BACKGROUND: In 64 patients with HCC, 20 with liver cirrhosis, 20 with chronic hepatitis, and 50 healthy individuals, we measured serum hTERT mRNA by using the newly developed real-time quantitative reverse transcription-PCR with SYBR Green I.", "output": {"entities": {"gene": [{"text": "HCC", "start": 45, "end": 48}], "disease": [{"text": "chronic hepatitis", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We conclude that neither the SCLL phenotype nor blood eosinophilia is a consistent feature of FGFR1-associated 8p11. 2 translocations; conversely, FISH might not always reveal FGFR1 involvement in typical SCLL.", "output": {"entities": {"gene": [{"text": "FISH", "start": 147, "end": 151}], "disease": [{"text": "eosinophilia", "start": 54, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Elevated levels of Gremlin, Jagged1 and Hes1 were also detected in extracts from renal biopsies from diabetic nephropathy patients, but not in control living donors.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 40, "end": 44}], "disease": [{"text": "diabetic nephropathy", "start": 101, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 71, "end": 76}], "disease": [{"text": "major depression", "start": 95, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTRK2", "start": 71, "end": 76}, "tail": {"text": "major depression", "start": 95, "end": 111}}]}}, "schema": []}
{"input": "Compared with noncarriers of the aldose reductase z-2 allele (n = 92) and z-2 heterozygotes (n = 77), z-2 homozygotes (n = 17) had elevated plasma creatinine (164. 1 +/-73. 7 vs. 190. 6 +/-60. 9 vs. 241. 1 +/-86. 2 micromol/l; P < 0. 001) and an increased risk of classic diabetic glomerulopathy (OR 1 vs. 0. 9 vs. 3. 3; P = 0. 026).", "output": {"entities": {"gene": [{"text": "aldose reductase", "start": 33, "end": 49}], "disease": [{"text": "diabetic glomerulopathy", "start": 272, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a differential contribution of BRCA1 and BRCA2 in the pathogenesis of sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 63, "end": 68}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that the IFIH1 mutations are responsible for the AGS phenotype due to an excessive production of type I interferon.", "output": {"entities": {"gene": [{"text": "IFIH1", "start": 29, "end": 34}], "disease": [{"text": "AGS", "start": 69, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFIH1", "start": 29, "end": 34}, "tail": {"text": "AGS", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "Furthermore, an inverse relationship was observed between miR-29a and p42. 3 expression in gastric cancer cell lines and GC tissue samples, especially in cases where p42. 3 was downregulated.", "output": {"entities": {"gene": [{"text": "p42. 3", "start": 166, "end": 172}], "disease": [{"text": "gastric cancer", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested whether increased expression of the chromosome 21 gene RCAN1 contributes to immune dysregulation.", "output": {"entities": {"gene": [{"text": "RCAN1", "start": 80, "end": 85}], "disease": [{"text": "immune dysregulation", "start": 101, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "More than 20 mutations in the gene encoding for the ryanodine receptor (RYR1), a Ca2 + release channel of the skeletal muscle sarcoplasmic reticulum, have been found to be associated with malignant hyperthermia (MH).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 81, "end": 84}], "disease": [{"text": "malignant hyperthermia", "start": 188, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "In cDNA clones from a human gastric adenocarcinoma cDNA library, we have identified two new exons (designated 2a and 2b) between exons 2 and 3 in the 5'-UTR of the gene.", "output": {"entities": {"gene": [{"text": "UTR", "start": 153, "end": 156}], "disease": [{"text": "gastric adenocarcinoma", "start": 28, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Of these cases, there were 21 with acute nonlymphocytic leukemia (ANLL), 5 with acute lymphocytic leukemia (ALL), 6 with chronic myelocytic leukemia (CML), 2 with Hodgkin' s disease (HD), 8 with severe-form aplastic anemia (SAA) and 1 with thalassemia.", "output": {"entities": {"gene": [{"text": "SAA", "start": 224, "end": 227}], "disease": [{"text": "aplastic anemia", "start": 207, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Our findings in the current HER2-related study indicate that incidentally detected cancer has features of less aggressiveness than clinically detected cancer.", "output": {"entities": {"gene": [{"text": "HER2", "start": 28, "end": 32}], "disease": [{"text": "aggressiveness", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Although the evidence of an association between the MUC5B genotype and interstitial lung abnormalities was greater among participants who were older than 50 years of age, a history of cigarette smoking did not appear to influence the association.", "output": {"entities": {"gene": [{"text": "MUC5B", "start": 52, "end": 57}], "disease": [{"text": "abnormalities", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Double-knockouts lived 47% longer, mice with 50% DDR1 lived 29% longer and showed improved renal function (reduction in proteinuria and blood urea nitrogen) compared to animals with 100% DDR1 expression.", "output": {"entities": {"gene": [{"text": "DDR1", "start": 49, "end": 53}], "disease": [{"text": "proteinuria", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of KLF13 and FGFR3 in oral cancer cells.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 28, "end": 33}], "disease": [{"text": "oral cancer", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Thirty-six patients with serious bleeding complications had higher prothrombin time international normalised ratios than 189 warfarin-treated patients without serious bleeding, but there were no significant differences in CYP2C9, CYP3A5 or ABCB1 genotypes and allelic variants.", "output": {"entities": {"gene": [{"text": "ABCB1", "start": 240, "end": 245}], "disease": [{"text": "bleeding", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "In transient transfection assays, introduction of dominant-negative constructs for both MKK7 and SEK1 abolished hypoxia-induced AP-1 activation.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 128, "end": 132}], "disease": [{"text": "hypoxia", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the population of HIV p24-specific CD4 T cells is initially responsive to changes in the levels of viral Ags, but that the majority of these cells are lost in a setting of chronic viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 52, "end": 55}], "disease": [{"text": "viremia", "start": 197, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, elevated HSP70 expression was predictive of a period of survival between cocaine use and death that included medical and/or police intervention.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 22, "end": 27}], "disease": [{"text": "cocaine use", "start": 86, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSP70", "start": 22, "end": 27}, "tail": {"text": "cocaine use", "start": 86, "end": 97}}]}}, "schema": []}
{"input": "One mutation, SCN2A-E1211K, was identified in a patient with sporadic infantile spasms.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 14, "end": 19}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Human beta-galactosidase gene mutations in morquio B disease.", "output": {"entities": {"gene": [{"text": "beta-galactosidase", "start": 6, "end": 24}], "disease": [{"text": "morquio B disease", "start": 43, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-galactosidase", "start": 6, "end": 24}, "tail": {"text": "morquio B disease", "start": 43, "end": 60}}]}}, "schema": []}
{"input": "The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration.", "output": {"entities": {"gene": [{"text": "CRB1", "start": 70, "end": 74}], "disease": [{"text": "RP12", "start": 43, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRB1", "start": 70, "end": 74}, "tail": {"text": "RP12", "start": 43, "end": 47}}]}}, "schema": []}
{"input": "FATE/BJ-HCC-2 is a newly identified cancer/testis (CT) antigen, which was detected in tumor tissues and testis.", "output": {"entities": {"gene": [{"text": "HCC-2", "start": 8, "end": 13}], "disease": [{"text": "tumor", "start": 86, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Higher 5-HT1A receptor binding potential during a major depressive episode predicts poor treatment response: preliminary data from a naturalistic study.", "output": {"entities": {"gene": [{"text": "5-HT1A receptor", "start": 7, "end": 22}], "disease": [{"text": "major depressive episode", "start": 50, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT1A receptor", "start": 7, "end": 22}, "tail": {"text": "major depressive episode", "start": 50, "end": 74}}]}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "PSD-95", "start": 63, "end": 69}], "disease": [{"text": "major depression", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-95", "start": 63, "end": 69}, "tail": {"text": "major depression", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "Stress-induced regulation of H19 expression by hypoxic signaling and inflammation suggests that lncRNA H19 acts as a metabolic correlate in cartilage and cultured chondrocytes, while the miR-675 may indirectly influence COL2A1 levels.", "output": {"entities": {"gene": [{"text": "H19", "start": 29, "end": 32}], "disease": [{"text": "inflammation", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "This enzyme catalyzes the sixth step of the heme biosynthetic pathway, and mutations in the CPO gene have been coupled to HCP.", "output": {"entities": {"gene": [{"text": "CPO", "start": 92, "end": 95}], "disease": [{"text": "HCP", "start": 122, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CPO", "start": 92, "end": 95}, "tail": {"text": "HCP", "start": 122, "end": 125}}]}}, "schema": []}
{"input": "The AURKA/TPX2 axis drives colon tumorigenesis cooperatively with MYC.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 4, "end": 9}], "disease": [{"text": "tumorigenesis", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009).", "output": {"entities": {"gene": [{"text": "MIM", "start": 194, "end": 197}], "disease": [{"text": "hypercalciuria", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 211, "end": 215}], "disease": [{"text": "Fragile-X syndrome", "start": 87, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 211, "end": 215}, "tail": {"text": "Fragile-X syndrome", "start": 87, "end": 105}}]}}, "schema": []}
{"input": "Using multiple molecular strategies, it was demonstrated that (i) ERG expressed in TMPRSS2-ERG fusion positive VCaP cells selectively binds to specific ERG/Ets bindings sites in the CXCR4 promoter; (ii) distal binding sites mediate promoter activation; (iii) exogenously expressed ERG promotes CXCR4 expression; (iv) ERG is phosphorylated at Serine-81 and-215, by both IKK and Akt kinases, and Akt mediates CXCR4 expression; (v) ERG-induced CXCR4 drives CXCL12-dependent adhesion to fibronectin; and (vi) ERG and CXCR4 were coexpressed in human prostate cancer tissue, consistent with ERG-mediated transcriptional activation of CXCR4.", "output": {"entities": {"gene": [{"text": "ERG", "start": 66, "end": 69}], "disease": [{"text": "adhesion", "start": 471, "end": 479}]}, "relations": {}}, "schema": []}
{"input": "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.", "output": {"entities": {"gene": [{"text": "SLC26A3", "start": 90, "end": 97}], "disease": [{"text": "congenital chloride diarrhea", "start": 109, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A3", "start": 90, "end": 97}, "tail": {"text": "congenital chloride diarrhea", "start": 109, "end": 137}}]}}, "schema": []}
{"input": "Based on these observations, we propose a model of an autocrine/paracrine RAS in polycystic kidney disease, whereby overactivity of the intrarenal system results in sustained increases in intratubular ANG II concentrations.", "output": {"entities": {"gene": [{"text": "ANG", "start": 201, "end": 204}], "disease": [{"text": "polycystic kidney disease", "start": 81, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Although the role of the breast cancer gene 2 (BRCA2) tumor suppressor gene is well established in inherited breast and ovarian carcinomas, its involvement in sporadic disease is still uncertain.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 47, "end": 52}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Thus, genetic analysis of the SH2D1A gene is particularly useful in the diagnosis of sporadic cases and carriers of XLP. (Blood. 2001; 98: 1268-1270)", "output": {"entities": {"gene": [{"text": "SH2D1A", "start": 30, "end": 36}], "disease": [{"text": "XLP", "start": 116, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH2D1A", "start": 30, "end": 36}, "tail": {"text": "XLP", "start": 116, "end": 119}}]}}, "schema": []}
{"input": "Recently, circulating microRNAs (miRNAs) such as miR-122 and miR-192 have emerged as promising biomarkers of liver injury in preclinical species and in DILI patients.", "output": {"entities": {"gene": [{"text": "miR-192", "start": 61, "end": 68}], "disease": [{"text": "DILI", "start": 152, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-192", "start": 61, "end": 68}, "tail": {"text": "DILI", "start": 152, "end": 156}}]}}, "schema": []}
{"input": "In this study, we show that embigin is transcriptionally regulated by Homeobox C8 (HOXC8) in breast cancer cells and embigin expression suppresses breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "HOXC8", "start": 83, "end": 88}], "disease": [{"text": "tumorigenesis", "start": 154, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In addition we performed an expression analysis of golli-MBP mRNA in post-mortem dorsolateral prefrontal cortex samples of schizophrenia patients, and matched controls.", "output": {"entities": {"gene": [{"text": "golli-MBP", "start": 51, "end": 60}], "disease": [{"text": "schizophrenia", "start": 123, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "golli-MBP", "start": 51, "end": 60}, "tail": {"text": "schizophrenia", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "Interestingly, 24% of the cases were translocation negative, and did not contain rearrangements of EWSR1 or FUS by FISH.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 99, "end": 104}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA).", "output": {"entities": {"gene": [{"text": "EVA", "start": 150, "end": 153}], "disease": [{"text": "enlargement", "start": 110, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In Caucasians, LEP SNPs also tended to be associated with weight (p = 0. 0471), and PYY rs11684664 was associated with obesity-related phenotypes in women only (p = 0. 010-0. 026).", "output": {"entities": {"gene": [{"text": "LEP", "start": 15, "end": 18}], "disease": [{"text": "weight", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Potassium voltage-gated channel shaker-related subfamily member 5 (KCNA5) is implicated in vascular tone regulation, and its inhibition during hypoxia produces pulmonary vasoconstriction.", "output": {"entities": {"gene": [{"text": "KCNA5", "start": 67, "end": 72}], "disease": [{"text": "hypoxia", "start": 143, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Hepatitis C virus core protein epigenetically silences SFRP1 and enhances HCC aggressiveness by inducing epithelial-mesenchymal transition.", "output": {"entities": {"gene": [{"text": "HCC", "start": 74, "end": 77}], "disease": [{"text": "aggressiveness", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The spectrum of GS mutations is wide making full mutation screening of the SLC12A3 gene necessary to confirm the diagnosis.", "output": {"entities": {"gene": [{"text": "SLC12A3", "start": 75, "end": 82}], "disease": [{"text": "GS", "start": 16, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC12A3", "start": 75, "end": 82}, "tail": {"text": "GS", "start": 16, "end": 18}}]}}, "schema": []}
{"input": "The t (14; 19) (q32; q13) is a recurring translocation found in some patients with chronic lymphocytic leukemia (CLL), and the t (14; 19) juxtaposes the BCL3 gene on chromosome 19 with the immunoglobulin heavy chain gene (IGH) locus on chromosome 14.", "output": {"entities": {"gene": [{"text": "BCL3 gene", "start": 153, "end": 162}], "disease": [{"text": "translocation", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "We conclude that exogenous E2 administered to male mice may block human IAPP-mediated beta-cell loss both by direct action on beta-cells and by decreasing insulin demand through inhibition of weight gain or increasing insulin action.", "output": {"entities": {"gene": [{"text": "IAPP", "start": 72, "end": 76}], "disease": [{"text": "weight gain", "start": 192, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "DNA-binding studies and chromatin immunoprecipitation assays using hippocampal extracts from animals with status epilepticus revealed that NF-kappaB subunits were associated with the candidate kappaB-binding elements within promoter 1 of the bdnf gene.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 139, "end": 148}], "disease": [{"text": "status epilepticus", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In this report, the effect of SDF-1α or MIF was studied on cell cycle, cell proliferation, adhesion and migration of the CXCR4-expressing colon cancer cell line SW480.", "output": {"entities": {"gene": [{"text": "MIF", "start": 40, "end": 43}], "disease": [{"text": "adhesion", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "CSF amyloid-β1-42 and tau concentrations and a memory composite score were used to classify participants as normal (both markers normal), preclinical Alzheimer' s disease stage 1-3, or suspected non-Alzheimer pathophysiology (SNAP, abnormal injury marker without abnormal amyloid marker).", "output": {"entities": {"gene": [{"text": "SNAP", "start": 226, "end": 230}], "disease": [{"text": "amyloid", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that Hsp27 inhibits the release of Smac, and thereby confers Dex resistance in MM cells.", "output": {"entities": {"gene": [{"text": "Hsp27", "start": 28, "end": 33}], "disease": [{"text": "MM", "start": 102, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hsp27", "start": 28, "end": 33}, "tail": {"text": "MM", "start": 102, "end": 104}}]}}, "schema": []}
{"input": "These results provide primary evidence that KISS1 and KISS1R expression can be differentially lost in pituitary tumor subtypes, where this system can exert functional, proapoptotic actions, and thereby offer novel insights to investigate the biology and therapeutic options to treat these tumors.", "output": {"entities": {"gene": [{"text": "KISS1R", "start": 54, "end": 60}], "disease": [{"text": "pituitary tumor", "start": 102, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "AIM: To investigate the expression of myofibrillogenesis regulator-1 (MR-1) in relation to clinicopathological parameters and postoperative survival in a group of Chinese patients with gastric cancer.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 70, "end": 74}], "disease": [{"text": "gastric cancer", "start": 185, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "FLG mutations R501X, 2282del4 and R2447X were genotyped in the Prevention and Incidence of Asthma and Mite Allergy birth cohort (n = 934) to evaluate longitudinally, for up to 8 years, their association with eczema, sensitization, asthma, hay fever and their interaction with cat exposure.", "output": {"entities": {"gene": [{"text": "FLG", "start": 0, "end": 3}], "disease": [{"text": "hay fever", "start": 239, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Inhibition by specific PLB1 antibodies, or inhibitors of phospholipase B (PLB), but not lysophospholipase (LPL) or lysophospholipase transacylase (LPTA) activities decreased the adhesion of H99 and deltaplb1rec by 33-58%.", "output": {"entities": {"gene": [{"text": "LPL", "start": 107, "end": 110}], "disease": [{"text": "adhesion", "start": 178, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "MCP-3", "start": 204, "end": 209}], "disease": [{"text": "MM", "start": 160, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCP-3", "start": 204, "end": 209}, "tail": {"text": "MM", "start": 160, "end": 162}}]}}, "schema": []}
{"input": "The DNA damage response (DDR) that evolved to repair host cell DNA damage also recognizes viral DNA entering the nucleus during infections.", "output": {"entities": {"gene": [{"text": "DDR", "start": 25, "end": 28}], "disease": [{"text": "infections", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Tissue microarray containing 117 samples of gastric cancer and adjacent non-cancer normal tissues was studied for MIF expression by immunohistochemistry (IHC) semiquantitatively, and the association of MIF expression with clinical parameters was analyzed.", "output": {"entities": {"gene": [{"text": "MIF", "start": 114, "end": 117}], "disease": [{"text": "gastric cancer", "start": 44, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance.", "output": {"entities": {"gene": [{"text": "MIM", "start": 42, "end": 45}], "disease": [{"text": "developmental disorder", "start": 113, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "ALAD genotype was determined for 94% of these samples (355 glioma, 151 meningioma, 67 acoustic neuroma, and 505 controls).", "output": {"entities": {"gene": [{"text": "ALAD", "start": 0, "end": 4}], "disease": [{"text": "meningioma", "start": 71, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALAD", "start": 0, "end": 4}, "tail": {"text": "meningioma", "start": 71, "end": 81}}]}}, "schema": []}
{"input": "Given these results and reports of immune dysregulation associated with trauma history, we compared plasma cytokine levels in these subjects and found IL4, IL2, and TNFα levels associated with PTSD, child abuse, and TLS.", "output": {"entities": {"gene": [{"text": "TLS", "start": 216, "end": 219}], "disease": [{"text": "immune dysregulation", "start": 35, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Somatostatin-producing neuroendocrine tumors (SOM-NETs) of the duodenum and pancreas appear to be heterogeneous.", "output": {"entities": {"gene": [{"text": "SOM", "start": 46, "end": 49}], "disease": [{"text": "neuroendocrine tumors", "start": 23, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to compare peripheral immune cells from obese and normal-weight women with regard to composition of immune cell subpopulations, surface expression of the chemokine receptors (CCRs) CCR2, CCR3, CCR5, and CXCR3 (chemokine (C-X-C motif) receptor 3) and cell-intrinsic migration capacity.", "output": {"entities": {"gene": [{"text": "CCR3", "start": 212, "end": 216}], "disease": [{"text": "obese", "start": 65, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "A 4-year-old girl was referred for evaluation for a mild but persistent serum aspartate aminotransferase (AST) elevation detected incidentally during routine blood screening for a skin infection.", "output": {"entities": {"gene": [{"text": "AST", "start": 106, "end": 109}], "disease": [{"text": "mild", "start": 52, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "STOX1: Key player in trophoblast dysfunction underlying early onset preeclampsia with growth retardation.", "output": {"entities": {"gene": [{"text": "STOX1", "start": 0, "end": 5}], "disease": [{"text": "preeclampsia", "start": 68, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STOX1", "start": 0, "end": 5}, "tail": {"text": "preeclampsia", "start": 68, "end": 80}}]}}, "schema": []}
{"input": "In contrast, two sibling XPG patients without CS are able to make full-length XPG, but with a missense mutation that inactivates its function in NER.", "output": {"entities": {"gene": [{"text": "XPG", "start": 25, "end": 28}], "disease": [{"text": "XPG", "start": 78, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XPG", "start": 25, "end": 28}, "tail": {"text": "XPG", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "GISTs are characterized by abnormalities of the KIT and PDGFRA receptors that affect prognosis and response to tyrosine kinase inhibitors.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 56, "end": 62}], "disease": [{"text": "abnormalities", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Suppression of neovascularization through reduction of vascular endothelial growth factor and inhibition of tumor cell cycling is modulated mainly through activation of CRFR2.", "output": {"entities": {"gene": [{"text": "CRFR2", "start": 169, "end": 174}], "disease": [{"text": "neovascularization", "start": 15, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "PDE10A has been implicated in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "PDE10A", "start": 0, "end": 6}], "disease": [{"text": "psychosis", "start": 53, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE10A", "start": 0, "end": 6}, "tail": {"text": "psychosis", "start": 53, "end": 62}}]}}, "schema": []}
{"input": "Mutations in the p63 gene have been identified in five human disorders characterized by varying degrees of limb anomalies, ectodermal dysplasia, and facial clefts.", "output": {"entities": {"gene": [{"text": "p63", "start": 17, "end": 20}], "disease": [{"text": "facial clefts", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this review is to discuss current advances in our understanding of the function of the GRO-α/CXCR2 system and related clinical implications associated with autoimmune diseases, such as primary Sjogren' s syndrome (pSjS).", "output": {"entities": {"gene": [{"text": "CXCR2", "start": 108, "end": 113}], "disease": [{"text": "autoimmune diseases", "start": 171, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The data showed that in the Italian population, FSHR genotypes have no influence on FSH concentrations both in normal and infertile males and do not associate with spermatogenetic impairment.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 48, "end": 52}], "disease": [{"text": "infertile", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Western blot analysis of kidney tumors formed following treatment of Tsc-2 (EK/+) rats with TGHQ for 8 months revealed increases in B-Raf, Raf-1, pERK, cyclin D1, 4EBP1, and p-4EBP1-Ser65,-Thr70, and-Thr37/46 expression.", "output": {"entities": {"gene": [{"text": "Raf-1", "start": 139, "end": 144}], "disease": [{"text": "kidney tumors", "start": 25, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Raf-1", "start": 139, "end": 144}, "tail": {"text": "kidney tumors", "start": 25, "end": 38}}]}}, "schema": []}
{"input": "The inhibition of APE1 expression in A549 cells was most significant after 48 hours of infection by Ad5/F35-APE1 siRNA recombinant adenovirus (10 MOI).", "output": {"entities": {"gene": [{"text": "APE1", "start": 18, "end": 22}], "disease": [{"text": "adenovirus", "start": 131, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study is to evaluate the immunohistochemical expression of Hsp90 and to examine whether Hsp90 expression is associated with estrogen receptor alpha (ER-alpha) and beta (ER-beta) immunostaining in lobular neoplasia (LN) of the breast.", "output": {"entities": {"gene": [{"text": "ER-beta", "start": 189, "end": 196}], "disease": [{"text": "lobular neoplasia", "start": 216, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "To investigate the mechanism of MHV-induced demyelination, we examined whether the S gene of MHV contains determinants of demyelination and whether demyelination is linked to viral persistence.", "output": {"entities": {"gene": [{"text": "S gene", "start": 83, "end": 89}], "disease": [{"text": "demyelination", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "s-FKN is shed from ECs following hypoxia/reoxygenation and acts through CX3CR1 on ECs to increase ICAM-1 expression and promote neutrophil adhesion through activation of the Jak-Stat5 pathway.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 72, "end": 78}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation was detected in 78. 9% of esophageal adenocarcinomas, in 100% of Barrett' s intraepithelial neoplasia, in 88. 9% of Barrett' s metaplasia, but only in 21. 4% of normal esophageal mucosa samples (P < 0. 001) and correlated significantly with downregulation of MGMT transcripts (P = 0. 048) and protein expression (P = 0. 02).", "output": {"entities": {"gene": [{"text": "MGMT", "start": 276, "end": 280}], "disease": [{"text": "intraepithelial neoplasia", "start": 93, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The Seventh Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure in 2003 created a prehypertension category for persons with blood pressures ranging from systolic blood pressure (SBP) of 120-139 mm Hg or diastolic blood pressure (DBP) from 80 to 89 mm Hg, due to increased risk of cardiovascular disease.", "output": {"entities": {"gene": [{"text": "DBP", "start": 277, "end": 280}], "disease": [{"text": "systolic blood pressure", "start": 201, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Isolates with AgI/II type A versus types B (1) and B (2) tended to differ in gp340 binding avidity and qualitative adhesion profiles for saliva gp340 phenotypes.", "output": {"entities": {"gene": [{"text": "gp340", "start": 77, "end": 82}], "disease": [{"text": "adhesion", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The molecular genetic changes in sporadic VS identified here included mutations and allelic loss, but no aberrant hypermethylation of the NF2 gene was detected.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 138, "end": 146}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "If the levels of beta (3)-AR were too high, they might contribute to the loss of cardiac function and be the foundation of the functional degradation of HF.", "output": {"entities": {"gene": [{"text": "beta (3)-AR", "start": 17, "end": 28}], "disease": [{"text": "HF", "start": 153, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta (3)-AR", "start": 17, "end": 28}, "tail": {"text": "HF", "start": 153, "end": 155}}]}}, "schema": []}
{"input": "Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002.", "output": {"entities": {"gene": [{"text": "NISCH", "start": 44, "end": 49}], "disease": [{"text": "cholangitis", "start": 31, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In cardiomyocytes pretreatment with SP600125, a JNK inhibitor, suppressed the cardiomyocytes hypertrophy by inhibiting the ASK1/JNK pathway.", "output": {"entities": {"gene": [{"text": "JNK", "start": 48, "end": 51}], "disease": [{"text": "hypertrophy", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "It is, therefore, of interest that the NF1 gene has recently been revealed to carry somatic, inactivating mutations in a total of 35 (21. 7%) of 161 sporadic pheochromocytomas in two independent tumor series.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 39, "end": 47}], "disease": [{"text": "sporadic", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Overall, 24 patients (17 with leukemia, 4 with SAA, and 3 with thalassemia) suffered graft failure: 10 patients (all grafted with Campath-1M) rejected their grafts, while 14 others (9 grafted with Campath-1M, and 5 with 1G isotype) never engrafted (p = 0. 009).", "output": {"entities": {"gene": [{"text": "SAA", "start": 47, "end": 50}], "disease": [{"text": "leukemia", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the levels of miR-21 were significantly higher in the COPD patients and asymptomatic heavy smokers than in the HC (P < 0. 001), while the levels of miR-181a were significantly lower in the COPD patients and asymptomatic heavy smokers than in the HC (P < 0. 001).", "output": {"entities": {"gene": [{"text": "miR-21", "start": 27, "end": 33}], "disease": [{"text": "asymptomatic", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In regression models that adjusted for epidemiological confounders, the NQO1 and the NFE2L2 SNPs were associated with BPD and severe BPD, respectively.", "output": {"entities": {"gene": [{"text": "NFE2L2", "start": 85, "end": 91}], "disease": [{"text": "regression", "start": 3, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 11, "end": 15}], "disease": [{"text": "Marfan syndrome", "start": 127, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 11, "end": 15}, "tail": {"text": "Marfan syndrome", "start": 127, "end": 142}}]}}, "schema": []}
{"input": "Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.", "output": {"entities": {"gene": [{"text": "GJC2", "start": 37, "end": 41}], "disease": [{"text": "primary lymphoedema", "start": 45, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GJC2", "start": 37, "end": 41}, "tail": {"text": "primary lymphoedema", "start": 45, "end": 64}}]}}, "schema": []}
{"input": "We found that hyperoxia-induced Nox4 expression was markedly reduced in Nrf2 (-/-) mice, compared to Nrf2 (+/+) mice.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 72, "end": 76}], "disease": [{"text": "hyperoxia", "start": 14, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "UV-specific p53 and PTCH mutations in sporadic basal cell carcinoma of sun-exposed skin.", "output": {"entities": {"gene": [{"text": "p53", "start": 12, "end": 15}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Our results suggested that TRPA1 is involved in ET-1-induced spontaneous pain-like behavior in mice.", "output": {"entities": {"gene": [{"text": "ET-1", "start": 48, "end": 52}], "disease": [{"text": "pain", "start": 73, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ET-1", "start": 48, "end": 52}, "tail": {"text": "pain", "start": 73, "end": 77}}]}}, "schema": []}
{"input": "This patient, together with the AST-1 cell line, provided us a unique opportunity to study the development and clonal evolution of malignant lymphoma.", "output": {"entities": {"gene": [{"text": "AST", "start": 32, "end": 35}], "disease": [{"text": "malignant lymphoma", "start": 131, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Later, a physical examination was performed, including the measurement of systolic blood pressure (SBP) and diastolic blood pressure (DBP), body mass index (BMI) and waist-to-hip ratio (WHR).", "output": {"entities": {"gene": [{"text": "DBP", "start": 134, "end": 137}], "disease": [{"text": "systolic blood pressure", "start": 74, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We confirmed these microarray data by measuring levels of NEP expression in all subjects; in addition, we found that NEP gene expression correlated inversely with proteinuria.", "output": {"entities": {"gene": [{"text": "NEP", "start": 58, "end": 61}], "disease": [{"text": "proteinuria", "start": 163, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Eighty female mice were randomized into four groups: group 1 consisted of 20 mice that received MSCs only by intrahepatic injection; group 2 consisted of 20 HCC mice induced by inoculation of Hepa 1-6 cells into livers without MSC treatment; group 3 consisted of 20 mice that received MSCs after induction of liver cancer; group 4 consisted of 20 mice that received MSCs after induction of liver cancer on top of induced biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 157, "end": 160}], "disease": [{"text": "biliary cirrhosis", "start": 421, "end": 438}]}, "relations": {}}, "schema": []}
{"input": "To substantiate this genetic evidence, the NOP receptor antagonist 1-[(3R, 4R)-1-cyclooctylmethyl-3-hydroxymethyl-4-piperidyl]-3-ethyl-1, 3-dihydro-2H benzimidazol-2-one (J-113397) simultaneously reduced akinesia and nigral glutamate levels in reserpinized NOP (+/+) mice, being ineffective in NOP (-/-) mice.", "output": {"entities": {"gene": [{"text": "NOP", "start": 43, "end": 46}], "disease": [{"text": "akinesia", "start": 204, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "A total of 122 TB patients and 166 healthy controls (N = 166) negative for human immunodeficiency virus infection were examined for IL1B-511 and + 3, 953, TAP1 and TAP2 and IKBL + 738 polymorphisms.", "output": {"entities": {"gene": [{"text": "IKBL", "start": 173, "end": 177}], "disease": [{"text": "human immunodeficiency virus infection", "start": 75, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate a possible role of the c-erbB-2 gene in the development of aggressive behavior in bladder tumors.", "output": {"entities": {"gene": [{"text": "c-erbB-2 gene", "start": 41, "end": 54}], "disease": [{"text": "aggressive behavior", "start": 77, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a co-regulation of NPR-B and CNP expression supporting the relevance of this receptor in human disease characterized by a marked inflammatory/immune component and suggesting the possibility of manipulating inflammation via pharmacological agents selective for this receptor.", "output": {"entities": {"gene": [{"text": "CNP", "start": 51, "end": 54}], "disease": [{"text": "inflammation", "start": 228, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Whether adjusted for MCL International Prognostic Index (MIPI) or not, deletions of RB1, CDKN2A, TP53, and CDKN1B were associated with shorter overall survival (OS), similarly in both treatment arms, whereas CNAs in MYC, ATM, CDK2, CDK4, and MDM2 had no prognostic value.", "output": {"entities": {"gene": [{"text": "ATM", "start": 221, "end": 224}], "disease": [{"text": "arms", "start": 194, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "RNA inhibition and cDNA transfection experiments tested effects of stathmin under-and overexpression, respectively, on the in vitro and in vivo resistance of malignant glioma cells to treatment with nitrosourea.", "output": {"entities": {"gene": [{"text": "stathmin", "start": 67, "end": 75}], "disease": [{"text": "malignant glioma", "start": 158, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "stathmin", "start": 67, "end": 75}, "tail": {"text": "malignant glioma", "start": 158, "end": 174}}]}}, "schema": []}
{"input": "In western populations, dominant MYOC mutation remains a common cause of primary open-angle juvenile glaucoma and infrequently can be implicated in congenital/infantile or adult-onset forms; identified families should undergo genetic counseling.", "output": {"entities": {"gene": [{"text": "MYOC", "start": 33, "end": 37}], "disease": [{"text": "juvenile glaucoma", "start": 92, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYOC", "start": 33, "end": 37}, "tail": {"text": "juvenile glaucoma", "start": 92, "end": 109}}]}}, "schema": []}
{"input": "All the patients with familial ANFH whom we studied carried COL2A1 mutations.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 60, "end": 66}], "disease": [{"text": "ANFH", "start": 31, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 60, "end": 66}, "tail": {"text": "ANFH", "start": 31, "end": 35}}]}}, "schema": []}
{"input": "The-403 G--> A promoter polymorphism in the RANTES gene is associated with atopy and asthma.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 44, "end": 50}], "disease": [{"text": "atopy", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "RNU4ATAC rare variants have been recently reported to cause microcephalic osteodysplastic primordial dwarfism, type I (MOPD1), whose phenotype is distinct from Roifman Syndrome.", "output": {"entities": {"gene": [{"text": "RNU4ATAC", "start": 0, "end": 8}], "disease": [{"text": "Roifman Syndrome", "start": 160, "end": 176}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNU4ATAC", "start": 0, "end": 8}, "tail": {"text": "Roifman Syndrome", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "Screening of the genetic variations of the MEN1 gene revealed four germline mutations in five typical MEN1 families.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 43, "end": 47}], "disease": [{"text": "MEN1", "start": 102, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 43, "end": 47}, "tail": {"text": "MEN1", "start": 102, "end": 106}}]}}, "schema": []}
{"input": "The aim of this study was to describe the immunohistochemical reactivity of the cells in sebaceoma to Ber-EP4 and epithelial membrane antigen (EMA) and investigate the utility of this panel to differentiate sebaceoma from basal cell carcinoma.", "output": {"entities": {"gene": [{"text": "EP4", "start": 106, "end": 109}], "disease": [{"text": "basal cell carcinoma", "start": 222, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "We found seven significant associations between CAMK2A SNPs and alcohol dependence, one of which in an autophosphorylation-related area of the gene.", "output": {"entities": {"gene": [{"text": "CAMK2A", "start": 48, "end": 54}], "disease": [{"text": "alcohol dependence", "start": 64, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAMK2A", "start": 48, "end": 54}, "tail": {"text": "alcohol dependence", "start": 64, "end": 82}}]}}, "schema": []}
{"input": "We then examined the in vitro effect of hypoxia mimicked by CoCl2 on mRNA and protein expression of HIF-1alpha and CDX2 using two human colon cancer cell lines, SW480 and LS174T.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 115, "end": 119}], "disease": [{"text": "hypoxia", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "On chromosome 11 the translocation targets the human homologue of NUP98, a member of the GLFG nucleoporin family.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 66, "end": 71}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "In addition, two amino acid substitutions in the extracellular domain of HLA-DQ & #945; 1 at position 41 (lysine encoded by HLA-DQA1 * 01: 03; P = 5. 60 & #215; 10 (-10)) and of HLA-DQ & #946; 1 at position 45 (glutamic acid encoded by HLA-DQB1 * 03: 01 and HLA-DQB1 * 03: 04; P = 1. 20 & #215; 10 (-9)) independently confer achalasia risk.", "output": {"entities": {"gene": [{"text": "HLA-DQA1", "start": 124, "end": 132}], "disease": [{"text": "achalasia", "start": 325, "end": 334}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DQA1", "start": 124, "end": 132}, "tail": {"text": "achalasia", "start": 325, "end": 334}}]}}, "schema": []}
{"input": "Desmoplastic small round cell tumor represents the third tumor type associated with translocation of EWS and the first tumor associated with consistent translocation of WT1.", "output": {"entities": {"gene": [{"text": "EWS", "start": 101, "end": 104}], "disease": [{"text": "translocation", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "IRX1 methylation was studied by methylation specific polymerase chain reaction (MSP) and bisulfate sequencing polymerase chain reaction (BSP) methods in gastric mucosa tissues from H. pylori-positive chronic gastritis patients or H. pylori-negative chronic gastritis patients.", "output": {"entities": {"gene": [{"text": "BSP", "start": 137, "end": 140}], "disease": [{"text": "chronic gastritis", "start": 200, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "We have analysed the 14 CGAarg codons in the RB1 gene for mutations in 113 patients with bilateral retinoblastoma.", "output": {"entities": {"gene": [{"text": "RB1", "start": 45, "end": 48}], "disease": [{"text": "retinoblastoma", "start": 99, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 45, "end": 48}, "tail": {"text": "retinoblastoma", "start": 99, "end": 113}}]}}, "schema": []}
{"input": "We hypothesized that the gene polymorphism (allele2 of IL-1β) would influence host response and enhance inflammatory reactions predisposing to persistent apical periodontitis (PAP).", "output": {"entities": {"gene": [{"text": "PAP", "start": 176, "end": 179}], "disease": [{"text": "apical periodontitis", "start": 154, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Our comprehensive screening suggested that population-specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2. 01 [95% CI: 1. 027-3. 936, P < 0. 05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between FLG mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between FLG mutations and hay fever is due to the close association between FLG mutations and hay fever patients with eczema.", "output": {"entities": {"gene": [{"text": "FLG", "start": 63, "end": 66}], "disease": [{"text": "hay fever", "start": 122, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Inactivation of CIC relieves repression of its effector ETV4, driving ETV4-mediated upregulation of MMP24, which is necessary and sufficient for metastasis.", "output": {"entities": {"gene": [{"text": "MMP24", "start": 100, "end": 105}], "disease": [{"text": "metastasis", "start": 145, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP24", "start": 100, "end": 105}, "tail": {"text": "metastasis", "start": 145, "end": 155}}]}}, "schema": []}
{"input": "Our results indicate that renin gene Mbo I site polymorphism is not associated with blood pressure levels and risk of hypertension.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 26, "end": 36}], "disease": [{"text": "blood pressure", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The Forkhead Box m1 transcription factor stimulates the proliferation of tumor cells during development of lung cancer.", "output": {"entities": {"gene": [{"text": "Forkhead Box m1", "start": 4, "end": 19}], "disease": [{"text": "lung cancer", "start": 107, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Forkhead Box m1", "start": 4, "end": 19}, "tail": {"text": "lung cancer", "start": 107, "end": 118}}]}}, "schema": []}
{"input": "However, surfactant protein-C/TNF-alpha transgenic mice do not spontaneously develop pulmonary fibrosis but instead develop alveolar enlargement and loss of elastic recoil.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 30, "end": 39}], "disease": [{"text": "enlargement", "start": 133, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings link LBH for the first time to the Wnt signaling pathway in both development and cancer and highlight LBH as a potential new marker for therapeutically challenging basal-like breast cancers.", "output": {"entities": {"gene": [{"text": "LBH", "start": 34, "end": 37}], "disease": [{"text": "cancer", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "ATM IVS22-77 associated with the increased risk of sporadic PTC (OR = 1. 84, 95% CI 1. 10-3. 24) whereas TP53 Arg72Pro correlated with the higher risk of radiogenic PTC (OR = 1. 80, 95% CI 1. 06-2. 36).", "output": {"entities": {"gene": [{"text": "TP53", "start": 105, "end": 109}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Allelic variants of SCN5A did not contribute to risk of sudden cardiac arrest in this primarily Caucasian population with significant CAD.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 20, "end": 25}], "disease": [{"text": "sudden cardiac arrest", "start": 56, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The beta2/beta1 adrenoceptor ratio increases in congestive heart failure (CHF), making the heart relatively more dependent on inotropic, lusitropic, and chronotropic stimulation by the beta2-adrenergic receptor (ADRB2).", "output": {"entities": {"gene": [{"text": "beta2", "start": 4, "end": 9}], "disease": [{"text": "congestive heart failure", "start": 48, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Therefore, CRIP1 may be an independent prognostic marker with significant predictive power for use in breast cancer therapy.", "output": {"entities": {"gene": [{"text": "CRIP1", "start": 11, "end": 16}], "disease": [{"text": "breast cancer", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Here we show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia.", "output": {"entities": {"gene": [{"text": "FAT4", "start": 90, "end": 94}], "disease": [{"text": "periventricular neuronal heterotopia", "start": 148, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FAT4", "start": 90, "end": 94}, "tail": {"text": "periventricular neuronal heterotopia", "start": 148, "end": 184}}]}}, "schema": []}
{"input": "Univariate survival analysis revealed that high SOX18 (p = 0. 0125) expression, presence of residual disease (p < 0. 0001) and advanced disease stage (p < 0. 0324) predicted poor patient outcome.", "output": {"entities": {"gene": [{"text": "SOX18", "start": 48, "end": 53}], "disease": [{"text": "residual disease", "start": 92, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Arsenite treatment upregulated surface levels of death receptors, TRAIL-R1 and TRAIL-R2, through increased translocation of these proteins from cytoplasm to the cell surface.", "output": {"entities": {"gene": [{"text": "TRAIL-R2", "start": 79, "end": 87}], "disease": [{"text": "translocation", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Neurological findings including severe psychomotor retardation, quadruspasticity and microcephaly accompanied with marked dystonia, excessive sweating in the first patient was compatible with the diagnosis of tyrosine hydroxylase (TH) deficiency (type B) and subsequent molecular analysis revealed two novel heterozygous mutations c. 636A > C and c. 1124G > C in the TH gene.", "output": {"entities": {"gene": [{"text": "TH gene", "start": 367, "end": 374}], "disease": [{"text": "microcephaly", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We show that aneuploidy impairs induction of the heat shock response suggesting that the activity of the transcription factor heat shock factor 1 (HSF1) is compromised.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 147, "end": 151}], "disease": [{"text": "aneuploidy", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "1alpha, 25 (OH) 2D (3) induced the expression of E-cadherin and other adhesion proteins (occludin, Zonula occludens [ZO]-1, ZO-2, vinculin) and promoted the translocation of beta-catenin, plakoglobin, and ZO-1 from the nucleus to the plasma membrane.", "output": {"entities": {"gene": [{"text": "occludin", "start": 89, "end": 97}], "disease": [{"text": "adhesion", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In cell culture systems, overexpression of Emi1 leads to tetraploidy and genomic instability, especially in the absence of normal p53 function.", "output": {"entities": {"gene": [{"text": "Emi1", "start": 43, "end": 47}], "disease": [{"text": "genomic instability", "start": 73, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome.", "output": {"entities": {"gene": [{"text": "SOFT", "start": 97, "end": 101}], "disease": [{"text": "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome", "start": 103, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOFT", "start": 97, "end": 101}, "tail": {"text": "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome", "start": 103, "end": 182}}]}}, "schema": []}
{"input": "Increased expression of aldolase A in endotoxemic rats is mediated by both hypoxia-dependent and hypoxia-independent mechanisms.", "output": {"entities": {"gene": [{"text": "aldolase A", "start": 24, "end": 34}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG.", "output": {"entities": {"gene": [{"text": "PRSS56", "start": 83, "end": 89}], "disease": [{"text": "ACG", "start": 151, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRSS56", "start": 83, "end": 89}, "tail": {"text": "ACG", "start": 151, "end": 154}}]}}, "schema": []}
{"input": "Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.", "output": {"entities": {"gene": [{"text": "ERDA-1", "start": 93, "end": 99}], "disease": [{"text": "BPAD", "start": 154, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERDA-1", "start": 93, "end": 99}, "tail": {"text": "BPAD", "start": 154, "end": 158}}]}}, "schema": []}
{"input": "We measured coronary artery calcification (CAC), aortic calcification (AC), and bone mineral density (BMD) in 682 men and women from large Old-Order Amish families.", "output": {"entities": {"gene": [{"text": "CAC", "start": 43, "end": 46}], "disease": [{"text": "coronary artery calcification", "start": 12, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Transduction of TAZ enhanced cell proliferation and tumorigenesis in bronchial epithelial cells, whereas TAZ silencing suppressed cell proliferation and induced cell cycle arrest in NSCLC cells.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 16, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "No relationship was found between the detected mutations and severity of acute pancreatitis: mild acute pancreatitis, mutation of CFTR in 4 (2. 8%) and CTRC in 2 (1. 4%) patients; severe acute pancreatitis, mutation of CFTR and CTRC in 1 (2. 6%) case each.", "output": {"entities": {"gene": [{"text": "CTRC", "start": 152, "end": 156}], "disease": [{"text": "mild", "start": 93, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results implicate TP53, EP300, LPHN2, C10orf137, MYH2, TGM2 and MS4A3 as potential driver genes of squamous cell lung cancer.", "output": {"entities": {"gene": [{"text": "MYH2", "start": 69, "end": 73}], "disease": [{"text": "squamous cell lung cancer", "start": 119, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "IL-4 may aggravate the disease by interfering with type 1 T helper cell differentiation or by promoting local inflammation at sites of parasite sequestration.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Together, these results suggest a direct role for VDUP1 in the adverse effects of ischemia and oxidative stress on cardiomyocyte survival, left ventricular collagen deposition, and cardiac function.", "output": {"entities": {"gene": [{"text": "VDUP1", "start": 50, "end": 55}], "disease": [{"text": "ischemia", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Role of APAF-1, E-cadherin and peritumoral lymphocytic infiltration in tumour budding in colorectal cancer.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 16, "end": 26}], "disease": [{"text": "lymphocytic infiltration", "start": 43, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the effects of recombinant CCN2 peptide on U-CH1 cells were more pronounced under normoxia than hypoxia, promoting increased expression of CCN1, CCN2, CCN3 and CCN5, the notochord-associated markers SOX5, SOX6, T, CD24, and FOXA1 as well as increased tumour-sphere formation.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 42, "end": 46}], "disease": [{"text": "hypoxia", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Ancient origin of the CTH alelle carrying the c. 200C & gt; T (p. T67I) variant in patients with cystathioninuria.", "output": {"entities": {"gene": [{"text": "CTH", "start": 22, "end": 25}], "disease": [{"text": "cystathioninuria", "start": 97, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTH", "start": 22, "end": 25}, "tail": {"text": "cystathioninuria", "start": 97, "end": 113}}]}}, "schema": []}
{"input": "Hypermethylation was detected in 78. 9% of esophageal adenocarcinomas, in 100% of Barrett' s intraepithelial neoplasia, in 88. 9% of Barrett' s metaplasia, but only in 21. 4% of normal esophageal mucosa samples (P < 0. 001) and correlated significantly with downregulation of MGMT transcripts (P = 0. 048) and protein expression (P = 0. 02).", "output": {"entities": {"gene": [{"text": "MGMT", "start": 276, "end": 280}], "disease": [{"text": "esophageal", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We assessed osteocalcin, C-terminal telopeptide of type I collagen, ACTH, cortisol after the dexamethasone suppression test (F-1mgDST), BclI and N363S single-nucleotide polymorphisms (SNPs) of glucocorticoid receptor, lumbar spine and femoral neck bone mineral density by dual x-ray absorptiometry, and VFx by radiography.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 68, "end": 72}], "disease": [{"text": "bone mineral density", "start": 248, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "CCN2 (CTGF) functions downstream of transforming growth factor (TGF)-beta, driving increased extracellular matrix (ECM) accumulation and fibrosis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 115, "end": 118}], "disease": [{"text": "fibrosis", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "ARG1 was positively correlated with NLR (r = 0. 57, p = 0. 003), neutrophil count (r = 0. 526, p = 0. 007), NIHSS (r = 0. 607, p = 0. 001), and infarct volume (r = 0. 27, p = 0. 051).", "output": {"entities": {"gene": [{"text": "ARG1", "start": 0, "end": 4}], "disease": [{"text": "infarct", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Intracellular expression of heat-shock-protein 70 (HSP70) arose early in evolutionary development as a tool to protect cellular homeostasis.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 51, "end": 56}], "disease": [{"text": "shock", "start": 33, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.", "output": {"entities": {"gene": [{"text": "FOXG1", "start": 6, "end": 11}], "disease": [{"text": "congenital variant of Rett syndrome", "start": 42, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXG1", "start": 6, "end": 11}, "tail": {"text": "congenital variant of Rett syndrome", "start": 42, "end": 77}}]}}, "schema": []}
{"input": "Increased assembly of the active eIF4G-eIF4E complex was associated with a robust rise in phosphorylation of eIF4G (Ser (1108)) and a decreased assembly of inactive eIF4E binding protein-1 (4E-BP1)-eIF4E complex in both sterile inflammatory and septic rats.", "output": {"entities": {"gene": [{"text": "eIF4E", "start": 39, "end": 44}], "disease": [{"text": "sterile", "start": 220, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "We found no direct association between lung cancer risk and any of the DNA repair genotypes studied, however, the association between XPD codon 751 genotype and lung cancer was modified by alpha-tocopherol supplementation, and the association between XRCC1 codon 399 genotype and lung cancer was modified by the amount of smoking.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 251, "end": 256}], "disease": [{"text": "smoking", "start": 322, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "We conclude that smoking increases risk of colorectal adenomas and that SULT1A1 and NAT2 only modestly modify this association.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 84, "end": 88}], "disease": [{"text": "smoking", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "We now demonstrate that co-administering purified Escherichia coli O55 lipopolysaccharide (LPS), at a dosage of 300 ng/g body weight, to HuSAP-transgenic mice increases their susceptibility to the lethal effects of Stx2.", "output": {"entities": {"gene": [{"text": "Stx2", "start": 215, "end": 219}], "disease": [{"text": "body weight", "start": 121, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.", "output": {"entities": {"gene": [{"text": "Meis 1", "start": 43, "end": 49}], "disease": [{"text": "breast cancer", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Meis 1", "start": 43, "end": 49}, "tail": {"text": "breast cancer", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "Positive correlation of CD11c with HEV viral load suggested that increased frequencies of the same might be associated with HEV replication.", "output": {"entities": {"gene": [{"text": "CD11c", "start": 24, "end": 29}], "disease": [{"text": "viral load", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of GAB2 phenocopies knockdown of JNK2 in vivo by reducing tumor growth and metastasis, supporting that JNK2 mediates tumor progression by regulating GAB2.", "output": {"entities": {"gene": [{"text": "JNK2", "start": 43, "end": 47}], "disease": [{"text": "metastasis", "start": 85, "end": 95}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "JNK2", "start": 43, "end": 47}, "tail": {"text": "metastasis", "start": 85, "end": 95}}]}}, "schema": []}
{"input": "The mutations/polymorphisms studied included Factor V Leiden, prothrombin variant G20210A, beta-fibrinogen 448 (G/A), endothelial protein C receptor (23-base pair insertion), methyl tetrahydrofolate reductase 677 (C/T), platelet glycoprotein IIIa PlA1/A2, plasminogen activator inhibitor-1 4G/5G, angiotensin II type 1 receptor (A/C), hemochromatosis gene 282 (G/A), nitric oxide synthase (NOS) (3 forms: eNOS, eNOS3, eNOS4), p22 phox of NADPH oxidase C242T, and angiotensin-converting enzyme insertion/deletion polymorphism.", "output": {"entities": {"gene": [{"text": "endothelial protein C receptor", "start": 118, "end": 148}], "disease": [{"text": "fibrinogen", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.", "output": {"entities": {"gene": [{"text": "POC1B", "start": 37, "end": 42}], "disease": [{"text": "cone-rod dystrophy", "start": 74, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POC1B", "start": 37, "end": 42}, "tail": {"text": "cone-rod dystrophy", "start": 74, "end": 92}}]}}, "schema": []}
{"input": "We present 14 patients, with characteristic features of mitochondrial disease including progressive external ophthalmoplegia (PEO) and Alpers-Huttenlocher syndrome and laboratory findings indicative of mitochondrial dysfunction, including cytochrome c oxidase (COX) deficiency and multiple deletions or depletion of the mitochondrial DNA.", "output": {"entities": {"gene": [{"text": "COX", "start": 261, "end": 264}], "disease": [{"text": "progressive external ophthalmoplegia", "start": 88, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In both cases, dyserythropoiesis predominated on the more mature erythroblasts, and was associated with a lymphoproliferative syndrome as well as with haemolytic anaemia, hypergammaglobulinaemia and the expansion of an unusual population of CD4-CD8-T cells that express the alpha/beta T-cell receptor.", "output": {"entities": {"gene": [{"text": "CD4", "start": 241, "end": 244}], "disease": [{"text": "hypergammaglobulinaemia", "start": 171, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Altogether, these data demonstrate a novel mechanism for suppressing the activity of B cells and suggest a potential role for CD300a in the B-cell dysfunction observed in HIV-induced immunodeficiency.", "output": {"entities": {"gene": [{"text": "CD300a", "start": 126, "end": 132}], "disease": [{"text": "immunodeficiency", "start": 183, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "spp1 is expressed during embryogenesis, wound healing, and tumorigenesis; however, its in vivo functions are not well understood.", "output": {"entities": {"gene": [{"text": "spp1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We also tested these LCTs for mutations in two genes, the LH/choriogonadotropin receptor (LHCGR) and the guanine nucleotide-binding protein alpha (GNAS) that had been implicated in LCT tumorigenesis.", "output": {"entities": {"gene": [{"text": "LHCGR", "start": 90, "end": 95}], "disease": [{"text": "tumorigenesis", "start": 185, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Large subcutaneous H22 HCCs (0. 7-0. 8 cm in diameter) established in BALB/c mice were rapidly and completely eradicated when intratumoral administration of As (2) O (3) was preceded by in situ gene transfer of B7H3.", "output": {"entities": {"gene": [{"text": "B7H3", "start": 211, "end": 215}], "disease": [{"text": "HCC", "start": 23, "end": 26}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "B7H3", "start": 211, "end": 215}, "tail": {"text": "HCC", "start": 23, "end": 26}}]}}, "schema": []}
{"input": "ZNRD1 mediates resistance of gastric cancer cells to methotrexate by regulation of IMPDH2 and Bcl-2.", "output": {"entities": {"gene": [{"text": "IMPDH2", "start": 83, "end": 89}], "disease": [{"text": "gastric cancer", "start": 29, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Results showed that (1) B7-H1 expression and mRNA are augmented in cells of HIV patients; (2) increased IL-10 production in these patients is largely induced by B7-H1-expressing CD14 (+) cells; (3) an inverse correlation is detected between B7-H1 expression and CD4 counts, whereas the up-regulation of B7-H1 is directly associated with HIV plasma viremia; (4) antiviral therapy results in the parallel down modulation of IL-10 production and B7-H1 expression/synthesis; and (5) B7-H1/CD80 and B7-H1/CD86 mRNA ratios are increased in peripheral blood mononuclear cells (PBMCs) of HIV patients compared with HCs.", "output": {"entities": {"gene": [{"text": "CD86", "start": 500, "end": 504}], "disease": [{"text": "viremia", "start": 348, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 123, "end": 127}], "disease": [{"text": "gastric cancer", "start": 325, "end": 339}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EGFR", "start": 123, "end": 127}, "tail": {"text": "gastric cancer", "start": 325, "end": 339}}]}}, "schema": []}
{"input": "The I/D polymorphism of the ACE gene does not appear to contribute to the biochemical and phenotypic characteristic of APA, however, the deletion of the insertion allele of the ACE gene I/D polymorphism in 16% of aldosterone-producing adenomas may represent the loss of a tumour suppressor gene/s or other genes on chromosome 17q which may contribute to tumorigenesis in APA.", "output": {"entities": {"gene": [{"text": "APA", "start": 119, "end": 122}], "disease": [{"text": "tumorigenesis", "start": 354, "end": 367}]}, "relations": {}}, "schema": []}
{"input": "Most importantly, the expression of FBXO40 can be upregulated in skeletal muscle from denervation-but not starvation-related muscle atrophy.", "output": {"entities": {"gene": [{"text": "FBXO40", "start": 36, "end": 42}], "disease": [{"text": "muscle atrophy", "start": 125, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Prospective analysis of DNA ploidy, proliferative index and epidermal growth factor receptor as prognostic factors for pretreated uterine cancer.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 60, "end": 92}], "disease": [{"text": "uterine cancer", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Somatic mutations of BRCA2 are rare in typical sporadic cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 21, "end": 26}], "disease": [{"text": "sporadic", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In pancreatic juice, cyclin D2 methylation was detected in 9 of 22 (40. 9%) samples from patients with pancreatic cancer and in 6 of 9 (66. 7%) patients with IPMNs, but in none of 20 non-neoplastic controls, respectively (P = 0. 0013 and P < 0. 0001, respectively).", "output": {"entities": {"gene": [{"text": "cyclin D2", "start": 21, "end": 30}], "disease": [{"text": "non-neoplastic", "start": 183, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation (codon 351, GCT (Ala)--& gt; CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B.", "output": {"entities": {"gene": [{"text": "FIX", "start": 73, "end": 76}], "disease": [{"text": "hemophilia B", "start": 128, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIX", "start": 73, "end": 76}, "tail": {"text": "hemophilia B", "start": 128, "end": 140}}]}}, "schema": []}
{"input": "We have identified two different exonic mutations causing GalNAc6S sulfatase deficiency in two unrelated Japanese families, in one patient with classical Morquio disease, and in two brothers with a mild form of MPS IVA.", "output": {"entities": {"gene": [{"text": "GalNAc6S sulfatase", "start": 58, "end": 76}], "disease": [{"text": "MPS IVA", "start": 211, "end": 218}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GalNAc6S sulfatase", "start": 58, "end": 76}, "tail": {"text": "MPS IVA", "start": 211, "end": 218}}]}}, "schema": []}
{"input": "Ten genes (LPA, NOX3, SNX9, VIL2, VIP, ADAM8, DOCK1, FANK1, GPR123 and PTPRE) were selected for a subsequent association study performed in a large SLSJ sample (n = 1167) of individuals tested for asthma and atopy related phenotypes.", "output": {"entities": {"gene": [{"text": "SNX9", "start": 22, "end": 26}], "disease": [{"text": "asthma", "start": 197, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "To verify if this process might possibly contribute in the pathogenesis of schizophrenia post mortem brains of patients suffering from this disease were analysed immunohistochemically for the presence and co-localization of cathepsin K and beta-EP.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 224, "end": 235}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cathepsin K", "start": 224, "end": 235}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "These results indicate that the expression of the high-affinity concentrative nucleoside transporter hCNT1 has a prognostic value in determining disease-free survival and risk of relapse in breast cancer patients undergoing surgery followed by cyclophosphamide-methotrexate-5-fluorouracil chemotherapy.", "output": {"entities": {"gene": [{"text": "hCNT1", "start": 101, "end": 106}], "disease": [{"text": "breast cancer", "start": 190, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hCNT1", "start": 101, "end": 106}, "tail": {"text": "breast cancer", "start": 190, "end": 203}}]}}, "schema": []}
{"input": "Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice.", "output": {"entities": {"gene": [{"text": "alpha-2-macroglobulin", "start": 71, "end": 92}], "disease": [{"text": "lung tumor", "start": 220, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha-2-macroglobulin", "start": 71, "end": 92}, "tail": {"text": "lung tumor", "start": 220, "end": 230}}]}}, "schema": []}
{"input": "Transforming growth factor-β (TGFβ) and bone morphogenetic proteins (BMP) are important regulators of fibroblast proliferation and matrix deposition, but little is known about the TGFβ superfamily in fibromatosis.", "output": {"entities": {"gene": [{"text": "TGFβ", "start": 30, "end": 34}], "disease": [{"text": "fibromatosis", "start": 200, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.", "output": {"entities": {"gene": [{"text": "RET", "start": 69, "end": 72}], "disease": [{"text": "Congenital central hypoventilation syndrome", "start": 0, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 69, "end": 72}, "tail": {"text": "Congenital central hypoventilation syndrome", "start": 0, "end": 43}}]}}, "schema": []}
{"input": "Using mouse models for pancreatic ductal adenocarcinoma and lung adenocarcinoma, we found that abrogating SMYD3 catalytic activity inhibits tumour development in response to oncogenic Ras.", "output": {"entities": {"gene": [{"text": "SMYD3", "start": 106, "end": 111}], "disease": [{"text": "pancreatic ductal adenocarcinoma", "start": 23, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The relationship between FOXL2 mutation and cytogenetic abnormalities is unclear, although both are presumably early events in tumorigenesis.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 25, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Acute administration of both CAPE and alpha-tocopherol suppressed ischaemia-reperfusion-induced cerebral lipid peroxidation and injury, but CAPE seems to offer a better therapeutic advantage over alpha-tocopherol.", "output": {"entities": {"gene": [{"text": "CAPE", "start": 29, "end": 33}], "disease": [{"text": "ischaemia", "start": 66, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Conflicting results of an association of the human platelet antigen 1b (HPA-1b/PlA2), localized on the beta-subunit of the integrin alpha (IIb) beta3, and the alpha (2) 807TT genotype of the integrin alpha2beta1 with coronary atherosclerosis and myocardial infarction have been reported.", "output": {"entities": {"gene": [{"text": "beta3", "start": 144, "end": 149}], "disease": [{"text": "myocardial infarction", "start": 246, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Treatment of glioma cells with the demethylating agent 5-aza-2'-deoxycytidine restores the transcription of SGNE1/7B2.", "output": {"entities": {"gene": [{"text": "7B2", "start": 114, "end": 117}], "disease": [{"text": "glioma", "start": 13, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "VEGF and EGF play a major role in non-small-cell lung cancer (NSCLC) tumor angiogenesis and aggressiveness.", "output": {"entities": {"gene": [{"text": "EGF", "start": 1, "end": 4}], "disease": [{"text": "aggressiveness", "start": 92, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Hence, our study highlights the potential molecular mechanism (s) mediating the oncogenic role of GRP/GRP-R and demonstrates a novel role for AKT2 in neuroblastoma tumorigenesis, indicating that targeting the GRP/GRP-R/AKT2 axis may be important for developing novel therapeutics in the treatment of clinically aggressive neuroblastoma.", "output": {"entities": {"gene": [{"text": "GRP", "start": 98, "end": 101}], "disease": [{"text": "tumorigenesis", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Urinary biomarkers in hexachloro-1: 3-butadiene-induced acute kidney injury in the female Hanover Wistar rat; correlation of & #945;-glutathione S-transferase, albumin and kidney injury molecule-1 with histopathology and gene expression.", "output": {"entities": {"gene": [{"text": "kidney injury molecule-1", "start": 172, "end": 196}], "disease": [{"text": "acute kidney injury", "start": 56, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "kidney injury molecule-1", "start": 172, "end": 196}, "tail": {"text": "acute kidney injury", "start": 56, "end": 75}}]}}, "schema": []}
{"input": "These results provide previously unknown evidence that upregulation of NaV1. 9, but not NaV1. 8, in small-sized DRG neurons contributes to melittin-induced heat hypersensitivity.", "output": {"entities": {"gene": [{"text": "NaV1. 8", "start": 88, "end": 95}], "disease": [{"text": "hypersensitivity", "start": 161, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Carcinoembryonic antigen (CEA) has been recently implicated in the process of human colon cancer liver metastasis by means of an adhesion mechanism.", "output": {"entities": {"gene": [{"text": "CEA", "start": 26, "end": 29}], "disease": [{"text": "adhesion", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To determine whether P2X (7) has a role in susceptibility to congenital toxoplasmosis, we examined polymorphisms at P2RX7 in 149 child/parent trios from North America.", "output": {"entities": {"gene": [{"text": "P2RX7", "start": 116, "end": 121}], "disease": [{"text": "congenital toxoplasmosis", "start": 61, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "No causative genes have been identified in trisomy 3p patients, but for the 3p-syndrome, there is growing evidence that monosomy for one or more of four genes at 3pter, CHL1, CNTN4, CRBN, and MEGAP/srGAP3, may play a causative role.", "output": {"entities": {"gene": [{"text": "CRBN", "start": 182, "end": 186}], "disease": [{"text": "monosomy", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Comparative studies of two-dimensional monolayer and three-dimensional collagen-gel cultures revealed that extensive cell-to-cell contacts, wild-type ALCAM, and cell-to-matrix interactions were all indispensable for efficient conversion of pro-MMP-2 to its active form in metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 150, "end": 155}], "disease": [{"text": "metastatic melanoma", "start": 272, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "PURPOSE: To perform mutational screening of the visual system homeobox gene 1 (VSX1; MIM #605020) in patients with sporadic and familial keratoconus (MIM #148300) in a European population and, for the first time, report the mutational analysis of the two newly identified VSX1exons.", "output": {"entities": {"gene": [{"text": "MIM", "start": 85, "end": 88}], "disease": [{"text": "keratoconus", "start": 137, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "By the use of flow cytometry, the proliferative index (PI), S-phase fraction (SPF) and DNA ploidy were detected to evaluate the proliferation of tumor cells in 58 meningioma specimens.", "output": {"entities": {"gene": [{"text": "SPF", "start": 78, "end": 81}], "disease": [{"text": "meningioma", "start": 163, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The present study suggests that, at least in our panel of TGCT cell lines, hypersensitivity for cisplatin-induced apoptosis might not be necessarily correlated with the presence of wild-type p53 and is probably not associated with Bcl-2 and Bax expression.", "output": {"entities": {"gene": [{"text": "p53", "start": 191, "end": 194}], "disease": [{"text": "hypersensitivity", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Moreover, conditional deletion of Atg7, an essential regulator of autophagy, in mouse forebrain neurons is sufficient to promote development of spontaneous seizures.", "output": {"entities": {"gene": [{"text": "Atg7", "start": 34, "end": 38}], "disease": [{"text": "seizures", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "In contrast to the Ras oncogene, ARHI has been shown to have anti-proliferative effects, but the mechanisms by which it inhibits pancreatic cancer cell proliferation and induces cell cycle arrest remain unclear.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 33, "end": 37}], "disease": [{"text": "pancreatic cancer", "start": 129, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "ACPA were detected by ELISA on cyclic citrullinated peptides and on human deiminated fibrinogen.", "output": {"entities": {"gene": [{"text": "ACPA", "start": 0, "end": 4}], "disease": [{"text": "fibrinogen", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Overall presenilin expression and the relative abundance of full-length and amino-terminal fragments in presenilin FAD cases were similar to control cases and sporadic AD cases.", "output": {"entities": {"gene": [{"text": "FAD", "start": 115, "end": 118}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Secondary cell-based analysis demonstrated that stresscopin and FoxD3 are increased in neurons of DLPFC gray matter of MDD subjects.", "output": {"entities": {"gene": [{"text": "stresscopin", "start": 48, "end": 59}], "disease": [{"text": "MDD", "start": 119, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "stresscopin", "start": 48, "end": 59}, "tail": {"text": "MDD", "start": 119, "end": 122}}]}}, "schema": []}
{"input": "Effect of treatment of rheumatoid arthritis with infliximab on IFN gamma, IL4, T-bet, and GATA-3 expression: link with improvement of systemic inflammation and disease activity.", "output": {"entities": {"gene": [{"text": "IL4", "start": 74, "end": 77}], "disease": [{"text": "inflammation", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "One of them, junction plakoglobin (JUP-81) and its smaller isoforms (referred to as JUP-63, JUP-55 and JUP-30 by molecular weight) were confirmed by immunohistochemistry and immunoblotting with independent antibodies to be present in atherosclerotic plaques and their secretomes, coronary thrombi of patients with acute coronary syndrome (ACS) and macrophages differentiated from peripheral blood monocytes as well as macrophage-like cells differentiated from THP1 cells.", "output": {"entities": {"gene": [{"text": "THP1", "start": 460, "end": 464}], "disease": [{"text": "acute coronary syndrome", "start": 314, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "This double-blind, randomised, placebo-controlled phase 2 study investigated selumetinib plus dacarbazine versus placebo plus dacarbazine as first-line treatment in patients older than 18 years with histologically or cytologically confirmed advanced BRAF-mutant cutaneous or unknown primary melanoma.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 250, "end": 254}], "disease": [{"text": "blind", "start": 12, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Intratumor and intraperitoneal administration of IL-4 (38-37)-PE38KDEL caused a dose dependent regression of established tumors.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 49, "end": 53}], "disease": [{"text": "regression", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "DDC was found to be overexpressed, at the mRNA level, in the specimens from prostate cancer patients, in comparison to those from benign prostate hyperplasia patients (p < 0. 001).", "output": {"entities": {"gene": [{"text": "DDC", "start": 0, "end": 3}], "disease": [{"text": "benign prostate hyperplasia", "start": 130, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We present a three first-degree relative Italian family (proband, his mother and his sister) with a mild DM2 phenotype associated with a short (CCTG) (100) expansion as far as regards the proband and his mother, while his sister shows larger expansion correlated to a more severe phenotype.", "output": {"entities": {"gene": [{"text": "CCTG", "start": 144, "end": 148}], "disease": [{"text": "mild", "start": 100, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, alteration of the fragile FHIT locus and loss of Fhit protein expression were significantly more frequent in sporadic CRCs lacking Msh2 protein, suggesting that this mismatch repair protein may be important in maintaining the integrity of the common fragile locus within the FHIT gene.", "output": {"entities": {"gene": [{"text": "Msh2", "start": 146, "end": 150}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These findings may be indicative of pS2 and DNA ploidy alterations and tumour aggressiveness.", "output": {"entities": {"gene": [{"text": "pS2", "start": 36, "end": 39}], "disease": [{"text": "aggressiveness", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Embigin, regulated by HOXC8, plays a suppressive role in breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "HOXC8", "start": 22, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The expression of vascular endothelial growth factor (VEGF), p53 protein, and proliferative potential with Ki67 monoclonal antibody (MIB-1) was compared using immunohistochemical methods between sporadic and VHL disease-associated hemangioblastomas.", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 133, "end": 138}], "disease": [{"text": "sporadic", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "We and others have previously shown that aggregation occurs by a pathway involving dimer dissociation, metal-loss from monomers and multimeric assembly of apo-SOD1 monomers.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 159, "end": 163}], "disease": [{"text": "dissociation", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "It was reported that miR-338-3p levels are associated with clinical aggressiveness of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 86, "end": 89}], "disease": [{"text": "aggressiveness", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In the applied ischaemia model, the entire ipsilateral cortical hemisphere and hippocampus experienced sustained excitation as indicated by a long-lasting increase in the expression of arg 3. 1/arc (ARG) mRNA, a marker for neuronal activity.", "output": {"entities": {"gene": [{"text": "ARG", "start": 199, "end": 202}], "disease": [{"text": "arc", "start": 194, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Human kallikrein 10 (hK10) protein is expressed in normal breast but is significantly downregulated in a majority of invasive breast cancers.", "output": {"entities": {"gene": [{"text": "hK10", "start": 21, "end": 25}], "disease": [{"text": "breast cancers", "start": 126, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hK10", "start": 21, "end": 25}, "tail": {"text": "breast cancers", "start": 126, "end": 140}}]}}, "schema": []}
{"input": "These data provide new insights into the action of lipocalin 2 and raise the possibility that the administration of lipocalin 2 may be useful for inhibiting tumor angiogenesis, in addition to suppressing tumor metastasis, in cancers which show ras activation.", "output": {"entities": {"gene": [{"text": "lipocalin 2", "start": 51, "end": 62}], "disease": [{"text": "cancers", "start": 225, "end": 232}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "lipocalin 2", "start": 51, "end": 62}, "tail": {"text": "cancers", "start": 225, "end": 232}}]}}, "schema": []}
{"input": "Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.", "output": {"entities": {"gene": [{"text": "NRAS", "start": 117, "end": 121}], "disease": [{"text": "neurocutaneous melanosis", "start": 41, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NRAS", "start": 117, "end": 121}, "tail": {"text": "neurocutaneous melanosis", "start": 41, "end": 65}}]}}, "schema": []}
{"input": "CA1 pyramidal neurons degenerate after transient forebrain ischemia, whereas neurons in other regions of the hippocampus remain intact.", "output": {"entities": {"gene": [{"text": "CA1", "start": 0, "end": 3}], "disease": [{"text": "ischemia", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the changes in the expression levels of GDNF, ARTN, and NT-3 mRNAs might be state-dependent and associated with the pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "NT-3", "start": 81, "end": 85}], "disease": [{"text": "major depression", "start": 160, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NT-3", "start": 81, "end": 85}, "tail": {"text": "major depression", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial respiratory chain, have been identified, the molecular mechanisms leading to tumorigenesis are unknown.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 25, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 212, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Two of these mutations were novel and variations identified within the coding region of the UGT1A1 gene were considered the cause of CN-2 in all three patients.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 92, "end": 98}], "disease": [{"text": "CN-2", "start": 133, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UGT1A1", "start": 92, "end": 98}, "tail": {"text": "CN-2", "start": 133, "end": 137}}]}}, "schema": []}
{"input": "Thus, hypermethylation of DOK1 is a potentially critical event in human carcinogenesis, and may be a potential cancer biomarker and an attractive target for epigenetic-based therapy.", "output": {"entities": {"gene": [{"text": "DOK1", "start": 26, "end": 30}], "disease": [{"text": "carcinogenesis", "start": 72, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In addition, in STZ-treated rats there was increased GRK2 translocation to proximal tubular membrane and increased basal serine D1-like receptor phosphorylation.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 53, "end": 57}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We have reported differences between fibroblasts cultured from normal scars and keloids that include a pattern of glucocorticoid resistance and altered regulation of genes in several signaling pathways associated with fibrosis, including Wnt and IGF/IGF-binding protein 5 (IGFBP5).", "output": {"entities": {"gene": [{"text": "IGF", "start": 246, "end": 249}], "disease": [{"text": "scars", "start": 70, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Here we report the expression of major pyrimidine metabolising enzymes in pancreatic cancer cell lines, chronic pancreatitis tissue and human pancreatic cancer and the in vitro uptake of 3'-[(18) F] fluoro-3'-deoxythymidine ([(18) F] FLT).", "output": {"entities": {"gene": [{"text": "FLT", "start": 234, "end": 237}], "disease": [{"text": "chronic pancreatitis", "start": 104, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "These genes are: rod opsin, the alpha-subunit of rod phosphodiesterase, RDS-peripherin, rod outer membrane (ROM) protein, ornithine aminotransferase (OAT), choroideremia gene product (CHM), tissue specific inhibitor of metalloproteinases-3 (TIMP-3), and red/green photoreceptor pigment protein.", "output": {"entities": {"gene": [{"text": "peripherin", "start": 76, "end": 86}], "disease": [{"text": "pigment", "start": 278, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "In the frontal inferior cortex (FIC), sensory postcentral cortex (SPCC) and occipital primary cortex (OPC) from Swedish FAD, the parameters of oxidative injury tended to be higher than in sporadic AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 120, "end": 123}], "disease": [{"text": "sporadic", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "B-cell depletion prevented or reversed established rMOG-induced EAE, which was associated with less central nervous system (CNS) inflammation, elimination of meningeal B cells, and reduction of MOG-specific Th1 and Th17 cells.", "output": {"entities": {"gene": [{"text": "Th1", "start": 207, "end": 210}], "disease": [{"text": "inflammation", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "No association was found between WNK1 polymorphisms or haplotypes with hypertension; however, one SNP rs1468326, located 3 kb from the WNK1 promoter, was found to be nominally associated with severity of hypertension, with both systolic blood pressure (BP) (Z = + 2. 24, P = 0. 025) and diastolic BP (Z = + 1. 99, P = 0. 046).", "output": {"entities": {"gene": [{"text": "WNK1", "start": 33, "end": 37}], "disease": [{"text": "systolic blood pressure", "start": 228, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "We suggest that high levels of DEFAS, DEFA6 (key elements in adenoma formation), MMP7 (marker of colon cancer onset and progression to metastasis), SPP1 (marker of progression) and IL8 could be used to diagnose an early stage colon cancer and to evaluate the prognostic of progression for colon tumors.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 148, "end": 152}], "disease": [{"text": "colon cancer", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Here, we have assayed the effects of the CHK1 inhibitors, AZD7762 and UCN-01, during various hypoxic conditions and after reoxygenation in the absence and presence of ionizing radiation.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 41, "end": 45}], "disease": [{"text": "hypoxic", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, clinical parameters of inflammation and bone destruction of 262 RA patients were correlated with the presence of the DECTIN-1 Y238X polymorphism.", "output": {"entities": {"gene": [{"text": "DECTIN-1", "start": 130, "end": 138}], "disease": [{"text": "inflammation", "start": 36, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The AKT/mTOR signaling pathway was markedly activated in the early phase of cirrhotic portal hypertension induced by BDL in rats.", "output": {"entities": {"gene": [{"text": "AKT", "start": 4, "end": 7}], "disease": [{"text": "portal hypertension", "start": 86, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The effects of cannabinoid receptor agonists and antagonists on pain-related responses to CRD were assessed in rats and in wild-type and CB (1) receptor knock-out mice.", "output": {"entities": {"gene": [{"text": "CB (1", "start": 137, "end": 142}], "disease": [{"text": "pain", "start": 64, "end": 68}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CB (1", "start": 137, "end": 142}, "tail": {"text": "pain", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "Reasons of the reported rare incidence could be related to very few studies focusing on the mutational analysis of BRCA2 in sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 115, "end": 120}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the expression of genes involved in cell growth, invasion and adhesion, i. e., IGF-2, MMP9 and MPZL2 was significantly decreased following siRNA-mediated silencing of PACE4.", "output": {"entities": {"gene": [{"text": "PACE4", "start": 177, "end": 182}], "disease": [{"text": "adhesion", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Treatment of hypoxic tumor cells with HMGB1 and BzATP ligands, respectively, of RAGE and P2X7R, activated a signaling pathway that, through Akt and Erk phosphorylation, determines nuclear accumulation of NF-κB and increases cell invasion.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 80, "end": 84}], "disease": [{"text": "hypoxic", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.", "output": {"entities": {"gene": [{"text": "ARMC5", "start": 0, "end": 5}], "disease": [{"text": "Primary Macronodular Adrenal Hyperplasia", "start": 37, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARMC5", "start": 0, "end": 5}, "tail": {"text": "Primary Macronodular Adrenal Hyperplasia", "start": 37, "end": 77}}]}}, "schema": []}
{"input": "In erythromelalgia case 7, we identified a novel Q10 > K mutation.", "output": {"entities": {"gene": [{"text": "Q10", "start": 49, "end": 52}], "disease": [{"text": "erythromelalgia", "start": 3, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The amino acid sequence of CETP was deduced from the cDNA sequence and its primary and secondary structures were predicted.", "output": {"entities": {"gene": [{"text": "CETP", "start": 27, "end": 31}], "disease": [{"text": "secondary", "start": 87, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Small differences were found in the main clinical and pathologic features; however, tumour burden per family tended to be higher in kindred sharing the founder mutation; in addition, multiple primaries (four or five different tumours in some subjects) were significantly more frequent in patients with the 2269-2270insT than in individuals with MSH2, MLH1 gene mutations or sporadic colorectal neoplasms.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 345, "end": 349}], "disease": [{"text": "sporadic", "start": 374, "end": 382}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to develop a molecular method to characterise both paternal and maternal CFTR alleles in DNA from circulating fetal cells (CFCs) isolated by ISET (isolation by size of epithelial tumour/trophoblastic cells).", "output": {"entities": {"gene": [{"text": "CFTR", "start": 103, "end": 107}], "disease": [{"text": "epithelial tumour", "start": 198, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 62, "end": 66}], "disease": [{"text": "mono", "start": 39, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Dutch Caucasian women were investigated for (i) the role of interleukin-1B (IL-1B) and interleukin-1 receptor antagonist (IL-1RN) gene polymorphisms in tubal pathology (group 1); and (ii) the presence of these gene polymorphisms in C. trachomatis IgG-positive women with and without tubal pathology (group 2).", "output": {"entities": {"gene": [{"text": "IL-1RN", "start": 122, "end": 128}], "disease": [{"text": "trachomatis", "start": 235, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Diffuse parvalbumin expression was seen in all 41 of 41 (100%) chromophobe RCCs and only in 26 of 55 (47%) oncocytomas.", "output": {"entities": {"gene": [{"text": "parvalbumin", "start": 8, "end": 19}], "disease": [{"text": "oncocytomas", "start": 107, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "parvalbumin", "start": 8, "end": 19}, "tail": {"text": "oncocytomas", "start": 107, "end": 118}}]}}, "schema": []}
{"input": "Adhesion to lung epithelium is the first step in this process, therefore we investigated the role of PLB1 in adhesion to a human lung epithelial cell line, A549, using C. neoformans var.", "output": {"entities": {"gene": [{"text": "PLB1", "start": 101, "end": 105}], "disease": [{"text": "adhesion", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.", "output": {"entities": {"gene": [{"text": "APP", "start": 46, "end": 49}], "disease": [{"text": "AD", "start": 123, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APP", "start": 46, "end": 49}, "tail": {"text": "AD", "start": 123, "end": 125}}]}}, "schema": []}
{"input": "Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 93, "end": 97}], "disease": [{"text": "campomelic dysplasia", "start": 44, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 93, "end": 97}, "tail": {"text": "campomelic dysplasia", "start": 44, "end": 64}}]}}, "schema": []}
{"input": "These results define a mechanism for cellular signaling by GHRH and provide the opportunity to examine the role of the GHRH receptor in growth abnormalities that involve the GH axis.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 59, "end": 63}], "disease": [{"text": "abnormalities", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "These results indicate the oncogenic effect of the t (11; 22) translocation is mediated by the EWS/WT1 (-KTS) isoform and that fusion of the EWS amino terminal domain to the WT1 DNA binding domain produces a chimeric product showing a gain of function.", "output": {"entities": {"gene": [{"text": "EWS", "start": 95, "end": 98}], "disease": [{"text": "translocation", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Expression of a EWS-WTI gene-fusion product associated with a t (11; 22) translocation was found in the DSRCT.", "output": {"entities": {"gene": [{"text": "EWS", "start": 16, "end": 19}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Here we identify GIV as a metastasis-related protein whose full-length transcript (GIV-fl) is expressed exclusively in highly invasive colon, breast, and pancreatic carcinoma cells and not in their poorly invasive counterparts.", "output": {"entities": {"gene": [{"text": "GIV", "start": 17, "end": 20}], "disease": [{"text": "pancreatic carcinoma", "start": 154, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, S1P as an intracellular messenger induced the phosphorylation and nuclear translocation of the p65 subunit of NF-kappaB and in turn the expression of E-selectin and monocyte adhesion.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 123, "end": 132}], "disease": [{"text": "adhesion", "start": 187, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "The present study investigated the comparative expression of NCX and NCKX between a constricted DA and patent DA in human ductal-dependant congenital heart disease.", "output": {"entities": {"gene": [{"text": "NCKX", "start": 69, "end": 73}], "disease": [{"text": "congenital heart disease", "start": 139, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The cloning of FALDH and the identification of mutations in SLS patients opens up possibilities for developing therapeutic approaches to ameliorate the neurologic and cutaneous symptoms of the disease.", "output": {"entities": {"gene": [{"text": "FALDH", "start": 15, "end": 20}], "disease": [{"text": "SLS", "start": 60, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FALDH", "start": 15, "end": 20}, "tail": {"text": "SLS", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "The patient, currently aged 12 years, shows a normal physical and psychomotor development. This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate.", "output": {"entities": {"gene": [{"text": "FAH", "start": 189, "end": 192}], "disease": [{"text": "tyrosinemia type I", "start": 124, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAH", "start": 189, "end": 192}, "tail": {"text": "tyrosinemia type I", "start": 124, "end": 142}}]}}, "schema": []}
{"input": "The differentially mutational spectra of the APC, K-ras, and p53 genes in sporadic colorectal cancers from Taiwanese patients.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 61, "end": 70}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We performed whole-exome sequencing and targeted deep sequencing using DNA from the patient' s whole blood to identify a possible NLRP3 somatic mutation.", "output": {"entities": {"gene": [{"text": "NLRP3", "start": 130, "end": 135}], "disease": [{"text": "somatic mutation", "start": 136, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we describe herein a new mutation in the KCNJ5 potassium channel associated with FH-III, responsible for marked alterations of channel function but associated with a mild clinical and hormonal phenotype.", "output": {"entities": {"gene": [{"text": "KCNJ5", "start": 56, "end": 61}], "disease": [{"text": "mild", "start": 181, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Mucin-producing tumors (MPTs) of the pancreas accompanied by carcinomas usually include various grades of dysplasia in the ductal epithelium, and invasive areas are histologically similar to those of common invasive ductal carcinomas, suggesting that MPTs provide a good tool to investigate early stages of pancreatic carcinogenesis.", "output": {"entities": {"gene": [{"text": "MPTs", "start": 24, "end": 28}], "disease": [{"text": "carcinomas", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that mutation of the class I beta-tubulin gene is unlikely to play an important role in the mechanism of resistance to paclitaxel in breast cancer.", "output": {"entities": {"gene": [{"text": "class I beta-tubulin", "start": 41, "end": 61}], "disease": [{"text": "breast cancer", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether KIR and HLA genes could influence the risk of HBV-associated HCC development, 144 HBV-infected patients with HCC and 189 well-matched HBV infectors with chronic hepatitis or cirrhosis as non-HCC controls were enrolled in this study.", "output": {"entities": {"gene": [{"text": "KIR", "start": 23, "end": 26}], "disease": [{"text": "chronic hepatitis", "start": 176, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "breast cancer", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "breast cancer", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Over the past few years, apolipoprotein E (ApoE) receptors, also known as LDL receptor-related proteins, have distinguished themselves as functionally diverse signaling receptors with pivotal roles not only in the vascular system but also in the nervous system and during development.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 25, "end": 41}], "disease": [{"text": "nervous system", "start": 246, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Thus, the present study provided no evidence for statistically significant associations between the 5-HT2A polymorphisms and the personality traits.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 100, "end": 106}], "disease": [{"text": "personality traits", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The dose-dependent effects observed with elevated HMGB1 included decreased LVDP, decreased left ventricular (LV) + dP/dt (max), decreased absolute value of LV-dP/dt (min), and increased LV end-diastolic pressure.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 50, "end": 55}], "disease": [{"text": "diastolic pressure", "start": 193, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Two unrelated girls had early onset of nystagmus and epilepsy, absent psychomotor development, and almost complete absence of myelin on cerebral MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 145, "end": 148}], "disease": [{"text": "epilepsy", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "To clarify the function of integrin alpha (v) beta3 in the early stage of liver metastasis, we investigated the interactions of metastatic cells with their target organ under the actual blood flow by using positron emission tomography (PET).", "output": {"entities": {"gene": [{"text": "beta3", "start": 46, "end": 51}], "disease": [{"text": "liver metastasis", "start": 74, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "DNA was analyzed for polymorphisms of fibrinogen, prothrombin (factor II), factor V, factor VII and plasminogen activator inhibitor type 1, all of which are associated with gain of function of the protein.", "output": {"entities": {"gene": [{"text": "factor II", "start": 63, "end": 72}], "disease": [{"text": "fibrinogen", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Even though the Th1 T cell-rich myocarditis plays a pivotal role in CCC pathogenesis, little is known about the factors controlling inflammatory cell migration to CCC myocardium.", "output": {"entities": {"gene": [{"text": "Th1", "start": 16, "end": 19}], "disease": [{"text": "myocarditis", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "While there are reports that classical selenium-dependent glutathione peroxidase (Se-GPX1) activity is decreased during iron deficiency, the relationship between tissue iron status and Se-GPX1 activity remains speculative.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 85, "end": 89}], "disease": [{"text": "iron deficiency", "start": 120, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, PF-06463922 treatment led to regression of EML4-ALK-driven brain metastases, leading to prolonged mouse survival, in a superior manner.", "output": {"entities": {"gene": [{"text": "ALK", "start": 61, "end": 64}], "disease": [{"text": "regression", "start": 42, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Very tight linkage could be excluded between breast cancer and ABO, GC, GPT, MNS, and PGM1 for some of the different linkage analyses.", "output": {"entities": {"gene": [{"text": "PGM1", "start": 86, "end": 90}], "disease": [{"text": "breast cancer", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We examined the interaction of angiotensin I-converting enzyme (ACE), angiotensinogen (AGT), and endothelial nitric oxide synthase (NOS3) polymorphisms with environmental factors (gender, age, body mass index, glycemia, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, estimated glomerular filtration rate, and urinary sodium excretion) in 70 resistant, 80 well-controlled hypertensive patients, and 70 normotensive controls.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 132, "end": 136}], "disease": [{"text": "body mass index", "start": 193, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In this review, the authors provide evidences that imply the role of tumor necrosis factor-alpha (TNF-alpha) in the pathogenesis of diabetic complications, especially diabetic polyneuropathy.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 98, "end": 107}], "disease": [{"text": "diabetic polyneuropathy", "start": 167, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Simultaneous downregulation of Bcl-x (L) was an additional requirement for cisplatin hypersensitivity, as p53-dependent cell death could be antagonized by exogenous Bcl-x (L).", "output": {"entities": {"gene": [{"text": "p53", "start": 106, "end": 109}], "disease": [{"text": "hypersensitivity", "start": 85, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Several single nucleotide polymorphisms (SNPs) in the promoters of EP2, TBX21, COX-2, Fc epsilon RIbeta, and TBXA2R were associated with AIA, while an Fc epsilon RIalpha promoter polymorphism was associated with AIU.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 79, "end": 84}], "disease": [{"text": "AIA", "start": 137, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 79, "end": 84}, "tail": {"text": "AIA", "start": 137, "end": 140}}]}}, "schema": []}
{"input": "Here we show that a single intracerebral injection of 17β-estradiol to ovariectomized female rats immediately after ischemia rescues CA1 neurons destined to die.", "output": {"entities": {"gene": [{"text": "CA1", "start": 133, "end": 136}], "disease": [{"text": "ischemia", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "c-MET was found to be expressed in normal B cells and in B-ALL patients with the t (12; 21) TEL-AML1 translocation, but it is not expressed in the most part of B-ALL without the t (12; 21).", "output": {"entities": {"gene": [{"text": "MET", "start": 2, "end": 5}], "disease": [{"text": "translocation", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The KCOT-1 cells were characterized by growth rate, gene expression profiles of major tooth enamel matrix proteins (EMPs), amelogenin (AMELX), enamelin (ENAM), ameloblastin (AMBN), amelotin (AMTN), tumor-related proteins enamelysin (MMP-20), kallikrein-4 (KLK-4), and odontogenic ameloblast-associated protein (ODAM) using quantitative real-time reverse transcription-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "ENAM", "start": 153, "end": 157}], "disease": [{"text": "tumor", "start": 198, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "CALM-AF10 mice infected with the MOL4070LTR retrovirus developed acute leukemia, and ligation-mediated polymerase chain reaction was used to identify retroviral insertions at 19 common insertion sites, including Zeb2, Nf1, Mn1, Evi1, Ift57, Mpl, Plag1, Kras, Erg, Vav1, and Gata1.", "output": {"entities": {"gene": [{"text": "Plag1", "start": 246, "end": 251}], "disease": [{"text": "acute leukemia", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Tumour tissues were collected from patients with oesophageal (28 samples), gastric (20), pancreatic (five), bile duct (one) and prostatic (52) carcinomas as well as 30 benign tissue samples, for assessment of dermcidin mRNA levels using real-time PCR.", "output": {"entities": {"gene": [{"text": "dermcidin", "start": 209, "end": 218}], "disease": [{"text": "carcinomas", "start": 143, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "In xenografts, there was a 4-to 5-fold delay in the generation of palpable HYAL1-AS tumors, and the weight of HYAL1-AS tumors was 9-to 17-fold less than vector and HYAL1-S tumors, respectively (P < 0. 001).", "output": {"entities": {"gene": [{"text": "HYAL1", "start": 75, "end": 80}], "disease": [{"text": "weight", "start": 100, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We compared the mRNA expression level of TRF1, TRF2, POT1, and RAP1 between tumor and adjacent normal tissues from 148 patients with non-small cell lung cancer using real-time quantitative PCR.", "output": {"entities": {"gene": [{"text": "POT1", "start": 53, "end": 57}], "disease": [{"text": "non-small cell lung cancer", "start": 133, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "There was evidence for interaction between XRCC1 399Gln and smoking that was stronger among women than men.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 43, "end": 48}], "disease": [{"text": "smoking", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "USP6 gene rearrangements occur preferentially in giant cell reparative granulomas of the hands and feet but not in gnathic location.", "output": {"entities": {"gene": [{"text": "USP6 gene", "start": 0, "end": 9}], "disease": [{"text": "granulomas", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Changes in genes involved in calcium homeostasis may have specific clinical importance since the second messenger Ca2 + is known to modulate various cellular processes, including cell proliferation, cell death and cell motility, which affects prostate cancer tumor progression and responsiveness to therapy.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 114, "end": 117}], "disease": [{"text": "prostate cancer", "start": 243, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.", "output": {"entities": {"gene": [{"text": "MKS1", "start": 22, "end": 26}], "disease": [{"text": "Joubert syndrome", "start": 38, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MKS1", "start": 22, "end": 26}, "tail": {"text": "Joubert syndrome", "start": 38, "end": 54}}]}}, "schema": []}
{"input": "No release of histamine and substance P in capsaicin-induced neurogenic inflammation in intact human skin in vivo: a microdialysis study.", "output": {"entities": {"gene": [{"text": "substance P", "start": 28, "end": 39}], "disease": [{"text": "neurogenic inflammation", "start": 61, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance P", "start": 28, "end": 39}, "tail": {"text": "neurogenic inflammation", "start": 61, "end": 84}}]}}, "schema": []}
{"input": "We conclude TCF7L2, a risk factor for T2D in the general population, is also a risk factor for T2D in African-American patients with SCZ or schizoaffective disorder.", "output": {"entities": {"gene": [{"text": "TCF7L2", "start": 12, "end": 18}], "disease": [{"text": "schizoaffective disorder", "start": 140, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TCF7L2", "start": 12, "end": 18}, "tail": {"text": "schizoaffective disorder", "start": 140, "end": 164}}]}}, "schema": []}
{"input": "By direct sequencing of genomic DNA, we found two different missense mutations in the third exon of NURR1 in two schizophrenic patients and another missense mutation in the same exon in an individual with manic-depressive disorder.", "output": {"entities": {"gene": [{"text": "NURR1", "start": 100, "end": 105}], "disease": [{"text": "manic", "start": 205, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that the HH-signaling pathway is an interesting therapeutic target for a subset of patients with CLL, characterized by high GLI1 and PTCH1 transcript levels, and all patients with trisomy 12 and indicate HH-blocking Abs to be favorable over SMO inhibitors in overcoming stroma-mediated protective effects.", "output": {"entities": {"gene": [{"text": "SMO", "start": 265, "end": 268}], "disease": [{"text": "trisomy 12", "start": 204, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In VAT, CIDEC/FSP27 and PLIN1 gene expression decreased with body mass index, percent fat mass, fasting glucose, fasting insulin, HOMA and were positively associated with adipogenic (PPARG, GLUT4, FASN and ACACA) and mitochondrial biogenesis (PPARGC1A, PPARGC1B, TFAM and MT-CO3)-related genes.", "output": {"entities": {"gene": [{"text": "MT-CO3", "start": 272, "end": 278}], "disease": [{"text": "body mass index", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, we have now scanned for HESX1 mutations in 228 patients with a broad spectrum of congenital pituitary defects, ranging in severity from isolated growth hormone deficiency to SOD with panhypopituitarism.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 37, "end": 42}], "disease": [{"text": "SOD", "start": 187, "end": 190}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 37, "end": 42}, "tail": {"text": "SOD", "start": 187, "end": 190}}]}}, "schema": []}
{"input": "LOX catalytic activity is significantly reduced under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "LOX", "start": 0, "end": 3}], "disease": [{"text": "hypoxic", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Clinically, the levels of mdig can be applied to predict the disease progression, the first progression (FP), in non-small cell lung cancer (NSCLC) patients.", "output": {"entities": {"gene": [{"text": "mdig", "start": 26, "end": 30}], "disease": [{"text": "non-small cell lung cancer", "start": 113, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We show that a point mutation causing hemophilia B changes the amino acid at position-4 in the propeptide region of factor IX from an arginine to a glutamine, which results in the expression of a stable longer protein with 18 additional amino acids of the N-terminal propeptide region still attached.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 116, "end": 125}], "disease": [{"text": "hemophilia B", "start": 38, "end": 50}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 116, "end": 125}, "tail": {"text": "hemophilia B", "start": 38, "end": 50}}]}}, "schema": []}
{"input": "Analysis of the tumour tissue revealed loss of heterozygosity at the NF1 gene locus but a normal karyotype and an absence of microsatellite instability.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 69, "end": 77}], "disease": [{"text": "microsatellite instability", "start": 125, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Whereas rbc of either Kcc1 (-/-) or Kcc3 (-/-) mice were of normal density, rbc of Kcc1 (-/-) Kcc3 (-/-) mice exhibited defective volume regulation, including increased mean corpuscular volume, decreased density, and increased susceptibility to osmotic lysis.", "output": {"entities": {"gene": [{"text": "Kcc1", "start": 22, "end": 26}], "disease": [{"text": "mean corpuscular volume", "start": 169, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Comparative genomic hybridization of adenomas from Rassf1a (-/-); Apc (+/Min) mice revealed no evidence of aneuploidy or gross chromosomal instability (no difference to adenomas from Rassf1a (+/+); Apc (+/Min) mice).", "output": {"entities": {"gene": [{"text": "Rassf1a", "start": 51, "end": 58}], "disease": [{"text": "aneuploidy", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the effects of metformin in the liver of PON1-deficient mice which, untreated, present a mild degree of liver steatosis.", "output": {"entities": {"gene": [{"text": "PON1", "start": 54, "end": 58}], "disease": [{"text": "liver steatosis", "start": 117, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PON1", "start": 54, "end": 58}, "tail": {"text": "liver steatosis", "start": 117, "end": 132}}]}}, "schema": []}
{"input": "Individuals with ADHD have significant impairment in family and peer relations, academic functioning, and show high co-morbidity with a wide range of psychiatric disorders including oppositional defiant disorder (ODD), conduct disorder (CD), anxiety disorder, depression, substance abuse, and pervasive developmental disorder (PDD).", "output": {"entities": {"gene": [{"text": "ODD", "start": 213, "end": 216}], "disease": [{"text": "substance abuse", "start": 272, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "This analysis confirms that the NAT2 genotype is a risk factor for bladder cancer by interacting with smoking or occupational exposures.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 32, "end": 36}], "disease": [{"text": "smoking", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.", "output": {"entities": {"gene": [{"text": "TBX20", "start": 19, "end": 24}], "disease": [{"text": "patent foramen ovale", "start": 75, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "To investigate the genetic alterations during transformation of ovarian endometriosis into cancer, the authors analysed mutations of tumour-related genes (PTEN and p53) in EAOC cases (n = 23, group 1), including 19 cases which were detected co-existence of endometriosis and cancer and four cases which fulfilled the histological criteria in malignant transformation of endometriosis (OCEMs), and in atypical hyperplasia ovarian endometriosis (aEMs) (n = 10, group 2), as well as in solitary ovarian endometriosis (EMs) (n = 20, group 3), simultaneously, to study the correlation of the two genes in the development and progression of the ovarian endometriosis malignancy.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 155, "end": 159}], "disease": [{"text": "ovarian endometriosis", "start": 64, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the pace and timing of puberty of such children is normal and no increased incidence of premature adrenarche could be discerned in ART children in the absence of restricted fetal growth.", "output": {"entities": {"gene": [{"text": "ART", "start": 141, "end": 144}], "disease": [{"text": "premature adrenarche", "start": 98, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "This suggests that PKC-alpha is required for GRK2 and GRK3 translocation to the membrane, where GRK can inactivate ORL1 and mu opioid receptors upon rechallenge with the appropriate agonist.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 45, "end": 49}], "disease": [{"text": "translocation", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Our results reveal promising therapeutic potential for Bax gene silencing in Al-induced neurodegeneration.", "output": {"entities": {"gene": [{"text": "Bax", "start": 55, "end": 58}], "disease": [{"text": "neurodegeneration", "start": 88, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Bax", "start": 55, "end": 58}, "tail": {"text": "neurodegeneration", "start": 88, "end": 105}}]}}, "schema": []}
{"input": "High frequency of allelic loss at the BRCA2 locus has been reported in sporadic breast tumors, but somatic mutations of BRCA2 are very rare.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 38, "end": 43}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In human endometrial cancer, the fourth most common cancer in women, tumor suppressor phosphatase tensin homologue (PTEN) is frequently mutated.", "output": {"entities": {"gene": [{"text": "tensin", "start": 98, "end": 104}], "disease": [{"text": "cancer", "start": 21, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "The PAX6 mutation spectrum in Chinese aniridia patients is comparable to that reported in other ethnic groups.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 4, "end": 8}], "disease": [{"text": "aniridia", "start": 38, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 4, "end": 8}, "tail": {"text": "aniridia", "start": 38, "end": 46}}]}}, "schema": []}
{"input": "Median PFS in BRCA1, BRCA2 and sporadic patients was 2. 1 [95% confidence interval (CI) 1. 9-2. 5] years (P = 0. 006), 5. 6 (95% CI 0. 0-11. 5) years (P = 0. 008) and 1. 3 (95% CI 1. 1-1. 5) years, respectively.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 21, "end": 26}], "disease": [{"text": "sporadic", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Severe adverse events included grade 3 skin rash (15%), hypertension (17%), aspartate transaminase/alanine aminotransferase elevation (17%), proteinuria (7%), intracranial hemorrhage (2%), and grade 4 perforation of the digestive tract (2%).", "output": {"entities": {"gene": [{"text": "alanine aminotransferase", "start": 99, "end": 123}], "disease": [{"text": "proteinuria", "start": 141, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "This study shows that the GST/N-terminal GPIIIa fusion proteins contain conformational epitopes that mimic those involved in alloimmunization, and that regions other than the amino terminal 66 amino acids of GPIIIa are not likely to contain or be required for the development of functional PlA1 epitopes.", "output": {"entities": {"gene": [{"text": "GST", "start": 26, "end": 29}], "disease": [{"text": "alloimmunization", "start": 125, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Using knock-out mice and primary brain cells, we connect a key pattern recognition receptor, Toll-like receptor 2 (TLR2), to hyperbilirubinemia-induced signaling.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 115, "end": 119}], "disease": [{"text": "hyperbilirubinemia", "start": 125, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Both drugs blocked the hypoxia-induced expression of LOX and LOXL proteins, collagen cross-linking, CD11b ⁺ BMDC recruitment, and lung metastasis in an orthotopic breast cancer model.", "output": {"entities": {"gene": [{"text": "LOX", "start": 53, "end": 56}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Cardiac nuclear high mobility group box 1 prevents the development of cardiac hypertrophy and heart failure.", "output": {"entities": {"gene": [{"text": "high mobility group box 1", "start": 16, "end": 41}], "disease": [{"text": "cardiac hypertrophy", "start": 70, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This study identifies GPC5 as a new susceptibility gene for nephrotic syndrome and implicates GPC5 as a promising therapeutic target for reducing podocyte vulnerability in glomerular disease.", "output": {"entities": {"gene": [{"text": "GPC5", "start": 22, "end": 26}], "disease": [{"text": "nephrotic syndrome", "start": 60, "end": 78}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "GPC5", "start": 22, "end": 26}, "tail": {"text": "nephrotic syndrome", "start": 60, "end": 78}}]}}, "schema": []}
{"input": "The elevation in cytokine expression preceded the increase in matrix-metalloproteinase-9 in the infarct area as well as the increase in ANP and collagen expression in the non-infarcted myocardium.", "output": {"entities": {"gene": [{"text": "ANP", "start": 136, "end": 139}], "disease": [{"text": "infarct", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We describe an autosomal dominant inherited pedigree with ZASP-MFM that is in line with the typical phenotype of distal myopathy without cardiomyopathy and neuropathy, while mild asymmetrical muscle atrophy can be observed in some affected members.", "output": {"entities": {"gene": [{"text": "ZASP", "start": 58, "end": 62}], "disease": [{"text": "mild", "start": 174, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "In FISH assay, 48. 9 ± 9. 7% of the cancerous cells were monoploid for p53 probe signals, 41. 0 ± 9. 5% were diploid, and 10. 2 ± 7. 8% were polyploid.", "output": {"entities": {"gene": [{"text": "FISH", "start": 3, "end": 7}], "disease": [{"text": "polyploid", "start": 141, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Transfection of LP 101 cells with plasmid containing a single base pair deletion from the NF-kapp B binding motif abolished the MM adhesion-induced increase in CAT activity, whereas transfection with plasmid containing three copies of synthetic NF-kappa B sequence resulted in an 8. 1 +/-0. 7-fold increase in CAT activity related to MM adhesion (n = 3, P <. 05).", "output": {"entities": {"gene": [{"text": "CAT", "start": 160, "end": 163}], "disease": [{"text": "adhesion", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Variants of GSTP1 c. 313A > G p. Ile (105) Val were at increased risk of myelosuppression (P =. 024) and cardiac damage (P =. 008).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 12, "end": 17}], "disease": [{"text": "myelosuppression", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 83, "end": 92}], "disease": [{"text": "Epidermolytic hyperkeratosis", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 83, "end": 92}, "tail": {"text": "Epidermolytic hyperkeratosis", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "In induced sputum cell pellets from 37 asthmatic patients and 15 healthy control subjects, PCR was used to profile gene expression of the epithelial cell signature of IL-13 activation (periostin, CLCA1, and SERPINB2), TH2 genes (IL4, IL5, and IL13), and other genes associated with airway TH2 inflammation.", "output": {"entities": {"gene": [{"text": "IL4", "start": 229, "end": 232}], "disease": [{"text": "inflammation", "start": 293, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "We analysed by RT-PCR the expression of mRNAs coding for the human variants of Gln transporters: ASCT2 (system ASC), SNAT1 [ATA1] (system A), SNAT3 [SN1] and SNAT5 [SN2] (system N), in samples of human malignant gliomas WHO grades III/IV (anaplastic astrocytoma and glioblastoma), glioma-derived cell cultures, brain metastases from peripheral organs, and control brain tissue.", "output": {"entities": {"gene": [{"text": "SN2", "start": 165, "end": 168}], "disease": [{"text": "brain metastases", "start": 311, "end": 327}]}, "relations": {}}, "schema": []}
{"input": "We screened for the CHEK2 * 1100delC variant in 419 men diagnosed with prostate cancer in southern Sweden, 145 of whom were sporadic cases that were divided into two subgroups depending on whether they were diagnosed before (n = 64) or after (n = 81) the age of 55 years.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 20, "end": 25}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In multivariate analysis, the presence of EGFR deletion exon 19 or L858R EGFR mutations in adenocarcinoma patients predicted longer TTF.", "output": {"entities": {"gene": [{"text": "TTF", "start": 132, "end": 135}], "disease": [{"text": "adenocarcinoma", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "CDH9", "start": 84, "end": 88}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDH9", "start": 84, "end": 88}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "Further analyses of rhabdomyosarcoma cell lines with RT-PCR revealed that in Rh30 cells, an alveolar rhabdomyosarcoma cell line, there are three separate deletions/mutations of the ATM mRNA.", "output": {"entities": {"gene": [{"text": "ATM", "start": 181, "end": 184}], "disease": [{"text": "alveolar rhabdomyosarcoma", "start": 92, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "FSHR inactivating mutations may cause primary or secondary amenorrhea, infertility, and premature ovarian failure (POF), whereas activating mutations can predispose to ovarian hyperstimulation syndrome (OHSS) as a consequence of exogenous FSH administration, or with a spontaneous onset.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 0, "end": 4}], "disease": [{"text": "infertility", "start": 71, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We studied the GBE gene in patients with various presentations of GSD-IV.", "output": {"entities": {"gene": [{"text": "GBE", "start": 15, "end": 18}], "disease": [{"text": "GSD-IV", "start": 66, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GBE", "start": 15, "end": 18}, "tail": {"text": "GSD-IV", "start": 66, "end": 72}}]}}, "schema": []}
{"input": "RESULTS: The expression frequencies of P-gp and LRP were significantly higher in adenocarcinomas from non-smoking patients; the expression frequency of LRP was significantly higher in cancer tissue from female patients.", "output": {"entities": {"gene": [{"text": "P-gp", "start": 39, "end": 43}], "disease": [{"text": "smoking", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Thus, isolates belonging to ET1, ET2 and ET8 were responsible for outbreaks or for sporadic infections, whereas isolates of other ETs were responsible for only sporadic infections.", "output": {"entities": {"gene": [{"text": "ET1", "start": 28, "end": 31}], "disease": [{"text": "infections", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "3' UTR MSs demonstrated MSI frequencies in MSI-H tumors higher than the 99% upper limit predicted by MS length for RB1-inducible coiled-coil 1 (RB1CC1, mutation frequency 68. 4%), NUAK family SNF1-like kinase 1 (NUAK1, 31. 0%), and Rtf1, Paf1/RNA polymerase II complex component, homolog (RTF1, 25. 0%).", "output": {"entities": {"gene": [{"text": "RTF1", "start": 289, "end": 293}], "disease": [{"text": "tumors", "start": 49, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We report a case of severe myelofibrosis in a patient with HOA.", "output": {"entities": {"gene": [{"text": "HOA", "start": 59, "end": 62}], "disease": [{"text": "myelofibrosis", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In two patients with der (6) t (1; 6) (q21-23; p21. 3), we were able to map the precise translocation breakpoints, which involved KCNN3 and GUSBP2 in one case and HYDIN2 in another.", "output": {"entities": {"gene": [{"text": "KCNN3", "start": 130, "end": 135}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Here we report on a female infant with a de novo balanced translocation 46, XX, t (7; 12) (p21. 2; p12. 3) and presenting at birth brachycephaly, antimongolic palpebral fissures, ocular hypertelorism, broad nose with low nasal bridge and low-set ears.", "output": {"entities": {"gene": [{"text": "p21", "start": 91, "end": 94}], "disease": [{"text": "ocular hypertelorism", "start": 179, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The role of Pin1 in hepatocarcinogenesis, particularly in HBV-related HCC, was investigated.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 12, "end": 16}], "disease": [{"text": "hepatocarcinogenesis", "start": 20, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "OPG released by T98G cells was biologically active in that it inhibited Apo2L/TRAIL-induced apoptosis in sensitive glioma cells.", "output": {"entities": {"gene": [{"text": "OPG", "start": 0, "end": 3}], "disease": [{"text": "glioma", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "After multiple regression analysis, systolic blood pressure (SBP) and diastolic blood pressure (DBP) did not differ significantly according to their tobacco status excepted for DBP in men.", "output": {"entities": {"gene": [{"text": "DBP", "start": 96, "end": 99}], "disease": [{"text": "systolic blood pressure", "start": 36, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Fourteen markers were genotyped within two alcohol metabolism genes [Alcohol dehydrogenase (ADH) gene clusters (ADH1B and ADH1C) and Aldehyde dehydrogenase (ALDH2)], one microsomal ethanol oxidizing enzyme cytochrome p450 (CYP2E1) and three oxidative stress response (OSR) genes (MnSOD, GSTT1 and GSTM1) among 490 Bengali individuals (322 ALD and 168 control) from Eastern and North-Eastern India and validation was performed in a new cohort of 150 Bengali patients including 100 ALD and 50 advanced non-alcoholic steatohepatitis (NASH).", "output": {"entities": {"gene": [{"text": "ADH1C", "start": 122, "end": 127}], "disease": [{"text": "alcoholic steatohepatitis", "start": 504, "end": 529}]}, "relations": {}}, "schema": []}
{"input": "Thus, VIP appears to have an ameliorating effect on spatial cognitive deficits induced by scopolamine in the rat.", "output": {"entities": {"gene": [{"text": "VIP", "start": 6, "end": 9}], "disease": [{"text": "cognitive deficits", "start": 60, "end": 78}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "VIP", "start": 6, "end": 9}, "tail": {"text": "cognitive deficits", "start": 60, "end": 78}}]}}, "schema": []}
{"input": "Our data suggest an association between MHC class I and class II (HLA-A * 29, HLA-B * 51, HLA-DRB1 * 15, and HLA-DQB1 * 06) and susceptibility to SLE in the Saudi population.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 90, "end": 98}], "disease": [{"text": "SLE", "start": 146, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DRB1", "start": 90, "end": 98}, "tail": {"text": "SLE", "start": 146, "end": 149}}]}}, "schema": []}
{"input": "IL-4 is a key cytokine in the development of AHR and airway reconstruction in asthmatic patients and might be an important component in exacerbation of AHR during pulmonary mycoplasma infection.", "output": {"entities": {"gene": [{"text": "AHR", "start": 45, "end": 48}], "disease": [{"text": "mycoplasma infection", "start": 173, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Postinfarction treatment with an adenoviral vector expressing hepatocyte growth factor relieves chronic left ventricular remodeling and dysfunction in mice.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 62, "end": 86}], "disease": [{"text": "ventricular remodeling", "start": 109, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Both ictal hyperhidrosis and interictal diarrhea ameliorated upon acetazolamide intake, the typical treatment for EA2.", "output": {"entities": {"gene": [{"text": "EA2", "start": 114, "end": 117}], "disease": [{"text": "diarrhea", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of polymorphisms in the MIF gene with bone mineral density (BMD) and bone loss in 1002 elderly women using MIF promoter polymorphisms MIF-CATT (5-8) and rs755622 (G/C) located-794 and-173 bp upstream of the transcriptional start site.", "output": {"entities": {"gene": [{"text": "MIF", "start": 56, "end": 59}], "disease": [{"text": "bone mineral density", "start": 70, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TMEM231 cause Meckel-Gruber syndrome.", "output": {"entities": {"gene": [{"text": "TMEM231", "start": 13, "end": 20}], "disease": [{"text": "Meckel-Gruber syndrome", "start": 27, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM231", "start": 13, "end": 20}, "tail": {"text": "Meckel-Gruber syndrome", "start": 27, "end": 49}}]}}, "schema": []}
{"input": "Understanding the molecular pathways that contribute to the aggressive behavior of HER2-positive breast cancers may aid in the development of novel therapeutic interventions.", "output": {"entities": {"gene": [{"text": "HER2", "start": 83, "end": 87}], "disease": [{"text": "aggressive behavior", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Thus, biochemical screening for chromosome abnormalities may be practicable in the first trimester using free beta human chorionic gonadotrophin in combination with AFP and maternal age.", "output": {"entities": {"gene": [{"text": "AFP", "start": 165, "end": 168}], "disease": [{"text": "chromosome abnormalities", "start": 32, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).", "output": {"entities": {"gene": [{"text": "PDCD2", "start": 157, "end": 162}], "disease": [{"text": "endogenous depression", "start": 33, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDCD2", "start": 157, "end": 162}, "tail": {"text": "endogenous depression", "start": 33, "end": 54}}]}}, "schema": []}
{"input": "Our results demonstrate for the first time that 5-HT2B receptors are essential for isoproterenol-induced cardiac hypertrophy, which involves the regulation of interleukin-6, interleukin-1beta, and tumor necrosis factor-alpha cytokine production by cardiac fibroblasts.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor-alpha", "start": 197, "end": 224}], "disease": [{"text": "cardiac hypertrophy", "start": 105, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor-alpha", "start": 197, "end": 224}, "tail": {"text": "cardiac hypertrophy", "start": 105, "end": 124}}]}}, "schema": []}
{"input": "An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 95, "end": 99}], "disease": [{"text": "Marfan syndrome", "start": 147, "end": 162}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 95, "end": 99}, "tail": {"text": "Marfan syndrome", "start": 147, "end": 162}}]}}, "schema": []}
{"input": "In brief, the c-Myc-mediated transcriptional repression of miR-15-16 in hypoxia is induced by increased HIF-2α and promoted tumor angiogenesis and hematogenous metastasis by the further loss of post-transcriptional inhibition of FGF2.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 229, "end": 233}], "disease": [{"text": "hypoxia", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that Gitelman syndrome requires 2 compound heterozygotic mutations and the coexistence of the large deletion in the C-terminal domain with Met672Ile substitution of the TSC could impair the transporter activity underling the hypokalemia and hypomagnesemia in this patient.", "output": {"entities": {"gene": [{"text": "TSC", "start": 191, "end": 194}], "disease": [{"text": "Gitelman syndrome", "start": 27, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSC", "start": 191, "end": 194}, "tail": {"text": "Gitelman syndrome", "start": 27, "end": 44}}]}}, "schema": []}
{"input": "This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.", "output": {"entities": {"gene": [{"text": "SOBP", "start": 25, "end": 29}], "disease": [{"text": "psychosis", "start": 80, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOBP", "start": 25, "end": 29}, "tail": {"text": "psychosis", "start": 80, "end": 89}}]}}, "schema": []}
{"input": "ACE DD genotype is related to endothelium-dependent arterial dilation in the early stage of type 2 diabetes mellitus and in healthy individuals.", "output": {"entities": {"gene": [{"text": "ACE", "start": 0, "end": 3}], "disease": [{"text": "dilation", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "It has been argued that reductions in T cell activation and/or viral fitness might result in preserved target cells and an altered relationship between the level of viremia and the rate of CD4 + T cell loss.", "output": {"entities": {"gene": [{"text": "CD4", "start": 189, "end": 192}], "disease": [{"text": "viremia", "start": 165, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Transcriptional induction of UGT1A1 was also observed in diabetes and starvation but not with acetone treatment, which apparently caused translational stabilization of the enzyme protein.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 29, "end": 35}], "disease": [{"text": "diabetes", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Astroglial cytoprotection by erythropoietin pre-conditioning: implications for ischemic and degenerative CNS disorders.", "output": {"entities": {"gene": [{"text": "erythropoietin", "start": 29, "end": 43}], "disease": [{"text": "CNS disorders", "start": 105, "end": 118}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "erythropoietin", "start": 29, "end": 43}, "tail": {"text": "CNS disorders", "start": 105, "end": 118}}]}}, "schema": []}
{"input": "Furthermore, GPER silencing in CAFs inhibited hypoxia-increased CTGF expression in CAFs and breast cancer cells cultured with CM from CAFs under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 64, "end": 68}], "disease": [{"text": "hypoxic", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "To elucidate disease-associated malformations such as frequent abortions, fetal edema, cystic hygroma, or cardiac defects, we studied Chrna1, Chrnb1, Chrnd, Chrng, and Rapsn in mouse embryos and found expression in skeletal muscles but also in early somite development.", "output": {"entities": {"gene": [{"text": "Chrng", "start": 157, "end": 162}], "disease": [{"text": "fetal edema", "start": 74, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Naringenin ameliorates inflammation and cell proliferation in benzo (a) pyrene induced pulmonary carcinogenesis by modulating CYP1A1, NFκB and PCNA expression.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 143, "end": 147}], "disease": [{"text": "inflammation", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Strikingly however, the Werner helicase (WRN), which in its mutated form causes premature aging and cancer and which was linked to the Rad51-independent single-strand annealing (SSA) DSB repair pathway, is required for SIRT1-mediated HR.", "output": {"entities": {"gene": [{"text": "SSA", "start": 178, "end": 181}], "disease": [{"text": "premature aging", "start": 80, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, FLT3/ITD and MLL/ITD are mainly observed in uncharacteristic cases of t-AML with a normal karyotype and unrelated to previous therapy for which reason they could represent sporadic cases of de novoAML.", "output": {"entities": {"gene": [{"text": "FLT3", "start": 15, "end": 19}], "disease": [{"text": "sporadic", "start": 187, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "PDGFRA, PDGFRB, and EGFR were immunohistochemically, biochemically, cytogenetically, and mutationally analyzed along with the detection of their cognate ligands in 16 neurofibromatosis type 1 (NF1)-related and 11 sporadic MPNSTs.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 20, "end": 24}], "disease": [{"text": "sporadic", "start": 213, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The expression pattern of TRAIL mRNA, however, was variable among four patients with membranous nephropathy.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 26, "end": 31}], "disease": [{"text": "membranous nephropathy", "start": 85, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Among the three groups, classified based on the diagnosis of periodontal diseases (healthy/gingivitis, early periodontitis and moderate/advanced periodontitis), the relative expression level of NEP mRNA was significantly increased in the early periodontitis group and in the moderate/advanced periodontitis group compared with that in the healthy/gingivitis group.", "output": {"entities": {"gene": [{"text": "NEP", "start": 194, "end": 197}], "disease": [{"text": "periodontitis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of beta2-microglobulin is associated with poor survival in patients with oral cavity squamous cell carcinoma and contributes to oral cancer cell migration and invasion.", "output": {"entities": {"gene": [{"text": "beta2", "start": 18, "end": 23}], "disease": [{"text": "oral cancer", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Androgen-dependent expression of the gastrin-releasing peptide receptor in human prostate tumor xenografts.", "output": {"entities": {"gene": [{"text": "gastrin-releasing peptide receptor", "start": 37, "end": 71}], "disease": [{"text": "prostate tumor", "start": 81, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gastrin-releasing peptide receptor", "start": 37, "end": 71}, "tail": {"text": "prostate tumor", "start": 81, "end": 95}}]}}, "schema": []}
{"input": "A functional study has divided the PRODH missense mutations into three groups: those leading to mild, moderate, or severe reduction of POX activity.", "output": {"entities": {"gene": [{"text": "POX", "start": 135, "end": 138}], "disease": [{"text": "mild", "start": 96, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Although no SNP reached genome-wide significance, six achieved P-values < 1 × 10 (-5) with variants in three genes (MT1X, ATXN1 and VLDLR) implicated in disordered gambling.", "output": {"entities": {"gene": [{"text": "MT1X", "start": 116, "end": 120}], "disease": [{"text": "gambling", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that PAFR is overexpressed in non-small cell lung cancer (NSCLC) as well as in breast, colorectal, and gastric carcinomas.", "output": {"entities": {"gene": [{"text": "PAFR", "start": 19, "end": 23}], "disease": [{"text": "non-small cell lung cancer", "start": 44, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Despite an extensive search, no activating ACTH receptor mutations have been found in adrenal tumors, excluding the ACTH receptor as a relevant oncogene for adrenal tumorigenesis.", "output": {"entities": {"gene": [{"text": "ACTH receptor", "start": 43, "end": 56}], "disease": [{"text": "tumorigenesis", "start": 165, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "The downregulation of Tmprss6 by inflammation in mice is not dependent on the Bmp-Smad pathway but occurs through a decrease in Stat5 phosphorylation.", "output": {"entities": {"gene": [{"text": "Stat5", "start": 128, "end": 133}], "disease": [{"text": "inflammation", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Here we report the first patient with Dravet syndrome associated with a recessive mutation in SCN1B (p. R125C).", "output": {"entities": {"gene": [{"text": "SCN1B", "start": 94, "end": 99}], "disease": [{"text": "Dravet syndrome", "start": 38, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN1B", "start": 94, "end": 99}, "tail": {"text": "Dravet syndrome", "start": 38, "end": 53}}]}}, "schema": []}
{"input": "Our results further demonstrate a significant correlation of STAT3 mutation with pure red cell aplasia, neutropenia, hepatomegaly, β2-microglobulin and anemia.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 61, "end": 66}], "disease": [{"text": "hepatomegaly", "start": 117, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "This report extends the MANDP phenotype by illustrating that AR nonsense mutations in MMP13 can lead to short stature that persists beyond childhood.", "output": {"entities": {"gene": [{"text": "MMP13", "start": 86, "end": 91}], "disease": [{"text": "MANDP", "start": 24, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MMP13", "start": 86, "end": 91}, "tail": {"text": "MANDP", "start": 24, "end": 29}}]}}, "schema": []}
{"input": "Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.", "output": {"entities": {"gene": [{"text": "Factor IX", "start": 0, "end": 9}], "disease": [{"text": "haemophilia B", "start": 74, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Factor IX", "start": 0, "end": 9}, "tail": {"text": "haemophilia B", "start": 74, "end": 87}}]}}, "schema": []}
{"input": "For SLC4A1 in blacks, the G allele of rs2074107 (P =. 004; OR, 1. 56; 95% CI, 1. 15-2. 12) and the A allele of rs2857078 (P <. 001; OR, 1. 67; 95% CI, 1. 27-2. 17) were significantly associated with preeclampsia.", "output": {"entities": {"gene": [{"text": "SLC4A1", "start": 4, "end": 10}], "disease": [{"text": "preeclampsia", "start": 199, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 91, "end": 95}], "disease": [{"text": "cystic fibrosis", "start": 124, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 91, "end": 95}, "tail": {"text": "cystic fibrosis", "start": 124, "end": 139}}]}}, "schema": []}
{"input": "Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 17, "end": 23}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 43, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 17, "end": 23}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 43, "end": 73}}]}}, "schema": []}
{"input": "Growth hormone concentration in urine was measured by an immunometric assay, and growth hormone receptor-gene expression was measured by RNase protection assay or by quantitative reverse transcriptase polymerase chain reaction in total RNA isolated from epidermal suction blister roofs.", "output": {"entities": {"gene": [{"text": "growth hormone receptor", "start": 81, "end": 104}], "disease": [{"text": "blister", "start": 272, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "Because actinic keratosis showed a high DDR type of 53BP1 immunoreactivity, GIN seems to be induced at the precancerous stage.", "output": {"entities": {"gene": [{"text": "DDR", "start": 40, "end": 43}], "disease": [{"text": "actinic keratosis", "start": 8, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Using quantitative reverse-transcriptase polymerase chain reaction, the amount of messenger RNA for selected genes regulating contractile function (sarcoplasmic reticulum Ca2 + ATPase, alpha-and beta-myosin heavy chain [MHC] isoforms, phospholamban [PLB]), and pathologic hypertrophy (beta-MHC and atrial natriuretic peptide [ANP]) was determined from biopsy samples.", "output": {"entities": {"gene": [{"text": "phospholamban", "start": 235, "end": 248}], "disease": [{"text": "hypertrophy", "start": 272, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample.", "output": {"entities": {"gene": [{"text": "dopamine transporter", "start": 2, "end": 22}], "disease": [{"text": "cocaine abuse", "start": 63, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "dopamine transporter", "start": 2, "end": 22}, "tail": {"text": "cocaine abuse", "start": 63, "end": 76}}]}}, "schema": []}
{"input": "ATM is a high-molecular-weight PI3K-family kinase.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 31, "end": 35}], "disease": [{"text": "weight", "start": 24, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "The results of this study suggested that the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent.", "output": {"entities": {"gene": [{"text": "GUCA1A", "start": 45, "end": 51}], "disease": [{"text": "CORD", "start": 100, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GUCA1A", "start": 45, "end": 51}, "tail": {"text": "CORD", "start": 100, "end": 104}}]}}, "schema": []}
{"input": "The results suggest that the impacts of preventive interventions in early elementary school on late adolescent outcomes of impulsivity and aggression can be potentially modified by genetic factors, such as BDNF.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 206, "end": 210}], "disease": [{"text": "aggression", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Because the melanocortin-1 receptor can act as a female-specific counterpart to N-methyl-D-aspartate receptors in kappa-opioid analgesic mechanisms, the authors assessed the contribution of melanocortin-1 receptors to the sex-specific mechanisms underlying morphine hyperalgesia.", "output": {"entities": {"gene": [{"text": "melanocortin-1 receptor", "start": 12, "end": 35}], "disease": [{"text": "hyperalgesia", "start": 266, "end": 278}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "melanocortin-1 receptor", "start": 12, "end": 35}, "tail": {"text": "hyperalgesia", "start": 266, "end": 278}}]}}, "schema": []}
{"input": "Possible involvement of IMPase in complex behaviors related to affective disorders was assessed by monitoring the behavior of the IMPA2 (-/-) mice in the forced swim test, the tail suspension test (TST), the elevated zero-maze and open field test.", "output": {"entities": {"gene": [{"text": "IMPA2", "start": 130, "end": 135}], "disease": [{"text": "affective disorders", "start": 63, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IMPA2", "start": 130, "end": 135}, "tail": {"text": "affective disorders", "start": 63, "end": 82}}]}}, "schema": []}
{"input": "Mobilization of xanthine oxidase from the gastrointestinal tract in acute pancreatitis.", "output": {"entities": {"gene": [{"text": "xanthine oxidase", "start": 16, "end": 32}], "disease": [{"text": "acute pancreatitis", "start": 68, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Consequently, TNF-alpha, through activation of p38 MAPK and IKK, produces serine phosphorylation of IR and IRS-1, impairing its tyrosine phosphorylation by insulin and the corresponding activation of phosphatidylinositol 3-kinase and Akt, leading to insulin resistance on glucose uptake and GLUT4 translocation.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 14, "end": 23}], "disease": [{"text": "translocation", "start": 297, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found dysregulated expression of genes not previously associated with pancreatic adenocarcinoma, such as Rac 1, GLG1, NEDD5, RPL-13a, RPS9 and members of the Wnt5A gene family.", "output": {"entities": {"gene": [{"text": "RPS9", "start": 150, "end": 154}], "disease": [{"text": "pancreatic adenocarcinoma", "start": 86, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The remaining 9 findings implied possible associations between phosphatidylethanolamine N-methyltransferase (PEMT) gene and total cholesterol; USP46, RAP1GDS1, and ZCCHC16 genes and triglycerides; BCAT1 and SLC14A2 genes and albumin; and NR3C2, GRIK2, and PCSK2 genes and fibrinogen.", "output": {"entities": {"gene": [{"text": "PCSK2", "start": 256, "end": 261}], "disease": [{"text": "fibrinogen", "start": 272, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that SP is produced in tendinosis tendons, and furthermore that SP has marked effects on the tenocytes via the NK-1 R. It cannot be excluded that the SP effects are of importance concerning the processes of reorganization and healing that occur for tendon tissue in tendinosis.", "output": {"entities": {"gene": [{"text": "NK-1", "start": 132, "end": 136}], "disease": [{"text": "tendinosis", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "In addition, we found the altered expression of LIM and HSPF1 both in the brains and lymphoblastoid cells in bipolar disorder.", "output": {"entities": {"gene": [{"text": "HSPF1", "start": 56, "end": 61}], "disease": [{"text": "bipolar disorder", "start": 109, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPF1", "start": 56, "end": 61}, "tail": {"text": "bipolar disorder", "start": 109, "end": 125}}]}}, "schema": []}
{"input": "Furthermore, DGGE was used to investigate a patient with leprechaunism whose insulin receptor genes had not previously been studied.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 77, "end": 93}], "disease": [{"text": "leprechaunism", "start": 57, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 77, "end": 93}, "tail": {"text": "leprechaunism", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "We sequenced the coding region of the L1CAM gene of patients from two different families with X-linked hydrocephalus and found a novel mutation at nucleotide residue 1963 in one family.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 38, "end": 43}], "disease": [{"text": "X-linked hydrocephalus", "start": 94, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 38, "end": 43}, "tail": {"text": "X-linked hydrocephalus", "start": 94, "end": 116}}]}}, "schema": []}
{"input": "Genetic variations of the ApoB gene may affect plasma ApoB and lipid levels, thus influencing atherogenesis.", "output": {"entities": {"gene": [{"text": "ApoB gene", "start": 26, "end": 35}], "disease": [{"text": "atherogenesis", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4 years of age.", "output": {"entities": {"gene": [{"text": "GDE", "start": 13, "end": 16}], "disease": [{"text": "recurrent hypoglycemia", "start": 67, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Effects of baicalin in CD4 + CD29 + T cell subsets of ulcerative colitis patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 23, "end": 26}], "disease": [{"text": "ulcerative colitis", "start": 54, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Seventeen patients in Group A and 30 patients in Group B were evaluated before starting thrombolytic treatment and 2, 6 and 24 h after its end for the following parameters: aPTT, TcT, fibrinogen, fibrinogen degradation products (FDP), plasmin-alpha 2 antiplasmin (PAP) and thrombin-antithrombin III (TAT) complexes.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 282, "end": 298}], "disease": [{"text": "fibrinogen", "start": 184, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "This study included patients diagnosed with acute pyelonephritis (APN) and acute lobar nephronia (ALN) who had no underlying disease or structural anomalies other than vesicoureteral reflux (VUR).", "output": {"entities": {"gene": [{"text": "ALN", "start": 98, "end": 101}], "disease": [{"text": "vesicoureteral reflux", "start": 168, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "We compared the transcriptional regulation of the human Rex1 gene in NTera-2 (NT-2) human teratocarcinoma, normal human prostate epithelial cells (PrEC), and prostate cancer cells (PC-3) by promoter/luciferase analyses.", "output": {"entities": {"gene": [{"text": "Rex1", "start": 56, "end": 60}], "disease": [{"text": "prostate cancer", "start": 158, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.", "output": {"entities": {"gene": [{"text": "Myosin VIIA", "start": 0, "end": 11}], "disease": [{"text": "Usher syndrome type 1", "start": 38, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Myosin VIIA", "start": 0, "end": 11}, "tail": {"text": "Usher syndrome type 1", "start": 38, "end": 59}}]}}, "schema": []}
{"input": "Eight network 2 genes (KIAA0101, HDAC2, SUMO1, RBBP4, NONO, RBBP7, HTRA2, and MTA2) were significantly differentially expressed in an array of 18 different sarcoma types.", "output": {"entities": {"gene": [{"text": "NONO", "start": 54, "end": 58}], "disease": [{"text": "sarcoma", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The current study aimed to determine if generalized anxiety disorder (GAD), panic disorder, phobias, major depressive disorder (MDD), anorexia nervosa (AN), or bulimia nervosa (BN) shared common genetic or environmental factors with caffeine use, caffeine tolerance, or caffeine withdrawal.", "output": {"entities": {"gene": [{"text": "GAD", "start": 70, "end": 73}], "disease": [{"text": "caffeine", "start": 233, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Mutations of SCN1A generate phenotypes ranging from the extremely severe form of Dravet syndrome (DS) to a mild form of generalized epilepsy with febrile seizures plus (GEFS +).", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 13, "end": 18}], "disease": [{"text": "mild", "start": 107, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to determine whether administration of granulocyte colony-stimulating factor (G-CSF) has therapeutic efficacy in animals with ALF.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 63, "end": 100}], "disease": [{"text": "ALF", "start": 150, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 63, "end": 100}, "tail": {"text": "ALF", "start": 150, "end": 153}}]}}, "schema": []}
{"input": "Similar conditions were also seen among men above 45 years of age with risk habits like drinking and chewing as the earlier disease onset associated with GSTP1 polymorphism and high ITC intake (p < 0. 001).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 154, "end": 159}], "disease": [{"text": "drinking", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Several gene polymorphisms have been reported to be associated with sporadic CAA or CAA-related hemorrhage, including apolipoprotein E (APOE), presenilin 1 (PS1), and alpha1-antichymotrypsin (ACT).", "output": {"entities": {"gene": [{"text": "ACT", "start": 192, "end": 195}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the G82S genotypes in the RAGE gene were associated with serum AGE (P =. 033), homeostasis model assessment for insulin resistance (HOMA-IR) (P <. 001), plasma tumor necrosis factor alpha (TNF-alpha) (P =. 033), serum C-reactive protein (CRP) (P =. 002), and urinary excretion of 8-epi-prostaglandin F (2alpha) (P =. 028) after adjusting for sex, age, body mass index, cigarette smoking, and alcohol drinking.", "output": {"entities": {"gene": [{"text": "CRP", "start": 251, "end": 254}], "disease": [{"text": "insulin resistance", "start": 125, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "However, when corrected by body weight, EEI was higher in IGHD (p = 0. 005).", "output": {"entities": {"gene": [{"text": "IGHD", "start": 58, "end": 62}], "disease": [{"text": "body weight", "start": 27, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "These BRCA2 families have early-onset breast cancer (mean and median age = 49 years), with four of the eight families including ovarian cancer but with no families including male breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 6, "end": 11}], "disease": [{"text": "breast cancer", "start": 38, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 6, "end": 11}, "tail": {"text": "breast cancer", "start": 38, "end": 51}}]}}, "schema": []}
{"input": "The levels of LDL-C, ApoB and ApoA1/ApoB (ABCA-1); HDL-C, ApoA1, ApoB and ApoA1/ApoB (LIPC); TC, HDL-C, ApoA1 and ApoB (LIPG); TC, TG, HDL-C, LDL-C, ApoA1 and ApoB (MTHFR); TC, TG and ApoB (MYLIP); TG (PCSK9); TG, ApoA1 and ApoB (PPARD); and TC, HDL-C, LDL-C, ApoA1 and ApoB (SCARB1) in overweight/obese subjects were different among the genotypes (P < 0. 01-0. 001).", "output": {"entities": {"gene": [{"text": "MYLIP", "start": 190, "end": 195}], "disease": [{"text": "overweight", "start": 287, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Frequencies of p and x alleles in ER-α gene PvuII and XbaI polymorphisms were more prevalent among fertile men compared with infertile OAT men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 135, "end": 138}], "disease": [{"text": "infertile", "start": 125, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "APOA1 (-75)-APOC3 (SstI) haplotypes also showed significant association while APOA1 (+ 83)-APOC3 (SstI) haplotypes showed no association with gallstone disease.", "output": {"entities": {"gene": [{"text": "APOA1", "start": 0, "end": 5}], "disease": [{"text": "gallstone disease", "start": 142, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We observed that monocyte adhesion to resting or cytokine (tumor necrosis factor-alpha or interleukin-1 alpha)-stimulated human umbilical vein endothelial cells (HUVECs) was markedly inhibited (40 to 65%) by culture (1 to 6 days) of HUVECs with aFGF or bFGF.", "output": {"entities": {"gene": [{"text": "aFGF", "start": 245, "end": 249}], "disease": [{"text": "adhesion", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Administration of puerarin also effectively rectified the coagulation disorder in asthmatic rats, such as prothrombin time (PT) (P < 0. 01), thrombin time (TT) (P < 0. 05), fibrinogen (FIB) (P < 0. 01), the activity of factor II (FII) (P < 0. 01), the activity of factor V (FV) (P < 0. 05), the activity of factor VII (FVII) (P < 0. 05), the activity of factor X (FX) (P < 0. 05), the activity of factor VIII (FVIII) (P < 0. 01), the activity of factor IX (FIX) (P < 0. 05), and the activity of factor XII (FXII) (P < 0. 05).", "output": {"entities": {"gene": [{"text": "FVIII", "start": 410, "end": 415}], "disease": [{"text": "fibrinogen", "start": 173, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that FGFR2 and FGFR3, in addition to their potential role in skeletal dysplasias, play an important role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 36, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Most end-stage renal disease kidneys display accumulation of extracellular matrix (ECM) in the renal tubular compartment (tubular interstitial fibrosis-TIF) which is strongly correlated with the future loss of renal function.", "output": {"entities": {"gene": [{"text": "ECM", "start": 83, "end": 86}], "disease": [{"text": "end-stage renal disease", "start": 5, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Six genes were identified as of interest for a follow-up, based on the strength of the association and based on the interest as potential candidate target for developing new treatment for depression: Solute Carrier Family 4 Member 10 (SLC4A10), Dipeptidyl Peptidase IV (DPP4), Dopamine Receptor D3 (DRD3), Zinc Finger Protein 80 (ZNF80), Nitric Oxide Synthase 2A (NOS2A) and Peroxisome Proliferator-Activated Receptor-Gamma, Coactivator 1, Alpha (PPARGC1A).", "output": {"entities": {"gene": [{"text": "NOS2A", "start": 364, "end": 369}], "disease": [{"text": "depression", "start": 188, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2A", "start": 364, "end": 369}, "tail": {"text": "depression", "start": 188, "end": 198}}]}}, "schema": []}
{"input": "Newly described small molecules that inhibit BET proteins BRD2, BRD3, and BRD4 reduce proliferation of NUT (nuclear protein in testis)-midline carcinoma, multiple myeloma, and leukemia cells in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "BRD2", "start": 58, "end": 62}], "disease": [{"text": "multiple myeloma", "start": 154, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "TAAR 6 and HSP-70 variations associated with bipolar disorder.", "output": {"entities": {"gene": [{"text": "TAAR 6", "start": 0, "end": 6}], "disease": [{"text": "bipolar disorder", "start": 45, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TAAR 6", "start": 0, "end": 6}, "tail": {"text": "bipolar disorder", "start": 45, "end": 61}}]}}, "schema": []}
{"input": "Here we investigated the molecular mechanism of USP44 silencing and whether this correlated with aneuploidy in colorectal adenomas.", "output": {"entities": {"gene": [{"text": "USP44", "start": 48, "end": 53}], "disease": [{"text": "aneuploidy", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "pathological grades 2/3) showed significantly lower VEGF, HIF-1 and EGFR gene expression levels than the non-responders (patients with insignificant tumour regression, i. e.", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 58, "end": 63}], "disease": [{"text": "regression", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Basal fasting glucose, c-reactive protein (CRP), insulin, insulin resistance (homeostasis model assessment (HOMA)), total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides concentration, and adipokines were measured.", "output": {"entities": {"gene": [{"text": "CRP", "start": 43, "end": 46}], "disease": [{"text": "insulin resistance", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Abnormalities in CRH secretion have been documented in both the depression and manic phases of bipolar disorder (BPD).", "output": {"entities": {"gene": [{"text": "CRH", "start": 17, "end": 20}], "disease": [{"text": "bipolar disorder", "start": 95, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH", "start": 17, "end": 20}, "tail": {"text": "bipolar disorder", "start": 95, "end": 111}}]}}, "schema": []}
{"input": "Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 29, "end": 38}], "disease": [{"text": "hemophilia B", "start": 53, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 29, "end": 38}, "tail": {"text": "hemophilia B", "start": 53, "end": 65}}]}}, "schema": []}
{"input": "Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype when combined with mutations in the gene encoding the imino acid transporter SLC6A20 (IMINO).", "output": {"entities": {"gene": [{"text": "SLC36A2", "start": 13, "end": 20}], "disease": [{"text": "IG", "start": 79, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC36A2", "start": 13, "end": 20}, "tail": {"text": "IG", "start": 79, "end": 81}}]}}, "schema": []}
{"input": "We used the genotyping data of 1, 115 common single nucleotide polymorphisms (SNPs) in the 12 pathway core genes (i. e., MST1, MST2, SAV1, LATS1, LATS2, MOB1A, MOB1B, YAP1, TEAD1, TEAD2, TEAD3 and TEAD4) from the dataset of our previously published CM genome-wide association study and comprehensively analyzed their associations with CM-specific survival (CSS) in 858 CM patients by using the Kaplan-Meier analyses and Cox proportional hazards regression models.", "output": {"entities": {"gene": [{"text": "LATS2", "start": 146, "end": 151}], "disease": [{"text": "regression", "start": 445, "end": 455}]}, "relations": {}}, "schema": []}
{"input": "These mRNAs, as well as serum SHBG, were higher when the hepatic triglyceride concentration was low, and decreased with increasing body mass index but were unrelated to age.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 30, "end": 34}], "disease": [{"text": "body mass index", "start": 131, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.", "output": {"entities": {"gene": [{"text": "RASA2", "start": 25, "end": 30}], "disease": [{"text": "NS", "start": 147, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RASA2", "start": 25, "end": 30}, "tail": {"text": "NS", "start": 147, "end": 149}}]}}, "schema": []}
{"input": "This represents strong evidence for the causative nature of the observed mutation for LCAT deficiency in affected individuals and supports the conclusion that Arg140 is crucial for the structure of an enzymatically active LCAT protein.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 86, "end": 90}], "disease": [{"text": "LCAT deficiency", "start": 86, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 86, "end": 90}, "tail": {"text": "LCAT deficiency", "start": 86, "end": 101}}]}}, "schema": []}
{"input": "miR-21 may have an influence on cell cycle, DNA damage repair, apoptosis, autophagy, and hypoxia of cancer during irradiation.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 89, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "This study was performed to investigate the alterations of platelet functions and whether iron deficiency results in diminished expression of activation marker (P-selectin; CD62P) leading to platelet aggregation dysfunction in children with IDA.", "output": {"entities": {"gene": [{"text": "CD62P", "start": 173, "end": 178}], "disease": [{"text": "iron deficiency", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Bone marrow cells from 121 consecutive patients with multiple myeloma were analyzed cytogenetically by standard banding techniques including RHG, GTG and CBG banding.", "output": {"entities": {"gene": [{"text": "CBG", "start": 154, "end": 157}], "disease": [{"text": "multiple myeloma", "start": 53, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Human ITFgamma-treated fibroblasts as well as non-neoplastic cervical tissues responded to C. trachomatis with a strong down-regulation of caveolin-1 mRNA and a light up-regulation of C-myc mRNA.", "output": {"entities": {"gene": [{"text": "C-myc", "start": 184, "end": 189}], "disease": [{"text": "non-neoplastic", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Consistent with these data, PKCalpha along with the PKC binding protein RACK1 are immunoprecipitated with wild-type P0, and inhibition of PKC activity abolishes P0-mediated adhesion.", "output": {"entities": {"gene": [{"text": "RACK1", "start": 72, "end": 77}], "disease": [{"text": "adhesion", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We identified mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome.", "output": {"entities": {"gene": [{"text": "PIGT", "start": 27, "end": 31}], "disease": [{"text": "intellectual disability", "start": 76, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Nisin, an apoptogenic bacteriocin and food preservative, attenuates HNSCC tumorigenesis via CHAC1.", "output": {"entities": {"gene": [{"text": "CHAC1", "start": 92, "end": 97}], "disease": [{"text": "tumorigenesis", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "The colon cancer with the CASP10 missense mutation harboured additional CASP gene mutations (CASP3, 7 and 8).", "output": {"entities": {"gene": [{"text": "CASP", "start": 26, "end": 30}], "disease": [{"text": "colon cancer", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Our study initially confirmed DYX1C1, a dyslexia related protein, could interact with Hsp70 and Hsp90 via GST pull-down and a yeast two-hybrid system.", "output": {"entities": {"gene": [{"text": "GST", "start": 106, "end": 109}], "disease": [{"text": "dyslexia", "start": 40, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We believe that patients with HGF should be monitored carefully for a prolonged period for growth as well as other endocrine abnormalities.", "output": {"entities": {"gene": [{"text": "HGF", "start": 30, "end": 33}], "disease": [{"text": "abnormalities", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other abnormalities.", "output": {"entities": {"gene": [{"text": "KRAS gene", "start": 65, "end": 74}], "disease": [{"text": "heart defects", "start": 251, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "In both schizophrenia and bipolar disorder, NTNG2 mRNA was reduced in CA3, with reductions also found in CA4 and perirhinal cortex in bipolar disorder.", "output": {"entities": {"gene": [{"text": "CA3", "start": 70, "end": 73}], "disease": [{"text": "schizophrenia", "start": 8, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "We investigated a series of 21 sporadic paraffin-embedded hepatoblastoma cases for mutations in the p53 (exons 5-8) and beta-catenin (exon 3) genes, loss of heterozygosity at APC, microsatellite instability and immunohistochemical expression of beta-catenin and of the two main mismatch repair proteins, MLH1 and MSH2.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 313, "end": 317}], "disease": [{"text": "sporadic", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "By multiple regression analysis, family history, smoking, diabetes, and hypertension were independent risk factors of premature CAD, but not IL-6 genotype.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 141, "end": 145}], "disease": [{"text": "smoking", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.", "output": {"entities": {"gene": [{"text": "GABRA5", "start": 148, "end": 154}], "disease": [{"text": "IDIC-15", "start": 92, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRA5", "start": 148, "end": 154}, "tail": {"text": "IDIC-15", "start": 92, "end": 99}}]}}, "schema": []}
{"input": "To our knowledge, this is the first report of a EWSR1-ERG fusion in an ES tumor with an apparently duplicated 5' portion of EWSR1, and with a complex translocation involving chromosomes 1, 7, and 21.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 48, "end": 53}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The melastatin-like transient receptor potential M2 (TRPM2) channel is a Ca2 + permeable channel that is activated by reactive oxygen species (ROS), and its activation induces necrotic cell death.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 73, "end": 76}], "disease": [{"text": "necrotic cell death", "start": 176, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we identified that miR-203 may suppress the tumorigenesis at least in part through negatively regulating its target gene ABL1.", "output": {"entities": {"gene": [{"text": "miR-203", "start": 29, "end": 36}], "disease": [{"text": "tumorigenesis", "start": 54, "end": 67}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-203", "start": 29, "end": 36}, "tail": {"text": "tumorigenesis", "start": 54, "end": 67}}]}}, "schema": []}
{"input": "To study such patterns in Barrett' s metaplasia and squamous cell carcinoma of the oesophagus (SCC), the distribution of MUC1, MUC2, MUC5AC and the three TFF peptides (TFF1, TFF2 and TFF3) was investigated.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 174, "end": 178}], "disease": [{"text": "squamous cell carcinoma", "start": 52, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "A SNP in FGG rs2066865 (OR 2. 19, p = 0. 003) demonstrated association with arterial thrombosis risk in Hispanics.", "output": {"entities": {"gene": [{"text": "FGG", "start": 9, "end": 12}], "disease": [{"text": "arterial thrombosis", "start": 76, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These results provide evidence that selective inhibition of HDAC1 and HDAC2 in brain may provide an epigenetic-based target for developing improved treatments for mood disorders and other brain disorders with altered chromatin-mediated neuroplasticity.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 60, "end": 65}], "disease": [{"text": "mood disorders", "start": 163, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC1", "start": 60, "end": 65}, "tail": {"text": "mood disorders", "start": 163, "end": 177}}]}}, "schema": []}
{"input": "A subtle t (3; 8) results in plausible juxtaposition of MYC and BCL6 in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia.", "output": {"entities": {"gene": [{"text": "BCL6", "start": 64, "end": 68}], "disease": [{"text": "telangiectasia", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.", "output": {"entities": {"gene": [{"text": "stratifin", "start": 417, "end": 426}], "disease": [{"text": "keloid", "start": 84, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "stratifin", "start": 417, "end": 426}, "tail": {"text": "keloid", "start": 84, "end": 90}}]}}, "schema": []}
{"input": "There was a significant interaction between NAT2 genotype and pack-years of smoking among cases, so that the rapid genotype was associated with high MF among ever-smoking cases diagnosed at higher pack-years, whereas the slow genotype was associated with high MF at lower pack-years.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 44, "end": 48}], "disease": [{"text": "smoking", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Subtype-specific addiction of the activated B-cell subset of diffuse large B-cell lymphoma to FOXP1.", "output": {"entities": {"gene": [{"text": "FOXP1", "start": 94, "end": 99}], "disease": [{"text": "addiction", "start": 17, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The mRNA levels of PPFIBP2 and ESR2 are differentially expressed in prostate tumours and paired normal tissues.", "output": {"entities": {"gene": [{"text": "PPFIBP2", "start": 19, "end": 26}], "disease": [{"text": "prostate tumours", "start": 68, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPFIBP2", "start": 19, "end": 26}, "tail": {"text": "prostate tumours", "start": 68, "end": 84}}]}}, "schema": []}
{"input": "At difference from previous papers reporting GHRHR mutations in familial cases with a clear recessive mode of inheritance, our study was conducted on a large sample of sporadic patients and allowed to discover a novel mechanism of the disease caused by a recurrent dominant mutation in the GHRHR signal peptide associated with incomplete penetrance.", "output": {"entities": {"gene": [{"text": "GHRHR", "start": 45, "end": 50}], "disease": [{"text": "sporadic", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "PURPOSE: To evaluate the changes of oxidative DNA damage (in the form of 8-OHdG) and three key DNA base-excision repair (BER) proteins, human 8-oxoguanine DNA glycosylase 1 (hOGG1), apurinic/apyrimidinic endonuclease 1 (APE1) and DNA polymerase β (Pol β), in lens epithelium cells (LECs), cortex and nucleus of lenses with age-related cataract (ARC) and age-matched controls.", "output": {"entities": {"gene": [{"text": "DNA polymerase β", "start": 230, "end": 246}], "disease": [{"text": "age-related cataract", "start": 323, "end": 343}]}, "relations": {}}, "schema": []}
{"input": "To determine whether genomic profiles similarly discriminate among BRCA1, BRCA2, and sporadic tumors, we established DNA copy number profiles using comparative genomic hybridization to BAC-clone microarrays providing < 1 Mb resolution.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 74, "end": 79}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "To investigate DNMT1, DNMT3a and DNMT3b enzymes in oral squamous cell carcinoma (SCC) and leukoplakia, and their relationship with histopathologic/clinical parameters.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 15, "end": 20}], "disease": [{"text": "leukoplakia", "start": 90, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Key upstream regulators activated by metronomic cyclophosphamide include members of the interferon, toll-like receptor, inflammatory response, and PPAR signaling pathways, whose activation may contribute to anti-tumor immunity.", "output": {"entities": {"gene": [{"text": "PPAR", "start": 147, "end": 151}], "disease": [{"text": "tumor immunity", "start": 212, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to evaluate the prognostic effect of peripheral blood lymphocyte subgroup CD4 + and CD8 + cells on renal transplant patients with cytomegalovirus (CMV) viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 86, "end": 89}], "disease": [{"text": "viremia", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the GNPTAB gene in 25 ML II and 15 ML III Japanese patients.", "output": {"entities": {"gene": [{"text": "GNPTAB", "start": 16, "end": 22}], "disease": [{"text": "ML III", "start": 47, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTAB", "start": 16, "end": 22}, "tail": {"text": "ML III", "start": 47, "end": 53}}]}}, "schema": []}
{"input": "body mass index (BMI); fat mass (FAT); percentage body fat (% FAT); fat-free mass (FATFR); sum of eight skinfolds (SF8); subcutaneous (ASF), visceral (AVF) and total (ATF) abdominal fat areas assessed by CT scan; plasma FFA concentrations measured at rest (FFAR), at a power output of 50 W (FFA50) and at a relative power output of 60% of VO (2max) (FFA60%); and fasting insulin (INS).", "output": {"entities": {"gene": [{"text": "INS", "start": 380, "end": 383}], "disease": [{"text": "body mass index", "start": 0, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "The overall expression of PDX-1, SHH, Ptc and Gli-1 was low, but showed a distinctive and topographic linkage inside pancreatic carcinomas as well as inside PanINs.", "output": {"entities": {"gene": [{"text": "PDX-1", "start": 26, "end": 31}], "disease": [{"text": "carcinomas", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Results showed RhoE was significantly down-regulated in three gastric cancer cell lines.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 15, "end": 19}], "disease": [{"text": "gastric cancer", "start": 62, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrated that SAC dose-dependently inhibited the growth of oral cancer in tumour-bearing mice.", "output": {"entities": {"gene": [{"text": "SAC", "start": 30, "end": 33}], "disease": [{"text": "oral cancer", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "These findings implicate MORs in ischemia-induced death of CA1 pyramidal neurons and document epigenetic remodeling of expression of OPRM1 in CA1 inhibitory interneurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 59, "end": 62}], "disease": [{"text": "ischemia", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of the RET, GDNF, EDNRB, and EDN3 genes.", "output": {"entities": {"gene": [{"text": "EDN3", "start": 177, "end": 181}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Deficient beta-arrestin-2-CRF (1) receptor interactions could contribute to the pathophysiology of affective disorders by inducing excessive CRF (1) receptor signaling.", "output": {"entities": {"gene": [{"text": "beta-arrestin-2", "start": 10, "end": 25}], "disease": [{"text": "affective disorders", "start": 99, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-arrestin-2", "start": 10, "end": 25}, "tail": {"text": "affective disorders", "start": 99, "end": 118}}]}}, "schema": []}
{"input": "In primary prostate cancer and bone metastasis, PAR-1 is upregulated in reactive stroma and PAR-2 is uniformly overexpressed in carcinoma cells, suggesting these receptors may play potentially different roles in prostate cancer development and metastasis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 48, "end": 51}], "disease": [{"text": "bone metastasis", "start": 31, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We examined whether polymorphisms in ORMDL3 and the adjacent gasdermin-like (GSDML) gene associated with asthma in the genome-wide association study are related to childhood asthma and atopy in a Mexico City population.", "output": {"entities": {"gene": [{"text": "GSDML", "start": 77, "end": 82}], "disease": [{"text": "atopy", "start": 185, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Congenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration.", "output": {"entities": {"gene": [{"text": "MIM", "start": 113, "end": 116}], "disease": [{"text": "dehydration", "start": 193, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these results demonstrate, for the first time, a novel role for Nrf2 in regulating hyperoxia-induced Nox4 transcription via AREs in lung endothelium.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 78, "end": 82}], "disease": [{"text": "hyperoxia", "start": 97, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the MMAC/PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene are documented in cancers of the breast, prostate, ovary, colon, melanoma, glioblastoma, lymphoma and endometrium.", "output": {"entities": {"gene": [{"text": "tensin", "start": 44, "end": 50}], "disease": [{"text": "cancers", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The exact mechanism of neoplastic transformation from CD30 (lo) expressing phenotype to CD30 (hi) expressing neoplastic phenotype is unknown.", "output": {"entities": {"gene": [{"text": "CD30", "start": 54, "end": 58}], "disease": [{"text": "neoplastic transformation", "start": 23, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "High expression of WNT7A and FGF1 are correlated in ovarian carcinomas and poor overall patient survival.", "output": {"entities": {"gene": [{"text": "FGF1", "start": 29, "end": 33}], "disease": [{"text": "ovarian carcinomas", "start": 52, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF1", "start": 29, "end": 33}, "tail": {"text": "ovarian carcinomas", "start": 52, "end": 70}}]}}, "schema": []}
{"input": "Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines.", "output": {"entities": {"gene": [{"text": "neurofibromatosis 1 gene", "start": 17, "end": 41}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Patients with acute viral infections such as infectious mononucleosis caused by Epstein-Barr virus infections or chickenpox, resulting from varicella zoster virus infection, had circulating populations of activated CD45RO + T cells which also showed low bcl-2 expression.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 254, "end": 259}], "disease": [{"text": "varicella zoster virus infection", "start": 140, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "While 71. 4% of advanced breast cancers were positive for SNCG expression, only 26. 8% of Stage I/II breast cancers were positive for SNCG expression and 5. 2% of benign hyperplasia expressed SNCG.", "output": {"entities": {"gene": [{"text": "SNCG", "start": 58, "end": 62}], "disease": [{"text": "hyperplasia", "start": 170, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "PAD4 translocation into the nucleus was attributable to elevated tumor necrosis factor-alpha (TNF-alpha) protein.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 94, "end": 103}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "AIM: The objective of this study was to investigate the association between VEGF + 936 C/T gene polymorphism and glioma risk in a Chinese Han population.", "output": {"entities": {"gene": [{"text": "T gene", "start": 89, "end": 95}], "disease": [{"text": "glioma", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The results showed that EA (2 Hz) can significantly reduce mechanical and thermal hypersensitivity following lumbar L5 SNL in rats.", "output": {"entities": {"gene": [{"text": "SNL", "start": 119, "end": 122}], "disease": [{"text": "hypersensitivity", "start": 82, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The established assay has proved able to detect the underlying UROD mutation in 10 previously characterized DNA samples as well as a new mutation in each of six previously unexamined PCT patients.", "output": {"entities": {"gene": [{"text": "UROD", "start": 63, "end": 67}], "disease": [{"text": "PCT", "start": 183, "end": 186}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UROD", "start": 63, "end": 67}, "tail": {"text": "PCT", "start": 183, "end": 186}}]}}, "schema": []}
{"input": "Both patients had resistant hyperchylomicronemia, low LPL activity, and history of acute pancreatitis.", "output": {"entities": {"gene": [{"text": "LPL", "start": 54, "end": 57}], "disease": [{"text": "acute pancreatitis", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The TPI of the carcinomatous regions ranged from 0. 20 to 0. 63 (mean, 0. 44) and from 0. 55 to 0. 85 for the sarcoma-like areas (mean, 0. 68) P <. 0001.", "output": {"entities": {"gene": [{"text": "TPI", "start": 4, "end": 7}], "disease": [{"text": "sarcoma", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In the second mixed germ cell tumour, the NSTGCT component was methylated for RASSF1A and MGMT, while the seminoma component was methylated only for RASSF1A.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 90, "end": 94}], "disease": [{"text": "mixed germ cell tumour", "start": 14, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The recurrent t (12; 22) (q13; q12) chromosomal translocation associated with soft tissue clear cell sarcoma results in a chimeric protein EWS-ATF-1 that acts as a constitutive transcriptional activator.", "output": {"entities": {"gene": [{"text": "EWS", "start": 139, "end": 142}], "disease": [{"text": "chromosomal translocation", "start": 36, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) His mother, heterozygous for the mutation, developed progressive personality change and a gait disorder in her mid-20s.", "output": {"entities": {"gene": [{"text": "PLP", "start": 136, "end": 139}], "disease": [{"text": "gait disorder", "start": 231, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Linkage analysis in the family identified a region in 2p15-p16 which cosegregated with dyslexia.", "output": {"entities": {"gene": [{"text": "p16", "start": 59, "end": 62}], "disease": [{"text": "dyslexia", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Peripheral blood DNA methylation detected in the BRCA1 or BRCA2 promoter for sporadic ovarian cancer patients and controls.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 58, "end": 63}], "disease": [{"text": "sporadic", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of endogenous NTN-1 increased expression of pro-inflammatory mediators and MPO, and aggravated neuroinflammation and brain edema.", "output": {"entities": {"gene": [{"text": "NTN-1", "start": 24, "end": 29}], "disease": [{"text": "brain edema", "start": 127, "end": 138}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NTN-1", "start": 24, "end": 29}, "tail": {"text": "brain edema", "start": 127, "end": 138}}]}}, "schema": []}
{"input": "Our data expand the genetic basis of CSNB and highlight the indispensible function of SLC24A1 in retinal function and/or maintenance in humans.", "output": {"entities": {"gene": [{"text": "SLC24A1", "start": 86, "end": 93}], "disease": [{"text": "CSNB", "start": 37, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC24A1", "start": 86, "end": 93}, "tail": {"text": "CSNB", "start": 37, "end": 41}}]}}, "schema": []}
{"input": "In a conditional logistic regression analysis including age, gestational age, serum creatinine, MMA, cystathionine, body mass index (BMI), cigarette smoking, alcohol ingestion and use of multivitamins the risk of abortion was significantly associated with MMA (OR [95% CI] = 3. 80 [1. 36, 10. 62] per quartile increase in MMA), BMI (OR [95% CI] = 5. 49 [1. 29, 23. 39] per quartile) and gestational age (OR [95% CI] = 0. 10 [0. 01, 0. 77] per increase of interval in gestational age).", "output": {"entities": {"gene": [{"text": "MMA", "start": 96, "end": 99}], "disease": [{"text": "body mass index", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the interaction between NAT2 intermediate or slow genotype and pack-years of smoking has a strong impact on urothelial cancer.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 37, "end": 41}], "disease": [{"text": "smoking", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "This conclusion arose from the unexpected observation that the deletion of Sun1, instead of accelerating aging, actually ameliorated the progeric and dystrophic phenotypes in Lmna-deficient mice.", "output": {"entities": {"gene": [{"text": "Lmna", "start": 175, "end": 179}], "disease": [{"text": "aging", "start": 105, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibroblasts (Tgfbr2 (fspKO)) induces inflammation and significant DNA damage in the neighboring epithelia of the forestomach.", "output": {"entities": {"gene": [{"text": "Tgfbr2", "start": 67, "end": 73}], "disease": [{"text": "inflammation", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate associations of MTHFR C677T and A1298C, MTR A2756G, MTRR A66G, RFC1 A80G, MTHFD1 G1958A, CBS 844ins68, TC2 C776G and A67G, SHMT C1420T and BHMT G742A polymorphisms with HNSCC risk.", "output": {"entities": {"gene": [{"text": "BHMT", "start": 234, "end": 238}], "disease": [{"text": "cancer", "start": 63, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that murine mannose receptor (MR) bearing macrophages derived from peritoneal exudate cells (PEC) and cultured ex vivo with M-FP can, after adoptive transfer, efficiently present MUC1 to T cells, leading to the generation of high frequency of CTL and protection from tumor challenge.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 193, "end": 197}], "disease": [{"text": "peritoneal exudate", "start": 81, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "BCAR4 is expressed in 27% of primary breast tumors.", "output": {"entities": {"gene": [{"text": "BCAR4", "start": 0, "end": 5}], "disease": [{"text": "breast tumors", "start": 37, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BCAR4", "start": 0, "end": 5}, "tail": {"text": "breast tumors", "start": 37, "end": 50}}]}}, "schema": []}
{"input": "In the untreated amnesia control group, the scopolamine amnesia was manifested by the absence of any increase in the PAR latent time.", "output": {"entities": {"gene": [{"text": "PAR", "start": 117, "end": 120}], "disease": [{"text": "amnesia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Group 2 consisted of 37 patients (27 female, 10 male) who received pegylated interferon alpha 2b 1. 5 microg/kg s. c. weekly plus ribavirin adjusted for patient' s weight.", "output": {"entities": {"gene": [{"text": "interferon alpha 2b", "start": 77, "end": 96}], "disease": [{"text": "weight", "start": 164, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "High plasma CXCL10 levels are associated with HCV-genotype 1, and higher insulin resistance, fibrosis, and HIV viral load in HIV/HCV coinfected patients.", "output": {"entities": {"gene": [{"text": "CXCL10", "start": 12, "end": 18}], "disease": [{"text": "insulin resistance", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "This suggests that the negative behavioral effects of shock are most likely related to corresponding changes in BDNF spinal levels.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 112, "end": 116}], "disease": [{"text": "shock", "start": 54, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D.", "output": {"entities": {"gene": [{"text": "epsilon-sarcoglycan", "start": 27, "end": 46}], "disease": [{"text": "M-D", "start": 79, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "epsilon-sarcoglycan", "start": 27, "end": 46}, "tail": {"text": "M-D", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Diagnosis of pancreatic insufficiency was established for a fecal E1 & lt; 200 microg/g.", "output": {"entities": {"gene": [{"text": "E1", "start": 66, "end": 68}], "disease": [{"text": "pancreatic insufficiency", "start": 13, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "E1", "start": 66, "end": 68}, "tail": {"text": "pancreatic insufficiency", "start": 13, "end": 37}}]}}, "schema": []}
{"input": "H syndrome: novel and recurrent mutations in SLC29A3.", "output": {"entities": {"gene": [{"text": "SLC29A3", "start": 45, "end": 52}], "disease": [{"text": "H syndrome", "start": 0, "end": 10}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC29A3", "start": 45, "end": 52}, "tail": {"text": "H syndrome", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "Western blot analysis indicate that neu-initiated mammary carcinomas express abundant NRL protein when compared to other mammary tumors.", "output": {"entities": {"gene": [{"text": "NRL", "start": 86, "end": 89}], "disease": [{"text": "carcinomas", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "To search for potential phenotypic modifiers regulating secretion of GDF5, we compared cells overexpressing wild type (Wt) GDF5 and GDF5 with a novel mutation in the prodomain identified in a large Pakistani family with Brachydactyly type C and mild Grebe type chondrodyslplasia (c527T > C; p. Leu176Pro).", "output": {"entities": {"gene": [{"text": "GDF5", "start": 69, "end": 73}], "disease": [{"text": "mild", "start": 245, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "In postmenopausal women the FTO (rs178 17449) genotype was significantly associated with systolic blood pressure (SBP) (p = 0. 024) in the dominant GG/GT vs. TT model and with diastolic blood pressure (DBP) (p = 0. 030) in the recessive GG vs. GT/TT and the additive model (p = 0. 043), respectively.", "output": {"entities": {"gene": [{"text": "DBP", "start": 202, "end": 205}], "disease": [{"text": "systolic blood pressure", "start": 89, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.", "output": {"entities": {"gene": [{"text": "ATP8B1", "start": 6, "end": 12}], "disease": [{"text": "progressive familial intrahepatic cholestasis", "start": 44, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP8B1", "start": 6, "end": 12}, "tail": {"text": "progressive familial intrahepatic cholestasis", "start": 44, "end": 89}}]}}, "schema": []}
{"input": "Polymorphisms were sought in the human beta-defensin genes DEFB1, DEFB4, DEFB103A, and DEFB104 in healthy individuals and cystic fibrosis (CF) patients living in various European countries.", "output": {"entities": {"gene": [{"text": "DEFB103A", "start": 73, "end": 81}], "disease": [{"text": "cystic fibrosis", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 98, "end": 103}], "disease": [{"text": "hypochondroplasia", "start": 108, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 98, "end": 103}, "tail": {"text": "hypochondroplasia", "start": 108, "end": 125}}]}}, "schema": []}
{"input": "We investigated 11 patients with the dyad of' paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively).", "output": {"entities": {"gene": [{"text": "SDHC", "start": 229, "end": 233}], "disease": [{"text": "paraganglioma and gastric stromal sarcoma", "start": 46, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHC", "start": 229, "end": 233}, "tail": {"text": "paraganglioma and gastric stromal sarcoma", "start": 46, "end": 87}}]}}, "schema": []}
{"input": "Features typical of CBS included early age of presentation (< 1 year) in 3 (25%), polyuria/dehydration in 4 (33%), growth retardation in 3 (25%), hypercalciuria (urinary calcium/creatinine mmol/mmoverline > 0. 55) in 4 (33%) and nephrolithiasis in 1 (8%).", "output": {"entities": {"gene": [{"text": "CBS", "start": 20, "end": 23}], "disease": [{"text": "dehydration", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Morphometric data supported the correlation between follicular hyperplasia and increased proportions of CD19 +, CD10 +, and transferrin receptor-positive cells.", "output": {"entities": {"gene": [{"text": "CD10", "start": 112, "end": 116}], "disease": [{"text": "follicular hyperplasia", "start": 52, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "]), and metatropic dysplasia (MIM: 156530) (also called metatropic dwarfism or parastremmatic dwarfism [MIM: 168400]).", "output": {"entities": {"gene": [{"text": "MIM", "start": 30, "end": 33}], "disease": [{"text": "metatropic dwarfism", "start": 56, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "It is also the first report of Peters anomaly being caused by a FOXC1 mutation.", "output": {"entities": {"gene": [{"text": "FOXC1", "start": 64, "end": 69}], "disease": [{"text": "Peters anomaly", "start": 31, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXC1", "start": 64, "end": 69}, "tail": {"text": "Peters anomaly", "start": 31, "end": 45}}]}}, "schema": []}
{"input": "Our findings are consistent with imprinting of WT1-AS in normal kidney and the relaxation of imprinting in Wilms' tumorigenesis.", "output": {"entities": {"gene": [{"text": "WT1-AS", "start": 47, "end": 53}], "disease": [{"text": "tumorigenesis", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "To explore the feasibility of HIV vertical transmission by human sperm, plasmid construction and transfection, interspecific in vitro fertilization of zona-free hamster ova by human sperm, fluorescence in situ hybridization (FISH), RT-PCR, and immunofluorescence assay (IFA) were carried out.", "output": {"entities": {"gene": [{"text": "FISH", "start": 225, "end": 229}], "disease": [{"text": "zona", "start": 151, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Investigation of manic and euthymic episodes identifies state-and trait-specific gene expression and STAB1 as a new candidate gene for bipolar disorder.", "output": {"entities": {"gene": [{"text": "STAB1", "start": 101, "end": 106}], "disease": [{"text": "manic", "start": 17, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAB1", "start": 101, "end": 106}, "tail": {"text": "manic", "start": 17, "end": 22}}]}}, "schema": []}
{"input": "Mutations to the α-TTP gene are associated with ataxia with vitamin E deficiency, a disease characterized by peripheral nerve degeneration.", "output": {"entities": {"gene": [{"text": "α-TTP", "start": 17, "end": 22}], "disease": [{"text": "nerve degeneration", "start": 120, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Cyclin D1 expression was higher than cyclin A, which suggests a slow progression through the G1 phase.", "output": {"entities": {"gene": [{"text": "Cyclin D1", "start": 0, "end": 9}], "disease": [{"text": "slow progression", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Two of these loci map to genes (TCF7L2 and TGFB1) with established roles in colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "TCF7L2", "start": 32, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c. 845_846delCT mutation in the assembly factor SURF1 gene.", "output": {"entities": {"gene": [{"text": "COX8A", "start": 26, "end": 31}], "disease": [{"text": "complex IV deficiency", "start": 147, "end": 168}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COX8A", "start": 26, "end": 31}, "tail": {"text": "complex IV deficiency", "start": 147, "end": 168}}]}}, "schema": []}
{"input": "We noted increased IL-6 levels in human and murine epidermolysis bullosa acquisita (EBA), a prototypic organ-specific autoimmune bullous dermatoses (AIBD) induced by autoantibodies to type VII collagen (COL7).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 19, "end": 23}], "disease": [{"text": "bullous dermatoses", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "HLA-DQB1 * polymorphism and associations with dilated cardiomyopathy, inflammatory dilated cardiomyopathy and myocarditis.", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 0, "end": 8}], "disease": [{"text": "cardiomyopathy", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "ADAR1 expression levels and the RNA editing levels in the 3'-UTR of DHFR in breast cancer tissues were higher than those in adjacent normal tissues.", "output": {"entities": {"gene": [{"text": "ADAR1", "start": 0, "end": 5}], "disease": [{"text": "breast cancer", "start": 76, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAR1", "start": 0, "end": 5}, "tail": {"text": "breast cancer", "start": 76, "end": 89}}]}}, "schema": []}
{"input": "A total of 224 overweight-obese subjects with CAD or metabolic disorder, subdivided into the following four categories: (1) wild type (TT-CC, n = 73); (2) only UCP3 promoter variant (TT-CT/TT, n = 90); (3) only beta3-AR variant (TA/AA-CC, n = 29); (4) both variants (TA/AA-CT/TT, n = 32).", "output": {"entities": {"gene": [{"text": "UCP3", "start": 160, "end": 164}], "disease": [{"text": "overweight", "start": 15, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "This study provides evidence that Cyr61 is sufficient to induce E2-independence and antiestrogen-resistance, and to promote invasiveness in vitro, and to induce tumorigenesis in vivo, all of which are characteristics of an aggressive breast cancer phenotype.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 34, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 28, "end": 33}], "disease": [{"text": "BPES", "start": 76, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXL2", "start": 28, "end": 33}, "tail": {"text": "BPES", "start": 76, "end": 80}}]}}, "schema": []}
{"input": "In the present study, 5/6 cases in which FISH was successful had an IGH/BCL2 fusion as would result from the t (14; 18) (q32; q21) translocation commonly seen in FL of extraoral sites.", "output": {"entities": {"gene": [{"text": "BCL2", "start": 72, "end": 76}], "disease": [{"text": "FL", "start": 162, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCL2", "start": 72, "end": 76}, "tail": {"text": "FL", "start": 162, "end": 164}}]}}, "schema": []}
{"input": "Thus, PRRT2 mutations also cause sporadic PKD as might be expected given the variable expressivity and reduced penetrance observed in familial PKD.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 6, "end": 11}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "However, the AF of the DRB1 * 15: 02 and DRB5 * 01: 02 was not different among SSc patients with or without clinical manifestations (pulmonary fibrosis, digital pitting scar, sclerodactyly, myositis, and sicca symptoms).", "output": {"entities": {"gene": [{"text": "DRB1", "start": 23, "end": 27}], "disease": [{"text": "sclerodactyly", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We found that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to both sporadic and familial PDB.", "output": {"entities": {"gene": [{"text": "OPG", "start": 79, "end": 82}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "This suggests the existence of less severe forms of BCD related to relatively mild CYP4V2 mutations.", "output": {"entities": {"gene": [{"text": "CYP4V2", "start": 83, "end": 89}], "disease": [{"text": "mild", "start": 78, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Instead, a second progesterone dose delays the fall of p21 and enhances the rise of p27 (Kip1), thereby intensifying the progesterone resistance in an autoinhibitory loop.", "output": {"entities": {"gene": [{"text": "p21", "start": 55, "end": 58}], "disease": [{"text": "fall", "start": 47, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "However, in contact activation-induced pulmonary thromboembolism by collagen/epinephrine or long-chain polyphosphate, Klkb1 (-/-) mice, unlike F12 (-/-) mice, do not have survival advantage.", "output": {"entities": {"gene": [{"text": "Klkb1", "start": 118, "end": 123}], "disease": [{"text": "pulmonary thromboembolism", "start": 39, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Klkb1", "start": 118, "end": 123}, "tail": {"text": "pulmonary thromboembolism", "start": 39, "end": 64}}]}}, "schema": []}
{"input": "Loss of Pum1 caused progressive motor dysfunction and SCA1-like neurodegeneration with motor impairment, primarily by increasing Ataxin1 levels.", "output": {"entities": {"gene": [{"text": "Pum1", "start": 8, "end": 12}], "disease": [{"text": "neurodegeneration", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG) 24 (CAA) (CAG) 9, who showed a phenotype compatible with SCA-2.", "output": {"entities": {"gene": [{"text": "SCA-2", "start": 156, "end": 161}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In NASH, the LOX-1 polymorphism is associated with liver disease severity and may predispose to CVD through modulation of postprandial small TRLPs and adipokine balance and to diabetes by affecting both insulin secretion and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "LOX-1", "start": 13, "end": 18}], "disease": [{"text": "insulin sensitivity", "start": 225, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Patient factor VIII, von Willebrand factor, (vWF), fibrinogen, F1. 2 and D dimer were all significantly increased (p < 0. 01; antithrombin III, protein C and proteins were similar to controls.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 126, "end": 142}], "disease": [{"text": "fibrinogen", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease.", "output": {"entities": {"gene": [{"text": "FTCD", "start": 120, "end": 124}], "disease": [{"text": "glutamate formiminotransferase deficiency", "start": 44, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FTCD", "start": 120, "end": 124}, "tail": {"text": "glutamate formiminotransferase deficiency", "start": 44, "end": 85}}]}}, "schema": []}
{"input": "This is the first URO-D mutation to be characterized in a pedigree with familial PCT.", "output": {"entities": {"gene": [{"text": "URO-D", "start": 18, "end": 23}], "disease": [{"text": "PCT", "start": 81, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "URO-D", "start": 18, "end": 23}, "tail": {"text": "PCT", "start": 81, "end": 84}}]}}, "schema": []}
{"input": "TNF-alpha treatment led to a strong translocation of p65 and p50, whereas pretreatment with IL-10 followed by TNF-alpha blocked p65 translocation but did not alter the strong translocation of p50.", "output": {"entities": {"gene": [{"text": "p50", "start": 61, "end": 64}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37. 3 deletion syndrome.", "output": {"entities": {"gene": [{"text": "FARP2", "start": 0, "end": 5}], "disease": [{"text": "autism", "start": 58, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FARP2", "start": 0, "end": 5}, "tail": {"text": "autism", "start": 58, "end": 64}}]}}, "schema": []}
{"input": "A fusion peptide derived from the calpain cleavage site in TRPC6 inhibited degradation of TRPC6, reduced infarct size, and improved behavioral performance measures via the cAMP response element-binding protein (CREB) signaling pathway.", "output": {"entities": {"gene": [{"text": "TRPC6", "start": 59, "end": 64}], "disease": [{"text": "infarct", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Whole-tissue sections of 309 tumors were evaluated: 49 LGFMSs (all with FUS gene rearrangement confirmed by fluorescence in situ hybridization), 40 soft tissue perineuriomas, 40 myxofibrosarcomas, 20 cellular myxomas, 20 solitary fibrous tumors, 20 low-grade malignant peripheral nerve sheath tumors, 20 cases of desmoid fibromatosis, 20 neurofibromas, 20 schwannomas, 20 monophasic synovial sarcomas, 20 cases of dermatofibrosarcoma protuberans, 10 myxoid liposarcomas, and 10 extraskeletal myxoid chondrosarcomas.", "output": {"entities": {"gene": [{"text": "FUS gene", "start": 72, "end": 80}], "disease": [{"text": "desmoid fibromatosis", "start": 313, "end": 333}]}, "relations": {}}, "schema": []}
{"input": "More recently, we found heterozygous COL6A1 glycine substitutions in patients with UCMD with SSCD.", "output": {"entities": {"gene": [{"text": "COL6A1", "start": 37, "end": 43}], "disease": [{"text": "UCMD", "start": 83, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL6A1", "start": 37, "end": 43}, "tail": {"text": "UCMD", "start": 83, "end": 87}}]}}, "schema": []}
{"input": "A polymorphism in the promoter region of the UDP-glucuronosyltransferase 1 (UGT1A) gene is associated with Gilbert syndrome (GS), a benign form of mild unconjugated hyperbilirubinemia.", "output": {"entities": {"gene": [{"text": "UGT1A", "start": 76, "end": 81}], "disease": [{"text": "mild", "start": 147, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Components of both PcG protein complexes PRC2 (EZH2, EED, YY1) and PRC1 (BMI1, RING1, HPH1, HPC1, HPC2) were immunohistochemically identified in tissue microarrays of 114 prostate cancer patients.", "output": {"entities": {"gene": [{"text": "EED", "start": 53, "end": 56}], "disease": [{"text": "prostate cancer", "start": 171, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of ICAM-1 and VCAM-1 in the lung of nitrofen-induced congenital diaphragmatic hernia in rats.", "output": {"entities": {"gene": [{"text": "VCAM-1", "start": 35, "end": 41}], "disease": [{"text": "diaphragmatic hernia", "start": 85, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VCAM-1", "start": 35, "end": 41}, "tail": {"text": "diaphragmatic hernia", "start": 85, "end": 105}}]}}, "schema": []}
{"input": "We used complementary DNA (cDNA) microarrays to compare gene expression patterns in ovarian cancers associated with BRCA1 or BRCA2 mutations with gene expression patterns in sporadic epithelial ovarian cancers and to identify patterns common to both hereditary and sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 125, "end": 130}], "disease": [{"text": "sporadic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The GSTA1 homozygous wild-type genotype was significantly more often present in patients with gastric cancer compared with controls (odds ratio 4. 3, 95% CI 1. 2-17), which was even more apparent after adjustment for age, gender, current smoking, current alcohol consumption, and polymorphisms in GSTP1, GSTT1, or GSTM1 (odds ratio 5. 0, 95% CI 1. 2-25).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 297, "end": 302}], "disease": [{"text": "alcohol consumption", "start": 255, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "The finding implies the abnormal variant of COMT and ARVCF may account for the pathogenesis of HSCR.", "output": {"entities": {"gene": [{"text": "COMT", "start": 44, "end": 48}], "disease": [{"text": "HSCR", "start": 95, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COMT", "start": 44, "end": 48}, "tail": {"text": "HSCR", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "Importantly, we show that the development of a subset of sporadic tumours is similar to that of either familial BRCA1-or BRCA2 tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 121, "end": 126}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in these patients, only Plin2 was associated with the decrease of muscle strength and the expression of factors related to muscle atrophy (MuRF1, Atrogin and p53).", "output": {"entities": {"gene": [{"text": "p53", "start": 168, "end": 171}], "disease": [{"text": "muscle atrophy", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "It is possible that GATA3 mutations occur earlier in the evolution of BRCAx tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 103, "end": 108}], "disease": [{"text": "sporadic", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Our data identified TMTC3 as a synaptic protein that is involved in PVNH with ID and epilepsy, in addition to its previously described association with cobblestone lissencephaly.", "output": {"entities": {"gene": [{"text": "TMTC3", "start": 20, "end": 25}], "disease": [{"text": "PVNH", "start": 68, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMTC3", "start": 20, "end": 25}, "tail": {"text": "PVNH", "start": 68, "end": 72}}]}}, "schema": []}
{"input": "Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.", "output": {"entities": {"gene": [{"text": "VHL", "start": 40, "end": 43}], "disease": [{"text": "erythrocytosis", "start": 68, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VHL", "start": 40, "end": 43}, "tail": {"text": "erythrocytosis", "start": 68, "end": 82}}]}}, "schema": []}
{"input": "We analyzed the US Cystic Fibrosis Foundation Patient Registry data using Cox regression to examine the relationship between sweat chloride concentration (< 60, 60-< 80, ≥ 80mmol/L), CFTR genotype (high and lower risk for lung function decline), and survival and mixed linear regression to examine the relationship between sweat chloride, CFTR genotype, and measures of lung function and growth.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 183, "end": 187}], "disease": [{"text": "regression", "start": 78, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We found low baseline levels of a 4. 5-kb PRAD1 transcript in a series of control cell lines, which were derived from normal fibroblasts, various hematologic malignancies, and a choriocarcinoma.", "output": {"entities": {"gene": [{"text": "PRAD1", "start": 42, "end": 47}], "disease": [{"text": "choriocarcinoma", "start": 178, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Case-control association study of 14 variants of CREB1, CREBBP and CREM on diagnosis and treatment outcome in major depressive disorder and bipolar disorder.", "output": {"entities": {"gene": [{"text": "CREB1", "start": 49, "end": 54}], "disease": [{"text": "bipolar disorder", "start": 140, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CREB1", "start": 49, "end": 54}, "tail": {"text": "bipolar disorder", "start": 140, "end": 156}}]}}, "schema": []}
{"input": "MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.", "output": {"entities": {"gene": [{"text": "MCM9", "start": 0, "end": 4}], "disease": [{"text": "chromosomal instability", "start": 71, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In light of the variability in the clinical spectrum of X-linked hypophosphatemic rickets and the presence of a PHEX mutation in affected members of this kindred, we conclude that there is only one form of X-linked dominant phosphate wasting.", "output": {"entities": {"gene": [{"text": "PHEX", "start": 112, "end": 116}], "disease": [{"text": "X-linked hypophosphatemic rickets", "start": 56, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PHEX", "start": 112, "end": 116}, "tail": {"text": "X-linked hypophosphatemic rickets", "start": 56, "end": 89}}]}}, "schema": []}
{"input": "Overall these findings demonstrate silibinin was able to reverse EMT to suppress the invasive property of metastatic prostate cancer cells at the transcriptional level.", "output": {"entities": {"gene": [{"text": "EMT", "start": 65, "end": 68}], "disease": [{"text": "metastatic prostate cancer", "start": 106, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, activation of EGFRWT with EGF results in a negative regulation of EGFRvIII, with dissociation of the EGFRvIII-RIP1 signalosome, loss of RIP1 ubiquitination and NF-κB activation, and association of RIP1 with FADD and caspase-8.", "output": {"entities": {"gene": [{"text": "FADD", "start": 221, "end": 225}], "disease": [{"text": "dissociation", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Dominant negative AT2 receptor oligomers induce G-protein arrest and symptoms of neurodegeneration.", "output": {"entities": {"gene": [{"text": "AT2", "start": 18, "end": 21}], "disease": [{"text": "neurodegeneration", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "ACTH-induced cortisol release is related to the copy number of the C4B gene encoding the fourth component of complement in patients with non-functional adrenal incidentaloma.", "output": {"entities": {"gene": [{"text": "C4B gene", "start": 67, "end": 75}], "disease": [{"text": "adrenal incidentaloma", "start": 152, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the Xpa gene and the NER pathway are involved in repair of bulky PhIP-DNA adducts in the intestines and the liver, and most probably of DNA lesions leading to spontaneous intestinal tumors.", "output": {"entities": {"gene": [{"text": "Xpa", "start": 19, "end": 22}], "disease": [{"text": "intestinal tumors", "start": 186, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Xpa", "start": 19, "end": 22}, "tail": {"text": "intestinal tumors", "start": 186, "end": 203}}]}}, "schema": []}
{"input": "In this study, we performed bioinformatics analysis in two datasets of pancreatic ductal adenocarcinoma, which causes cancer cachexia and muscle wasting with the highest prevalence, and uncovered that IGFBP3, which encodes IGF-binding protein-3 (IGFBP-3), is dramatically up-regulated in pancreatic tumor samples.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 201, "end": 207}], "disease": [{"text": "cachexia", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Soluble endothelial protein C receptor (sEPCR) is likely a biomarker of cancer-associated hypercoagulability in human hematologic malignancies.", "output": {"entities": {"gene": [{"text": "endothelial protein C receptor", "start": 8, "end": 38}], "disease": [{"text": "hematologic malignancies", "start": 118, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Associations of APOE gene polymorphisms with bone mineral density and fracture risk: a meta-analysis.", "output": {"entities": {"gene": [{"text": "APOE gene", "start": 16, "end": 25}], "disease": [{"text": "bone mineral density", "start": 45, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Several further manifestations are associated with B19 infections, such as arthralgias, arthritis, leucopenia and thrombocytopenia, anaemia and vasculitis and spontaneous abortion and hydrops fetalis in pregnant women.", "output": {"entities": {"gene": [{"text": "B19", "start": 51, "end": 54}], "disease": [{"text": "vasculitis", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "As a consequence of PPAR-gamma activation, pulmonary leukostasis was decreased and oxygenation and overall survival were improved.", "output": {"entities": {"gene": [{"text": "PPAR-gamma", "start": 20, "end": 30}], "disease": [{"text": "leukostasis", "start": 53, "end": 64}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPAR-gamma", "start": 20, "end": 30}, "tail": {"text": "leukostasis", "start": 53, "end": 64}}]}}, "schema": []}
{"input": "This study demonstrates that the NCX is an important mechanism for cell death in myocardial ischemia and reperfusion in rats.", "output": {"entities": {"gene": [{"text": "NCX", "start": 33, "end": 36}], "disease": [{"text": "myocardial ischemia", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that CEA, in some systems, can interfere with intercellular adhesion and, at least for cells not metastatic to the liver, can act as an anti-metastatic molecule.", "output": {"entities": {"gene": [{"text": "CEA", "start": 24, "end": 27}], "disease": [{"text": "adhesion", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Tissue remodeling changes in both species included increases in the TIMP proteins, inhibitors of matrix degradation, the gene/protein of IL-4 linked with cardiac fibrosis, and the gene Ccl7 a chemokine that induces collagen synthesis, and Reg3b a growth factor for cardiac repair.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 137, "end": 141}], "disease": [{"text": "fibrosis", "start": 162, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-4", "start": 137, "end": 141}, "tail": {"text": "fibrosis", "start": 162, "end": 170}}]}}, "schema": []}
{"input": "At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 84, "end": 89}], "disease": [{"text": "tonic-clonic convulsions", "start": 129, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-2", "start": 84, "end": 89}, "tail": {"text": "tonic-clonic convulsions", "start": 129, "end": 153}}]}}, "schema": []}
{"input": "Within cerebellar-plus syndromes, VEP, BAEP and SEP abnormalities were more frequent in inherited cases (ADCA I and II, along with autosomal recessive LOCA) than in sporadic ones.", "output": {"entities": {"gene": [{"text": "SEP", "start": 48, "end": 51}], "disease": [{"text": "sporadic", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "However, in ARF rats, ALR expression increased significantly in both the renal cortex and medulla.", "output": {"entities": {"gene": [{"text": "ALR", "start": 22, "end": 25}], "disease": [{"text": "ARF", "start": 12, "end": 15}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ALR", "start": 22, "end": 25}, "tail": {"text": "ARF", "start": 12, "end": 15}}]}}, "schema": []}
{"input": "Defective aldosterone receptor binding is present in familial as well as sporadic cases and it has been suggested that the pathogenesis is due to a defect in the aldosterone receptor system.", "output": {"entities": {"gene": [{"text": "aldosterone receptor", "start": 10, "end": 30}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The angiogenic response in aged rats was further diminished by the persistent upregulation of \" inflammatory \" genes (Cxcl12, Mmp8, Mmp12, Mmp14, Mpeg1, Tnfrsf1a, Tnfrsf1b) and vigorous expression of genes required for the buildup of the fibrotic scar (Cthrc1, Il6ra, Il13ar1, Il18, Mmp2, Rassf4, Tgfb1, Tgfbr2, Timp1).", "output": {"entities": {"gene": [{"text": "Il6ra", "start": 261, "end": 266}], "disease": [{"text": "scar", "start": 247, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "We studied a series of 120 sporadic breast carcinomas using microsatellite markers to identify LOH of BRCA1, BRCA2, p53 and PTEN.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 109, "end": 114}], "disease": [{"text": "sporadic", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Autocrine production of interleukin-8 confers cisplatin and paclitaxel resistance in ovarian cancer cells.", "output": {"entities": {"gene": [{"text": "interleukin-8", "start": 24, "end": 37}], "disease": [{"text": "ovarian cancer", "start": 85, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-8", "start": 24, "end": 37}, "tail": {"text": "ovarian cancer", "start": 85, "end": 99}}]}}, "schema": []}
{"input": "The immunophenotypic profiles of UCP-L were confirmed to correspond to the presumptive lymphoma cell population by use of a live gating procedure on the large cells, which eliminated interference by reactive cells or necrotic tissue fragments.", "output": {"entities": {"gene": [{"text": "UCP", "start": 33, "end": 36}], "disease": [{"text": "necrotic", "start": 217, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "TDI-induced asthma is an inflammatory disease of the airways that is associated with airway remodeling.", "output": {"entities": {"gene": [{"text": "TDI", "start": 0, "end": 3}], "disease": [{"text": "inflammatory disease", "start": 25, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Promoter specific DNA methylation of the POMC gene and expression of POMC mRNA variants were determined in peripheral blood mononuclear cells (PBMC) of 30 healthy control women (HCW), 31 underweight (acAN) and 30 weight-recovered patients with AN (recAN).", "output": {"entities": {"gene": [{"text": "POMC", "start": 41, "end": 45}], "disease": [{"text": "underweight", "start": 187, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Certain immunophenotypes (low CD11b, high HLA-Dr, CD34, CD13 and CD45), clonal granulocytes, multiple chromosomal abnormalities, chromosomal instability, short telomeres and high telomerase activity were also reported as PPF.", "output": {"entities": {"gene": [{"text": "CD13", "start": 56, "end": 60}], "disease": [{"text": "chromosomal instability", "start": 129, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T2 signal abnormalities and diffusion restriction in the posterior limb of the internal capsule, often also optic radiation, brainstem tracts, and cerebellar white matter, in combination with delayed myelination and progressive brain atrophy.", "output": {"entities": {"gene": [{"text": "MRI", "start": 81, "end": 84}], "disease": [{"text": "delayed myelination", "start": 302, "end": 321}]}, "relations": {}}, "schema": []}
{"input": "OTX2 mutations contribute to the otocephaly-dysgnathia complex.", "output": {"entities": {"gene": [{"text": "OTX2", "start": 0, "end": 4}], "disease": [{"text": "dysgnathia complex", "start": 44, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OTX2", "start": 0, "end": 4}, "tail": {"text": "dysgnathia complex", "start": 44, "end": 62}}]}}, "schema": []}
{"input": "These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild-type breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 45, "end": 50}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Therefore, it is of clinical interest to investigate whether AS against Glut5 mRNA can tackle breast cancer.", "output": {"entities": {"gene": [{"text": "Glut5", "start": 72, "end": 77}], "disease": [{"text": "breast cancer", "start": 94, "end": 107}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Glut5", "start": 72, "end": 77}, "tail": {"text": "breast cancer", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Alpha-betaTCR +, CD4 and CD8 + T cells are involved in different drug hypersensitivity reactions.", "output": {"entities": {"gene": [{"text": "CD4", "start": 17, "end": 20}], "disease": [{"text": "hypersensitivity reactions", "start": 70, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In the CHE2 C5-obese group, significant regression coefficients were found between BChE activity variables and BMI (+), ethnic origin (higher in Euro-Brazilians), sex (higher in males), diastolic pressure (-), triceps skinfold (+), total cholesterol (+), T (3) (+) and E (2) (-).", "output": {"entities": {"gene": [{"text": "BChE", "start": 83, "end": 87}], "disease": [{"text": "diastolic pressure", "start": 186, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present study was to examine possible association of GSTM1 and GSTT1 gene deletion polymorphisms, alone or in combination, with bone mineral density at femoral neck (BMD_fn), lumbar spine (BMD_ls) and total hip (BMD_th) in Slovenian elderly women and men. GSTM1 and GSTT1 gene deletion polymorphisms in 712 elderly people were analyzed using the triplex PCR method for the presence of GSTM1 and GSTT1 gene segments.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 68, "end": 73}], "disease": [{"text": "bone mineral density", "start": 143, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 78, "end": 82}], "disease": [{"text": "cystic fibrosis", "start": 8, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 78, "end": 82}, "tail": {"text": "cystic fibrosis", "start": 8, "end": 23}}]}}, "schema": []}
{"input": "The ASC-MDA7 only reduced tumor growth in the TRAMP-C2-Ras (TC2Ras) prostate cancer model.", "output": {"entities": {"gene": [{"text": "MDA7", "start": 8, "end": 12}], "disease": [{"text": "prostate cancer", "start": 68, "end": 83}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MDA7", "start": 8, "end": 12}, "tail": {"text": "prostate cancer", "start": 68, "end": 83}}]}}, "schema": []}
{"input": "We analyzed promoter methylation of RASSF1A, CTNNB1, CDH1, LAMB3, LAMC2, RUNX3, NORE1A, and CAV1 using methylation-specific PCR in 33 cases of small bowel carcinoid with both matched primary and metastatic tumors.", "output": {"entities": {"gene": [{"text": "CAV1", "start": 92, "end": 96}], "disease": [{"text": "carcinoid", "start": 155, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.", "output": {"entities": {"gene": [{"text": "FUS", "start": 6, "end": 9}], "disease": [{"text": "juvenile amyotrophic lateral sclerosis", "start": 68, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FUS", "start": 6, "end": 9}, "tail": {"text": "juvenile amyotrophic lateral sclerosis", "start": 68, "end": 106}}]}}, "schema": []}
{"input": "Therefore, aggressiveness of MLH1-positive CRC might be related to SPTAN1.", "output": {"entities": {"gene": [{"text": "SPTAN1", "start": 67, "end": 73}], "disease": [{"text": "aggressiveness", "start": 11, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The proportion of rearranged chromosomes was lower in T-ALL than in other forms of T-cell leukaemia and it was lower in cases with the CD4-/CD8 + phenotype than in those with a CD4 +/CD8-phenotype.", "output": {"entities": {"gene": [{"text": "CD4", "start": 135, "end": 138}], "disease": [{"text": "leukaemia", "start": 90, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We genotyped 23 single nucleotide polymorphisms (SNPs) in the PDYN and OPRK1 genes in 816 alcohol-dependent subjects and investigated their association with: (1) negative craving measured by a subscale of the Inventory of Drug Taking Situations; (2) a self-reported history of depression; (3) the intensity of depressive symptoms measured by the Beck Depression Inventory-II.", "output": {"entities": {"gene": [{"text": "OPRK1", "start": 71, "end": 76}], "disease": [{"text": "Depression", "start": 351, "end": 361}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPRK1", "start": 71, "end": 76}, "tail": {"text": "Depression", "start": 351, "end": 361}}]}}, "schema": []}
{"input": "The AR expression was significantly more prevalent, however, in a series of 61 sporadic breast tumors (80%) and in BRCA2-mutated tumors (50%).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 115, "end": 120}], "disease": [{"text": "sporadic", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Tetramer analysis showed that emergence of LRH-1-specific CD8 + cytotoxic T cells in peripheral blood and bone marrow correlated with complete remission of chronic myeloid leukemia.", "output": {"entities": {"gene": [{"text": "CD8", "start": 58, "end": 61}], "disease": [{"text": "chronic myeloid leukemia", "start": 156, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Using a sigmoidoscopy-based case-control study (753 cases, 799 controls) in Los Angeles County, we investigated the potential modifier role in the effect of alcohol and smoking of single-nucleotide polymorphisms (SNP) in three DNA repair genes, XRCC1 (Arg194Trp and Arg399Gln), XRCC3 (Thr241Met), and XPD (Lys751Gln).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 245, "end": 250}], "disease": [{"text": "smoking", "start": 169, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The FSHR gene variations Asn680Ser as well as Ile160Thr may be contributing factors in unexplained sterility.", "output": {"entities": {"gene": [{"text": "FSHR gene", "start": 4, "end": 13}], "disease": [{"text": "sterility", "start": 99, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, which we previously reported in a patient with sporadic intractable childhood localization-related epilepsy, remains unique.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 16, "end": 21}], "disease": [{"text": "sporadic", "start": 165, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "PCDH19 mutations might account for 5 & #65397; of overall DS cases.", "output": {"entities": {"gene": [{"text": "PCDH19", "start": 0, "end": 6}], "disease": [{"text": "DS", "start": 58, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCDH19", "start": 0, "end": 6}, "tail": {"text": "DS", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "Several hypotheses have been proposed to explain the etiology of this constitution: translocation of the testis-determining factor (TDF) from the Y to the X chromosome, mutation in an autosomal or X chromosomal gene which permits testicular determination in the absence of TDF, and undetected mosaicism with a Y-bearing cell line.", "output": {"entities": {"gene": [{"text": "TDF", "start": 132, "end": 135}], "disease": [{"text": "translocation", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "), given prior to the start of CIP, increased PGE2 generation in the pancreas (by 45%), reversed the histological manifestations of pancreatitis, reduced the rise in amylase blood level and improved PBF.", "output": {"entities": {"gene": [{"text": "PBF", "start": 199, "end": 202}], "disease": [{"text": "pancreatitis", "start": 132, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "We determined levels of protein C, protein S, factor VIII, and fibrinogen and tested for the factor V Leiden and prothrombin G20210A mutations.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 46, "end": 57}], "disease": [{"text": "fibrinogen", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Oral submucous fibrosis (OSF) is a precancerous condition of oral mucosa with inflammation and progressive fibrosis of the lamina propria and deeper connective tissue.", "output": {"entities": {"gene": [{"text": "OSF", "start": 25, "end": 28}], "disease": [{"text": "fibrosis", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Positively selected CD4 + and CD8 + peripheral blood T cells were isolated from subjects with active ulcerative colitis, Crohn' s disease, and diverticulitis and from normal controls.", "output": {"entities": {"gene": [{"text": "CD4", "start": 20, "end": 23}], "disease": [{"text": "ulcerative colitis", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We aimed to determine the NO content in the cerebrospinal fluid (CSF) and the expression of NO synthase (NOS) isoforms, that is, NOS1, NOS2, and NOS3 in the ACC in depression.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 135, "end": 139}], "disease": [{"text": "depression", "start": 164, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2", "start": 135, "end": 139}, "tail": {"text": "depression", "start": 164, "end": 174}}]}}, "schema": []}
{"input": "Our findings indicate that elafin and SLPI may be gene therapy targets for the treatment of atheroma.", "output": {"entities": {"gene": [{"text": "elafin", "start": 27, "end": 33}], "disease": [{"text": "atheroma", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Many polymorphisms in genes, such as ELAC2 (locus HPC2), RNase L (locus hereditary prostate cancer 1 gene [HPC1]), and MSR1 have been recognized as important genetic factors that confer an increased risk of developing prostate cancer in many populations.", "output": {"entities": {"gene": [{"text": "RNase L", "start": 57, "end": 64}], "disease": [{"text": "hereditary prostate cancer", "start": 72, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNase L", "start": 57, "end": 64}, "tail": {"text": "hereditary prostate cancer", "start": 72, "end": 98}}]}}, "schema": []}
{"input": "We have identified a second Ewing' s sarcoma translocation, t (21; 22) (q22; q12), that fuses EWS to a different ETS family member, the ERG gene located on band 21q22.", "output": {"entities": {"gene": [{"text": "EWS", "start": 94, "end": 97}], "disease": [{"text": "translocation", "start": 45, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Postprandial LDL-conjugated diene response predicted severe necroinflammation (OR: 3. 3; CI 1. 4-9. 7; P = 0. 016) and fibrosis (OR: 2. 8; CI 1. 0-8, 5; P = 0. 030); postprandial apoA1 fall predicts severe fibrosis (OR: 2. 1; CI: 1. 5-6. 1; P = 0. 015).", "output": {"entities": {"gene": [{"text": "apoA1", "start": 179, "end": 184}], "disease": [{"text": "fibrosis", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Here we analyzed isolates of S. mutans (n = 70 isolates) from caries and caries-free human extremes (n = 19 subjects) by multilocus sequence typing (MLST), AgI/II full-length gene sequencing, and adhesion to parotid saliva matched from the strain donors (nested from a case-control sample of defined gp340 and acidic proline-rich protein [PRP] profiles).", "output": {"entities": {"gene": [{"text": "gp340", "start": 300, "end": 305}], "disease": [{"text": "adhesion", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "A subset of genes including EVL, GATAs (4 and 5), HIN-1, SFRPs (1, 2, 4 and 5), SOX17 and SYNE1 were methylated frequently in all premalignant gastrointestinal adenomas including tubular adenomas, villous adenomas, SSAs and SSAs with dysplasia but infrequently in non-premalignant polyps such as HPPs.", "output": {"entities": {"gene": [{"text": "EVL", "start": 28, "end": 31}], "disease": [{"text": "polyps", "start": 281, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "T-helper type 2 (Th2) inflammation, mediated by IL-4, IL-5, and IL-13, is considered the central molecular mechanism underlying asthma, and Th2 cytokines are emerging therapeutic targets.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 48, "end": 52}], "disease": [{"text": "inflammation", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "GH prevents neuronal death through its actions on neurons involving a p53-mediated pathway and also improved in vivo neurological function, indicating that GH may have a role in the treatment of HIV-induced neurodegeneration.", "output": {"entities": {"gene": [{"text": "p53", "start": 70, "end": 73}], "disease": [{"text": "neurodegeneration", "start": 207, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "P300 amplitude in childhood predicts substance use disorders by young adulthood.", "output": {"entities": {"gene": [{"text": "P300", "start": 0, "end": 4}], "disease": [{"text": "substance use disorders", "start": 37, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that Prx-1 may become a novel target of drugs and vaccines for schistosomiasis.", "output": {"entities": {"gene": [{"text": "Prx-1", "start": 28, "end": 33}], "disease": [{"text": "schistosomiasis", "start": 86, "end": 101}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Prx-1", "start": 28, "end": 33}, "tail": {"text": "schistosomiasis", "start": 86, "end": 101}}]}}, "schema": []}
{"input": "Post-treatment with S14080 dose-dependently antagonized the hyperalgesia induced by prostaglandin E2, bradykinin, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8). 3.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 102, "end": 112}], "disease": [{"text": "hyperalgesia", "start": 60, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 102, "end": 112}, "tail": {"text": "hyperalgesia", "start": 60, "end": 72}}]}}, "schema": []}
{"input": "Incubation with interleukin-2 further increased the cytotoxic activity against EpCAM-positive ovarian cancer cell lines.", "output": {"entities": {"gene": [{"text": "EpCAM", "start": 79, "end": 84}], "disease": [{"text": "ovarian cancer", "start": 94, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EpCAM", "start": 79, "end": 84}, "tail": {"text": "ovarian cancer", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "We observed that xenogenic MSC selectively migrated to the tumor site, proliferated and expressed the exogenous gene in subcutaneous fibrosarcoma transplants.", "output": {"entities": {"gene": [{"text": "MSC", "start": 27, "end": 30}], "disease": [{"text": "fibrosarcoma", "start": 133, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of hsa-miR-29c and hsa-miR-135b in normal gastric mucosa, non-atrophic chronic gastritis, intestinal metaplasia and intestinal-type gastric adenocarcinoma were analysed using quantitative real-time PCR.", "output": {"entities": {"gene": [{"text": "hsa-miR-29c", "start": 25, "end": 36}], "disease": [{"text": "chronic gastritis", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "However, in spite of detectable CD4 T cell responses in vitro and in vivo, no effective anti-leukemia immunity was established.", "output": {"entities": {"gene": [{"text": "CD4", "start": 32, "end": 35}], "disease": [{"text": "leukemia", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Stimulation of Notch causes cleavage followed by translocation of the intracellular domain (NotchIC) to the nucleus, where it activates transcription of CBF1 responsive genes.", "output": {"entities": {"gene": [{"text": "CBF1", "start": 153, "end": 157}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Tumor-specific alterations at the p53 gene locus in 30 human vestibular schwannomas (VS) comprising 10 confirmed NF2 cases and 20 sporadic cases were analyzed.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 34, "end": 42}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Protein deficiency in normal rats resulted in a significant increase in hepatic activities of catalase, glutathione peroxidase, glutathione reductase, and glutathione-S-transferase and the levels of lipid peroxidation.", "output": {"entities": {"gene": [{"text": "glutathione reductase", "start": 128, "end": 149}], "disease": [{"text": "Protein deficiency", "start": 0, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glutathione reductase", "start": 128, "end": 149}, "tail": {"text": "Protein deficiency", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "Inhibition of NFAT signalling, by shifting the AIF-1/IRT-1 ratio, may be an attractive target to regulate the VSMC response to injury and manipulate plaque stability in atherosclerosis.", "output": {"entities": {"gene": [{"text": "IRT-1", "start": 53, "end": 58}], "disease": [{"text": "plaque", "start": 149, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Substance P and capsaicin-induced mechanical hyperalgesia in the rat knee joint; the involvement of bradykinin B1 and B2 receptors.", "output": {"entities": {"gene": [{"text": "Substance P", "start": 0, "end": 11}], "disease": [{"text": "mechanical hyperalgesia", "start": 34, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Substance P", "start": 0, "end": 11}, "tail": {"text": "mechanical hyperalgesia", "start": 34, "end": 57}}]}}, "schema": []}
{"input": "The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity: etiologies for sporadic miscarriage.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 35, "end": 46}], "disease": [{"text": "miscarriage", "start": 123, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate a potentially novel strategy for the treatment of colon cancer, one that targets CK2 simultaneous with TNF-alpha administration.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 125, "end": 134}], "disease": [{"text": "colon cancer", "start": 72, "end": 84}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNF-alpha", "start": 125, "end": 134}, "tail": {"text": "colon cancer", "start": 72, "end": 84}}]}}, "schema": []}
{"input": "Allelic loss at the TRIM37 locus (17q22-23) was observed in 6% of sporadic fibrothecomas.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 20, "end": 26}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Following this insult, we observed a loss of 90% of the CA1 neurons by 72 h post-ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 56, "end": 59}], "disease": [{"text": "ischemia", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.", "output": {"entities": {"gene": [{"text": "CARS", "start": 217, "end": 221}], "disease": [{"text": "alcohol dependence", "start": 240, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CARS", "start": 217, "end": 221}, "tail": {"text": "alcohol dependence", "start": 240, "end": 258}}]}}, "schema": []}
{"input": "Thus, our results suggest that NFATc3 is a downstream target of the CXCL13/CXCR5 axis to stimulate RANKL expression in OSCC cells and implicates CXCL13 as a potential therapeutic target to prevent OSCC bone invasion/osteolysis.", "output": {"entities": {"gene": [{"text": "CXCR5", "start": 75, "end": 80}], "disease": [{"text": "osteolysis", "start": 216, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Marginal hypertensives, both Black and White, had greater systolic blood pressure (SBP) levels (p less than 0. 001) and greater diastolic blood pressure (DBP) levels (p less than 0. 01) in response to stress.", "output": {"entities": {"gene": [{"text": "DBP", "start": 154, "end": 157}], "disease": [{"text": "systolic blood pressure", "start": 58, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "rs900400 near LEKR1 and CCNL1 (P = 2 x 10 (-35)) and rs9883204 in ADCY5 (P = 7 x 10 (-15)) were robustly associated with birth weight.", "output": {"entities": {"gene": [{"text": "LEKR1", "start": 14, "end": 19}], "disease": [{"text": "birth weight", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Thrombospondin1 (THBS1), cystene-rich protein 61 (Cyr61) and connective tissue growth factor (CTGF) are all involved in the transforming growth factor-beta (TGF-beta) signal pathway, which plays an important role in the tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 50, "end": 55}], "disease": [{"text": "tumorigenesis", "start": 220, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Whether MC4R mutations are involved in the pathogenesis of binge eating disorder needs additional investigation.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 8, "end": 12}], "disease": [{"text": "binge eating disorder", "start": 59, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "No other amygdala nuclei studied showed any significant differences for the prodynorphin mRNA levels measured in the major depression and bipolar disorder subjects.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 76, "end": 88}], "disease": [{"text": "major depression", "start": 117, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 76, "end": 88}, "tail": {"text": "major depression", "start": 117, "end": 133}}]}}, "schema": []}
{"input": "Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (p. Gly189Arg) near the active site of NFU1, an Fe/S scaffold protein.", "output": {"entities": {"gene": [{"text": "NFU1", "start": 162, "end": 166}], "disease": [{"text": "MMDS1", "start": 69, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NFU1", "start": 162, "end": 166}, "tail": {"text": "MMDS1", "start": 69, "end": 74}}]}}, "schema": []}
{"input": "This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia.", "output": {"entities": {"gene": [{"text": "ARL6IP1", "start": 35, "end": 42}], "disease": [{"text": "spastic paraplegia", "start": 95, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARL6IP1", "start": 35, "end": 42}, "tail": {"text": "spastic paraplegia", "start": 95, "end": 113}}]}}, "schema": []}
{"input": "Sorafenib is a multi-kinase inhibitor that has been proven effective for the treatment of unresectable hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 129, "end": 132}], "disease": [{"text": "unresectable hepatocellular carcinoma", "start": 90, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "This study suggests that the-443C > T gene polymorphisms may be used as a molecular marker for glioma occurrence and clinical outcome in glioma patients.", "output": {"entities": {"gene": [{"text": "T gene", "start": 36, "end": 42}], "disease": [{"text": "glioma", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the entire coding region of the NF2 gene in 70 sporadic meningiomas and identified 43 mutations in 41 patients.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 49, "end": 57}], "disease": [{"text": "sporadic", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Reduced TRPC7 gene expression may be a trait associated with pathophysiological disturbances of Ca (2 +) homeostasis in a subgroup of BD-I patients.", "output": {"entities": {"gene": [{"text": "TRPC7", "start": 8, "end": 13}], "disease": [{"text": "BD", "start": 134, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPC7", "start": 8, "end": 13}, "tail": {"text": "BD", "start": 134, "end": 136}}]}}, "schema": []}
{"input": "Immunohistochemical analysis of the constituent granuloma cells using cell type-specific monoclonal antibodies revealed rapid accumulation of blood monocytes, with subsequent differentiation to macrophages, in CCR2 +/+ mice during days 2-10.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 210, "end": 214}], "disease": [{"text": "granuloma", "start": 48, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 110, "end": 114}], "disease": [{"text": "tonic seizures", "start": 44, "end": 58}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ACTH", "start": 110, "end": 114}, "tail": {"text": "tonic seizures", "start": 44, "end": 58}}]}}, "schema": []}
{"input": "Our data provide evidence for a role of PGC-1α in mitochondrial dysfunction both in the ALS mouse model and in human sporadic ALS that is probably most relevant in the skeletal muscle.", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 40, "end": 46}], "disease": [{"text": "sporadic", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "DNMT1 was expressed at higher levels in both the peritumoral stroma and tumor in inflammatory bowel disease-associated cancers compared with sporadic colon cancers.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Lung ADCs lacking receptor tyrosine kinase-Ras-Raf pathway alterations had mutations in SOS1, VAV1, RASA1, and ARHGAP35.", "output": {"entities": {"gene": [{"text": "RASA1", "start": 100, "end": 105}], "disease": [{"text": "ADC", "start": 5, "end": 8}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RASA1", "start": 100, "end": 105}, "tail": {"text": "ADC", "start": 5, "end": 8}}]}}, "schema": []}
{"input": "Genetic risk for acute pancreatitis (AP), recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP) are increasingly recognized.", "output": {"entities": {"gene": [{"text": "RAP", "start": 72, "end": 75}], "disease": [{"text": "recurrent acute pancreatitis", "start": 42, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and autoimmune diseases.", "output": {"entities": {"gene": [{"text": "LYST", "start": 58, "end": 62}], "disease": [{"text": "secondary", "start": 100, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Primary sporadic breast tumours were analysed for BRCA1alpha promoter methylation by methylation specific PCR and for allelic imbalance (AI) at BRCA1 and BRCA2 loci by microsatellite analysis and TP53 (also known as p53) mutations by constant denaturing gel electrophoresis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 154, "end": 159}], "disease": [{"text": "sporadic", "start": 8, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "In cultured human endothelial cells, the overexpression of FAM5C increased the reactive oxygen species (ROS) production, nuclear factor-κB (NF-κB) activity and the expression of ICAM-1, VCAM-1 and E-selectin mRNAs, resulting in enhanced monocyte adhesion.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 140, "end": 145}], "disease": [{"text": "adhesion", "start": 246, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "We also found that knockdown of G3BP suppressed the adhesion, while its overexpression increased the adhesion.", "output": {"entities": {"gene": [{"text": "G3BP", "start": 32, "end": 36}], "disease": [{"text": "adhesion", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "There were common downstream abnormalities in the execution phase of PCD, as both agonists failed to cleave PARP, or to induce nucleosomal fragmentation.", "output": {"entities": {"gene": [{"text": "PARP", "start": 108, "end": 112}], "disease": [{"text": "abnormalities", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The disparate up-regulation of several genes in adult T-cell leukemia (ATL) versus HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP), seropositive carriers (SPC) and uninfected normals may reflect events at the molecular level related to leukemogenesis or to processes maintaining the heme-oncologic phenotype.", "output": {"entities": {"gene": [{"text": "TSP", "start": 146, "end": 149}], "disease": [{"text": "leukemogenesis", "start": 256, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Predicted target genes for these miRNAs include insulin receptor pathway components (IGF1, IGFR13), cytokines (CCL3, IL6), ghrelin/obestatin gene, and inflammation-related genes (NFKB1, RELB, FAS).", "output": {"entities": {"gene": [{"text": "RELB", "start": 186, "end": 190}], "disease": [{"text": "inflammation", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Leptin was also effective to attenuate aspirin-induced damage and the accompanying fall in the GBF, whereas CCK-8 dose dependently worsened aspirin damage and failed to influence GBF.", "output": {"entities": {"gene": [{"text": "GBF", "start": 95, "end": 98}], "disease": [{"text": "fall", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These findings show that a proportion of patients with apparent primary torsion dystonia and a good response to anticholinergic drugs have GCH1 mutations and therefore have a variant of dopa responsive dystonia.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 139, "end": 143}], "disease": [{"text": "dopa responsive dystonia", "start": 186, "end": 210}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GCH1", "start": 139, "end": 143}, "tail": {"text": "dopa responsive dystonia", "start": 186, "end": 210}}]}}, "schema": []}
{"input": "These results confirm the importance of this site in FGF23 function and its essential role in ADHR physiopathology.", "output": {"entities": {"gene": [{"text": "FGF23", "start": 53, "end": 58}], "disease": [{"text": "ADHR", "start": 94, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGF23", "start": 53, "end": 58}, "tail": {"text": "ADHR", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "In addition, studies of BRCA1-related tumors suggest that there may be some important molecular differences as compared to sporadic tumors, with a predominance of high grade lesions that are ER negative and an increased rate of p53 mutations.", "output": {"entities": {"gene": [{"text": "p53", "start": 228, "end": 231}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "PCNA expression was correlated with the clinical stage, histological grade and clinical recurrence of hypopharyngeal carcinoma as well as the prognosis of the patients, but was not significantly related with the tumor location or the presence of metastasis to the cervical lymph nodes.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 0, "end": 4}], "disease": [{"text": "hypopharyngeal carcinoma", "start": 102, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Sustained NFκB activation, but not persistent intra-acinar expression of active trypsin, was shown to result in chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "NFκB", "start": 10, "end": 14}], "disease": [{"text": "chronic pancreatitis", "start": 112, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Since 1965, at least 15 postoperative or postpartum GAS outbreaks attributed to asymptomatic carriage in health-care workers (HCWs) have been reported.", "output": {"entities": {"gene": [{"text": "GAS", "start": 52, "end": 55}], "disease": [{"text": "asymptomatic", "start": 80, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In a previous report [Jacquet et al., 2005] we have shown that mild to moderate hyperprolinemia resulting from several alterations (either a complete deletion or missense mutations) of the proline dehydrogenase (PRODH) gene located on chromosome 22q11 is a risk factor for schizoaffective disorder but not for DSM3 R schizophrenia or bipolar disorder.", "output": {"entities": {"gene": [{"text": "PRODH", "start": 212, "end": 217}], "disease": [{"text": "bipolar disorder", "start": 334, "end": 350}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRODH", "start": 212, "end": 217}, "tail": {"text": "bipolar disorder", "start": 334, "end": 350}}]}}, "schema": []}
{"input": "HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium.", "output": {"entities": {"gene": [{"text": "HME", "start": 0, "end": 3}], "disease": [{"text": "somatic mutation", "start": 68, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The results showed the frequencies of MIF (-173 C/C and-794 non-CATT (5) carrier) genotypes were significantly higher in the family members of gastric cancer cases than that in the controls family (-173: OR = 2. 59;-794: OR = 2. 65), and the ORs reduced with decreasing relative degrees.", "output": {"entities": {"gene": [{"text": "MIF", "start": 38, "end": 41}], "disease": [{"text": "gastric cancer", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association of nodular disease in rheumatoid arthritis (RA) with smoking, seropositivity, and polymorphisms at HLA-DRB1 and TNF loci.", "output": {"entities": {"gene": [{"text": "TNF", "start": 143, "end": 146}], "disease": [{"text": "smoking", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "RelB, an NF-κB family member, suppresses cigarette smoke-induced inflammation but its expression in COPD is unknown.", "output": {"entities": {"gene": [{"text": "RelB", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In addition, a missense mutation in combination with a recurrent nonsense mutation in ENPP1 was discovered in a pediatric PXE case.", "output": {"entities": {"gene": [{"text": "ENPP1", "start": 86, "end": 91}], "disease": [{"text": "PXE", "start": 122, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ENPP1", "start": 86, "end": 91}, "tail": {"text": "PXE", "start": 122, "end": 125}}]}}, "schema": []}
{"input": "According to the odds ratio (OR) values, CDKN2A-associated cases seemed to have tumours more often located on the head and neck (adjOR 2. 9, 95% CI 0. 6-13. 7), with less inflammation (adjOR 0. 7, 95% CI 0. 3-1. 8) and regression (adjOR 0. 6, 95% CI 0. 2-1. 8) but more frequent histological ulceration (adjOR 1. 9, 95% CI 0. 6-5. 8).", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 41, "end": 47}], "disease": [{"text": "inflammation", "start": 171, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We have used flow cytometry and immunohistochemistry to examine the expression of the cellular markers for proliferation (interleukin-1, epidermal growth factor receptor, and transferrin receptor) and the markers of cellular differentiation (filaggrin and low-molecular-weight cytokeratin) in normal and human papillomavirus--infected human cervical tissues representing the natural range of human papillomavirus--induced disease.", "output": {"entities": {"gene": [{"text": "transferrin receptor", "start": 175, "end": 195}], "disease": [{"text": "weight", "start": 270, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Decreased mRNA expression of PGC-1α and PGC-1α-regulated factors in the SOD1G93A ALS mouse model and in human sporadic ALS.", "output": {"entities": {"gene": [{"text": "PGC-1α", "start": 29, "end": 35}], "disease": [{"text": "sporadic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "More broadly, our work deciphers critical cross-talk between pattern recognition receptors and implicates a role for Dectin-1 in suppression of sterile inflammation, inflammation-induced oncogenesis, and LPS-mediated sepsis.", "output": {"entities": {"gene": [{"text": "Dectin-1", "start": 117, "end": 125}], "disease": [{"text": "inflammation", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The ACE genotype is unrelated to endothelium-dependent dilation in the systemic arteries of clinically well adults.", "output": {"entities": {"gene": [{"text": "ACE", "start": 4, "end": 7}], "disease": [{"text": "dilation", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To test whether single nucleotide polymorphisms (SNPs) of the 4 vitamin D family genes (DHCR7, CYP2R1, CYP27B1, and CYP24A1) previously associated with several autoimmune diseases are associated with ocular Behçet disease, Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis (AAU) with ankylosing spondylitis, or pediatric uveitis in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "DHCR7", "start": 88, "end": 93}], "disease": [{"text": "uveitis", "start": 275, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.", "output": {"entities": {"gene": [{"text": "SAP102", "start": 326, "end": 332}], "disease": [{"text": "major depression", "start": 434, "end": 450}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAP102", "start": 326, "end": 332}, "tail": {"text": "major depression", "start": 434, "end": 450}}]}}, "schema": []}
{"input": "As the finding of pathogenic CDH1 mutations is useful for management of HDGC families, screening for deletions should be offered to at-risk families.", "output": {"entities": {"gene": [{"text": "CDH1", "start": 29, "end": 33}], "disease": [{"text": "HDGC", "start": 72, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CDH1", "start": 29, "end": 33}, "tail": {"text": "HDGC", "start": 72, "end": 76}}]}}, "schema": []}
{"input": "N-Terminal sequence analysis of the 25 kDa band demonstrated identity with PLP-C. A polyclonal antiserum to the fusion protein cross reacted with seven major proteins in rat placental culture media of which two were the native forms of PLP-C. Recombinant PLP-C was not mitogenic in the Nb2 lymphoma bioassay and did not exhibit high affinity binding to rat PRL receptor.", "output": {"entities": {"gene": [{"text": "PLP", "start": 75, "end": 78}], "disease": [{"text": "lymphoma", "start": 290, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "Thus, HIP1 may play a role in tumorigenesis by allowing the survival of precancerous or cancerous cells.", "output": {"entities": {"gene": [{"text": "HIP1", "start": 6, "end": 10}], "disease": [{"text": "tumorigenesis", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Seventy male infertile patients with high FHS levels (> 12 mIU/ml) were screened for mutations in each of the 10 exons of the FSH receptor gene, using genomic DNA PCR and a single-strand conformation polymorphism (SSCP) analysis.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 126, "end": 138}], "disease": [{"text": "infertile", "start": 13, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Finally, the SNP in the DGAT1 gene was associated with sirloin weight after maturation and fat depth surrounding the sirloin, with animals inheriting the AA genotype having heavier sirloins and more fat.", "output": {"entities": {"gene": [{"text": "DGAT1 gene", "start": 24, "end": 34}], "disease": [{"text": "weight", "start": 63, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the DAX-1 gene from seven patients in six kindreds with X-linked AHC and identified one frameshift mutation, two missense mutations, and three deletion mutations.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 16, "end": 21}], "disease": [{"text": "AHC", "start": 77, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 16, "end": 21}, "tail": {"text": "AHC", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "The isolated bilateral split foot malformation-associated chromosome 2 breakpoint was localized at 120. 9 Mb, between the two main candidate genes, encoding GLI-Kruppel family member GLI2 and inhibin-betaB.", "output": {"entities": {"gene": [{"text": "GLI", "start": 157, "end": 160}], "disease": [{"text": "split foot", "start": 23, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that MK plays a critical role in the tubulointerstitial inflammation associated with diabetic nephropathy through activation of the MCP-1 pathway.", "output": {"entities": {"gene": [{"text": "MK", "start": 23, "end": 25}], "disease": [{"text": "diabetic nephropathy", "start": 103, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MK", "start": 23, "end": 25}, "tail": {"text": "diabetic nephropathy", "start": 103, "end": 123}}]}}, "schema": []}
{"input": "An interventional study examining the effects on insulin resistance of altering SHBG concentrations may help in determining whether this association is causal.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 80, "end": 84}], "disease": [{"text": "insulin resistance", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Mice with the genetic deletion of GATA-6 in ECs (Gata6-KO) spontaneously develop elevated pulmonary artery pressure and increased vessel muscularization, and these features are further exacerbated in response to hypoxia.", "output": {"entities": {"gene": [{"text": "GATA", "start": 34, "end": 38}], "disease": [{"text": "elevated pulmonary artery pressure", "start": 81, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Using genetically engineered mice, we now show that disruption of the RP-Mdm2-p53 pathway by an Mdm2 (C305F) mutation does not accelerate prostatic tumorigenesis induced by inactivation of the pRb family proteins (pRb/p107/p130).", "output": {"entities": {"gene": [{"text": "p130", "start": 223, "end": 227}], "disease": [{"text": "tumorigenesis", "start": 148, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In vivo, PDE3A KO mice were protected against collagen/epinephrine-induced pulmonary thrombosis and death, while no such protection was observed in PDE3B KO mice.", "output": {"entities": {"gene": [{"text": "PDE3A", "start": 9, "end": 14}], "disease": [{"text": "thrombosis", "start": 85, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE3A", "start": 9, "end": 14}, "tail": {"text": "thrombosis", "start": 85, "end": 95}}]}}, "schema": []}
{"input": "Human renal carcinoma cells respond to Newcastle disease virus infection through activation of the p38 MAPK/NF-κB/IκBα pathway.", "output": {"entities": {"gene": [{"text": "IκBα", "start": 114, "end": 118}], "disease": [{"text": "renal carcinoma", "start": 6, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Sensitization of human renal cell carcinoma cells to cis-diamminedichloroplatinum (II) by anti-interleukin 6 monoclonal antibody or anti-interleukin 6 receptor monoclonal antibody.", "output": {"entities": {"gene": [{"text": "interleukin 6 receptor", "start": 137, "end": 159}], "disease": [{"text": "renal cell carcinoma", "start": 23, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin 6 receptor", "start": 137, "end": 159}, "tail": {"text": "renal cell carcinoma", "start": 23, "end": 43}}]}}, "schema": []}
{"input": "The gene delivery of TRX, which plays a central role in intracellular redox control, was shown to be effective in protecting the liver against oxidative stress-induced injury.", "output": {"entities": {"gene": [{"text": "TRX", "start": 21, "end": 24}], "disease": [{"text": "liver", "start": 11, "end": 16}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TRX", "start": 21, "end": 24}, "tail": {"text": "liver", "start": 11, "end": 16}}]}}, "schema": []}
{"input": "Genotyped and determined 5-HT (1A) binding potential (BP) by positron emission tomography (PET) using [carbonyl-C-11]-WAY-100635 in 28 medication-free MDD subjects during a current major depressive episode and 43 controls.", "output": {"entities": {"gene": [{"text": "5-HT (1A", "start": 25, "end": 33}], "disease": [{"text": "major depressive episode", "start": 181, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (1A", "start": 25, "end": 33}, "tail": {"text": "major depressive episode", "start": 181, "end": 205}}]}}, "schema": []}
{"input": "To examine the hypothesis that abnormal cell-cycle regulators act as the mutators contributing to genomic instability, the present study, based on primary tumor tissues from 71 patients with breast cancer, was performed to determine whether there was an association between aberrant expression of cell-cycle regulators (cyclin A, cyclin D1, cyclin E, RB1, p21, and p27) and chromosomal instability.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 341, "end": 349}], "disease": [{"text": "genomic instability", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "IGF2 gene variants have shown a strong association with weight, body mass index (BMI), and metabolic profile in adults.", "output": {"entities": {"gene": [{"text": "IGF2 gene", "start": 0, "end": 9}], "disease": [{"text": "body mass index", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Multivariate analysis with the Cox proportional-hazards model revealed the following independent risk factors for HCC: male gender [p < 0. 0001; risk ratio (RR), 3. 97], older age (p < 0. 05; RR, 2. 08), advanced fibrosis (p < 0. 0001; RR, 5. 75), absence of SVR (p < 0. 01; RR, 10. 0), high AST level (p < 0. 01; RR, 2. 08), high AST/ALT ratio (p < 0. 01; RR, 2. 21), and non-DW-type pattern (p < 0. 05; RR, 1. 96).", "output": {"entities": {"gene": [{"text": "HCC", "start": 114, "end": 117}], "disease": [{"text": "fibrosis", "start": 213, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "HET/SAF-B overexpression causes growth arrest and multinuclearity and is associated with aneuploidy in human breast cancer.", "output": {"entities": {"gene": [{"text": "HET", "start": 0, "end": 3}], "disease": [{"text": "aneuploidy", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The documentation of variants in ACTG2 and MYH11 thus points to the involvement of the contractile apparatus of the smooth muscle in MMIHS.", "output": {"entities": {"gene": [{"text": "MYH11", "start": 43, "end": 48}], "disease": [{"text": "MMIHS", "start": 133, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH11", "start": 43, "end": 48}, "tail": {"text": "MMIHS", "start": 133, "end": 138}}]}}, "schema": []}
{"input": "Finally, ABCR-mediated retinal degeneration may result from \" poisoning \" of the RPE due to A2-E accumulation, with secondary photoreceptor degeneration due to loss of the RPE support role.", "output": {"entities": {"gene": [{"text": "RPE", "start": 81, "end": 84}], "disease": [{"text": "secondary", "start": 116, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Kallistatin, but not kallistatin mutant at the heparin-binding domain, abrogated TNF-alpha-induced endothelial cell activation, as evidenced by inhibition of TNF receptor 1-associated death domain protein activation, inhibitor of nuclear factor kappaB-alpha degradation, nuclear factor kappaB translocation, and p38 mitogen-activated protein kinase phosphorylation, as well as cell adhesion molecule and cytokine expression.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 81, "end": 90}], "disease": [{"text": "translocation", "start": 293, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "CCL2 expression is overexpressed in luminal B breast cancer cells and is important for regulating cell growth and survival by inhibiting necrosis and autophagy.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 0, "end": 4}], "disease": [{"text": "necrosis", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "EDA", "start": 29, "end": 32}], "disease": [{"text": "anhidrotic ectodermal dysplasia", "start": 50, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA", "start": 29, "end": 32}, "tail": {"text": "anhidrotic ectodermal dysplasia", "start": 50, "end": 81}}]}}, "schema": []}
{"input": "Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 43, "end": 48}], "disease": [{"text": "pilocytic astrocytoma", "start": 52, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTRK2", "start": 43, "end": 48}, "tail": {"text": "pilocytic astrocytoma", "start": 52, "end": 73}}]}}, "schema": []}
{"input": "Mutation analysis of the MSMB gene in familial prostate cancer.", "output": {"entities": {"gene": [{"text": "MSMB", "start": 25, "end": 29}], "disease": [{"text": "familial prostate cancer", "start": 38, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSMB", "start": 25, "end": 29}, "tail": {"text": "familial prostate cancer", "start": 38, "end": 62}}]}}, "schema": []}
{"input": "These findings suggest that the signal transduction pathway via the PKA-p-CREB pathway in the limbic forebrain may be functionally related to the development of sensitization of EtOH-induced place preference and provide a possible molecular basis for the pharmacological effect of acamprosate to prevent or reduce the relapse of alcohol dependence.", "output": {"entities": {"gene": [{"text": "CREB", "start": 74, "end": 78}], "disease": [{"text": "alcohol dependence", "start": 329, "end": 347}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CREB", "start": 74, "end": 78}, "tail": {"text": "alcohol dependence", "start": 329, "end": 347}}]}}, "schema": []}
{"input": "The duos were composed of 2 relatives harboring the same heterozygous KCNQ1 or KCNH2 mutation: 1 with cardiac events and 1 asymptomatic and untreated.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 70, "end": 75}], "disease": [{"text": "asymptomatic", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In infected cells, poly (ADP-ribose) polymerase 1 (PARP-1), a DNA repair enzyme that also regulates HMGB1 translocation, was found to be cleaved into fragments that correspond to a necrosis like pattern of PARP-1 degradation.", "output": {"entities": {"gene": [{"text": "DNA repair enzyme", "start": 62, "end": 79}], "disease": [{"text": "translocation", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.", "output": {"entities": {"gene": [{"text": "FERMT1", "start": 31, "end": 37}], "disease": [{"text": "Kindler syndrome", "start": 0, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FERMT1", "start": 31, "end": 37}, "tail": {"text": "Kindler syndrome", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "Thus, PTX3 may represent a new marker of cancer-related inflammation and glioma malignancy.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 6, "end": 10}], "disease": [{"text": "inflammation", "start": 56, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The mucosa of these cases was negative for p53 immunoreactivity except for one case showing sporadic positivity.", "output": {"entities": {"gene": [{"text": "p53", "start": 43, "end": 46}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "However, ouabain had opposing effects on the stability of TNF-α mRNA: Ouabain triggered miR-181 transcription, which promoted TNF-α mRNA degradation and induced immunoparalysis, and ouabain triggered the nuclear export of human antigen R (HuR), which stabilized TNF-α mRNA and suppressed immuno-paralysis.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 58, "end": 63}], "disease": [{"text": "paralysis", "start": 167, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "IL13 C-1111T (rs1800925) was significantly associated with rhinitis and atopic phenotypes in rhinitis trios that were not affected by clinical asthma.", "output": {"entities": {"gene": [{"text": "IL13", "start": 0, "end": 4}], "disease": [{"text": "atopic", "start": 72, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "These unexpected findings suggest an interesting relationship between p53 mutation, mammary cell dedifferentiation, and the concomitant acquisition of stemlike properties (as indicated by the overexpression of PROM1 and NOTCH1 genes), which improve tumor cells aggressiveness as indicated by the overexpression of genes associated with cell proliferation (CDK4, CDK6, MKI67) and migration (CXCR4, MMP1).", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 220, "end": 226}], "disease": [{"text": "aggressiveness", "start": 261, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "Since VPA is a drug highly successfully used in long-term epilepsy therapy, our findings open the exciting perspective for a first causal therapy of an inherited disease by elevating the SMN2 transcription level and restoring its correct splicing.", "output": {"entities": {"gene": [{"text": "SMN2", "start": 187, "end": 191}], "disease": [{"text": "epilepsy", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 20, "end": 24}], "disease": [{"text": "Budd-Chiari Syndrome", "start": 60, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "JAK2", "start": 20, "end": 24}, "tail": {"text": "Budd-Chiari Syndrome", "start": 60, "end": 80}}]}}, "schema": []}
{"input": "DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.", "output": {"entities": {"gene": [{"text": "DVL1", "start": 0, "end": 4}], "disease": [{"text": "Robinow syndrome", "start": 86, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DVL1", "start": 0, "end": 4}, "tail": {"text": "Robinow syndrome", "start": 86, "end": 102}}]}}, "schema": []}
{"input": "In addition, loss of YAP results in Wnt hypersensitivity during regeneration, leading to hyperplasia, expansion of intestinal stem cells and niche cells, and formation of ectopic crypts and microadenomas.", "output": {"entities": {"gene": [{"text": "YAP", "start": 21, "end": 24}], "disease": [{"text": "hypersensitivity", "start": 40, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "FAF1 has been shown to play an important role in normal development and neuronal cell survival, whereas FAF1 downregulation may contribute to multiple aspects of tumorigenesis.", "output": {"entities": {"gene": [{"text": "FAF1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 162, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "PIK3CA, HRAS and KRAS gene mutations in human penile cancer.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 0, "end": 6}], "disease": [{"text": "penile cancer", "start": 46, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3CA", "start": 0, "end": 6}, "tail": {"text": "penile cancer", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.", "output": {"entities": {"gene": [{"text": "NF-L", "start": 34, "end": 38}], "disease": [{"text": "major depression", "start": 122, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF-L", "start": 34, "end": 38}, "tail": {"text": "major depression", "start": 122, "end": 138}}]}}, "schema": []}
{"input": "ECRG2 STR of highest incidence was TCA3/TCA3 [47 (51%) in pancreatic carcinoma; 59 (50%) in pancreatitis patients], followed by the TCA3/TCA4 [37 (40%); 54 (46%)] and TCA4/TCA4 [8 (9%); 4 (4%)] genotypes.", "output": {"entities": {"gene": [{"text": "TCA4", "start": 137, "end": 141}], "disease": [{"text": "pancreatitis", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We show that GRIM-1 isoforms interact with NAF1 and DKC1, two essential proteins required for box H/ACA sno/sca RNP biogenesis and suppresses box H/ACA RNA levels in mammalian cells by delocalizing NAF1.", "output": {"entities": {"gene": [{"text": "DKC1", "start": 52, "end": 56}], "disease": [{"text": "sca", "start": 108, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we demonstrated that intraperitoneal administration of clenbuterol, a lipophilic beta (2)-adrenoceptor agonist, caused an increase in TGF-beta1 expression in non-ischemic rats and further enhanced TGF-beta1 protein levels in rat CA1 pyramidal neurones after transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 251, "end": 254}], "disease": [{"text": "ischemia", "start": 300, "end": 308}]}, "relations": {}}, "schema": []}
{"input": "In phenylephrine-induced cardiac hypertrophy, ang1-256 reduced left ventricle (LV)/tibia ratios, fetal gene expressions (atrial and brain natriuretic peptides, skeletal actin, beta-myosin heavy chain), and fibrosis (collagen III), and increased LV prosurvival signaling (akt, MAPK (p42/44)), and AMPK (T172).", "output": {"entities": {"gene": [{"text": "p42", "start": 282, "end": 285}], "disease": [{"text": "fibrosis", "start": 206, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "We report four Tunisian ARSACS patients homozygous for a novel mutation in SACS exon 9 gene, c. 12846_12850delAGAG.", "output": {"entities": {"gene": [{"text": "SACS", "start": 26, "end": 30}], "disease": [{"text": "ARSACS", "start": 24, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SACS", "start": 26, "end": 30}, "tail": {"text": "ARSACS", "start": 24, "end": 30}}]}}, "schema": []}
{"input": "These results suggest that the oncogenic effect of the t (6; 22) translocation is due to the EWS-Oct-4 chimaeric protein and that fusion of the EWS NTD to the Oct-4 DNA-binding domain produces a transforming chimaeric product.", "output": {"entities": {"gene": [{"text": "EWS", "start": 93, "end": 96}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Aberrant methylation of the Pleckstrin and Sec7 domain-containing gene is implicated in ulcerative colitis-associated carcinogenesis through its inhibitory effect on apoptosis.", "output": {"entities": {"gene": [{"text": "Sec7", "start": 43, "end": 47}], "disease": [{"text": "carcinogenesis", "start": 118, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Further investigations revealed that knock-down of AGO2 by custom-made AGO2 siRNA in HEK-293 cells resulted in silencing of the expression of target genes vascular endothelial growth factor A and histone deacetylase 2, which are known to be involved in the development of myeloid leukaemia.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor A", "start": 155, "end": 191}], "disease": [{"text": "myeloid leukaemia", "start": 272, "end": 289}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vascular endothelial growth factor A", "start": 155, "end": 191}, "tail": {"text": "myeloid leukaemia", "start": 272, "end": 289}}]}}, "schema": []}
{"input": "However, despite these alpha-cell effects, high-fat feeding of IL-6 KO mice results in increased fed glycemia due to impaired insulin secretion, with unchanged insulin sensitivity and similar body weights.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 63, "end": 67}], "disease": [{"text": "insulin sensitivity", "start": 160, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In white CHS participants, the prespecified risk alleles of 7 of the 74 SNPs (in HPS1, ITGAE, ABCG2, MYH15, FSTL4, CALM1, and BAT2) were nominally associated with increased risk of stroke (one-sided P < 0. 05, false discovery rate = 0. 42).", "output": {"entities": {"gene": [{"text": "ITGAE", "start": 87, "end": 92}], "disease": [{"text": "stroke", "start": 181, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Following the improvement of cardiac function and ventricular remodeling, ICER and CREB mRNA in pre-and post-myocardial-infarction groups were down-regulated, and phosphodiesterase 3A and Bcl-2 mRNA were up-regulated (P & lt; 0. 05).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 188, "end": 193}], "disease": [{"text": "myocardial-infarction", "start": 109, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 188, "end": 193}, "tail": {"text": "myocardial-infarction", "start": 109, "end": 130}}]}}, "schema": []}
{"input": "Previously, we and others demonstrated that CD4 (+) FoxP3 (+) regulatory T cells (Tregs) infiltrate human GBM as well as mouse models that recapitulate malignant brain tumors.", "output": {"entities": {"gene": [{"text": "CD4", "start": 44, "end": 47}], "disease": [{"text": "brain tumors", "start": 162, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The cells carrying the translocation would retain only one functional copy of the wild-type TBL1XR1 gene while the other, rearranged allele could produce a putative truncated form of TBL1XR1 protein containing the LiSH and F-box-like domains.", "output": {"entities": {"gene": [{"text": "TBL1XR1", "start": 92, "end": 99}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Intrathecal IL-1ra reversed paclitaxel-induced allodynia and intrathecal IL-10 gene therapy both prevented, and progressively reversed, this allodynic state.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 73, "end": 78}], "disease": [{"text": "allodynia", "start": 47, "end": 56}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-10", "start": 73, "end": 78}, "tail": {"text": "allodynia", "start": 47, "end": 56}}]}}, "schema": []}
{"input": "Waist circumference (WC), waist to hip ratio (WHR), percentage of body fat (% BF), systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting plasma glucose (FPG), serum triglycerides (TG), total cholesterol (TC), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), plasma fasting insulin (FINS), homeostasis model assessment for insulin resistance (HOMA-IR), and plasma leptin were examined.", "output": {"entities": {"gene": [{"text": "DBP", "start": 140, "end": 143}], "disease": [{"text": "systolic blood pressure", "start": 83, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Alteration of purinergic P2X4 and P2X7 receptor expression in rats with temporal-lobe epilepsy induced by pilocarpine.", "output": {"entities": {"gene": [{"text": "P2X4", "start": 25, "end": 29}], "disease": [{"text": "temporal-lobe epilepsy", "start": 72, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P2X4", "start": 25, "end": 29}, "tail": {"text": "temporal-lobe epilepsy", "start": 72, "end": 94}}]}}, "schema": []}
{"input": "We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 115, "end": 119}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive.", "output": {"entities": {"gene": [{"text": "ABL1", "start": 15, "end": 19}], "disease": [{"text": "failure to thrive", "start": 159, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABL1", "start": 15, "end": 19}, "tail": {"text": "failure to thrive", "start": 159, "end": 176}}]}}, "schema": []}
{"input": "A t (2; 19) (p13; p13. 2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis.", "output": {"entities": {"gene": [{"text": "p13", "start": 13, "end": 16}], "disease": [{"text": "lipomatosis", "start": 90, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that chronic fenfluramine exposure potentiates the pulmonary vasoconstrictor response to ET-1, and suggests that elevated levels of serotonin may & lt; prime & gt; the pulmonary circulation to become hyperreactive to other vasoactive substances possibly leading to the development of disease states such as primary pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "ET-1", "start": 112, "end": 116}], "disease": [{"text": "pulmonary hypertension", "start": 338, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ET-1", "start": 112, "end": 116}, "tail": {"text": "pulmonary hypertension", "start": 338, "end": 360}}]}}, "schema": []}
{"input": "Three-color automated flow cytometry was carried out on peripheral blood CD4 + and CD8 + T-lymphocytes of 42 HIV-positive patients using tri-color anti-CD4 or anti-CD8, phycoerythrin-anti-CD38, and fluorescein-anti-HLA-DR, mAbs to elucidate further the T-cell activation hypothesis recently proposed to explain CD4 + T-cell abnormalities observed during HIV infection.", "output": {"entities": {"gene": [{"text": "CD38", "start": 188, "end": 192}], "disease": [{"text": "abnormalities", "start": 324, "end": 337}]}, "relations": {}}, "schema": []}
{"input": "Longitudinal epigenetic variation of DNA methyltransferase genes is associated with vulnerability to post-traumatic stress disorder.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase", "start": 37, "end": 58}], "disease": [{"text": "stress disorder", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Genetic manipulation of LPL may be beneficial in the treatment of hypertriglyceridemias, but it is unknown whether increased LPL activity may be effective in lowering plasma cholesterol and improving insulin resistance in familial hypercholesterolemic patients.", "output": {"entities": {"gene": [{"text": "LPL", "start": 24, "end": 27}], "disease": [{"text": "insulin resistance", "start": 200, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 8, "end": 12}], "disease": [{"text": "mild", "start": 45, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "African American, Caucasian, Chinese, and Japanese women in SWAN enrolled in the Sex Steroid Hormone Genetics Protocol from whom fasting glucose and insulin measures (for estimating insulin sensitivity), diabetes status, and metabolic syndrome classification were obtained.", "output": {"entities": {"gene": [{"text": "SWAN", "start": 60, "end": 64}], "disease": [{"text": "metabolic syndrome", "start": 225, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Since most neoplasms are considered to develop as a result of the combination of several gene mutations, these findings suggest that GISTs from NF1 patients might have somatic c-kit gene mutations and that sporadic GISTs from non-NF1 patients might have somatic NF1 gene mutations.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 262, "end": 270}], "disease": [{"text": "sporadic", "start": 206, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the expression levels of PSGL-1 on CD14 + + CD16 + monocytes were significantly higher in patients with plaque rupture or intracoronary thrombus assessed by FD-OCT. Up-regulation of PSGL-1 on CD14 + + CD16 + monocytes may be a crucial role in plaque rupture and thrombus formation.", "output": {"entities": {"gene": [{"text": "PSGL-1", "start": 35, "end": 41}], "disease": [{"text": "plaque", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Specifically, we have shown that diabetic individuals with Hp2-2 are more likely to develop nephropathy, retinopathy, and cardiovascular disease as compared with those with Hp2-1 or Hp1-1.", "output": {"entities": {"gene": [{"text": "Hp1", "start": 182, "end": 185}], "disease": [{"text": "retinopathy", "start": 105, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The p53 mutational spectrum of germ-line BRCA1-related cancers was shifted toward transversions, frameshifts, and non-CpG transitions relative to the spectrum of sporadic ovarian cancers.", "output": {"entities": {"gene": [{"text": "p53", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Taken together with the present endolymphatic sac tumor (ELST) study, it is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops.", "output": {"entities": {"gene": [{"text": "V2R", "start": 103, "end": 106}], "disease": [{"text": "endolymphatic hydrops", "start": 198, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Physiological and pathological roles of a multi-ligand receptor CD36 in atherogenesis; insights from CD36-deficient patients.", "output": {"entities": {"gene": [{"text": "CD36", "start": 64, "end": 68}], "disease": [{"text": "atherogenesis", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain.", "output": {"entities": {"gene": [{"text": "SH2D1A", "start": 27, "end": 33}], "disease": [{"text": "XLP", "start": 54, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH2D1A", "start": 27, "end": 33}, "tail": {"text": "XLP", "start": 54, "end": 57}}]}}, "schema": []}
{"input": "Increased frequencies of HLA-A30 (16. 7 vs. 3. 8%; P < 0. 01; OR = 5. 05), A31 (9. 5 vs. 1. 9%; P < 0. 05; OR = 5. 72), B18 (31. 7 vs. 14. 3%; P < 0. 05; OR = 2. 78) and Cw7 (53. 3 vs. 21. 9%; P < 0. 01; OR = 4. 07) were observed in patients with pancreatic cancer in comparison to the control subjects.", "output": {"entities": {"gene": [{"text": "B18", "start": 120, "end": 123}], "disease": [{"text": "pancreatic cancer", "start": 247, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated roles for transcriptional and nontranscriptional functions of CDX2 in suppression of colonic tumorigenesis.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 93, "end": 97}], "disease": [{"text": "tumorigenesis", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Using the stepwise Cox regression analysis, we found that the polymorphisms in ERCC1 and XRCC1, tumor stage and chemotherapy or radiotherapy status independently predicted overall survival of non-smoking female patients with lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 89, "end": 94}], "disease": [{"text": "smoking", "start": 196, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Additional data suggest epigenetic molecular mechanisms in tumor specific regulation of LOXL2 expression that could be explored as a molecular target in the prevention of breast cancer progression.", "output": {"entities": {"gene": [{"text": "LOXL2", "start": 88, "end": 93}], "disease": [{"text": "breast cancer", "start": 171, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL2", "start": 88, "end": 93}, "tail": {"text": "breast cancer", "start": 171, "end": 184}}]}}, "schema": []}
{"input": "Whether lamin A plays any role in normal aging is unknown.", "output": {"entities": {"gene": [{"text": "lamin A", "start": 8, "end": 15}], "disease": [{"text": "aging", "start": 41, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p & lt; 2 & #160; & #215; & #160; 10 (-5)) in the meta-analysis.", "output": {"entities": {"gene": [{"text": "ALK", "start": 13, "end": 16}], "disease": [{"text": "alcohol dependence", "start": 66, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALK", "start": 13, "end": 16}, "tail": {"text": "alcohol dependence", "start": 66, "end": 84}}]}}, "schema": []}
{"input": "In MPTP monkeys with LID, striatal RGS9-2 overexpression--achieved by viral vector injection into the striatum--diminishes the involuntary movement intensity without lessening the anti-parkinsonian effects of the D1/D2 receptor agonist L-dopa.", "output": {"entities": {"gene": [{"text": "RGS9", "start": 35, "end": 39}], "disease": [{"text": "involuntary movement", "start": 127, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our report adds further evidence for the involvement of the nebulin gene in the etiology of fetal akinesia deformation sequence/lethal multiple pterygium syndrome.", "output": {"entities": {"gene": [{"text": "nebulin", "start": 75, "end": 82}], "disease": [{"text": "lethal multiple pterygium syndrome", "start": 143, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nebulin", "start": 75, "end": 82}, "tail": {"text": "lethal multiple pterygium syndrome", "start": 143, "end": 177}}]}}, "schema": []}
{"input": "Decreasing membranous catenin expression in tandem with increasing levels of TWIST across the spectrum of lobular lesions suggests that CCC dissociation is a progressive process.", "output": {"entities": {"gene": [{"text": "TWIST", "start": 77, "end": 82}], "disease": [{"text": "dissociation", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "IL-17A, IL-21, IL-22, TNF-α and IL-6 are also produced in excess in the early colonic lesions in a mouse model of sporadic CRC, associated with enhanced STAT3/NF-kB activation.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 22, "end": 27}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In this report, we found a novel missense mutation in the HNF-1 beta gene in a patient with neonatal cholestasis and liver dysfunction together with the common features of MODY5.", "output": {"entities": {"gene": [{"text": "HNF-1 beta", "start": 58, "end": 68}], "disease": [{"text": "MODY5", "start": 172, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HNF-1 beta", "start": 58, "end": 68}, "tail": {"text": "MODY5", "start": 172, "end": 177}}]}}, "schema": []}
{"input": "For children with EAD, the genotype frequency of the-426C--> T SNP was no different between the groups with mild, moderate and severe SCORAD (P = NS).", "output": {"entities": {"gene": [{"text": "EAD", "start": 18, "end": 21}], "disease": [{"text": "mild", "start": 108, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome.", "output": {"entities": {"gene": [{"text": "HoxA11", "start": 42, "end": 48}], "disease": [{"text": "absent radius", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) and tetrahydrobiopterin deficiency (BH4D), according to the defect of enzyme activity, both of which vary substantially in severity, treatment, and prognosis of the disease.", "output": {"entities": {"gene": [{"text": "HPA", "start": 23, "end": 26}], "disease": [{"text": "tetrahydrobiopterin deficiency", "start": 77, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In the non-neoplastic dendritic melanocytes, PCNA is retained in the cytoplasm, resulting in the arrest of the cells in the S/G2-phase for prolonged periods, as indicated by the length and complexity of the dendritic processes.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 45, "end": 49}], "disease": [{"text": "non-neoplastic", "start": 7, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The gene expression of the Th1 cytokines IL-12p35, IL-12p40 and IFN-γ and their related transcription factors STAT4, SOCS5 and T-bet, the Th2 cytokines IL-4 and IL-13 and transcription factors STAT6, SOCS3 and GATA-3 and the regulatory cytokines IL-10 and TGF-β and the transcription factor FOXP3 was evaluated in healthy control and atopic dogs.", "output": {"entities": {"gene": [{"text": "Th1", "start": 27, "end": 30}], "disease": [{"text": "atopic", "start": 334, "end": 340}]}, "relations": {}}, "schema": []}
{"input": "In multivariate analysis, AURKA was associated with cyclin D1 expression (P =. 010) and inversely with PIK3CA mutation (P =. 014), fatty acid synthase expression (P =. 028), and family history of colorectal cancer (P =. 050), but not with sex, age, body mass index, tumor location, stage, CIMP, MSI, KRAS, BRAF, BMI, LINE-1 hypomethylation, p53, p21, beta-catenin, or cyclooxygenase 2.", "output": {"entities": {"gene": [{"text": "p53", "start": 341, "end": 344}], "disease": [{"text": "body mass index", "start": 249, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.", "output": {"entities": {"gene": [{"text": "APOE", "start": 30, "end": 34}], "disease": [{"text": "autosomal dominant hypercholesterolemia", "start": 60, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APOE", "start": 30, "end": 34}, "tail": {"text": "autosomal dominant hypercholesterolemia", "start": 60, "end": 99}}]}}, "schema": []}
{"input": "HLA-B27/human β2-microglobulin-transgenic (B27-transgenic) rats, a model of spondylarthritis (SpA), develop spontaneous colitis and arthritis under conventional conditions.", "output": {"entities": {"gene": [{"text": "B27", "start": 4, "end": 7}], "disease": [{"text": "colitis", "start": 120, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these findings demonstrate that TOPK upregulates iNOS gene expression in T cell leukemia Jurkat cells or macrophage leukemic Raw 264. 7 cells via NF-κB activation in response to LPS, and might act as a critical effector in LPS/TLR4-mediated signaling cascade, suggesting a possible role of TOPK in inflammatory response or inflammation-related diseases.", "output": {"entities": {"gene": [{"text": "TOPK", "start": 46, "end": 50}], "disease": [{"text": "inflammation", "start": 337, "end": 349}]}, "relations": {}}, "schema": []}
{"input": "CSS has 2 major clinical subsets, antineutrophil cytoplasmic antibody (ANCA)-positive, with features of small-vessel vasculitis, and ANCA-negative, in which organ damage is mainly mediated by tissue eosinophilic infiltration; analysis of HLA-DRB4 in patients categorized by different numbers of vasculitic manifestations (purpura, alveolar hemorrhage, mononeuritis multiplex, rapidly progressive glomerulonephritis, and constitutional symptoms) showed that its frequency strongly correlated with the number of vasculitis symptoms (P for trend = 0. 001).", "output": {"entities": {"gene": [{"text": "HLA-DRB4", "start": 238, "end": 246}], "disease": [{"text": "hemorrhage", "start": 340, "end": 350}]}, "relations": {}}, "schema": []}
{"input": "We tested the hypothesis of association of CHOP 5' UTR-c. 279T > C and + nt30C > T genotypes and haplotypes with tumors/cancer and, separately, with overweight condition.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 43, "end": 47}], "disease": [{"text": "overweight", "start": 149, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "TAC1 promoter hypermethylation is a common event in both major histologic types of human esophageal carcinoma, occurs early, correlates with other progression risk factors in esophageal adenocarcinogenesis, and is a tissue biomarker of a poor prognosis in ESCC.", "output": {"entities": {"gene": [{"text": "TAC1", "start": 0, "end": 4}], "disease": [{"text": "esophageal", "start": 89, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The high incidence of gliomas in Li-Fraumeni families and the high frequency of somatic p53 mutations in sporadic glial tumors have raised the possibility that germline p53 mutations could play an important role in familial aggregation of gliomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 88, "end": 91}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We examined the association of three resistin polymorphisms,-852A > G,-420C > G and + 157C > T, and related haplotypes with plasma resistin, cytokines, C-reactive protein (CRP), adipokines, plasma lipoproteins, metabolic syndrome and coronary artery calcification (CAC) in nondiabetic Caucasians (n = 851).", "output": {"entities": {"gene": [{"text": "CRP", "start": 172, "end": 175}], "disease": [{"text": "coronary artery calcification", "start": 234, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated rifampin pharmacokinetics in relation to tuberculosis, geographic region, race, and single nucleotide polymorphisms of the human transporter genes SLCO1B1, SLCO1B3, and MDR1.", "output": {"entities": {"gene": [{"text": "SLCO1B3", "start": 184, "end": 191}], "disease": [{"text": "tuberculosis", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Using an online SAGE database (http://www. ncbi. nlm. gov/SAGE), we found the tag for mesothelin to be consistently present in the mesothelioma, ovarian cancer, and pancreatic cancer libraries but not in normal pancreas libraries.", "output": {"entities": {"gene": [{"text": "mesothelin", "start": 86, "end": 96}], "disease": [{"text": "ovarian cancer", "start": 145, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mesothelin", "start": 86, "end": 96}, "tail": {"text": "ovarian cancer", "start": 145, "end": 159}}]}}, "schema": []}
{"input": "Our data further corroborate the previous finding that altered PRKAR1A function, not only haploinsufficiency, is enough to elevate PKA activity which is apparently associated with tumorigenesis in tissues affected by CNC.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 63, "end": 70}], "disease": [{"text": "tumorigenesis", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "This translocation generated an in-frame chimeric gene consisting of the N-terminal portion of AML1, retaining the Runt domain, fused to the entire length of TRPS1 on the C-terminus.", "output": {"entities": {"gene": [{"text": "TRPS1", "start": 158, "end": 163}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Specifically, 11 sporadic tumors (26%) displayed a loss of one allele of the NF1 gene, which significantly correlated with a reduced NF1 mRNA expression.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 77, "end": 85}], "disease": [{"text": "sporadic", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Treatment of gerbils with either α-difluoromethylornithine, an inhibitor of ODC, or MDL 72527 (N (1), N (4)-Di (buta-2, 3-dien-1-yl) butane-1, 4-diamine dihydrochloride), an inhibitor of SMOX, reduced gastric dysplasia and carcinoma, as well as apoptosis-resistant cells with DNA damage.", "output": {"entities": {"gene": [{"text": "ODC", "start": 76, "end": 79}], "disease": [{"text": "carcinoma", "start": 223, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "While up to 20% of women under 50 years of age with TNBC harbor germline mutations in BRCA1, and these tumors are sensitive to treatment with poly (ADP) ribose polymerase inhibitors, a majority of TNBCs lack BRCA1 mutations or loss of expression.", "output": {"entities": {"gene": [{"text": "ADP", "start": 148, "end": 151}], "disease": [{"text": "tumors", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, formation of CK8 and CK18 complexes due to CK8 phosphorylation at Ser73 and Ser431 was found to be strongly associated with promotion of hepatocarcinogenesis by PB and the development of hepatocellular carcinomas.", "output": {"entities": {"gene": [{"text": "CK18", "start": 34, "end": 38}], "disease": [{"text": "hepatocarcinogenesis", "start": 150, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The National Cancer Institute established the Cancer Genetics Network (CGN) to support collaborative investigations into the genetic basis of cancer susceptibility, explore mechanisms to integrate this new knowledge into medical practice, and identify ways of addressing the associated psychosocial, ethical, legal, and public health issues.", "output": {"entities": {"gene": [{"text": "CGN", "start": 71, "end": 74}], "disease": [{"text": "cancer", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We have identified the histone H3 lysine 9 mono-and di-methyl demethylase enzyme KDM3A as a positive regulator of ER activity.", "output": {"entities": {"gene": [{"text": "KDM3A", "start": 81, "end": 86}], "disease": [{"text": "mono", "start": 43, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Of 35 HIS (NEG)/PCR (POS) patients (25. 2%), five also had nodal capsular nevi.", "output": {"entities": {"gene": [{"text": "HIS", "start": 6, "end": 9}], "disease": [{"text": "nevi", "start": 74, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In wild-type mice, activation of PKRs by the PKR agonist Bv8 caused hyperalgesia and sensitized to the actions of capsaicin. pkr1-null mice exhibited impaired responses to Bv8 but showed normal hyperalgesic responses to bradykinin and PGE2 (prostaglandin E2).", "output": {"entities": {"gene": [{"text": "pkr1", "start": 125, "end": 129}], "disease": [{"text": "hyperalgesia", "start": 68, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pkr1", "start": 125, "end": 129}, "tail": {"text": "hyperalgesia", "start": 68, "end": 80}}]}}, "schema": []}
{"input": "In a continuing analysis of translocations in 21 MM lines, we show that the novel, karyotypically silent t (14; 16) (q32. 3; q23) translocation is present in 5 MM lines, with cloned breakpoints from 4 lines dispersed over an approximately 500-kb region centromeric to the c-maf proto-oncogene at 16q23.", "output": {"entities": {"gene": [{"text": "c-maf", "start": 272, "end": 277}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.", "output": {"entities": {"gene": [{"text": "LOXL4", "start": 38, "end": 43}], "disease": [{"text": "bladder cancer", "start": 61, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL4", "start": 38, "end": 43}, "tail": {"text": "bladder cancer", "start": 61, "end": 75}}]}}, "schema": []}
{"input": "HER-2/neu overexpression (independent of smoking) may be involved in the development/progression of lung cancer in patients with CLL, and has an associated worse outcome.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 0, "end": 9}], "disease": [{"text": "smoking", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We report that exposure of breast cancer cells to hypoxia stimulated hypoxia-inducible factor (HIF)-1α-and HIF-2α-dependent expression of AlkB homolog 5 (ALKBH5), an m (6) A demethylase, which demethylated NANOG mRNA, which encodes a pluripotency factor, at an m (6) A residue in the 3'-UTR.", "output": {"entities": {"gene": [{"text": "AlkB", "start": 138, "end": 142}], "disease": [{"text": "breast cancer", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 0, "end": 4}], "disease": [{"text": "CS", "start": 109, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 0, "end": 4}, "tail": {"text": "CS", "start": 109, "end": 111}}]}}, "schema": []}
{"input": "CFTR suppresses tumor progression through miR-193b targeting urokinase plasminogen activator (uPA) in prostate cancer.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 0, "end": 4}], "disease": [{"text": "tumor progression", "start": 16, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Compared to gastric cancer case, the Gab1 did not influence the step of atrophy/metaplasia-gastric cancer sequence.", "output": {"entities": {"gene": [{"text": "Gab1", "start": 37, "end": 41}], "disease": [{"text": "metaplasia", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The translocation leads to the juxtaposition of BCL3 to the immunoglobulin heavy chain gene locus, resulting in high-level expression of the BCL3 transcript.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 48, "end": 52}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "It remains to be clarified what part both forms of ICAM-1 play in the course of colonic cancer, ulcerative colitis, and Crohn' s disease.", "output": {"entities": {"gene": [{"text": "ICAM-1", "start": 51, "end": 57}], "disease": [{"text": "colonic cancer", "start": 80, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ICAM-1", "start": 51, "end": 57}, "tail": {"text": "colonic cancer", "start": 80, "end": 94}}]}}, "schema": []}
{"input": "Two polymorphisms in the apo A-IV gene and familial combined hyperlipidemia.", "output": {"entities": {"gene": [{"text": "IV gene", "start": 31, "end": 38}], "disease": [{"text": "familial combined hyperlipidemia", "start": 43, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that LSF may provide therapeutic benefit for prevention or treatment of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "LSF", "start": 27, "end": 30}], "disease": [{"text": "diabetic nephropathy", "start": 94, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Significant interactions were observed between smoking status and SULT1A1-638 (P = 0. 02), NAT2-857 (P = 0. 01), and CYP1B1-4390 (P = 0. 04) variants and between smoking duration and NAT1-1088 (P = 0. 02), SULT1A1-638 (P = 0. 04), and NAT1-acetylator (P = 0. 03) status.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 91, "end": 95}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "These presymptomatic changes in hippocampal physiology in FAD suggest that hippocampal fMRI patterns during associative encoding may also provide a preclinical biomarker in sporadic AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 58, "end": 61}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of the NF1 gene in tumor DNA identified the presence of an inactivating NF1 somatic mutation in 41% (25/61) of analyzed sporadic tumors, associated with loss of the wild-type allele in 84% (21/25) of cases.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 25, "end": 33}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Pulmonary fibrosis was associated with HLA-B * 62 and HLA-Cw * 0602, whereas pulmonary hypertension was associated with HLA-B * 13 and HLA-B * 65.", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 39, "end": 44}], "disease": [{"text": "pulmonary hypertension", "start": 77, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In the current study, we for the first time investigated by immunohistochemistry and fluorescence in situ hybridization (FISH) the prevalence of cyclin D3 abnormalities in follicular lymphomas (FLs), comparing the results with traditional clinicopathologic characteristics, p27 and skp2 immunoreactivity (IR) and Ki-67 labeling index (LI).", "output": {"entities": {"gene": [{"text": "skp2", "start": 282, "end": 286}], "disease": [{"text": "abnormalities", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Fifty-two of 55 Chinese subjects with deafness accompanied by enlargement of the vestibular aqueduct (EVA) exhibited at least one mutant SLC26A4 allele, whereas SLC26A4 mutations were found in only 2 of 116 deaf Chinese patients without EVA.", "output": {"entities": {"gene": [{"text": "EVA", "start": 102, "end": 105}], "disease": [{"text": "deafness", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Ten fusion genes were detected in 115 cases of leukemia, including AML1/ETO, PML/RAR alpha, PLZF/RAR alpha, dupMLL, MLL/AF6, MLL/AF10, CBFbeta/MYH11, BCR/ABL, Hox11, and EVI1 BCR/ABL was positive in all the 52 cases of chronic myeloid leukemia; PML/RAR alpha was found in 21 of 25 acute promyelocytic leukemia (APL), and PLZF/RAR alpha was detected in one case of APL.", "output": {"entities": {"gene": [{"text": "Hox11", "start": 159, "end": 164}], "disease": [{"text": "chronic myeloid leukemia", "start": 219, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "For the functional characterization of CRIP1, its endogenous expression was transiently downregulated in T47D and BT474 breast cancer cells and the effects analyzed by immunoblotting, WST-1 proliferation assay and invasion assay.", "output": {"entities": {"gene": [{"text": "CRIP1", "start": 39, "end": 44}], "disease": [{"text": "breast cancer", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We describe a pedigree in which 3 members in the same generation are affected by Rolandic epilepsy (RE), paroxysmal exercise-induced dystonia (PED), and writer' s cramp (WC).", "output": {"entities": {"gene": [{"text": "PED", "start": 143, "end": 146}], "disease": [{"text": "writer' s cramp", "start": 153, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcriptase polymerase chain reaction analysis of the PDZRN3, CNTN3, STXBP5, PVRL3, HSPB8, and CCDC60 genes revealed slight variation in the copy number of transcripts, but without correlation to the chromosomal rearrangements in translocation-associated and sporadic conventional RCCs.", "output": {"entities": {"gene": [{"text": "PDZRN3", "start": 64, "end": 70}], "disease": [{"text": "translocation", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "The closely related Th2 cytokines, IL-4 and IL-13, share many biological functions that are considered important in the development of allergic airway inflammation and airway hyperresponsiveness (AHR).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 35, "end": 39}], "disease": [{"text": "inflammation", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The cytokine IL-4 is highly involved in T (H) 2 inflammation, such as that seen in allergic rhinitis.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 13, "end": 17}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "BRCA2 tumors present a phenotype opposite to BRCA1 tumors but very similar to sporadic tumors, except that BRCA2 overexpress some DNA repair markers such as CHEK2, show high cytoplasmic expression of RAD51, and are negative for HER-2 amplification and expression.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 157, "end": 162}], "disease": [{"text": "sporadic", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha gene polymorphisms in position-238 and-308 were identified using a modified polymerase chain reaction-restriction fragment length polymorphism method in 53 patients with pemphigus (38 with pemphigus vulgaris, 15 with pemphigus foliaceus) and 87 healthy controls.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 4, "end": 14}], "disease": [{"text": "pemphigus foliaceus", "start": 227, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "When transplanted into nude mice, ovarian cancer cells that overexpressed DAXX displayed enhanced tumorigenesis capability in vivo, whereas Daxx depletion inhibited tumor development.", "output": {"entities": {"gene": [{"text": "DAXX", "start": 74, "end": 78}], "disease": [{"text": "tumorigenesis", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD.", "output": {"entities": {"gene": [{"text": "UMOD", "start": 83, "end": 87}], "disease": [{"text": "FJHN", "start": 125, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UMOD", "start": 83, "end": 87}, "tail": {"text": "FJHN", "start": 125, "end": 129}}]}}, "schema": []}
{"input": "Because an airway-like inflammation has been reported in the gut of asthmatic patients, we sought to examine the expression of immunoregulatory cytokines like IL-4, IL-10, and IL-13 by gut mucosa.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 159, "end": 163}], "disease": [{"text": "inflammation", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Mutations of hCAP-C and hCAP-E were investigated in 24 leukemia-lymphoma cell lines including eight PAL cell lines, and their influences in chromosome morphology were evaluated.", "output": {"entities": {"gene": [{"text": "PAL", "start": 100, "end": 103}], "disease": [{"text": "lymphoma", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data indicate that Paneth cell hyperplasia and expression of their various antimicrobial products contribute to the immune response driven by TH2 cytokines, such as IL-9 and IL-13 in the intestinal mucosa.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 194, "end": 199}], "disease": [{"text": "hyperplasia", "start": 51, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-13", "start": 194, "end": 199}, "tail": {"text": "hyperplasia", "start": 51, "end": 62}}]}}, "schema": []}
{"input": "To elucidate the spectrum of the G6PC gene mutations, 13 unrelated Korean patients with GSD Ia were analyzed.", "output": {"entities": {"gene": [{"text": "G6PC", "start": 33, "end": 37}], "disease": [{"text": "GSD Ia", "start": 88, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "G6PC", "start": 33, "end": 37}, "tail": {"text": "GSD Ia", "start": 88, "end": 94}}]}}, "schema": []}
{"input": "Furthermore, mice bearing melanoma tumors with knockdown of IFN-γ receptor 1 (IFNGR1) have impaired tumor rejection upon anti-CTLA-4 therapy.", "output": {"entities": {"gene": [{"text": "IFNGR1", "start": 78, "end": 84}], "disease": [{"text": "melanoma", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We found more frequent expression of CHEK2 in BRCA1 and BRCA2 tumors than in non-BRCA1/2 and sporadic tumors.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 37, "end": 42}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Given the considerable evidence that anxiety and depression are closely linked with abnormalities in sleep, the data presented here provide further evidence that neurotensin and Ntsr1 may be a component of a pathway involved in both sleep and mood disorders.", "output": {"entities": {"gene": [{"text": "neurotensin", "start": 162, "end": 173}], "disease": [{"text": "depression", "start": 49, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurotensin", "start": 162, "end": 173}, "tail": {"text": "depression", "start": 49, "end": 59}}]}}, "schema": []}
{"input": "Rates of gastrointestinal disorders, jaundice, dry skin, and photosensitivity were increased at 240 mg BID compared with the 240 mg QD dose.", "output": {"entities": {"gene": [{"text": "BID", "start": 103, "end": 106}], "disease": [{"text": "jaundice", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "KCTD11 (REN) is a tumor suppressor gene mapping on human chromosome 17p13. 2, whose expression is frequently lost in human medulloblastoma and in several other cancer types.", "output": {"entities": {"gene": [{"text": "REN", "start": 8, "end": 11}], "disease": [{"text": "cancer", "start": 160, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "For the first time, our results demonstrate that the JAK2-STAT3 pathway regulated by miR-375 is involved in H. pylori-induced inflammation; this pathway promotes neoplastic transformation by affecting the expression of BCL-2 and TWIST1, hence offering a potential therapeutic target for inflammation-related cancers, especially those related to H. pylori.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 53, "end": 57}], "disease": [{"text": "neoplastic transformation", "start": 162, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Arsenic trioxide can inhibit LMP1 expression and dictate apoptosis and alterations of cell cycle distribution as well as growth retardation.", "output": {"entities": {"gene": [{"text": "LMP1", "start": 29, "end": 33}], "disease": [{"text": "growth retardation", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Interleukin-10 (IL-10), a potent anti-inflammatory cytokine, has been demonstrated to suppress joint swelling and deformation in RA animal model.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 16, "end": 21}], "disease": [{"text": "joint swelling", "start": 95, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "C-myc oncogenes caused the down-regulation of lymphocyte function-associated antigen-1 (LFA-1) adhesion molecules (alpha L/beta 2 integrin) and loss of homotypic B cell adhesion in vitro.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 88, "end": 93}], "disease": [{"text": "adhesion", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We have examined the expression of five VEGF receptors (VEGR1/Flt-1, VEGFR2/KDR, Flt-4, neuropilin-1 = NRP-1, NRP-2) in leukemic cells obtained from patients with acute myeloid leukemia (n = 28), chronic myeloid leukemia (n = 14), chronic eosinophilic leukemia (n = 3), chronic myelomonocytic leukemia (n = 9), or mast cell leukemia/systemic mastocytosis (n = 3) as well as in respective cell lines.", "output": {"entities": {"gene": [{"text": "NRP", "start": 103, "end": 106}], "disease": [{"text": "chronic eosinophilic leukemia", "start": 231, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "We describe here a novel CSID phenotype, in which pro-SI undergoes an unusual intracellular cleavage that eliminates its transmembrane domain.", "output": {"entities": {"gene": [{"text": "SI", "start": 26, "end": 28}], "disease": [{"text": "CSID", "start": 25, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SI", "start": 26, "end": 28}, "tail": {"text": "CSID", "start": 25, "end": 29}}]}}, "schema": []}
{"input": "Down-regulation of the histamine H1 receptor in the frontal cortex may be involved in the pathophysiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "histamine H1 receptor", "start": 23, "end": 44}], "disease": [{"text": "schizophrenia", "start": 109, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "histamine H1 receptor", "start": 23, "end": 44}, "tail": {"text": "schizophrenia", "start": 109, "end": 122}}]}}, "schema": []}
{"input": "These results suggest that specific astrocytic deficits in GFAP expression in corticolimbic circuits may be a general correlate of depressive-like behavior in animal models in addition to human major depression.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 59, "end": 63}], "disease": [{"text": "major depression", "start": 194, "end": 210}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GFAP", "start": 59, "end": 63}, "tail": {"text": "major depression", "start": 194, "end": 210}}]}}, "schema": []}
{"input": "Mutations in three other genes, PLA2G6 (PARK14), FBXO7 (PARK15), and Spatacsin (SPG11) also produce clinical similar phenotypes in that they presented with rapidly progressive parkinsonism, initially responsive to Levodopa treatment but later, developed additional features including cognitive decline and loss of Levodopa responsiveness.", "output": {"entities": {"gene": [{"text": "PARK15", "start": 56, "end": 62}], "disease": [{"text": "rapidly progressive", "start": 156, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Administration of rhBNP improved hemodynamics and ventricular remodeling and reduced myocardial fibrosis, possibly by downregulating CYP11B2 transcription and reducing myocardial aldosterone synthesis.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 133, "end": 140}], "disease": [{"text": "myocardial fibrosis", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The GD-1-12 CAV caused high mortality, severe anemia, thymic atrophy, and subcutaneous hemorrhage in commercial broilers.", "output": {"entities": {"gene": [{"text": "CAV", "start": 12, "end": 15}], "disease": [{"text": "subcutaneous hemorrhage", "start": 74, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The primary aim of this study was to study the association between FGGY and sporadic ALS in large, homogeneous populations from northern Europe.", "output": {"entities": {"gene": [{"text": "FGGY", "start": 67, "end": 71}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In line with the central role of D-bifunctional protein in the beta-oxidation of these three types of fatty acids, all patients with D-bifunctional protein deficiency so far reported in the literature show elevated levels of very long chain fatty acids, branched chain fatty acids and bile acid inter-mediates.", "output": {"entities": {"gene": [{"text": "D-bifunctional protein", "start": 33, "end": 55}], "disease": [{"text": "D-bifunctional protein deficiency", "start": 133, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "D-bifunctional protein", "start": 33, "end": 55}, "tail": {"text": "D-bifunctional protein deficiency", "start": 133, "end": 166}}]}}, "schema": []}
{"input": "Furthermore, there was a significant difference between the group of infertile patients with azoospermia and oligoasthenoteratozoospermia (OAT) when compared by genotype distribution (-786CC vs. 786TT, 894TT vs. 894GG, and 4aa vs. 4bb) (all P < 0. 01).", "output": {"entities": {"gene": [{"text": "OAT", "start": 139, "end": 142}], "disease": [{"text": "infertile", "start": 69, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "In this study, a more comprehensive analysis of the molecular pathology of haemophilia B in Turkey revealed one large deletion and 33 point mutations in the FIX gene of 34 unrelated patients.", "output": {"entities": {"gene": [{"text": "FIX", "start": 157, "end": 160}], "disease": [{"text": "haemophilia B", "start": 75, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIX", "start": 157, "end": 160}, "tail": {"text": "haemophilia B", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "Mechanistically, CNS disease was due to edema, induced in a CD8-dependent but perforin-independent manner, and brain herniation, similar to that observed in mice challenged intracerebrally with LCMV.", "output": {"entities": {"gene": [{"text": "CD8", "start": 60, "end": 63}], "disease": [{"text": "edema", "start": 40, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "We have measured the levels of typical end products of the processes of lipid peroxidation, protein oxidation, and total antioxidant capacity (TAC) in skin fibroblasts and lymphoblasts taken from patients with familial Alzheimer' s disease (FAD), sporadic Alzheimer' s disease (AD), and age-matched healthy controls.", "output": {"entities": {"gene": [{"text": "FAD", "start": 241, "end": 244}], "disease": [{"text": "sporadic", "start": 247, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that gigaxonin controls protein degradation of tubulin folding cofactor B (TBCB), a function disrupted by GAN-associated mutations.", "output": {"entities": {"gene": [{"text": "gigaxonin", "start": 19, "end": 28}], "disease": [{"text": "GAN", "start": 120, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gigaxonin", "start": 19, "end": 28}, "tail": {"text": "GAN", "start": 120, "end": 123}}]}}, "schema": []}
{"input": "Here, we report retinal thinning as an early disease phenotype in humans with GRN mutations that precedes dementia onset and an age-dependent retinal neurodegenerative phenotype in Grn-KO mice.", "output": {"entities": {"gene": [{"text": "GRN", "start": 78, "end": 81}], "disease": [{"text": "retinal thinning", "start": 16, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Expression of ERCC1, TYMS, TUBB3, non‑muscle myosin II, myoglobin and MyoD1 genes was associated with decreased survival in patients with metastatic lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "TUBB3", "start": 27, "end": 32}], "disease": [{"text": "metastatic lung adenocarcinoma", "start": 138, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Later, a fusion of the genes PAX8 and PPARG resulting from this translocation was frequently observed in follicular carcinomas and considered as a marker of follicular thyroid cancer.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 38, "end": 43}], "disease": [{"text": "translocation", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to describe and compare the frequencies of polymorphisms on the interleukin (IL)-6, IL-10, tumor necrosis factor (TNF)-alpha, transforming growth factor (TGF)-beta1, and interferon (IFN)-gamma genes between patients with chronic pancreatitis (CP) and healthy individuals from Bahia, Brazil.", "output": {"entities": {"gene": [{"text": "IFN", "start": 210, "end": 213}], "disease": [{"text": "chronic pancreatitis", "start": 249, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Thus U87 astrocytoma cells express both CaR mRNA and protein, and the receptor activates an outward K + channel previously suggested to be involved in membrane polarization and cellular excitability.", "output": {"entities": {"gene": [{"text": "U87", "start": 5, "end": 8}], "disease": [{"text": "astrocytoma", "start": 9, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "ECRG4 mRNA expression was quantified by real-time RT-PCR in 63 ESCC and corresponding normal esophageal mucosal samples.", "output": {"entities": {"gene": [{"text": "ECRG4", "start": 0, "end": 5}], "disease": [{"text": "esophageal", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "An additional 43 families and 3 sporadic patients with TGFBI dystrophies from China reported in the literature were reviewed.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 55, "end": 60}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "LTBP4 haplotype influences age at loss of ambulation, and should be considered in the management of DMD patients.", "output": {"entities": {"gene": [{"text": "LTBP4", "start": 0, "end": 5}], "disease": [{"text": "DMD", "start": 100, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LTBP4", "start": 0, "end": 5}, "tail": {"text": "DMD", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "FBP1 was lowly expressed in 80% (8/10) human hepatocellular carcinoma, 66. 7% (6/9) liver cancer cell lines and 100% (6/6) colon cancer cell lines, but was higher in paired adjacent non-tumor tissues and immortalized normal cell lines, which was well correlated with its promoter methylation status.", "output": {"entities": {"gene": [{"text": "FBP1", "start": 0, "end": 4}], "disease": [{"text": "hepatocellular carcinoma", "start": 45, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBP1", "start": 0, "end": 4}, "tail": {"text": "hepatocellular carcinoma", "start": 45, "end": 69}}]}}, "schema": []}
{"input": "To the best of our knowledge, this is the first evidence showing that the promoter methylation of the GMR2 and GMR5 genes greatly decreased the risk of schizophrenia, and the expression level of the GRM2, GRM5, and GRIA3 genes increased significantly in patients in comparison to healthy controls.", "output": {"entities": {"gene": [{"text": "GRIA3", "start": 215, "end": 220}], "disease": [{"text": "schizophrenia", "start": 152, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA3", "start": 215, "end": 220}, "tail": {"text": "schizophrenia", "start": 152, "end": 165}}]}}, "schema": []}
{"input": "To characterize DNA mutations in a pedigree of Axenfeld-Rieger anomaly (ARA) (Online Mendelian Inheritance of Man 601631), a clinically and genetically heterogeneous, autosomal dominantly inherited disorder associated with anterior chamber abnormalities and glaucoma.", "output": {"entities": {"gene": [{"text": "ARA", "start": 72, "end": 75}], "disease": [{"text": "glaucoma", "start": 258, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Within nonlesional cases, autosomal dominant lateral temporal epilepsy (ADLTE) is a well-defined, albeit rare, condition characterized by onset in adolescence or early adulthood of lateral temporal seizures with prominent auditory auras sometimes triggered by external noises, normal conventional magnetic resonance imaging (MRI), good response to antiepileptic treatment, and overall benign outcome.", "output": {"entities": {"gene": [{"text": "MRI", "start": 325, "end": 328}], "disease": [{"text": "lateral temporal epilepsy", "start": 45, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Since HCC develop in the majority of cases in cirrhotic liver tissue and cirrhosis is the main risk factor for HCC development, we analyzed RKIP expression also in non-cancerous cirrhotic liver tissues by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "RKIP", "start": 140, "end": 144}], "disease": [{"text": "cirrhosis", "start": 73, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "mRNA ratios of DARPP32, STAT1, STAT3, STAT5A and STAT5B were assessed in routinely diagnosed gliomas s including a series of glioblastomas from patients (n = 67) treated with chemoradiotherapy (temozolomide), out of which 88% had sequencing validated IDH-negative disease.", "output": {"entities": {"gene": [{"text": "DARPP32", "start": 15, "end": 22}], "disease": [{"text": "gliomas", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found that expression of RelB was strongly upregulated during inflammation in vivo and by IL-1 in astrocytes in vitro.", "output": {"entities": {"gene": [{"text": "RelB", "start": 38, "end": 42}], "disease": [{"text": "inflammation", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These findings extend the link between mitochondrial dysfunction and tumorigenesis and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility.", "output": {"entities": {"gene": [{"text": "SDHB", "start": 109, "end": 113}], "disease": [{"text": "pheochromocytoma", "start": 150, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHB", "start": 109, "end": 113}, "tail": {"text": "pheochromocytoma", "start": 150, "end": 166}}]}}, "schema": []}
{"input": "Here, we describe three patients with Lowry Wood syndrome with biallelic RNU4ATAC pathogenic variants.", "output": {"entities": {"gene": [{"text": "RNU4ATAC", "start": 73, "end": 81}], "disease": [{"text": "Lowry Wood syndrome", "start": 38, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RNU4ATAC", "start": 73, "end": 81}, "tail": {"text": "Lowry Wood syndrome", "start": 38, "end": 57}}]}}, "schema": []}
{"input": "Promoter methylation of Reprimo was found in 79% of gastric cancers, 62% of gallbladder cancers, 57% of lymphomas, 56% of colorectal cancers, 40% of esophageal adenocarcinomas, 37% of breast cancers and 31% of leukemias.", "output": {"entities": {"gene": [{"text": "Reprimo", "start": 24, "end": 31}], "disease": [{"text": "lymphomas", "start": 104, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Since classical NPB is very rare, it is suggested that SMD patients with late-or mild-manifesting neurological symptoms should better be assigned to additional SMD subgroups than grouped with NPB.", "output": {"entities": {"gene": [{"text": "NPB", "start": 16, "end": 19}], "disease": [{"text": "mild", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of serum response factor restores ocular dominance plasticity in a model of fetal alcohol spectrum disorders.", "output": {"entities": {"gene": [{"text": "serum response factor", "start": 18, "end": 39}], "disease": [{"text": "fetal alcohol spectrum disorders", "start": 91, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "serum response factor", "start": 18, "end": 39}, "tail": {"text": "fetal alcohol spectrum disorders", "start": 91, "end": 123}}]}}, "schema": []}
{"input": "Using a logistic model, FII G20210A mutation (odds ratio [OR] 19. 8, confidence interval [CI] 4. 5-87. 1, p = 0. 001), LAC (OR 2. 7, CI1. 1-6. 5, p = 0. 032), and fibrinogen (OR 1. 01, CI 1. 00-1. 01, p = 0. 001) were associated with CLI, whereas homocysteine, FVIII, and FV R506Q mutation were not.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 261, "end": 266}], "disease": [{"text": "fibrinogen", "start": 163, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Based on the current evidence, mutations implicated in channelopathies have the potential to be used for genetic testing to diagnose blindness due to Kir7. 1.", "output": {"entities": {"gene": [{"text": "Kir7. 1", "start": 150, "end": 157}], "disease": [{"text": "channelopathies", "start": 55, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "It is flanked by two genes ASZ1 [ankyrin repeat, SAM (sterile alpha-motif) and basic leucine zipper] and CTTNBP2 (cortactin-binding protein 2), which have very different expression profiles.", "output": {"entities": {"gene": [{"text": "ASZ1", "start": 27, "end": 31}], "disease": [{"text": "sterile", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In classic interstitial cystitis samples nonulcerative portions demonstrated a significant increase in the expression of TRPA1, TRPM2 and 8, TRPV1 and 2, ASIC1, NGF and CXCL9, and a significant decrease in UPK3A and TRPV4.", "output": {"entities": {"gene": [{"text": "TRPA1", "start": 121, "end": 126}], "disease": [{"text": "interstitial cystitis", "start": 11, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the roles of the CDKN1C (P57KIP2) gene, which encodes for the cyclin-dependent kinase inhibitor CDNC, and the TP53 tumor suppressor gene in adrenal tumorigenesis, as a means of investigating the molecular basis of sporadic adrenal tumors, which is unknown.", "output": {"entities": {"gene": [{"text": "TP53", "start": 122, "end": 126}], "disease": [{"text": "sporadic", "start": 226, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Extracellular superoxide dismutase (EC-SOD) quenches free radicals and attenuates age-related cognitive decline: opportunities for novel drug development in aging.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 36, "end": 42}], "disease": [{"text": "age-related cognitive decline", "start": 82, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 33, "end": 38}], "disease": [{"text": "congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "start": 85, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 33, "end": 38}, "tail": {"text": "congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "start": 85, "end": 148}}]}}, "schema": []}
{"input": "These findings suggest that PTD-FNK reduces the volume of myocardial infarction with corresponding functional recovery, at least in part, through the suppression of myocardial apoptosis following ischemia/reperfusion.", "output": {"entities": {"gene": [{"text": "FNK", "start": 32, "end": 35}], "disease": [{"text": "ischemia", "start": 196, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Autism/autistic disorder (MIM number 209850) is a complex, largely genetic psychiatric disorder.", "output": {"entities": {"gene": [{"text": "MIM", "start": 26, "end": 29}], "disease": [{"text": "autistic disorder", "start": 7, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "DSPP mutation in dentinogenesis imperfecta Shields type II.", "output": {"entities": {"gene": [{"text": "DSPP", "start": 0, "end": 4}], "disease": [{"text": "dentinogenesis imperfecta Shields type II", "start": 17, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DSPP", "start": 0, "end": 4}, "tail": {"text": "dentinogenesis imperfecta Shields type II", "start": 17, "end": 58}}]}}, "schema": []}
{"input": "We describe a de novo constitutional (X; 17) (q13; p13 translocation in a girl with the clinical features of hypomelanosis of to and plexus papilloma.", "output": {"entities": {"gene": [{"text": "p13", "start": 51, "end": 54}], "disease": [{"text": "papilloma", "start": 140, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The phenylpropenone derivatives inhibited NF-κB transcriptional activity, which correlated with their suppressive activity against TNF-α-induced adhesion of U937 human monocytic cells to HT-29 human colonic epithelial cells, an in vitro model of IBD.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 42, "end": 47}], "disease": [{"text": "adhesion", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The ALDH2 promoter variant was associated with binge-drinking, and the ALDH1b1 ala69val polymorphism was associated with diastolic blood pressure.", "output": {"entities": {"gene": [{"text": "ALDH1b1", "start": 71, "end": 78}], "disease": [{"text": "diastolic blood pressure", "start": 121, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "There was no correlation between TRX and TBP-2 mRNA levels in patients with endometriosis, whereas TRX mRNA levels were positively correlated with TBP-2 mRNA levels in the control group.", "output": {"entities": {"gene": [{"text": "TBP", "start": 41, "end": 44}], "disease": [{"text": "endometriosis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The effect of the wide spectrum P2 receptor antagonist PPADS, the selective P2X7 receptor antagonist Brilliant Blue G (BBG), the P2X1 receptor antagonist (4, 4', 4'', 4-[carbonylbis (imino-5, 1, 3-benzenetriyl-bis (carbonylimino))] tetrakis-1, 3-benzenedisulfonic acid, octasodium salt (NF449) and (8, 8'-[carbonylbis (imino-3, 1-phenylenecarbonylimino)] bis-1, 3, 5-naphthalene-trisulphonic acid, hexasodium salt (NF023), the P2Y12 receptor antagonist (2, 2-dimethyl-propionic acid 3-(2-chloro-6-methylaminopurin-9-yl)-2-(2, 2-dimethyl-propionyloxymethyl)-propylester (MRS2395), the selective P2Y1 receptor agonist ([[(1R, 2R, 3S, 4R, 5S)-4-[6-amino-2-(methylthio)-9H-purin-9-yl]-2, 3-dihydroxybicyclo [3. 1. 0] hex-1-yl] methyl] diphosphoric acid mono ester trisodium salt (MRS2365), the P2Y2/P2Y4 agonist uridine-5'-triphosphate (UTP), and the P2Y4/P2Y6 agonist uridine-5'-diphosphate (UDP) were examined on mechanical allodynia in the Seltzer model of neuropathic pain, on acute thermal nociception, and on the inflammatory pain and oedema induced by complete Freund' s adjuvant (CFA).", "output": {"entities": {"gene": [{"text": "P2Y4", "start": 795, "end": 799}], "disease": [{"text": "neuropathic pain", "start": 956, "end": 972}]}, "relations": {}}, "schema": []}
{"input": "nNOS gene deletion exacerbates pathological left ventricular remodeling and functional deterioration after myocardial infarction.", "output": {"entities": {"gene": [{"text": "nNOS", "start": 0, "end": 4}], "disease": [{"text": "left ventricular remodeling", "start": 44, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nNOS", "start": 0, "end": 4}, "tail": {"text": "left ventricular remodeling", "start": 44, "end": 71}}]}}, "schema": []}
{"input": "p16 (INK4a) promoter methylation and protein expression in breast fibroadenoma and carcinoma.", "output": {"entities": {"gene": [{"text": "INK4a", "start": 5, "end": 10}], "disease": [{"text": "breast fibroadenoma", "start": 59, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry of primary and metastatic melanoma also shows increased BMP4 and BMP7 expression compared with nevi.", "output": {"entities": {"gene": [{"text": "BMP7", "start": 86, "end": 90}], "disease": [{"text": "nevi", "start": 116, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the potential interaction between N-acetyltransferase 2 (NAT2) and smoking in breast cancer incidence.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 69, "end": 73}], "disease": [{"text": "smoking", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We present evidence that EDAR is capable of activating the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways and that these activities are impaired in mutants lacking its death domain or those associated with anhidrotic ectodermal dysplasia and the downless phenotype.", "output": {"entities": {"gene": [{"text": "JNK", "start": 82, "end": 85}], "disease": [{"text": "anhidrotic ectodermal dysplasia", "start": 231, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency.", "output": {"entities": {"gene": [{"text": "GATA3", "start": 71, "end": 76}], "disease": [{"text": "HDR syndrome", "start": 0, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GATA3", "start": 71, "end": 76}, "tail": {"text": "HDR syndrome", "start": 0, "end": 12}}]}}, "schema": []}
{"input": "To investigate the role of ATF3 in hypertrophic process, we overexpressed ATF3 by adenovirus-mediated gene transfer.", "output": {"entities": {"gene": [{"text": "ATF3", "start": 27, "end": 31}], "disease": [{"text": "adenovirus", "start": 82, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We screened 81 ovarian tumours (30 BRCA1 associated, 18 BRCA2 associated, and 33 sporadic) for somatic TP53 mutations using both DNA analysis and immunostaining.", "output": {"entities": {"gene": [{"text": "TP53", "start": 103, "end": 107}], "disease": [{"text": "sporadic", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 137, "end": 144}], "disease": [{"text": "language delay", "start": 159, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTNAP2", "start": 137, "end": 144}, "tail": {"text": "language delay", "start": 159, "end": 173}}]}}, "schema": []}
{"input": "JAG1 expression was significantly increased in SZ and exhibited positive correlations with mediators of the canonical Notch pathway but negative correlations with mature Ol genes.", "output": {"entities": {"gene": [{"text": "JAG1", "start": 0, "end": 4}], "disease": [{"text": "SZ", "start": 47, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JAG1", "start": 0, "end": 4}, "tail": {"text": "SZ", "start": 47, "end": 49}}]}}, "schema": []}
{"input": "In addition to the previously reported symptoms of severe runting, abnormalities of liver nuclei and greatly reduced lifespan (which appeared less severe in the truncation mutant), both types of ERCC1-mutant mouse exhibited an absence of subcutaneous fat, early onset of ferritin deposition in the spleen, kidney malfunction, gross abnormalities of ploidy and cytoplasmic invaginations in nuclei of liver and kidney, and compromised NER and cross-link repair.", "output": {"entities": {"gene": [{"text": "NER", "start": 433, "end": 436}], "disease": [{"text": "absence of subcutaneous fat", "start": 227, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "However, unlike fibroblast adhesion to Cyr61, cell surface HSPGs are not absolutely required for this adhesion process.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 39, "end": 44}], "disease": [{"text": "adhesion", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we demonstrate that Th-cytokines, like IL-4, IL-13 and IFNgamma, which regulate the biphasic atopic immune response, directly regulate the expression of PPARgamma1.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 58, "end": 63}], "disease": [{"text": "atopic", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "LAMB1 encodes laminin beta-1, which is expressed during early development of the human nervous system, and could be involved in the pathogenesis of neurodevelopmental disorders.", "output": {"entities": {"gene": [{"text": "LAMB1", "start": 0, "end": 5}], "disease": [{"text": "nervous system", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Pfeiffer syndrome (PS; McKusick MIM 101, 600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofacial anomalies and broad thumbs and big toes.", "output": {"entities": {"gene": [{"text": "MIM", "start": 32, "end": 35}], "disease": [{"text": "craniosynostosis syndrome", "start": 71, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The distribution of the TAP2 alleles analyzed in the different lesions demonstrated a 48. 4% homozygosity of the tumors regarding different N-SNPs.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 24, "end": 28}], "disease": [{"text": "tumors", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Recently, we found that glycolytic enzymes were abundant and some were increased in pseudopodia formed by U87 glioma (astrocytoma) cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 106, "end": 109}], "disease": [{"text": "astrocytoma", "start": 118, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Sixty participants were recruited for this study; 50 were hypertensive patients complaining of chest pain [30 of them have electrocardiogram (EKG) changes of ischemia], 20 had isolated HPN, and 10 healthy volunteers served as control.", "output": {"entities": {"gene": [{"text": "HPN", "start": 185, "end": 188}], "disease": [{"text": "chest pain", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Thus, in PTHrP-secreting prostate cancers metastatic to bone, the CaR could initiate a vicious cycle, whereby PTHrP-induced bone resorption releases [Ca (2 +)] (o) and TGF-beta stored within bone, further increasing PTHrP release and osteolysis.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 168, "end": 176}], "disease": [{"text": "osteolysis", "start": 234, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "At the same time, the overexpression of miR-422a in HCC tumor cells significantly inhibits tumor growth and liver metastasis in xenograft tumor models.", "output": {"entities": {"gene": [{"text": "HCC", "start": 52, "end": 55}], "disease": [{"text": "liver metastasis", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.", "output": {"entities": {"gene": [{"text": "SOS1", "start": 82, "end": 86}], "disease": [{"text": "stature", "start": 140, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on a heterozygous mutation in EGR2 (c. 1160C > A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult-onset CMT.", "output": {"entities": {"gene": [{"text": "EGR2", "start": 46, "end": 50}], "disease": [{"text": "mild", "start": 158, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "This opportunity exploits the discovery that an intestinal receptor, guanylyl cyclase C, which mediates diarrhea induced by bacterial heat-stable enterotoxins (STs), is over-expressed by metastatic colorectal tumors only.", "output": {"entities": {"gene": [{"text": "guanylyl cyclase C", "start": 69, "end": 87}], "disease": [{"text": "colorectal tumors", "start": 198, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "guanylyl cyclase C", "start": 69, "end": 87}, "tail": {"text": "colorectal tumors", "start": 198, "end": 215}}]}}, "schema": []}
{"input": "The present data indicate that ERbeta ligands in combination with TMX may have tumor static effects on colon cancer cells.", "output": {"entities": {"gene": [{"text": "TMX", "start": 66, "end": 69}], "disease": [{"text": "tumor", "start": 79, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Plasma fatty acid composition, insulin sensitivity, plasma adiponectin and lipid concentrations, and ADIPOQ, ADIPOR1, and ADIPOR2 SNP genotypes were determined in a cross-sectional analysis of 451 subjects with the MetS who participated in the LIPGENE (Diet, Genomics, and the Metabolic Syndrome: an Integrated Nutrition, Agro-food, Social, and Economic Analysis) dietary intervention study and were repeated in 1754 subjects from the LIPGENE-SU. VI. MAX (SUpplementation en VItamines et Minéraux AntioXydants) case-control study (http://www. ucd. ie/lipgene).", "output": {"entities": {"gene": [{"text": "MAX", "start": 451, "end": 454}], "disease": [{"text": "insulin sensitivity", "start": 31, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Several biomarkers, such as multimerin 1, ficolin 1, carboxypeptidase N (CPN2), serine protease 1, and platelet factor 4, were tightly correlated with the diagnosis of sepsis.", "output": {"entities": {"gene": [{"text": "CPN2", "start": 73, "end": 77}], "disease": [{"text": "sepsis", "start": 168, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Transcatheter arterial chemoembolization (TACE) has become the standard treatment for unresectable hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 125, "end": 128}], "disease": [{"text": "unresectable hepatocellular carcinoma", "start": 86, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "• Although HGPIN is considered a precursor to cancer, as no LOH was observed, this assay does not provide a genetic marker that may be considered a positive predictor of tumorigenesis in BRCA2 carriers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 187, "end": 192}], "disease": [{"text": "tumorigenesis", "start": 170, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "To analyze the role of precursor lesions in the pathogenesis of GBC we studied the immunohistochemical (IHC) expression of p53, carcino-embryonic antigen (CEA) and carbohydrate antigen 19. 9 (CA-19. 9) in GBC, chronic cholecystitis (CC), XG cholecystitis (XGC) and precursor lesions.", "output": {"entities": {"gene": [{"text": "CEA", "start": 155, "end": 158}], "disease": [{"text": "chronic cholecystitis", "start": 210, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have used 11 microsatellite markers to analyse loss of heterozygosity (LOH) at chromosome 8p in 151 sporadic breast tumours and 50 tumours from subjects carrying the BRCA2 999del5 mutation.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 184, "end": 189}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the association of the rs7756992 of CDKAL1 and the rs4402960 of IGF2BP2 with Type 2 diabetes, diabetic complications (nephropathy, retinopathy and cardiovascular disease), obesity and hypertension in a Tunisian population.", "output": {"entities": {"gene": [{"text": "IGF2BP2", "start": 95, "end": 102}], "disease": [{"text": "diabetic complications", "start": 125, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "TMX attenuated the elevation of pERK1/2, an effect correlated with reduced infarct size.", "output": {"entities": {"gene": [{"text": "TMX", "start": 0, "end": 3}], "disease": [{"text": "infarct", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we concluded that inducible COX-2 facilitates the recurrence of hippocampal seizures.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 39, "end": 44}], "disease": [{"text": "seizures", "start": 87, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 39, "end": 44}, "tail": {"text": "seizures", "start": 87, "end": 95}}]}}, "schema": []}
{"input": "The COL1A1 mutation produced the most severe phenotypic effects, whereas those in the COL1A2 gene, regardless of the location or effect, produced congenital hip dislocation and other joint instability that was sometimes very marked.", "output": {"entities": {"gene": [{"text": "COL1A2 gene", "start": 86, "end": 97}], "disease": [{"text": "joint instability", "start": 183, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic correlations between borderline personality and the FFM personality traits ranged from. 06 for openness to experience to. 68 for neuroticism.", "output": {"entities": {"gene": [{"text": "FFM", "start": 63, "end": 66}], "disease": [{"text": "borderline personality", "start": 32, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Peripheral T lymphocytes from asymptomatic HBsAg carriers and hepatitis B (HB) immune (naturally acquired or vaccine induced) donors were induced into interleukin-2 (IL-2) secretion by plasma-derived HBsAg and the translational products of the S-and pre-S2 + S gene of HB virus (HBV) in vitro.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 166, "end": 170}], "disease": [{"text": "asymptomatic", "start": 30, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In addition to hypoxia, peptide growth factors are known to regulate VEGF expression but the effect of stem cell factor (SCF), the ligand for c-Kit, on VEGF expression has not been characterized.", "output": {"entities": {"gene": [{"text": "c-Kit", "start": 142, "end": 147}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "IL-1RN genotype was then compared with the presence of bacteria in normally sterile sites in infant deaths.", "output": {"entities": {"gene": [{"text": "IL-1RN", "start": 0, "end": 6}], "disease": [{"text": "sterile", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In order to improve understanding of the role of PTEN in mammary tumorigenesis in terms of a possible gene dosage effect, its PI3K pathway function and its association with p53, we undertook comprehensive analysis of PTEN status in 135 sporadic invasive ductal carcinomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 173, "end": 176}], "disease": [{"text": "sporadic", "start": 236, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 0, "end": 5}], "disease": [{"text": "Myhre syndrome", "start": 24, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMAD4", "start": 0, "end": 5}, "tail": {"text": "Myhre syndrome", "start": 24, "end": 38}}]}}, "schema": []}
{"input": "We concluded that GGT is positively related to age in the 20s to late 30s and to BMI in overweight subjects; both relationships of age and BMI were independent of alcohol consumption.", "output": {"entities": {"gene": [{"text": "GGT", "start": 18, "end": 21}], "disease": [{"text": "overweight", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We extend a comprehensive three-parameter linear-exponential model for the excess odds ratio (EOR) for smoking to include effects of NAT2 status, and reanalyse smoking and NAT2 status for the bladder cancer data.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 133, "end": 137}], "disease": [{"text": "smoking", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that CXCL10-CXCR3 may play an important role in the pulpal immune response to caries-related bacterial invasion.", "output": {"entities": {"gene": [{"text": "CXCR3", "start": 35, "end": 40}], "disease": [{"text": "caries", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, semi-quantitative RT-PCR analyses revealed marked down-modulation of a Th1 cytokine, interferon (IFN)-gamma, in IL-4-stimulated PBMC derived from atopy patients, but not that from healthy individuals.", "output": {"entities": {"gene": [{"text": "Th1", "start": 84, "end": 87}], "disease": [{"text": "atopy", "start": 159, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The function of PRRT2 and its role in paroxysmal kinesigenic dyskinesia should be further investigated.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 16, "end": 21}], "disease": [{"text": "paroxysmal kinesigenic dyskinesia", "start": 38, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRRT2", "start": 16, "end": 21}, "tail": {"text": "paroxysmal kinesigenic dyskinesia", "start": 38, "end": 71}}]}}, "schema": []}
{"input": "Our results suggest that, because of the higher expression of these genes and the possible induction of these genes by DAC, patients with gastric carcinoma may, therefore, be potential candidates for tumor-specific immunotherapy directed against these antigens.", "output": {"entities": {"gene": [{"text": "DAC", "start": 119, "end": 122}], "disease": [{"text": "gastric carcinoma", "start": 138, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "In a family expressing euthyroid hyperthyroxinemia, an increased association of plasma thyroxine (T4) with transthyretin (TTR) is transmitted by autosomal dominant inheritance and is secondary to a mutant TTR molecule with increased affinity for T4.", "output": {"entities": {"gene": [{"text": "TTR", "start": 122, "end": 125}], "disease": [{"text": "euthyroid hyperthyroxinemia", "start": 23, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The GC2 variant predisposed to bronchiectasis in AATD (p = 0. 04) and protected against COPD (p = 0. 05); the latter association was replicated in usual COPD versus controls (p = 0. 04).", "output": {"entities": {"gene": [{"text": "GC2", "start": 4, "end": 7}], "disease": [{"text": "bronchiectasis", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Furthermore ESR was expressed in the melanocytes which have an important role in the pigmentation.", "output": {"entities": {"gene": [{"text": "ESR", "start": 12, "end": 15}], "disease": [{"text": "pigmentation", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Anti-GPVI-associated ITP: an acquired platelet disorder caused by autoantibody-mediated clearance of the GPVI/FcRgamma-chain complex from the human platelet surface.", "output": {"entities": {"gene": [{"text": "GPVI", "start": 5, "end": 9}], "disease": [{"text": "platelet disorder", "start": 38, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The BRCA1 and BRCA2 gene products are believed to play an important part in the onset and/or development of many sporadic mammary cancers.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 14, "end": 24}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The authors examined whether familial hamartomatous polyps harbor defects in DNA mismatch repair (MMR), and assayed for somatic mutation of PTEN, a gene inactivated in the germline of some hamartomatous polyposis syndrome patients.", "output": {"entities": {"gene": [{"text": "MMR", "start": 98, "end": 101}], "disease": [{"text": "hamartomatous polyposis", "start": 189, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Previously, the recurrent somatic mutation c. 548G > A (p. R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing.", "output": {"entities": {"gene": [{"text": "GNAQ", "start": 85, "end": 89}], "disease": [{"text": "somatic mutation", "start": 26, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "These results are consistent with a possible link between genetic variations in the HPA axis and inattention and hyperactivity measures.", "output": {"entities": {"gene": [{"text": "HPA", "start": 84, "end": 87}], "disease": [{"text": "inattention", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The interaction of RasGRP3 and Arp3 was validated by immunofluorescence staining and co-immunoprecipitation, and PMA, which activates RasGRP3 and induces its translocation to the peri-nuclear region, increased the association of Arp3 and RasGRP3.", "output": {"entities": {"gene": [{"text": "Arp3", "start": 31, "end": 35}], "disease": [{"text": "translocation", "start": 158, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Given the association of neurological diseases with autoantibodies directed to the TNR region on exon 5 of TNRC6A, this study examined whether there were TNR expansions as described in other neurological diseases and/or mutations in the nucleotide sequence of the CAG/CCA/G-rich region in seven anti-GW/P body positive patients, six control and eight breast cancer patients.", "output": {"entities": {"gene": [{"text": "TNR", "start": 83, "end": 86}], "disease": [{"text": "breast cancer", "start": 351, "end": 364}]}, "relations": {}}, "schema": []}
{"input": "Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2-21. 3.", "output": {"entities": {"gene": [{"text": "2-21", "start": 109, "end": 113}], "disease": [{"text": "frontotemporal dementia", "start": 44, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.", "output": {"entities": {"gene": [{"text": "ATP1A1", "start": 30, "end": 36}], "disease": [{"text": "Intellectual Disability", "start": 90, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP1A1", "start": 30, "end": 36}, "tail": {"text": "Intellectual Disability", "start": 90, "end": 113}}]}}, "schema": []}
{"input": "We genotyped 23 single nucleotide polymorphisms (SNPs) in the PDYN and OPRK1 genes in 816 alcohol-dependent subjects and investigated their association with: (1) negative craving measured by a subscale of the Inventory of Drug Taking Situations; (2) a self-reported history of depression; (3) the intensity of depressive symptoms measured by the Beck Depression Inventory-II.", "output": {"entities": {"gene": [{"text": "OPRK1", "start": 71, "end": 76}], "disease": [{"text": "Depression", "start": 351, "end": 361}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPRK1", "start": 71, "end": 76}, "tail": {"text": "Depression", "start": 351, "end": 361}}]}}, "schema": []}
{"input": "Expression of Ki-67 and HIF-1alpha, activated caspase 3, microvascular density (MVD) and tumor necrotic area assessed.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 46, "end": 55}], "disease": [{"text": "necrotic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "To estimate the overall prevalence of FAD-associated mutations in the beta A4 domain of APP, we sequenced exons 16 and 17 in 30 (20 early-and 10 late-onset) FAD kindreds and in 11 sporadic AD cases, and we screened 56 FAD kindreds and 81 cases of sporadic AD for the presence of the originally reported FAD-associated mutation, APP717 Val----Ile (by BclI digestion).", "output": {"entities": {"gene": [{"text": "FAD", "start": 38, "end": 41}], "disease": [{"text": "sporadic", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Stimulation of MSCs with recombinant AMF (rAMF) also induced the in vitro adhesion to endothelial cells in coincidence with changes in the expression levels of MMP3, AMF receptor, caveolin-1, and-2 and GDI-2.", "output": {"entities": {"gene": [{"text": "MMP3", "start": 160, "end": 164}], "disease": [{"text": "adhesion", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, these studies demonstrate that activation of c-Myc in beta-cells leads to 1) increased proliferation and apoptosis, 2) initial hyperplasia with amorphous islet organization, and 3) selective downregulation of insulin gene expression and the development of overt diabetes.", "output": {"entities": {"gene": [{"text": "insulin gene", "start": 224, "end": 236}], "disease": [{"text": "hyperplasia", "start": 142, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Serum PTH, 25-hydroxyvitamin D (25OHD), 1, 25-dihydroxyvitamin D (1, 25-(OH) 2D), plasma creatinine, phosphate, calcium, albumin, Bsm-1 vitamin D receptor genotype, age, weight and use of frusemide or thiazide.", "output": {"entities": {"gene": [{"text": "PTH", "start": 6, "end": 9}], "disease": [{"text": "weight", "start": 170, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "It would therefore appear likely that HLA-G plays an important role in liver diseases.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 38, "end": 43}], "disease": [{"text": "liver diseases", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that the functional polymorphisms in GSK3B promoter may be involved in the risk of developing sporadic LOAD in Han Chinese.", "output": {"entities": {"gene": [{"text": "GSK3B", "start": 58, "end": 63}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Microgliosis, quantified with ionized calcium-binding adapter molecule 1 (Iba-1) staining, did not differ between groups, whereas plaque associated microglia was more abundant in J20 CNR2 ⁻/⁻ mice.", "output": {"entities": {"gene": [{"text": "ionized calcium-binding adapter molecule 1", "start": 30, "end": 72}], "disease": [{"text": "plaque", "start": 130, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "HLA-G 14-bp polymorphism: a possible marker of systemic treatment response in psoriasis vulgaris? Preliminary results of a retrospective study.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 0, "end": 5}], "disease": [{"text": "psoriasis vulgaris", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We performed single SNP tests of association using linear regressions assuming an additive genetic model adjusted for age, sex, diastolic blood pressure, systolic blood pressure, and type 2 diabetes status for several outcomes including creatinine (urinary), creatinine (serum), albumin (urinary), eGFR, and albumin-to-urinary creatinine ratio (ACR).", "output": {"entities": {"gene": [{"text": "ACR", "start": 345, "end": 348}], "disease": [{"text": "systolic blood pressure", "start": 154, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Transient global ischemia results in selective neuronal damage of hippocampal CA1 neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 78, "end": 81}], "disease": [{"text": "ischemia", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "That such diverse stimuli can lead to activation of Rho kinase, which may cause hypercontraction of smooth muscle by promoting both actomyosin interaction and remodeling of the cytoskeleton, may explain why in various rat models of pulmonary hypertension Rho kinase inhibitors are more effective pulmonary vasodilators than conventional agents such as nitric oxide, prostacyclin, and nifedipine.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 52, "end": 62}], "disease": [{"text": "pulmonary hypertension", "start": 232, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Because caffeine (a nonselective adenosine receptor antagonist) and selective adenosine A2A receptor (A2A R) blockade alleviate neurodegeneration in different brain diseases, namely at early stages of another polyglutamine-related disorder such as Huntington' s disease, we now tested their ability to control MJD-associated neurodegeneration.", "output": {"entities": {"gene": [{"text": "adenosine A2A receptor", "start": 78, "end": 100}], "disease": [{"text": "brain diseases", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer.", "output": {"entities": {"gene": [{"text": "LEF1", "start": 62, "end": 66}], "disease": [{"text": "breast cancer", "start": 92, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LEF1", "start": 62, "end": 66}, "tail": {"text": "breast cancer", "start": 92, "end": 105}}]}}, "schema": []}
{"input": "Our study aimed to test the hypothesis that overexpression of ANT1 in cardiomyocytes has cardioprotective effects in diabetic cardiomyopathy induced by streptozotocin (STZ).", "output": {"entities": {"gene": [{"text": "ANT1", "start": 62, "end": 66}], "disease": [{"text": "diabetic cardiomyopathy", "start": 117, "end": 140}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ANT1", "start": 62, "end": 66}, "tail": {"text": "diabetic cardiomyopathy", "start": 117, "end": 140}}]}}, "schema": []}
{"input": "The neuroendocrine impact of ART on the offspring includes slight elevations of systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as increased circulating triglyceride concentrations, in children born after ART, especially in those with rapid catch-up growth in weight during early childhood.", "output": {"entities": {"gene": [{"text": "DBP", "start": 140, "end": 143}], "disease": [{"text": "systolic blood pressure", "start": 80, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Dystrophic forms of epidermolysis bullosa (DEB), characterized by mutations in the type VII collagen gene (COL7A1), are inherited either in an autosomal dominant or autosomal recessive fashion, and sporadic, de novo cases have also been reported.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 107, "end": 113}], "disease": [{"text": "sporadic", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "When L-arginine (2. 25 g/kg/day), pentoxifylline (10 mg/kg/day), or sildenafil (10 mg/kg/day) was given individually in the drinking water for 45 days to rats with a PD-like plaque induced by TGF beta1, each treatment resulted in a 80-95% reduction in both plaque size and in the collagen/fibroblast ratio, as determined by Masson trichrome staining.", "output": {"entities": {"gene": [{"text": "TGF beta1", "start": 192, "end": 201}], "disease": [{"text": "PD", "start": 166, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF beta1", "start": 192, "end": 201}, "tail": {"text": "PD", "start": 166, "end": 168}}]}}, "schema": []}
{"input": "A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.", "output": {"entities": {"gene": [{"text": "ED1", "start": 55, "end": 58}], "disease": [{"text": "anhidrotic ectodermal dysplasia", "start": 72, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ED1", "start": 55, "end": 58}, "tail": {"text": "anhidrotic ectodermal dysplasia", "start": 72, "end": 103}}]}}, "schema": []}
{"input": "Both germline and somatic loss-of-function CHEK2 mutations occur in human tumours, the former linked to the Li-Fraumeni syndrome, and the latter found in diverse types of sporadic malignancies.", "output": {"entities": {"gene": [{"text": "Li-Fraumeni syndrome", "start": 108, "end": 128}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We describe two cases of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) that were diagnosed with an inv (16) (p13q22) based on conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH) technique using a chromosome 16p arm specific paint probe.", "output": {"entities": {"gene": [{"text": "FISH", "start": 210, "end": 214}], "disease": [{"text": "eosinophilia", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The cytoprotective effects of overexpressed Hsp70 and Hsp27 were observed not only in the case of infection before hypoxia but also when EC were infected at the start of reoxygenation or 1-2 hours later.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 44, "end": 49}], "disease": [{"text": "hypoxia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "These site-specific GAS infections involved meningitis, arthritis, necrotizing fasciitis, and puerperal sepsis.", "output": {"entities": {"gene": [{"text": "GAS", "start": 20, "end": 23}], "disease": [{"text": "arthritis", "start": 56, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our findings provide supporting evidence that the C-2399A variant in XPNPEP2 is associated with reduced APP activity and a higher incidence of AE-ACEi.", "output": {"entities": {"gene": [{"text": "XPNPEP2", "start": 84, "end": 91}], "disease": [{"text": "AE-ACEi", "start": 158, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XPNPEP2", "start": 84, "end": 91}, "tail": {"text": "AE-ACEi", "start": 158, "end": 165}}]}}, "schema": []}
{"input": "Similar observations were made with a MTX-resistant subline of the promyelocytic leukemia cell line, HL-60R, with 200 gene copies of DHFR.", "output": {"entities": {"gene": [{"text": "MTX", "start": 38, "end": 41}], "disease": [{"text": "promyelocytic leukemia", "start": 67, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "While SAG is a bona fide anti-caries factor, DMBT1 was proposed as a candidate tumor-suppressor for brain, digestive tract, and lung cancer.", "output": {"entities": {"gene": [{"text": "SAG", "start": 6, "end": 9}], "disease": [{"text": "lung cancer", "start": 128, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Antagonism between interleukin 3 and erythropoietin in mice with azidothymidine-induced anemia and in bone marrow endothelial cells.", "output": {"entities": {"gene": [{"text": "interleukin 3", "start": 19, "end": 32}], "disease": [{"text": "anemia", "start": 88, "end": 94}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin 3", "start": 19, "end": 32}, "tail": {"text": "anemia", "start": 88, "end": 94}}]}}, "schema": []}
{"input": "Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus and are unable to prevent chromosome breakage.", "output": {"entities": {"gene": [{"text": "FANCE", "start": 48, "end": 53}], "disease": [{"text": "chromosome breakage", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "A previous study found that brain natriuretic peptide (BNP) inhibited inflammatory pain via activating its receptor natriuretic peptide receptor A (NPRA) in nociceptive sensory neurons.", "output": {"entities": {"gene": [{"text": "natriuretic peptide receptor A", "start": 116, "end": 146}], "disease": [{"text": "pain", "start": 83, "end": 87}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "natriuretic peptide receptor A", "start": 116, "end": 146}, "tail": {"text": "pain", "start": 83, "end": 87}}]}}, "schema": []}
{"input": "Taken together, we identified interesting novel candidate genes that likely contribute to glioma progression and provide first evidence for a role of epigenetic silencing of AMOG in malignant glioma cells.", "output": {"entities": {"gene": [{"text": "AMOG", "start": 174, "end": 178}], "disease": [{"text": "glioma", "start": 90, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMOG", "start": 174, "end": 178}, "tail": {"text": "glioma", "start": 90, "end": 96}}]}}, "schema": []}
{"input": "We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16. 3, 8q24. 21 and 8q24. 3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10 ⁻ ¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10 ⁻ ¹¹), and found interactions with smoking in both regions.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 218, "end": 222}], "disease": [{"text": "smoking", "start": 289, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "Thirty-seven FMCs with 27 matched non-neoplastic controls were also investigated for gene expression of ERa, ER beta, PR, and HER2.", "output": {"entities": {"gene": [{"text": "ER beta", "start": 109, "end": 116}], "disease": [{"text": "non-neoplastic", "start": 34, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that gene transfer-induced p75 (NTR) expression impairs the survival, proliferation, migration, and adhesion capacities of cultured ECs and endothelial progenitor cells (EPCs) and inhibits angiogenesis in vitro.", "output": {"entities": {"gene": [{"text": "NTR", "start": 46, "end": 49}], "disease": [{"text": "adhesion", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients.", "output": {"entities": {"gene": [{"text": "FAH", "start": 149, "end": 152}], "disease": [{"text": "HT1", "start": 168, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAH", "start": 149, "end": 152}, "tail": {"text": "HT1", "start": 168, "end": 171}}]}}, "schema": []}
{"input": "Mutation analysis of the MECP2 gene in patients with Rett syndrome.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 25, "end": 30}], "disease": [{"text": "Rett syndrome", "start": 53, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 25, "end": 30}, "tail": {"text": "Rett syndrome", "start": 53, "end": 66}}]}}, "schema": []}
{"input": "Recruitment of endothelial progenitor cells to the lung and subsequent neovascularisation was also IL-25 dependent, demonstrating a direct role for IL-25 during angiogenesis in vivo.", "output": {"entities": {"gene": [{"text": "IL-25", "start": 99, "end": 104}], "disease": [{"text": "neovascularisation", "start": 71, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The diabetogenic, insulin-specific CD8 T cell response primed in the experimental autoimmune diabetes model in RIP-B7. 1 mice.", "output": {"entities": {"gene": [{"text": "CD8", "start": 35, "end": 38}], "disease": [{"text": "autoimmune diabetes", "start": 82, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.", "output": {"entities": {"gene": [{"text": "haptoglobin", "start": 39, "end": 50}], "disease": [{"text": "ahaptoglobinemia", "start": 127, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "haptoglobin", "start": 39, "end": 50}, "tail": {"text": "ahaptoglobinemia", "start": 127, "end": 143}}]}}, "schema": []}
{"input": "We have already mapped the macular drusen susceptibility locus in rhesus macaques to the homolog of human chromosome 6q14-15 and shown that a particular IMPG1 gene SNP haplotype was apparently associated with drusen formation in the rhesus macaques maintained by the Caribbean Primate Research Center (CPRC), Puerto Rico, USA.", "output": {"entities": {"gene": [{"text": "IMPG1 gene", "start": 153, "end": 163}], "disease": [{"text": "macular drusen", "start": 27, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Gln/Gln alleles of both XRCC1 and XPD genes appear to amplify the effects of household exposure, smoking and betel quid chewing on lung cancer risk in the study population.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 24, "end": 29}], "disease": [{"text": "smoking", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We identified protein tyrosine kinase 6 (PTK6) as a transcript that was significantly down-regulated in ESCC tissues and cell lines compared with nontumor tissues or immortalized normal esophageal cell lines.", "output": {"entities": {"gene": [{"text": "PTK6", "start": 41, "end": 45}], "disease": [{"text": "esophageal", "start": 186, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Pretreatment of MPO-high leukemia cells with a MPO-specific inhibitor, 4-aminobenzoic acid hydrazide, or a MPO-specific small interfering RNA (siRNA) abrogated the PTL-induced ROS generation and apoptosis, indicating that MPO plays a crucial role in PTL-induced apoptosis in leukemia cells.", "output": {"entities": {"gene": [{"text": "PTL", "start": 164, "end": 167}], "disease": [{"text": "leukemia", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The primary lesion of NKH at gene level was investigated, using cDNA encoding human glycine decarboxylase.", "output": {"entities": {"gene": [{"text": "glycine decarboxylase", "start": 84, "end": 105}], "disease": [{"text": "primary lesion", "start": 4, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found that cytoplasmic p27 bound to a cleaved intermediate (p43/p41) of caspase 8 and that inhibition of cytoplasmic translocation of p27 reduced gefitinib-induced cell death in HCC827 cells.", "output": {"entities": {"gene": [{"text": "caspase 8", "start": 85, "end": 94}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "PCNA expression was negative in normal or inflammation of the cervix, but an increased in expression was seen in 63. 2% in CIN and 100% in SCC (P < 0. 01, P < 0. 05).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 42, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Choroideremia (CHM) is an X-linked retinal degeneration of photoreceptors, the retinal pigment epithelium (RPE) and choroid caused by loss of function mutations in the CHM/REP1 gene that encodes Rab escort protein 1.", "output": {"entities": {"gene": [{"text": "RPE", "start": 107, "end": 110}], "disease": [{"text": "retinal degeneration", "start": 35, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype.", "output": {"entities": {"gene": [{"text": "SLC17A5", "start": 72, "end": 79}], "disease": [{"text": "ISSD", "start": 136, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC17A5", "start": 72, "end": 79}, "tail": {"text": "ISSD", "start": 136, "end": 140}}]}}, "schema": []}
{"input": "The susceptibility of prostate cancer cell lines (PC-3, DU-145, and LNCaP) to measles virus infection was demonstrated using an MV-Edm derivative expressing green fluorescent protein (GFP).", "output": {"entities": {"gene": [{"text": "PC-3", "start": 50, "end": 54}], "disease": [{"text": "virus infection", "start": 86, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The severe visual impairment of individuals with mutations in RDH12 is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase.", "output": {"entities": {"gene": [{"text": "RDH12", "start": 62, "end": 67}], "disease": [{"text": "mild", "start": 97, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we conclude that TOPK has a protective function in solar UV light-induced inflammation.", "output": {"entities": {"gene": [{"text": "TOPK", "start": 28, "end": 32}], "disease": [{"text": "inflammation", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "After 5-week insulin therapy, there was a significant decrease in the expression of CCR5 on the surface of these cells and a significant fall in serum levels of RANTES, IL-6, TNF-alpha and hsCRP.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 161, "end": 167}], "disease": [{"text": "fall", "start": 137, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Using matrix-assisted laser desorption/ionization mass spectrometry, we identified six proteins in the NIL (four down, two up) and nine proteins in the SON (four up, five down) that are regulated as a consequence of chronic dehydration.", "output": {"entities": {"gene": [{"text": "SON", "start": 152, "end": 155}], "disease": [{"text": "dehydration", "start": 224, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Multivariate linear regression analysis indicated that the-1131T > C polymorphism remained an independent predictor of triglyceride, HDL-C, and FER (HDL) following adjustment of several variables including age, gender, body mass index, diabetes, lipid lowering and beta-blocker medication.", "output": {"entities": {"gene": [{"text": "FER", "start": 144, "end": 147}], "disease": [{"text": "diabetes", "start": 236, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "We used a flow cytometric assay to detect annexin V-, apoE-, apoAI-, apoJ-, and amyloid (A) β42-positive particles in CSF from 131 research volunteers who were neurologically normal or had mild cognitive impairment (MCI), Alzheimer disease (AD) dementia, or Parkinson disease.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 42, "end": 51}], "disease": [{"text": "dementia", "start": 245, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Postzygotic Mutations in Beta-Actin Are Associated with Becker' s Nevus and Becker' s Nevus Syndrome.", "output": {"entities": {"gene": [{"text": "Beta-Actin", "start": 25, "end": 35}], "disease": [{"text": "Becker' s Nevus Syndrome", "start": 76, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Beta-Actin", "start": 25, "end": 35}, "tail": {"text": "Becker' s Nevus Syndrome", "start": 76, "end": 100}}]}}, "schema": []}
{"input": "Variants of RARS include refractory cytopenia with multilineage dysplasia and ring sideroblasts, and RARS associated with marked thrombocytosis; these variants involve additional genetic lesions.", "output": {"entities": {"gene": [{"text": "RARS", "start": 12, "end": 16}], "disease": [{"text": "refractory cytopenia with multilineage dysplasia and ring sideroblasts", "start": 25, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "In addition, we describe new and recurrent, albeit less frequent, genetic defects including mutations in FYN, ATM, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance mechanisms in the pathogenesis of PTCL.", "output": {"entities": {"gene": [{"text": "CD58", "start": 123, "end": 127}], "disease": [{"text": "PTCL", "start": 254, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD58", "start": 123, "end": 127}, "tail": {"text": "PTCL", "start": 254, "end": 258}}]}}, "schema": []}
{"input": "To address the role of TREM-1 in a murine model of fungal allergic airway disease, A. fumigatus-sensitized CBA/J mice received by intratracheal injection a mixture of live A. fumigatus conidia and one of a control adenovirus vector (Ad70), an adenovirus containing a gene encoding for the extracellular domain of mouse TREM-1 and the F (c) portion of human IgG (AdTREM-1Ig; a soluble inhibitor of TREM-1 function), or an adenovirus containing mouse DAP12 (AdDAP12; DAP12 is an intracellular adaptor protein required for TREM-1 signaling), and examined at various days after challenge.", "output": {"entities": {"gene": [{"text": "DAP12", "start": 449, "end": 454}], "disease": [{"text": "adenovirus", "start": 214, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that epigenetically mediated inhibition of Ahcy expression may be a driving force in causing SAH elevation and subsequent downstream disturbances in transsulfuration and transmethylation pathways during the development and progression of NASH.-Pogribny, I. P., Dreval, K., Kindrat, I., Melnyk, S., Jimenez, L., de Conti, A., Tryndyak, V., Pogribna, M., Ortega, J. F., James, S. J., Rusyn, I., Beland, F. A. Epigenetically mediated inhibition of S-adenosylhomocysteine hydrolase and the associated dysregulation of 1-carbon metabolism in nonalcoholic steatohepatitis and hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "S-adenosylhomocysteine hydrolase", "start": 468, "end": 500}], "disease": [{"text": "nonalcoholic steatohepatitis", "start": 560, "end": 588}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S-adenosylhomocysteine hydrolase", "start": 468, "end": 500}, "tail": {"text": "nonalcoholic steatohepatitis", "start": 560, "end": 588}}]}}, "schema": []}
{"input": "Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.", "output": {"entities": {"gene": [{"text": "CTSC", "start": 13, "end": 17}], "disease": [{"text": "Papillon-Lefevre syndrome", "start": 28, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTSC", "start": 13, "end": 17}, "tail": {"text": "Papillon-Lefevre syndrome", "start": 28, "end": 53}}]}}, "schema": []}
{"input": "Our results suggest that LAB might be a new therapeutic agent for the prevention of nephropathy in type 2 diabetes.", "output": {"entities": {"gene": [{"text": "LAB", "start": 25, "end": 28}], "disease": [{"text": "type 2 diabetes", "start": 99, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We compared mRNA levels of these genes in the dentate gyrus (DG) and cornu ammonis (CA) 1 and CA3 of AH and PH in 20 matched pairs of control and schizophrenia cases.", "output": {"entities": {"gene": [{"text": "CA3", "start": 94, "end": 97}], "disease": [{"text": "schizophrenia", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "RECQL4-p53 interaction is disrupted after stress, allowing p53 translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "RECQL4", "start": 0, "end": 6}], "disease": [{"text": "translocation", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The identified biomarkers differentiated HCC from chronic hepatitis in another set of samples from Dhaka.", "output": {"entities": {"gene": [{"text": "HCC", "start": 41, "end": 44}], "disease": [{"text": "chronic hepatitis", "start": 50, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer.", "output": {"entities": {"gene": [{"text": "IRF-1", "start": 65, "end": 70}], "disease": [{"text": "gastric cancer", "start": 96, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IRF-1", "start": 65, "end": 70}, "tail": {"text": "gastric cancer", "start": 96, "end": 110}}]}}, "schema": []}
{"input": "Our aim was to establish a sensitive method which is able to identify all combinatorially possible EWSR1-FLI1 and EWSR1-ERG translocation transcripts in FFPE tissue samples despite significant RNA-degradation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 99, "end": 104}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.", "output": {"entities": {"gene": [{"text": "PIEZO2", "start": 67, "end": 73}], "disease": [{"text": "DA5", "start": 109, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIEZO2", "start": 67, "end": 73}, "tail": {"text": "DA5", "start": 109, "end": 112}}]}}, "schema": []}
{"input": "In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome.", "output": {"entities": {"gene": [{"text": "PORCN", "start": 26, "end": 31}], "disease": [{"text": "Goltz-Gorlin syndrome", "start": 67, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PORCN", "start": 26, "end": 31}, "tail": {"text": "Goltz-Gorlin syndrome", "start": 67, "end": 88}}]}}, "schema": []}
{"input": "Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.", "output": {"entities": {"gene": [{"text": "TACSTD2", "start": 47, "end": 54}], "disease": [{"text": "gelatinous drop-like corneal dystrophy", "start": 67, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TACSTD2", "start": 47, "end": 54}, "tail": {"text": "gelatinous drop-like corneal dystrophy", "start": 67, "end": 105}}]}}, "schema": []}
{"input": "In contrast, methylated ppENK and pi6 were not detected in 20 patients with non-malignant periampullary disease including 12 patients with chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "pi6", "start": 34, "end": 37}], "disease": [{"text": "chronic pancreatitis", "start": 139, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of leptin (ob) and leptin receptor (ob-R) genes in the rat heart following ischemia/reperfusion, which was induced by coronary artery ligation, and mRNA was obtained from hearts 0. 5 to 36 h after initiating reperfusion.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 46, "end": 61}], "disease": [{"text": "ischemia", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Tamoxifen treatment significantly accelerated Twist1 degradation in multiple cell lines including HEK293 human kidney cells, 4T1 and 168FARN mouse mammary tumor cells with either ectopically or endogenously expressed Twist1.", "output": {"entities": {"gene": [{"text": "Twist1", "start": 46, "end": 52}], "disease": [{"text": "mammary tumor", "start": 147, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Samples of sectors CA3/2 and CA1 were obtained from patients with schizophrenia, patients with bipolar disorder, and healthy controls.", "output": {"entities": {"gene": [{"text": "CA3", "start": 19, "end": 22}], "disease": [{"text": "schizophrenia", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Linkage analysis followed by association show NRG1 associated with cannabis dependence in African Americans.", "output": {"entities": {"gene": [{"text": "NRG1", "start": 46, "end": 50}], "disease": [{"text": "cannabis dependence", "start": 67, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRG1", "start": 46, "end": 50}, "tail": {"text": "cannabis dependence", "start": 67, "end": 86}}]}}, "schema": []}
{"input": "Content of DNA and telomerase as well as multi-gene expressions such as p53, p21 and cyclin D1 in esophageal precancer cells were quantitatively analysed by flow cytometry (FCM) with indirect immunofluorescence technique and DNA propidium iodide fluorescence staining.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 85, "end": 94}], "disease": [{"text": "esophageal", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The IGFBP3 promoter region was highly methylated in human melanoma samples as compared with normal nevi.", "output": {"entities": {"gene": [{"text": "IGFBP3", "start": 4, "end": 10}], "disease": [{"text": "nevi", "start": 99, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "By contrast, in the second patient who declined treatment, the Tat-specific CD8 (+) T cells disappeared below detection, in conjunction with Gag-specific CD4 (+) T cell loss, as plasma viremia reached a set point.", "output": {"entities": {"gene": [{"text": "CD4", "start": 154, "end": 157}], "disease": [{"text": "viremia", "start": 185, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "The translocation does not interrupt the transcriptional integrity of BCL3, but is associated with overexpression of this gene, which encodes an I kappa B-like protein and modulates the activity of the NF-kappa B transcription factors.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 70, "end": 74}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine whether hypoxia is an initiating factor in the matrix metalloproteinase-2 (MMP-2) up-regulation observed in abdominal aortic aneurysm (AAA) and whether hypoxia-inducible factor-1α (HIF-1α) or Ets-1 are mediating factors.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 215, "end": 220}], "disease": [{"text": "hypoxia", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Thus, pancreatitis risk is highest in individuals who have abnormalities in both the pancreatic ducts (CFTR) and acini (PSTI).", "output": {"entities": {"gene": [{"text": "PSTI", "start": 120, "end": 124}], "disease": [{"text": "abnormalities", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The chromogranin B (secretogranin I) belongs to a series of acidic secretory proteins that are widely expressed in endocrine and neuronal cells, and its cerebrospinal fluid levels have been reported to decrease in patients with chronic schizophrenia.", "output": {"entities": {"gene": [{"text": "chromogranin B", "start": 4, "end": 18}], "disease": [{"text": "chronic schizophrenia", "start": 228, "end": 249}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "chromogranin B", "start": 4, "end": 18}, "tail": {"text": "chronic schizophrenia", "start": 228, "end": 249}}]}}, "schema": []}
{"input": "Two SNPs (in NR1H4 and SMARCA2 in women only) were significantly associated with both BMI and waist circumference.", "output": {"entities": {"gene": [{"text": "NR1H4", "start": 13, "end": 18}], "disease": [{"text": "waist circumference", "start": 94, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy (P < 0. 001).", "output": {"entities": {"gene": [{"text": "SCP2", "start": 55, "end": 59}], "disease": [{"text": "narcolepsy", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the association between vascular endothelial growth factor (VEGF) gene polymorphisms and the risk of recurrent spontaneous abortion (RSA), a meta-analysis of published case-control studies for the VEGF gene polymorphisms (gene polymorphisms reported more than three times were selected) and the risk of RSA.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 72, "end": 76}], "disease": [{"text": "spontaneous abortion", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Here, we identify homozygous nonsense and missense mutations in the orphan gene C20orf72 in three families with a mitochondrial syndrome characterized by external ophthalmoplegia, emaciation and respiratory failure.", "output": {"entities": {"gene": [{"text": "C20orf72", "start": 80, "end": 88}], "disease": [{"text": "emaciation", "start": 180, "end": 190}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C20orf72", "start": 80, "end": 88}, "tail": {"text": "emaciation", "start": 180, "end": 190}}]}}, "schema": []}
{"input": "Individuals with one or two XRCC1 (R280H) variant alleles exhibited significantly higher TM values, and these differences were enhanced by alcohol consumption and aging, whereas smoking and poor HPI may cover up the differences.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 28, "end": 33}], "disease": [{"text": "smoking", "start": 178, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In cell and animal models, C-terminus-truncated DISC1 disrupts intracellular transport, neural architecture and migration, perhaps because it fails to interact with binding partners involved in neuronal differentiation such as fasciculation and elongation protein zeta-1 (FEZ1), platelet-activating factor acetylhydrolase, isoform Ib, PAFAH1B1 or lissencephaly 1 protein (LIS1) and nuclear distribution element-like (NUDEL).", "output": {"entities": {"gene": [{"text": "FEZ1", "start": 272, "end": 276}], "disease": [{"text": "lissencephaly 1", "start": 347, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, Epo increased the secretion of interleukin (IL)-4, IL-5, IL-6, IL-8, IL-10, IL-12, IL-13, GM-CSF and interferon-γ by A2780 cells that grew in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 103, "end": 109}], "disease": [{"text": "hypoxic", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the spermatogenic failure observed in infertile patients with SCO histology and elevated FSH serum levels can be explained neither by a change in FSH bioactivity nor by mutations in the FSHR.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 203, "end": 207}], "disease": [{"text": "infertile", "start": 55, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Strong membrane/cytoplasmic CA9 expression, noted in 20/75 (26. 6%) tumors, mainly occurred in tumors with very poor vascularization (expression in 63% versus 14%; P < 0. 0001), was located around areas of focal necrosis, and was related to poor complete response rate (40% versus 70%; P = 0. 02).", "output": {"entities": {"gene": [{"text": "CA9", "start": 28, "end": 31}], "disease": [{"text": "vascularization", "start": 117, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In both asymptomatic cases we found an increased number of SMN2 copies in the healthy carriers and a biallelic SMN1 absence.", "output": {"entities": {"gene": [{"text": "SMN2", "start": 59, "end": 63}], "disease": [{"text": "asymptomatic", "start": 8, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 51, "end": 79}], "disease": [{"text": "Gonadotropin-independent precocious puberty", "start": 0, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 51, "end": 79}, "tail": {"text": "Gonadotropin-independent precocious puberty", "start": 0, "end": 43}}]}}, "schema": []}
{"input": "This could elevate blood pressure by increasing the expression of WNK4 thereby stimulating inappropriate salt retention in the kidney by promoting activation of the NCC/NKCC2 ion co-transporters.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 169, "end": 174}], "disease": [{"text": "blood pressure", "start": 19, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "For the G × E interaction, the estimated OR of oral cancer for two (drinking-BQ chewing), three (XRCC1-XRCC2-BQ chewing), four (XRCC1-XRCC2-age-BQ chewing), and five factors (XRCC1-XRCC2-age-drinking-BQ chewing) were 32. 9 [95% CI = 14. 1-76. 9], 31. 0 [95% CI = 14. 0-64. 7], 49. 8 [95% CI = 21. 0-117. 7] and 82. 9 [95% CI = 31. 0-221. 5], respectively.", "output": {"entities": {"gene": [{"text": "XRCC2", "start": 103, "end": 108}], "disease": [{"text": "drinking", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS.", "output": {"entities": {"gene": [{"text": "LSS", "start": 115, "end": 118}], "disease": [{"text": "HS", "start": 197, "end": 199}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LSS", "start": 115, "end": 118}, "tail": {"text": "HS", "start": 197, "end": 199}}]}}, "schema": []}
{"input": "Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility.", "output": {"entities": {"gene": [{"text": "Dyx1c1", "start": 50, "end": 56}], "disease": [{"text": "male infertility", "start": 204, "end": 220}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dyx1c1", "start": 50, "end": 56}, "tail": {"text": "male infertility", "start": 204, "end": 220}}]}}, "schema": []}
{"input": "The DQw1c subtype, found in linkage disequilibrium with DR1, w10, w14, and some Pacific Island variants of DRw6 and DRw8, was significantly reduced in leprosy patients.", "output": {"entities": {"gene": [{"text": "DR1", "start": 56, "end": 59}], "disease": [{"text": "leprosy", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In the family with syndactyly type V, we identified a missense mutation in the HOXD13 homeodomain, c. 950A--& gt; G (p. Q317R), which leads to substitution of the highly conserved glutamine that is important for DNA-binding specificity and affinity.", "output": {"entities": {"gene": [{"text": "HOXD13", "start": 79, "end": 85}], "disease": [{"text": "syndactyly type V", "start": 19, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HOXD13", "start": 79, "end": 85}, "tail": {"text": "syndactyly type V", "start": 19, "end": 36}}]}}, "schema": []}
{"input": "We therefore speculated that the Aurora-A/STK15/BTAK gene, implicated in the regulation of centrosome duplication, may be associated with breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "BTAK", "start": 48, "end": 52}], "disease": [{"text": "tumorigenesis", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The differential expression of NPM1 along the normal colon-adenoma-carcinoma progression and its involvement in resisting p53 related senescent growth arrest in CRC cell lines implicate its role in supporting CRC tumorigenesis.", "output": {"entities": {"gene": [{"text": "NPM1", "start": 31, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.", "output": {"entities": {"gene": [{"text": "ASC", "start": 205, "end": 208}], "disease": [{"text": "albuminuria", "start": 33, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ASC", "start": 205, "end": 208}, "tail": {"text": "albuminuria", "start": 33, "end": 44}}]}}, "schema": []}
{"input": "Long-term blockade of AT1 receptors in chronic nephritis has beneficial effects both on albuminuria and blood pressure being as effective as ACE inhibition or their combination.", "output": {"entities": {"gene": [{"text": "ACE", "start": 141, "end": 144}], "disease": [{"text": "chronic nephritis", "start": 39, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Finally, engagement of GITR in NFATc2 ((-/-)) mice induced IFN-gamma levels in the airways, reversed the suppression by T (reg) cells, and costimulated effector CD4 (+) CD25 (+) (IL-2Ralpha) and memory CD4 (+) CD127 (+) (IL-7Ralpha) T cells, resulting in abrogation of carcinoma progression.", "output": {"entities": {"gene": [{"text": "CD4", "start": 161, "end": 164}], "disease": [{"text": "carcinoma", "start": 269, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "It indicates that MeCP2 may be an attractive target for human HCC.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 18, "end": 23}], "disease": [{"text": "HCC", "start": 62, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MeCP2", "start": 18, "end": 23}, "tail": {"text": "HCC", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.", "output": {"entities": {"gene": [{"text": "IGF-1", "start": 90, "end": 95}], "disease": [{"text": "autism", "start": 14, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-1", "start": 90, "end": 95}, "tail": {"text": "autism", "start": 14, "end": 20}}]}}, "schema": []}
{"input": "We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 15, "end": 20}], "disease": [{"text": "ICCA) syndrome", "start": 116, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRRT2", "start": 15, "end": 20}, "tail": {"text": "ICCA) syndrome", "start": 116, "end": 130}}]}}, "schema": []}
{"input": "The average relative risk for the development of systemic vasculitis in C3F homozygotes was 5. 1, indicating a gene dosage effect.", "output": {"entities": {"gene": [{"text": "C3F", "start": 72, "end": 75}], "disease": [{"text": "systemic vasculitis", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Three weeks later, the systolic pressure of the caudal artery was measured, catheterization through carotid artery was conducted to measure the systolic blood pressure (SBP) and diastolic blood pressure (DBP), and the left ventricular pressure curve was drawn.", "output": {"entities": {"gene": [{"text": "DBP", "start": 204, "end": 207}], "disease": [{"text": "systolic blood pressure", "start": 144, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The number of GAT-1-immunoreactive (ir) neurons was increased in several forebrain regions 24 h after induction of seizures by CRH as compared to the control group.", "output": {"entities": {"gene": [{"text": "GAT", "start": 14, "end": 17}], "disease": [{"text": "seizures", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These findings represent the first demonstration that the ITSN1-PI3K-C2β pathway has a requisite role in human cancer, specifically neuroblastomas.", "output": {"entities": {"gene": [{"text": "PI3K-C2β", "start": 64, "end": 72}], "disease": [{"text": "cancer", "start": 111, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Proximal symphalangism (SYM1) is an autosomal-dominant developmental disorder of joint fusion.", "output": {"entities": {"gene": [{"text": "SYM1", "start": 24, "end": 28}], "disease": [{"text": "developmental disorder", "start": 55, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The EMT of cancer cells induced by hypoxia was inhibited by treatment with LOX siRNA.", "output": {"entities": {"gene": [{"text": "LOX", "start": 75, "end": 78}], "disease": [{"text": "hypoxia", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested the leukocyte mRNA expression levels of genes belonging to glucocorticoid receptor (GR) function (FKBP-4, FKBP-5, and GR), inflammation (interleukin (IL)-1 & #945;, IL-1 & #946;, IL-4, IL-6, IL-7, IL-8, IL-10, macrophage inhibiting factor (MIF), and tumor necrosis factor (TNF)-& #945;), and neuroplasticity (brain-derived neurotrophic factor (BDNF), p11 and VGF), in healthy controls (n = 34) and depressed patients (n = 74), before and after 8 weeks of treatment with escitalopram or nortriptyline, as part of the Genome-based Therapeutic Drugs for Depression study.", "output": {"entities": {"gene": [{"text": "VGF", "start": 384, "end": 387}], "disease": [{"text": "Depression", "start": 576, "end": 586}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VGF", "start": 384, "end": 387}, "tail": {"text": "Depression", "start": 576, "end": 586}}]}}, "schema": []}
{"input": "The PTB cutoff value for association with grade 3-4 neutropenia occurrence was set at 0. 8 mg/dL.", "output": {"entities": {"gene": [{"text": "PTB", "start": 4, "end": 7}], "disease": [{"text": "neutropenia", "start": 52, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that the hypoxia induces HIF-1α expression, which in turn mediates the up-regulation of GPER and its downstream target CTGF in estrogen receptor-negative SkBr3 breast cancer cells and in HL-1 cardiomyocytes.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 140, "end": 144}], "disease": [{"text": "hypoxia", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In single variant analyses, untreated hypertensives, carrying the AGT-532T or-6A alleles had significantly higher systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as ambulatory BP values compared to respective non-carriers.", "output": {"entities": {"gene": [{"text": "DBP", "start": 174, "end": 177}], "disease": [{"text": "systolic blood pressure", "start": 114, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.", "output": {"entities": {"gene": [{"text": "SLC2A10", "start": 42, "end": 49}], "disease": [{"text": "ATS", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC2A10", "start": 42, "end": 49}, "tail": {"text": "ATS", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "One hundred and sixty four consecutive patients with thrombosis (42. 1% arterial (AT), 36% venous (VT), 4. 9% both venous and arterial thrombosis (AVT) and 17% unusual site (UST)) were included.", "output": {"entities": {"gene": [{"text": "UST", "start": 174, "end": 177}], "disease": [{"text": "arterial thrombosis", "start": 126, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We describe the case of a 10-year-old girl with chronic myelomonocytic leukaemia with the chromosomal translocation t (8; 9) (p11; q34), who had developed tonsillar lymphoma as extramedullary involvement at the initial presentation.", "output": {"entities": {"gene": [{"text": "p11", "start": 126, "end": 129}], "disease": [{"text": "chronic myelomonocytic leukaemia", "start": 48, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "PU. 1 levels were increased in hypoxic endothelium by RUNX-1 and C/EBPα.", "output": {"entities": {"gene": [{"text": "PU. 1", "start": 0, "end": 5}], "disease": [{"text": "hypoxic", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "The degree of short stature was related to the site of the mutation in the COMP gene, but there was no correlation between bony deformity and height or gene mutation.", "output": {"entities": {"gene": [{"text": "COMP gene", "start": 75, "end": 84}], "disease": [{"text": "height", "start": 142, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "MRI showed hypertrophy, predominantly at the apex of the heart.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "hypertrophy", "start": 11, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Pharmacological inhibition of cAMP-dependent protein kinase (PKA) and siRNA-mediated depletion of PKA greatly reduced B-Raf activity, ERK1/2 activation, and cell proliferation in (WT) B-Raf cells, whereas it did not affect (V600E) B-Raf cells, demonstrating a key role of PKA in mediating (WT) B-Raf/ERK signaling for uveal melanoma cell growth.", "output": {"entities": {"gene": [{"text": "ERK", "start": 134, "end": 137}], "disease": [{"text": "uveal melanoma", "start": 318, "end": 332}]}, "relations": {}}, "schema": []}
{"input": "The present study was undertaken to analyze the changes in the proportion of CD4 (+) CD25 (bright) regulatory T (Treg) cells and the expression of costimulatory molecules, CTLA-4 and CD28, in the peripheral blood and deciduas in the setting of non-pregnancy, normal early pregnancy and miscarriage.", "output": {"entities": {"gene": [{"text": "CD28", "start": 183, "end": 187}], "disease": [{"text": "miscarriage", "start": 286, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Expression of inhibitor of apoptosis protein (IAP) livin/BIRC7 in acute leukemia in adults: correlation with prognostic factors and outcome.", "output": {"entities": {"gene": [{"text": "IAP", "start": 46, "end": 49}], "disease": [{"text": "acute leukemia", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Glyoxylase 1 (GLO1) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between depression and anxiety.", "output": {"entities": {"gene": [{"text": "GLO1", "start": 14, "end": 18}], "disease": [{"text": "depression", "start": 183, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLO1", "start": 14, "end": 18}, "tail": {"text": "depression", "start": 183, "end": 193}}]}}, "schema": []}
{"input": "Despite their severe iron overload, the livers of Bmp6-deficient mice have low levels of phosphorylated Smad1, Smad5 and Smad8, and these Smads are not significantly translocated to the nucleus.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 104, "end": 109}], "disease": [{"text": "iron overload", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The findings show, for the first time in humans, that PEDF concentrations decrease significantly after weight loss in association with blood pressure.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 54, "end": 58}], "disease": [{"text": "blood pressure", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "TGF alpha and EGF are the ligands of the tumor cells that overexpress EGF receptor in esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "EGF", "start": 14, "end": 17}], "disease": [{"text": "esophageal", "start": 86, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.", "output": {"entities": {"gene": [{"text": "ARNT", "start": 87, "end": 91}], "disease": [{"text": "ALL", "start": 52, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARNT", "start": 87, "end": 91}, "tail": {"text": "ALL", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "After ischemia, GADD34 protein levels were significantly increased in the cortex but not in the CA1 subfield, and these changes occurred earlier in SOD1 transgenic than in wild-type animals.", "output": {"entities": {"gene": [{"text": "CA1", "start": 96, "end": 99}], "disease": [{"text": "ischemia", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "The prenatal diagnosis (PND) of severe hereditary skin diseases started in the early 1980s using fetal skin biopsy techniques based on ultrastructural and immunohistochemical abnormalities of the fetal skin.", "output": {"entities": {"gene": [{"text": "PND", "start": 24, "end": 27}], "disease": [{"text": "abnormalities", "start": 175, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We report a comparative analysis of the connections among 5-HT2CR editing, genome-wide gene expression and DNA methylation in suicide victims, individuals with major depressive disorder and non-psychiatric controls.", "output": {"entities": {"gene": [{"text": "5-HT2CR", "start": 58, "end": 65}], "disease": [{"text": "major depressive disorder", "start": 160, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2CR", "start": 58, "end": 65}, "tail": {"text": "major depressive disorder", "start": 160, "end": 185}}]}}, "schema": []}
{"input": "Furthermore, the authors examined the alterations of other mitotic checkpoint genes, BUBR1, BUB3, MAD2B, and CDC20, using direct sequencing in HCC cell lines with aneuploidy.", "output": {"entities": {"gene": [{"text": "BUB3", "start": 92, "end": 96}], "disease": [{"text": "aneuploidy", "start": 163, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "We have assessed evidence for linkage and association involving polymorphisms in 10 circadian clock genes (ARNTL, CLOCK, CRY2, CSNK1epsilon, DBP, GSK3beta, NPAS2, PER1, PER2, and PER3) to BPAD.", "output": {"entities": {"gene": [{"text": "NPAS2", "start": 156, "end": 161}], "disease": [{"text": "BPAD", "start": 188, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS2", "start": 156, "end": 161}, "tail": {"text": "BPAD", "start": 188, "end": 192}}]}}, "schema": []}
{"input": "Barth syndrome is an X-linked disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, organic aciduria, and growth retardation caused by mutations in tafazzin.", "output": {"entities": {"gene": [{"text": "tafazzin", "start": 168, "end": 176}], "disease": [{"text": "organic aciduria", "start": 104, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We performed routine karyotyping, IGF2 gene sequencing and investigated DNA methylation of the IGF2 differentially methylated region (DMR) 0 and H19 DMR using pyrosequencing, in four women selected for very low birth weight (<-3 SDS for gestational age), precocious pubarche, short adult stature (<-2 SDS), and insulin resistance (defined as HOMA-IS < 80%); and compared their methylation results to those of 95 control subjects.", "output": {"entities": {"gene": [{"text": "IGF2", "start": 34, "end": 38}], "disease": [{"text": "stature", "start": 288, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "TRL-01 had the same immunophenotype as the original leukemia cells: positive for CD13, CD33, CD11a, CD18, CD29, CD49d, CD49e, CD54, CD62L, and CD117, and negative for CD3, CD4, CD8, CD19, CD34, CD41a, CD41b, CD135, and myeloperoxidase.", "output": {"entities": {"gene": [{"text": "CD4", "start": 112, "end": 115}], "disease": [{"text": "leukemia", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The CYP1B1 codon 432 polymorphism (CYP1B1 * 3) has been identified as a susceptibility factor in smoking-related head-and-neck squameous cell cancer.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 4, "end": 10}], "disease": [{"text": "smoking", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrated that NAT activity percent of NAT in examined cells, gene expression (NAT1 mRNA) and AF-DNA adduct formation in human osteogenic sarcoma cells were inhibited and decreased by paclitaxel in a dose-dependent manner.", "output": {"entities": {"gene": [{"text": "NAT1", "start": 94, "end": 98}], "disease": [{"text": "osteogenic sarcoma", "start": 142, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Interlaboratory trials on rabies diagnosis were organised in 2009 and in 2010 by the European Union Reference Laboratory (EURL) for rabies.", "output": {"entities": {"gene": [{"text": "EURL", "start": 122, "end": 126}], "disease": [{"text": "rabies", "start": 26, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The re-expression of CADM2 in the renal cancer cell line 786-O significantly suppressed tumor cell growth in vitro and in mouse xenografts by a G1 phase cell cycle arrest and the induction of apoptosis.", "output": {"entities": {"gene": [{"text": "CADM2", "start": 21, "end": 26}], "disease": [{"text": "renal cancer", "start": 34, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "We found elevated LPO-induced DNA damage in the liver of thalassemic mouse and in lymphocytes, implicating that massive DNA damage occurs in the liver of thalassemia patients.", "output": {"entities": {"gene": [{"text": "LPO", "start": 18, "end": 21}], "disease": [{"text": "thalassemia", "start": 154, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "OVOL2 was also expressed in pilomatricoma, with only partial expression of OVOL1.", "output": {"entities": {"gene": [{"text": "OVOL2", "start": 0, "end": 5}], "disease": [{"text": "pilomatricoma", "start": 28, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OVOL2", "start": 0, "end": 5}, "tail": {"text": "pilomatricoma", "start": 28, "end": 41}}]}}, "schema": []}
{"input": "Transcriptional targeted suicide gene (SG) therapy driven by the insulinoma-associated 1 (INSM1) promoter makes it possible to target suicide toxin production and cytotoxicity exclusively to small cell lung cancer (SCLC) cells and tumors.", "output": {"entities": {"gene": [{"text": "INSM1", "start": 90, "end": 95}], "disease": [{"text": "suicide", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "A defining characteristic of DSRCT is a specific chromosomal translocation, t (11; 22) (p13; q12), that fuses EWS with WT1, leading to a production of two isoforms of chimeric transcription factor, EWS/WT1 (-KTS) and EWS/WT1 (+ KTS).", "output": {"entities": {"gene": [{"text": "EWS", "start": 110, "end": 113}], "disease": [{"text": "chromosomal translocation", "start": 49, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Thus, APC2 is a crucial target of NSD1, which provides an explanation for the intellectual disability associated with Sotos syndrome.", "output": {"entities": {"gene": [{"text": "APC2", "start": 6, "end": 10}], "disease": [{"text": "Sotos syndrome", "start": 118, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APC2", "start": 6, "end": 10}, "tail": {"text": "Sotos syndrome", "start": 118, "end": 132}}]}}, "schema": []}
{"input": "In mice mimicking human allergic bronchopulmonary aspergillosis, SP-A and SP-D suppressed IgE levels, eosinophilia, pulmonary cellular infiltration and cause a marked shift from a pathogenic Th2 to a protective Th1 cytokine profile.", "output": {"entities": {"gene": [{"text": "SP-D", "start": 74, "end": 78}], "disease": [{"text": "allergic bronchopulmonary aspergillosis", "start": 24, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to explore the genetic polymorphisms and serum protein levels of MBL in Chinese pediatric patients with common infectious diseases, including recurrent respiratory infection (RRI), acute respiratory infection (ARI), active cytomegalovirus (CMV) infection, localized abscess, and otitis media.", "output": {"entities": {"gene": [{"text": "ARI", "start": 242, "end": 245}], "disease": [{"text": "otitis media", "start": 311, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "Antagonism of P2Y12 or GPIIb/IIIa receptors reduces platelet-mediated myocardial injury after ischaemia and reperfusion in isolated rat hearts.", "output": {"entities": {"gene": [{"text": "P2Y12", "start": 14, "end": 19}], "disease": [{"text": "ischaemia", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Taken together, in the absence of information on human papillomavirus (HPV) infection, the TNFAIP8-rs11064 SNP may function by affecting the affinity of miR-22 binding to the 3'-UTR of TNFAIP8 and regulating TNFAIP8 expression, thus contributing to cervical cancer risk.", "output": {"entities": {"gene": [{"text": "UTR", "start": 178, "end": 181}], "disease": [{"text": "cervical cancer", "start": 249, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.", "output": {"entities": {"gene": [{"text": "cystic fibrosis transmembrane conductance regulator", "start": 47, "end": 98}], "disease": [{"text": "CF", "start": 119, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cystic fibrosis transmembrane conductance regulator", "start": 47, "end": 98}, "tail": {"text": "CF", "start": 119, "end": 121}}]}}, "schema": []}
{"input": "The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.", "output": {"entities": {"gene": [{"text": "GH receptor", "start": 86, "end": 97}], "disease": [{"text": "Laron syndrome", "start": 106, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GH receptor", "start": 86, "end": 97}, "tail": {"text": "Laron syndrome", "start": 106, "end": 120}}]}}, "schema": []}
{"input": "Of the more than 200 genes upregulated by these treatments, three of these, neuronatin, metallothionein 3 and cystatin E/M, were frequently hypermethylated and transcriptionally downregulated in NSCLC cell lines and tumors.", "output": {"entities": {"gene": [{"text": "metallothionein 3", "start": 88, "end": 105}], "disease": [{"text": "NSCLC", "start": 195, "end": 200}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "metallothionein 3", "start": 88, "end": 105}, "tail": {"text": "NSCLC", "start": 195, "end": 200}}]}}, "schema": []}
{"input": "Lpin1 (1Hubr) rats developed hypomyelination and mild lipodystrophy rather than the pronounced demyelination and adipocyte defects characteristic of Lpin1 (fld/fld) mice, which carry a null allele for Lpin1.", "output": {"entities": {"gene": [{"text": "Lpin1", "start": 0, "end": 5}], "disease": [{"text": "mild", "start": 49, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of an impaired TPO gene expression in the pathogenesis of thrombocytopenia in pediatric patients suffering from liver failure, we measured hepatic TPO mRNA in children with acute or chronic end-stage liver disease undergoing orthotopic liver transplantation.", "output": {"entities": {"gene": [{"text": "TPO", "start": 39, "end": 42}], "disease": [{"text": "end-stage liver disease", "start": 214, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, IFITM1 knockdown significantly inhibited migration and invasion of glioma cells, which could be attributed to decreased expression and enzymatic activity of matrix metalloproteinase 9.", "output": {"entities": {"gene": [{"text": "IFITM1", "start": 13, "end": 19}], "disease": [{"text": "glioma", "start": 80, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The administration of the anti-Mac-1-saporin antibody or the neutralizing anti-IL-18 antibody resulted in a dramatic attenuation of mucosal inflammation in this model.", "output": {"entities": {"gene": [{"text": "Mac-1", "start": 31, "end": 36}], "disease": [{"text": "mucosal inflammation", "start": 132, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "OCTN2 expression is selectively reduced in dilated cardiomyopathy patients and predicts the impairment of cardiac function.", "output": {"entities": {"gene": [{"text": "OCTN2", "start": 0, "end": 5}], "disease": [{"text": "dilated cardiomyopathy", "start": 43, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OCTN2", "start": 0, "end": 5}, "tail": {"text": "dilated cardiomyopathy", "start": 43, "end": 65}}]}}, "schema": []}
{"input": "Moreover, they provide additional in vivo evidence that C3a and C5a have divergent biological functions in Gram-negative bacteremia and shock.", "output": {"entities": {"gene": [{"text": "C3a", "start": 56, "end": 59}], "disease": [{"text": "shock", "start": 136, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.", "output": {"entities": {"gene": [{"text": "GNA13", "start": 90, "end": 95}], "disease": [{"text": "Burkitt lymphomas", "start": 56, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNA13", "start": 90, "end": 95}, "tail": {"text": "Burkitt lymphomas", "start": 56, "end": 73}}]}}, "schema": []}
{"input": "Together these findings identify germline ESR2 mutation as a novel cause of familial MTC/CCH and provide important insights into a novel mechanism causing increased RET expression in tumourigenesis.", "output": {"entities": {"gene": [{"text": "ESR2", "start": 42, "end": 46}], "disease": [{"text": "MTC", "start": 85, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ESR2", "start": 42, "end": 46}, "tail": {"text": "MTC", "start": 85, "end": 88}}]}}, "schema": []}
{"input": "A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 22, "end": 26}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 59, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 22, "end": 26}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 59, "end": 94}}]}}, "schema": []}
{"input": "The findings provide the first evidence of an overactive Stat1-dependent gene network in asthmatic airways and a novel molecular link between mucosal immunity and inflammation.", "output": {"entities": {"gene": [{"text": "Stat1", "start": 57, "end": 62}], "disease": [{"text": "inflammation", "start": 163, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In addition, her husband was found to be an asymptomatic carrier of GAS in his oropharynx.", "output": {"entities": {"gene": [{"text": "GAS", "start": 68, "end": 71}], "disease": [{"text": "asymptomatic", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Stratified analysis by occupational exposure showed a significant MN increase with smoking in occupationally exposed carriers of the Arg/Gln XRCC1 (399) genotype (P < 0. 001).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 141, "end": 146}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Our data implied the involvement of the ifngr1 gene in susceptibility to tuberculosis.", "output": {"entities": {"gene": [{"text": "ifngr1 gene", "start": 40, "end": 51}], "disease": [{"text": "susceptibility to tuberculosis", "start": 55, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "A small transient bradycardia was observed after i. c. v. administration of 10 micrograms of beta-endorphin (1-26), alpha, and gamma-endorphin.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 93, "end": 107}], "disease": [{"text": "bradycardia", "start": 18, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-endorphin", "start": 93, "end": 107}, "tail": {"text": "bradycardia", "start": 18, "end": 29}}]}}, "schema": []}
{"input": "There is a considerable amount of evidence supporting a role for the 5-HT (7) receptor in depression.", "output": {"entities": {"gene": [{"text": "5-HT (7", "start": 69, "end": 76}], "disease": [{"text": "depression", "start": 90, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (7", "start": 69, "end": 76}, "tail": {"text": "depression", "start": 90, "end": 100}}]}}, "schema": []}
{"input": "Whereas specific inhibition of mimitin expression did not affect cell proliferation in human cervical carcinoma, colon adenocarcinoma, and hepatocarcinoma cell lines, it did suppress cell proliferation in human glioblastoma, esophageal squamous cell carcinoma (ESCC), and embryonic lung fibroblastic cells, with the greatest suppression efficiency in ESCC cells.", "output": {"entities": {"gene": [{"text": "mimitin", "start": 31, "end": 38}], "disease": [{"text": "hepatocarcinoma", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Structural equation modeling showed that the covariation among EDR lability measures and resistance to specific EDR habituation operated through a single latent phenotype, which was influenced in approximately equal measure by genetic and unique environmental factors.", "output": {"entities": {"gene": [{"text": "EDR", "start": 63, "end": 66}], "disease": [{"text": "habituation", "start": 116, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Another TG mouse model expressing a constitutively activating mutant form of the follicle-stimulating hormone receptor (FSHR) presents with a strong ovarian phenotype inducing advanced follicular development and depletion, haemorrhagic follicles, teratomas and infertility.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 120, "end": 124}], "disease": [{"text": "infertility", "start": 261, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier analysis of all 148 premutations showed that the age at menopause was significantly lower in the women with a PIP than in the woman with a MIP (Breslow test in Kaplan-Meier analysis; P =. 003).", "output": {"entities": {"gene": [{"text": "PIP", "start": 123, "end": 126}], "disease": [{"text": "age at menopause", "start": 62, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "As a consequence of perturbed CNP expression, mice show secondary low-grade inflammation/neurodegeneration.", "output": {"entities": {"gene": [{"text": "CNP", "start": 30, "end": 33}], "disease": [{"text": "inflammation", "start": 76, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We aimed to determine the association between variation of the tumor necrosis factor (TNF)-alpha gene and the risk for chronic atrophic gastritis (CAG) and GC.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 91, "end": 101}], "disease": [{"text": "chronic atrophic gastritis", "start": 119, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We genotyped p53 codon 72 in 193 individuals with Lynch syndrome mutations, 93 patients with sporadic microsatellite unstable colorectal cancer, and 93 patients with sporadic microsatellite stable colorectal cancer from Finland and 323 Finnish controls.", "output": {"entities": {"gene": [{"text": "p53", "start": 13, "end": 16}], "disease": [{"text": "sporadic", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Common polymorphisms in interleukin genes (IL4, IL6, IL8 and IL12) are not associated with alcoholic liver disease or alcoholism in Spanish men.", "output": {"entities": {"gene": [{"text": "IL6", "start": 48, "end": 51}], "disease": [{"text": "alcoholism", "start": 118, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL6", "start": 48, "end": 51}, "tail": {"text": "alcoholism", "start": 118, "end": 128}}]}}, "schema": []}
{"input": "Thus, these data provides evidence to the existence of an aberrant IL-6/STAT3/lncTCF7 signaling axis that leads to HCC aggressiveness through EMT induction, which could be novel therapeutic targets in malignancies.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 67, "end": 71}], "disease": [{"text": "aggressiveness", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The activins interact with heterodimeric serine/threonine kinase receptor complexes to activate SMAD transcription factors and the MAP kinase signaling pathways, which mediate inflammation, stress, and immunity.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 41, "end": 64}], "disease": [{"text": "inflammation", "start": 176, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "To examine whether genetic variability at the GCKR gene locus was associated with the degree of insulin resistance, plasma concentrations of C-reactive protein (CRP) and n-3 PUFA in MetS subjects.", "output": {"entities": {"gene": [{"text": "CRP", "start": 161, "end": 164}], "disease": [{"text": "insulin resistance", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Different types of cortical abnormalities, cerebellar vermis hypoplasia, and optic nerve hypoplasia/atrophy were detected on MRI.", "output": {"entities": {"gene": [{"text": "MRI", "start": 125, "end": 128}], "disease": [{"text": "optic nerve hypoplasia", "start": 77, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Based on the current results, it seems that chronic inflammation in depressed patients correlates to the over expression of TRIF and MYD88 genes.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 124, "end": 128}], "disease": [{"text": "depressed", "start": 68, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIF", "start": 124, "end": 128}, "tail": {"text": "depressed", "start": 68, "end": 77}}]}}, "schema": []}
{"input": "We postulate that IL-6 may play a role in the clinical aggressiveness of human NHL by stimulating MMP production.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 18, "end": 22}], "disease": [{"text": "aggressiveness", "start": 55, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The effects of APOE, Hfe, and AAT on glucose, lipid, iron and trace mineral homeostasis may affect normal development and aging of the nervous system in addition to their effects on outcome of toxic environmental and occupational exposures and susceptibility and outcome of neurodegenerative illnesses.", "output": {"entities": {"gene": [{"text": "APOE", "start": 15, "end": 19}], "disease": [{"text": "nervous system", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "There was no correlation between plasma post-heparin LPL activity/mass and postprandial triglycerides nor with insulin resistance.", "output": {"entities": {"gene": [{"text": "LPL", "start": 53, "end": 56}], "disease": [{"text": "insulin resistance", "start": 111, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants in CASP3, BMP5, and IRS2 genes may influence survival in prostate cancer patients receiving androgen-deprivation therapy.", "output": {"entities": {"gene": [{"text": "BMP5", "start": 27, "end": 31}], "disease": [{"text": "prostate cancer", "start": 74, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Conflicting results of an association of the human platelet antigen 1b (HPA-1b/PlA2), localized on the beta-subunit of the integrin alpha (IIb) beta3, and the alpha (2) 807TT genotype of the integrin alpha2beta1 with coronary atherosclerosis and myocardial infarction have been reported.", "output": {"entities": {"gene": [{"text": "beta3", "start": 144, "end": 149}], "disease": [{"text": "coronary atherosclerosis", "start": 217, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.", "output": {"entities": {"gene": [{"text": "EVC", "start": 97, "end": 100}], "disease": [{"text": "Ellis van Creveld syndrome", "start": 26, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC", "start": 97, "end": 100}, "tail": {"text": "Ellis van Creveld syndrome", "start": 26, "end": 52}}]}}, "schema": []}
{"input": "PSF is essential for translocation of NF-κB and ERK to the nucleus.", "output": {"entities": {"gene": [{"text": "PSF", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "To dissect immunological mechanisms responsible for immune tolerance toward leukemia, we established a murine model system allowing clonotypic analysis of leukemia-specific CD4 T cells recognizing ovalbumin (OVA).", "output": {"entities": {"gene": [{"text": "CD4", "start": 173, "end": 176}], "disease": [{"text": "leukemia", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the \" AP2-like \" sequence does not play such a role in regulation of the CR gene transcription in adenocarcinoma and mesothelioma cancer cells.", "output": {"entities": {"gene": [{"text": "AP2", "start": 19, "end": 22}], "disease": [{"text": "mesothelioma", "start": 130, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.", "output": {"entities": {"gene": [{"text": "ATM", "start": 34, "end": 37}], "disease": [{"text": "ataxia telangiectasia", "start": 66, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 34, "end": 37}, "tail": {"text": "ataxia telangiectasia", "start": 66, "end": 87}}]}}, "schema": []}
{"input": "Histological study revealed that loss of CA1 and CA3 pyramidal neurons after ischemia was marked in GFAP (-/-).", "output": {"entities": {"gene": [{"text": "CA1", "start": 41, "end": 44}], "disease": [{"text": "ischemia", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.", "output": {"entities": {"gene": [{"text": "uroporphyrinogen decarboxylase", "start": 21, "end": 51}], "disease": [{"text": "mild", "start": 70, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "It is caused by generalized hyperplasia of the juxtaglomerular apparatus at the site of renin production caused by mutations in the Na-K-2Cl cotransporter gene, NKCC2.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 161, "end": 166}], "disease": [{"text": "hyperplasia", "start": 28, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "In the atopic asthmatics, the expression of IL-13 was significantly greater than that for IL-4 (p <. 01).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 44, "end": 49}], "disease": [{"text": "atopic", "start": 7, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "We studied the influence of genotype on systemic autoimmunity by treating female mice of the H-2s strains SJL/N, SJL/J, A. SW, and B10. S with mercuric chloride (HgCl2) for 10 weeks and then following autoantibody and tissue immune deposits during the subsequent 12 months.", "output": {"entities": {"gene": [{"text": "B10", "start": 131, "end": 134}], "disease": [{"text": "autoimmunity", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "VEGF in the non-neoplastic compartment showed increased staining in Ann Arbor stage I-II versus III-IV.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 0, "end": 4}], "disease": [{"text": "non-neoplastic", "start": 12, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We found that the transcriptional activity of the gene is affected by the number of 33-bp repeats, which include an Sp1 binding site, suggesting that the excessive expression of Syt11 can be associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "Syt11", "start": 178, "end": 183}], "disease": [{"text": "schizophrenia", "start": 207, "end": 220}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Syt11", "start": 178, "end": 183}, "tail": {"text": "schizophrenia", "start": 207, "end": 220}}]}}, "schema": []}
{"input": "The molecular basis for one of these mutations, (ARG) 531 (HIS), is an increased rate of A2 subunit dissociation.", "output": {"entities": {"gene": [{"text": "ARG", "start": 49, "end": 52}], "disease": [{"text": "dissociation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We further identify FAK-dependent activation of p90 ribosomal S6 kinase family proteins (RSK) as a crucial mediator of oxLDL-dependent IKKβ and NF-κB signaling, as inhibiting RSK blocks oxLDL-induced IKKβ and NF-κB activation, VCAM-1 expression and monocyte adhesion.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 144, "end": 149}], "disease": [{"text": "adhesion", "start": 258, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, these data suggest that in heart failure, the functional Arg16Gly and Gln27Glu variants of the beta2-AR gene have no independent effect on adverse structural remodeling and pump function.", "output": {"entities": {"gene": [{"text": "beta2", "start": 110, "end": 115}], "disease": [{"text": "heart failure", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We report here that centrally and peripherally administered GLP-1R agonists dose-dependently increased blood pressure and heart rate.", "output": {"entities": {"gene": [{"text": "GLP-1R", "start": 60, "end": 66}], "disease": [{"text": "blood pressure", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The EWS/FLI1 translocations were detected in 7/8 (87. 5%) ESFTs cases, whereas non of 8 cPNET cases were detected with this translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The study investigated the possible influence of GSTM1, GSTT1, and GSTP1 gene polymorphisms as predisposing factors for premalignant gastric lesions as well as their interaction with H. pylori infection, gastrotoxic drugs, smoking, and alcohol consumption.", "output": {"entities": {"gene": [{"text": "GSTP1 gene", "start": 67, "end": 77}], "disease": [{"text": "alcohol consumption", "start": 236, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Further, high plasma levels of HMGB1 correlate with poor prognosis and increased mortality in patients with severe inflammation.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 31, "end": 36}], "disease": [{"text": "inflammation", "start": 115, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGB1", "start": 31, "end": 36}, "tail": {"text": "inflammation", "start": 115, "end": 127}}]}}, "schema": []}
{"input": "During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.", "output": {"entities": {"gene": [{"text": "CCR9", "start": 100, "end": 104}], "disease": [{"text": "status epilepticus", "start": 37, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR9", "start": 100, "end": 104}, "tail": {"text": "status epilepticus", "start": 37, "end": 55}}]}}, "schema": []}
{"input": "Here, we identified ubiquitously transcribed tetratricopeptide repeat on chromosome X (UTX), a histone demethylase involved in demethylating di-or tri-methylated histone 3 lysine 27 (H3K27me2/3), as a positive regulator for the expression of E-cadherin in the colon cancer cell line HCT-116.", "output": {"entities": {"gene": [{"text": "UTX", "start": 87, "end": 90}], "disease": [{"text": "colon cancer", "start": 260, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "While it is well established that tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) induces apoptosis in various cell types, the role of TRAIL in regulation of retinal neovascularization (NV) has not been described.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 91, "end": 96}], "disease": [{"text": "retinal neovascularization", "start": 174, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Five patient groups with fucosidosis were selected according to their ethnic backgrounds and haplotypes for RFLPs in FUCA-1.", "output": {"entities": {"gene": [{"text": "FUCA-1", "start": 117, "end": 123}], "disease": [{"text": "fucosidosis", "start": 25, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FUCA-1", "start": 117, "end": 123}, "tail": {"text": "fucosidosis", "start": 25, "end": 36}}]}}, "schema": []}
{"input": "Following treatment of the glioblastoma cells with GHRH antagonists, nuclear translocation of apoptosis inducing factor (AIF) and Endonuclease G (Endo G) and the mitochondrial release of cytochrome c (cyt c) were detected, indicating that the cells were undergoing apoptosis.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 187, "end": 199}], "disease": [{"text": "glioblastoma", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The significance of the translocation and the coexistence of CD10 and CD13 on the same cell are discussed.", "output": {"entities": {"gene": [{"text": "CD13", "start": 70, "end": 74}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Normal kidneys, thin basement membrane nephropathy, and minimal change disease were negative for the three TGF-beta isoforms and Tat.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 107, "end": 115}], "disease": [{"text": "minimal change disease", "start": 56, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Here, we compared the location of centromeric breaks associated with whole arm translocations in seven adenocarcinoma cell lines and nine squamous cell carcinoma cell lines using SKY, microarray-based comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH).", "output": {"entities": {"gene": [{"text": "FISH", "start": 287, "end": 291}], "disease": [{"text": "squamous cell carcinoma", "start": 138, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Fatty acid binding proteins (FABP-4/aP2) and CD36 expression are key factors in lipid accumulation in macrophages and foam cell formation in atherogenesis.", "output": {"entities": {"gene": [{"text": "CD36", "start": 45, "end": 49}], "disease": [{"text": "atherogenesis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Importantly, adhesion of ovarian carcinoma cells to human peritoneal mesothelial cells was dependent on CX (3) CL1/CX (3) CR1 signaling.", "output": {"entities": {"gene": [{"text": "CL1", "start": 111, "end": 114}], "disease": [{"text": "ovarian carcinoma", "start": 25, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we studied the induction of Th1 (TNF-alpha, IFN-gamma, IL-1beta and IL-2), Th2 (IL-4), IL-10 cytokines and adhesion molecule sICAM-1 in the lymphocytes isolated from symptomatic and asymptomatic NCC cases by stimulating them with Taenia solium cyst fluid antigens.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 91, "end": 95}], "disease": [{"text": "asymptomatic", "start": 193, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "These suggested that miRNA-200c regulated the sensitivity of chemotherapy to cisplatin (DDP) in gastric cancer by possibly targeting RhoE.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 133, "end": 137}], "disease": [{"text": "gastric cancer", "start": 96, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Glutathione S-transferases (GST) modulate the effects of exposure to various cytotoxic and genotoxic agents, including those associated with increased risks of the myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML) and aplastic anemia (AA).", "output": {"entities": {"gene": [{"text": "GST", "start": 28, "end": 31}], "disease": [{"text": "anemia", "start": 239, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "The role of hypoxia was shown by the fact that hypoxia-inducible factor (HIF)-1α silencing downregulated RAGE and P2X7R protein levels as well as nuclear factor-kappaB (NF-κB) expression.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 105, "end": 109}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24.", "output": {"entities": {"gene": [{"text": "DHCR24", "start": 104, "end": 110}], "disease": [{"text": "desmosterolosis", "start": 26, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DHCR24", "start": 104, "end": 110}, "tail": {"text": "desmosterolosis", "start": 26, "end": 41}}]}}, "schema": []}
{"input": "An antiserum prepared against a peptide deduced from the Dio2 mRNA sequence precipitates a (75) Se protein of the predicted 31-kDa size from (75) Se-labeled mesothelioma cells.", "output": {"entities": {"gene": [{"text": "Dio2", "start": 57, "end": 61}], "disease": [{"text": "mesothelioma", "start": 157, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dio2", "start": 57, "end": 61}, "tail": {"text": "mesothelioma", "start": 157, "end": 169}}]}}, "schema": []}
{"input": "Patients with B27-JA should be screened for the presence of aortic regurgitation.", "output": {"entities": {"gene": [{"text": "B27", "start": 14, "end": 17}], "disease": [{"text": "aortic regurgitation", "start": 60, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "OPN gene and protein expression is induced in both proximal and distal tubular cells during rat toxic ARF.", "output": {"entities": {"gene": [{"text": "OPN", "start": 0, "end": 3}], "disease": [{"text": "ARF", "start": 102, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OPN", "start": 0, "end": 3}, "tail": {"text": "ARF", "start": 102, "end": 105}}]}}, "schema": []}
{"input": "Recent reports suggested that lipocalin-type prostaglandin D synthase (L-PGDS) is implicated in atherogenesis.", "output": {"entities": {"gene": [{"text": "L-PGDS", "start": 71, "end": 77}], "disease": [{"text": "atherogenesis", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Mutations in WNT10B Are Identified in Individuals with Oligodontia.", "output": {"entities": {"gene": [{"text": "WNT10B", "start": 13, "end": 19}], "disease": [{"text": "Oligodontia", "start": 55, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT10B", "start": 13, "end": 19}, "tail": {"text": "Oligodontia", "start": 55, "end": 66}}]}}, "schema": []}
{"input": "The pineocytomas showed high expression of TPH, HIOMT, and genes related to phototransduction in the retina (OPN4, RGS16, and CRB3), whereas the pineoblastoma showed high expression of UBEC2, SOX4, TERT, TEP1, PRAME, CD24, POU4F2, and HOXD13.", "output": {"entities": {"gene": [{"text": "HOXD13", "start": 235, "end": 241}], "disease": [{"text": "pineoblastoma", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and autoimmune diseases.", "output": {"entities": {"gene": [{"text": "PRF1", "start": 21, "end": 25}], "disease": [{"text": "secondary", "start": 100, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "miR-142-3p down-regulation contributes to thyroid follicular tumorigenesis by targeting ASH1L and MLL1.", "output": {"entities": {"gene": [{"text": "MLL1", "start": 98, "end": 102}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Patients with mutations in IRAK4 or MYD88 suffer from pyogenic bacterial diseases, including invasive pneumococcal diseases in particular.", "output": {"entities": {"gene": [{"text": "MYD88", "start": 36, "end": 41}], "disease": [{"text": "pneumococcal diseases", "start": 102, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Mutations in cartilage oligomeric matrix protein (COMP) produce clinical phenotypes ranging from the severe end of the spectrum, pseudoachondroplasia (PSACH), which is a dwarfing condition, to a mild condition, multiple epiphyseal dysplasia (MED).", "output": {"entities": {"gene": [{"text": "MED", "start": 242, "end": 245}], "disease": [{"text": "mild", "start": 195, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Mean MBL levels were compared between genotypic groups and multivariate regression was used to determine other independent factors influencing MBL2 expression.", "output": {"entities": {"gene": [{"text": "MBL2", "start": 143, "end": 147}], "disease": [{"text": "regression", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Class comparison analysis by significance analysis of microarrays on a subset of CLL samples (n = 14) indicated that a number of cell surface receptor and adhesion related genes were under-expressed in the 11q22. 3 deletion group (CD44, CD11a, PTPRC, CD79a, chemokine ligand 17 and chemokine receptor type 6).", "output": {"entities": {"gene": [{"text": "CD11a", "start": 237, "end": 242}], "disease": [{"text": "adhesion", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the emergence of polyploid endothelial cells during replicative aging and glucose overload can be prevented by optimizing the Nampt-SIRT1 axis.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 142, "end": 147}], "disease": [{"text": "polyploid", "start": 27, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "This study analysed changes in the expression of genes associated with skin barrier dysfunction in atopic dermatitis (AD) skin lesions after 2 weeks of exposure to PIM 1% cream.", "output": {"entities": {"gene": [{"text": "PIM", "start": 164, "end": 167}], "disease": [{"text": "skin lesions", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "There was no evidence of BAX mutation in the other cancers, nor was somatic mutation of the BAK gene detected in the cancers.", "output": {"entities": {"gene": [{"text": "BAX", "start": 25, "end": 28}], "disease": [{"text": "somatic mutation", "start": 68, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Expression of HOXA10 in endometrial hyperplasia and adenocarcinoma and regulation by sex hormones in vitro.", "output": {"entities": {"gene": [{"text": "HOXA10", "start": 14, "end": 20}], "disease": [{"text": "adenocarcinoma", "start": 52, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXA10", "start": 14, "end": 20}, "tail": {"text": "adenocarcinoma", "start": 52, "end": 66}}]}}, "schema": []}
{"input": "We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy.", "output": {"entities": {"gene": [{"text": "MYPN", "start": 47, "end": 51}], "disease": [{"text": "cap myopathy", "start": 113, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYPN", "start": 47, "end": 51}, "tail": {"text": "cap myopathy", "start": 113, "end": 125}}]}}, "schema": []}
{"input": "Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16. 3 that cause cherubism.", "output": {"entities": {"gene": [{"text": "SH3BP2", "start": 60, "end": 66}], "disease": [{"text": "cherubism", "start": 113, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH3BP2", "start": 60, "end": 66}, "tail": {"text": "cherubism", "start": 113, "end": 122}}]}}, "schema": []}
{"input": "HSF1 deficiency and impaired HSP90-dependent protein folding are hallmarks of aneuploid human cells.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 0, "end": 4}], "disease": [{"text": "aneuploid", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced convulsions is dependent on somatostatin receptor-2 activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain.", "output": {"entities": {"gene": [{"text": "somatostatin-14", "start": 235, "end": 250}], "disease": [{"text": "convulsions", "start": 77, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "somatostatin-14", "start": 235, "end": 250}, "tail": {"text": "convulsions", "start": 77, "end": 88}}]}}, "schema": []}
{"input": "In sporadic cancers, silent p53 mutations are correlated with exonic splicing enhancers (ESEs) and exonic methylated sites.", "output": {"entities": {"gene": [{"text": "p53", "start": 28, "end": 31}], "disease": [{"text": "sporadic", "start": 3, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "In the sporadic tumors and hereditary breast cancer patients, we have found no evidence to support the involvement of aberrant CLDN1 in breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "CLDN1", "start": 127, "end": 132}], "disease": [{"text": "sporadic", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Role of the copper transporter, CTR1, in platinum-induced ototoxicity.", "output": {"entities": {"gene": [{"text": "CTR1", "start": 32, "end": 36}], "disease": [{"text": "ototoxicity", "start": 58, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Clinical and pathological features were evaluated to predict tumor microsatellite instability (MSI) and germline mutations in MLH1 and MSH2 DNA mismatch repair genes in two patient groups with sporadic colorectal cancer (CRC): 38 young patients (age </= 45 years) and 31 old patients (age >/= 60 years).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 135, "end": 139}], "disease": [{"text": "sporadic", "start": 193, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Levels of miR-146a/b, IRAK1 mRNA, TRAF6 mRNA and TLR4 mRNA/TLR4 protein were significantly higher in the CAD group than in the non-CAD group (all P & lt; 0. 01).", "output": {"entities": {"gene": [{"text": "IRAK1", "start": 22, "end": 27}], "disease": [{"text": "non-CAD", "start": 127, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IRAK1", "start": 22, "end": 27}, "tail": {"text": "non-CAD", "start": 127, "end": 134}}]}}, "schema": []}
{"input": "The inhibition of c-Jun N-terminal Kinase and p38 attenuated CD154-mediated apoptosis but not necrosis.", "output": {"entities": {"gene": [{"text": "CD154", "start": 61, "end": 66}], "disease": [{"text": "necrosis", "start": 94, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD154", "start": 61, "end": 66}, "tail": {"text": "necrosis", "start": 94, "end": 102}}]}}, "schema": []}
{"input": "A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.", "output": {"entities": {"gene": [{"text": "thyroglobulin", "start": 24, "end": 37}], "disease": [{"text": "dwarfism", "start": 66, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thyroglobulin", "start": 24, "end": 37}, "tail": {"text": "dwarfism", "start": 66, "end": 74}}]}}, "schema": []}
{"input": "Recently, variants in CHEK2 gene were shown to associate with sporadic prostate cancer in the USA.", "output": {"entities": {"gene": [{"text": "CHEK2 gene", "start": 22, "end": 32}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The translocation has been reported to generate a fusion gene between the EWS (a previously undescribed gene on chromosome 22) and FLI1 genes.", "output": {"entities": {"gene": [{"text": "EWS", "start": 74, "end": 77}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened membrane barrier between the photoreceptor layer and its blood supply.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 29, "end": 34}], "disease": [{"text": "SFD", "start": 5, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIMP3", "start": 29, "end": 34}, "tail": {"text": "SFD", "start": 5, "end": 8}}]}}, "schema": []}
{"input": "MATERIALS AND METHODS: The expression of MACC1 and MET mRNA in residual cancer cells from 52 patients after CRT was determined by quantitative real-time polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "MET", "start": 14, "end": 17}], "disease": [{"text": "residual cancer", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Glycine loading caused systolic blood pressure to fall in the XT2 (-/-) mice from 127 +/-3 to 115 +/-3 mmHg (P < 0. 001), a level virtually identical to that of the wild-type controls.", "output": {"entities": {"gene": [{"text": "XT2", "start": 62, "end": 65}], "disease": [{"text": "systolic blood pressure", "start": 23, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Elevated levels of procoagulant proteins factor II, factor VIII, factor IX, factor XI and fibrinogen are associated with an increased risk of venous thrombosis.", "output": {"entities": {"gene": [{"text": "factor II", "start": 41, "end": 50}], "disease": [{"text": "fibrinogen", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Additionally, pkr1-null mice showed diminished thermal hyperalgesia after acute inflammation elicited by mustard oil and reduced pain behavior after chronic inflammation produced by complete Freund' s adjuvant.", "output": {"entities": {"gene": [{"text": "pkr1", "start": 14, "end": 18}], "disease": [{"text": "pain", "start": 129, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pkr1", "start": 14, "end": 18}, "tail": {"text": "pain", "start": 129, "end": 133}}]}}, "schema": []}
{"input": "Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p. R390W, p. E382K, p. R390Q, p. R288C, p. H397Y, p. F247S, p. D335V and g. 561_562insC, responsible together for 12% of the examined alleles.", "output": {"entities": {"gene": [{"text": "ARSA", "start": 33, "end": 37}], "disease": [{"text": "MLD", "start": 78, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ARSA", "start": 33, "end": 37}, "tail": {"text": "MLD", "start": 78, "end": 81}}]}}, "schema": []}
{"input": "We further show that 5-aza-2'-deoxycytidine induced reexpression of AP-2alpha in MDA-MB-231 breast cancer cells (wherein AP-2alpha expression is silenced by hypermethylation), resulted in massive apoptosis induction, increased chemosensitivity, decreased colony formation, and loss of tumorigenesis upon chemotherapy.", "output": {"entities": {"gene": [{"text": "AP-2alpha", "start": 68, "end": 77}], "disease": [{"text": "breast cancer", "start": 92, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AP-2alpha", "start": 68, "end": 77}, "tail": {"text": "breast cancer", "start": 92, "end": 105}}]}}, "schema": []}
{"input": "Consecutive patients with >/= 50% carotid stenosis, whether symptomatic (with ipsilateral ischemic events) or asymptomatic, who were evaluated and followed in a neurovascular clinic were tested for plasma levels of homocysteine, C677T mutation in methylenetetrahydrofolate reductase, G20210A mutation of factor II, factor V Leiden, antiphospholipid antibodies, and polymorphisms of platelet membrane GP: human platelet antigen (HPA)-1, GP Ia (C807T), and GP Ib (variable number of tandem repeats, Kozak, and HPA-2).", "output": {"entities": {"gene": [{"text": "HPA", "start": 428, "end": 431}], "disease": [{"text": "carotid stenosis", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Global ischemia was induced in 3-and 18-month-old male Sprague-Dawley rats and CA1 and CA3 hippocampal areas, dentate gyrus and cerebral cortex of sham-operated and I/R animals were removed 48 h after insult.", "output": {"entities": {"gene": [{"text": "CA1", "start": 79, "end": 82}], "disease": [{"text": "ischemia", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of KA2 and NR2D did not influence cancer phenotype.", "output": {"entities": {"gene": [{"text": "KA2", "start": 13, "end": 16}], "disease": [{"text": "cancer", "start": 44, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "In the third translocation, chromosome 7 is broken at about 10 kilobases downstream of the 3' end of GLI3.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 101, "end": 105}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The two groups did not differ by insulinemia and glycemia, insulin resistance index, blood levels of thyrotropic hormone, sex hormone-binding globulin, insulin-like growth factor-1, triglycerides, or lipoproteins.", "output": {"entities": {"gene": [{"text": "sex hormone-binding globulin", "start": 122, "end": 150}], "disease": [{"text": "insulin resistance", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The administration of adenovirus-mediated RNAi and an atelocollagen/siRNA mixture against endogenous DUSP21 significantly suppressed xenograft HCC tumors in mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 143, "end": 146}], "disease": [{"text": "adenovirus", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 21, "end": 25}], "disease": [{"text": "campomelic dysplasia", "start": 112, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 21, "end": 25}, "tail": {"text": "campomelic dysplasia", "start": 112, "end": 132}}]}}, "schema": []}
{"input": "Thus, GUCY2C is a likely candidate modifier of the meconium ileus phenotype in CF.", "output": {"entities": {"gene": [{"text": "GUCY2C", "start": 6, "end": 12}], "disease": [{"text": "meconium ileus", "start": 51, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GUCY2C", "start": 6, "end": 12}, "tail": {"text": "meconium ileus", "start": 51, "end": 65}}]}}, "schema": []}
{"input": "The Ca2 +-mediated increase in AP-1 binding may play an important role in upregulating AP-1-responsive gene expression, in stimulating pulmonary vascular cell proliferation and, ultimately, in pulmonary vascular remodeling in patients with hypoxia-mediated pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 31, "end": 35}], "disease": [{"text": "hypoxia", "start": 240, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS.", "output": {"entities": {"gene": [{"text": "BBS1", "start": 12, "end": 16}], "disease": [{"text": "mild", "start": 102, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Levels of adiponectin, C-reactive protein and interleukin-1 receptor antagonist are associated with insulin sensitivity: a population-based study.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 23, "end": 41}], "disease": [{"text": "insulin sensitivity", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "OHT repressed FOXM1 expression in endocrine sensitive but not resistant breast carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "FOXM1", "start": 14, "end": 19}], "disease": [{"text": "breast carcinoma", "start": 72, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FOXM1", "start": 14, "end": 19}, "tail": {"text": "breast carcinoma", "start": 72, "end": 88}}]}}, "schema": []}
{"input": "This study establishes a TAA model by periarterial CaCl (2) exposure in rats, and demonstrates a significant elevation of expression of MMP-2, MMP-9, ADAM10 and ADAM17 in the pathogenesis of vascular remodeling.", "output": {"entities": {"gene": [{"text": "ADAM10", "start": 150, "end": 156}], "disease": [{"text": "vascular remodeling", "start": 191, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 26, "end": 30}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 48, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 26, "end": 30}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 48, "end": 83}}]}}, "schema": []}
{"input": "This review will focus on the possible applications of H2AX as a key regulator of DNA damage response in lung cancer and as a biomarker of: sensitivity of lung tumors to chemotherapy and radiotherapy, treatment with PARP inhibitors, bystander effect, multistep lung carcinogenesis, environmental smoking, and chemical genotoxicity, chemoprevention, prognosis, and also as therapeutic targets in lung cancers.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 55, "end": 59}], "disease": [{"text": "smoking", "start": 296, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "Disseminated peritoneal leiomyomatosis (DPL, leiomyomatosis peritonealis disseminata) is a rare condition in which multiple histologically benign smooth muscle tumorlets diffusely stud peritoneal and omental surfaces in females, predominantly of reproductive age.", "output": {"entities": {"gene": [{"text": "DPL", "start": 40, "end": 43}], "disease": [{"text": "leiomyomatosis", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "In vitro expression of mutant cDNA clones demonstrated that all of these mutations led to a deficiency of ASPA and should therefore result in Canavan disease.", "output": {"entities": {"gene": [{"text": "ASPA", "start": 106, "end": 110}], "disease": [{"text": "Canavan disease", "start": 142, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASPA", "start": 106, "end": 110}, "tail": {"text": "Canavan disease", "start": 142, "end": 157}}]}}, "schema": []}
{"input": "Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.", "output": {"entities": {"gene": [{"text": "SH2D1A", "start": 54, "end": 60}], "disease": [{"text": "X-linked lymphoproliferative disease", "start": 78, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH2D1A", "start": 54, "end": 60}, "tail": {"text": "X-linked lymphoproliferative disease", "start": 78, "end": 114}}]}}, "schema": []}
{"input": "We measured serum levels of monocyte chemoattractant protein (MCP)-1, fasting plasma glucose (FPG), HbA1c, total cholesterol, triglyceride, body mass index (BMI), high sensitivity CRP (hs-CRP) and evaluated CCR2, CD36, CD68 expression on the surface of monocytes.", "output": {"entities": {"gene": [{"text": "MCP", "start": 62, "end": 65}], "disease": [{"text": "body mass index", "start": 140, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Targeted disruption of the leukotriene B (4) receptor in mice reveals its role in inflammation and platelet-activating factor-induced anaphylaxis.", "output": {"entities": {"gene": [{"text": "leukotriene B (4) receptor", "start": 27, "end": 53}], "disease": [{"text": "inflammation", "start": 82, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "leukotriene B (4) receptor", "start": 27, "end": 53}, "tail": {"text": "inflammation", "start": 82, "end": 94}}]}}, "schema": []}
{"input": "In women (n = 801), the less common alleles of PLIN1 and PLIN4, in strong linkage disequilibrium (D': 0. 96), were significantly associated with lower body mass index.", "output": {"entities": {"gene": [{"text": "PLIN4", "start": 57, "end": 62}], "disease": [{"text": "body mass index", "start": 151, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "colon cancer", "start": 88, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "colon cancer", "start": 88, "end": 100}}]}}, "schema": []}
{"input": "Our findings suggest that noradrenergic-regulated plasticity genes such as CAM-L1, laminin, and CREB play an important role both in stress and in the treatment of depression.", "output": {"entities": {"gene": [{"text": "CAM", "start": 75, "end": 78}], "disease": [{"text": "depression", "start": 163, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAM", "start": 75, "end": 78}, "tail": {"text": "depression", "start": 163, "end": 173}}]}}, "schema": []}
{"input": "Identification of three novel menin mutations (c. 741delGTCA, c. 1348T & gt; C, c. 1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening.", "output": {"entities": {"gene": [{"text": "menin", "start": 30, "end": 35}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 137, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "menin", "start": 30, "end": 35}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 137, "end": 172}}]}}, "schema": []}
{"input": "These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway.", "output": {"entities": {"gene": [{"text": "EDN1", "start": 117, "end": 121}], "disease": [{"text": "ACS", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDN1", "start": 117, "end": 121}, "tail": {"text": "ACS", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "The data furthermore support the hypothesis that the 5-HT (7) receptor might be a suitable target for treating depression.", "output": {"entities": {"gene": [{"text": "5-HT (7", "start": 53, "end": 60}], "disease": [{"text": "depression", "start": 111, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (7", "start": 53, "end": 60}, "tail": {"text": "depression", "start": 111, "end": 121}}]}}, "schema": []}
{"input": "Nucleotide sequence analysis of the exact junction region and the corresponding germline DNA showed that the translocation at 12p13 occurred in the negative regulatory region of the cyclin D2 gene at the nt-1602, and a pentamer consisting of nts-1603 to-1599 was lost at the break site.", "output": {"entities": {"gene": [{"text": "cyclin D2 gene", "start": 182, "end": 196}], "disease": [{"text": "translocation", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results suggest that IFITM1 is a potential therapeutic target for gliomas.", "output": {"entities": {"gene": [{"text": "IFITM1", "start": 43, "end": 49}], "disease": [{"text": "gliomas", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "HOXA9", "start": 175, "end": 180}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXA9", "start": 175, "end": 180}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "We simultaneously investigated the concentration of IL-35, IL-10, TGF-β, and sCD25 in supernatant of cell culture and the expression patterns of several miRNAs in CD4 (+) CD25 (+) CD127 (-/low) FoxP3 (+) Tregs of ulcerative colitis (UC) patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 163, "end": 166}], "disease": [{"text": "ulcerative colitis", "start": 213, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "AGAT enzyme activity was detectable in both human and rat myocardia and was elevated in heart failure.", "output": {"entities": {"gene": [{"text": "AGAT", "start": 0, "end": 4}], "disease": [{"text": "heart failure", "start": 88, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGAT", "start": 0, "end": 4}, "tail": {"text": "heart failure", "start": 88, "end": 101}}]}}, "schema": []}
{"input": "The frequency of G-T transversions and the incidence of guanosine mutations in the nontranscribed strand of the p53 gene were found to be higher than expected, and we suggest, therefore, that exogenous carcinogens have an etiological role in sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 112, "end": 120}], "disease": [{"text": "sporadic", "start": 242, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Deficiency of Asparagine Synthetase (ASNSD, MIM 615574) is a very rare autosomal recessive disorder presenting with some brain abnormalities.", "output": {"entities": {"gene": [{"text": "Asparagine Synthetase", "start": 14, "end": 35}], "disease": [{"text": "abnormalities", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Characterization of an Opa interacting protein 5 involved in lung and esophageal carcinogenesis.", "output": {"entities": {"gene": [{"text": "Opa interacting protein 5", "start": 23, "end": 48}], "disease": [{"text": "esophageal", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Herein, we analyzed inflammation-mediated calcitonin I gene (CALC I) expression in human adipocyte primary cultures and in adipose tissue samples from infected and noninfected patients with different levels of serum ProCT.", "output": {"entities": {"gene": [{"text": "CALC", "start": 61, "end": 65}], "disease": [{"text": "inflammation", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Thus, hsa-miR-26a, CDK4, and CENTG1 comprise a functionally integrated oncomir/oncogene DNA cluster that promotes aggressiveness in human cancers by cooperatively targeting the RB1, PI3K/AKT, and JNK pathways.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 182, "end": 186}], "disease": [{"text": "aggressiveness", "start": 114, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Migraineurs have an interictal sympathetic nervous system (SNS) hypofunctionality and hypersensitivity to adrenergic amines.", "output": {"entities": {"gene": [{"text": "SNS", "start": 59, "end": 62}], "disease": [{"text": "hypersensitivity", "start": 86, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Here, using intravital microscopy to evaluate mice lacking specific isoforms of the serine/threonine kinase AKT and bone marrow chimeras, we found that hematopoietic cell-associated AKT2 is important for neutrophil adhesion and crawling and neutrophil-platelet interactions on activated endothelial cells during TNF-α-induced venular inflammation.", "output": {"entities": {"gene": [{"text": "serine/threonine kinase", "start": 84, "end": 107}], "disease": [{"text": "inflammation", "start": 334, "end": 346}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that although most undifferentiated VIN lesions are associated with HPV infection, p53 mutations may occur independent of viral infection even in the presence of oncogenic HPV.", "output": {"entities": {"gene": [{"text": "VIN", "start": 56, "end": 59}], "disease": [{"text": "viral infection", "start": 142, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In the TGF-alpha transgenic mouse model, TGF-alpha protects against nickel-induced acute lung injury, at least in part, by attenuating the inflammatory response, reducing pulmonary edema, and preserving levels of SP-B.", "output": {"entities": {"gene": [{"text": "TGF-alpha", "start": 7, "end": 16}], "disease": [{"text": "pulmonary edema", "start": 171, "end": 186}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TGF-alpha", "start": 7, "end": 16}, "tail": {"text": "pulmonary edema", "start": 171, "end": 186}}]}}, "schema": []}
{"input": "The endothelial nitric oxide synthase (NOS3) gene has been implicated in the pathogenesis of hypertension-related left ventricular hypertrophy (LVH).", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 4, "end": 37}], "disease": [{"text": "ventricular hypertrophy", "start": 119, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation.", "output": {"entities": {"gene": [{"text": "SUZ12", "start": 92, "end": 97}], "disease": [{"text": "neurofibromas", "start": 31, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SUZ12", "start": 92, "end": 97}, "tail": {"text": "neurofibromas", "start": 31, "end": 44}}]}}, "schema": []}
{"input": "Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.", "output": {"entities": {"gene": [{"text": "SLC12A3", "start": 111, "end": 118}], "disease": [{"text": "Gitelman syndrome", "start": 14, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC12A3", "start": 111, "end": 118}, "tail": {"text": "Gitelman syndrome", "start": 14, "end": 31}}]}}, "schema": []}
{"input": "In a logistic model that controlled for age, body mass index, diabetes, and smoking, the adjusted odds ratio (OR) for hypertension was 1. 0 (95% CI, 0. 8 to 1. 2), and 1. 0 (95% CI, 0. 9 to 1. 2) for ADRA2A and ADRA2C variant alleles.", "output": {"entities": {"gene": [{"text": "ADRA2C", "start": 211, "end": 217}], "disease": [{"text": "body mass index", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "HMGCS2 enhances invasion and metastasis via direct interaction with PPAR & #945; to activate Src signaling in colorectal cancer and oral cancer.", "output": {"entities": {"gene": [{"text": "HMGCS2", "start": 0, "end": 6}], "disease": [{"text": "oral cancer", "start": 132, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGCS2", "start": 0, "end": 6}, "tail": {"text": "oral cancer", "start": 132, "end": 143}}]}}, "schema": []}
{"input": "From the multivariate analysis, the only independent predictor of higher level of IFN was the age of patients (p = 0. 019), whereas independent predictors of a fibrosis stage ≥ F2 were age (p = 0. 007), belonging to the HIV/HCV group (p = 0. 048) and current alcohol consumption (p = 0. 008).", "output": {"entities": {"gene": [{"text": "IFN", "start": 82, "end": 85}], "disease": [{"text": "alcohol consumption", "start": 259, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "We studied 168 men with idiopathic infertility [oligoasthenoteratozoospermia (OAT)] and equal number of age-matched normal controls.", "output": {"entities": {"gene": [{"text": "OAT", "start": 78, "end": 81}], "disease": [{"text": "infertility", "start": 35, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.", "output": {"entities": {"gene": [{"text": "lysyl hydroxylase 1", "start": 28, "end": 47}], "disease": [{"text": "Ehlers-Danlos syndrome type VI", "start": 86, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lysyl hydroxylase 1", "start": 28, "end": 47}, "tail": {"text": "Ehlers-Danlos syndrome type VI", "start": 86, "end": 116}}]}}, "schema": []}
{"input": "A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia.", "output": {"entities": {"gene": [{"text": "CDP", "start": 13, "end": 16}], "disease": [{"text": "cataracts", "start": 203, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to screen for novel polymorphisms in the C5R1 gene and to determine whether any identified polymorphisms are associated with asthma and/or atopy and whether they are functional.", "output": {"entities": {"gene": [{"text": "C5R1", "start": 67, "end": 71}], "disease": [{"text": "atopy", "start": 165, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In human tissues, although the expression of acidic fibroblast growth factor (aFGF) was found to increase from normal liver to chronic hepatitis, its expression remained unchanged in the transition from chronic hepatitis to HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 224, "end": 227}], "disease": [{"text": "chronic hepatitis", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Skin samples from seven patients with cutaneous chronic GVHD, six post-BMT controls and six normal controls were evaluated by reverse transcription polymerase chain reaction for the proinflammatory cytokines interleukin-1 alpha (IL-1 alpha) and tumor necrosis factor-alpha (TNF-alpha), Th1-associated cytokines IL-2 and interferon-gamma (IFN-gamma), Th2-associated cytokines IL-4, IL-5 and IL-10, and fibrosis-associated cytokines platelet derived growth factor (PDGF) and transforming growth factor-beta (TGF-beta).", "output": {"entities": {"gene": [{"text": "IL-2", "start": 311, "end": 315}], "disease": [{"text": "fibrosis", "start": 401, "end": 409}]}, "relations": {}}, "schema": []}
{"input": "MKK4 expression was present in 24 intestinal metaplasia lesions (89%) and 12 gastric epithelial dysplasia lesions (100%), but in only 6 normal stomach samples (8%).", "output": {"entities": {"gene": [{"text": "MKK4", "start": 0, "end": 4}], "disease": [{"text": "intestinal metaplasia", "start": 34, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that unlike FANCF, both ER and BRCA1 are specifically targeted for methylation in sporadic breast cancers, a phenomenon that should be explored for development of novel diagnostic and therapeutic approaches.", "output": {"entities": {"gene": [{"text": "FANCF", "start": 31, "end": 36}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Vaccination with dendritic cells transfected with mRNA-encoded folate-receptor-alpha for relapsed metastatic ovarian cancer.", "output": {"entities": {"gene": [{"text": "folate-receptor-alpha", "start": 63, "end": 84}], "disease": [{"text": "ovarian cancer", "start": 109, "end": 123}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "folate-receptor-alpha", "start": 63, "end": 84}, "tail": {"text": "ovarian cancer", "start": 109, "end": 123}}]}}, "schema": []}
{"input": "GAA/GYS1-KO mice exhibited a profound reduction of the amount of glycogen in the heart and skeletal muscles, a significant decrease in lysosomal swelling and autophagic build-up as well as a complete correction of cardiomegaly.", "output": {"entities": {"gene": [{"text": "GYS1", "start": 4, "end": 8}], "disease": [{"text": "cardiomegaly", "start": 214, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "In morbidly obese participants, DBC1 was positively correlated to TNF and senescence (TP53 and BAX) gene expression markers in both subcutaneous and visceral adipose tissues.", "output": {"entities": {"gene": [{"text": "BAX", "start": 95, "end": 98}], "disease": [{"text": "obese", "start": 12, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Rats with DCM showed declined systolic myocardial performance associated with myocardial hypertrophy and fibrosis, which were accompanied with metabolism abnormalities, aberrant myocardial enzymes, increased AGEs (advanced glycation end products) accumulation and RAGE (receptor for AGEs) expression, elevated markers of oxidative stress (MDA, SOD, the ratio of NADP (+)/NADPH, Rac1 activity, NADPH oxidase subunits expression of gp91 (phox) and p47 (phox)), raised inflammatory factor (TNF-α and IL-1β), enhanced apoptotic cell death (ratio of bax/bcl-2, caspase-3 activity and TUNEL), diminished Akt and GSK-3β phosphorylation.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 378, "end": 382}], "disease": [{"text": "hypertrophy", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Statistical differences between normal-weight and overweight + obese subjects were found in the methylation status of different CpG sites of CLOCK (CpGs 1, 5-6, 8 and 11-14) and, with lower statistical significance, in BMAL1 (CpGs 6-7, 8, 15 and 16-17).", "output": {"entities": {"gene": [{"text": "BMAL1", "start": 219, "end": 224}], "disease": [{"text": "weight", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The frequency of the ACE gene deletion allele was similar in familial pancreatitis (49. 0%) sporadic pancreatitis (51. 0%) and controls (55. 8%).", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 21, "end": 29}], "disease": [{"text": "familial pancreatitis", "start": 61, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In 166/179 patients with available detailed clinical features, final diagnoses were: four late-onset marked pulmonary disease, 83 isolated CBAVD, 67 other CFTR-related phenotypes, including 44 CBAVD with pulmonary and/or pancreatic symptoms and 12 asymptomatic cases.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 155, "end": 159}], "disease": [{"text": "asymptomatic", "start": 248, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest a molecular pathway of tumorigenesis that is similar to MMR-deficient colorectal cancers and consistent with the notion that the site distributions of hereditary or sporadic MSI-high tumors may reflect tissue-specific susceptibility to lesions processed by the MMR machinery.", "output": {"entities": {"gene": [{"text": "MMR", "start": 76, "end": 79}], "disease": [{"text": "tumorigenesis", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "These findings improve our understanding of calcium signaling related biological function of CUG-BP1 in muscle atrophy.", "output": {"entities": {"gene": [{"text": "BP1", "start": 97, "end": 100}], "disease": [{"text": "muscle atrophy", "start": 104, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the p53 tumour suppressor gene are relatively common in the aetiology of a wide spectrum of tumour types, both sporadic and familial.", "output": {"entities": {"gene": [{"text": "p53", "start": 17, "end": 20}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of cyclin D2 and down-regulation of plakoglobin were demonstrated in GLI1-amplified compared with non-amplified human rhabdomyosarcoma cells.", "output": {"entities": {"gene": [{"text": "plakoglobin", "start": 50, "end": 61}], "disease": [{"text": "rhabdomyosarcoma", "start": 132, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "We conclude that 1) the spectrum of phenotypes in patients with GNRHR mutations is much broader than originally anticipated; 2) the frequency of GNRHR mutations may be more common than previously appreciated in familial cases of normosmic IHH and infrequent in sporadic cases; and 3) functional mutations of the GNRHR are distributed widely throughout the protein.", "output": {"entities": {"gene": [{"text": "GNRHR", "start": 64, "end": 69}], "disease": [{"text": "sporadic", "start": 261, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "We have now identified biallelic CNPY3 variants in three individuals with WS; these include compound-heterozygous missense and frameshift variants in a family with two affected siblings (individuals 1 and 2) and a homozygous splicing variant in a consanguineous family (individual 3).", "output": {"entities": {"gene": [{"text": "CNPY3", "start": 33, "end": 38}], "disease": [{"text": "WS", "start": 74, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CNPY3", "start": 33, "end": 38}, "tail": {"text": "WS", "start": 74, "end": 76}}]}}, "schema": []}
{"input": "Human tissue kallikrein 5 is a member of a proteolytic cascade pathway involved in seminal clot liquefaction and potentially in prostate cancer progression.", "output": {"entities": {"gene": [{"text": "tissue kallikrein 5", "start": 6, "end": 25}], "disease": [{"text": "prostate cancer", "start": 128, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tissue kallikrein 5", "start": 6, "end": 25}, "tail": {"text": "prostate cancer", "start": 128, "end": 143}}]}}, "schema": []}
{"input": "In addition to deaths associated with expression in neurons and keratinized epithelia, bovine oncostatin M caused abnormalities in bone growth and spermatogenesis, stimulated fibrosis surrounding islets in the pancreas, and disrupted normal lymphoid tissue development.", "output": {"entities": {"gene": [{"text": "oncostatin M", "start": 94, "end": 106}], "disease": [{"text": "fibrosis", "start": 175, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that overexpression of SRF exclusively in astrocytes can improve neuronal plasticity in FASD.", "output": {"entities": {"gene": [{"text": "SRF", "start": 46, "end": 49}], "disease": [{"text": "FASD", "start": 111, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRF", "start": 46, "end": 49}, "tail": {"text": "FASD", "start": 111, "end": 115}}]}}, "schema": []}
{"input": "Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "EDA", "start": 35, "end": 38}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 81, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA", "start": 35, "end": 38}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 81, "end": 114}}]}}, "schema": []}
{"input": "We screened a large cohort of muscular dystrophy patients for abnormalities in FHL1 (n = 102) and TCAP (n = 100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n = 9), MATR3 (n = 15) and PTRF (n = 7).", "output": {"entities": {"gene": [{"text": "MATR3", "start": 224, "end": 229}], "disease": [{"text": "abnormalities", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "NF--L", "start": 188, "end": 193}], "disease": [{"text": "major depression", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF--L", "start": 188, "end": 193}, "tail": {"text": "major depression", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "The present study used GAL immunohistochemistry and an unbiased semiquantitative scoring method to evaluate GAL innervation in the anterior NB of subjects clinically diagnosed as having no cognitive impairment, mild cognitive impairment or early-stage (mild/moderate) AD.", "output": {"entities": {"gene": [{"text": "GAL", "start": 23, "end": 26}], "disease": [{"text": "mild", "start": 211, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Several features previously associated with poor PCa outcome have been found to be significantly more common in BRCA2-mutated PCa than in sporadic tumours and may help to explain their adverse prognosis and be of relevance for targeted therapies.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 112, "end": 117}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We observed a correlation (R (2) = 0. 75, P & lt; 0. 0001) between FCGR3B CNV and neutrophil expression in both healthy controls and patients with SLE.", "output": {"entities": {"gene": [{"text": "FCGR3B", "start": 67, "end": 73}], "disease": [{"text": "SLE", "start": 147, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FCGR3B", "start": 67, "end": 73}, "tail": {"text": "SLE", "start": 147, "end": 150}}]}}, "schema": []}
{"input": "The ACAT-1-/-mice had decreased openings of the eyes because of atrophy of the meibomian glands, a modified form of sebaceous glands normally expressing high ACAT activities.", "output": {"entities": {"gene": [{"text": "ACAT", "start": 4, "end": 8}], "disease": [{"text": "atrophy", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.", "output": {"entities": {"gene": [{"text": "ASC", "start": 205, "end": 208}], "disease": [{"text": "hHcy", "start": 16, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ASC", "start": 205, "end": 208}, "tail": {"text": "hHcy", "start": 16, "end": 20}}]}}, "schema": []}
{"input": "Osteopetrosis is an inherited disorder of impaired bone resorption, with the most commonly affected genes being CLCN7 and TCIRG1, encoding the Cl (-)/H (+) exchanger CLC-7 and the a3 subunit of the vacuolar H (+)-ATPase, respectively.", "output": {"entities": {"gene": [{"text": "TCIRG1", "start": 122, "end": 128}], "disease": [{"text": "bone resorption", "start": 51, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Specifically, hypoxia markedly increased LOX protein expression; however, catalytic activity (beta-aminopropionitrile inhibitable hydrogen peroxide production) was significantly reduced under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "LOX", "start": 41, "end": 44}], "disease": [{"text": "hypoxic", "start": 192, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Since patients with congenital insensitivity to pain with anhidrosis lack NGF-dependent unmyelinated (C-) and thinly myelinated (Aδ-) fibers, and their dermal sweat glands are without innervation, they exhibit no pain, itch, signs of neurogenic inflammation or sympathetic skin responses.", "output": {"entities": {"gene": [{"text": "NGF", "start": 74, "end": 77}], "disease": [{"text": "itch", "start": 219, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive (AR) disorder characterized by motor symptoms as such as dystonia or parkinsonism, mental retardation, retinitis pigmentosa and iron accumulation in the brain.", "output": {"entities": {"gene": [{"text": "PANK2", "start": 45, "end": 50}], "disease": [{"text": "mental retardation", "start": 232, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "In a stepwise linear regression analysis, the C-174G polymorphism was independently associated with insulin sensitivity; however, after inclusion of plasma IL-6 concentrations, the polymorphism was excluded from the model explaining insulin sensitivity variability, thus suggesting that the polymorphism was affecting insulin sensitivity by regulating IL-6 plasma levels.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 156, "end": 160}], "disease": [{"text": "insulin sensitivity", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Particularly ADA-deficient patients with late-onset forms and after enzyme replacement therapy (PEG-ADA) are known to manifest immune dysregulation.", "output": {"entities": {"gene": [{"text": "ADA", "start": 13, "end": 16}], "disease": [{"text": "immune dysregulation", "start": 127, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "To extend these findings to further types of human tumours we analysed specimens from 64 patients with primary breast cancer for their individual expression levels of several MDR-associated genes (MDR1, MRP, LRP (lung cancer resistance-related protein), topoisomerase (Topo) II alpha/IIbeta, cyclin A and the PKC isozyme genes (alpha, beta1, beta2, eta, theta, and mu) by a cDNA-PCR approach.", "output": {"entities": {"gene": [{"text": "cyclin A", "start": 292, "end": 300}], "disease": [{"text": "lung cancer", "start": 213, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Previously, we have associated exonic polymorphisms in a Xq13 thyroid receptor coactivator named HOPA with a modest increase in vulnerability to a broad spectrum of neuropsychiatric illness, including depression, psychosis, and hypothyroidism.", "output": {"entities": {"gene": [{"text": "HOPA", "start": 97, "end": 101}], "disease": [{"text": "depression", "start": 201, "end": 211}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOPA", "start": 97, "end": 101}, "tail": {"text": "depression", "start": 201, "end": 211}}]}}, "schema": []}
{"input": "These results suggest that overexpression of p12 leads to testicular and ovarian abnormalities, a phenotype closely related to that of cdk2-/-mice.", "output": {"entities": {"gene": [{"text": "cdk2", "start": 135, "end": 139}], "disease": [{"text": "abnormalities", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Results presented herein provide further evidence for a role of MAGI1 and MAGI2 in BPAD and SZ etiology.", "output": {"entities": {"gene": [{"text": "MAGI2", "start": 74, "end": 79}], "disease": [{"text": "BPAD", "start": 83, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAGI2", "start": 74, "end": 79}, "tail": {"text": "BPAD", "start": 83, "end": 87}}]}}, "schema": []}
{"input": "RESULTS: Patients who were homozygous for the minor allele displayed modestly decreased low-density lipoprotein (LDL) cholesterol and raised apolipoprotein B at baseline, and raised systolic blood pressure and high-density lipoprotein (HDL) cholesterol on follow-up.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 141, "end": 157}], "disease": [{"text": "systolic blood pressure", "start": 182, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "PATIENTS/SUBJECTS/METHODS: The methylation status of p16 was evaluated in 22 HCC, 17 cirrhosis, 17 chronic hepatitis, nine primary biliary cirrhosis (PBC), eight autoimmune hepatitis, seven drug induced liver disease, six fatty liver, and three normal liver tissues using methylation specific polymerase chain reaction (MSP).", "output": {"entities": {"gene": [{"text": "HCC", "start": 77, "end": 80}], "disease": [{"text": "chronic hepatitis", "start": 99, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Single 5-minute vorinostat (25 μm) topical application on the cornea following PRK significantly reduced corneal haze (P <. 008) and fibrotic marker proteins (α-smooth muscle actin and f-actin; P <. 001) without showing redness, swelling, or inflammation in rabbit eyes in vivo screened 4 weeks after PRK.", "output": {"entities": {"gene": [{"text": "PRK", "start": 79, "end": 82}], "disease": [{"text": "inflammation", "start": 242, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that deletion in mice of the 13q14-minimal deleted region (MDR), which encodes the DLEU2/miR-15a/16-1 cluster, causes development of indolent B cell-autonomous, clonal lymphoproliferative disorders, recapitulating the spectrum of CLL-associated phenotypes observed in humans.", "output": {"entities": {"gene": [{"text": "DLEU2", "start": 104, "end": 109}], "disease": [{"text": "lymphoproliferative disorders", "start": 189, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "This is the first study to implicate CCNO, a DNA repair gene reported to be involved in multiciliogenesis, in PCD.", "output": {"entities": {"gene": [{"text": "CCNO", "start": 37, "end": 41}], "disease": [{"text": "PCD", "start": 110, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCNO", "start": 37, "end": 41}, "tail": {"text": "PCD", "start": 110, "end": 113}}]}}, "schema": []}
{"input": "The following genetic variants were assessed HLA-DRB1 shared epitope (SE) alleles, rs2476601 (PTPN22), rs108184088 (TRAF1-C5), rs7574865 (STAT4), rs3087243 (CTLA4), rs4810485 (CD40), rs1678542 (KIF5A-PIP4K2C), rs2812378 (CCL21), rs42041 (CDK6), rs4750316 (PRKCQ), rs6684865 (MMEL1-TNFRSF14), rs2004640 (IRF5), rs6920220 and rs10499194 (TNFAIP3-OLIG3), interactions between HLA-SE alleles and rs2476601 (PTPN22) and between HLA-SE alleles and smoking.", "output": {"entities": {"gene": [{"text": "KIF5A", "start": 194, "end": 199}], "disease": [{"text": "smoking", "start": 442, "end": 449}]}, "relations": {}}, "schema": []}
{"input": "To determine the association of the TNF-alpha gene G-308A polymorphism on the risk of hepatocellular carcinoma (HCC) in a Turkish population, a hospital-based case-control study was designed consisting of 110 diagnosis subjects with hepatocellular carcinoma and 110 cancer-free control subjects matched on age, gender, smoking and alcohol status.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 36, "end": 45}], "disease": [{"text": "smoking", "start": 319, "end": 326}]}, "relations": {}}, "schema": []}
{"input": "The role of the familial breast cancer susceptibility genes, BRCA1 and BRCA2, in the homologous recombination (HR) pathway for DNA double-strand break (DSB) repair suggests that the mechanisms involved in HR and DNA DSB repair are of etiological importance during breast tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 71, "end": 76}], "disease": [{"text": "tumorigenesis", "start": 271, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "In a cognitively impaired male from this family, who also presented with tall stature and dysmorphism and did not have the MED12 mutation, a 600-kb duplication at 17p13. 3 including the YWHAE gene, was found in a mosaic state.", "output": {"entities": {"gene": [{"text": "MED12", "start": 123, "end": 128}], "disease": [{"text": "tall stature", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Subset analysis demonstrated no significant difference between the frequencies of HLA-DR3 and the susceptibility alleles of CTLA-4 A/G (49) and CT60 SNPs in the familial and sporadic GD subsets (P > 0. 05).", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 124, "end": 130}], "disease": [{"text": "sporadic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Thus, these data provides evidence to the existence of an aberrant IL-6/STAT3/lncTCF7 signaling axis that leads to HCC aggressiveness through EMT induction, which could be novel therapeutic targets in malignancies.", "output": {"entities": {"gene": [{"text": "HCC", "start": 115, "end": 118}], "disease": [{"text": "aggressiveness", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "DNA samples from 95 patients with LCA were analyzed by using a microarray chip containing disease-associated sequence variants in eight LCA genes.", "output": {"entities": {"gene": [{"text": "LCA", "start": 34, "end": 37}], "disease": [{"text": "LCA", "start": 136, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCA", "start": 34, "end": 37}, "tail": {"text": "LCA", "start": 136, "end": 139}}]}}, "schema": []}
{"input": "In OVA-induced asthma models, which were applied to PAC1R-deficient mice (PAC1R (-/-)) and to BALB/c mice treated with the specific PAC1R agonist MAX, PAC1R deficiency resulted in inflammatory effects, while agonistic stimulation resulted in anti-inflammatory effects.", "output": {"entities": {"gene": [{"text": "MAX", "start": 146, "end": 149}], "disease": [{"text": "asthma", "start": 15, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The results of the present study suggested that the PON1 R and M alleles may play a role in the pathogenesis of cardiac ischemia in our North African population and that a decrease in PON1 activity may be a valuable marker for monitoring the development of the atherosclerosis process and the associated cardiovascular complications.", "output": {"entities": {"gene": [{"text": "PON1", "start": 52, "end": 56}], "disease": [{"text": "atherosclerosis", "start": 261, "end": 276}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PON1", "start": 52, "end": 56}, "tail": {"text": "atherosclerosis", "start": 261, "end": 276}}]}}, "schema": []}
{"input": "In 42 healthy Japanese non-smoking men, we investigated the relationship between the MN frequency levels and genetic polymorphisms in three different genes: aldehyde dehydrogenase 2 (ALDH2), X-ray repair cross-complementing group 1 (XRCC1) and excision repair cross-complementing group 2 (ERCC2).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 233, "end": 238}], "disease": [{"text": "smoking", "start": 27, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We present the case of a 52-year-old patient with chronic myeloid neoplasm with eosinophilia and abnormalities of PDGFRA, in whom acceleration occurred after a year of cytostatic therapy with hydroxyurea and was successfully treated with imatinib.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 114, "end": 120}], "disease": [{"text": "abnormalities", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Our results show significantly (p < 0. 001) higher expression of CCR9 by mucinous adenocarcinoma, papillary serous carcinoma, and endometriod ovarian carcinoma cases, than compared to non-neoplastic ovarian tissue.", "output": {"entities": {"gene": [{"text": "CCR9", "start": 65, "end": 69}], "disease": [{"text": "ovarian carcinoma", "start": 142, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Ewing sarcoma, along with peripheral primitive neuroectodermal tumor, belongs to a tumor family that shares clinicopathologic and molecular genetic features, including the characteristic chromosomal translocation that results in the fusion of the EWS gene on 22q12 to either the FLI1 gene on 11q24 or other Ets family transcription factor gene, such as the ERG gene on 21q22.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 247, "end": 255}], "disease": [{"text": "chromosomal translocation", "start": 187, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Thus, polymorphisms have been reported in prothrombin, fibrinogen, factor V, tissue factor, endothelial protein C receptor, and plasminogen activator inhibitor-1 genes.", "output": {"entities": {"gene": [{"text": "endothelial protein C receptor", "start": 92, "end": 122}], "disease": [{"text": "fibrinogen", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes.", "output": {"entities": {"gene": [{"text": "BAP1", "start": 26, "end": 30}], "disease": [{"text": "UM", "start": 90, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BAP1", "start": 26, "end": 30}, "tail": {"text": "UM", "start": 90, "end": 92}}]}}, "schema": []}
{"input": "The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).", "output": {"entities": {"gene": [{"text": "DRD5", "start": 100, "end": 104}], "disease": [{"text": "smoking", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Moreover, these animals exhibited renal inflammation, fibrosis, and increased cyclin E. These results indicate that FHHt-associated CUL3 Δ403-459 targets KLHL3 for degradation, thereby preventing WNK degradation, whereas general loss of CUL3 activity-while also impairing WNK degradation-has widespread toxic effects in the kidney.", "output": {"entities": {"gene": [{"text": "KLHL3", "start": 154, "end": 159}], "disease": [{"text": "fibrosis", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To assess whether vaccine induced antibodies against surface antigens of M. ulcerans can protect against Buruli ulcer we formulated two surface vaccine candidate antigens, MUL_2232 and MUL_3720, as recombinant proteins with the synthetic Toll-like receptor 4 agonist glucopyranosyl lipid adjuvant-stable emulsion.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 4", "start": 238, "end": 258}], "disease": [{"text": "ulcer", "start": 76, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 119, "end": 124}], "disease": [{"text": "RTT", "start": 105, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 119, "end": 124}, "tail": {"text": "RTT", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "The aims of the present study were to extend analysis of the association between NRG3 and psychotic symptoms and attention in schizophrenia and to determine whether these associations also apply to bipolar disorder.", "output": {"entities": {"gene": [{"text": "NRG3", "start": 81, "end": 85}], "disease": [{"text": "bipolar disorder", "start": 198, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRG3", "start": 81, "end": 85}, "tail": {"text": "bipolar disorder", "start": 198, "end": 214}}]}}, "schema": []}
{"input": "Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.", "output": {"entities": {"gene": [{"text": "ATF1", "start": 246, "end": 250}], "disease": [{"text": "clear cell sarcoma", "start": 251, "end": 269}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATF1", "start": 246, "end": 250}, "tail": {"text": "clear cell sarcoma", "start": 251, "end": 269}}]}}, "schema": []}
{"input": "The association between five ESR α (ESR1) and β (ESR2) polymorphisms with 7-year dementia incidence was examined among 6959 older men and women from the Three City Study using multivariate-adjusted Cox regression models with delayed entry.", "output": {"entities": {"gene": [{"text": "ESR1", "start": 36, "end": 40}], "disease": [{"text": "regression", "start": 202, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Here, we report a therapeutic role for AnxA5 in post-interventional vascular remodeling in a mouse model mimicking percutaneous coronary intervention (PCI).", "output": {"entities": {"gene": [{"text": "AnxA5", "start": 39, "end": 44}], "disease": [{"text": "vascular remodeling", "start": 68, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Nonantigen specific adhesion systems lymphocyte function-associated antigen 1/intercellular adhesion molecule (LFA-1/ICAM-1) and cluster designation 2/lymphocyte function-associated antigen 3 (CD2/LFA-3) are considered a crucial step in immune-mediated cell-cell adhesion reactions.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 111, "end": 116}], "disease": [{"text": "adhesion", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0. 99 (0. 97-1. 02), minor allele frequency = 27. 5%; TNF 1. 00 (0. 95-1. 06), 5. 0%; CASP10 1. 02 (0. 98-1. 07), 6. 5%; PGR 1. 02 (0. 99-1. 06), 15. 3%; and BID 0. 98 (0. 86-1. 12), 1. 7%.", "output": {"entities": {"gene": [{"text": "BID", "start": 331, "end": 334}], "disease": [{"text": "invasive breast cancer", "start": 76, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.", "output": {"entities": {"gene": [{"text": "p22", "start": 73, "end": 76}], "disease": [{"text": "strabismus", "start": 206, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Expression of mRNA for KL1, KL2, FSHR, PAPP and P450 in infertility patients with different infertility diagnoses.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 33, "end": 37}], "disease": [{"text": "infertility", "start": 56, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "RNA splicing mediated by YB-1 is inhibited by TLS/CHOP in human myxoid liposarcoma cells.", "output": {"entities": {"gene": [{"text": "YB-1", "start": 25, "end": 29}], "disease": [{"text": "myxoid liposarcoma", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The expression of SPRY4-IT1 was examined in ccRCC patients and renal cancer cell lines by using quantitative real-time PCR (qRT-PCR).", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 18, "end": 27}], "disease": [{"text": "renal cancer", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that CABC1 is an important candidate for mutation analysis in progressive cerebellar ataxia and atrophy on MRI to identify those patients, who may benefit from CoQ10 treatment.", "output": {"entities": {"gene": [{"text": "CABC1", "start": 26, "end": 31}], "disease": [{"text": "atrophy", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In renal fibrosis, ADAM17 colocalized with TGF-alpha.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 19, "end": 25}], "disease": [{"text": "renal fibrosis", "start": 3, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "The dexamethasone suppression test (DST) was administered after baseline cortisol measurements in 20 patients (10 males, 10 females) who met DSM-III criteria for obsessive-compulsive disorder (OCD).", "output": {"entities": {"gene": [{"text": "DST", "start": 36, "end": 39}], "disease": [{"text": "obsessive-compulsive disorder", "start": 162, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that E1B M (r) 55000-deleted adenovirus may have therapeutic potential for the treatment of HCC with loss of p53 transcription activity or with HBx expression.", "output": {"entities": {"gene": [{"text": "HCC", "start": 112, "end": 115}], "disease": [{"text": "adenovirus", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the effects of pharmacological and RNAi-mediated inhibition of EHMT2 on the transcription of IFN-& #946; and other IFN-inducible antiviral genes, as well as its effect on foot-and-mouth disease virus (FMDV) and vesicular stomatitis virus (VSV) replication in bovine cells.", "output": {"entities": {"gene": [{"text": "EHMT2", "start": 76, "end": 81}], "disease": [{"text": "vesicular stomatitis", "start": 224, "end": 244}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EHMT2", "start": 76, "end": 81}, "tail": {"text": "vesicular stomatitis", "start": 224, "end": 244}}]}}, "schema": []}
{"input": "High serum AFP levels, motor and sensory axonal neuropathy, and marked cerebellar atrophy on MRI were detected in all the patients who underwent these examinations.", "output": {"entities": {"gene": [{"text": "MRI", "start": 93, "end": 96}], "disease": [{"text": "sensory axonal neuropathy", "start": 33, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "PubMed and other electronic databases were systematically searched up to August 2014 using the following terms: \" GERD and CYP2C19 \", \" esophagitis and CYP2C19 \", and \" non-erosive reflux disease and CYP2C19. \"", "output": {"entities": {"gene": [{"text": "CYP2C19", "start": 123, "end": 130}], "disease": [{"text": "reflux", "start": 181, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "DSE was performed in 103 patients with angiographically documented coronary artery disease.", "output": {"entities": {"gene": [{"text": "DSE", "start": 0, "end": 3}], "disease": [{"text": "coronary artery disease", "start": 67, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "However, administration of IL-2 to patients can lead, by ill-defined mechanisms, to toxic adverse effects including severe pulmonary edema.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 27, "end": 31}], "disease": [{"text": "pulmonary edema", "start": 123, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in DHFR, resulting in profound enzyme deficiency.", "output": {"entities": {"gene": [{"text": "DHFR", "start": 270, "end": 274}], "disease": [{"text": "inborn error of metabolism", "start": 65, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DHFR", "start": 270, "end": 274}, "tail": {"text": "inborn error of metabolism", "start": 65, "end": 91}}]}}, "schema": []}
{"input": "METHODS: Immunohistochemical analysis was performed on 138 gastric carcinoma specimens, their paired adjacent mucosa specimens, 102 paired lymphatic metastatic carcinoma tissue specimens, 30 dysplasia specimens, 30 intestinal metaplasia specimens, 10 chronic superficial gastritis specimens and 5 normal gastric mucosa specimens for Skp2 expression and on 138 gastric carcinoma specimens for p27 and PTEN expression.", "output": {"entities": {"gene": [{"text": "p27", "start": 392, "end": 395}], "disease": [{"text": "chronic superficial gastritis", "start": 251, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "We assessed the time course of expression of PTN, MK and FGF-2 during EAE and determined the cellular origin of FGF-2 and FGFR1 in normal spinal cord and during inflammatory demyelination.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 122, "end": 127}], "disease": [{"text": "demyelination", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from congenital hypomyelinating neuropathy (CHN) through demyelinating form of CMT to the axonal type of CMT disease.", "output": {"entities": {"gene": [{"text": "CHN", "start": 181, "end": 184}], "disease": [{"text": "congenital hypomyelinating neuropathy", "start": 142, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "In addition to lipid profile, homeostasis model assessment of insulin resistance (HOMA-IR) and high-sensitivity C-reactive protein (hsCRP) assays, monocyte GPR 120 expression, and plasma GPR 120 levels were assessed using quantitative polymerase chain reaction and enzyme-linked immunosorbent assay kits.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 112, "end": 130}], "disease": [{"text": "insulin resistance", "start": 62, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Exposure of keratinocytes to IFN-gamma and TNF-alpha increased intra-cytoplasmic expression and led to partial translocation at the cell surface.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 43, "end": 52}], "disease": [{"text": "translocation", "start": 111, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We also detected decreased EAAT3 transcript expression in schizophrenia and decreased EAAT4 transcript expression in major depressive disorder.", "output": {"entities": {"gene": [{"text": "EAAT4", "start": 86, "end": 91}], "disease": [{"text": "major depressive disorder", "start": 117, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EAAT4", "start": 86, "end": 91}, "tail": {"text": "major depressive disorder", "start": 117, "end": 142}}]}}, "schema": []}
{"input": "The objective of the investigation was to assess whether circulating adhesion molecules, von Willebrand factor (vWf) and endothelin-1 are elevated in patients with mild uncomplicated essential hypertension without further risk factors of atherosclerosis and whether they could serve as indicators of endothelial dysfunction in this form of hypertension.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 89, "end": 110}], "disease": [{"text": "hypertension", "start": 193, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "von Willebrand factor", "start": 89, "end": 110}, "tail": {"text": "hypertension", "start": 193, "end": 205}}]}}, "schema": []}
{"input": "Compared with the control group, the serum TG, TC, LDLC, nHDLC, apoA II, apoB100, apoC II, apoC III, apoE levels and TG/HDLC ratio in patients with type II b hyperlipidemia were significantly increased (P < 0. 001), and the serum HDLC levels and apoE/apoC III ratio were significantly decreased (P < 0. 05).", "output": {"entities": {"gene": [{"text": "LDLC", "start": 51, "end": 55}], "disease": [{"text": "hyperlipidemia", "start": 158, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "There is little suggestion of interaction between NAT2 status and smoking and no relationship with NAT2 genotype alone.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 50, "end": 54}], "disease": [{"text": "smoking", "start": 66, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: Our data confirm the importance of PTCH, SMOH and TP53 mutations in the pathogenesis of sporadic BCCs.", "output": {"entities": {"gene": [{"text": "TP53", "start": 63, "end": 67}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "These data implicate a critical role for TXNIP in diabetes-related impairment of ischemia-mediated angiogenesis and identify TXNIP as a potential therapeutic target for the vascular complications of diabetes.", "output": {"entities": {"gene": [{"text": "TXNIP", "start": 41, "end": 46}], "disease": [{"text": "ischemia", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We report on a further patient, first child of healthy consanguineous parents, with severe developmental delay, seizures, hyperintensities of the basal ganglia on magnetic resonance imaging (MRI), progressive brain atrophy, optic nerve atrophy, repeatedly elevated blood lactate, and respiratory chain complexes I, I + III and cytochrome c oxidase deficiencies with borderline depletion of mitochondrial DNA in muscle tissue.", "output": {"entities": {"gene": [{"text": "MRI", "start": 191, "end": 194}], "disease": [{"text": "optic nerve atrophy", "start": 224, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "A novel 778-bp cDNA fragment from human large cell lung carcinoma cell lines 95C and 95D was obtained, and named LCMR1 (Lung Cancer Metastasis Related protein 1).", "output": {"entities": {"gene": [{"text": "LCMR1", "start": 113, "end": 118}], "disease": [{"text": "large cell lung carcinoma", "start": 40, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "In antiretroviral therapy (ART)-treated patients, to determine if AIDS-related non-Hodgkin lymphoma (AIDS-NHL) is preceded by: elevated frequency of potentially malignant abnormal activated/germinal center-like B cells, elevated serum prevalence of B-cell stimulatory Toll-like receptor (TLR) ligands resulting from HIV infection-associated microbial translocation, dysregulated B-cell TLR expression/signaling, and perturbations in the frequency of immunoregulatory cells.", "output": {"entities": {"gene": [{"text": "ART", "start": 27, "end": 30}], "disease": [{"text": "translocation", "start": 351, "end": 364}]}, "relations": {}}, "schema": []}
{"input": "Group A streptococci (GAS) can cause a wide variety of human infections ranging from asymptomatic colonization to life-threatening invasive diseases.", "output": {"entities": {"gene": [{"text": "GAS", "start": 22, "end": 25}], "disease": [{"text": "asymptomatic", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Association of polymorphisms in Th1, Th2 cytokine genes with hayfever and atopy in a subsample of EPIC-Heidelberg.", "output": {"entities": {"gene": [{"text": "Th1", "start": 32, "end": 35}], "disease": [{"text": "atopy", "start": 74, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Ratios of the consumed coagulation factors, prekallikrein, and HMW kininogen in rat plasma collected 7 h after intravenous injection of ETX were obtained as follows: prekallikrein (18. 0 +/-4. 8%), HMW kininogen (36. 2 +/-1. 9%), factor XII (54. 0 +/-0. 7%), factor VIII (86. 1 +/-1. 8%), factor VII (35. 6 +/-7. 7%), factor V (90. 6 +/-0. 8%), and factor I (fibrinogen) (> 89. 6 +/-0. 0%).", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 259, "end": 270}], "disease": [{"text": "fibrinogen", "start": 359, "end": 369}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these data identify a primary disease-causing molecular defect in cone cells and suggest that RDS-associated disease in patients may be a result of this defect coupled with secondary sequellae involving RPE and choriocapillaris cell loss.", "output": {"entities": {"gene": [{"text": "RPE", "start": 217, "end": 220}], "disease": [{"text": "secondary", "start": 187, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of RBP3, contained in this region, was performed in this family and others with recessive RP.", "output": {"entities": {"gene": [{"text": "RBP3", "start": 14, "end": 18}], "disease": [{"text": "RP", "start": 101, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RBP3", "start": 14, "end": 18}, "tail": {"text": "RP", "start": 101, "end": 103}}]}}, "schema": []}
{"input": "Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.", "output": {"entities": {"gene": [{"text": "SPAG1", "start": 13, "end": 18}], "disease": [{"text": "primary ciliary dyskinesia", "start": 25, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPAG1", "start": 13, "end": 18}, "tail": {"text": "primary ciliary dyskinesia", "start": 25, "end": 51}}]}}, "schema": []}
{"input": "Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.", "output": {"entities": {"gene": [{"text": "C2orf37", "start": 13, "end": 20}], "disease": [{"text": "hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome", "start": 58, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C2orf37", "start": 13, "end": 20}, "tail": {"text": "hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome", "start": 58, "end": 148}}]}}, "schema": []}
{"input": "Immunohistochemical stains performed on paraffin sections from these 6 representative cases showed differential protein expression of MLH1, MSH2, MSH6, and PMS2 when compared to normal reactive tissues from the same patient but showed no significant differences when compared to controls of non-familial, sporadic lymphomas.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 140, "end": 144}], "disease": [{"text": "sporadic", "start": 305, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Glutathione peroxidase 1 C593T polymorphism is associated with lobar intracerebral hemorrhage.", "output": {"entities": {"gene": [{"text": "Glutathione peroxidase 1", "start": 0, "end": 24}], "disease": [{"text": "intracerebral hemorrhage", "start": 69, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In view of the significance of MDM2 as a regulator as well as critical target of wild type p53, this study was undertaken to determine the alteration in MDM2 expression in esophageal squamons cell carcinoma (ESCC) and its relationship to clinicopathological parameters as well as p53gene and protein status.", "output": {"entities": {"gene": [{"text": "MDM2", "start": 31, "end": 35}], "disease": [{"text": "esophageal", "start": 172, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Consistent with this notion, trans suppression of otx2 and other developmentally related genes recapitulate aspects of the otocephaly phenotype in zebrafish.", "output": {"entities": {"gene": [{"text": "otx2", "start": 50, "end": 54}], "disease": [{"text": "otocephaly", "start": 123, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "otx2", "start": 50, "end": 54}, "tail": {"text": "otocephaly", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "KRAS2 mutations were found in 43% of the goblet cell serrated polyp (GCSP) category, 13% of MVSPs, 7% of SPAPs, and 24% of SAs; in 26% of large traditional adenoma (lTAs) compared with small traditional adenomas (sTAs) (0/30; P < 0. 005) and in 37. 3% of traditional carcinomas (TCa).", "output": {"entities": {"gene": [{"text": "GCSP", "start": 69, "end": 73}], "disease": [{"text": "polyp", "start": 62, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Finally, OSM secreted from KIT D816V (+) mast cells stimulated growth of endothelial cells, fibroblasts, and osteoblasts, suggesting that mast cell-derived OSM may serve as a key modulator of the marrow microenvironment and thus contribute to the pathology of systemic mastocytosis.", "output": {"entities": {"gene": [{"text": "OSM", "start": 9, "end": 12}], "disease": [{"text": "systemic mastocytosis", "start": 260, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that the polymorphisms in XRCC3 are significantly associated with the risk of developing radiation-induced late xerostomia.", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 47, "end": 52}], "disease": [{"text": "xerostomia", "start": 133, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To understand the molecular mechanisms of functional synergy between TAL1 and LMO in tumorigenesis and transcriptional regulation, we tried to identify downstream target genes regulated by TAL1 and LMO by a subtractive PCR method.", "output": {"entities": {"gene": [{"text": "TAL1", "start": 69, "end": 73}], "disease": [{"text": "tumorigenesis", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Of the 22 tumor suppressor genes examined, aberrant methylation was observed for 9 genes: tumor protein p73 (TP73), fragile histidine triad (FHIT), von Hippel-Lindau (VHL), adenomatosis polyposis coli (APC), estrogen receptor 1 (ESR1), cyclin-dependent kinase inhibitor 2B (CDKN2B), death-associated protein kinase 1 (DAPK1), glutathione S-transferase pi (GSTP1), and immunoglobin superfamily, member 4 (IGSF4).", "output": {"entities": {"gene": [{"text": "TP73", "start": 109, "end": 113}], "disease": [{"text": "polyposis coli", "start": 186, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "In a hypothesis-driven candidate gene approach, it has been recently shown that polymorphisms in the genes coding for PITX3 and EN1 are associated with sporadic PD.", "output": {"entities": {"gene": [{"text": "PITX3", "start": 118, "end": 123}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "inoculation of lacZ-tagged human fibrosarcoma cells (HT1080lacZ-K15), leading to the formation of experimental lung and liver metastases.", "output": {"entities": {"gene": [{"text": "K15", "start": 64, "end": 67}], "disease": [{"text": "fibrosarcoma", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case).", "output": {"entities": {"gene": [{"text": "IDUA gene", "start": 60, "end": 69}], "disease": [{"text": "mild", "start": 178, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The responses of GGT to alcohol drinking were classified into three groups: non-response, mild-response and hyperresponse.", "output": {"entities": {"gene": [{"text": "GGT", "start": 17, "end": 20}], "disease": [{"text": "alcohol drinking", "start": 24, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "While not all mutations might have been picked up by this technique, the data suggest that, similar to adult sporadic meningiomas, some pediatric meningiomas may result from somatic mutations in the NF2 gene.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 199, "end": 207}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In the whole series, increased CARM1 expression is correlated with features associated with aggressive behaviour such as young age, premenopausal status, large tumour size and high tumour grade.", "output": {"entities": {"gene": [{"text": "CARM1", "start": 31, "end": 36}], "disease": [{"text": "aggressive behaviour", "start": 92, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The subjects homozygous for the PNPLA3 148M allele carrying the rare variant of TM6SF2 showed an odds ratio of 12. 2 (confidence interval 3. 8-39. 6, P = 0. 000001) to present hypertransaminasaemia compared with the remaining patients.", "output": {"entities": {"gene": [{"text": "PNPLA3", "start": 32, "end": 38}], "disease": [{"text": "hypertransaminasaemia", "start": 176, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into basal ganglia dysfunction in this form of hereditary parkinsonism, positron emission tomography (PET) with 18-fluorodopa (FDOPA) and 11C-raclopride (RAC) was performed in 5 affected family members and 5 asymptomatic relatives with proven compound heterozygous or heterozygous parkin mutations.", "output": {"entities": {"gene": [{"text": "RAC", "start": 170, "end": 173}], "disease": [{"text": "parkinsonism", "start": 74, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Administration of warfarin inhibited mesangial and glomerular hypertrophy and the increase in GFR and albuminuria in STZ rats.", "output": {"entities": {"gene": [{"text": "GFR", "start": 94, "end": 97}], "disease": [{"text": "albuminuria", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Most of the cases with minimal or mild chronic hepatitis were female, while most of male had moderate or severe chronic hepatitis, cirrhosis and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 145, "end": 148}], "disease": [{"text": "chronic hepatitis", "start": 39, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In the CNS, hypoxia/ischemia up-regulate sulfonylurea receptor 1 (SUR1)-regulated NCCa-ATP channels in microvascular endothelium, with channel activation by depletion of ATP being responsible for progressive secondary hemorrhage.", "output": {"entities": {"gene": [{"text": "SUR1", "start": 66, "end": 70}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "TLR4 Asp299Gly and Thr399Ile were significantly associated with the occurrence of NCC (P <. 001 for Asp299Gly; P =. 003 for Thr399Ile) and progression to symptomatic NCC, compared with control subjects (P <. 001 for Asp299Gly; P <. 001 for Thr399Ile) or asymptomatic NCC (P <. 001 for Asp299Gly; P =. 002 for Thr399Ile).", "output": {"entities": {"gene": [{"text": "NCC", "start": 82, "end": 85}], "disease": [{"text": "asymptomatic", "start": 254, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Therefore, DHMEQ in combination with TNF-alpha may be a promising treatment for pancreatic cancer.", "output": {"entities": {"gene": [{"text": "TNF", "start": 37, "end": 40}], "disease": [{"text": "pancreatic cancer", "start": 80, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TNF", "start": 37, "end": 40}, "tail": {"text": "pancreatic cancer", "start": 80, "end": 97}}]}}, "schema": []}
{"input": "Sucrose consumption was increased in DAT KO mice consistent with reduced anhedonia, and inconsistent with competitive hyperactivity; no increases were observed in SERT KO or NET KO mice.", "output": {"entities": {"gene": [{"text": "NET", "start": 174, "end": 177}], "disease": [{"text": "anhedonia", "start": 73, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The chronic heart failure-rescuing properties of myocardial S100A1 expression, the result of improved sarcoplasmic reticulum Ca2 + handling, included improved contractile function and left ventricular remodeling.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 125, "end": 128}], "disease": [{"text": "chronic heart failure", "start": 4, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In a case-control study restricted to a population from Northern Spain and utilizing 321 sporadic AD patients and 312 control subjects, we have found that the-850 TNF-alpha polymorphism does not interact with the APOE gene to increase the risk associated with the epsilon 4 allele.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 163, "end": 172}], "disease": [{"text": "sporadic", "start": 89, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In this study, therefore, we have determined whether dexamethasone (DEX) and pyrrolidine dithiocarbamate (PDTC), therapies that inhibit NF-κB, influence proteinuria.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 136, "end": 141}], "disease": [{"text": "proteinuria", "start": 153, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of Th2 cytokines in autoimmune thyroid diseases, we have studied by immunohistochemistry the expression of two Th2 ligand/receptor systems (CD30-L/CD30 and IL-6/IL-6R) in goitrous Graves' disease (GD) and Hashimoto' s thyroiditis (HT).", "output": {"entities": {"gene": [{"text": "CD30", "start": 162, "end": 166}], "disease": [{"text": "thyroid diseases", "start": 53, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 15, "end": 21}], "disease": [{"text": "JPS", "start": 75, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1A", "start": 15, "end": 21}, "tail": {"text": "JPS", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "These results suggest that a bacterial ligand of integrin alpha5beta1 may contribute to the aggressive behavior of RA FLSs by inducing the release of pro-inflammatory cytokines and a cartilage-degrading enzyme, such as IL-6 and MMP-3, respectively.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 219, "end": 223}], "disease": [{"text": "aggressive behavior", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.", "output": {"entities": {"gene": [{"text": "HTR3C", "start": 315, "end": 320}], "disease": [{"text": "regression", "start": 14, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "While there are over 100 distinct mutations in the rhodopsin gene that are found in patients with the degenerative disease autosomal dominant retinitis pigmentosa (ADRP), there are only four known mutations in the rhodopsin gene found in patients with the dysfunction congenital stationary night blindness (CSNB).", "output": {"entities": {"gene": [{"text": "ADRP", "start": 164, "end": 168}], "disease": [{"text": "congenital stationary night blindness", "start": 268, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.", "output": {"entities": {"gene": [{"text": "UROMODULIN", "start": 0, "end": 10}], "disease": [{"text": "familial juvenile hyperuricemic nephropathy", "start": 27, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UROMODULIN", "start": 0, "end": 10}, "tail": {"text": "familial juvenile hyperuricemic nephropathy", "start": 27, "end": 70}}]}}, "schema": []}
{"input": "Cryab-/-mice showed worse experimental autoimmune encephalomyelitis (EAE) at the acute and progressive phases, with higher Th1 and Th17 cytokine secretion from T cells and macrophages, and more intense CNS inflammation, compared with their wild-type counterparts.", "output": {"entities": {"gene": [{"text": "Th1", "start": 123, "end": 126}], "disease": [{"text": "inflammation", "start": 206, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Moreover, overexpression of SLIT2 in SMMC-7721 cells induced by recombinant adenovirus suppressed cell growth, migration, and invasion, These results suggest that epigenetic inactivation of SLIT2 in HCC may be important in the development and progression of HCC.", "output": {"entities": {"gene": [{"text": "SLIT2", "start": 28, "end": 33}], "disease": [{"text": "adenovirus", "start": 76, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The expression of CYP2J2 mRNA and protein in 130 specimens of human carcinoma and related adjacent normal tissues, four specimens of inflammatory pseudotumor tissues, eight human tumor cell lines and two normal cell lines (as control) was detected by reverse transcription-polymerase chain reaction (RT-PCR), western blot and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "CYP2J2", "start": 18, "end": 24}], "disease": [{"text": "carcinoma", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the expression of IL-13 and IL-4 mRNA in the bronchial mucosa of nine stable atopic asthmatics and 10 normal controls, characterized the major cellular source of IL-13 mRNA, and examined the colocalization of IL-13 and IL-4 mRNA.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 39, "end": 44}], "disease": [{"text": "atopic", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Gene set enhancement analysis (GSEA) demonstrates that elevated MMP10 expression correlates with both cancer stem cell and tumor metastasis genomic signatures in human lung cancer.", "output": {"entities": {"gene": [{"text": "MMP10", "start": 64, "end": 69}], "disease": [{"text": "lung cancer", "start": 168, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP10", "start": 64, "end": 69}, "tail": {"text": "lung cancer", "start": 168, "end": 179}}]}}, "schema": []}
{"input": "Hypochondroplasia in a child with 1620C & gt; G (Asn540Lys) mutation in FGFR3.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 72, "end": 77}], "disease": [{"text": "Hypochondroplasia", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 72, "end": 77}, "tail": {"text": "Hypochondroplasia", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "In summary, we describe rearrangement frequencies and novel rearrangement partners of the CIITA, FOXP1 and PDL loci at base-pair resolution in a rare, aggressive lymphoma.", "output": {"entities": {"gene": [{"text": "FOXP1", "start": 97, "end": 102}], "disease": [{"text": "aggressive lymphoma", "start": 151, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Silencing EPOR on glioma cells exposed to conventional treatments enhances senescence and induces a robust genomic instability that leads to caspase-dependent mitotic death by increasing the number of polyploid cells and cyclin B1 expression.", "output": {"entities": {"gene": [{"text": "EPOR", "start": 10, "end": 14}], "disease": [{"text": "genomic instability", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "In adult rabbits, mesenteric fat correlated to aortic lesion area, insulin resistance, fasting immunoreactive insulin, serum CRP, abdominal circumference and body weight.", "output": {"entities": {"gene": [{"text": "CRP", "start": 125, "end": 128}], "disease": [{"text": "insulin resistance", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Relative risk of death v the general population was assessed using standardised mortality ratios (SMR), which were compared by Poisson regression.", "output": {"entities": {"gene": [{"text": "SMR", "start": 98, "end": 101}], "disease": [{"text": "regression", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The hypothesis in this experiment was that adenovirus expression of human beta-defensin 6 (HBD6) would diminish concurrent PIV3 infection in neonatal lambs.", "output": {"entities": {"gene": [{"text": "defensin 6", "start": 79, "end": 89}], "disease": [{"text": "adenovirus", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In this study, in situ hybridization techniques were used to determine the location of interstitial collagenase and tissue inhibitor of metalloproteinase (TIMP) gene expression in samples from 11 squamous cell carcinomas of the head and neck (particularly the oral cavity) and from non-neoplastic mucosa of the same region.", "output": {"entities": {"gene": [{"text": "TIMP", "start": 155, "end": 159}], "disease": [{"text": "non-neoplastic", "start": 282, "end": 296}]}, "relations": {}}, "schema": []}
{"input": "Memory and naive-like regulatory CD4 + T cells expand during HIV-2 infection in direct association with CD4 + T-cell depletion irrespectively of viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 33, "end": 36}], "disease": [{"text": "viremia", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Herein, we examined the activity-dependent nuclear translocation of TORC1 (transducer of regulated CREB activity 1) and the expression of TORC1, phosphorylated CREB (pCREB) and BDNF (brain-derived neurotrophic factor) at the early time of ischemic stroke as well as after the treatment with TSA.", "output": {"entities": {"gene": [{"text": "CREB", "start": 99, "end": 103}], "disease": [{"text": "ischemic stroke", "start": 239, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Previously, seven PKD-related PRRT2 heterozygous mutations were identified in the Taiwanese population: P91QfsX, E199X, S202HfsX, R217PfsX, R217EfsX, R240X and R308C.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 30, "end": 35}], "disease": [{"text": "PKD", "start": 18, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRRT2", "start": 30, "end": 35}, "tail": {"text": "PKD", "start": 18, "end": 21}}]}}, "schema": []}
{"input": "This study analyzes how age and inflammation modify the response of the vesicular glutamate transporters (VGLUTs), VGLUT1-3 to global brain ischemia/reperfusion (I/R) in brain areas with different I/R vulnerabilities.", "output": {"entities": {"gene": [{"text": "VGLUT1", "start": 115, "end": 121}], "disease": [{"text": "inflammation", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "HSR treatment induced lung injury, as demonstrated by pulmonary edema with infiltration of neutrophils, the increase in lung W/D ratio, MPO activity, gene expression of TNF-alpha and iNOS, and DNA-binding activity of NF-kappaB, and enhanced expression of ICAM-1.", "output": {"entities": {"gene": [{"text": "MPO", "start": 136, "end": 139}], "disease": [{"text": "pulmonary edema", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The consequences of defective homologous recombination (HR) are not understood in sporadic ovarian cancer, nor have the potential role of HR proteins other than BRCA1 and BRCA2 been clearly defined.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 171, "end": 176}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The depression-like behavior was virtually abolished in TNF & #945; p55 receptor-knockout mice, and increased B1 receptor mRNA expression was completely absent in this mouse strain.", "output": {"entities": {"gene": [{"text": "p55", "start": 68, "end": 71}], "disease": [{"text": "depression", "start": 4, "end": 14}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p55", "start": 68, "end": 71}, "tail": {"text": "depression", "start": 4, "end": 14}}]}}, "schema": []}
{"input": "We hypothesized that MIF participates in the pathogenesis of eosinophilic esophagitis (EoE), an allergic condition characterized by esophageal eosinophilic inflammation.", "output": {"entities": {"gene": [{"text": "MIF", "start": 21, "end": 24}], "disease": [{"text": "eosinophilic esophagitis", "start": 61, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM #204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM #614253).", "output": {"entities": {"gene": [{"text": "MIM", "start": 176, "end": 179}], "disease": [{"text": "nephrocalcinosis", "start": 128, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best' s vitelliform macular dystrophy.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 62, "end": 66}], "disease": [{"text": "Best' s vitelliform macular dystrophy", "start": 102, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 62, "end": 66}, "tail": {"text": "Best' s vitelliform macular dystrophy", "start": 102, "end": 139}}]}}, "schema": []}
{"input": "Syndromic and sporadic FGPs without dysplasia exhibited similar proliferative activity, degree of apoptosis, beta-catenin and p53 expression.", "output": {"entities": {"gene": [{"text": "p53", "start": 126, "end": 129}], "disease": [{"text": "sporadic", "start": 14, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Wortmannin, a phosphatidylinositol 3-kinase (PI3K) inhibitor, abolished the increase in the P-Ser/Thr content of IRS-1, its dissociation from the IR, and the decrease in its P-Tyr content following 60 min of insulin treatment, indicating that the Ser kinases that negatively regulate IRS-1 function are downstream effectors of PI3K.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 45, "end": 49}], "disease": [{"text": "dissociation", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "This effect appears to be mediated by direct contact, or even adhesion, between the platelets and endothelial cells and via NFκB-dependent signaling.", "output": {"entities": {"gene": [{"text": "NFκB", "start": 124, "end": 128}], "disease": [{"text": "adhesion", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Present study was designed for carrying out the mutational analysis of the entire Androgen receptor (AR) gene including two microsatellite (CAG) n, (GGN) n, promoter region in cases of premature ovarian failure (POF) and primary amenorrhea (PA).", "output": {"entities": {"gene": [{"text": "GGN", "start": 149, "end": 152}], "disease": [{"text": "primary amenorrhea", "start": 221, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, IRF4-deficient mice were protected from T cell-dependent chronic intestinal inflammation in trinitrobenzene sulfonic acid-and oxazolone-induced colitis.", "output": {"entities": {"gene": [{"text": "IRF4", "start": 13, "end": 17}], "disease": [{"text": "inflammation", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "JPH203, an L-type amino acid transporter 1-selective compound, induces apoptosis of YD-38 human oral cancer cells.", "output": {"entities": {"gene": [{"text": "L-type amino acid transporter 1", "start": 11, "end": 42}], "disease": [{"text": "oral cancer", "start": 96, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The mutant, AANAT knocked down C57BL/6J mice displayed significantly longer times of immobility (\" depression \").", "output": {"entities": {"gene": [{"text": "AANAT", "start": 12, "end": 17}], "disease": [{"text": "depression", "start": 99, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AANAT", "start": 12, "end": 17}, "tail": {"text": "depression", "start": 99, "end": 109}}]}}, "schema": []}
{"input": "Little is known on the immune response after neoadjuvant chemotherapy (NACT) in gastric cancer (GC).", "output": {"entities": {"gene": [{"text": "NACT", "start": 71, "end": 75}], "disease": [{"text": "gastric cancer", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "T2-and T1-lesion volumes (LVs) and brain atrophy measures [fractions of brain parenchyma (BPF), gray matter (GMF), and white matter (WMF)] were calculated.", "output": {"entities": {"gene": [{"text": "GMF", "start": 109, "end": 112}], "disease": [{"text": "brain atrophy", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Subjects with leukocyte adhesion deficiency-1 (LAD-I) do not express beta2 integrins because of mutations in the gene specifying the beta2 subunit, and they suffer recurrent bacterial infections.", "output": {"entities": {"gene": [{"text": "beta2", "start": 69, "end": 74}], "disease": [{"text": "leukocyte adhesion deficiency", "start": 14, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Circulating sex hormone-binding globulin levels are inversely associated with insulin resistance, but whether these levels can predict the risk of developing type 2 diabetes is uncertain.", "output": {"entities": {"gene": [{"text": "sex hormone-binding globulin", "start": 12, "end": 40}], "disease": [{"text": "insulin resistance", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "This case suggests that the IGH/BCL3 translocation may help to define a new clinicopathologic entity.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 32, "end": 36}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance.", "output": {"entities": {"gene": [{"text": "TPM2", "start": 39, "end": 43}], "disease": [{"text": "cap disease", "start": 83, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPM2", "start": 39, "end": 43}, "tail": {"text": "cap disease", "start": 83, "end": 94}}]}}, "schema": []}
{"input": "Consecutive patients with >/= 50% carotid stenosis, whether symptomatic (with ipsilateral ischemic events) or asymptomatic, who were evaluated and followed in a neurovascular clinic were tested for plasma levels of homocysteine, C677T mutation in methylenetetrahydrofolate reductase, G20210A mutation of factor II, factor V Leiden, antiphospholipid antibodies, and polymorphisms of platelet membrane GP: human platelet antigen (HPA)-1, GP Ia (C807T), and GP Ib (variable number of tandem repeats, Kozak, and HPA-2).", "output": {"entities": {"gene": [{"text": "GP Ia", "start": 436, "end": 441}], "disease": [{"text": "carotid stenosis", "start": 34, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in ADCY8 and ADCY5 and within a lincRNA are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression.", "output": {"entities": {"gene": [{"text": "ADCY5", "start": 27, "end": 32}], "disease": [{"text": "depression", "start": 161, "end": 171}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADCY5", "start": 27, "end": 32}, "tail": {"text": "depression", "start": 161, "end": 171}}]}}, "schema": []}
{"input": "Using coimmunoprecipitation and fluorescence resonance energy transfer analysis, we found that the N-terminal domain of hypermethylated in cancer 1 interacts with the proximal set of zinc fingers of ecotropic viral integration site 1.", "output": {"entities": {"gene": [{"text": "viral integration site 1", "start": 209, "end": 233}], "disease": [{"text": "cancer", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "As expected, a progressive increase of mutant allele burden was observed from essential thrombocythemia (ET) to polycythemia vera (PV) and primary myelofibrosis (PMF) to secondary myelofibrosis (SMF).", "output": {"entities": {"gene": [{"text": "SMF", "start": 195, "end": 198}], "disease": [{"text": "essential thrombocythemia", "start": 78, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The polymorphic glutathione S-transferase (GST), N-acetyltransferase (NAT), and cytochrome P450 (CYP) enzymes are of particular interest in prostate cancer susceptibility because of their ability to metabolize both endogenous and exogenous compounds, including dietary constituents.", "output": {"entities": {"gene": [{"text": "NAT", "start": 70, "end": 73}], "disease": [{"text": "prostate cancer susceptibility", "start": 140, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In study B we tested (in blind fashion) 89 recoded sample sera or standards that were part of the larger group used in the Second International GAD Antibody Workshop, finding GAD65 autoantibodies in 3. 3% of healthy control subjects (1/30), 60% of IDDM patients (18/30), 100% of ICA + nondiabetic subjects (3/3) but in none of 4 nondiabetic patients with Graves disease.", "output": {"entities": {"gene": [{"text": "GAD65", "start": 175, "end": 180}], "disease": [{"text": "blind", "start": 25, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Suppression of NF-kappaB activity in PC-3 cells by a mutant IkappaBalpha super-repressor adenoviral vector decreased the CXCR4 mRNA expression and inhibited adhesion and TEM.", "output": {"entities": {"gene": [{"text": "IkappaBalpha", "start": 60, "end": 72}], "disease": [{"text": "adhesion", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%.", "output": {"entities": {"gene": [{"text": "LRRN1", "start": 177, "end": 182}], "disease": [{"text": "metastases", "start": 275, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "We found mutations of VPS13A, VPS13B, VPS13C, VPS33A, VPS35, VPS37B, VPS41, and VPS54 in 9, 3, 12, 3, 5, 9, 2, and 2 cancers, respectively, all in cancers with high microsatellite instability.", "output": {"entities": {"gene": [{"text": "VPS13B", "start": 30, "end": 36}], "disease": [{"text": "cancers", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Reduction of EphA2 phosphorylation by LCA may represent a novel approach for future anti-apoptotic treatment of heart failure and atrial fibrillation.", "output": {"entities": {"gene": [{"text": "EphA2", "start": 13, "end": 18}], "disease": [{"text": "atrial fibrillation", "start": 130, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Analysis of tissue arrays of human melanoma samples suggests that ERBB3 signaling may also contribute to metastatic progression of melanoma as ERBB3 was phosphorylated in primary tumors compared with nevi or metastatic lesions.", "output": {"entities": {"gene": [{"text": "ERBB3", "start": 66, "end": 71}], "disease": [{"text": "nevi", "start": 200, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "VEGF and hypoxia increased Ets-1 expression in cultured bovine retinal endothelial cells.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 27, "end": 32}], "disease": [{"text": "hypoxia", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.", "output": {"entities": {"gene": [{"text": "cone-rod homeobox", "start": 17, "end": 34}], "disease": [{"text": "cone-rod dystrophy", "start": 64, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cone-rod homeobox", "start": 17, "end": 34}, "tail": {"text": "cone-rod dystrophy", "start": 64, "end": 82}}]}}, "schema": []}
{"input": "We studied gene variants of Tachykinin Receptor 1 (TACR1-rs3771810, rs3771825, rs726506, rs1477157) in 167 German suicide attempters (affective spectrum n = 107, schizophrenia spectrum n = 35, borderline personality disorder n = 25), 92 Caucasian individuals who committed suicide and 312 German healthy subjects.", "output": {"entities": {"gene": [{"text": "TACR1", "start": 51, "end": 56}], "disease": [{"text": "personality disorder", "start": 204, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that alterations of the BRCA1 and BRCA2 genes are not common pathogenetic events in the development of sporadic meningiomas.", "output": {"entities": {"gene": [{"text": "BRCA2 genes", "start": 56, "end": 67}], "disease": [{"text": "sporadic", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "143B-LacZ-X7-HA cells co-expressing CXCR7 and CXCR4 exhibited CXCL12 scavenging and enhanced adhesion to IL-1β-activated HUVEC cells compared to 143B-LacZ cells expressing CXCR4 alone.", "output": {"entities": {"gene": [{"text": "CXCR7", "start": 36, "end": 41}], "disease": [{"text": "adhesion", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "By treating human NT-2 cells with heat-shock stress, we found that both the mRNA levels for prion protein (PrP) and heat shock protein 70 (HSP70) increased simultaneously after heat treatment.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 139, "end": 144}], "disease": [{"text": "shock", "start": 39, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Therefore, this study defines the specific interplay between the cellular transactivator Brn-3a, the environmental smoking-related substance nicotine and specific HPV variants in cervical carcinogenesis, and thus helps to explain why some women are susceptible to rapid CIN progression and cancer and others are not.", "output": {"entities": {"gene": [{"text": "Brn-3a", "start": 89, "end": 95}], "disease": [{"text": "CIN", "start": 270, "end": 273}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Brn-3a", "start": 89, "end": 95}, "tail": {"text": "CIN", "start": 270, "end": 273}}]}}, "schema": []}
{"input": "We studied three polymorphisms of the factor VII gene, 5' FT, IVS7, and R353Q polymorphisms, for 493 Japanese subjects consisting of 285 subjects without clinical evidence of ischemic heart disease (non-IHD group) and 208 myocardial infarction patients (myocardial infarction group).", "output": {"entities": {"gene": [{"text": "factor VII", "start": 38, "end": 48}], "disease": [{"text": "ischemic heart disease", "start": 175, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Additional studies will examine whether glyoxalase-I has an impact beyond that of a biomarker to predict the genetic predisposition to anxiety-and depression-like behavior.", "output": {"entities": {"gene": [{"text": "glyoxalase-I", "start": 40, "end": 52}], "disease": [{"text": "depression", "start": 147, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glyoxalase-I", "start": 40, "end": 52}, "tail": {"text": "depression", "start": 147, "end": 157}}]}}, "schema": []}
{"input": "Exome sequencing revealed a homozygous nonsense variant (c. 478C & gt; T, p. [Arg160 *]) in the FAM92A gene within the mapped region on 8q21. 13-q24. 12 that segregated with the PAPA phenotype.", "output": {"entities": {"gene": [{"text": "FAM92A", "start": 96, "end": 102}], "disease": [{"text": "PAPA", "start": 178, "end": 182}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM92A", "start": 96, "end": 102}, "tail": {"text": "PAPA", "start": 178, "end": 182}}]}}, "schema": []}
{"input": "In the adjusted model, the hazard ratios for celiac disease autoimmunity were 2. 09 (95% confidence interval [CI], 1. 70 to 2. 56) among heterozygotes and 5. 70 (95% CI, 4. 66 to 6. 97) among homozygotes, as compared with children who had the lowest-risk genotypes (DR4-DQ8 heterozygotes or homozygotes).", "output": {"entities": {"gene": [{"text": "DR4", "start": 266, "end": 269}], "disease": [{"text": "celiac disease", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "These functional observations were strengthened by genetic evidence: somatic loss-of-function mutations in PPARG, encoding PPARgamma, in sporadic colorectal carcinomas and somatic translocation of PAX8 and PPARG in follicular thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 107, "end": 112}], "disease": [{"text": "translocation", "start": 180, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Targeting phospholipase D1 attenuates intestinal tumorigenesis by controlling β-catenin signaling in cancer-initiating cells.", "output": {"entities": {"gene": [{"text": "phospholipase D1", "start": 10, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "To examine the potential role of STK15 in ovarian tumorigenesis, its mRNA and protein expression status were examined in cells grown in culture from 15 ovarian cancer specimens using semiquantitative RT-PCR and Western blot analysis.", "output": {"entities": {"gene": [{"text": "STK15", "start": 33, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Meta-analysis was performed for 17 genetic polymorphisms: apolipoprotein E (ε2, ε3, ε4), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), coagulation factor II (rs1799963]), coagulation factor V (rs6025), coagulation factor VII (rs5742910/rs6046), interleukin-6 (IL-6) (rs1800795), endothelial nitric oxide (rs1800779/rs1799983/rs3918226), fibrinogen β-polypeptide (rs1800790), plasminogen activator inhibitor 1 (rs1799768/rs7242), TNF-β lymphotoxin α precursor (rs1041981), adducin 1 (α) (rs4961), ADRB2 (rs1042714), and tumour necrosis factor α (rs1800629).", "output": {"entities": {"gene": [{"text": "coagulation factor II", "start": 146, "end": 167}], "disease": [{"text": "fibrinogen", "start": 348, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "TA was detected in all HCC tissues compared with 15. 6% of chronic hepatitis (P < 0. 001) and none of controls (P < 0. 001).", "output": {"entities": {"gene": [{"text": "HCC", "start": 23, "end": 26}], "disease": [{"text": "chronic hepatitis", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, in lung adenomas Cx32 and Cx43 expressions were not detected, although the expression of connexins 26 and 46 was present.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 31, "end": 35}], "disease": [{"text": "adenomas", "start": 22, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cx32", "start": 31, "end": 35}, "tail": {"text": "adenomas", "start": 22, "end": 30}}]}}, "schema": []}
{"input": "In sarcoidosis, IFN-gamma producing cells are CD4 T cells and are associated with IL-1 beta gene expressing monocytic cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 46, "end": 49}], "disease": [{"text": "sarcoidosis", "start": 3, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "After transfection with effective Mta1 gene siRNA, the effects on proliferation, anoikis, migration, invasion and adhesion of A2780 cells were tested by MTT assay, flow cytometry, wound-healing assay, Transwell assay and adhesion assay.", "output": {"entities": {"gene": [{"text": "Mta1 gene", "start": 34, "end": 43}], "disease": [{"text": "adhesion", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Significant genetic correlations existed between LVM and SV after adjusting for age, sex, race, field center, systolic blood pressure, number of antihypertensive medications, and body mass index (rhog = 0. 93 in African-Americans and 0. 70 in Caucasians; both P < 0. 0001).", "output": {"entities": {"gene": [{"text": "rhog", "start": 196, "end": 200}], "disease": [{"text": "systolic blood pressure", "start": 110, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Our study supported that certain HLA-DP alleles in concert with HPV16 could have a predisposition for cervical cancer development, which may be translated for triage of hrHPV-positive women.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 33, "end": 39}], "disease": [{"text": "cervical cancer", "start": 102, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies.", "output": {"entities": {"gene": [{"text": "PIP5K1B", "start": 78, "end": 85}], "disease": [{"text": "albuminuria", "start": 242, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "We screened the HSD3B2 gene for mutations in girls with premature pubarche and a hormonal diagnosis of 3beta-hydroxysteroid dehydrogenase deficiency.", "output": {"entities": {"gene": [{"text": "HSD3B2", "start": 16, "end": 22}], "disease": [{"text": "3beta-hydroxysteroid dehydrogenase deficiency", "start": 103, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD3B2", "start": 16, "end": 22}, "tail": {"text": "3beta-hydroxysteroid dehydrogenase deficiency", "start": 103, "end": 148}}]}}, "schema": []}
{"input": "Analogous to EBV-associated lymphoproliferative disorders in immunocompromised humans, the human lymphomas in these HCC xenografts likely developed from reactivation of latent EBV in intratumoral passenger B lymphocytes following their xenotransplantation into immunodeficient recipient mice.", "output": {"entities": {"gene": [{"text": "HCC", "start": 116, "end": 119}], "disease": [{"text": "lymphomas", "start": 97, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.", "output": {"entities": {"gene": [{"text": "TBC1D7", "start": 14, "end": 20}], "disease": [{"text": "megalencephaly", "start": 97, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBC1D7", "start": 14, "end": 20}, "tail": {"text": "megalencephaly", "start": 97, "end": 111}}]}}, "schema": []}
{"input": "As an approach for HCC therapy, suicide gene therapy using ganciclovir (GCV) with transfer of the herpes thymidine kinase (HSVtk) gene was tested.", "output": {"entities": {"gene": [{"text": "HCC", "start": 19, "end": 22}], "disease": [{"text": "herpes", "start": 98, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Variation in DNAH1 may contribute to primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "DNAH1", "start": 13, "end": 18}], "disease": [{"text": "primary ciliary dyskinesia", "start": 37, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNAH1", "start": 13, "end": 18}, "tail": {"text": "primary ciliary dyskinesia", "start": 37, "end": 63}}]}}, "schema": []}
{"input": "Renal AM level and its mRNA expression were increased in rats with GN compared with controls (Peptide Cortex: + 69%; Medulla: + 82%; mRNA Cortex: + 25%).", "output": {"entities": {"gene": [{"text": "AM", "start": 6, "end": 8}], "disease": [{"text": "GN", "start": 67, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AM", "start": 6, "end": 8}, "tail": {"text": "GN", "start": 67, "end": 69}}]}}, "schema": []}
{"input": "NQO1 activity was determined in cytosol from normal, APAP and PBC liver specimens.", "output": {"entities": {"gene": [{"text": "NQO1", "start": 0, "end": 4}], "disease": [{"text": "liver", "start": 66, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NQO1", "start": 0, "end": 4}, "tail": {"text": "liver", "start": 66, "end": 71}}]}}, "schema": []}
{"input": "The exact biological role of TNAP in the human brain is still not known and the pathophysiology of neurological symptoms due to TNAP deficiency in HPP is not understood in detail.", "output": {"entities": {"gene": [{"text": "TNAP", "start": 29, "end": 33}], "disease": [{"text": "neurological symptoms", "start": 99, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The fourth OS patient had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosynthesis.", "output": {"entities": {"gene": [{"text": "PIGQ", "start": 50, "end": 54}], "disease": [{"text": "OS", "start": 11, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGQ", "start": 50, "end": 54}, "tail": {"text": "OS", "start": 11, "end": 13}}]}}, "schema": []}
{"input": "Human HCC cells (MHCC97L, BEL-7404) were infected with adenovirus-expressing PPARγ (Ad-PPARγ) or Ad-lacZ and treated with or without PPARγ agonist (rosiglitazone).", "output": {"entities": {"gene": [{"text": "HCC", "start": 6, "end": 9}], "disease": [{"text": "adenovirus", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Positive p53 staining correlates with the presence of TP53 hotspot mutations in both BRCA1-related and sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 9, "end": 12}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We generated a transgenic mouse with conditional, cardiomyocyte-specific NOS1 overexpression (double-transgenic [DT]) and studied cardiac remodeling, myocardial Ca (2 +) handling, and contractility in DT and control mice subjected to transverse aortic constriction (TAC).", "output": {"entities": {"gene": [{"text": "NOS1", "start": 73, "end": 77}], "disease": [{"text": "constriction", "start": 252, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "The expressions of STEAP4, TNFα, and IL-6 were compared in synovia of RA and osteoarthritis patients.", "output": {"entities": {"gene": [{"text": "STEAP4", "start": 19, "end": 25}], "disease": [{"text": "osteoarthritis", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resulting in a loss-of-function.", "output": {"entities": {"gene": [{"text": "ATP13A2", "start": 41, "end": 48}], "disease": [{"text": "KRS", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP13A2", "start": 41, "end": 48}, "tail": {"text": "KRS", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Moreover, suppression of Jumonji domain containing 1A expression in hepatocellular carcinoma cell lines under hypoxic conditions reduced cell growth inhibition, reduced invasion ability, and arrested epithelial-mesenchymal transitions.", "output": {"entities": {"gene": [{"text": "Jumonji", "start": 25, "end": 32}], "disease": [{"text": "hypoxic", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We report 2 novel, cryptic chromosomal abnormalities in precursor B-cell acute lymphoblastic leukemia (BCP-ALL): a translocation, either t (X; 14) (p22; q32) or t (Y; 14) (p11; q32), in 33 patients and an interstitial deletion, either del (X) (p22. 33p22. 33) or del (Y) (p11. 32p11. 32), in 64 patients, involving the pseudoautosomal region (PAR1) of the sex chromosomes.", "output": {"entities": {"gene": [{"text": "BCP", "start": 103, "end": 106}], "disease": [{"text": "translocation", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Gender-specific genetic associations of polymorphisms in ACE, AKR1C2, FTO and MMP2 with weight gain over a 10-year period.", "output": {"entities": {"gene": [{"text": "ACE", "start": 57, "end": 60}], "disease": [{"text": "weight gain", "start": 88, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ACE", "start": 57, "end": 60}, "tail": {"text": "weight gain", "start": 88, "end": 99}}]}}, "schema": []}
{"input": "Methylation of the promoter regions of p16 and CDH13 in both tumor and mediastinal lymph nodes was associated with an odds ratio of recurrent cancer of 15. 50 in the original cohort and an odds ratio of 25. 25 when the original cohort was combined with an independent validation cohort of 20 patients with stage I NSCLC.", "output": {"entities": {"gene": [{"text": "CDH13", "start": 47, "end": 52}], "disease": [{"text": "recurrent cancer", "start": 132, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Here, we have investigated the consequences of Dusp1-deficiency in colon ascendens stent peritonitis (CASP) and caecal ligation and puncture (CLP), two mouse models of septic peritonitis.", "output": {"entities": {"gene": [{"text": "CLP", "start": 142, "end": 145}], "disease": [{"text": "peritonitis", "start": 89, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.", "output": {"entities": {"gene": [{"text": "TULP1", "start": 6, "end": 11}], "disease": [{"text": "leber congenital amaurosis", "start": 29, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TULP1", "start": 6, "end": 11}, "tail": {"text": "leber congenital amaurosis", "start": 29, "end": 55}}]}}, "schema": []}
{"input": "CIN is sustained by deficiencies in proteins, such as the tumor suppressor p53 [3-5], that police genome integrity, but the primary cause of CIN in sporadic cancers remains uncertain [6, 7].", "output": {"entities": {"gene": [{"text": "tumor suppressor p53", "start": 58, "end": 78}], "disease": [{"text": "sporadic", "start": 148, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "A single immunoreactive band at 50 kd was detected with Csk antibody in normal liver (NL), chronic hepatitis (CH), and nontumorous cirrhotic (NTC) segments of HCC of patients and LEC rats.", "output": {"entities": {"gene": [{"text": "HCC", "start": 159, "end": 162}], "disease": [{"text": "chronic hepatitis", "start": 91, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, in the CA1 region where cell death occurs in this model, ARF4L mRNA was slightly detected from 1 to 2 days after ischemia but was absent after 3 days.", "output": {"entities": {"gene": [{"text": "CA1", "start": 26, "end": 29}], "disease": [{"text": "ischemia", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Recent reports have suggested that ARP is mutated in a high percentage of different human tumors.", "output": {"entities": {"gene": [{"text": "ARP", "start": 35, "end": 38}], "disease": [{"text": "tumors", "start": 90, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Among patients with the CYP2C19 PM phenotype, sufficient, sustained reflux symptom relief was higher with omeprazole than with rabeprazole on days 4-7 (62. 5-66. 9 vs. 31. 6%; p ≤ 0. 03); differences were not significant on days 1-3, or among those with the homoEM or heteroEM phenotypes on days 1-7.", "output": {"entities": {"gene": [{"text": "CYP2C19", "start": 24, "end": 31}], "disease": [{"text": "reflux", "start": 68, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of exon 9 of SH3BP2 was normal in all sporadic nonsyndromic giant cell lesions.", "output": {"entities": {"gene": [{"text": "SH3BP2", "start": 24, "end": 30}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "CD47 function-blocking antibodies inhibit proliferation of untreated U87 and U373 cells but not normal astrocytes, suggesting that CD47 may be constitutively activated in astrocytoma.", "output": {"entities": {"gene": [{"text": "U87", "start": 69, "end": 72}], "disease": [{"text": "astrocytoma", "start": 171, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Similarly, we recently discovered that genetic variation in components of the stress-related hypothalamic pituitary adrenocortical axis, T-box 19 and corticotropin releasing hormone receptor 1, showed association and linkage to high anger/hostility in and male depression the suicidal offspring, respectively.", "output": {"entities": {"gene": [{"text": "T-box 19", "start": 137, "end": 145}], "disease": [{"text": "depression", "start": 261, "end": 271}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "T-box 19", "start": 137, "end": 145}, "tail": {"text": "depression", "start": 261, "end": 271}}]}}, "schema": []}
{"input": "CES2, ABCG2, TS and Topo-I primary and synchronous metastasis expression and clinical outcome in metastatic colorectal cancer patients treated with first-line FOLFIRI regimen.", "output": {"entities": {"gene": [{"text": "CES2", "start": 0, "end": 4}], "disease": [{"text": "metastasis", "start": 51, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "As an outcome of the translocation, an evolutionarily conserved non-coding VISTA enhancer element from 13q21. 31 is placed within the TRPS1 5' region, 1, 294 bp from the breakpoint.", "output": {"entities": {"gene": [{"text": "VISTA", "start": 75, "end": 80}], "disease": [{"text": "translocation", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Imatinib resistant chronic myelogenous leukemia, BCR-ABL positive by chromosome and FISH analyses but negative by PCR, in a child progressing to acute basophilic leukemia: cytogenetic follow-up.", "output": {"entities": {"gene": [{"text": "FISH", "start": 84, "end": 88}], "disease": [{"text": "acute basophilic leukemia", "start": 145, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Pancreatic blood flow (PBF), plasma lipase, interleukin-1beta (IL-1beta), interleukin-10, pancreatic cells proliferation and morphological signs of pancreatitis were determined.", "output": {"entities": {"gene": [{"text": "PBF", "start": 23, "end": 26}], "disease": [{"text": "pancreatitis", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to map the amplified 8p12-p11 region in a large set of breast tumors in an effort to identify the genetic driver and to explore its impact on tumor progression and prognosis.", "output": {"entities": {"gene": [{"text": "p11", "start": 51, "end": 54}], "disease": [{"text": "tumor progression", "start": 167, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of NRP-1 mRNA and EGF-R protein in seven human gastric cancer cell lines.", "output": {"entities": {"gene": [{"text": "NRP", "start": 30, "end": 33}], "disease": [{"text": "gastric cancer", "start": 74, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation (p. T605G) within the uromodulin GPI anchor signal segment was identified in the affected individuals of this FJHN family.", "output": {"entities": {"gene": [{"text": "uromodulin", "start": 39, "end": 49}], "disease": [{"text": "FJHN", "start": 127, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "uromodulin", "start": 39, "end": 49}, "tail": {"text": "FJHN", "start": 127, "end": 131}}]}}, "schema": []}
{"input": "We hypothesize that differences in the expression of selected tumor suppressor genes, cell surface adhesion molecules, and multidrug resistance glycoproteins could account for some of the reported differences between uterine serous carcinoma (USC) and extrauterine serous carcinomas (ESC), including ovarian and primary peritoneal carcinoma (OSC and PSC, respectively).", "output": {"entities": {"gene": [{"text": "OSC", "start": 342, "end": 345}], "disease": [{"text": "carcinomas", "start": 272, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "This is the first clinically, biochemically, and genetically identified child case of spinal stenosis and paraparesis associated with PHP-Ia, having a novel GNAS mutation in Korea.", "output": {"entities": {"gene": [{"text": "GNAS", "start": 157, "end": 161}], "disease": [{"text": "paraparesis", "start": 106, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.", "output": {"entities": {"gene": [{"text": "UTR", "start": 20, "end": 23}], "disease": [{"text": "frontotemporal lobar degeneration", "start": 64, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNA6", "start": 112, "end": 118}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA6", "start": 112, "end": 118}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "The loss of anchorage-independent growth is associated with increased anoikis and defects in AKT and extracellular signal-regulated kinase activation upon loss of adhesion.", "output": {"entities": {"gene": [{"text": "AKT", "start": 93, "end": 96}], "disease": [{"text": "adhesion", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Ala139 Thr mutation of the GPIX gene in this patient is a novel missense mutation, which has not been reported in BSS.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 27, "end": 31}], "disease": [{"text": "BSS", "start": 114, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIX", "start": 27, "end": 31}, "tail": {"text": "BSS", "start": 114, "end": 117}}]}}, "schema": []}
{"input": "The cyclin E-cyclin-dependent kinase 2 (CDK2) complex accelerates entry into the S phase of the cell cycle and promotes polyploidy, which may contribute to genomic instability in cancer cells.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 4, "end": 12}], "disease": [{"text": "genomic instability", "start": 156, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-function mutations in PALB2 are an important cause of hereditary breast cancer, with respect both to the frequency of cancer-predisposing mutations and to the risk associated with them.", "output": {"entities": {"gene": [{"text": "PALB2", "start": 30, "end": 35}], "disease": [{"text": "hereditary breast cancer", "start": 62, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PALB2", "start": 30, "end": 35}, "tail": {"text": "hereditary breast cancer", "start": 62, "end": 86}}]}}, "schema": []}
{"input": "Using cell culture model systems, we found that Emi1 overexpression leads to proliferation, tetraploidy and genome instability of cells deficient for p53.", "output": {"entities": {"gene": [{"text": "Emi1", "start": 48, "end": 52}], "disease": [{"text": "genome instability", "start": 108, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Within the largest contributing cohort of our analysis, lung function, as assessed by forced expiratory volume at 1 second, varied significantly by FTO genotype.", "output": {"entities": {"gene": [{"text": "FTO", "start": 148, "end": 151}], "disease": [{"text": "forced expiratory volume", "start": 86, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Our results define a key effect of PIK3CA (H1047R) on mammary cell fate in the pre-neoplastic mammary gland and show that the cell of origin of PIK3CA (H1047R) tumours dictates their malignancy, thus revealing a mechanism underlying tumour heterogeneity and aggressiveness.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 35, "end": 41}], "disease": [{"text": "aggressiveness", "start": 258, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "In a number of different cancer including endometrial cancers, tumor suppressor phosphatase tensin homologue (PTEN, a lipid phosphatase) is frequently mutated.", "output": {"entities": {"gene": [{"text": "tensin", "start": 92, "end": 98}], "disease": [{"text": "cancer", "start": 25, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 49, "end": 54}], "disease": [{"text": "B-ALL", "start": 64, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RUNX1", "start": 49, "end": 54}, "tail": {"text": "B-ALL", "start": 64, "end": 69}}]}}, "schema": []}
{"input": "We have shown that the two-hit model requires modification for the APC TSG, because mutant APC proteins probably retain some function and the two hits are co-selected to produce an optimal level of Wnt activation.", "output": {"entities": {"gene": [{"text": "TSG", "start": 71, "end": 74}], "disease": [{"text": "hit", "start": 27, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "All sporadic and 7/20 hereditary tumors showed p53 gene mutations.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 47, "end": 55}], "disease": [{"text": "sporadic", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "In contrast, mice depleted of neutrophils alone or neutrophils and CD4 (+) T cells developed clinical and pathological evidence of pulmonary aspergillosis and increased mortality (P < 0 · 05 compared to non-depleted animals).", "output": {"entities": {"gene": [{"text": "CD4", "start": 67, "end": 70}], "disease": [{"text": "pulmonary aspergillosis", "start": 131, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This leads to translocation of GRK2, subsequent phosphorylation of the D1-like receptor, its uncoupling from G proteins and loss of responsiveness to agonist stimulation.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 31, "end": 35}], "disease": [{"text": "translocation", "start": 14, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Patients aged > 45 years with significant intracranial stenosis (IC group) or extracranial carotid artery stenosis (EC group) diagnosed by duplex ultrasound and/or computed tomography angiography (CTA) or magnetic resonance angiography (MRA) were studied.", "output": {"entities": {"gene": [{"text": "CTA", "start": 197, "end": 200}], "disease": [{"text": "stenosis", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "To validate these predictions, we have found that hypoxia and BMP receptor type 2 signaling independently upregulate miR-21 in cultured pulmonary arterial endothelial cells.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 117, "end": 123}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data support the idea that ineffective CD40/CD40L interactions determine both abortive germinal center cell reaction as well as severe depletion and phenotypical abnormalities of follicular dendritic cells, thus impairing the functional development of B follicles.", "output": {"entities": {"gene": [{"text": "CD40", "start": 61, "end": 65}], "disease": [{"text": "abnormalities", "start": 184, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "At least some of the beneficial effects of mIGF1 transgene expression were due to mIGF1 counteracting the strong increase in CTGF expression within cardiomyocytes caused by SRF deficiency, resulting in the blockade of fibroblast proliferation and related myocardial fibrosis.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 125, "end": 129}], "disease": [{"text": "myocardial fibrosis", "start": 255, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Fourteen of 48 UMs and three of 14 cell lines (over-) express EGFR, at least in part due to trisomy of the EGFR locus on chromosome 7p12.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 62, "end": 66}], "disease": [{"text": "trisomy", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The CSD helped in recovery of body weight, enhanced oxidative stress, and increased levels of a muscle impairment marker, creatine phosphokinase (CPK) induced by ALDH2 * 2.", "output": {"entities": {"gene": [{"text": "CPK", "start": 146, "end": 149}], "disease": [{"text": "body weight", "start": 30, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Therefore, these CASP8 and CASP10 polymorphisms may be biomarkers for susceptibility to CM.", "output": {"entities": {"gene": [{"text": "CASP10", "start": 27, "end": 33}], "disease": [{"text": "CM", "start": 88, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASP10", "start": 27, "end": 33}, "tail": {"text": "CM", "start": 88, "end": 90}}]}}, "schema": []}
{"input": "The loss of PIN1 deregulates cyclin E and sensitizes mouse embryo fibroblasts to genomic instability.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 29, "end": 37}], "disease": [{"text": "genomic instability", "start": 81, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether targeting of HIF-1 using chetomin, a disrupter of the interaction of HIF-1 with the transcriptional coactivator p300, influences the radiosensitivity of hypoxic HT 1080 human fibrosarcoma cells.", "output": {"entities": {"gene": [{"text": "p300", "start": 136, "end": 140}], "disease": [{"text": "fibrosarcoma", "start": 199, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "To elucidate their roles in dioxin-induced teratogenesis, we compared Cyp1a1 (-/-), Cyp1a2 (-/-), and Cyp1b1 (-/-) knock-out mice with Cyp1 (+/+) wild-type mice.", "output": {"entities": {"gene": [{"text": "Cyp1a2", "start": 84, "end": 90}], "disease": [{"text": "teratogenesis", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Real-time reverse transcriptase-polymerase chain reaction was performed to observe rhoA and rhoC in esophageal cell lines.", "output": {"entities": {"gene": [{"text": "rhoC", "start": 92, "end": 96}], "disease": [{"text": "esophageal", "start": 100, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.", "output": {"entities": {"gene": [{"text": "FISH", "start": 156, "end": 160}], "disease": [{"text": "developmental delay", "start": 38, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "To examine the frequency of TLR4 C1196T genotypes in postmenopausal osteoporotic and non-osteoporotic Polish women and to investigate the possible relationship between C1196T polymorphism, bone mineral density (BMD) and the incidence of osteoporotic fractures in this group of patients.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 28, "end": 32}], "disease": [{"text": "bone mineral density", "start": 189, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "In this study we established a novel animal model of acute respiratory distress syndrome caused by the dysfunction of alveolar epithelial type II (AE2) cells and examined the roles of alveolar macrophages in the acute lung injury.", "output": {"entities": {"gene": [{"text": "AE2", "start": 147, "end": 150}], "disease": [{"text": "acute respiratory distress syndrome", "start": 53, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The expression of Egr-1, c-fos and cyclin D1 varies in esophageal precancerous lesions and cancer tissues, suggesting an involvement of these genes in the development of esophageal carcinoma.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 35, "end": 44}], "disease": [{"text": "esophageal", "start": 55, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the mutant MLH1 3'-UTR can cause a severely reduced/defective MMR activity conferring leukemia relapse, likely by down-regulating MLH1 expression at the mRNA level.", "output": {"entities": {"gene": [{"text": "MMR", "start": 90, "end": 93}], "disease": [{"text": "leukemia relapse", "start": 114, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We now report a novel mutation in PRKAG2 causing Wolff-Parkinson-White syndrome and conduction system disease with onset in childhood and the absence of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 34, "end": 40}], "disease": [{"text": "cardiac hypertrophy", "start": 153, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to evaluate serum HCV-RNA, liver histology, and RIBA-II pattern in asymptomatic anti-HCV positive subjects with persistently normal or slightly (i. e.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 72, "end": 76}], "disease": [{"text": "asymptomatic", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In contrast, SMC (15) without euchromatin were found to have no influence on the carrier' s phenotype but were detected with a high incidence among infertile males.", "output": {"entities": {"gene": [{"text": "SMC", "start": 13, "end": 16}], "disease": [{"text": "infertile", "start": 148, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The insulin sensitivity (S (I)) for TRO and PLA increased from baseline to 24 months by 17% and 16%, respectively.", "output": {"entities": {"gene": [{"text": "TRO", "start": 36, "end": 39}], "disease": [{"text": "insulin sensitivity", "start": 4, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The 5-year disease-free survival was 52% for each group (P =. 91); the overall survival was 74% for BRCA2 carriers and 75% for sporadic cases (P =. 50).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 100, "end": 105}], "disease": [{"text": "sporadic", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "One patient had a 3beta-hydroxysteroid dehydrogenase deficiency, and one patient carried no CYP21 mutations.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 92, "end": 97}], "disease": [{"text": "3beta-hydroxysteroid dehydrogenase deficiency", "start": 18, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Nephroblastoma overexpressed gene (NOV) is highly expressed in the nervous system.", "output": {"entities": {"gene": [{"text": "NOV", "start": 35, "end": 38}], "disease": [{"text": "nervous system", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "FOXA1 modulates EAF2 regulation of AR transcriptional activity, cell proliferation, and migration in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "EAF2", "start": 16, "end": 20}], "disease": [{"text": "prostate cancer", "start": 101, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The tumors had a high degree of cellular atypia and differed from sporadic ALT/WDLS by strong nuclear immunoreactivity for p53 and absent mdm2 expression.", "output": {"entities": {"gene": [{"text": "p53", "start": 123, "end": 126}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In most of patients, TCIRG1, encoding a subunit of a proton pump essential for bone resorption, is mutated.", "output": {"entities": {"gene": [{"text": "TCIRG1", "start": 21, "end": 27}], "disease": [{"text": "bone resorption", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Cathepsin K is involved in development of psoriasis-like skin lesions through TLR-dependent Th17 activation.", "output": {"entities": {"gene": [{"text": "Cathepsin K", "start": 0, "end": 11}], "disease": [{"text": "psoriasis", "start": 42, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls.", "output": {"entities": {"gene": [{"text": "DIXDC1", "start": 12, "end": 18}], "disease": [{"text": "autism", "start": 41, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DIXDC1", "start": 12, "end": 18}, "tail": {"text": "autism", "start": 41, "end": 47}}]}}, "schema": []}
{"input": "CTL escape and increased viremia irrespective of HIV-specific CD4 + T-helper responses in two HIV-infected individuals.", "output": {"entities": {"gene": [{"text": "CD4", "start": 62, "end": 65}], "disease": [{"text": "viremia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "We report a novel missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene of affected members of a Japanese kindred segregating familial amyotrophic lateral sclerosis (FALS) through at least three successive generations.", "output": {"entities": {"gene": [{"text": "SOD", "start": 87, "end": 90}], "disease": [{"text": "FALS", "start": 191, "end": 195}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOD", "start": 87, "end": 90}, "tail": {"text": "FALS", "start": 191, "end": 195}}]}}, "schema": []}
{"input": "X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.", "output": {"entities": {"gene": [{"text": "MTM1", "start": 42, "end": 46}], "disease": [{"text": "X-linked myotubular myopathy", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTM1", "start": 42, "end": 46}, "tail": {"text": "X-linked myotubular myopathy", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "A patient experiencing impotence was found to have increased prolactin and low testosterone concentrations.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 61, "end": 70}], "disease": [{"text": "impotence", "start": 23, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin", "start": 61, "end": 70}, "tail": {"text": "impotence", "start": 23, "end": 32}}]}}, "schema": []}
{"input": "Induced PDI expression in HL1 cells conferred protection from hypoxia-induced apoptosis.", "output": {"entities": {"gene": [{"text": "PDI", "start": 8, "end": 11}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Unsupervised cluster data analysis of both hereditary and sporadic cases using the complete set of immunohistochemical markers demonstrated that most BRCA1-associated carcinomas grouped in a branch of ER-, HER2-negative tumors that expressed basal cell markers and/or p53 and had higher expression of activated caspase 3.", "output": {"entities": {"gene": [{"text": "p53", "start": 268, "end": 271}], "disease": [{"text": "sporadic", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Our data in the present study, combing our previous report, suggested that in the endogenous formaldehyde-induced pain in bone cancer pain rats, LSD1 in metastasized cancer cells contributed to the production of the endogenous formaldehyde.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 145, "end": 149}], "disease": [{"text": "cancer pain", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results show that secretion of CXCL5 by WAT resident macrophages represents a link between obesity, inflammation, and insulin resistance.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 53, "end": 58}], "disease": [{"text": "inflammation", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Restoration of tissue factor pathway inhibitor-2 in a human glioblastoma cell line triggers caspase-mediated pathway and apoptosis.", "output": {"entities": {"gene": [{"text": "tissue factor pathway inhibitor", "start": 15, "end": 46}], "disease": [{"text": "glioblastoma", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "This is the first PGD for primary torsion dystonia, providing an alternative for those at-risk couples who cannot accept prenatal diagnosis and termination of pregnancy as an option for avoiding early onset torsion dystonia.", "output": {"entities": {"gene": [{"text": "PGD", "start": 18, "end": 21}], "disease": [{"text": "primary torsion dystonia", "start": 26, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia.", "output": {"entities": {"gene": [{"text": "BTBD9", "start": 4, "end": 9}], "disease": [{"text": "schizophrenia", "start": 86, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BTBD9", "start": 4, "end": 9}, "tail": {"text": "schizophrenia", "start": 86, "end": 99}}]}}, "schema": []}
{"input": "LTBP4 exerts its effect in muscle disease by acting on plasma membrane stability and fibrosis, thereby linking instability of the sarcolemma directly to fibrosis.", "output": {"entities": {"gene": [{"text": "LTBP4", "start": 0, "end": 5}], "disease": [{"text": "fibrosis", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "To study the association of proliferating cell nuclear antigen (PCNA) with the biological characteristics and clinical behavior of hypopharyngeal carcinoma and with the prognosis of the malignancy.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 64, "end": 68}], "disease": [{"text": "hypopharyngeal carcinoma", "start": 131, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "This group of genes could segregate sporadic tumors into two subgroups, \" BRCA1-like \" and \" BRCA2-like, \" suggesting that BRCA1-related and BRCA2-related pathways are also involved in sporadic ovarian cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 93, "end": 98}], "disease": [{"text": "sporadic", "start": 36, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.", "output": {"entities": {"gene": [{"text": "MATP", "start": 83, "end": 87}], "disease": [{"text": "oculocutaneous albinism type IV", "start": 17, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MATP", "start": 83, "end": 87}, "tail": {"text": "oculocutaneous albinism type IV", "start": 17, "end": 48}}]}}, "schema": []}
{"input": "In osteochondroma of the jaws, CDK4 and E2F-1 showed an equal positivity of 12. 5% (1 of 8), whereas p27 was positive in 87. 5% (7 of 8).", "output": {"entities": {"gene": [{"text": "p27", "start": 101, "end": 104}], "disease": [{"text": "osteochondroma", "start": 3, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Antisense treatment significantly reduced (by approximately 50%) the volume of water drunk in response to i. c. v. injection of renin or subcutaneous isoproterenol, but did not reduce water intake elicited by the other dipsogenic stimuli. The i. c. v. administration of mismatch, scrambled or sense oligonucleotides did not inhibit water intake.", "output": {"entities": {"gene": [{"text": "renin", "start": 128, "end": 133}], "disease": [{"text": "drunk", "start": 85, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 128, "end": 133}, "tail": {"text": "drunk", "start": 85, "end": 90}}]}}, "schema": []}
{"input": "Effects of histamine H3 receptor agonists and antagonists on cognitive performance and scopolamine-induced amnesia.", "output": {"entities": {"gene": [{"text": "histamine H3 receptor", "start": 11, "end": 32}], "disease": [{"text": "amnesia", "start": 107, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "histamine H3 receptor", "start": 11, "end": 32}, "tail": {"text": "amnesia", "start": 107, "end": 114}}]}}, "schema": []}
{"input": "This work aimed to investigate the occurrence of Asn and Ser FSHR gene variants and its relationship with seminal anti-Müllerian hormone (AMH) among normozoospermic and infertile oligoasthenozoospermic (OAT) males.", "output": {"entities": {"gene": [{"text": "FSHR gene", "start": 61, "end": 70}], "disease": [{"text": "infertile", "start": 169, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Small-interfering (si) RNA directed against MUC5AC were used to assess the effects of MUC5AC on invasion and adhesion of pancreas cancer cells in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 44, "end": 50}], "disease": [{"text": "adhesion", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "A number of rare mutations linked to familial AD (FAD) on the Aβ precursor protein (APP), Presenilin-1 (PS1), Presenilin-2 (PS2), Adamalysin10, and other genetic risk factors for sporadic AD such as the ε4 allele of Apolipoprotein E (ApoE-ε4) foster the accumulation of Aβ and also induce the entire spectrum of pathology associated with the disease.", "output": {"entities": {"gene": [{"text": "FAD", "start": 50, "end": 53}], "disease": [{"text": "sporadic", "start": 179, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Since dysregulation of this pathway results in high, constitutive NFκB activation in various cancers and immune disorders, the development of specific drugs to target this pathway has become a focus for treating these diseases.", "output": {"entities": {"gene": [{"text": "NFκB", "start": 66, "end": 70}], "disease": [{"text": "immune disorders", "start": 105, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Despite extensive research on antithrombotic effect of statins, little is known about their effects on TF and PAI-1 expression in peripheral blood mononuclear cells in patients with primary nephrotic syndrome (PNS).", "output": {"entities": {"gene": [{"text": "TF", "start": 103, "end": 105}], "disease": [{"text": "nephrotic syndrome", "start": 190, "end": 208}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TF", "start": 103, "end": 105}, "tail": {"text": "nephrotic syndrome", "start": 190, "end": 208}}]}}, "schema": []}
{"input": "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.", "output": {"entities": {"gene": [{"text": "acid sphingomyelinase", "start": 53, "end": 74}], "disease": [{"text": "type B Niemann-Pick disease", "start": 109, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid sphingomyelinase", "start": 53, "end": 74}, "tail": {"text": "type B Niemann-Pick disease", "start": 109, "end": 136}}]}}, "schema": []}
{"input": "These results provide a complete description of changes in mRNA levels of neurotrophins and their receptors in the forebrain after SE and supply additional data supporting the view that neurotrophin gene expression is related to abnormal neuronal activity.", "output": {"entities": {"gene": [{"text": "neurotrophin", "start": 74, "end": 86}], "disease": [{"text": "SE", "start": 131, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neurotrophin", "start": 74, "end": 86}, "tail": {"text": "SE", "start": 131, "end": 133}}]}}, "schema": []}
{"input": "The IGF-I 192-base pair allele was less frequent in children with accelerated weight gain and was shown to reduce the risk for accelerated weight gain in a logistic regression model.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 4, "end": 9}], "disease": [{"text": "weight gain", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Guamanian amyotrophic lateral sclerosis (ALS-G) and parkinsonism dementia (PD-G) have been epidemiologically linked to an environment severely deficient in calcium (Ca2 +) and magnesium (Mg2 +).", "output": {"entities": {"gene": [{"text": "Mg2", "start": 187, "end": 190}], "disease": [{"text": "parkinsonism", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Cells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS-associated protein TDP-43.", "output": {"entities": {"gene": [{"text": "PFN1", "start": 17, "end": 21}], "disease": [{"text": "ALS", "start": 105, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PFN1", "start": 17, "end": 21}, "tail": {"text": "ALS", "start": 105, "end": 108}}]}}, "schema": []}
{"input": "TGF-beta induction of VEGF secretion by RPE and choroid cells may play a significant role in choroidal neovascularization (CNV) in AMD.", "output": {"entities": {"gene": [{"text": "RPE", "start": 40, "end": 43}], "disease": [{"text": "choroidal neovascularization", "start": 93, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "A study has shown that MYD88 (L265P) is a recurring somatic mutation in Waldenström' s macroglobulinemia (WM).", "output": {"entities": {"gene": [{"text": "MYD88", "start": 23, "end": 28}], "disease": [{"text": "somatic mutation", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In TRX-1-TG mice, pancreatic atrophy was ameliorated, and histologically detectable inflammatory cell infiltration, glandular atrophy, and pseudotubular complex formation were suppressed.", "output": {"entities": {"gene": [{"text": "TRX", "start": 3, "end": 6}], "disease": [{"text": "atrophy", "start": 29, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the PC cell lines 22Rv1 and VCaP, which express low levels of miR-193b and high levels of CCND1, showed significant growth retardation when treated with a CDK4/6 inhibitor.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 168, "end": 172}], "disease": [{"text": "growth retardation", "start": 129, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Acute knockdown of MOR-1 gene expression by administration of antisense oligodeoxynucleotides to hippocampal slices in vitro or injection of the MOR antagonist naloxone to rats in vivo affords protection against ischemia-induced death of CA1 pyramidal neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 238, "end": 241}], "disease": [{"text": "ischemia", "start": 212, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD).", "output": {"entities": {"gene": [{"text": "transmembrane protein 2", "start": 50, "end": 73}], "disease": [{"text": "convulsions", "start": 198, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, hypoxia-induced down-regulation of miR-21 and up-regulation of FasL and PTEN were reversed by activated AKT and reproduced by a dominant negative mutant, wortmannin, or PTEN.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 48, "end": 54}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Overall, LPL is a fascinating enzyme that contributes in a pronounced way to normal lipoprotein metabolism, tissue-specific substrate delivery and utilization, and the many aspects of obesity and other metabolic disorders that relate to energy balance, insulin action, and body weight regulation.", "output": {"entities": {"gene": [{"text": "LPL", "start": 9, "end": 12}], "disease": [{"text": "body weight", "start": 273, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "In summary, GH plus IGF-I infusions decrease the relative weight of inguinal fat in Zucker rats as in obese GH-deficient dwarf rats; however, this effect is of more modest magnitude despite the use of a 2-to 3-fold higher dose and is limited to the inguinal site.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 20, "end": 25}], "disease": [{"text": "weight", "start": 58, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 17, "end": 22}], "disease": [{"text": "BPES", "start": 105, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXL2", "start": 17, "end": 22}, "tail": {"text": "BPES", "start": 105, "end": 109}}]}}, "schema": []}
{"input": "The glutamic acid derivative thalidomide is a transcriptional inhibitor of TNF-alpha but is also known to affect human blood vessels, which may underlie its teratogenicity.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 75, "end": 84}], "disease": [{"text": "teratogenicity", "start": 157, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 66, "end": 71}], "disease": [{"text": "translocation", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "It showed significant suppressive effect on ROS generation in response to TNF-alpha stimulation and it blocked nuclear factor-kappa B (NF-kappaB) p65 translocation into the nucleus and phosphorylation of inhibitory factor kappaBalpha (IkappaBalpha).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 74, "end": 83}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we investigated whether membrane staining for TRAIL-receptors as well as the presence of KRAS mutations or of microsatellite instability (MSI) had an effect on survival and thus a prognostic effect.", "output": {"entities": {"gene": [{"text": "TRAIL", "start": 56, "end": 61}], "disease": [{"text": "microsatellite instability", "start": 120, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "MiR-30a-5p is induced by Wnt/β-catenin pathway and promotes glioma cell invasion by repressing NCAM.", "output": {"entities": {"gene": [{"text": "NCAM", "start": 95, "end": 99}], "disease": [{"text": "glioma", "start": 60, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Serum MIF levels were low in patients with a normal mucosa (576 (82) pg/ml) but higher in patients with gastritis (2100 (349) pg/ml), intestinal metaplasia (4498 (253) pg/ml), and gastric cancer (9737 (1249) pg/ml) (p < 0. 001, ANOVA).", "output": {"entities": {"gene": [{"text": "MIF", "start": 6, "end": 9}], "disease": [{"text": "gastric cancer", "start": 180, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "These observations indicate that hippocampal pathology in the FAD cases is qualitatively as well as quantitatively different from that in sporadic cases.", "output": {"entities": {"gene": [{"text": "FAD", "start": 62, "end": 65}], "disease": [{"text": "sporadic", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Saline and HNE were applied via the trachea using a microsprayer.", "output": {"entities": {"gene": [{"text": "HNE", "start": 11, "end": 14}], "disease": [{"text": "trachea", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Some of the molecular mechanisms of HGPS might be relevant to the process of normal aging, since progerin is detected in cells from normal elderly humans.", "output": {"entities": {"gene": [{"text": "progerin", "start": 97, "end": 105}], "disease": [{"text": "aging", "start": 84, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Studies of smoking and risk of non-Hodgkin lymphoma (NHL) have yielded inconsistent results, possibly due to subtype heterogeneity and/or genetic variation impacting the metabolism of tobacco-derived carcinogens, including substrates of the N-acetyltransferase enzymes NAT1 and NAT2.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 278, "end": 282}], "disease": [{"text": "smoking", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Serum sTNFR1 and sTNFR2 levels were significantly higher in women with endometriosis than in those without endometriosis, whereas no difference in serum TNT-alpha level was noted.", "output": {"entities": {"gene": [{"text": "TNT", "start": 153, "end": 156}], "disease": [{"text": "endometriosis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that the changes in the expression levels of GDNF, ARTN, and NT-3 mRNAs might be state-dependent and associated with the pathophysiology of major depression.", "output": {"entities": {"gene": [{"text": "ARTN", "start": 71, "end": 75}], "disease": [{"text": "major depression", "start": 160, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARTN", "start": 71, "end": 75}, "tail": {"text": "major depression", "start": 160, "end": 176}}]}}, "schema": []}
{"input": "Phospholipase D1 has a pivotal role in interleukin-1β-driven chronic autoimmune arthritis through regulation of NF-κB, hypoxia-inducible factor 1α, and FoxO3a.", "output": {"entities": {"gene": [{"text": "FoxO3a", "start": 152, "end": 158}], "disease": [{"text": "autoimmune arthritis", "start": 69, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that loss of tolerance against Dsg3 in both B and T cells is important for the development of autoimmune state of PV.", "output": {"entities": {"gene": [{"text": "Dsg3", "start": 53, "end": 57}], "disease": [{"text": "autoimmune state", "start": 116, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.", "output": {"entities": {"gene": [{"text": "NAV1", "start": 212, "end": 216}], "disease": [{"text": "tumorigenesis", "start": 401, "end": 414}]}, "relations": {}}, "schema": []}
{"input": "Here, we used MCT4 immuno-staining of human breast cancer tissue microarrays (TMAs; & gt; 180 triple-negative patients) to directly assess the prognostic value of the \" Reverse Warburg Effect. \"", "output": {"entities": {"gene": [{"text": "MCT4", "start": 14, "end": 18}], "disease": [{"text": "breast cancer", "start": 44, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCT4", "start": 14, "end": 18}, "tail": {"text": "breast cancer", "start": 44, "end": 57}}]}}, "schema": []}
{"input": "The copy number intensities examined using both microarrays and quantitative real-time polymerase chain reaction for the GAD67 gene were significantly decreased in sector CA3/2 of patients with schizophrenia and patients with bipolar disorder.", "output": {"entities": {"gene": [{"text": "CA3", "start": 171, "end": 174}], "disease": [{"text": "schizophrenia", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "This unexpected result suggests a model that could explain the dual action of VPA in stabilizing mood: we propose that euthymic mood is dependent on stable PIns signaling and that VPA may limit mood swings to mania by decreasing PIns signaling, and that it may limit mood swings to depression by inhibiting PO and thus increasing PIns signaling.", "output": {"entities": {"gene": [{"text": "PO", "start": 307, "end": 309}], "disease": [{"text": "mania", "start": 209, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PO", "start": 307, "end": 309}, "tail": {"text": "mania", "start": 209, "end": 214}}]}}, "schema": []}
{"input": "Finally, we show that depletion of SGEF significantly inhibits epidermal growth factor-induced EGFR signaling cascade and cell migration in the prostate cancer cells.", "output": {"entities": {"gene": [{"text": "SGEF", "start": 35, "end": 39}], "disease": [{"text": "prostate cancer", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Myeloid differentiation factor 88 (MYD88) L265P somatic mutation is highly prevalent in Waldenström macroglobulinemia (WM) and supports malignant growth through nuclear factor κB (NF-κB).", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 180, "end": 185}], "disease": [{"text": "macroglobulinemia", "start": 100, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Gene expression of IGF1, IGF1R, and IGFBP3 in epiretinal membranes of patients with proliferative diabetic retinopathy: preliminary study.", "output": {"entities": {"gene": [{"text": "IGF1R", "start": 25, "end": 30}], "disease": [{"text": "proliferative diabetic retinopathy", "start": 84, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the role of BNIP3 in prostate cancer.", "output": {"entities": {"gene": [{"text": "BNIP3", "start": 36, "end": 41}], "disease": [{"text": "prostate cancer", "start": 45, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BNIP3", "start": 36, "end": 41}, "tail": {"text": "prostate cancer", "start": 45, "end": 60}}]}}, "schema": []}
{"input": "High miR-21 expression was associated with features of aggressive disease, including high tumor grade, negative hormone receptor status, and ductal carcinoma.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 112, "end": 128}], "disease": [{"text": "ductal carcinoma", "start": 141, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Bcl-xL is required for the development of functional regulatory CD4 cells in lupus-afflicted mice following treatment with a tolerogenic peptide.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 0, "end": 6}], "disease": [{"text": "lupus", "start": 77, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Klkb1 (-/-) mice have delayed carotid artery occlusion times on the rose bengal and ferric chloride thrombosis models.", "output": {"entities": {"gene": [{"text": "Klkb1", "start": 0, "end": 5}], "disease": [{"text": "thrombosis", "start": 100, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Klkb1", "start": 0, "end": 5}, "tail": {"text": "thrombosis", "start": 100, "end": 110}}]}}, "schema": []}
{"input": "Acid-ethanol extraction allowed dissociation of the high molecular weight complex; whereupon, fully immunoreactive IGF-I comigrated on acid gel exclusion chromatography with authentic human serum-derived IGF-I.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 115, "end": 120}], "disease": [{"text": "dissociation", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "provides new insight into the role of IL-11 and its glycoprotein 130 (gp130) receptor in inflammation-associated gastric epithelial cell oncogenic transformation, which they show is mediated by and dependent on increased activation of Stat3 and, to a lesser extent, Stat1 (see the related article beginning on page 1727).", "output": {"entities": {"gene": [{"text": "Stat1", "start": 266, "end": 271}], "disease": [{"text": "inflammation", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate that mutations in FA2H are associated with SPG35, and that abnormal hydroxylation of myelin galactocerebroside lipid components can lead to a severe progressive phenotype, with a clinical presentation of complicated HSP and radiological features of leukodystrophy. (c) 2010 Wiley-Liss, Inc.", "output": {"entities": {"gene": [{"text": "FA2H", "start": 44, "end": 48}], "disease": [{"text": "SPG35", "start": 69, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FA2H", "start": 44, "end": 48}, "tail": {"text": "SPG35", "start": 69, "end": 74}}]}}, "schema": []}
{"input": "Finally, intraventricular administration of the caspase-2-like inhibitor (VDVAD-FMK) 30 min before induction of ischemia decreased the number of CA1 neurons staining positively for DNA damage (Klenow-labeling assay) and increased the number of healthy-appearing CA1 neurons (cresyl violet) compared with vehicle-treated controls.", "output": {"entities": {"gene": [{"text": "CA1", "start": 145, "end": 148}], "disease": [{"text": "ischemia", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We assessed expression of the Th1-like cytokine, interferon-gamma, and the Th2-like cytokine, interleukin-4, in lesional atopic skin.", "output": {"entities": {"gene": [{"text": "Th1-like", "start": 30, "end": 38}], "disease": [{"text": "atopic", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "However, it appears that inactivation of several independent functions of BRCA2 including regulation of gene transcription, chromatin remodeling, cell growth, DNA damage repair, and chromosomal instability may provide a pathophysiological basis for the association of BRCA2 mutations and pancreatic cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 74, "end": 79}], "disease": [{"text": "chromosomal instability", "start": 182, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "We investigated a series of 21 sporadic paraffin-embedded hepatoblastoma cases for mutations in the p53 (exons 5-8) and beta-catenin (exon 3) genes, loss of heterozygosity at APC, microsatellite instability and immunohistochemical expression of beta-catenin and of the two main mismatch repair proteins, MLH1 and MSH2.", "output": {"entities": {"gene": [{"text": "p53", "start": 100, "end": 103}], "disease": [{"text": "sporadic", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Furthermore we studied effects of histamine H1 and H2 receptor antagonists on orexin A-produced antinociception in C57BL/6 mice. The antinociceptive effects of i. c. v. orexin A were greater in histamine H1 receptor or H2 receptor knockout mice than in the wild-type mice in all four assays of pain.", "output": {"entities": {"gene": [{"text": "orexin", "start": 78, "end": 84}], "disease": [{"text": "pain", "start": 294, "end": 298}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "orexin", "start": 78, "end": 84}, "tail": {"text": "pain", "start": 294, "end": 298}}]}}, "schema": []}
{"input": "The GSTT1-null polymorphism was found to be a protective factor for UADT cancer [(odds ratio (OR) = 0. 5, 95% confidence interval (CI) = 0. 27-0. 93)], although this association was not confirmed when adjusted for gender, age, smoking, alcoholism, and self-reported skin color in the multivariate logistic regression model (OR = 0. 61, 95% CI = 0. 29-1. 28).", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 4, "end": 9}], "disease": [{"text": "skin color", "start": 266, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of poly (ADP-ribose) polymerase-1 (Parp-1), the major protein responsible for poly (ADP-ribosy) lation in response to DNA damage, has emerged as a promising treatment for several tumour types.", "output": {"entities": {"gene": [{"text": "ADP", "start": 24, "end": 27}], "disease": [{"text": "tumour", "start": 194, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 91, "end": 96}], "disease": [{"text": "Crouzon syndrome", "start": 0, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 91, "end": 96}, "tail": {"text": "Crouzon syndrome", "start": 0, "end": 16}}]}}, "schema": []}
{"input": "These data suggest that adenovirus-mediated inhibition of HIF-1α inhibits the invasion, tube formation, and cell growth in HUVECs and HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 134, "end": 137}], "disease": [{"text": "adenovirus", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Altogether, we here show that de novo protein-truncating KIDINS220 variants cause a new syndrome, SINO.", "output": {"entities": {"gene": [{"text": "KIDINS220", "start": 57, "end": 66}], "disease": [{"text": "SINO", "start": 98, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIDINS220", "start": 57, "end": 66}, "tail": {"text": "SINO", "start": 98, "end": 102}}]}}, "schema": []}
{"input": "Unexpectedly, the lipogenic enzyme fatty acid synthase (FAS) was increased in the skeletal muscle of mice with diet-induced obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "fatty acid synthase", "start": 35, "end": 54}], "disease": [{"text": "insulin resistance", "start": 136, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Evidence shows that painful HIV sensory neuropathy is influenced by neuroinflammatory events that include the proinflammatory molecules, MAP Kinase, tumor necrosis factor-α (TNFα), stromal cell-derived factor 1-α (SDF1α), and C-X-C chemokine receptor type 4 (CXCR4).", "output": {"entities": {"gene": [{"text": "stromal cell-derived factor 1", "start": 181, "end": 210}], "disease": [{"text": "sensory neuropathy", "start": 32, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "This case represents a further example of confined placental mosaicism (CPM) for trisomy 2 associated with oligohydramnios, IUGR and poor pregnancy outcome.", "output": {"entities": {"gene": [{"text": "CPM", "start": 72, "end": 75}], "disease": [{"text": "oligohydramnios", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "An EWS exon 8 sense primer and an antisense ATF1 primer were employed for detection of the CCS-ST tumor-defining EWS-ATF1 translocation, using reverse transcriptase-polymerase chain reaction techniques (RT-PCR), and the fusion gene breakpoint underwent DNA sequencing.", "output": {"entities": {"gene": [{"text": "EWS", "start": 3, "end": 6}], "disease": [{"text": "translocation", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "By immunohistochemistry, we detected that 34% of MC in human nasal polyps expressed DP2.", "output": {"entities": {"gene": [{"text": "DP2", "start": 84, "end": 87}], "disease": [{"text": "nasal polyps", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study is to define if an altered expression of HDAC9, TWIST1 and FERD3L genes could be involved in plaque vulnerability.", "output": {"entities": {"gene": [{"text": "FERD3L", "start": 80, "end": 86}], "disease": [{"text": "plaque", "start": 114, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "A somatic mutation in GNAQ (c. 548G > A; p. R183Q), encoding Gαq, has been found in syndromic and sporadic capillary malformation tissue.", "output": {"entities": {"gene": [{"text": "GNAQ", "start": 22, "end": 26}], "disease": [{"text": "somatic mutation", "start": 2, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to verify whether the glutathione S-transferase (GST) genotypes affect mild hepatotoxicity in valproic acid (VPA)-treated patients.", "output": {"entities": {"gene": [{"text": "GST", "start": 73, "end": 76}], "disease": [{"text": "mild", "start": 95, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "These data and the well-documented role of mast cells in tumorigenesis suggest that mast cells may be involved in the pathophysiology of APA.", "output": {"entities": {"gene": [{"text": "APA", "start": 137, "end": 140}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Apc (min/+) mice with heterozygous knockout of the gene for reduced folate carrier 1 (Rfc1 (+/-)) developed significantly fewer adenomas compared to Rfc1 (+/+) Apc (min/+) mice [30. 3 +/-4. 6 vs. 60. 4 +/-9. 4 on a control diet (CD) and 42. 6 +/-4. 4 vs. 55. 8 +/-7. 6 on a folate-deficient diet, respectively].", "output": {"entities": {"gene": [{"text": "reduced folate carrier 1", "start": 60, "end": 84}], "disease": [{"text": "adenomas", "start": 128, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reduced folate carrier 1", "start": 60, "end": 84}, "tail": {"text": "adenomas", "start": 128, "end": 136}}]}}, "schema": []}
{"input": "This study provided direct in vivo evidence that GALC transduction could prevent or correct aberrant morphology of oligodendrocytes in GLD which may be closely related to the dysfunction and/or degeneration of oligodendrocytes and the demyelination in this disease.", "output": {"entities": {"gene": [{"text": "GALC", "start": 49, "end": 53}], "disease": [{"text": "demyelination", "start": 235, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Reductions in RASAL1 expression were detected more frequently in advanced lesions than in small adenomas, suggesting that RASAL1 functions in the progression of benign colonic neoplasms.", "output": {"entities": {"gene": [{"text": "RASAL1", "start": 14, "end": 20}], "disease": [{"text": "colonic neoplasms", "start": 168, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Both miR-219 and Dazap1 are putative markers of schizophrenia and bipolar affective disorder in humans.", "output": {"entities": {"gene": [{"text": "Dazap1", "start": 17, "end": 23}], "disease": [{"text": "bipolar affective disorder", "start": 66, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dazap1", "start": 17, "end": 23}, "tail": {"text": "bipolar affective disorder", "start": 66, "end": 92}}]}}, "schema": []}
{"input": "Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.", "output": {"entities": {"gene": [{"text": "VTI1A", "start": 72, "end": 77}], "disease": [{"text": "adenocarcinomas", "start": 33, "end": 48}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VTI1A", "start": 72, "end": 77}, "tail": {"text": "adenocarcinomas", "start": 33, "end": 48}}]}}, "schema": []}
{"input": "To identify the role of apoptosis in brain tumor cell death, we investigated macromolecular (RNA and protein) synthesis and activity in the central to peripheral region of benign [desmoplastic infantile ganglioglioma (DIG) and transitional meningioma (TMG)] and malignant [ependymoma (END), anaplastic astrocytoma (APA), and glioblastoma multiforme (GBM)] brain tumors derived from five patients who had not received previously radiotherapy or chemotherapy.", "output": {"entities": {"gene": [{"text": "APA", "start": 315, "end": 318}], "disease": [{"text": "ependymoma", "start": 273, "end": 283}]}, "relations": {}}, "schema": []}
{"input": "No significant correlation was observed between the two current prognostic markers, CD4 + and plasma viremia, while a moderate or high inverse correlation was found between CD4 + and total HIV DNA, with strong values for unintegrated HIV DNA.", "output": {"entities": {"gene": [{"text": "CD4", "start": 84, "end": 87}], "disease": [{"text": "viremia", "start": 101, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "There was a & gt; or = 50% decrease in beta-catenin (P = 0. 001) and diminishing Bcl-2 (P = 0. 019) in small intestinal tumors harvested between 2 and 4 days of treatment when compared with untreated controls.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 81, "end": 86}], "disease": [{"text": "intestinal tumors", "start": 109, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 81, "end": 86}, "tail": {"text": "intestinal tumors", "start": 109, "end": 126}}]}}, "schema": []}
{"input": "Detailed analysis of the RET and L1CAM genes, and molecular characterization of MYO18A and TIAF1, the genes involved in the balanced translocation, allowed us to identify, besides the L1 mutation c. 2265delC, different additional factors related to RET-dependent and-independent pathways which may have contributed to the genesis of enteric phenotype in the present patient.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 33, "end": 38}], "disease": [{"text": "translocation", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant progressive neurodegenerative disorder with intellectual deterioration and various motor deficits including ataxia, choreoathetosis, and myoclonus, caused by an abnormal expansion of CAG repeats in the DRPLA gene.", "output": {"entities": {"gene": [{"text": "DRPLA gene", "start": 272, "end": 282}], "disease": [{"text": "progressive neurodegenerative disorder", "start": 70, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The uncontrolled generation of IFN-gamma-producing CD4 (+) T cells (Th1 type) has been shown to play a causal role in the development of enterocolitis affecting these mutants.", "output": {"entities": {"gene": [{"text": "IFN", "start": 31, "end": 34}], "disease": [{"text": "enterocolitis", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The CYP2C9 genotype was not a significant or clinically relevant risk factor in the development of serious NSAID-related ulcers in this group of subjects.", "output": {"entities": {"gene": [{"text": "CYP2C9", "start": 4, "end": 10}], "disease": [{"text": "ulcers", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "By using a rat model of bone cancer pain based on intratibial injection of MRMT-1 tumour cells, we documented a prominent decrease in expression of KCNQ2 and KCNQ3 proteins and a reduction of M-current density in small-sized dorsal root ganglia (DRG) neurons, which were associated with enhanced excitability of these DRG neurons and the hyperalgesic behaviours in bone cancer rats.", "output": {"entities": {"gene": [{"text": "DRG", "start": 246, "end": 249}], "disease": [{"text": "bone cancer", "start": 24, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Based on the tumour samples, expression of PIK3C2B was associated with tumour metastasis and in vitro assay suggested that it mediated cell migration.", "output": {"entities": {"gene": [{"text": "PIK3C2B", "start": 43, "end": 50}], "disease": [{"text": "tumour metastasis", "start": 71, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3C2B", "start": 43, "end": 50}, "tail": {"text": "tumour metastasis", "start": 71, "end": 88}}]}}, "schema": []}
{"input": "While inheritance of mutated alleles of highly penetrant tumor suppressor genes such as retinoblastoma or p53 predisposes individuals to a greatly increased risk of developing cancer, epidemiological data indicate that the majority of sporadic tumors in humans result from interactions of environmental and host genetic factors.", "output": {"entities": {"gene": [{"text": "p53", "start": 106, "end": 109}], "disease": [{"text": "sporadic", "start": 235, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified.", "output": {"entities": {"gene": [{"text": "UROD", "start": 55, "end": 59}], "disease": [{"text": "PCT", "start": 77, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UROD", "start": 55, "end": 59}, "tail": {"text": "PCT", "start": 77, "end": 80}}]}}, "schema": []}
{"input": "A further study revealed hypoxic trophoblast HMGB1-induced cytotoxicity and leukostasis of HUVEC as well as higher expression of cell adhesion molecules (VCAM-1 and ICAM-1) could be reversed by pretreatment with STS.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 45, "end": 50}], "disease": [{"text": "leukostasis", "start": 76, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGB1", "start": 45, "end": 50}, "tail": {"text": "leukostasis", "start": 76, "end": 87}}]}}, "schema": []}
{"input": "We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC.", "output": {"entities": {"gene": [{"text": "PLEC1", "start": 79, "end": 84}], "disease": [{"text": "ACC", "start": 149, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLEC1", "start": 79, "end": 84}, "tail": {"text": "ACC", "start": 149, "end": 152}}]}}, "schema": []}
{"input": "In subjects with a positive family history of hypertension, hyperinsulinaemia did not influence renal plasma flow (RPF) or glomerular filtration rate (GFR) but urinary sodium excretion decreased by 50%.", "output": {"entities": {"gene": [{"text": "GFR", "start": 151, "end": 154}], "disease": [{"text": "hyperinsulinaemia", "start": 60, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Mutation analyses of SLC7A9 and SLC3A1 genes were performed on 41 cystinuria patients.", "output": {"entities": {"gene": [{"text": "SLC3A1", "start": 32, "end": 38}], "disease": [{"text": "cystinuria", "start": 66, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC3A1", "start": 32, "end": 38}, "tail": {"text": "cystinuria", "start": 66, "end": 76}}]}}, "schema": []}
{"input": "In the present study, we investigated the therapeutic effects of uPA gene-modified BDLSC transplantation on carbon tetrachloride (CCl4)-induced liver fibrosis in rats.", "output": {"entities": {"gene": [{"text": "uPA", "start": 65, "end": 68}], "disease": [{"text": "liver fibrosis", "start": 144, "end": 158}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "uPA", "start": 65, "end": 68}, "tail": {"text": "liver fibrosis", "start": 144, "end": 158}}]}}, "schema": []}
{"input": "In order to ascertain autocrine growth factors in esophageal carcinomas, we analysed expression of mRNAs and proteins for epidermal growth factor (EGF), transforming growth factor-alpha (TGF-alpha) and epidermal growth factor receptor (EGFR) in 6 esophageal carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "EGF", "start": 147, "end": 150}], "disease": [{"text": "esophageal", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "However, hyperlipidaemia can also cause increased SLC activity in some individuals and it is difficult to distinguish this effect from the effect of hypertension.", "output": {"entities": {"gene": [{"text": "SLC", "start": 50, "end": 53}], "disease": [{"text": "hyperlipidaemia", "start": 9, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Therefore, blood leukocytes may harbour the GNAQ mutation, depending on the time when the somatic mutation is acquired.", "output": {"entities": {"gene": [{"text": "GNAQ", "start": 44, "end": 48}], "disease": [{"text": "somatic mutation", "start": 90, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The survival data and body weight of all mice were recorded, and expression levels of PTEN, PI3K and FAK in normal tissue and cancer tissue of the livers were evaluated with immunohistochemical method.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 92, "end": 96}], "disease": [{"text": "body weight", "start": 22, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Most COL2A1 mutations occur in the triple helical region of alpha 1 (II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 5, "end": 11}], "disease": [{"text": "KND", "start": 254, "end": 257}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 5, "end": 11}, "tail": {"text": "KND", "start": 254, "end": 257}}]}}, "schema": []}
{"input": "To test whether the triterpenoid 2-cyano-3, 12-dioxooleana-1, 9 (11)-dien-28-oic acid methyl ester (CDDO-Me) and the rexinoid LG100268 (268) prevent the formation of estrogen receptor (ER)-negative mammary tumors or either arrest the growth or cause regression of established tumors in MMTV-neu mice.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 166, "end": 183}], "disease": [{"text": "regression", "start": 250, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated with a human disease (ie, the Griscelli syndrome type 2).", "output": {"entities": {"gene": [{"text": "Rab27a", "start": 0, "end": 6}], "disease": [{"text": "Griscelli syndrome type 2", "start": 143, "end": 168}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Rab27a", "start": 0, "end": 6}, "tail": {"text": "Griscelli syndrome type 2", "start": 143, "end": 168}}]}}, "schema": []}
{"input": "Since cleft lip/palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the analysis as well.", "output": {"entities": {"gene": [{"text": "TGFA", "start": 80, "end": 84}], "disease": [{"text": "tooth agenesis", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Process validation and clinical evaluation of a protocol to generate gene-modified T lymphocytes for imunogene therapy for metastatic renal cell carcinoma: GMP-controlled transduction and expansion of patient' s T lymphocytes using a carboxy anhydrase IX-specific scFv transgene.", "output": {"entities": {"gene": [{"text": "GMP", "start": 156, "end": 159}], "disease": [{"text": "metastatic renal cell carcinoma", "start": 123, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Certain hub genes were identified in the constructed differential co‑expression network, including matrix metalloproteinase 1 (MMP1), smoothened (SMO), ewing sarcoma breakpoint region 1 (EWSR1) and fasciculation and elongation protein ζ‑1 (FEZ1).", "output": {"entities": {"gene": [{"text": "MMP1", "start": 127, "end": 131}], "disease": [{"text": "fasciculation", "start": 198, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "We conclude that PDE11A has a role in the pathophysiology of MDD.", "output": {"entities": {"gene": [{"text": "PDE11A", "start": 17, "end": 23}], "disease": [{"text": "MDD", "start": 61, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE11A", "start": 17, "end": 23}, "tail": {"text": "MDD", "start": 61, "end": 64}}]}}, "schema": []}
{"input": "Novel oncogenes identified within the 11q13 amplicon including FGF19 and SHANK2 may play important roles in ESCC tumorigenesis.", "output": {"entities": {"gene": [{"text": "FGF19", "start": 63, "end": 68}], "disease": [{"text": "tumorigenesis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "To some extent (the true magnitude of which is at present unknown) partial ACT deficiency is caused by a rare trait, heterozygous ACT deficiency, which in parallel with heterozygous alpha 1-antitrypsin deficiency (PiMZ) also seems to be associated with chronic cryptogenic liver disease.", "output": {"entities": {"gene": [{"text": "ACT", "start": 75, "end": 78}], "disease": [{"text": "alpha 1-antitrypsin deficiency", "start": 182, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The study shows that d-myo-inositol 1, 4, 5-tris-phosphate-induced cardiac hypertrophy is mediated by GATA4 but independent from the calcineurin pathway.", "output": {"entities": {"gene": [{"text": "GATA4", "start": 102, "end": 107}], "disease": [{"text": "cardiac hypertrophy", "start": 67, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GATA4", "start": 102, "end": 107}, "tail": {"text": "cardiac hypertrophy", "start": 67, "end": 86}}]}}, "schema": []}
{"input": "Here, we describe the FISH technique for detection of PAX8-PPARγ translocation in follicular thyroid neoplasms, and the optimal protocol for the detection of this fusion gene using in archival formalin-fixed paraffin-embedded (FFPE) thyroid tissue sections.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 59, "end": 64}], "disease": [{"text": "translocation", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Dependent on the MFM causing mutation, different sets of proteins were revealed as genuine (accumulated) plaque components in independent technical replicates: (i) αB-crystallin, desmin, filamin A/C, myotilin, PRAF3, RTN2, SQSTM, XIRP1, and XIRP2 (patient with defined MFM mutation distinct from FHL1) or (ii) desmin, FHL1, filamin A/C, KBTBD10, NRAP, SQSTM, RL40, XIRP1, and XIRP2 (patient with FHL1 mutation).", "output": {"entities": {"gene": [{"text": "RTN2", "start": 217, "end": 221}], "disease": [{"text": "plaque", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The hormone receptor GUCY2C suppresses intestinal tumor formation by inhibiting AKT signaling.", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 4, "end": 20}], "disease": [{"text": "intestinal tumor", "start": 39, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Whereas higher levels of AHSG blunted TGF-β influenced SMAD and ERK signaling, it did not clearly affect proliferation, suggesting that AHSG influences on adhesion, proliferation, invasion and migration are primarily due to its role in adhesion and cell spreading.", "output": {"entities": {"gene": [{"text": "AHSG", "start": 25, "end": 29}], "disease": [{"text": "adhesion", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Mendelian randomization analyses indicate causal roles in PCOS aetiology for higher BMI (P = 2. 5 × 10 (-9)), higher insulin resistance (P = 6 × 10 (-4)) and lower serum sex hormone binding globulin concentrations (P = 5 × 10 (-4)).", "output": {"entities": {"gene": [{"text": "sex hormone binding globulin", "start": 170, "end": 198}], "disease": [{"text": "insulin resistance", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Here we report that gastrin, a major gastrointestinal hormone, upregulates the expression of AE2 mRNA and protein in a cholecystokinin B receptor dependent manner in gastric cancer cells.", "output": {"entities": {"gene": [{"text": "AE2", "start": 93, "end": 96}], "disease": [{"text": "gastric cancer", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND).", "output": {"entities": {"gene": [{"text": "FIND", "start": 141, "end": 145}], "disease": [{"text": "albuminuria", "start": 47, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The gene for Nijmegen chromosomal breakage syndrome (NBS1) plays a role in a variety of processes protecting chromosomal stability.", "output": {"entities": {"gene": [{"text": "NBS1", "start": 53, "end": 57}], "disease": [{"text": "chromosomal breakage", "start": 22, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Deletion of oncogenic K-Ras failed to reduce the activation state of B-Raf or ERK1/2, despite the requirement of oncogenic K-Ras for tumorigenesis.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 78, "end": 82}], "disease": [{"text": "tumorigenesis", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In addition, 11 ERM samples from PDR patients aged 47 +/-18 years with 13 +/-4 years of diabetes were processed for immunohistochemical analysis.", "output": {"entities": {"gene": [{"text": "ERM", "start": 16, "end": 19}], "disease": [{"text": "diabetes", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The laboratory data evaluated included thrombogenic factors (fibrinogen, protein C, protein S, and antithrombin III), atherogenic factors (glucose and lipid profiles, lipoprotein (a), and apolipoproteins AI and B), and lymphotoxin-alfa mutations.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 99, "end": 115}], "disease": [{"text": "fibrinogen", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "When some gamma-endorphin derivatives (DT gamma E, DE gamma E) were injected intravenously (i. v.) for 4 days (or hydrocortisone once), they prevented the EEG ictal seizures induced in the hippocampus of rabbits by CRF injected i. c. v.", "output": {"entities": {"gene": [{"text": "CRF", "start": 215, "end": 218}], "disease": [{"text": "seizures", "start": 165, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF", "start": 215, "end": 218}, "tail": {"text": "seizures", "start": 165, "end": 173}}]}}, "schema": []}
{"input": "A full-colour painting protocol of all human chromosomes by FISH was combined with a telomeric and centromeric labelling using PNA probes to characterize the rejoining pattern and telomere status of radiation-induced chromosome breaks in ataxia-telangiectasia (A-T) and normal lymphoblastoid cell lines.", "output": {"entities": {"gene": [{"text": "FISH", "start": 60, "end": 64}], "disease": [{"text": "chromosome breaks", "start": 217, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Our results imply that GRK6 may not play a role in the pathophysiology of schizophrenia among Han Chinese.", "output": {"entities": {"gene": [{"text": "GRK6", "start": 23, "end": 27}], "disease": [{"text": "schizophrenia", "start": 74, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRK6", "start": 23, "end": 27}, "tail": {"text": "schizophrenia", "start": 74, "end": 87}}]}}, "schema": []}
{"input": "In this review, we re-examine a dangerous liaison between several viral and bacterial infections and the most significant genetic factor for AD, APOE epsilon4, and the possible impact of this alliance on AD development.", "output": {"entities": {"gene": [{"text": "APOE", "start": 145, "end": 149}], "disease": [{"text": "bacterial infections", "start": 76, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, PKM2 (+) and TRIM35 (-) contribute to the aggressiveness and poor prognosis of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 94, "end": 97}], "disease": [{"text": "aggressiveness", "start": 57, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Using tissue microarrays we examined both nuclear and cytoplasmic levels of MMR proteins MSH2, MSH6, MSH3, MLH1 and PMS2 in more than 200 cases of cutaneous SCC and basal cell carcinoma (BCC).", "output": {"entities": {"gene": [{"text": "PMS2", "start": 116, "end": 120}], "disease": [{"text": "basal cell carcinoma", "start": 165, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest that TIP30 is a key regulator for maintaining ER (+) and ER (-) luminal pools in the mammary luminal lineage, and loss of it promotes expansion of ER (+) luminal progenitors and mature cells and ER (+) mammary tumorigenesis.", "output": {"entities": {"gene": [{"text": "TIP30", "start": 41, "end": 46}], "disease": [{"text": "mammary tumorigenesis", "start": 238, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Several candidate TSGs, among which methyl-CpG-binding domain protein 1 (MBD1), CpG-binding protein CXXC1, Sma-and Mad-related protein 4 (SMAD4), deleted in colon cancer (DCC) and methyl-CpG-binding domain protein 2 (MBD2) are closely linked on a 4-Mb DNA region on chromosome18q21.", "output": {"entities": {"gene": [{"text": "CXXC1", "start": 100, "end": 105}], "disease": [{"text": "colon cancer", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The TSN of 1 cell line and 2 primary uveal melanoma cultures inhibited the dendritic cell maturation and did not induce M2 macrophage polarization in vitro.", "output": {"entities": {"gene": [{"text": "TSN", "start": 4, "end": 7}], "disease": [{"text": "uveal melanoma", "start": 37, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "IGF treatment under hypoxic conditions suppressed increased radiation sensitivity in these cell lines by pharmacologically inhibiting the phosphoinositide 3-kinase-mammalian target of rapamycin pathway, a major IGF signal-transduction pathway.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 164, "end": 193}], "disease": [{"text": "hypoxic", "start": 20, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "In addition to literature data on KYN/TRY ratio (IDO activity index), we observe neopterin levels (index of activity of rate-limiting enzyme of guanine-BH4 pathway) to be higher in carriers of high (T) than of low (A) producers alleles; and to correlate with AAMPD markers (e. g., insulin resistance, body mass index, mortality risk), and with IFN-alpha-induced depression in hepatitis C patients.", "output": {"entities": {"gene": [{"text": "IDO", "start": 49, "end": 52}], "disease": [{"text": "insulin resistance", "start": 281, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Using a NOD/SCID mouse subcutaneous BJAB lymphoma xenograft model, the tropism of the firefly luciferase (fLuc) labeled MSC was monitored by bioluminescent imaging (BLI) for fLuc activity.", "output": {"entities": {"gene": [{"text": "MSC", "start": 120, "end": 123}], "disease": [{"text": "lymphoma", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that Ets-1 activity contributes to baseline expression of the BMP4 gene and is the predominant mediator of the HIF-dependent BMP4 induction under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 28, "end": 33}], "disease": [{"text": "hypoxic", "start": 169, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "We describe a 54-year-old man with CD2, CD7, and CD56-positive but CD3, CD4, and CD8-negative aggressive NK cell lymphoma/leukemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 72, "end": 75}], "disease": [{"text": "leukemia", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "However, the function of HOXB13 in normal cell growth and tumorigenesis is not yet known.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 25, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate activity and gene expression of AT LPL and HSL at fasting and 6 h after meal in two insulin-resistant groups-obese with Type 2 diabetes and obese without diabetes-and in non-diabetic normal-weight controls.", "output": {"entities": {"gene": [{"text": "LPL", "start": 73, "end": 76}], "disease": [{"text": "weight", "start": 228, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "In the Alzheimer' s disease brain, the lysosomal enzyme asparaginyl endopeptidase is activated and translocated from the neuronal lysosomes to the cytoplasm, probably due to brain acidosis caused by ischemic changes associated with age-associated microinfarcts.", "output": {"entities": {"gene": [{"text": "asparaginyl endopeptidase", "start": 56, "end": 81}], "disease": [{"text": "acidosis", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "However, altered regulation of SOX3 in individuals with XX male sex reversal has not been demonstrated.", "output": {"entities": {"gene": [{"text": "SOX3", "start": 31, "end": 35}], "disease": [{"text": "sex reversal", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In a double-blind randomized study, 42 healthy subjects took 4 g daily of purified omega-3 PUFA, eicosapentaenoic acid (EPA), or monounsaturated, oleic acid (OA), for 3 months.", "output": {"entities": {"gene": [{"text": "EPA", "start": 120, "end": 123}], "disease": [{"text": "blind", "start": 12, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Heavier weight was associated with both the prevalence of secondary hyperparathyroidism and the serum concentration of PTH.", "output": {"entities": {"gene": [{"text": "PTH", "start": 119, "end": 122}], "disease": [{"text": "weight", "start": 8, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Given the high expression levels of KISS1 and KISS1R in the hypothalamus and the pituitary respectively, we hypothesized that this system could possibly affect tumor invasiveness and clinical behavior of pituitary tumors.", "output": {"entities": {"gene": [{"text": "KISS1R", "start": 46, "end": 52}], "disease": [{"text": "pituitary tumors", "start": 204, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "We show that common heterochromatin antigenic protein markers [HP1alpha,-beta,-gamma and mono-, di-, and trimethylated histone H3 lysine 9 (H3K9)], although present in human blood progenitor CD34 + cells, differentiated lymphocytes, and monocytes, are absent in neutrophil granulocytes and to large extent, in eosinophils.", "output": {"entities": {"gene": [{"text": "CD34", "start": 191, "end": 195}], "disease": [{"text": "mono", "start": 89, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Association of polymorphism in the transcription factor LBP-1c/CP2/LSF gene with Alzheimer' s disease and major depression.", "output": {"entities": {"gene": [{"text": "LSF", "start": 67, "end": 70}], "disease": [{"text": "major depression", "start": 106, "end": 122}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LSF", "start": 67, "end": 70}, "tail": {"text": "major depression", "start": 106, "end": 122}}]}}, "schema": []}
{"input": "Results of inhibition assays suggested that enhanced expression of adhesion molecules was dependent on the activation of nuclear factor kappaB (NF-kappaB) and extracellular signal-regulated kinase and that p38 mitogen-activated protein kinase pathways also contributed to the release of IL-6.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 144, "end": 153}], "disease": [{"text": "adhesion", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 91, "end": 96}], "disease": [{"text": "X-linked adrenal hypoplasia congenita", "start": 38, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 91, "end": 96}, "tail": {"text": "X-linked adrenal hypoplasia congenita", "start": 38, "end": 75}}]}}, "schema": []}
{"input": "In addition, ENG hypermethylation occurs in a subset of human EAC, and early during BE-associated esophageal neoplastic progression.", "output": {"entities": {"gene": [{"text": "ENG", "start": 13, "end": 16}], "disease": [{"text": "esophageal", "start": 98, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We measured 381 genomewide markers and performed genetic linkage analyses in search of loci influencing coronary artery calcification (CAC), a measure of atherosclerosis determined by electron beam computed tomography, in 948 non-Hispanic white siblings (mean age [+/-standard deviation] = 59. 6 +/-9. 9 years; 73. 7% hypertensive).", "output": {"entities": {"gene": [{"text": "CAC", "start": 135, "end": 138}], "disease": [{"text": "coronary artery calcification", "start": 104, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "These data provide new insights into the action of lipocalin 2 and raise the possibility that the administration of lipocalin 2 may be useful for inhibiting tumor angiogenesis, in addition to suppressing tumor metastasis, in cancers which show ras activation.", "output": {"entities": {"gene": [{"text": "lipocalin 2", "start": 51, "end": 62}], "disease": [{"text": "tumor", "start": 157, "end": 162}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "lipocalin 2", "start": 51, "end": 62}, "tail": {"text": "tumor", "start": 157, "end": 162}}]}}, "schema": []}
{"input": "To study the effects of biological clock protein on circadian disorders in hypoxic-ischemic brain damage (HIBD) by examining levels of CLOCK and BMAL1 proteins in the pineal gland of neonatal rats.", "output": {"entities": {"gene": [{"text": "CLOCK", "start": 135, "end": 140}], "disease": [{"text": "hypoxic", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Adenosine deaminase completely abolished reactive hyperemia during control perfusion but only delayed it under adrenaline perfusion.", "output": {"entities": {"gene": [{"text": "Adenosine deaminase", "start": 0, "end": 19}], "disease": [{"text": "reactive hyperemia", "start": 41, "end": 59}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Adenosine deaminase", "start": 0, "end": 19}, "tail": {"text": "reactive hyperemia", "start": 41, "end": 59}}]}}, "schema": []}
{"input": "Here we directly compare MSI in the peripheral blood leukocyte (PBL) DNA of seven HNPCC patients carrying different types of pathogenic MMR mutations in MLH1 and MSH2 genes with the PBL DNA of normal age-matched controls and of patients with sporadic colorectal cancer (SCRC).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 162, "end": 166}], "disease": [{"text": "sporadic", "start": 242, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "We conclude that disease manifestation in CF is modulated by loci in the partially imprinted region 3' of CFTR that determine stature, food intake and energy homeostasis, such as the Silver-Russel-Syndrome candidate gene region and LEP.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 106, "end": 110}], "disease": [{"text": "stature", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.", "output": {"entities": {"gene": [{"text": "PCDH10", "start": 111, "end": 117}], "disease": [{"text": "alcohol dependency", "start": 277, "end": 295}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PCDH10", "start": 111, "end": 117}, "tail": {"text": "alcohol dependency", "start": 277, "end": 295}}]}}, "schema": []}
{"input": "Collectively, our results provide the first demonstration that SGEF is a novel promoter of human prostate cancer progression and development.", "output": {"entities": {"gene": [{"text": "SGEF", "start": 63, "end": 67}], "disease": [{"text": "prostate cancer", "start": 97, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "We developed a new ELISA to examine levels of LILRA3 in serum, synovial fluid, and/or culture supernatants from controls and patients with RA, degenerative arthritis, or gout.", "output": {"entities": {"gene": [{"text": "LILRA3", "start": 46, "end": 52}], "disease": [{"text": "degenerative arthritis", "start": 143, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Moreover, high levels of MTBP in human HCC tissues are correlated with cytoplasmic localization of p-Erk1/2.", "output": {"entities": {"gene": [{"text": "MTBP", "start": 25, "end": 29}], "disease": [{"text": "HCC", "start": 39, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MTBP", "start": 25, "end": 29}, "tail": {"text": "HCC", "start": 39, "end": 42}}]}}, "schema": []}
{"input": "BALB/c Fech (m1Pas) mice have a mutated ferrochelatase gene resulting in protoporphyria that models the hepatic injury occurring sporadically in human erythropoietic protoporphyria.", "output": {"entities": {"gene": [{"text": "ferrochelatase", "start": 40, "end": 54}], "disease": [{"text": "protoporphyria", "start": 73, "end": 87}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ferrochelatase", "start": 40, "end": 54}, "tail": {"text": "protoporphyria", "start": 73, "end": 87}}]}}, "schema": []}
{"input": "BCR-ABL1 kinase inhibits uracil DNA glycosylase UNG2 to enhance oxidative DNA damage and stimulate genomic instability.", "output": {"entities": {"gene": [{"text": "BCR", "start": 0, "end": 3}], "disease": [{"text": "genomic instability", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 8, "end": 28}], "disease": [{"text": "neurohypophyseal diabetes insipidus", "start": 79, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "arginine vasopressin", "start": 8, "end": 28}, "tail": {"text": "neurohypophyseal diabetes insipidus", "start": 79, "end": 114}}]}}, "schema": []}
{"input": "Androgen modulation of adhesion and antiadhesion molecules in PC-3 prostate cancer cells expressing androgen receptor.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 100, "end": 117}], "disease": [{"text": "adhesion", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "PRRT2 (proline-rich transmembrane protein 2 gene) has been identified as the major gene in all 3 conditions, found to be mutated in 80 to 90% of familial and 30 to 35% of sporadic cases.", "output": {"entities": {"gene": [{"text": "proline-rich transmembrane protein 2 gene", "start": 7, "end": 48}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "We employed adenovirus-mediated RNA interference technique to knock down CIAPIN1 expression in HCC cells and observed its effects on HCC cell growth in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "HCC", "start": 95, "end": 98}], "disease": [{"text": "adenovirus", "start": 12, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The function of TRIM59 was elucidated using short hairpin RNA (shRNA)-mediated knockdown of the gene in human CaP cells, which caused S-phase cell-cycle arrest and cell growth retardation.", "output": {"entities": {"gene": [{"text": "TRIM59", "start": 16, "end": 22}], "disease": [{"text": "growth retardation", "start": 169, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We examined 48 Japanese patients with schizophrenia and 32 patients with alcohol dependence to detect mutations in the retinoid X receptor beta gene (RXRB) on chromosome 6p21. 3, the NURR1 gene (NR4A2) on chromosome 2q22-q23, and the PPAR alpha gene (PPARA) on chromosome 22q12. 2-13. 1.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 239, "end": 249}], "disease": [{"text": "alcohol dependence", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to assess the incidence, timing and identify pharmacogenetic, efavirenz (EFV) pharmacokinetic and biochemical predictors of EFV-based antiretroviral therapy (ART) drug-induced liver injury (DILI).", "output": {"entities": {"gene": [{"text": "ART", "start": 190, "end": 193}], "disease": [{"text": "drug-induced liver injury", "start": 195, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Recessive inactivating mutations in WNT1 are a new cause of OI type IV.", "output": {"entities": {"gene": [{"text": "WNT1", "start": 36, "end": 40}], "disease": [{"text": "OI type IV", "start": 60, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT1", "start": 36, "end": 40}, "tail": {"text": "OI type IV", "start": 60, "end": 70}}]}}, "schema": []}
{"input": "We studied 75 astrocytic tumors with different degrees of anaplasia including juvenile pilocytic astrocytoma (JPA), low-grade astrocytoma (LGA), anaplastic astrocytoma (AA), and glioblastoma multiforme (GBM) to determine whether standard CD44 (CD44s) can be used as a clinically useful marker distinguishing between low-and high-grade gliomas.", "output": {"entities": {"gene": [{"text": "LGA", "start": 139, "end": 142}], "disease": [{"text": "juvenile pilocytic astrocytoma", "start": 78, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "These results provide further support for the notion that the cognitive difficulties associated with depression are subtle and best detected with sensitive neurophysiological indices, such as P300.", "output": {"entities": {"gene": [{"text": "P300", "start": 192, "end": 196}], "disease": [{"text": "depression", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that disruption of the function of FAK scaffolding through its Pro-878/881 motif suppressed mammary tumor growth and metastasis in a well characterized murine model of human breast cancer.", "output": {"entities": {"gene": [{"text": "FAK", "start": 51, "end": 54}], "disease": [{"text": "mammary tumor", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations.", "output": {"entities": {"gene": [{"text": "ND6", "start": 36, "end": 39}], "disease": [{"text": "LHON", "start": 119, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND6", "start": 36, "end": 39}, "tail": {"text": "LHON", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "Our results expand the set of pathological mutations in DYNC1H1, reinforce the role of cytoplasmic dynein in disorders of neuronal migration, and provide evidence for a syndrome including spinal nerve degeneration and brain developmental problems.", "output": {"entities": {"gene": [{"text": "DYNC1H1", "start": 56, "end": 63}], "disease": [{"text": "nerve degeneration", "start": 195, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Thus, endothelial FGF2 is overproduced in IPH and contributes to SMC hyperplasia in IPH, identifying FGF2 as a promising target for new treatments against PH.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 18, "end": 22}], "disease": [{"text": "hyperplasia", "start": 69, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).", "output": {"entities": {"gene": [{"text": "TRIM32", "start": 48, "end": 54}], "disease": [{"text": "BBS11", "start": 113, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRIM32", "start": 48, "end": 54}, "tail": {"text": "BBS11", "start": 113, "end": 118}}]}}, "schema": []}
{"input": "In this study we showed that the motor coordination impairment observed in HCN1-/-mice is paralleled by a decline of GABA content in the cerebellum.", "output": {"entities": {"gene": [{"text": "HCN1", "start": 75, "end": 79}], "disease": [{"text": "coordination impairment", "start": 39, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HCN1", "start": 75, "end": 79}, "tail": {"text": "coordination impairment", "start": 39, "end": 62}}]}}, "schema": []}
{"input": "Estrogen-related receptor alpha confers methotrexate resistance via attenuation of reactive oxygen species production and P53 mediated apoptosis in osteosarcoma cells.", "output": {"entities": {"gene": [{"text": "Estrogen-related receptor alpha", "start": 0, "end": 31}], "disease": [{"text": "osteosarcoma", "start": 148, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Estrogen-related receptor alpha", "start": 0, "end": 31}, "tail": {"text": "osteosarcoma", "start": 148, "end": 160}}]}}, "schema": []}
{"input": "Mesenteric vein thrombosis in a patient heterozygous for factor V Leiden and G20210A prothrombin genotypes.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 57, "end": 72}], "disease": [{"text": "Mesenteric vein thrombosis", "start": 0, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "factor V Leiden", "start": 57, "end": 72}, "tail": {"text": "Mesenteric vein thrombosis", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "CF heterozygotes shared the decrease of alpha 1-lipoprotein with the patients while exhibiting small but significant depressions of alpha 2-macroglobulin and IgG.", "output": {"entities": {"gene": [{"text": "alpha 2-macroglobulin", "start": 132, "end": 153}], "disease": [{"text": "depressions", "start": 117, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha 2-macroglobulin", "start": 132, "end": 153}, "tail": {"text": "depressions", "start": 117, "end": 128}}]}}, "schema": []}
{"input": "The patient was found to be lupus anticoagulant positive and homozygous for methylenetetrahydrofolate reductase C677T mutation.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 76, "end": 111}], "disease": [{"text": "lupus anticoagulant", "start": 28, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "TLR3 deficiency in patients with herpes simplex encephalitis.", "output": {"entities": {"gene": [{"text": "TLR3", "start": 0, "end": 4}], "disease": [{"text": "herpes simplex encephalitis", "start": 33, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TLR3", "start": 0, "end": 4}, "tail": {"text": "herpes simplex encephalitis", "start": 33, "end": 60}}]}}, "schema": []}
{"input": "Thus, TNF-alpha-induced RANTES expression may have a critical role in cell-mediated liver injury associated with alcoholic hepatitis.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 24, "end": 30}], "disease": [{"text": "alcoholic hepatitis", "start": 113, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RANTES", "start": 24, "end": 30}, "tail": {"text": "alcoholic hepatitis", "start": 113, "end": 132}}]}}, "schema": []}
{"input": "Nurr1 protein in BA 9 was significantly lower in major depression (P & lt; 0. 05) and lower at a trend level in schizophrenia (P = 0. 056) than in the controls.", "output": {"entities": {"gene": [{"text": "Nurr1", "start": 0, "end": 5}], "disease": [{"text": "major depression", "start": 49, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nurr1", "start": 0, "end": 5}, "tail": {"text": "major depression", "start": 49, "end": 65}}]}}, "schema": []}
{"input": "Polymorphisms in dipeptidyl peptidase IV gene are associated with the risk of myocardial infarction in patients with atherosclerosis.", "output": {"entities": {"gene": [{"text": "IV gene", "start": 38, "end": 45}], "disease": [{"text": "myocardial infarction", "start": 78, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Common CYP2C8 and CYP2C9 polymorphisms were studied in a cross-sectional study, involving 134 NSAID-related bleeding patients and in 177 patients receiving NSAID with no adverse effects.", "output": {"entities": {"gene": [{"text": "CYP2C8", "start": 7, "end": 13}], "disease": [{"text": "bleeding", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "As ENaC activity in the kidney is regulated by the steroid hormone aldosterone acting through the mineralocorticoid receptor, we have screened the mineralocorticoid receptor gene (MLR) for variants and have identified heterozygous mutations in one sporadic and four dominant kindreds.", "output": {"entities": {"gene": [{"text": "MLR", "start": 180, "end": 183}], "disease": [{"text": "sporadic", "start": 248, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Inducible nitric oxide synthase-2 (NOS2) expression has been shown to be reduced in cystic fibrosis (CF) epithelial cells.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 35, "end": 39}], "disease": [{"text": "cystic fibrosis", "start": 84, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "No association between NAT2 genotype and bladder cancer risk was found whether genotype was considered alone or in combination with smoking, in either stratified or logistic regression analysis that adjusted for age, sex, and race.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 23, "end": 27}], "disease": [{"text": "smoking", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Gene therapy and gene transfer, including site-and organ-specific targeted gene transfer have become powerful tools for studying the potential role of the 2 isoforms of HO, HO-1/HO-2, in the treatment of cardiovascular disease, as well as diabetes.", "output": {"entities": {"gene": [{"text": "HO-2", "start": 178, "end": 182}], "disease": [{"text": "diabetes", "start": 239, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.", "output": {"entities": {"gene": [{"text": "GP1BB", "start": 17, "end": 22}], "disease": [{"text": "autosomal dominant macrothrombocytopenia", "start": 43, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GP1BB", "start": 17, "end": 22}, "tail": {"text": "autosomal dominant macrothrombocytopenia", "start": 43, "end": 83}}]}}, "schema": []}
{"input": "The number and adhering activity of CR1 high expression genomic type gallbladder carcinomas (0. 749 +/-0. 22, 42. 1 +/-6. 2) were significantly lower than those of healthy individuals (1. 240 +/-0. 29, 63. 9 +/-7. 2), and were also significantly lower than those of healthy individuals (0. 921 +/-0. 23, 54. 8 +/-7. 1), but no difference was observed between the number and adhering activity of CR1 lower expression genomic type gallbladder carcinomas (0. 582 +/-0. 18, 44. 3 +/-5. 5) and those of healthy individuals (0. 610 +/-0. 20, 45. 8 +/-5. 7) (P > 0. 05).", "output": {"entities": {"gene": [{"text": "CR1", "start": 36, "end": 39}], "disease": [{"text": "carcinomas", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The influence of angiotensinogen genotype on blood pressure was assessed with a general linear model ANOVA with adjustment for age, sex, body mass index, and alcohol consumption.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 101, "end": 106}], "disease": [{"text": "alcohol consumption", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Protein secondary-structure prediction for the MT-ATP6 with the two M8a-specific amino acid changes further supported our inferences.", "output": {"entities": {"gene": [{"text": "MT-ATP6", "start": 47, "end": 54}], "disease": [{"text": "secondary", "start": 8, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We also show that this cytotoxic autophagic process represses the apoptosis program by reducing the cytosolic release of the apoptogenic factors Smac/DIABLO and cytochrome c. Altogether our findings suggest that autophagy can contribute to execution of death in mammalian cells that are exposed to mild ER stress.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 161, "end": 173}], "disease": [{"text": "mild", "start": 298, "end": 302}]}, "relations": {}}, "schema": []}
{"input": "The HtrA3-L level was increased in malignant tumor tissues compared to benign tumor tissues and control tissues from patients with benign lesions, and elevated in normal tissues from patients with thyroid carcinoma compared to normal tissues from patients with benign lesions.", "output": {"entities": {"gene": [{"text": "HtrA3", "start": 4, "end": 9}], "disease": [{"text": "benign tumor", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Ambulatory blood pressure monitoring (ABPM): systolic blood pressure (SBP): 116 +/-1. 9 mmHg, diastolic blood pressure (DBP): 73. 7 +/-0. 9 mmHg.", "output": {"entities": {"gene": [{"text": "DBP", "start": 120, "end": 123}], "disease": [{"text": "systolic blood pressure", "start": 45, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein.", "output": {"entities": {"gene": [{"text": "UMOD", "start": 69, "end": 73}], "disease": [{"text": "FJHN", "start": 8, "end": 12}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UMOD", "start": 69, "end": 73}, "tail": {"text": "FJHN", "start": 8, "end": 12}}]}}, "schema": []}
{"input": "Vaccination with dendritic cells transfected with mRNA-encoded folate-receptor-alpha for relapsed metastatic ovarian cancer.", "output": {"entities": {"gene": [{"text": "folate-receptor-alpha", "start": 63, "end": 84}], "disease": [{"text": "ovarian cancer", "start": 109, "end": 123}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "folate-receptor-alpha", "start": 63, "end": 84}, "tail": {"text": "ovarian cancer", "start": 109, "end": 123}}]}}, "schema": []}
{"input": "Swiss-albino rats were recruited in the study as follows; Group 1 rats subjected to simple laparotomy known as the sham group; Group 2 rats subjected to bile duct ligation (BDL); Group 3 bile duct ligated rats treated with CAPE.", "output": {"entities": {"gene": [{"text": "CAPE", "start": 223, "end": 227}], "disease": [{"text": "albino", "start": 6, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "In Arabian children referred with retinal dystrophy, we have observed that a specific biallelic nonsense mutation in the gene encoding tubby-like protein 1 (TULP1, c. 901C > T (p. Gln301 *)) is recurrent.", "output": {"entities": {"gene": [{"text": "TULP1", "start": 157, "end": 162}], "disease": [{"text": "retinal dystrophy", "start": 34, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In this article, the SH3BP2 gene in nonfamilial cherubism was examined.", "output": {"entities": {"gene": [{"text": "SH3BP2", "start": 21, "end": 27}], "disease": [{"text": "cherubism", "start": 48, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SH3BP2", "start": 21, "end": 27}, "tail": {"text": "cherubism", "start": 48, "end": 57}}]}}, "schema": []}
{"input": "The intricate intracellular communication between stromal and epithelial cells, which involves cell-cell-, cell-insoluble extracellular matrix-(ECM), and cell-soluble factor-mediated signaling processes, is an attractive target for therapeutic intervention in hormone-refractory and bone-metastatic prostate cancer.", "output": {"entities": {"gene": [{"text": "ECM", "start": 144, "end": 147}], "disease": [{"text": "metastatic prostate cancer", "start": 288, "end": 314}]}, "relations": {}}, "schema": []}
{"input": "Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome.", "output": {"entities": {"gene": [{"text": "MLL2", "start": 47, "end": 51}], "disease": [{"text": "Kabuki syndrome", "start": 73, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLL2", "start": 47, "end": 51}, "tail": {"text": "Kabuki syndrome", "start": 73, "end": 88}}]}}, "schema": []}
{"input": "We found no evidence of an XRCC3 x smoking or alcohol interaction or an XRCC1 x alcohol interaction.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 72, "end": 77}], "disease": [{"text": "smoking", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The associated variants at the 1q21. 3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1.", "output": {"entities": {"gene": [{"text": "SETDB1", "start": 150, "end": 156}], "disease": [{"text": "melanoma", "start": 109, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SETDB1", "start": 150, "end": 156}, "tail": {"text": "melanoma", "start": 109, "end": 117}}]}}, "schema": []}
{"input": "The genetic abnormalities are known to be located in three specific regions on the GDH protein.", "output": {"entities": {"gene": [{"text": "GDH", "start": 83, "end": 86}], "disease": [{"text": "abnormalities", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "The novel R561C missense mutation in our patient with mild SIOD is additional evidence for the genotype-phenotype correlation reported for SMARCAL1 mutations.", "output": {"entities": {"gene": [{"text": "SMARCAL1", "start": 139, "end": 147}], "disease": [{"text": "mild", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The mRNA level of Pax2 was assessed by real-time PCR in the eutopic and ectopic endometria of 14 patients and in the endometrium from women without endometriosis (n = 20).", "output": {"entities": {"gene": [{"text": "Pax2", "start": 18, "end": 22}], "disease": [{"text": "endometriosis", "start": 148, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pax2", "start": 18, "end": 22}, "tail": {"text": "endometriosis", "start": 148, "end": 161}}]}}, "schema": []}
{"input": "We argue that in a society where couples have considerable autonomy relating to decisions about the fetus at least until viability, the routine restriction of PND for minor genetic abnormalities would be an unjust infringement of individual liberty.", "output": {"entities": {"gene": [{"text": "PND", "start": 159, "end": 162}], "disease": [{"text": "abnormalities", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation.", "output": {"entities": {"gene": [{"text": "Rpl27a", "start": 47, "end": 53}], "disease": [{"text": "hyperpigmentation", "start": 316, "end": 333}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rpl27a", "start": 47, "end": 53}, "tail": {"text": "hyperpigmentation", "start": 316, "end": 333}}]}}, "schema": []}
{"input": "REDD1 mutants that fail to bind 14-3-3 are defective in eliciting TSC2/14-3-3 dissociation and mTORC1 inhibition, while TSC2 mutants that do not bind 14-3-3 are inactive in hypoxia signaling to mTORC1.", "output": {"entities": {"gene": [{"text": "14-3-3", "start": 32, "end": 38}], "disease": [{"text": "hypoxia", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "As a molecular marker of oxidative stress, increased COX-2 expression was noted in 17 of 18 (94%) TCCs, 4 of 4 (100%) papillomas, and 39 of 47 (83%) PN hyperplasias.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 53, "end": 58}], "disease": [{"text": "hyperplasias", "start": 152, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 53, "end": 58}, "tail": {"text": "hyperplasias", "start": 152, "end": 164}}]}}, "schema": []}
{"input": "PHOX2B, therefore, stands as the first gene for which germline mutations predispose to NB.", "output": {"entities": {"gene": [{"text": "PHOX2B", "start": 0, "end": 6}], "disease": [{"text": "NB", "start": 87, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PHOX2B", "start": 0, "end": 6}, "tail": {"text": "NB", "start": 87, "end": 89}}]}}, "schema": []}
{"input": "Genes found to be most influential to development of the highest grade of astrocytoma, Glioblastoma multiforme were: COL4A1, EGFR, BTF3, MPP2, RAB31, CDK4, CD99, ANXA2, TOP2A, and SERBP1.", "output": {"entities": {"gene": [{"text": "BTF3", "start": 131, "end": 135}], "disease": [{"text": "astrocytoma", "start": 74, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or G-protein beta3-subunit (GNB3) rs2301339 polymorphism modifies the risk of myocardial infarction (MI) or stroke.", "output": {"entities": {"gene": [{"text": "beta3", "start": 110, "end": 115}], "disease": [{"text": "myocardial infarction", "start": 175, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We aimed to determine the NO content in the cerebrospinal fluid (CSF) and the expression of NO synthase (NOS) isoforms, that is, NOS1, NOS2, and NOS3 in the ACC in depression.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 135, "end": 139}], "disease": [{"text": "depression", "start": 164, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2", "start": 135, "end": 139}, "tail": {"text": "depression", "start": 164, "end": 174}}]}}, "schema": []}
{"input": "Serum samples collected from 446 patients, including 181 with chronic active hepatitis C, 50 with autoimmune chronic hepatitis, 117 in hemodialysis, 30 asymptomatic carriers of anti-HCV and 68 with indeterminate serology (RIBA indeterminate results), as well as from 121 controls were tested with the commercial, single-step assay and with nested polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "RIBA", "start": 222, "end": 226}], "disease": [{"text": "asymptomatic", "start": 152, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The effect of HGF on reducing excessive dermal scarring was observed by adenovirus-mediated gene transfer.", "output": {"entities": {"gene": [{"text": "HGF", "start": 14, "end": 17}], "disease": [{"text": "scarring", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "We observed four families in which carrier women had normal brain magnetic resonance imaging (MRI) and mild mental retardation, with or without epilepsy.", "output": {"entities": {"gene": [{"text": "MRI", "start": 94, "end": 97}], "disease": [{"text": "epilepsy", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Our previous studies demonstrated that adenovirus-mediated overexpression of melanoma differentiation-associated gene-7 (Ad-mda7) leads to rapid induction of double-stranded RNA-dependent protein kinase (PKR) and activation of its downstream targets, resulting in apoptosis induction in human lung cancer cells.", "output": {"entities": {"gene": [{"text": "PKR", "start": 204, "end": 207}], "disease": [{"text": "adenovirus", "start": 39, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "' Behr syndrome' with OPA1 compound heterozygote mutations.", "output": {"entities": {"gene": [{"text": "OPA1", "start": 22, "end": 26}], "disease": [{"text": "Behr syndrome", "start": 2, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OPA1", "start": 22, "end": 26}, "tail": {"text": "Behr syndrome", "start": 2, "end": 15}}]}}, "schema": []}
{"input": "Messenger RNA expression of Akt1, Akt3, PTEN, and PDK1 by competitive reverse transcription polymerase polymerase chain reaction; protein expression of Akt1, Akt3, PTEN, PDK1, phosphorylated Akt1 (Ser473 and Thr308), phosphorylated PDK1, and phosphorylated PTEN by Western blot; and catalytic activities of Akt1, Akt3, and PDK1 by enzymatic assays were determined in prefrontal cortex and hippocampus obtained from suicide subjects and nonpsychiatric control subjects.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 40, "end": 44}], "disease": [{"text": "suicide", "start": 415, "end": 422}]}, "relations": {}}, "schema": []}
{"input": "The variant hepatocyte nuclear factor 1 activates the P1 promoter of the human alpha-folate receptor gene in ovarian carcinoma.", "output": {"entities": {"gene": [{"text": "hepatocyte nuclear factor 1", "start": 12, "end": 39}], "disease": [{"text": "ovarian carcinoma", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A total of 170 patients with essential hypertension (EH group) and 154 normotensive subjects (Control group) were genotyped for the cytoskeletal protein single nucleotide polymorphism G614T of the α-adducin gene by PCR-RFLP technique.", "output": {"entities": {"gene": [{"text": "cytoskeletal protein", "start": 132, "end": 152}], "disease": [{"text": "essential hypertension", "start": 29, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "A recurrent p. M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 33, "end": 42}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 73, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 33, "end": 42}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 73, "end": 111}}]}}, "schema": []}
{"input": "KIT expression may represent a potential diagnostic pitfall in the evaluation of YWHAE-NUTM2A/B endometrial stromal sarcoma presenting with pelvic/abdominal mass, particularly in situations where its uterine origin is not definitive, and thus a panel of antibodies that includes ANO1 and cyclin D1 is necessary.", "output": {"entities": {"gene": [{"text": "ANO1", "start": 279, "end": 283}], "disease": [{"text": "endometrial stromal sarcoma", "start": 96, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the expression of CREB-H mRNA is aberrantly reduced in hepatoma tissues and cells.", "output": {"entities": {"gene": [{"text": "CREB-H", "start": 31, "end": 37}], "disease": [{"text": "hepatoma", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Epidermal growth factor receptor (EGFR) has been recently implicated in pathological tissue remodelling and sustained remodelling processes can lead to pathological outcomes, such as cardiac hypertrophy in heart failure.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 34, "end": 38}], "disease": [{"text": "cardiac hypertrophy", "start": 183, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of mutant KRAS2, inactivation of TP53 and SMAD4, and aberrant DNA methylation of a seven-gene panel is similar in familial pancreatic adenocarcinomas as in sporadic pancreatic adenocarcinomas.", "output": {"entities": {"gene": [{"text": "TP53", "start": 48, "end": 52}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Here, we used MCT4 immuno-staining of human breast cancer tissue microarrays (TMAs; & gt; 180 triple-negative patients) to directly assess the prognostic value of the \" Reverse Warburg Effect. \"", "output": {"entities": {"gene": [{"text": "MCT4", "start": 14, "end": 18}], "disease": [{"text": "breast cancer", "start": 44, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCT4", "start": 14, "end": 18}, "tail": {"text": "breast cancer", "start": 44, "end": 57}}]}}, "schema": []}
{"input": "Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS.", "output": {"entities": {"gene": [{"text": "C5ORF42", "start": 35, "end": 42}], "disease": [{"text": "JBTS", "start": 103, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C5ORF42", "start": 35, "end": 42}, "tail": {"text": "JBTS", "start": 103, "end": 107}}]}}, "schema": []}
{"input": "Because dissociation of the native SOD1 dimer is required for its in vitro aggregation, we initiated an in silico screening program to find drug-like molecules that would stabilize the SOD1 dimer.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 35, "end": 39}], "disease": [{"text": "dissociation", "start": 8, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "To better understand CAA mechanisms in dementia, we assessed the frontal cortex of 62 consecutive cases of Alzheimer' s disease (AD), vascular dementia (VaD), and mixed dementia (MD) using immunohistochemistry with antibodies to Abeta, smooth muscle actin and the carboxyl-terminal peptides to detect Abeta (40) and Abeta (42).", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 236, "end": 255}], "disease": [{"text": "vascular dementia", "start": 134, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel gene, called anti-zuai-1 (AZU-1), that was abundantly expressed in non-and premalignant cells and tissues but was appreciably reduced in breast tumor cell types and in primary tumors.", "output": {"entities": {"gene": [{"text": "AZU-1", "start": 48, "end": 53}], "disease": [{"text": "premalignant", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Promoter-specific DNA methylation of the POMC gene was determined in peripheral blood mononuclear cells of 54 healthy female control subjects, 40 underweight patients with AN, and 21 weight-restored patients with AN using bisulfite sequencing.", "output": {"entities": {"gene": [{"text": "POMC gene", "start": 41, "end": 50}], "disease": [{"text": "underweight", "start": 146, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the protein and mRNA levels of ANXA2, as well as its localization, were determined for the normal human liver, chronic hepatitis liver, and non-tumorous and tumorous portions of HCC tissues.", "output": {"entities": {"gene": [{"text": "HCC", "start": 200, "end": 203}], "disease": [{"text": "chronic hepatitis", "start": 133, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "We have compared KLK6 expression in post-mortem brain tissue in AD, vascular dementia (VaD) and controls.", "output": {"entities": {"gene": [{"text": "KLK6", "start": 17, "end": 21}], "disease": [{"text": "vascular dementia", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Intracranial calcification, white matter involvement and brain atrophy revealed on MRI, lymphocytosis and elevated levels of interferon alpha (IFN-α) in the cerebrospinal fluid (CSF) are features of both AGS and congenital viral infection.", "output": {"entities": {"gene": [{"text": "MRI", "start": 83, "end": 86}], "disease": [{"text": "lymphocytosis", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "SPP1 was found to be significantly upregulated in many kinds of malignant tumors, including gliomas.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 0, "end": 4}], "disease": [{"text": "gliomas", "start": 92, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied single-nucleotide polymorphisms (SNPs) in the pro-opiomelanocortin (POMC) gene for possible association with bone mineral density (BMD) among 384 adult Japanese women and observed significant correlation between adjusted BMD and three SNPs in the promoter region (r > 0. 14, p < 0. 01).", "output": {"entities": {"gene": [{"text": "POMC", "start": 85, "end": 89}], "disease": [{"text": "bone mineral density", "start": 126, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Polymerase chain reaction, single-strand conformation polymorphism and direct sequencing were used to analyze Ki-ras and p53 gene mutations in 73 sporadic colorectal adenomas: 28 LST; 22 IIa-type adenomas; and 23 polypoid adenomas.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 121, "end": 129}], "disease": [{"text": "sporadic", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "For estrogen-dependent MCF-7/BUS breast cancer cells, overexpression of GRP78 inhibits estrogen starvation-induced BAX activation, mitochondrial permeability transition, and consequent apoptosis.", "output": {"entities": {"gene": [{"text": "BAX", "start": 115, "end": 118}], "disease": [{"text": "starvation", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, haplotypes of LEP, LEPR and GHRL polymorphisms were associated with varying measurements of weight, BMI and WC.", "output": {"entities": {"gene": [{"text": "LEP", "start": 27, "end": 30}], "disease": [{"text": "weight", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In mouse hindlimb ischemia model (N = 30/group), autoamputation (limb loss) occurred in 87% and 68% of the mice with saline and Ad encoding β-galactosidase (Ad-LacZ), respectively, whereas only 23% of the mice injected with Ad-F-UCP showed autoamputation after 21 days of treatment.", "output": {"entities": {"gene": [{"text": "UCP", "start": 229, "end": 232}], "disease": [{"text": "autoamputation", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 25, "end": 46}], "disease": [{"text": "Hunter syndrome", "start": 100, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 25, "end": 46}, "tail": {"text": "Hunter syndrome", "start": 100, "end": 115}}]}}, "schema": []}
{"input": "A male infant with methyl-B12 deficiency (cblE) presented at age 6 weeks with lethargy, staring spells, and vomiting.", "output": {"entities": {"gene": [{"text": "cblE", "start": 42, "end": 46}], "disease": [{"text": "vomiting", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, carcinomas with elevated pY-STAT5a demonstrated lower apoptosis as measured by the TUNEL assay and the Bcl-2 to Bax ratio, and showed increased expression of the long and short isoforms of the prolactin receptor.", "output": {"entities": {"gene": [{"text": "prolactin receptor", "start": 206, "end": 224}], "disease": [{"text": "carcinomas", "start": 13, "end": 23}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin receptor", "start": 206, "end": 224}, "tail": {"text": "carcinomas", "start": 13, "end": 23}}]}}, "schema": []}
{"input": "Transmission of SDHD mutations via the maternal line can, in rare cases, result in tumorigenesis.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 16, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 83, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Compared with the NC group, paw swelling, AI, IFN-gamma, and Th1/Th2 were increased, and pulmonary function parameters, IL-4, FoxP3 were decreased significantly in the MC group (P < 0. 05 or P < 0. 01).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 120, "end": 124}], "disease": [{"text": "pulmonary function", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We report a 46, XY boy with a mild focal dermal hypoplasia phenotype who had both wild-type and mutated copies of the PORCN gene and was, therefore, mosaic for the mutation.", "output": {"entities": {"gene": [{"text": "PORCN gene", "start": 118, "end": 128}], "disease": [{"text": "mild", "start": 30, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "For patients showing neonatal lactic acidosis and prolonged mild methylmalonic aciduria, MRC activities and mutations of SUCLG1 or SUCLA2 should be screened for.", "output": {"entities": {"gene": [{"text": "MRC", "start": 89, "end": 92}], "disease": [{"text": "methylmalonic aciduria", "start": 65, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Neurofilament light gene mutations have been linked to a subset of patients with Charcot-Marie-Tooth disease, the most common inherited motor and sensory neuropathy.", "output": {"entities": {"gene": [{"text": "Neurofilament light", "start": 0, "end": 19}], "disease": [{"text": "sensory neuropathy", "start": 146, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Localization of the mutations in the extracellular domain of ectodysplasin A suggested that the primary cause of EDA is a defect in communication between the cells responsible for the development of skin appendages.", "output": {"entities": {"gene": [{"text": "ectodysplasin A", "start": 61, "end": 76}], "disease": [{"text": "EDA", "start": 113, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ectodysplasin A", "start": 61, "end": 76}, "tail": {"text": "EDA", "start": 113, "end": 116}}]}}, "schema": []}
{"input": "To better define the involvement of these genes in sporadic cancers, we characterized expression levels of BRCA1 and BRCA2 transcripts in cancer cell lines derived from neoplasms of the ovary, prostate, and breast and compared them with those expressed in primary cultures of normal epithelial cells established from these organs.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 117, "end": 122}], "disease": [{"text": "sporadic", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "However, unlike health care workers, the NRL allergy phenotype was not significantly associated with promoter polymorphisms in IL13 or IL18 when comparing NRL allergic SB and BE patients with nonsensitized patients and with atopic and nonatopic controls.", "output": {"entities": {"gene": [{"text": "IL13", "start": 127, "end": 131}], "disease": [{"text": "atopic", "start": 224, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Among the ErbB family members, only ErbB1 expression was correlated with insulin sensitivity.", "output": {"entities": {"gene": [{"text": "ErbB1", "start": 36, "end": 41}], "disease": [{"text": "insulin sensitivity", "start": 73, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ErbB1", "start": 36, "end": 41}, "tail": {"text": "insulin sensitivity", "start": 73, "end": 92}}]}}, "schema": []}
{"input": "Genetic and epigenetic analysis of CHEK2 in sporadic breast, colon, and ovarian cancers.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 35, "end": 40}], "disease": [{"text": "sporadic", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, and disease severity in β-hemoglobinopathy patients, as well as the association between these variants with response to hydroxyurea (HU) treatment.", "output": {"entities": {"gene": [{"text": "MAP3K5", "start": 72, "end": 78}], "disease": [{"text": "hemoglobinopathy", "start": 151, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In summary, we demonstrate for the first time that RV inhibits Ang II-induced VSMC hypertrophy, possibly by interfering mainly with the PI (3) K/Akt and p70 (S6K) but also with the ERK 1/2 signaling pathway.", "output": {"entities": {"gene": [{"text": "ERK 1", "start": 181, "end": 186}], "disease": [{"text": "hypertrophy", "start": 83, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ERK 1", "start": 181, "end": 186}, "tail": {"text": "hypertrophy", "start": 83, "end": 94}}]}}, "schema": []}
{"input": "An essential role for CCAAT/enhancer binding protein beta in bleomycin-induced pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "CCAAT/enhancer binding protein beta", "start": 22, "end": 57}], "disease": [{"text": "pulmonary fibrosis", "start": 79, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCAAT/enhancer binding protein beta", "start": 22, "end": 57}, "tail": {"text": "pulmonary fibrosis", "start": 79, "end": 97}}]}}, "schema": []}
{"input": "To examine the role of fractalkine signaling in α-syn-induced-neuroinflammation and neurodegeneration, we used an in vivo mouse model in which human α-syn is overexpressed by an adeno associated viral vector serotype 2 (AAV2) and in vitro phagocytosis and protein internalization assays with primary microglia treated with aggregated α-syn.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 23, "end": 34}], "disease": [{"text": "neurodegeneration", "start": 84, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Our study also suggests that the levels of DNA repair factors 53BP1, BRCA1 and RAD51 could potentially serve as biomarkers to identify laminopathies that present with genomic instability.", "output": {"entities": {"gene": [{"text": "53BP1", "start": 62, "end": 67}], "disease": [{"text": "genomic instability", "start": 167, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Clinical association analysis revealed that the positive expression of IF1 was correlated with large tumor size, lymph node metastasis, venous infiltration and advanced TNM tumor stage in gastric cancer.", "output": {"entities": {"gene": [{"text": "IF1", "start": 71, "end": 74}], "disease": [{"text": "gastric cancer", "start": 188, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "The discovery of mutations in the gene encoding an RNA-binding protein, TAR DNA-binding protein of 43 kD (TDP-43), in familial ALS, strongly implicated abnormalities in RNA processing in the pathogenesis of ALS, although the mechanisms whereby TDP-43 leads to neurodegeneration remain elusive.", "output": {"entities": {"gene": [{"text": "RNA-binding protein", "start": 51, "end": 70}], "disease": [{"text": "abnormalities", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In vitro, starting at 1% parasitemia, Plasmodium falciparum preferentially invaded normal (HbAA) compared to abnormal hemoglobin (HbH, AE, EE, HCS, beta-thalassemia E) red cells (HRBCs).", "output": {"entities": {"gene": [{"text": "HCS", "start": 143, "end": 146}], "disease": [{"text": "abnormal hemoglobin", "start": 109, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The aberrant CpG island hypermethylation of P16, MGMT, and hMLH1 genes could be found in cancer tissues with frequency of about 88. 0%, 27. 2%, and 3. 2%, respectively, and in remote normal-appearing esophageal tissues with frequency of about 36. 8%, 11. 2%, and 0. 0%, respectively.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 49, "end": 53}], "disease": [{"text": "esophageal", "start": 200, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Here we show that mice deficient for the transcriptional cofactor four and a half LIM domains 2 (Fhl2) exhibit a dramatic decrease of bone mass in both genders.", "output": {"entities": {"gene": [{"text": "four and a half LIM domains 2", "start": 66, "end": 95}], "disease": [{"text": "bone mass", "start": 134, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We further found 39% reduction of plaque size in the aortic roots of Plin1 and ApoE double knockout (Plin1-/-ApoE-/-) females compared with ApoE-/-female littermates.", "output": {"entities": {"gene": [{"text": "Plin1", "start": 69, "end": 74}], "disease": [{"text": "plaque", "start": 34, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The frequency of CYP1B1 polymorphism was significantly higher (P < 0. 001) in the group of smoking cases when compared with smoking controls.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 17, "end": 23}], "disease": [{"text": "smoking", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We studied a series of 120 sporadic breast carcinomas using microsatellite markers to identify LOH of BRCA1, BRCA2, p53 and PTEN.", "output": {"entities": {"gene": [{"text": "p53", "start": 116, "end": 119}], "disease": [{"text": "sporadic", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "IL13 rs20541 A allele [assuming recessive model; odds ratio (OR) = 3. 38, 95% CI: (1. 63-7. 00)] showed association with development of non-atopic hand eczema.", "output": {"entities": {"gene": [{"text": "IL13", "start": 0, "end": 4}], "disease": [{"text": "atopic", "start": 140, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "A hepatitis B virus mutant with a new hepatocyte nuclear factor 1 binding site emerging in transplant-transmitted fulminant hepatitis B.", "output": {"entities": {"gene": [{"text": "hepatocyte nuclear factor 1", "start": 38, "end": 65}], "disease": [{"text": "fulminant hepatitis", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to investigate the relationship between polymorphisms in ERCC2, ERCC1 and XRCC1 genes and survival of non-smoking female patients with lung adenocarcinoma.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 91, "end": 96}], "disease": [{"text": "smoking", "start": 123, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.", "output": {"entities": {"gene": [{"text": "PSEN1", "start": 26, "end": 31}], "disease": [{"text": "frontotemporal dementia", "start": 86, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PSEN1", "start": 26, "end": 31}, "tail": {"text": "frontotemporal dementia", "start": 86, "end": 109}}]}}, "schema": []}
{"input": "On the basis of this knowledge, we demonstrate how the loss of RASSF1A function in medulloblastoma cells might be overcome using the novel BH3-only mimetic ABT-737 in combination with chemotherapeutic agents to target the BCL-2 anti-apoptotic members.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 63, "end": 70}], "disease": [{"text": "medulloblastoma", "start": 83, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RASSF1A", "start": 63, "end": 70}, "tail": {"text": "medulloblastoma", "start": 83, "end": 98}}]}}, "schema": []}
{"input": "Via the miR-27a/EGFR axis, mutant p53-273H promotes a sustained EGF-induced extracellular signal-regulated kinase 1/2 activation, thereby facilitating cell proliferation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "extracellular signal-regulated kinase 1", "start": 76, "end": 115}], "disease": [{"text": "tumorigenesis", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.", "output": {"entities": {"gene": [{"text": "FMR-1", "start": 38, "end": 43}], "disease": [{"text": "fragile X syndrome", "start": 73, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMR-1", "start": 38, "end": 43}, "tail": {"text": "fragile X syndrome", "start": 73, "end": 91}}]}}, "schema": []}
{"input": "Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signaling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 169, "end": 178}], "disease": [{"text": "osteoporosis pseudoglioma syndrome", "start": 63, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The NCC inhibitor chlorothiazide abrogates FGF23-induced volume expansion and heart hypertrophy.", "output": {"entities": {"gene": [{"text": "NCC", "start": 4, "end": 7}], "disease": [{"text": "heart hypertrophy", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present protocol was to study the relationship between insulin resistance and LPL in adipose tissue and in plasma, in the particular context of the postprandial period.", "output": {"entities": {"gene": [{"text": "LPL", "start": 93, "end": 96}], "disease": [{"text": "insulin resistance", "start": 70, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "We compared the prevalence of GSTT1 and GSTM1 deletion genotypes in 108 Arab patients with optic neuritis (ON, 26 patients), LHON-like optic neuropathy (LLON, 35 patients), sporadic bilateral optic neuropathy in children (SBON, 21 patients) and non-arteritic ischaemic optic neuropathy (NAION, 26 patients) to 120 ethnicity-matched controls.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 40, "end": 45}], "disease": [{"text": "optic neuropathy", "start": 135, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Isoforms of MAP1S have been implicated in microtubule dynamics and mitotic abnormalities and mitotic cell death.", "output": {"entities": {"gene": [{"text": "MAP1S", "start": 12, "end": 17}], "disease": [{"text": "abnormalities", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Chromosome analysis of the bone marrow showed 49, XX, der (1; 7) (q10; p10), + 8, + 19, + 21 in therapy-related myelodysplastic syndrome with additional chromosomes 8, and 12 and two additional chromosomes 21 in acute leukemia.", "output": {"entities": {"gene": [{"text": "p10", "start": 71, "end": 74}], "disease": [{"text": "therapy-related myelodysplastic syndrome", "start": 96, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Hamartomas created a new compartment that concentrated TCDD up to 10-fold compared with serum and strongly expressed the TCDD-metabolizing enzyme cytochrome P450 1A1, thus representing a potentially significant source of enzymatic activity, which may add to the xenobiotic metabolism potential of the classical organs such as the liver.", "output": {"entities": {"gene": [{"text": "cytochrome P450 1A1", "start": 146, "end": 165}], "disease": [{"text": "Hamartomas", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cytochrome P450 1A1", "start": 146, "end": 165}, "tail": {"text": "Hamartomas", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "Mutations in the phosphatase and tensin homologue (PTEN)/phosphatidylinositol-3 kinase-alpha (PI3K) signaling pathway are frequently found in human cancer.", "output": {"entities": {"gene": [{"text": "tensin", "start": 33, "end": 39}], "disease": [{"text": "cancer", "start": 148, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "CCDC114", "start": 76, "end": 83}], "disease": [{"text": "primary ciliary dyskinesia", "start": 90, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC114", "start": 76, "end": 83}, "tail": {"text": "primary ciliary dyskinesia", "start": 90, "end": 116}}]}}, "schema": []}
{"input": "We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.", "output": {"entities": {"gene": [{"text": "CLN5", "start": 50, "end": 54}], "disease": [{"text": "vLINCL", "start": 95, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLN5", "start": 50, "end": 54}, "tail": {"text": "vLINCL", "start": 95, "end": 101}}]}}, "schema": []}
{"input": "Small interfering RNA designed to silence the CNT3 and ENT2 genes down-regulated the expression of these genes in leukemia cells.", "output": {"entities": {"gene": [{"text": "CNT3", "start": 46, "end": 50}], "disease": [{"text": "leukemia", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that in hypoxic conditions PML acts as a negative regulator of the synthesis rate of hypoxia-inducible factor 1alpha (HIF-1alpha) by repressing mammalian target of rapamycin (mTOR).", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 159, "end": 188}], "disease": [{"text": "hypoxic", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Pulmonary surfactant protein A and surfactant lipids upregulate IRAK-M, a negative regulator of TLR-mediated inflammation in human macrophages.", "output": {"entities": {"gene": [{"text": "IRAK-M", "start": 64, "end": 70}], "disease": [{"text": "inflammation", "start": 109, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.", "output": {"entities": {"gene": [{"text": "FGD4", "start": 104, "end": 108}], "disease": [{"text": "demyelination", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Higher values of IL-6 were recorded in those with idiopathic osteoporosis than in controls (2. 79 vs. 1. 43; p < 0. 05).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 17, "end": 21}], "disease": [{"text": "idiopathic osteoporosis", "start": 50, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "FGF17", "start": 148, "end": 153}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF17", "start": 148, "end": 153}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Sequence analysis of the BMP4 promoter revealed two Ets-1 binding sites, and Ets-1 activity was increased in HCC cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 52, "end": 57}], "disease": [{"text": "hypoxic", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, in cultured VSMC, Atox1 depletion with siRNA inhibits platelet-derived growth factor-induced Cu-dependent VSMC migration by preventing translocation of ATP7A and small G protein Rac1 to the leading edge, as well as Cu-and Rac1-dependent lamellipodia formation.", "output": {"entities": {"gene": [{"text": "Atox1", "start": 35, "end": 40}], "disease": [{"text": "translocation", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Rapid N-acetyltransferase 2 imputed phenotype and smoking may increase risk of colorectal cancer in women (Netherlands).", "output": {"entities": {"gene": [{"text": "N-acetyltransferase 2", "start": 6, "end": 27}], "disease": [{"text": "smoking", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In normal subjects PMN activation with both activators led to a constant increase of all PMN adhesion molecules; in DVT subjects CD11b, CD11c and CD18 increased, while CD11a expression did not show any change.", "output": {"entities": {"gene": [{"text": "CD11a", "start": 168, "end": 173}], "disease": [{"text": "adhesion", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the Ala variant of SOD2 is associated with moderately increased risk of prostate cancer, particularly among men with lower intakes of dietary and supplemental vitamin E.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 46, "end": 50}], "disease": [{"text": "prostate cancer", "start": 99, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD2", "start": 46, "end": 50}, "tail": {"text": "prostate cancer", "start": 99, "end": 114}}]}}, "schema": []}
{"input": "Gastric cancer cells transfected with pCDNA-SPRY4-IT1 were injected into nude mice to study the effect of SPRY4-IT1 on tumorigenesis and metastasis in vivo.", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 44, "end": 53}], "disease": [{"text": "tumorigenesis", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that 1) the generation of DRRs is critical for driving the release of neuropeptides antidromically from primary afferent nociceptors; 2) activation of TRPV1 receptors in primary afferent nociceptors following intradermal capsaicin injection initiates this process; 3) the released CGRP and SP participate in neurogenic inflammation.", "output": {"entities": {"gene": [{"text": "SP", "start": 307, "end": 309}], "disease": [{"text": "neurogenic inflammation", "start": 325, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP", "start": 307, "end": 309}, "tail": {"text": "neurogenic inflammation", "start": 325, "end": 348}}]}}, "schema": []}
{"input": "Cyclin E and cyclin D1 immunohistochemical expression was studied in tissue microarrays consisting of 53 BRCA1, 58 BRCA2, 798 familial non-BRCA1/2, and 439 sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 115, "end": 120}], "disease": [{"text": "sporadic", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "This missense mutation of FTL represents a new cause of genetic hyperferritinemia without iron overload.", "output": {"entities": {"gene": [{"text": "FTL", "start": 26, "end": 29}], "disease": [{"text": "genetic hyperferritinemia without iron overload", "start": 56, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FTL", "start": 26, "end": 29}, "tail": {"text": "genetic hyperferritinemia without iron overload", "start": 56, "end": 103}}]}}, "schema": []}
{"input": "In contrast to the accelerated aging defects observed in HGPS cells, the progeroid phenotype resulting from increased expression of wild-type lamin A can be rescued by overexpression of ZMPSTE24, the metalloproteinase responsible for the removal of the farnesylated carboxyl terminal region of lamin A.", "output": {"entities": {"gene": [{"text": "lamin A", "start": 142, "end": 149}], "disease": [{"text": "aging", "start": 31, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The persistent relaxant and biochemical effects of (-)-adrenaline through beta2-adrenoceptors and of (-)-noradrenaline through beta1-adrenoceptors in heart failure are inconsistent with an important role of coupling of beta2-adrenoceptors with Gialpha-protein in human atrial myocardium.", "output": {"entities": {"gene": [{"text": "beta2", "start": 74, "end": 79}], "disease": [{"text": "heart failure", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Meanwhile, microsomal CYP isoenzymatic levels and P-gp expression in small intestines were compared between normal and hepatic fibrosis rats.", "output": {"entities": {"gene": [{"text": "P-gp", "start": 50, "end": 54}], "disease": [{"text": "hepatic fibrosis", "start": 119, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Previously, we reported the association of rs659822-C/T in LAMA5, encoding the laminin-α5 chain, with weight and height in a cohort of healthy 64-107 aged Italian individuals.", "output": {"entities": {"gene": [{"text": "LAMA5", "start": 59, "end": 64}], "disease": [{"text": "height", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "DD polymorphism of the ACE gene is a significant risk factor in low-grade reflux patients with renal scarring.", "output": {"entities": {"gene": [{"text": "ACE gene", "start": 23, "end": 31}], "disease": [{"text": "reflux", "start": 74, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "qRT-PCR showed that the expression of UHRF1 mRNA in LSCC tissues was significantly higher than that in adjacent normal larynx tissues (P < 0. 001).", "output": {"entities": {"gene": [{"text": "UHRF1", "start": 38, "end": 43}], "disease": [{"text": "larynx", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In the unaffected individuals (patients' relatives and healthy controls) we observed an association of KIBRA with immediate and delayed logical memory (p = 0. 020 and 0. 025, respectively), while in patients with psychosis with delayed visual memory (p = 0. 05).", "output": {"entities": {"gene": [{"text": "KIBRA", "start": 103, "end": 108}], "disease": [{"text": "psychosis", "start": 213, "end": 222}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KIBRA", "start": 103, "end": 108}, "tail": {"text": "psychosis", "start": 213, "end": 222}}]}}, "schema": []}
{"input": "In this study, we found increased expression of miR-21 in distal small arteries in the lungs of hypoxia-exposed mice.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 48, "end": 54}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.", "output": {"entities": {"gene": [{"text": "aspartoacylase", "start": 26, "end": 40}], "disease": [{"text": "Canavan disease", "start": 53, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aspartoacylase", "start": 26, "end": 40}, "tail": {"text": "Canavan disease", "start": 53, "end": 68}}]}}, "schema": []}
{"input": "Inactivation of the two principal MMR genes, hMLH1 and hMSH2, and the PTEN tumor suppressor gene seems to be involved in endometrial tumorigenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 34, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Upon serum starvation, cell proliferation was almost abolished when the expression level of MARCKS was high, whereas it was only partially reduced in the controls.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 92, "end": 98}], "disease": [{"text": "starvation", "start": 11, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "These data identify the causal role of leukocytes in the pathogenesis of diabetic retinopathy and establish the potential utility of ICAM-1 inhibition as a therapeutic strategy for the prevention of diabetic retinopathy.", "output": {"entities": {"gene": [{"text": "ICAM-1", "start": 133, "end": 139}], "disease": [{"text": "diabetic retinopathy", "start": 73, "end": 93}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ICAM-1", "start": 133, "end": 139}, "tail": {"text": "diabetic retinopathy", "start": 73, "end": 93}}]}}, "schema": []}
{"input": "These data along with new data from computational models, genetic mouse models, and human studies have revealed a direct role for MLC-2v phosphorylation in cross-bridge cycling kinetics, calcium-dependent cardiac muscle contraction, cardiac torsion, cardiac function and various cardiac diseases.", "output": {"entities": {"gene": [{"text": "MLC", "start": 130, "end": 133}], "disease": [{"text": "cardiac diseases", "start": 279, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "Polymorphic UGT1A regulation was confirmed in adenocarcinoma samples with the additional observation of differential down-regulation of UGT1A1, UGT1A3, UGT1A6, and UGT1A10 and up-regulation of UGT1A7 mRNA.", "output": {"entities": {"gene": [{"text": "UGT1A3", "start": 144, "end": 150}], "disease": [{"text": "adenocarcinoma", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The presence of a SP1/SP3-binding element in the PR1 position is absolutely required for mild hypoxia-induced activity, and it significantly up-regulates the true hypoxic induction.", "output": {"entities": {"gene": [{"text": "SP3", "start": 22, "end": 25}], "disease": [{"text": "hypoxic", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In particular, lichen sclerosis was characterized by over expression of bone morphogenetic protein 2 and its corresponding receptor, matrix metalloproteinases 1 and 9 and tissue inhibitor of metalloproteinases 1, cytokine chemokine ligands 5 (RANTES) and interleukin 4, and transforming growth factor-β2 and its corresponding receptor.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 243, "end": 249}], "disease": [{"text": "lichen sclerosis", "start": 15, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The LPL gene S447X mutation and H-X haplotype were significantly associated with dyslipidemia (OR = 0. 547, 95% CI: 0. 348-0. 859 for S447X mutation; OR = 0. 537, 95% CI: 0. 328-0. 880 for H-X haplotype) in male, both by themselves and after adjustment for age, body mass index, smoking, alcohol intake, systolic blood pressure, diastolic blood pressure, education and serum glucose.", "output": {"entities": {"gene": [{"text": "LPL gene", "start": 4, "end": 12}], "disease": [{"text": "diastolic blood pressure", "start": 329, "end": 353}]}, "relations": {}}, "schema": []}
{"input": "DR3 + mice experienced a dramatic reduction in the extent and severity of demyelination compared with DR3-littermate controls, whereas anti-TMEV antibody titers, delayed-type hypersensitivity responses, and levels of infectious virus, virus antigen, and virus RNA were similar in both groups.", "output": {"entities": {"gene": [{"text": "DR3", "start": 0, "end": 3}], "disease": [{"text": "hypersensitivity", "start": 175, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Permutation analysis of multivariate classification functions established that the gene-expression profiles of tumors with BRCA1 mutations, tumors with BRCA2 mutations, and sporadic tumors differed significantly from each other.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 152, "end": 157}], "disease": [{"text": "sporadic", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Checkpoint kinase 2 (CHEK2, Chk2) emerges as an important signal transducer of cellular responses to DNA damage and a candidate tumor suppressor whose defects contribute to molecular pathogenesis of diverse types of human malignancies, both sporadic and hereditary.", "output": {"entities": {"gene": [{"text": "Chk2", "start": 28, "end": 32}], "disease": [{"text": "sporadic", "start": 241, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "A statistically significant effect was seen for SULT1A2 genotype on a 24DNT Hb-adduct; GSTP1 genotype on a 2, 4, 6-trinitrotoluene Hb-adduct; and SULT1A1, SULT1A2, NAT1, GSTT1, and GSTP1 genotypes on chromosomal aberrations in the exposed workers.", "output": {"entities": {"gene": [{"text": "SULT1A1", "start": 146, "end": 153}], "disease": [{"text": "chromosomal aberrations", "start": 200, "end": 223}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SULT1A1", "start": 146, "end": 153}, "tail": {"text": "chromosomal aberrations", "start": 200, "end": 223}}]}}, "schema": []}
{"input": "A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.", "output": {"entities": {"gene": [{"text": "MED12", "start": 24, "end": 29}], "disease": [{"text": "Opitz-Kaveggia syndrome", "start": 54, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MED12", "start": 24, "end": 29}, "tail": {"text": "Opitz-Kaveggia syndrome", "start": 54, "end": 77}}]}}, "schema": []}
{"input": "22 cases had CD4 < 50/mmc, among which 14 had undetectable CMV viraemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 13, "end": 16}], "disease": [{"text": "viraemia", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylation of Prx1 (Ser-32) by TOPK prevents UVB-induced apoptosis in RPMI7951 melanoma cells through regulation of Prx1 peroxidase activity and blockade of intracellular H (2) O (2) accumulation.", "output": {"entities": {"gene": [{"text": "Prx1", "start": 19, "end": 23}], "disease": [{"text": "melanoma", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "To verify the existence of an overexpression of DNMT-3a and DNMT-3b in the brain of schizophrenia patients (SZP), we compared their mRNA expression in Brodmann' s area 10 (BA10) and in the caudate nucleus and putamen obtained from the Harvard Brain Tissue Resource Center (Belmont, MA) from both nonpsychiatric subjects (NPS) and SZP.", "output": {"entities": {"gene": [{"text": "SZP", "start": 108, "end": 111}], "disease": [{"text": "schizophrenia", "start": 84, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "CD11c (iC3bR) acts as the main subunit of a heterodimer binding to fragment Bb in the apoptosis pathway, and the factor B-derived fragment Bb was found to possess the previously unknown function of inducing apoptosis in leukemic cells through a suicide mechanism of myeloid lineage cells during the differentiation stage.", "output": {"entities": {"gene": [{"text": "factor B", "start": 113, "end": 121}], "disease": [{"text": "suicide", "start": 245, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "In skin tumors but not normal skin, SIRT2 deletion up-regulates the stem cell marker CD34 and increases the number of Ki67-positive cells.", "output": {"entities": {"gene": [{"text": "SIRT2", "start": 36, "end": 41}], "disease": [{"text": "skin tumors", "start": 3, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Although the function of TTL is yet to be elucidated, our findings will provide another insight into the molecular pathogenesis of leukemia having ETV6-involving translocations.", "output": {"entities": {"gene": [{"text": "TTL", "start": 25, "end": 28}], "disease": [{"text": "leukemia", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Apoptin, a protein from chicken anemia virus (CAV) has the ability to specifically induce apoptosis only in carcinoma cells.", "output": {"entities": {"gene": [{"text": "CAV", "start": 46, "end": 49}], "disease": [{"text": "carcinoma", "start": 108, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The association of retinol binding protein-4 (RBP4) with incident type 2 diabetes (T2DM) in Asian Indian middle-aged men with impaired glucose tolerance (IGT) was studied.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 46, "end": 50}], "disease": [{"text": "impaired glucose tolerance", "start": 126, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Kp-10 caused a dose-dependent increase in oedema formation (0. 3-10 nmol/injection site), assessed by Evans Blue albumin dye extravasation, in the dorsal skin of CD1 mice.", "output": {"entities": {"gene": [{"text": "CD1", "start": 162, "end": 165}], "disease": [{"text": "oedema", "start": 42, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We showed that heparanase up-regulated the expression of the blood coagulation initiator-tissue factor (TF) and interacted with the tissue factor pathway inhibitor (TFPI) on the cell surface membrane of endothelial and tumor cells, leading to dissociation of TFPI and resulting in increased cell surface coagulation activity.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 15, "end": 25}], "disease": [{"text": "dissociation", "start": 243, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "When expressed in colon cancer cells, in which ASC is absent due to methylation, ASC was found to enhance the chemosensitivity in a p53-dependent manner.", "output": {"entities": {"gene": [{"text": "ASC", "start": 47, "end": 50}], "disease": [{"text": "colon cancer", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined pleural and ascitic effusions with a combined approach using IHC and FISH on the same cells, under the following aspects: (1) frequency of Her2/neu protein expression and gene amplification in effusions; (2) correlation between score of protein expression and gene amplification; (3) impact of chromosome 17 polyploidy on Her2/neu protein expression.", "output": {"entities": {"gene": [{"text": "FISH", "start": 96, "end": 100}], "disease": [{"text": "polyploidy", "start": 335, "end": 345}]}, "relations": {}}, "schema": []}
{"input": "In carriers, significant correlations between FVIII and APTT, VWF antigen and activity were found, whereas BMI, hs-CRP or fibrinogen did not correlate with FVIII.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 46, "end": 51}], "disease": [{"text": "fibrinogen", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that an increase in the multichaperone complex, especially the HSF1-HSP90 interaction, associated with attenuation of HSF1 translocation into the nucleus, was involved in the impairment of HS-induced HSP72 induction in the failing heart following MI.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 85, "end": 89}], "disease": [{"text": "translocation", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "We examined the functional consequences of the Q110 IL-13 variant in vitro and in vivo to determine whether it displays enhanced functional activity compared with R110 IL-13, both in the context of I50Q551 IL-4R alpha and of the atopy-associated variant V50R551 IL-4R alpha.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 52, "end": 57}], "disease": [{"text": "atopy", "start": 229, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "In two families, one with mild PSACH and the second with a form of MED, we identified different substitutions for a residue in the carboxyl-terminal globular region of COMP.", "output": {"entities": {"gene": [{"text": "COMP", "start": 168, "end": 172}], "disease": [{"text": "mild", "start": 26, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Moreover, shRNA-mediated knockdown of endogenous TDAG8 in NCI-H460 human non-small cell lung cancer cells reduced cell survival in an acidic environment in vitro as well as tumor development in vivo.", "output": {"entities": {"gene": [{"text": "TDAG8", "start": 49, "end": 54}], "disease": [{"text": "non-small cell lung cancer", "start": 73, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In metastatic animal models, cancer cells from subcutaneous tumors, malignant ascites, and peritoneal tumors responded to IFN-γ.", "output": {"entities": {"gene": [{"text": "IFN", "start": 122, "end": 125}], "disease": [{"text": "malignant ascites", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In rats with genetic hypertension, there is some recent evidence pointing to linkage of renin gene alleles with blood pressure.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 88, "end": 98}], "disease": [{"text": "blood pressure", "start": 112, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 8, "end": 12}], "disease": [{"text": "campomelic dysplasia", "start": 75, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 8, "end": 12}, "tail": {"text": "campomelic dysplasia", "start": 75, "end": 95}}]}}, "schema": []}
{"input": "Specifically, single nucleotide polymorphisms (SNPs) in two genes critical for T-cell function are associated with susceptibility to MDD: PSMB4 (proteasome beta4 subunit), important for antigen processing, and TBX21 (T bet), critical for differentiation.", "output": {"entities": {"gene": [{"text": "PSMB4", "start": 138, "end": 143}], "disease": [{"text": "MDD", "start": 133, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSMB4", "start": 138, "end": 143}, "tail": {"text": "MDD", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "EGFR and MYC gene copy number aberrations are more common in squamous cell carcinoma than keratoacanthoma: a FISH study.", "output": {"entities": {"gene": [{"text": "FISH", "start": 109, "end": 113}], "disease": [{"text": "squamous cell carcinoma", "start": 61, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In contrast, macaques inoculated with SHIV (DH12R-Clone 8) experience only partial and transient losses of CD4 + T cells, show prompt control of their viremia, and remain healthy for periods of time extending for up to 4 years.", "output": {"entities": {"gene": [{"text": "CD4", "start": 107, "end": 110}], "disease": [{"text": "viremia", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.", "output": {"entities": {"gene": [{"text": "CMTX5", "start": 122, "end": 127}], "disease": [{"text": "Rosenberg-Chutorian syndrome", "start": 53, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CMTX5", "start": 122, "end": 127}, "tail": {"text": "Rosenberg-Chutorian syndrome", "start": 53, "end": 81}}]}}, "schema": []}
{"input": "An increase in the CD28 mRNA expression was accompanied by a decrease in the CTLA-4 mRNA expression in decidual tissues from human miscarriage.", "output": {"entities": {"gene": [{"text": "CD28", "start": 19, "end": 23}], "disease": [{"text": "miscarriage", "start": 131, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "B cells have arisen as a possible player in tissue fibrosis in some experimental models and, since IL-6 produced by B cells, along with TGF-β, may induce matrix synthesis and less collagen degradation, targeting B cells could be one way to reduce ECM deposition and reduce the inflammatory background.", "output": {"entities": {"gene": [{"text": "ECM", "start": 247, "end": 250}], "disease": [{"text": "fibrosis", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we show induction of AP-1 in carcinogen-induced mouse lung tumors compared with surrounding normal lung tissue.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 43, "end": 47}], "disease": [{"text": "lung tumors", "start": 76, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AP-1", "start": 43, "end": 47}, "tail": {"text": "lung tumors", "start": 76, "end": 87}}]}}, "schema": []}
{"input": "Patients carrying ED or DD genotype had a less systolic blood pressure reduction (adjusted beta =-3. 7 + or-1. 1, P < 0. 001), a less diastolic blood pressure reduction (adjusted beta =-3. 1 + or-0. 8, P < 0. 001) and a lower percentage of reaching target blood pressure defined as SBP lower than 140 mmHg and DBP lower than 90 mmHg (adjusted OR = 0. 6, P = 0. 005) than those patients carrying EE genotype.", "output": {"entities": {"gene": [{"text": "DBP", "start": 310, "end": 313}], "disease": [{"text": "systolic blood pressure", "start": 47, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Here we utilized the adenovirus expression system to deliver PTTG1 into normal human fibroblasts to evaluate the role of PTTG1 in tumorigenesis.", "output": {"entities": {"gene": [{"text": "PTTG1", "start": 61, "end": 66}], "disease": [{"text": "adenovirus", "start": 21, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We examined the risk of incident colorectal cancer according to NAT2 genotypes, meat intake and smoking in a prospective, nested case-control study among 32, 826 women enrolled in the Nurses' Health Study who provided prediagnostic blood specimens.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 64, "end": 68}], "disease": [{"text": "smoking", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "By overexpressing the Wnt receptor, FZD-7, in colon cancer cells, we found that FZD-7 receptors expressed N-linked β (1, 6) branching, indicating that FZD-7 can be modified by GnT-V.", "output": {"entities": {"gene": [{"text": "GnT-V", "start": 176, "end": 181}], "disease": [{"text": "colon cancer", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "They were evaluated for heritable thrombophilia (factor V Leiden and factor II G20210A mutations, protein S, protein C, and antithrombin deficiency), hyperhomocystinemia, lupus anticoagulant, and anticardiolipin antibodies.", "output": {"entities": {"gene": [{"text": "factor II", "start": 69, "end": 78}], "disease": [{"text": "hyperhomocystinemia", "start": 150, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Total homocysteine (tHcy), folate, cobalamin, apo-transcobalamin (apo-TC) and apo-haptocorrin (apo-HC) were measured in the amniotic fluid of 82 women who were pregnant with a child having a complex birth defect, such as neural tube defect, cleft lip and/or palate, heart defect or omphalocele, and in 110 women pregnant with a non-malformed child.", "output": {"entities": {"gene": [{"text": "haptocorrin", "start": 82, "end": 93}], "disease": [{"text": "heart defect", "start": 266, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "A human laterality disorder associated with recessive CCDC11 mutation.", "output": {"entities": {"gene": [{"text": "CCDC11", "start": 54, "end": 60}], "disease": [{"text": "laterality", "start": 8, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Expression of the key ER stress-associated genes, including glucose-regulated protein 78 (Grp78), protein disulfide isomerase (PDI), and heat shock proteins (HSP25, HSP40, HSP70), were also suppressed by CeO2 nanoparticles.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 172, "end": 177}], "disease": [{"text": "shock", "start": 142, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Analysis of cDNA microarrays revealed that CREB silencing leads to increased expression of cysteine-rich protein 61 (CCN1/CYR61) known to mediate adhesion, chemostasis, survival, and angiogenesis.", "output": {"entities": {"gene": [{"text": "CYR61", "start": 122, "end": 127}], "disease": [{"text": "adhesion", "start": 146, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the frequencies of the G allele of IL-17A-197 G/A and TGFR-β2-875 A/G in BAVM patients with hemorrhage were higher than those without hemorrhage.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 48, "end": 54}], "disease": [{"text": "hemorrhage", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Previously, a candidate gene linkage approach on brother pairs affected with prostate cancer identified a locus of prostate cancer susceptibility at D3S1234 within the fragile histidine triad gene (FHIT), a tumor suppressor that induces apoptosis.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 198, "end": 202}], "disease": [{"text": "prostate cancer susceptibility", "start": 115, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "SEMA3F loss was associated with changes in cell signaling: increased phospho-AKT in normoxia and increase of hypoxia-induced factor 1alpha protein in hypoxia.", "output": {"entities": {"gene": [{"text": "SEMA3F", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "StuI polymorphism on the androgen receptor gene is associated with recurrent spontaneous abortion.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 25, "end": 47}], "disease": [{"text": "recurrent spontaneous abortion", "start": 67, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "The significant correlations between the CYP2D6 polymorphisms and the weight gain/BMI (body mass index) increase, as major side effects induced by antipsychotics proved the fact that the pharmacogenetic screening is needed in the future clinical practice, allowing for individualized, tailored treatment, especially for at-risk individuals.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 41, "end": 47}], "disease": [{"text": "body mass index", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "A Northern blot study was also conducted with two acute lymphocytic leukemia cases and one lymphoblastic lymphoma case with CD7 +, CD2-/+/-, CD5-/+/-phenotype and germline T cell receptor beta genes.", "output": {"entities": {"gene": [{"text": "CD2", "start": 131, "end": 134}], "disease": [{"text": "lymphoblastic lymphoma", "start": 91, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The expression of the inducible form of nitric oxide synthase (NOS2) is reduced in cystic fibrosis (CF) epithelium despite the presence of aggressive inflammation.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 63, "end": 67}], "disease": [{"text": "cystic fibrosis", "start": 83, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "As a striking example, mutations in the gene coding for antiquitin, an evolutionary old aldehyde dehydrogenase, result in pyridoxine-dependent seizures, owing to the accumulation of a metabolic intermediate that inactivates PLP.", "output": {"entities": {"gene": [{"text": "PLP", "start": 224, "end": 227}], "disease": [{"text": "pyridoxine-dependent seizures", "start": 122, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Infection of PC-3 and DU-145, the human prostate tumor cells, with Ad. dcn or a non-replicating adenovirus Ad (E1-). dcn resulted in decorin expression; Ad. dcn produced high viral titers and cytotoxicity in human prostate tumor cells.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 13, "end": 17}], "disease": [{"text": "adenovirus", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We have shown that cytotoxic T lymphocytes specific for PR1, an HLA-A2-restricted nonopeptide derived from proteinase 3, kill leukemia cells and may contribute to the elimination of chronic myelogenous leukemia (CML) after treatment with IFN or allogeneic bone marrow transplant.", "output": {"entities": {"gene": [{"text": "PR1", "start": 56, "end": 59}], "disease": [{"text": "chronic myelogenous leukemia", "start": 182, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Last, the in vivo silencing efficacy of SAMiRNAs was evaluated by targeting amphiregulin and connective tissue growth factor in bleomycin or TGF-& #946; transgenic animal models of pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "connective tissue growth factor", "start": 93, "end": 124}], "disease": [{"text": "pulmonary fibrosis", "start": 181, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "connective tissue growth factor", "start": 93, "end": 124}, "tail": {"text": "pulmonary fibrosis", "start": 181, "end": 199}}]}}, "schema": []}
{"input": "Previously this laboratory found that cyclin E is overexpressed and present in lower-molecular-weight (LMW) isoforms in breast cancer cells and tumor tissues compared to normal cells and tissues.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 38, "end": 46}], "disease": [{"text": "weight", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We phenotyped Pet-1 KO mice for fear conditioning and extinction, and on a battery of assays for anxiety-and depression-related behaviors.", "output": {"entities": {"gene": [{"text": "Pet-1", "start": 14, "end": 19}], "disease": [{"text": "depression", "start": 109, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pet-1", "start": 14, "end": 19}, "tail": {"text": "depression", "start": 109, "end": 119}}]}}, "schema": []}
{"input": "In 205 Japanese patients with BrS or IVF who tested negative for SCN5A mutation, we conducted a genetic screen for KCNE5 variants.", "output": {"entities": {"gene": [{"text": "KCNE5", "start": 115, "end": 120}], "disease": [{"text": "BrS", "start": 30, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNE5", "start": 115, "end": 120}, "tail": {"text": "BrS", "start": 30, "end": 33}}]}}, "schema": []}
{"input": "We analyzed the changes in neurological severity scores, infarct volume, number of apoptotic neurons, and the expression of G-CSF receptor, phosphorylated signal transducer and activator of transcription 3 (pSTAT3), cellular inhibitor of apoptosis protein 2 (cIAP2), Bcl-2, and Bax in the brain tissue.", "output": {"entities": {"gene": [{"text": "signal transducer and activator of transcription 3", "start": 155, "end": 205}], "disease": [{"text": "infarct", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Most importantly, influenza-A-virus-induced DNA binding of IRF1, IRF3, IRF7 and NF-kappaB onto CXCL10 ISRE and NF-kappaB elements, respectively, was markedly enhanced in cytokine-pretreated cells.", "output": {"entities": {"gene": [{"text": "IRF1", "start": 59, "end": 63}], "disease": [{"text": "influenza", "start": 18, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "with both the normalization of vaginal flora (vaginal infection disappearance) and the decrease in IL-6 cervicovaginal fluid levels in women at risk of preterm delivery.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 99, "end": 103}], "disease": [{"text": "vaginal infection", "start": 46, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Moreover, suppression of STAP-2 in K562 CML cells resulted in no tumor formation in mice.", "output": {"entities": {"gene": [{"text": "STAP-2", "start": 25, "end": 31}], "disease": [{"text": "tumor", "start": 65, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Using an adenovirus transfer vector to achieve high efficiency 23-kDa and 16-kDa PRL transfection in DU145 and PC-3 human prostate carcinoma cell lines, we demonstrated that expression of 16-kDa PRL in the prostate cancer cells markedly reduced their ability to form tumors in a xenograft animal model.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 111, "end": 115}], "disease": [{"text": "adenovirus", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "One deletion in NRXN1 and one deletion in CNTNAP2 occurred de novo, in another family the deletion was also identified in the mother who had learning difficulties, and in all other tested families one parent was shown to be healthy carrier of the respective deletion or mutation.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 42, "end": 49}], "disease": [{"text": "learning difficulties", "start": 141, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The identification of novel associations for hair morphology (rs17646946, near TCHH; rs7349332, near WNT10A; and rs1556547, near OFCC1), freckling (rs2153271, in BNC2), the ability to smell the methanethiol produced after eating asparagus (rs4481887, near OR2M7), and photic sneeze reflex (rs10427255, near ZEB2, and rs11856995, near NR2F2) illustrates the power of the approach.", "output": {"entities": {"gene": [{"text": "ZEB2", "start": 307, "end": 311}], "disease": [{"text": "photic sneeze reflex", "start": 268, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "The other four genes are transactive response-DNA binding protein-43 (TARDBP), fused in sarcoma (FUS), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B).", "output": {"entities": {"gene": [{"text": "VCP", "start": 131, "end": 134}], "disease": [{"text": "sarcoma", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.", "output": {"entities": {"gene": [{"text": "CD34", "start": 18, "end": 22}], "disease": [{"text": "major depression", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD34", "start": 18, "end": 22}, "tail": {"text": "major depression", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "Acute colitis was induced by 3. 5% dextran sulfate sodium (DSS) in drinking water for 5days and levels of cytokines and mRNA expression of TACE, TIMP-3 and SIRT-1 were measured in colon at different time intervals.", "output": {"entities": {"gene": [{"text": "SIRT-1", "start": 156, "end": 162}], "disease": [{"text": "colitis", "start": 6, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT-1", "start": 156, "end": 162}, "tail": {"text": "colitis", "start": 6, "end": 13}}]}}, "schema": []}
{"input": "The Trp64Arg polymorphism of beta (3)-adrenergic receptor (ADRB3) has been reported to be associated with insulin resistance and gestational diabetes mellitus (GDM).", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 59, "end": 64}], "disease": [{"text": "insulin resistance", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Combined use of the CD4/CD8 ratio (> 2. 5) and the CD103/CD4 ratio (< 0. 31) to assess bronchoalveolar lavage lymphocytes is a promising new tool for the diagnosis of sarcoidosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 20, "end": 23}], "disease": [{"text": "sarcoidosis", "start": 167, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We report a comparative analysis of the connections among 5-HT2CR editing, genome-wide gene expression and DNA methylation in suicide victims, individuals with major depressive disorder and non-psychiatric controls.", "output": {"entities": {"gene": [{"text": "5-HT2CR", "start": 58, "end": 65}], "disease": [{"text": "major depressive disorder", "start": 160, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2CR", "start": 58, "end": 65}, "tail": {"text": "major depressive disorder", "start": 160, "end": 185}}]}}, "schema": []}
{"input": "Using a wt-p53 recombinant adenovirus (Ad-p53), we demonstrated that exogenous wt-p53 expression was able to increase the sensitivity to BCNU in ADF cells.", "output": {"entities": {"gene": [{"text": "ADF", "start": 145, "end": 148}], "disease": [{"text": "adenovirus", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.", "output": {"entities": {"gene": [{"text": "CACNA1S", "start": 66, "end": 73}], "disease": [{"text": "hypokalemic periodic paralysis", "start": 99, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1S", "start": 66, "end": 73}, "tail": {"text": "hypokalemic periodic paralysis", "start": 99, "end": 129}}]}}, "schema": []}
{"input": "Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 63, "end": 69}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 63, "end": 69}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "It is interesting that, although the mutation site (Q90E) in this GACR patient' s OAT was within the coding sequence of the mature protein, the precursor exhibited loss of mitochondrial targeting function.", "output": {"entities": {"gene": [{"text": "OAT", "start": 82, "end": 85}], "disease": [{"text": "GACR", "start": 66, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OAT", "start": 82, "end": 85}, "tail": {"text": "GACR", "start": 66, "end": 70}}]}}, "schema": []}
{"input": "The many lives of CTIP2: from AIDS to cancer and cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "CTIP2", "start": 18, "end": 23}], "disease": [{"text": "cardiac hypertrophy", "start": 49, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Increasing numbers of individuals with cystic fibrosis are becoming infected with the multidrug-resistant non-tuberculous mycobacterium (NTM) Mycobacterium abscessus, which causes progressive lung damage and is extremely challenging to treat.", "output": {"entities": {"gene": [{"text": "NTM", "start": 137, "end": 140}], "disease": [{"text": "cystic fibrosis", "start": 39, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The phenotype in patients with mutations in both EDAR alleles was comparable to males with X-linked HED.", "output": {"entities": {"gene": [{"text": "EDAR", "start": 49, "end": 53}], "disease": [{"text": "HED", "start": 100, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDAR", "start": 49, "end": 53}, "tail": {"text": "HED", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "Experiments examining thalidomide' s enantiomers reveal-that the S (-)-enantiomer has the strongest antiangiogenic activity in VEGF-induced and bFGF-induced corneal neovascularization.", "output": {"entities": {"gene": [{"text": "bFGF", "start": 144, "end": 148}], "disease": [{"text": "corneal neovascularization", "start": 157, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bFGF", "start": 144, "end": 148}, "tail": {"text": "corneal neovascularization", "start": 157, "end": 183}}]}}, "schema": []}
{"input": "In summary, we establish POLE as a second gene in which mutations cause IMAGe syndrome.", "output": {"entities": {"gene": [{"text": "POLE", "start": 25, "end": 29}], "disease": [{"text": "IMAGe syndrome", "start": 72, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POLE", "start": 25, "end": 29}, "tail": {"text": "IMAGe syndrome", "start": 72, "end": 86}}]}}, "schema": []}
{"input": "Collectively, these observations provide new evidence demonstrating that human ASM endogenously expresses both TH1-and TH2-type cytokines and their receptors, that these molecules are sequentially upregulated in the atopic asthmatic sensitized state, and that they act to downregulate and upregulate proasthmatic perturbations in ASM responsiveness, respectively.", "output": {"entities": {"gene": [{"text": "TH1", "start": 111, "end": 114}], "disease": [{"text": "atopic", "start": 216, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Nicotinic acid receptor abnormalities in human skin cancer: implications for a role in epidermal differentiation.", "output": {"entities": {"gene": [{"text": "Nicotinic acid receptor", "start": 0, "end": 23}], "disease": [{"text": "skin cancer", "start": 47, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nicotinic acid receptor", "start": 0, "end": 23}, "tail": {"text": "skin cancer", "start": 47, "end": 58}}]}}, "schema": []}
{"input": "The present findings are consistent with the view that PTHrP can be generated in myeloma cells in vivo, and could contribute to osteolysis and hypercalcaemia, as in patients with cancer.", "output": {"entities": {"gene": [{"text": "PTHrP", "start": 55, "end": 60}], "disease": [{"text": "osteolysis", "start": 128, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTHrP", "start": 55, "end": 60}, "tail": {"text": "osteolysis", "start": 128, "end": 138}}]}}, "schema": []}
{"input": "Treatment of human astrocytoma U87 cells with silicon dioxide nanoparticles lowers their survival and alters their expression of mitochondrial and cell signaling proteins.", "output": {"entities": {"gene": [{"text": "U87", "start": 31, "end": 34}], "disease": [{"text": "astrocytoma", "start": 19, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.", "output": {"entities": {"gene": [{"text": "ATP6V0A4", "start": 19, "end": 27}], "disease": [{"text": "autosomal recessive distal renal tubular acidosis", "start": 41, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP6V0A4", "start": 19, "end": 27}, "tail": {"text": "autosomal recessive distal renal tubular acidosis", "start": 41, "end": 90}}]}}, "schema": []}
{"input": "Importantly, L1-CAM expression in patients with ccRCC was associated with significantly shorter patient survival time.", "output": {"entities": {"gene": [{"text": "L1-CAM", "start": 13, "end": 19}], "disease": [{"text": "ccRCC", "start": 48, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "L1-CAM", "start": 13, "end": 19}, "tail": {"text": "ccRCC", "start": 48, "end": 53}}]}}, "schema": []}
{"input": "Q (2) ChIP of the transcription factor Oct4 demonstrates its dissociation from the NANOG promoter upon differentiation.", "output": {"entities": {"gene": [{"text": "NANOG", "start": 83, "end": 88}], "disease": [{"text": "dissociation", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The HHLs had significantly higher systolic blood pressure (SBP), diastolic blood pressure (DBP) (P < 0. 0001), body mass index (BMI) (P = 0. 0002), plasma aldosterone levels (P = 0. 03) and aldosterone to plasma renin ratio (ARR) (P < 0. 0001) and lower plasma renin activity (PRA) (P = 0. 007).", "output": {"entities": {"gene": [{"text": "DBP", "start": 91, "end": 94}], "disease": [{"text": "systolic blood pressure", "start": 34, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Using the in silico data mining approach, we identified elevated expression of five genes located at the 12q24. 31 amplicon in neuroblastoma (DIABLO, ZCCHC8, RSRC2, KNTC1 and MPHOSPH9).", "output": {"entities": {"gene": [{"text": "RSRC2", "start": 158, "end": 163}], "disease": [{"text": "neuroblastoma", "start": 127, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "One of the rare CNVs found in SZ cohorts is the duplication of Synaptic Scaffolding Molecule (S-SCAM, also called MAGI-2), which encodes a postsynaptic scaffolding protein controlling synaptic AMPA receptor levels, and thus the strength of excitatory synaptic transmission.", "output": {"entities": {"gene": [{"text": "MAGI-2", "start": 114, "end": 120}], "disease": [{"text": "SZ", "start": 30, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAGI-2", "start": 114, "end": 120}, "tail": {"text": "SZ", "start": 30, "end": 32}}]}}, "schema": []}
{"input": "This study was designed to investigate the effects of bezafibrate as a PPARalpha agonist on human embryo rhabdomyosarcoma (RD) cells and possible mechanisms responsible for bezafibrate-mediated myopathy.", "output": {"entities": {"gene": [{"text": "PPARalpha", "start": 71, "end": 80}], "disease": [{"text": "myopathy", "start": 194, "end": 202}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPARalpha", "start": 71, "end": 80}, "tail": {"text": "myopathy", "start": 194, "end": 202}}]}}, "schema": []}
{"input": "The risk conferred by 1858T allele on GAD positivity was additive, and our meta-analysis also supported an additive rather than dominant effect of this variant on type 1 diabetes, similar to previous reports on rheumatoid arthritis and systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "GAD", "start": 38, "end": 41}], "disease": [{"text": "rheumatoid arthritis", "start": 211, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Transfection of precursor miR-199a-3p into ovarian cancer cells reduced c-Met expression and inhibited the phosphorylation of c-Met, extracellular signal-regulated kinase, and AKT; in addition, proliferation, adhesion, and invasiveness were inhibited.", "output": {"entities": {"gene": [{"text": "AKT", "start": 176, "end": 179}], "disease": [{"text": "adhesion", "start": 209, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "On the basis of this knowledge, we demonstrate how the loss of RASSF1A function in medulloblastoma cells might be overcome using the novel BH3-only mimetic ABT-737 in combination with chemotherapeutic agents to target the BCL-2 anti-apoptotic members.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 63, "end": 70}], "disease": [{"text": "medulloblastoma", "start": 83, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RASSF1A", "start": 63, "end": 70}, "tail": {"text": "medulloblastoma", "start": 83, "end": 98}}]}}, "schema": []}
{"input": "Taken together, our data indicate that hnRNPC controls the aggressiveness of GBM cells through the regulation of PDCD4, underscoring the potential usefulness of hnRNPC as a prognostic and therapeutic marker of GBM.", "output": {"entities": {"gene": [{"text": "PDCD4", "start": 113, "end": 118}], "disease": [{"text": "aggressiveness", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Two HLA supratypes seem to mark different age of onset of vitiligo: HLA-BfS, C4A3, C4B1, DR5 (W11), DQW3 is characteristic of the pediatric form; while HLA-BfS, C4A3, C4B1, DR7, DQW2 marks the adult form of disease.", "output": {"entities": {"gene": [{"text": "C4A3", "start": 77, "end": 81}], "disease": [{"text": "vitiligo", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the EVER1 and EVER2 genes cause epidermodysplasia verruciformis (EV), a genodermatosis associated with squamous cell carcinoma (SCC).", "output": {"entities": {"gene": [{"text": "EVER1", "start": 17, "end": 22}], "disease": [{"text": "genodermatosis", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 113, "end": 117}], "disease": [{"text": "AIP", "start": 84, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 113, "end": 117}, "tail": {"text": "AIP", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "We found increased expression of HIF-1 & #945; and HIF-1 & #946; mRNA, as well as the target genes, VEGF, and PFKFB3 in both MDD and BPD patients in a depressive state compared to healthy control subjects.", "output": {"entities": {"gene": [{"text": "PFKFB3", "start": 110, "end": 116}], "disease": [{"text": "MDD", "start": 125, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PFKFB3", "start": 110, "end": 116}, "tail": {"text": "MDD", "start": 125, "end": 128}}]}}, "schema": []}
{"input": "Expression of podoplanin is a rare event in sporadic gastrointestinal stromal tumors and does not influence prognosis.", "output": {"entities": {"gene": [{"text": "podoplanin", "start": 14, "end": 24}], "disease": [{"text": "sporadic", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Asic3 (-/-) mice showed normal baseline heart rate and lower blood pressure as compared with their wild-type littermates.", "output": {"entities": {"gene": [{"text": "Asic3", "start": 0, "end": 5}], "disease": [{"text": "heart rate", "start": 40, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "No association was found with the two SNPs (rs4282438 or rs9277952) that were recently identified within the HLA-DP region in a cervical cancer GWAS in the Chinese population.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 109, "end": 115}], "disease": [{"text": "cervical cancer", "start": 128, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 42, "end": 46}], "disease": [{"text": "campomelic dysplasia", "start": 86, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOX9", "start": 42, "end": 46}, "tail": {"text": "campomelic dysplasia", "start": 86, "end": 106}}]}}, "schema": []}
{"input": "However, functional assays of non-neoplastic patient-derived cells showed intact base-base MMR function.", "output": {"entities": {"gene": [{"text": "MMR", "start": 91, "end": 94}], "disease": [{"text": "non-neoplastic", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Stimulation of 5-HT2C receptors improves cognitive deficits induced by human tryptophan hydroxylase 2 loss of function mutation.", "output": {"entities": {"gene": [{"text": "tryptophan hydroxylase 2", "start": 77, "end": 101}], "disease": [{"text": "cognitive deficits", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 11, "end": 16}], "disease": [{"text": "Farber disease", "start": 35, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASAH1", "start": 11, "end": 16}, "tail": {"text": "Farber disease", "start": 35, "end": 49}}]}}, "schema": []}
{"input": "Most researchers believe that the peroxisome proliferative activated receptor gamma (PPARgamma-2) and bone morphogenetic protein receptor type II (BMPR2) play important roles in steroid-induced osteonecrosis (ON).", "output": {"entities": {"gene": [{"text": "BMPR2", "start": 147, "end": 152}], "disease": [{"text": "osteonecrosis", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Liver X receptor-α (LXRA) is a nuclear receptor that regulates genes important in cholesterol homeostasis and inflammation.", "output": {"entities": {"gene": [{"text": "LXRA", "start": 20, "end": 24}], "disease": [{"text": "inflammation", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We also noticed greater expression of LEP and LEPR in T1DM pregnancies with large for gestational age (LGA) and appropriate for gestational age (AGA) fetuses in comparison to small for gestational age (SGA) diabetic fetuses and controls.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 46, "end": 50}], "disease": [{"text": "small for gestational age", "start": 175, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "This effect was mediated by specific binding of NGF to its receptor trk A, which was detected on all pancreatic cancer cells, with subsequent activation of the p44/42 MAPK signaling pathway.", "output": {"entities": {"gene": [{"text": "p44", "start": 160, "end": 163}], "disease": [{"text": "pancreatic cancer", "start": 101, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The mitogen-activated protein kinase kinase 1 and 2 signaling pathway is a major component of the RAS (Rat sarcoma)/RAF (Radpidly accelerated fibrosarcoma)/MEK (mitogen-activated protein kinase kinase)/ERKs (Extracellular signal-regulated kinases) signaling axis that regulates tumorigenesis and cancer cell growth.", "output": {"entities": {"gene": [{"text": "mitogen-activated protein kinase kinase 1", "start": 4, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 278, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "The production of TNF-alpha and nuclear-translocation of nuclear factor kappa B (NF-kappa B) was determined.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 18, "end": 27}], "disease": [{"text": "translocation", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.", "output": {"entities": {"gene": [{"text": "PIK3R1", "start": 102, "end": 108}], "disease": [{"text": "Burkitt lymphomas", "start": 56, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3R1", "start": 102, "end": 108}, "tail": {"text": "Burkitt lymphomas", "start": 56, "end": 73}}]}}, "schema": []}
{"input": "The weaker expression of Smad1 and no expression of Smad5 may be one of the pathological mechanisms of infertility with adenine-modeled kidney-yang deficiency.", "output": {"entities": {"gene": [{"text": "Smad5", "start": 52, "end": 57}], "disease": [{"text": "infertility", "start": 103, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Expression of the HER-2/neu oncogene has been suggested to confer added virulence or aggressive behavior in gynecologic malignancies.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 18, "end": 27}], "disease": [{"text": "aggressive behavior", "start": 85, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "This is the first patient with ARSACS that carries a de novo chromosomal deletion comprising SACS.", "output": {"entities": {"gene": [{"text": "SACS", "start": 33, "end": 37}], "disease": [{"text": "ARSACS", "start": 31, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SACS", "start": 33, "end": 37}, "tail": {"text": "ARSACS", "start": 31, "end": 37}}]}}, "schema": []}
{"input": "Glyoxylase 1 (GLO1) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between depression and anxiety.", "output": {"entities": {"gene": [{"text": "GNB1", "start": 62, "end": 66}], "disease": [{"text": "depression", "start": 183, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNB1", "start": 62, "end": 66}, "tail": {"text": "depression", "start": 183, "end": 193}}]}}, "schema": []}
{"input": "On the basis of these data, we hypothesized that, in the P-1 trial, a lower level of ESR1 mRNA in the tamoxifen arm was the main difference between the two study arms.", "output": {"entities": {"gene": [{"text": "ESR1", "start": 85, "end": 89}], "disease": [{"text": "arms", "start": 162, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Additionally, correlations between SHBG levels and SNP genotype, body mass index, non-SHBG-bound testosterone, and insulin resistance estimated by the homeostasis model were determined.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 35, "end": 39}], "disease": [{"text": "insulin resistance", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The results, using Ba/F3 cell proliferation assay, acute-phase protein (haptoglobin) induction analysis in HepG2 human hepatoma cells, a porcine cartilage glycosaminoglycan release assessment for proteoglycan degradation, and a collagen release assay, show that these antagonists inhibit relevant LIF, OSM, and other IL-6 subfamily cytokines in vitro albeit with differential potencies and have, therefore, therapeutic potential for treatment of RA and perhaps other diseases.", "output": {"entities": {"gene": [{"text": "OSM", "start": 302, "end": 305}], "disease": [{"text": "hepatoma", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "In contrast,' buffalo hump' showed a higher expression of the cell proliferation marker PCNA.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 88, "end": 92}], "disease": [{"text": "buffalo hump", "start": 14, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Arg16Gly, a functional polymorphism in the beta2-AR gene, has been reported to influence exercise capacity in heart failure patients.", "output": {"entities": {"gene": [{"text": "beta2", "start": 43, "end": 48}], "disease": [{"text": "heart failure", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "CGH analysis indicated chromosomal instability in both early (stages I/II) and advanced (stages III/IV) stage tumors, with common gains on 1q, 8q and 17q23-q25, and losses on 4q22-q35, 8p21-p22, 13q14-q21, 16q and 17p identified in both groups (P > 0. 05).", "output": {"entities": {"gene": [{"text": "p22", "start": 190, "end": 193}], "disease": [{"text": "chromosomal instability", "start": 23, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 25, "end": 29}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 38, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 25, "end": 29}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 38, "end": 73}}]}}, "schema": []}
{"input": "Fgfr1 deficiency conferred resistance to the proteoglycan loss induced by AIA and attenuated the development of cartilage destruction after surgically induced destabilization of the knee joint.", "output": {"entities": {"gene": [{"text": "Fgfr1", "start": 0, "end": 5}], "disease": [{"text": "cartilage destruction", "start": 112, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Molecular interactions among FA proteins and responsible proteins for other chromosome instability syndromes (BLM, NBS1, MRE11, ATM, and ATR) have also been found.", "output": {"entities": {"gene": [{"text": "NBS1", "start": 115, "end": 119}], "disease": [{"text": "chromosome instability syndromes", "start": 76, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.", "output": {"entities": {"gene": [{"text": "MiR-21", "start": 69, "end": 75}], "disease": [{"text": "Obese", "start": 0, "end": 5}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MiR-21", "start": 69, "end": 75}, "tail": {"text": "Obese", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "We have investigated the impact of high levels of C5a on the adrenal medulla following cecal ligation and puncture (CLP)-induced sepsis in rats as well as the role of C5a on catecholamine production from pheochromocytoma-derived PC12 cells.", "output": {"entities": {"gene": [{"text": "C5a", "start": 50, "end": 53}], "disease": [{"text": "pheochromocytoma", "start": 204, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Though FAD is rare (< 10% of all AD), the hallmark features--amyloid plaques, neurofibrillary tangles, synaptic and neuronal loss, neurotransmitter deficits, dementia--are indistinguishable when FAD is compared with typical, common,' non-familial', or sporadic AD (SAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 7, "end": 10}], "disease": [{"text": "sporadic", "start": 252, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the VHL gene is only rarely mutated in thoracic malignancies.", "output": {"entities": {"gene": [{"text": "VHL gene", "start": 31, "end": 39}], "disease": [{"text": "thoracic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have shown that 11q23-positive acute leukemia cells express the high molecular weight-melanoma associated antigen (HMW-MAA).", "output": {"entities": {"gene": [{"text": "HMW-MAA", "start": 130, "end": 137}], "disease": [{"text": "acute leukemia", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "A total of 193 non-psychotic males (117 methamphetamine-dependent and 76 controls) were genotyped for variants located in six genes (AKT1, ARRB2, BDNF, COMT, GSTP1, OPRM1).", "output": {"entities": {"gene": [{"text": "ARRB2", "start": 139, "end": 144}], "disease": [{"text": "psychotic", "start": 19, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "A SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia.", "output": {"entities": {"gene": [{"text": "SMARCE1", "start": 2, "end": 9}], "disease": [{"text": "nail hypoplasia", "start": 93, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Cyclooxygenase (COX) inhibition may ameliorate polyp development, but rofecoxib was withdrawn due to cardiovascular side effects.", "output": {"entities": {"gene": [{"text": "COX", "start": 16, "end": 19}], "disease": [{"text": "polyp", "start": 47, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The Hsp90 cochaperone FK506 binding protein 5 (FKBP5) is an established regulator of the glucocorticoid receptor (GR), and numerous genetic studies have linked it to stress-related diseases such as major depression or posttraumatic stress disorder.", "output": {"entities": {"gene": [{"text": "Hsp90", "start": 4, "end": 9}], "disease": [{"text": "major depression", "start": 198, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hsp90", "start": 4, "end": 9}, "tail": {"text": "major depression", "start": 198, "end": 214}}]}}, "schema": []}
{"input": "Under basal conditions, rats exposed to perinatal malnutrition showed reduced body weight, enhanced mineralocorticoid receptor (MR) mRNA levels in CA2 and CA3 hippocampal areas, but decreased glucocorticoid receptor (GR) mRNA levels in CA1, CA3 and dentate gyrus (DG) areas.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 192, "end": 215}], "disease": [{"text": "body weight", "start": 78, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Several studies have confirmed that OPG (osteoprotegerin) and RANKL (ligand of the receptor activator of nuclear factor-κβ) loci are determinants of bone mineral density (BMD) in the general population.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 62, "end": 67}], "disease": [{"text": "bone mineral density", "start": 149, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "We report here a novel heterozygous 605G--> T mutation in GJB2 in all affected members of a large family with late childhood onset of autosomal dominant isolated hearing loss.", "output": {"entities": {"gene": [{"text": "GJB2", "start": 58, "end": 62}], "disease": [{"text": "childhood onset", "start": 115, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "IL-6 plays a central role in supporting pathological T (H2) and T (H17) cell development and inhibiting the protective T regulatory cells in allergic asthma.", "output": {"entities": {"gene": [{"text": "H17", "start": 67, "end": 70}], "disease": [{"text": "allergic asthma", "start": 141, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Membrane translocation of the p67 (phox) subunit of cardiac NADPH oxidase 2 (NOX2) was markedly increased in G4H (-/-) mice, suggesting elevated activity.", "output": {"entities": {"gene": [{"text": "NOX2", "start": 77, "end": 81}], "disease": [{"text": "translocation", "start": 9, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "KCNJ11 E23K polymorphism is not associated with increased risk of mild hypoglycemia in sulfonylurea-treated T2DM patients.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 0, "end": 6}], "disease": [{"text": "mild", "start": 66, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "T cell lines derived in low concentrations of recombinant IL-2 (rIL-2) from TIL of patients with epithelial ovarian carcinoma (EOC) often exhibit specific cytotoxicity against autologous tumour cells.", "output": {"entities": {"gene": [{"text": "TIL", "start": 76, "end": 79}], "disease": [{"text": "epithelial ovarian carcinoma", "start": 97, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Further analyses evidenced independent and additive effects of CTTN and MYLK risk variants for severe asthma susceptibility in African Americans (accumulated OR: 2. 93, 95% CI: 1. 40-6. 13, p = 0. 004).", "output": {"entities": {"gene": [{"text": "MYLK", "start": 72, "end": 76}], "disease": [{"text": "asthma susceptibility", "start": 102, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Group-A xeroderma pigmentosum (XPA) gene-deficient mice are defective in nucleotide-excision repair and highly susceptible to ultraviolet-B-, and 9, 10-dimethyl-1, 2-benz [a] anthracene (DMBA)-induced skin carcinogenesis.", "output": {"entities": {"gene": [{"text": "XPA", "start": 31, "end": 34}], "disease": [{"text": "skin carcinogenesis", "start": 201, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "In all 3 lines and tumors, the ES characteristic reciprocal translocation (11; 22), as well as the presence of the ES-associated p30/32MIC2 antigen, were documented.", "output": {"entities": {"gene": [{"text": "p30", "start": 129, "end": 132}], "disease": [{"text": "tumors", "start": 19, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Transforming growth factor beta3 transcripts were increased 4-fold in leiomyoma versus matched myometrium.", "output": {"entities": {"gene": [{"text": "beta3", "start": 27, "end": 32}], "disease": [{"text": "leiomyoma", "start": 70, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Heparanase and vascular endothelial growth factor expression is increased in hypoxia-induced retinal neovascularization.", "output": {"entities": {"gene": [{"text": "Heparanase", "start": 0, "end": 10}], "disease": [{"text": "hypoxia", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Using recombinant adenovirus Adref-1, encoding full-length Ref-1, we transiently overexpressed APE/Ref-1 in human melanocytes, which protected these cells from UVB-induced apoptosis and increased foci formation in culture.", "output": {"entities": {"gene": [{"text": "Ref-1", "start": 59, "end": 64}], "disease": [{"text": "adenovirus", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the impact of secondary genetic lesions in acute myeloid leukemia (AML) with inv (16) (p13. 1q22) or t (16; 16) (p13. 1; q22); CBFB-MYH11.", "output": {"entities": {"gene": [{"text": "CBFB", "start": 155, "end": 159}], "disease": [{"text": "secondary", "start": 42, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data suggest that miR-345 exerts a suppressive effect on prostate cancer proliferation, invasion and migration through downregulation of Smad1.", "output": {"entities": {"gene": [{"text": "Smad1", "start": 157, "end": 162}], "disease": [{"text": "prostate cancer", "start": 77, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "New germline mutations of the p53 gene are rare among patients with \" sporadic \" sarcoma but may be common in patients with sarcoma whose background includes either multiple primary cancers or a family history of cancer.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 30, "end": 38}], "disease": [{"text": "sporadic", "start": 70, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.", "output": {"entities": {"gene": [{"text": "TMEM18", "start": 22, "end": 28}], "disease": [{"text": "body mass index", "start": 49, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "However, in normal glucose tolerant subjects, plasma chemerin levels were significantly associated with body mass index, circulating triglycerides, and blood pressure.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 53, "end": 61}], "disease": [{"text": "blood pressure", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Using highly effective CD20 mAbs that efficiently deplete endogenous mature B cells and homologous CD20 + primary lymphoma cells through monocyte-and antibody-dependent mechanisms, we found that lymphoma depletion and survival were reduced when endogenous host B cells were not depleted, particularly a rare IL-10-producing B cell subset (B10 cells) known to regulate inflammation and autoimmunity.", "output": {"entities": {"gene": [{"text": "B10", "start": 339, "end": 342}], "disease": [{"text": "autoimmunity", "start": 385, "end": 397}]}, "relations": {}}, "schema": []}
{"input": "We further investigated the interaction of ADD1-rs4963 with smoking or drinking exposure, but found no significant result.", "output": {"entities": {"gene": [{"text": "ADD1", "start": 43, "end": 47}], "disease": [{"text": "drinking", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Clinical sample analyses indicated that osteopontin, LAMB3 and ITGB1 protein expression levels were higher in lung cancer patients, compared to non-cancerous adjacent tissues, and correlated with lymphatic metastasis.", "output": {"entities": {"gene": [{"text": "LAMB3", "start": 53, "end": 58}], "disease": [{"text": "lymphatic metastasis", "start": 196, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "However, three deletions affecting the same chromosome region and a familial translocation t (8; 13) co-segregating with TRPS, which do not encompass or disrupt the TRPS1 gene, have been reported.", "output": {"entities": {"gene": [{"text": "TRPS1 gene", "start": 165, "end": 175}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrated that Ars2 knockdown significantly repressed the proliferation and tumorigenesis abilities of glioblastoma cells in & #160; vitro and in vivo.", "output": {"entities": {"gene": [{"text": "Ars2", "start": 27, "end": 31}], "disease": [{"text": "glioblastoma", "start": 115, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ars2", "start": 27, "end": 31}, "tail": {"text": "glioblastoma", "start": 115, "end": 127}}]}}, "schema": []}
{"input": "Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma.", "output": {"entities": {"gene": [{"text": "DDX3X", "start": 49, "end": 54}], "disease": [{"text": "T-cell lymphoma", "start": 73, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DDX3X", "start": 49, "end": 54}, "tail": {"text": "T-cell lymphoma", "start": 73, "end": 88}}]}}, "schema": []}
{"input": "The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.", "output": {"entities": {"gene": [{"text": "amphiregulin", "start": 246, "end": 258}], "disease": [{"text": "gastric cancer", "start": 325, "end": 339}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "amphiregulin", "start": 246, "end": 258}, "tail": {"text": "gastric cancer", "start": 325, "end": 339}}]}}, "schema": []}
{"input": "t (6; 9) leukemia is an unusual type of AML that is associated with poor prognosis, early age of onset, basophilia, myelodysplasia with frequent ringed sideroblasts, and a CD34-negative initial phenotype.", "output": {"entities": {"gene": [{"text": "CD34", "start": 172, "end": 176}], "disease": [{"text": "basophilia", "start": 104, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Although somatic mutations of p53 are the most common genetic changes observed to date, the frequency of germline p53 mutations is found to be very low in sporadic malignant tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 30, "end": 33}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of four DRD5 polymorphisms with smoking initiation and progression to nicotine dependence in a population-based sample of over 900 subjects.", "output": {"entities": {"gene": [{"text": "DRD5", "start": 40, "end": 44}], "disease": [{"text": "smoking", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Since a recent study suggested that both EPO and Klotho mitigate kidney damage, we explored the relation between EPO and Klotho in a doxorubicin hydrochloride (DXR)-induced rat nephropathy model treated with recombinant human erythropoietin (rhEPO).", "output": {"entities": {"gene": [{"text": "EPO", "start": 41, "end": 44}], "disease": [{"text": "nephropathy", "start": 177, "end": 188}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "EPO", "start": 41, "end": 44}, "tail": {"text": "nephropathy", "start": 177, "end": 188}}]}}, "schema": []}
{"input": "The nucleotide sequence of the 5' flanking region, which contains regions of DNase hypersensitivity and binding sites for putative regulatory proteins, is the same as that of the normal MYC.", "output": {"entities": {"gene": [{"text": "MYC", "start": 186, "end": 189}], "disease": [{"text": "hypersensitivity", "start": 83, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Clinical Relevance The combination of night blindness, hyperopia, and clumped retinal pigment deposits should raise the suspicion that a patient has NR2E3 disease.", "output": {"entities": {"gene": [{"text": "NR2E3", "start": 149, "end": 154}], "disease": [{"text": "hyperopia", "start": 55, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Treatment of SW480 tumors implanted in Rag (-/-) common gamma chain (-/-) C57BL/6 mice with peritumorally applied TIMP-1-GPI, control rhTIMP-1 protein, or vehicle shows that TIMP-1-GPI leads to a significant reduction in tumor growth.", "output": {"entities": {"gene": [{"text": "GPI", "start": 121, "end": 124}], "disease": [{"text": "tumors", "start": 19, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "We report the results of a study looking at the association between risk of gastric adenocarcinoma and polymorphisms in genes CYP1A1, CYP1A2, EPHX1, and GSTT1.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 134, "end": 140}], "disease": [{"text": "gastric adenocarcinoma", "start": 76, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "TNF-& #945; treatment of primary human lung epithelia and A549 cells induced ZIP8 expression, resulting in significantly higher cell death attributable to both apoptosis and necrosis following Cd exposure.", "output": {"entities": {"gene": [{"text": "TNF", "start": 0, "end": 3}], "disease": [{"text": "necrosis", "start": 174, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 0, "end": 3}, "tail": {"text": "necrosis", "start": 174, "end": 182}}]}}, "schema": []}
{"input": "Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.", "output": {"entities": {"gene": [{"text": "GPIIIa", "start": 13, "end": 19}], "disease": [{"text": "Glanzmann thrombasthenia", "start": 44, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIIIa", "start": 13, "end": 19}, "tail": {"text": "Glanzmann thrombasthenia", "start": 44, "end": 68}}]}}, "schema": []}
{"input": "Astrocytes in the CA1 region of the hippocampus progressively depolarized starting 3 days after ischemia, which coincided with decreased Kir4. 1 protein expression in the gliotic tissue.", "output": {"entities": {"gene": [{"text": "CA1", "start": 18, "end": 21}], "disease": [{"text": "ischemia", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas.", "output": {"entities": {"gene": [{"text": "PARG1", "start": 24, "end": 29}], "disease": [{"text": "mantle-cell lymphomas", "start": 74, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARG1", "start": 24, "end": 29}, "tail": {"text": "mantle-cell lymphomas", "start": 74, "end": 95}}]}}, "schema": []}
{"input": "We conducted a nested case-control study to investigate the association between NAT2 genotype, smoking and breast cancer risk among women (110 cases, 113 matched controls) from the CLUE II cohort in Washington County, MD.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 80, "end": 84}], "disease": [{"text": "smoking", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "This review will also discuss a possible role of CUGBP1 in liver dysfunction in patients affected with DM1.", "output": {"entities": {"gene": [{"text": "CUGBP1", "start": 49, "end": 55}], "disease": [{"text": "liver dysfunction", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In diabetic rats, plasma glucose, HbA1c, MDA, fibrinogen, FVII, FDP, PAI-1, and platelet aggregation increased while insulin, PT, aPTT, coagulation time, protein C, ATIII, and antioxidants decreased.", "output": {"entities": {"gene": [{"text": "ATIII", "start": 165, "end": 170}], "disease": [{"text": "fibrinogen", "start": 46, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Twelve non-smoking UK Caucasian patients with AgP were selected based on their IL6 haplotypes (six haplotype positive and six haplotype negative based on polymorphisms rs 2069827 and rs 2069825) and underwent full mouth non-surgical periodontal therapy, followed by open flap surgery.", "output": {"entities": {"gene": [{"text": "IL6", "start": 79, "end": 82}], "disease": [{"text": "smoking", "start": 11, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "In this study, we aimed to investigate a possible association between mutations in the Irx4 gene and hypertrophic cardiomyopathy (HC).", "output": {"entities": {"gene": [{"text": "Irx4 gene", "start": 87, "end": 96}], "disease": [{"text": "hypertrophic cardiomyopathy", "start": 101, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.", "output": {"entities": {"gene": [{"text": "SPINK5", "start": 13, "end": 19}], "disease": [{"text": "Netherton syndrome", "start": 65, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPINK5", "start": 13, "end": 19}, "tail": {"text": "Netherton syndrome", "start": 65, "end": 83}}]}}, "schema": []}
{"input": "Gain-of-function mutations in STAT1 predispose to invasive, severe, disseminated dimorphic yeast infections, likely through aberrant regulation of IFN-γ-mediated inflammation.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 30, "end": 35}], "disease": [{"text": "inflammation", "start": 162, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 60, "end": 66}], "disease": [{"text": "spondyloperipheral dysplasia", "start": 92, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 60, "end": 66}, "tail": {"text": "spondyloperipheral dysplasia", "start": 92, "end": 120}}]}}, "schema": []}
{"input": "This result suggests that the MAOB gene may be associated with PD in Chinese if the putative protective effect of tea drinking is taken into account.", "output": {"entities": {"gene": [{"text": "MAOB gene", "start": 30, "end": 39}], "disease": [{"text": "drinking", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Analysis of DAZ deletion copies in infertile men revealed 10 gr/gr-DAZ1/DAZ2 deletions, 1 gr/gr-DAZ3/DAZ4 deletion (10/186 vs. 1/186, p = 0. 011) and 3 b2/b3-DAZ1/DAZ2 deletions (13/186 vs. 1/186, p = 0. 002).", "output": {"entities": {"gene": [{"text": "DAZ1", "start": 67, "end": 71}], "disease": [{"text": "infertile", "start": 35, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems.", "output": {"entities": {"gene": [{"text": "CMS", "start": 37, "end": 40}], "disease": [{"text": "congenital muscular dystrophy", "start": 143, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Serum RBP4 correlated positively with adipose RBP4 mRNA and intra-abdominal fat mass and inversely with insulin sensitivity, independently of age, gender, and body mass index.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 6, "end": 10}], "disease": [{"text": "insulin sensitivity", "start": 104, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Such defects were more frequent among the ER/PR/ERBB2 triple-negative and higher-grade tumours, among familial (especially BRCA1/BRCA2-associated) rather than sporadic cases, and the NBS1 defects correlated with shorter patients' survival.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 129, "end": 134}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the role of the BMP7-Smad4-Id2 signaling pathway in SW480 colorectal carcinoma cells.", "output": {"entities": {"gene": [{"text": "Id2", "start": 39, "end": 42}], "disease": [{"text": "colorectal carcinoma", "start": 70, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Among postmenopausal women, ORs for smoking within the past 3 years were greater for women with the NAT1 * 10 genotype (OR, 9. 0; 95% CI, 1. 9-41. 8) than NAT1-non * 10 (OR, 2. 5; 95% CI, 0. 9-7. 2) and greater for NAT2-rapid genotype (OR, 7. 4; 95% CI, 1. 6-32. 6) than NAT2-slow (OR, 2. 8; 95% CI, 0. 4-8. 0).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 215, "end": 219}], "disease": [{"text": "smoking", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "A novel congenital dysprothrombinemia leading to defective prothrombin maturation.", "output": {"entities": {"gene": [{"text": "prothrombin", "start": 22, "end": 33}], "disease": [{"text": "dysprothrombinemia", "start": 19, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "prothrombin", "start": 22, "end": 33}, "tail": {"text": "dysprothrombinemia", "start": 19, "end": 37}}]}}, "schema": []}
{"input": "Direct visualization of the gamma secretase-generated carboxyl-terminal domain of the amyloid precursor protein: association with Fe65 and translocation to the nucleus.", "output": {"entities": {"gene": [{"text": "Fe65", "start": 130, "end": 134}], "disease": [{"text": "translocation", "start": 139, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest a valuable diagnostic impact of CTGF in serum for the follow-up of patients suffering from chronic liver diseases developing fibrosis, cirrhosis and finally HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 174, "end": 177}], "disease": [{"text": "fibrosis", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "In PROKR2, four distinct mutations (p. R80C, p. Y140X, p. L173R, and p. R268C) were identified in five patients with Kallmann syndrome and in one patient with normosmic HH.", "output": {"entities": {"gene": [{"text": "PROKR2", "start": 3, "end": 9}], "disease": [{"text": "Kallmann syndrome", "start": 117, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PROKR2", "start": 3, "end": 9}, "tail": {"text": "Kallmann syndrome", "start": 117, "end": 134}}]}}, "schema": []}
{"input": "To define the roles of the calmodulin-stimulated adenylyl cyclases (AC1 and AC8) in morphine-induced analgesia, tolerance, physical dependence, and conditioned place preference, we used mice having targeted disruptions of either the AC1 or AC8 genes or both genes [double knockout mice (DKO)].", "output": {"entities": {"gene": [{"text": "AC1", "start": 68, "end": 71}], "disease": [{"text": "physical dependence", "start": 123, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The level of adhesion molecules [intercellular cytoadhesion molecule-1 (ICAM-1), E-selectin, P-selectin], von Willebrand s factor (vWf) and endothelin-1 were assessed in patients with mild essential hypertension without further cardiovascular risk factors or clinical manifestations of atherosclerosis before and after quinapril treatment (n = 25) and compared with normotensive controls (n = 29).", "output": {"entities": {"gene": [{"text": "E-selectin", "start": 81, "end": 91}], "disease": [{"text": "mild", "start": 184, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Cirrhotic nodule (CN) is now regarded as a preneoplastic lesion that is frequently associated with microscopic foci of HCC through dysplastic nodules (DNs).", "output": {"entities": {"gene": [{"text": "HCC", "start": 119, "end": 122}], "disease": [{"text": "nodule", "start": 10, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to prospectively screen subjects with fibrous dysplasia for endocrine disease and G (s) alpha gene (GNAS1)-activating mutations.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 106, "end": 116}], "disease": [{"text": "fibrous dysplasia", "start": 56, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The deletions usually involve whole chromosome arms, suggesting a t (1; 19) (q10; p10).", "output": {"entities": {"gene": [{"text": "p10", "start": 82, "end": 85}], "disease": [{"text": "arms", "start": 47, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To determine carrier frequency of CRTR-D in the general population we studied the variants in the SLC6A8 gene reported in the Exome Variant Server database and performed functional characterization of missense variants.", "output": {"entities": {"gene": [{"text": "SLC6A8", "start": 98, "end": 104}], "disease": [{"text": "CRTR-D", "start": 34, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC6A8", "start": 98, "end": 104}, "tail": {"text": "CRTR-D", "start": 34, "end": 40}}]}}, "schema": []}
{"input": "Analysis of multiple adenomatous polyps from individual patients revealed that not all polyps contained elevated levels of sPLA2 mRNA.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 123, "end": 128}], "disease": [{"text": "multiple adenomatous polyps", "start": 12, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "USP44 regulates centrosome positioning to prevent aneuploidy and suppress tumorigenesis.", "output": {"entities": {"gene": [{"text": "USP44", "start": 0, "end": 5}], "disease": [{"text": "aneuploidy", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that angiotensin II (Ang II) in the central nervous system modulates catecholamine-induced cardiac arrhythmias and to determine whether endogenous opioids are operative in this action, arrhythmias were produced in male Wistar rats, by continuous infusion of epinephrine at incremental doses until the development of fatal arrhythmias that were usually ventricular fibrillation.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 28, "end": 42}], "disease": [{"text": "cardiac arrhythmias", "start": 114, "end": 133}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "angiotensin II", "start": 28, "end": 42}, "tail": {"text": "cardiac arrhythmias", "start": 114, "end": 133}}]}}, "schema": []}
{"input": "These results show that the 10197G & gt; A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for LS and dystonia.", "output": {"entities": {"gene": [{"text": "ND3", "start": 73, "end": 76}], "disease": [{"text": "LS", "start": 146, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND3", "start": 73, "end": 76}, "tail": {"text": "LS", "start": 146, "end": 148}}]}}, "schema": []}
{"input": "Hsp gene expression profiles differ significantly between inflammatory (RA) and non-inflammatory (OA) joint diseases, showing significantly increased Hsp27 and Hsp90α mRNA levels in RA synovial tissues.", "output": {"entities": {"gene": [{"text": "Hsp90α", "start": 160, "end": 166}], "disease": [{"text": "joint diseases", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "ICE images were obtained from the right atrium during (1) acute left ventricular dysfunction; (2) acute coronary occlusion; (3) pericardial effusion and tamponade; and (4) pulmonary embolism.", "output": {"entities": {"gene": [{"text": "ICE", "start": 0, "end": 3}], "disease": [{"text": "pulmonary embolism", "start": 172, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "To further investigate the proposed association and to better clarify the role of ACE as a risk factor for AD, we analyzed the genotype and allele frequency distribution of ACE I/D and apolipoprotein E (APOE) gene polymorphisms in 235 Italian patients with sporadic AD, 153 with familial AD (FAD), 192 healthy controls and 111 centenarians.", "output": {"entities": {"gene": [{"text": "FAD", "start": 292, "end": 295}], "disease": [{"text": "sporadic", "start": 257, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: Several genetic markers were nominally significantly associated with high-grade myopia in qualitative testing, including rs3803036, a missense mutation in PTPRR (P = 9. 1 × 10 (-4)) and rs4764971, an intronic SNP in UHRF1BP1L (P = 6. 1 × 10 (-4)).", "output": {"entities": {"gene": [{"text": "UHRF1BP1L", "start": 225, "end": 234}], "disease": [{"text": "myopia", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "MKRN1 knockdown results in FADD protein stabilization and formation of the rapid death-inducing signalling complex, which causes hypersensitivity to extrinsic apoptosis by facilitating caspase-8 and caspase-3 cleavage in response to death signals.", "output": {"entities": {"gene": [{"text": "MKRN1", "start": 0, "end": 5}], "disease": [{"text": "hypersensitivity", "start": 129, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Aspirin prophylaxis begun for suspected rheumatic fever led to compartment syndromes of all four extremities, which resolved with high-dose FVIII and surgical decompression.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 140, "end": 145}], "disease": [{"text": "compartment syndromes", "start": 63, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "While only three fusion partners of RUNX1 namely ETO, ETV6 and MTG16 have been described so far, there is a plethora of ETV6 fusion partners with about 20 partners described so far.", "output": {"entities": {"gene": [{"text": "MTG16", "start": 63, "end": 68}], "disease": [{"text": "plethora", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "This result suggests that reduced expression of Fut8 is a plausible cause of schizophrenia and related disorders.", "output": {"entities": {"gene": [{"text": "Fut8", "start": 48, "end": 52}], "disease": [{"text": "schizophrenia and related disorders", "start": 77, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Fut8", "start": 48, "end": 52}, "tail": {"text": "schizophrenia and related disorders", "start": 77, "end": 112}}]}}, "schema": []}
{"input": "Trisomy 9, trisomy 22, and polyploidy of chromosomes 9 and 22 were specific atypical FISH signal patterns for childhood B cell acute lymphoblastic leukemia (B-ALL) patients.", "output": {"entities": {"gene": [{"text": "FISH", "start": 85, "end": 89}], "disease": [{"text": "polyploidy", "start": 27, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "TSA could be a candidate of a therapeutic agent for reversing the TGF-beta1-induced ECM synthesis that leads to nasal polyp development.", "output": {"entities": {"gene": [{"text": "TSA", "start": 0, "end": 3}], "disease": [{"text": "nasal polyp", "start": 112, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "P-cadherin was not detected in Borrmann' s type-4 or scirrhous carcinomas where the tumor cells proliferate diffusely with productive fibrosis.", "output": {"entities": {"gene": [{"text": "P-cadherin", "start": 0, "end": 10}], "disease": [{"text": "fibrosis", "start": 134, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Decreased FA in of the columns of the fornix is particularly robust in early FAD and may provide a biomarker for early disease in sporadic Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "FAD", "start": 77, "end": 80}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "WISE enrolled women with symptoms and signs of ischemia referred for coronary angiography; WTH enrolled asymptomatic, community-based women without heart disease.", "output": {"entities": {"gene": [{"text": "WISE", "start": 0, "end": 4}], "disease": [{"text": "ischemia", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "To determine the mechanism of RGC-32 in angiogenesis, we examined the role of RGC-32 in hypoxia-related endothelial cell function.", "output": {"entities": {"gene": [{"text": "RGC-32", "start": 30, "end": 36}], "disease": [{"text": "hypoxia", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.", "output": {"entities": {"gene": [{"text": "caspase-10", "start": 34, "end": 44}], "disease": [{"text": "autoimmune lymphoproliferative syndrome", "start": 67, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "caspase-10", "start": 34, "end": 44}, "tail": {"text": "autoimmune lymphoproliferative syndrome", "start": 67, "end": 106}}]}}, "schema": []}
{"input": "In 45 primary ovarian carcinoma samples where both components of the IL-11 receptor (IL-11Ralpha and gp130) were examined, coexpression was observed in 42 (93. 3%).", "output": {"entities": {"gene": [{"text": "gp130", "start": 101, "end": 106}], "disease": [{"text": "ovarian carcinoma", "start": 14, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "gp130", "start": 101, "end": 106}, "tail": {"text": "ovarian carcinoma", "start": 14, "end": 31}}]}}, "schema": []}
{"input": "Other pathogenic theories consider tumour derived factors, such as LMF (Lipid Mobilising Factor) and PIF (Proteolysis-inducing Factor), to be responsible for the weight losing pattern of cancer patients via activation of various catabolic pathways (e. g.", "output": {"entities": {"gene": [{"text": "Proteolysis-inducing Factor", "start": 106, "end": 133}], "disease": [{"text": "weight", "start": 162, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Because ozone produces oxidative stress, increased airway TNF, and inflammation, the associations of the-308 TNF polymorphism with asthma may vary by ozone exposure and variants of oxidant defense genes glutathione-S-transferase (GST) M1 and GSTP1.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 242, "end": 247}], "disease": [{"text": "inflammation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of dnaaf3 in zebrafish likewise disrupts dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus and laterality malformations.", "output": {"entities": {"gene": [{"text": "dnaaf3", "start": 13, "end": 19}], "disease": [{"text": "primary ciliary dyskinesia", "start": 101, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dnaaf3", "start": 13, "end": 19}, "tail": {"text": "primary ciliary dyskinesia", "start": 101, "end": 127}}]}}, "schema": []}
{"input": "In this review we will discuss recent progress made in the understanding of the BAFF/APRIL-TACI/BCMA/BAFF receptor system in relation to the recent discovery that mutations in human TACI cause a primary humoral immunodeficiency.", "output": {"entities": {"gene": [{"text": "BCMA", "start": 96, "end": 100}], "disease": [{"text": "humoral immunodeficiency", "start": 203, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry against known cell-type markers on serial sections has localised the expression of REGs to metaplastic Paneth cells (REG1A, REG1B and REG3A) and enteroendocrine cells (REG4), with a marked expansion of expression during inflammation.", "output": {"entities": {"gene": [{"text": "REG1B", "start": 145, "end": 150}], "disease": [{"text": "inflammation", "start": 241, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism.", "output": {"entities": {"gene": [{"text": "GNAI3", "start": 25, "end": 30}], "disease": [{"text": "ocular albinism", "start": 82, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNAI3", "start": 25, "end": 30}, "tail": {"text": "ocular albinism", "start": 82, "end": 97}}]}}, "schema": []}
{"input": "The PTEN gene (phosphatase and tensin homologous on chromosome 10) is frequently mutated or deleted in a number of malignancies including human hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "tensin", "start": 31, "end": 37}], "disease": [{"text": "malignancies", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "MTL in HCC was significantly shorter than chronic hepatitis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 7, "end": 10}], "disease": [{"text": "chronic hepatitis", "start": 42, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.", "output": {"entities": {"gene": [{"text": "SOX3 gene", "start": 74, "end": 83}], "disease": [{"text": "sex reversal", "start": 8, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor' s DNA binding.", "output": {"entities": {"gene": [{"text": "TWIST2", "start": 44, "end": 50}], "disease": [{"text": "AMS", "start": 67, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TWIST2", "start": 44, "end": 50}, "tail": {"text": "AMS", "start": 67, "end": 70}}]}}, "schema": []}
{"input": "GPR26-deficient mice display increased anxiety-and depression-like behaviors accompanied by reduced phosphorylated cyclic AMP responsive element-binding protein level in central amygdala.", "output": {"entities": {"gene": [{"text": "AMP", "start": 122, "end": 125}], "disease": [{"text": "depression", "start": 51, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 122, "end": 125}, "tail": {"text": "depression", "start": 51, "end": 61}}]}}, "schema": []}
{"input": "Expression of DRCTNNB1A in SW480 colon cancer cells was significantly increased in response to reduction of intracellular beta-catenin by adenovirus-mediated transfer of the beta-catenin-binding domain of the adenomatous polyposis coli gene into the cells.", "output": {"entities": {"gene": [{"text": "DRCTNNB1A", "start": 14, "end": 23}], "disease": [{"text": "adenovirus", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "A significant correlation was found between baseline TAFI antigen concentrations and the duration of amenorrhea (P & lt; 0. 05; r = 0. 33).", "output": {"entities": {"gene": [{"text": "TAFI", "start": 53, "end": 57}], "disease": [{"text": "amenorrhea", "start": 101, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TAFI", "start": 53, "end": 57}, "tail": {"text": "amenorrhea", "start": 101, "end": 111}}]}}, "schema": []}
{"input": "Experimental data showed that SGEF was overexpressed in human prostate cancer cells and specimens.", "output": {"entities": {"gene": [{"text": "SGEF", "start": 30, "end": 34}], "disease": [{"text": "prostate cancer", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "However, the effects of the ADH2 polymorphism may be mild because this polymorphism does not seem to influence alcohol drinking behavior in these study subjects.", "output": {"entities": {"gene": [{"text": "ADH2", "start": 28, "end": 32}], "disease": [{"text": "mild", "start": 53, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "No ALK translocations were identified in 36 PTCs with distant metastases, 28 poorly differentiated (insular) carcinomas, and 20 anaplastic carcinomas.", "output": {"entities": {"gene": [{"text": "ALK", "start": 3, "end": 6}], "disease": [{"text": "PTC", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALK", "start": 3, "end": 6}, "tail": {"text": "PTC", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "Decreased LARGE expression and hypermethylation of the LARGE gene promoter were correlated with lymph node metastasis and α-DG glycosylation in human tongue cancer (n = 50; P =. 043 and. 015 respectively).", "output": {"entities": {"gene": [{"text": "LARGE", "start": 10, "end": 15}], "disease": [{"text": "lymph node metastasis", "start": 96, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance.", "output": {"entities": {"gene": [{"text": "ZNF816A", "start": 137, "end": 144}], "disease": [{"text": "psoriasis", "start": 161, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ZNF816A", "start": 137, "end": 144}, "tail": {"text": "psoriasis", "start": 161, "end": 170}}]}}, "schema": []}
{"input": "There was little change in medial area and no evidence of neointima in the contralateral carotid of WT or PAPP-A Tg mice.", "output": {"entities": {"gene": [{"text": "PAPP-A", "start": 106, "end": 112}], "disease": [{"text": "neointima", "start": 58, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Previously, we and others reported that homozygous mutations in the fetal acetylcholine receptor gamma subunit (CHRNG) can cause both lethal and non-lethal MPS, demonstrating that pterygia resulted from fetal akinesia, and that mutations in the acetylcholine receptor subunits CHRNA1, CHRND, and Rapsyn (RAPSN) can also result in a MPS/FADS phenotype.", "output": {"entities": {"gene": [{"text": "CHRND", "start": 285, "end": 290}], "disease": [{"text": "pterygia", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "When PBSC were obtained from a patient with PCR-positive acute lymphocytic leukemia and treated with the CD4 (-)-LAK for 3 h, reexamination showed conversion to PCR negativity.", "output": {"entities": {"gene": [{"text": "LAK", "start": 113, "end": 116}], "disease": [{"text": "acute lymphocytic leukemia", "start": 57, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Expression of an estrogen-induced breast cancer-associated protein (pS2) in benign and malignant human ovarian cysts.", "output": {"entities": {"gene": [{"text": "pS2", "start": 68, "end": 71}], "disease": [{"text": "ovarian cysts", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The 5' untranslated region (UTR) of the varCSA-type sequence is also transcribed in placental isolates that bind to CSA, illustrating an important role for the unique 5' varCSA-type sequence in the regulation of var genes involved in malaria pathogenesis in pregnant women.", "output": {"entities": {"gene": [{"text": "UTR", "start": 28, "end": 31}], "disease": [{"text": "malaria", "start": 234, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as \" animal-type melanoma \" and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC).", "output": {"entities": {"gene": [{"text": "PEM", "start": 36, "end": 39}], "disease": [{"text": "melanocytoma", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We used single-stranded conformation variance analysis of the exons of the human LCHAD (alpha subunit) gene to determine the molecular basis of LCHAD deficiency in three families with children presenting with sudden unexplained death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).", "output": {"entities": {"gene": [{"text": "LCHAD", "start": 81, "end": 86}], "disease": [{"text": "LCHAD deficiency", "start": 144, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCHAD", "start": 81, "end": 86}, "tail": {"text": "LCHAD deficiency", "start": 144, "end": 160}}]}}, "schema": []}
{"input": "Fibroblasts derived from two recently identified bare lymphocyte syndrome patients, EBA and FZA, were found to contain novel mutations in the RFX-B gene.", "output": {"entities": {"gene": [{"text": "RFX-B", "start": 142, "end": 147}], "disease": [{"text": "bare lymphocyte syndrome", "start": 49, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RFX-B", "start": 142, "end": 147}, "tail": {"text": "bare lymphocyte syndrome", "start": 49, "end": 73}}]}}, "schema": []}
{"input": "In human hepatocellular carcinoma (HCC) cells (Hep3B, HepG2, Huh7), adenovirus-mediated overexpression of E2F-1 (AdCMV-E2F) transcriptionally increased PKR mRNA.", "output": {"entities": {"gene": [{"text": "PKR", "start": 152, "end": 155}], "disease": [{"text": "adenovirus", "start": 68, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Our studies suggest that the hypersensitivity of NT2/D1 cells to low-dose 5-aza is multifactorial and involves the combined activation of p53 targets, repression of pluripotency genes, and activation of genes repressed by DNA methylation.", "output": {"entities": {"gene": [{"text": "p53", "start": 138, "end": 141}], "disease": [{"text": "hypersensitivity", "start": 29, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Western blots revealed overexpression of & #946;-catenin, c-Myc, cyclin D1, inducible nitric oxide synthase and cyclooxygenase-2 in colon tumor samples.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 65, "end": 74}], "disease": [{"text": "colon tumor", "start": 132, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclin D1", "start": 65, "end": 74}, "tail": {"text": "colon tumor", "start": 132, "end": 143}}]}}, "schema": []}
{"input": "We developed mice with a thyroid-specific knock-in of oncogenic Braf (LSL-Braf (V600E)/TPO-Cre) to explore the role of endogenous expression of this oncoprotein on tumor initiation and progression.", "output": {"entities": {"gene": [{"text": "TPO", "start": 87, "end": 90}], "disease": [{"text": "tumor initiation", "start": 164, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Using two functionally distinct NF-kappaB inhibitors we observed a decrease in latency to onset of kainate-induced seizures and status epilepticus.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 32, "end": 41}], "disease": [{"text": "status epilepticus", "start": 128, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Indeed, ascites-and LPA-induced migration was inhibited by Ki16425, an LPA (1) and LPA (3) antagonist, in Panc-1 cells.", "output": {"entities": {"gene": [{"text": "LPA", "start": 20, "end": 23}], "disease": [{"text": "ascites", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "We studied the role of SR-A and CD36 in foam cell formation and atherogenesis by RNA interference (RNAi)-mediated silencing, which is a clinically feasible method to down-regulate the expression of these receptors.", "output": {"entities": {"gene": [{"text": "CD36", "start": 32, "end": 36}], "disease": [{"text": "atherogenesis", "start": 64, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The results provide strong evidence that MT-3 could be a biomarker for the development of high-grade bladder cancer and that the expression of the MT-3 gene is not involved in the in vitro malignant transformation of UROtsa cells by Cd (+ 2) and As (+ 3).", "output": {"entities": {"gene": [{"text": "MT-3", "start": 41, "end": 45}], "disease": [{"text": "bladder cancer", "start": 101, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MT-3", "start": 41, "end": 45}, "tail": {"text": "bladder cancer", "start": 101, "end": 115}}]}}, "schema": []}
{"input": "Interestingly, background liver parenchyma showed no inflammation or fibrosis and BSEP expression was preserved.", "output": {"entities": {"gene": [{"text": "BSEP", "start": 82, "end": 86}], "disease": [{"text": "fibrosis", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.", "output": {"entities": {"gene": [{"text": "RDS", "start": 104, "end": 107}], "disease": [{"text": "central areolar choroidal dystrophy", "start": 19, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDS", "start": 104, "end": 107}, "tail": {"text": "central areolar choroidal dystrophy", "start": 19, "end": 54}}]}}, "schema": []}
{"input": "These findings also suggest that calpain 3 deficiency occurs in both sporadic and familial LGMD and that direct analysis of the calpain 3 gene may be useful in the definitive diagnosis not only of the 15q-linked familial but also of sporadic cases of LGMD.", "output": {"entities": {"gene": [{"text": "calpain 3", "start": 33, "end": 42}], "disease": [{"text": "sporadic", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Treatment with AqE-TFG produced significant reduction in body weight gain, body mass index (BMI), white adipose tissue (WAT) weights, blood glucose, serum insulin, lipids, leptin, lipase, and apolipoprotein-B levels and elevation in adiponectin levels.", "output": {"entities": {"gene": [{"text": "TFG", "start": 19, "end": 22}], "disease": [{"text": "body weight gain", "start": 57, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The objectives of this study were to determine the effects of intraduodenal (ID) glucose infusions at 2 (ID2) and 4 (ID4) kcal/min (equating to two rates of gastric emptying within the physiological range) on the size of the incretin effect, gastrointestinal glucose disposal (GIGD), plasma GIP, GLP-1, and glucagon secretion in health and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "ID4", "start": 117, "end": 120}], "disease": [{"text": "type 2 diabetes", "start": 340, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "AIM: Using the cDNA microarray method, we have previously compared expression under two distinct conditions: a pool of 4 clinically non-functioning pituitary adenomas (NFPA) and a spinal cord metastasis of a non-functioning pituitary carcinoma, in order to gain biological insights into genomic changes of pituitary neoplasias.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "pituitary carcinoma", "start": 224, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Correlation of chromosomal instability (CIN) with BRCA1 expression and p53 abnormality was studied in sporadic breast cancers since these genes are implicated in the double strand DNA repair and mitotic checkpoint, and loss of their function is speculated to result in the accumulation of CIN.", "output": {"entities": {"gene": [{"text": "p53", "start": 71, "end": 74}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Both CD21 and CD19 deficiencies cause hypogammaglobulinemia and reduced memory B cells.", "output": {"entities": {"gene": [{"text": "CD21", "start": 5, "end": 9}], "disease": [{"text": "hypogammaglobulinemia", "start": 38, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD21", "start": 5, "end": 9}, "tail": {"text": "hypogammaglobulinemia", "start": 38, "end": 59}}]}}, "schema": []}
{"input": "The importance of the Fstl1 induction of OSM to airway remodeling was demonstrated in murine studies in which administration of Fstl1 induced airway remodeling and increased OSM, whereas administration of an anti-OSM Ab blocked the effect of Fstl1 on inducing airway remodeling, eosinophilic airway inflammation, and airway hyperresponsiveness, all cardinal features of asthma.", "output": {"entities": {"gene": [{"text": "OSM", "start": 41, "end": 44}], "disease": [{"text": "asthma", "start": 370, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "High expression of TRF2, SOX10, and CD10 in circulating tumor microemboli detected in metastatic melanoma patients. A potential impact for the assessment of disease aggressiveness.", "output": {"entities": {"gene": [{"text": "TRF2", "start": 19, "end": 23}], "disease": [{"text": "metastatic melanoma", "start": 86, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Controlling for age and race differences (ie, 74% of African Americans v 47% of whites had positive FH), the positive FH group exhibited greater LVM/height (2. 7), LVM/body surface area, higher systolic (SBP) and diastolic blood pressures (DBP), and total peripheral resistance index (TPRI) and lower cardiac index at rest (P <. 05 for all).", "output": {"entities": {"gene": [{"text": "DBP", "start": 240, "end": 243}], "disease": [{"text": "height", "start": 149, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Induction of native and foreign HGF synthesis in damaged TECs at the initial stage of AKI leads to recovery of the disturbed balance of HGF/TGF-β1 during scar formation, being one of the vital mechanisms.", "output": {"entities": {"gene": [{"text": "HGF", "start": 32, "end": 35}], "disease": [{"text": "scar", "start": 154, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Lack of claudin-1 in NISCH syndrome may lead to increased paracellular permeability between epithelial cells.", "output": {"entities": {"gene": [{"text": "claudin-1", "start": 8, "end": 17}], "disease": [{"text": "NISCH syndrome", "start": 21, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "claudin-1", "start": 8, "end": 17}, "tail": {"text": "NISCH syndrome", "start": 21, "end": 35}}]}}, "schema": []}
{"input": "This study provides no support for the hypothesis that fast NAT2 acetylators are at increased risk of colorectal cancer, even if exposed to high levels of HA from well-cooked meat or smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 60, "end": 64}], "disease": [{"text": "smoking", "start": 183, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, in contrast to previous reports, the expression of GCS protein was shown to be much higher in ductal carcinoma in-situ than that in invasive ductal cancer.", "output": {"entities": {"gene": [{"text": "GCS", "start": 64, "end": 67}], "disease": [{"text": "ductal carcinoma", "start": 107, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that germ-line msh6 mutations predispose individuals to primarily late-onset, familial colorectal carcinomas that do not fulfill classic criteria for HNPCC.", "output": {"entities": {"gene": [{"text": "msh6", "start": 32, "end": 36}], "disease": [{"text": "colorectal carcinomas", "start": 104, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "msh6", "start": 32, "end": 36}, "tail": {"text": "colorectal carcinomas", "start": 104, "end": 125}}]}}, "schema": []}
{"input": "The depressed sarcoplasmic reticulum (SR) Ca2 +-ATPase (SERCA2a) and Ca2 +-release channels (ryanodine receptor RyR2) are involved in the diabetic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 42, "end": 45}], "disease": [{"text": "diabetic cardiomyopathy", "start": 138, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In HCC cells, high levels of p300 facilitated the binding of YAP to the MCAM promoter, which in turn enhanced histone acetylation and polymerase II recruitment through the dissociation of the deacetylase Sirt1.", "output": {"entities": {"gene": [{"text": "MCAM", "start": 72, "end": 76}], "disease": [{"text": "dissociation", "start": 172, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We conclude that miRNA-dependent SERCA2 dysregulation is a pathogenic event in 22q11DS and schizophrenia.", "output": {"entities": {"gene": [{"text": "SERCA2", "start": 33, "end": 39}], "disease": [{"text": "schizophrenia", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SERCA2", "start": 33, "end": 39}, "tail": {"text": "schizophrenia", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "Sema3E affected integrin-mediated adhesion to fibronectin of prostate cancer cells, and inhibited their motility.", "output": {"entities": {"gene": [{"text": "Sema3E", "start": 0, "end": 6}], "disease": [{"text": "adhesion", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Analysis of genetic variations of protein tyrosine kinase fyn and their association with alcohol dependence in two independent cohorts.", "output": {"entities": {"gene": [{"text": "protein tyrosine kinase", "start": 34, "end": 57}], "disease": [{"text": "alcohol dependence", "start": 89, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein tyrosine kinase", "start": 34, "end": 57}, "tail": {"text": "alcohol dependence", "start": 89, "end": 107}}]}}, "schema": []}
{"input": "Reduced expression of apolipoprotein E receptor type 2 in peripheral blood lymphocytes from patients with major depressive disorder.", "output": {"entities": {"gene": [{"text": "apolipoprotein E receptor", "start": 22, "end": 47}], "disease": [{"text": "major depressive disorder", "start": 106, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "apolipoprotein E receptor", "start": 22, "end": 47}, "tail": {"text": "major depressive disorder", "start": 106, "end": 131}}]}}, "schema": []}
{"input": "SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.", "output": {"entities": {"gene": [{"text": "WNT4", "start": 90, "end": 94}], "disease": [{"text": "SERKAL syndrome", "start": 0, "end": 15}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT4", "start": 90, "end": 94}, "tail": {"text": "SERKAL syndrome", "start": 0, "end": 15}}]}}, "schema": []}
{"input": "Examination of GTT1 mRNA expression by semiquantitative RT-PCR assays in a series of tumour cell lines indicated wide-spread GTT1 expression with predominance in both choriocarcinoma JEG-3 and JAR cells, colorectal adenocarcinoma HT29 and hepatocellular carcinoma HepG2 cells.", "output": {"entities": {"gene": [{"text": "GTT1", "start": 15, "end": 19}], "disease": [{"text": "colorectal adenocarcinoma", "start": 204, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Three hundred and ninety-eight HBV-positive individuals (192 HCC and 206 patients with chronic hepatitis) and one hundred and ninety-two healthy participants from the First Affiliated Hospital of Guangxi Medical University were enrolled in this study.", "output": {"entities": {"gene": [{"text": "HCC", "start": 61, "end": 64}], "disease": [{"text": "chronic hepatitis", "start": 87, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA.", "output": {"entities": {"gene": [{"text": "HPT", "start": 50, "end": 53}], "disease": [{"text": "idiopathic hypoparathyroidism", "start": 19, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "CYR61 is an extracellular matrix-associated protein that promotes adhesion, migration, and proliferation of endothelial cells and fibroblasts.", "output": {"entities": {"gene": [{"text": "CYR61", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.", "output": {"entities": {"gene": [{"text": "acid sphingomyelinase", "start": 75, "end": 96}], "disease": [{"text": "type A Niemann-Pick disease", "start": 122, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid sphingomyelinase", "start": 75, "end": 96}, "tail": {"text": "type A Niemann-Pick disease", "start": 122, "end": 149}}]}}, "schema": []}
{"input": "The protection from polyploidy conferred by Nampt was not associated with enhanced poly (ADP-ribose) polymerase-1 or sirtuin (SIRT) 2 activity, but with increased SIRT1 activity, which reduced cellular reactive oxygen species and the associated oxidative stress stimulus for the induction of polyploidy.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 163, "end": 168}], "disease": [{"text": "polyploidy", "start": 20, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "p53 expression showed the following percentages: VIN: 60. 7% (17/28), cancer: 18. 9% (7/37) and control: 8. 3% (1/12) (p = 0. 01).", "output": {"entities": {"gene": [{"text": "VIN", "start": 49, "end": 52}], "disease": [{"text": "cancer", "start": 70, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "However, we report here that thyroxine-substituted female Pax8 (-/-) mice are infertile because they lack a functional uterus revealing only remnants of myometrial tissue.", "output": {"entities": {"gene": [{"text": "Pax8", "start": 58, "end": 62}], "disease": [{"text": "infertile", "start": 78, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "As a result, Mst1 Tg mice develop adult dilated cardiomyopathy driven by apoptosis, reduction in cell density and no hypertrophic compensation.", "output": {"entities": {"gene": [{"text": "Mst1", "start": 13, "end": 17}], "disease": [{"text": "dilated cardiomyopathy", "start": 40, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of DNA from a family with autopsy-proven Alzheimer' s disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein.", "output": {"entities": {"gene": [{"text": "amyloid precursor protein", "start": 171, "end": 196}], "disease": [{"text": "Alzheimer' s disease", "start": 59, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "amyloid precursor protein", "start": 171, "end": 196}, "tail": {"text": "Alzheimer' s disease", "start": 59, "end": 79}}]}}, "schema": []}
{"input": "Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.", "output": {"entities": {"gene": [{"text": "CSF2RB", "start": 20, "end": 26}], "disease": [{"text": "major depression", "start": 77, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSF2RB", "start": 20, "end": 26}, "tail": {"text": "major depression", "start": 77, "end": 93}}]}}, "schema": []}
{"input": "The association between five TNFSF15 SNPs (rs4574921, rs3810936, rs6478108, rs6478109, and rs7848647) and various clinical parameters including stricture, non-perianal penetrating complications, bowel resection, and reoperation was investigated.", "output": {"entities": {"gene": [{"text": "TNFSF15", "start": 29, "end": 36}], "disease": [{"text": "stricture", "start": 144, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We studied gene variants of estrogen receptor alpha (rs827421, rs1913474, rs1801132, rs722207, rs974276 and rs910416) in 167 German suicide attempters (affective spectrum n = 107, schizophrenia spectrum n = 35, borderline personality disorder n = 25), 92 German individuals who committed suicide and 312 German healthy subjects.", "output": {"entities": {"gene": [{"text": "estrogen receptor alpha", "start": 28, "end": 51}], "disease": [{"text": "personality disorder", "start": 222, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "These results provide additional evidence that mutations in the NF2 gene play an important role in the development of sporadic meningiomas and schwannomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 64, "end": 72}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Of our PSACH patients, 19% tested negative for both COMP and Col9A3 mutations, and they presented with the greatest mean height deviations, but the least mean MADs.", "output": {"entities": {"gene": [{"text": "COMP", "start": 52, "end": 56}], "disease": [{"text": "height", "start": 121, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Because of the inflammatory nature and extensive stromal compartment in pancreatic tumors, we investigated the role of mesenchymal stromal cells (MSC) to engraft selectively in pancreatic carcinomas and serve as anti-tumor drug delivery vehicles to control pancreatic cancer progression.", "output": {"entities": {"gene": [{"text": "MSC", "start": 146, "end": 149}], "disease": [{"text": "carcinomas", "start": 188, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "The loss of the caspase-2 gene (Casp2) enhances oncogene-mediated tumorigenesis induced by E1A/Ras in athymic nude mice, and also in the Eμ-Myc lymphoma and MMTV/c-neu mammary tumor mouse models.", "output": {"entities": {"gene": [{"text": "Casp2", "start": 32, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were collected from 72 patients with HCC, 37 with liver cirrhosis or chronic hepatitis and 41 healthy volunteers.", "output": {"entities": {"gene": [{"text": "HCC", "start": 51, "end": 54}], "disease": [{"text": "chronic hepatitis", "start": 83, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Although the + 104T/C polymorphism in the 5' untranslated region (UTR) of growth differentiation factor 5 (GDF5) plays a role in the pathogenesis of knee osteoarthritis, the results have been inconsistent.", "output": {"entities": {"gene": [{"text": "UTR", "start": 66, "end": 69}], "disease": [{"text": "knee osteoarthritis", "start": 149, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Subgroup analysis comparing patients with stage I mesothelioma with subjects with exposure to asbestos revealed a sensitivity of 84. 6 percent and a specificity of 88. 4 percent at a cutoff value of 62. 4 ng of osteopontin per milliliter.", "output": {"entities": {"gene": [{"text": "osteopontin", "start": 211, "end": 222}], "disease": [{"text": "mesothelioma", "start": 50, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "osteopontin", "start": 211, "end": 222}, "tail": {"text": "mesothelioma", "start": 50, "end": 62}}]}}, "schema": []}
{"input": "We further demonstrated that SAC stabilized the adherent junction complex of E-cadherin/beta-catenin in oral cancer cells.", "output": {"entities": {"gene": [{"text": "SAC", "start": 29, "end": 32}], "disease": [{"text": "oral cancer", "start": 104, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "DEC1 (BHLHB2/Stra13/Sharp2) and DEC2 (BHLHB3/Sharp1) are basic helix-loop-helix (bHLH) transcription factors that are involved in circadian rhythms, differentiation and the responses to hypoxia.", "output": {"entities": {"gene": [{"text": "Sharp1", "start": 45, "end": 51}], "disease": [{"text": "circadian rhythms", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We have mapped recessive nanophthalmos to a unique locus at 11q23. 3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors.", "output": {"entities": {"gene": [{"text": "MFRP", "start": 114, "end": 118}], "disease": [{"text": "nanophthalmos", "start": 25, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MFRP", "start": 114, "end": 118}, "tail": {"text": "nanophthalmos", "start": 25, "end": 38}}]}}, "schema": []}
{"input": "Increased PED/PEA-15 levels may affect tumorigenesis and cancer progression as well as sensitivity to anticancer agents.", "output": {"entities": {"gene": [{"text": "PEA-15", "start": 14, "end": 20}], "disease": [{"text": "tumorigenesis", "start": 39, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "BACH1-deficient cells were also sensitive to mitomycin C (MMC) and underwent MMC-induced chromosome instability.", "output": {"entities": {"gene": [{"text": "BACH1", "start": 0, "end": 5}], "disease": [{"text": "chromosome instability", "start": 89, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This finding was not altered when adjusting for potential confounding factors (duration of tamoxifen treatment, CYP2D6 phenotype, estradiol serum concentration, age and body mass index).", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 112, "end": 118}], "disease": [{"text": "body mass index", "start": 169, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "Methylation of cyclin D2 was also observed more in non-neoplastic tissues and with increasing age (P = 0. 041 in the pancreas, P = 0. 047 in the duodenum, and P = 0. 0008 in the gallbladder).", "output": {"entities": {"gene": [{"text": "cyclin D2", "start": 15, "end": 24}], "disease": [{"text": "non-neoplastic", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We used quantitative real-time PCR to measure expressions of SRp20, SRp30c, SC35, SRp40, SRp46, SRp54, SRp55, SRp75, ASF/SF2, and 9G8 mRNA in peripheral white blood cells of 33 mood disorder patients during a depressive episode.", "output": {"entities": {"gene": [{"text": "SRp30c", "start": 68, "end": 74}], "disease": [{"text": "mood disorder", "start": 177, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Using oligonucleotide expression arrays, mRNA levels of PRL-1 and PRL-2 but not PRL-3 were identified as up-regulated in pancreatic cancer cell lines and tumor samples taken directly from patients compared with those of normal pancreas.", "output": {"entities": {"gene": [{"text": "PRL-2", "start": 66, "end": 71}], "disease": [{"text": "pancreatic cancer", "start": 121, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "However, little is known about the role of LMO3 in either tumorigenesis or development.", "output": {"entities": {"gene": [{"text": "LMO3", "start": 43, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "This study examined whether reactivity to alcohol cues in the ANP target region amygdala, a key area implicated in addictive behavior, differs depending on the GATA4 genotype of a patient.", "output": {"entities": {"gene": [{"text": "ANP", "start": 62, "end": 65}], "disease": [{"text": "addictive behavior", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We therefore investigated gene expression of 25 inflammation-related miRNAs, 27 cytokines/chemokines/receptors, and a Th1-transcription factor T-bet in unseparated BAL cells obtained from 48 sarcoidosis patients and 14 control subjects using quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "Th1", "start": 118, "end": 121}], "disease": [{"text": "inflammation", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Through a subsequent positional cloning effort we found that this breakpoint targets a hitherto unidentified gene, designated DIRC2 (disrupted in renal cancer 2).", "output": {"entities": {"gene": [{"text": "DIRC2", "start": 126, "end": 131}], "disease": [{"text": "renal cancer", "start": 146, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "To investigate risk factors for adult lumbar spine osteoarthritis (OA) including polymorphisms of the vitamin D receptor gene (VDR) and birthweight.", "output": {"entities": {"gene": [{"text": "VDR", "start": 127, "end": 130}], "disease": [{"text": "birthweight", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Ectonucleoside triphosphate diphosphohydrolase 6 expression in testis and testicular cancer and its implication in cisplatin resistance.", "output": {"entities": {"gene": [{"text": "Ectonucleoside triphosphate diphosphohydrolase 6", "start": 0, "end": 48}], "disease": [{"text": "testicular cancer", "start": 74, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking FATP4, which genetically model the human disease, are born with tight, thick skin and a defective skin barrier; they die neonatally due to dehydration and restricted movements.", "output": {"entities": {"gene": [{"text": "FATP4", "start": 13, "end": 18}], "disease": [{"text": "thick skin", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Sequential activation of hypoxia-inducible factor 1 and specificity protein 1 is required for hypoxia-induced transcriptional stimulation of Abcc8.", "output": {"entities": {"gene": [{"text": "Abcc8", "start": 141, "end": 146}], "disease": [{"text": "hypoxia", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In the current study, 31% of patients with sporadic ALS carried a mutation in the Hfe gene, compared to only 14% of patients without identifiable neuromuscular disease, or with neuromuscular diseases other than ALS (p < 0. 005).", "output": {"entities": {"gene": [{"text": "Hfe gene", "start": 82, "end": 90}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We investigated the expression of KIT and stem cell factor (SCF) in CRC in comparison with premalignant colon lesions and normal colonic mucosa to assess the prognostic and therapeutic relevance of this receptor/ligand system in CRC.", "output": {"entities": {"gene": [{"text": "SCF", "start": 60, "end": 63}], "disease": [{"text": "premalignant", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "No known genes were disrupted by the translocation breakpoints but several candidate TSGs (e. g., EPHB1, EPHA7, PPP2R3A RNF184, and STAG1) map within close proximity to the breakpoints.", "output": {"entities": {"gene": [{"text": "EPHA7", "start": 105, "end": 110}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "NKX6. 1 overexpression was significantly correlated with tumor size, tumor differentiation, clinical stage, metastasis, and relapse.", "output": {"entities": {"gene": [{"text": "NKX6. 1", "start": 0, "end": 7}], "disease": [{"text": "metastasis", "start": 108, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The other FSHR coding gene variations and CYP19A1 rs10046 investigated are most likely not involved in the aetiology of iatrogenic OHSS or sterility.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 10, "end": 14}], "disease": [{"text": "sterility", "start": 139, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Thus, we identified Wwox as a novel molecule in the HIF-1α-HDM2 regulatory loop, necessary for the dynamic regulation of the HIF-1α amount, and we suggested that the reduction of endogenous Wwox free pool under hypoxia might also be due to the interaction with HDM2, sequestering the E3 ubiquitin ligase.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 284, "end": 303}], "disease": [{"text": "hypoxia", "start": 211, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is a previously discovered angiogenic factor that seems to influence the neoangiogenesis of neoplastic and non-neoplastic tissues.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "non-neoplastic", "start": 149, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In line with significant overlap between age-and depression-related molecular pathways, parallel work has shown that FREM3 expression in postmortem human brain decreases with age.", "output": {"entities": {"gene": [{"text": "FREM3", "start": 117, "end": 122}], "disease": [{"text": "depression", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "To explain the observations in the context of chlamydial infection and trachoma we propose a two-stage model of response and disease that balances the cytolytic response of KIR expressing NK cells with the ability to secrete interferon gamma, a combination that may cause pathology.", "output": {"entities": {"gene": [{"text": "KIR", "start": 173, "end": 176}], "disease": [{"text": "chlamydial infection", "start": 46, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 15, "end": 30}], "disease": [{"text": "Budd-Chiari syndrome", "start": 94, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor V Leiden", "start": 15, "end": 30}, "tail": {"text": "Budd-Chiari syndrome", "start": 94, "end": 114}}]}}, "schema": []}
{"input": "Notably, increased levels of the p202 protein, which is encoded by the p53-repressible interferon-inducible Ifi202 gene, in B cells of female mice are associated with defects in B cell apoptosis, inhibition of the p53-mediated transcription of pro-apoptotic genes, and increased lupus susceptibility.", "output": {"entities": {"gene": [{"text": "p53", "start": 71, "end": 74}], "disease": [{"text": "lupus", "start": 279, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest HO-1 as a potential therapeutic target for obesity and its associated health risks.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 23, "end": 27}], "disease": [{"text": "obesity", "start": 66, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HO-1", "start": 23, "end": 27}, "tail": {"text": "obesity", "start": 66, "end": 73}}]}}, "schema": []}
{"input": "This finding is consistent with our observation that EVA occurs in the Slc26a4 (+/-); Foxi1 (+/-) double-heterozygous mouse mutant.", "output": {"entities": {"gene": [{"text": "Foxi1", "start": 86, "end": 91}], "disease": [{"text": "EVA", "start": 53, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Foxi1", "start": 86, "end": 91}, "tail": {"text": "EVA", "start": 53, "end": 56}}]}}, "schema": []}
{"input": "On the basis of immunoinformatics analysis, some substitutions were predicted to disrupt T-cell epitope immunogenicity/antigenicity that might largely influence the outcome of vaccine derived from JEV GIII SA14-14-2 strain and this has been observed in a previously vaccinated boy with mild JE/AES due to JEV GI infection.", "output": {"entities": {"gene": [{"text": "AES", "start": 294, "end": 297}], "disease": [{"text": "mild", "start": 286, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "The presence of an X4 strain was associated with CD4 nadir (p = 0. 005), CD4 absolute count over time (p < 0. 001), and cumulative positive (copy/years) viremia (p < 0. 001) during the whole patient history.", "output": {"entities": {"gene": [{"text": "CD4", "start": 49, "end": 52}], "disease": [{"text": "viremia", "start": 153, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our findings indicate that CLU is an important mediator of TGF-β-induced EMT, and suggest that CLU suppression may represent a promising therapeutic option for suppressing prostate cancer metastatic progression.", "output": {"entities": {"gene": [{"text": "EMT", "start": 89, "end": 92}], "disease": [{"text": "prostate cancer metastatic", "start": 188, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "AIM: To study the expression of p53, MDM2, and p14 ARF in the highly, moderately and low differentiated endometrial adenocarcinomas, compared to hyperplasia.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "hyperplasia", "start": 145, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "At present, the molecular, cellular, and microenvironmental mechanisms that enable post-EMT and metastatic carcinoma cells to hijack the oncogenic activities of TGF-β remain incompletely understood.", "output": {"entities": {"gene": [{"text": "EMT", "start": 88, "end": 91}], "disease": [{"text": "metastatic carcinoma", "start": 96, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "It would appear that the occurrence of calpain 3 gene mutations in sporadic LGMD in Japan may be quite high since all five patients with mutations in this gene were among the 14 patients without apparent family history, an incidence of 36%.", "output": {"entities": {"gene": [{"text": "calpain 3", "start": 39, "end": 48}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the type I keratin 16 (Krt16) and its partner type II keratin 6 (Krt6a, Krt6b) cause pachyonychia congenita (PC), a disorder typified by dystrophic nails, painful hyperkeratotic calluses in glabrous skin, and lesions involving other epithelial appendages.", "output": {"entities": {"gene": [{"text": "Krt6b", "start": 85, "end": 90}], "disease": [{"text": "painful", "start": 168, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The pathogenesis underlying most familial and sporadic VSs has been linked to a mutation in a single gene, the neurofibromin 2 (NF2) gene located on chromosome 22, band q11-13. 1.", "output": {"entities": {"gene": [{"text": "neurofibromin 2", "start": 111, "end": 126}], "disease": [{"text": "sporadic", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Cox' s proportional hazard analysis showed that the TT genotype is a significant risk factor for CVD (hazard ratio (HR) = 1. 82 (95% confidence interval (CI) 1. 14-2. 89); P = 0. 012) and stroke (HR = 1. 76 (95% CI: 1. 01-3. 07); P = 0. 048) incidences after adjustment for age, sex, hypertension, hyperlipidemia, diabetes, alcohol drinking and smoking at baseline.", "output": {"entities": {"gene": [{"text": "Cox' s", "start": 0, "end": 6}], "disease": [{"text": "smoking", "start": 345, "end": 352}]}, "relations": {}}, "schema": []}
{"input": "Bone morphogenetic protein-4 (BMP4) and its antagonist Noggin have been shown to play important roles both in embryonic development and in the adult nervous system, and may regulate hippocampal neurogenesis.", "output": {"entities": {"gene": [{"text": "BMP4", "start": 30, "end": 34}], "disease": [{"text": "nervous system", "start": 149, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We observe a significant interaction of rs671 and alcohol consumption on AAT levels.", "output": {"entities": {"gene": [{"text": "AAT", "start": 73, "end": 76}], "disease": [{"text": "alcohol consumption", "start": 50, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "LSD1 may be a novel therapeutic target and prognostic tool for gallbladder cancer.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 0, "end": 4}], "disease": [{"text": "gallbladder cancer", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Two distinct deleterious mutations (c. 502A & gt; G and c. 666_676 + 1del12) identified in an unrelated PN patient confirmed that the C16orf57 gene is responsible for PN.", "output": {"entities": {"gene": [{"text": "C16orf57", "start": 134, "end": 142}], "disease": [{"text": "PN", "start": 104, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C16orf57", "start": 134, "end": 142}, "tail": {"text": "PN", "start": 104, "end": 106}}]}}, "schema": []}
{"input": "Reduced expression of human equilibrative nucleoside transporter 1 (hENT1) results from nitric oxide (NO)-dependent reduced SLC29A1 transcriptional activity in human umbilical vein endothelial cells (HUVECs) from gestational diabetes.", "output": {"entities": {"gene": [{"text": "SLC29A1", "start": 124, "end": 131}], "disease": [{"text": "diabetes", "start": 225, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that forced expression of RALT in the murine heart would protect the heart against cardiac hypertrophy in vivo.", "output": {"entities": {"gene": [{"text": "RALT", "start": 42, "end": 46}], "disease": [{"text": "cardiac hypertrophy", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The prion protein (PrPC) has a primary role in the pathogenesis of transmissible spongiform encephalopathies, which causes prion disorders partially due to Ca2 + dysregulation.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 156, "end": 159}], "disease": [{"text": "transmissible spongiform encephalopathies", "start": 67, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our data reveal novel Egr-1 signaling that mediates the NF-& #954; B and AP-1 pathways to orchestrate PM-induced pulmonary inflammation and mucus hyperproduction, suggesting that Egr-1 inhibition could be an effective therapeutic approach for airway disorders or disease exacerbations induced by airborne particulate pollution.", "output": {"entities": {"gene": [{"text": "Egr-1", "start": 38, "end": 43}], "disease": [{"text": "pulmonary inflammation", "start": 129, "end": 151}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Egr-1", "start": 38, "end": 43}, "tail": {"text": "pulmonary inflammation", "start": 129, "end": 151}}]}}, "schema": []}
{"input": "We have, therefore, analysed the association of six single nucleotide polymorphisms (SNPs) within the three genes belonging to the NR4A orphan nuclear receptor family, NR4A1 (rs2603751, rs2701124), NR4A2 (rs12803, rs834835) and NR4A3 (rs1131339, rs1405209), with the degree of smoking in a sample of 204 unrelated schizophrenia patients, which included 126 smokers and 78 non-smokers.", "output": {"entities": {"gene": [{"text": "NR4A1", "start": 168, "end": 173}], "disease": [{"text": "smoking", "start": 277, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "In the present study, a point mutation in exon 7 of the FALDH gene was found in SLS patients of northern Swedish origin.", "output": {"entities": {"gene": [{"text": "FALDH", "start": 56, "end": 61}], "disease": [{"text": "SLS", "start": 80, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FALDH", "start": 56, "end": 61}, "tail": {"text": "SLS", "start": 80, "end": 83}}]}}, "schema": []}
{"input": "Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2.", "output": {"entities": {"gene": [{"text": "CISS2", "start": 91, "end": 96}], "disease": [{"text": "Crisponi syndrome", "start": 24, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CISS2", "start": 91, "end": 96}, "tail": {"text": "Crisponi syndrome", "start": 24, "end": 41}}]}}, "schema": []}
{"input": "We have studied the effect of genetic polymorphisms in the DNA repair genes hOGG1, XRCC1, XRCC3, ERCC2 and the MTHFR gene in the folate metabolism on the frequencies of cells with chromosomal aberrations (CA), chromosome-type aberrations (CSA), chromatid-type aberrations (CTA), chromatid breaks (CTB) and chromatid gaps (CTG) scored in peripheral blood lymphocytes from 651 Norwegian subjects of Caucasian descendant.", "output": {"entities": {"gene": [{"text": "MTHFR gene", "start": 111, "end": 121}], "disease": [{"text": "chromosomal aberrations", "start": 180, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "During the treatment of this episode, he was initially started on sertraline 50 mg/d, which was discontinued within 48 hours, given the lack of depressive symptoms, and risperidone was initiated at 1 mg BID.", "output": {"entities": {"gene": [{"text": "BID", "start": 203, "end": 206}], "disease": [{"text": "depressive symptoms", "start": 144, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "The position of the mutation in PKD1 is predictive for development of intracranial aneurysms (59 mutations are more commonly associated with vascular disease) and is therefore of prognostic importance.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 32, "end": 36}], "disease": [{"text": "vascular disease", "start": 141, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Disease activity was assessed by: SLEDAI, 24 hr-proteinuria, circulating levels of complement C3, anti-double-stranded DNA (anti-dsDNA), β2MG and various pro-inflammatory and anti-inflammatory cytokines (IL-6, IL-8, IL-10, IL-18) measured with a multiplex assay, IFN-α assessed with a reporter gene assay, and a combined expression score of 12 IFN-α inducible genes in peripheral blood mononuclear cells.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 216, "end": 221}], "disease": [{"text": "proteinuria", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder characterized by the expansion of a leukemic stem cell (LSC) clone, carrying a Philadelphia translocation, able to overcome the non-malignant hematopoietic stem cells.", "output": {"entities": {"gene": [{"text": "LSC", "start": 127, "end": 130}], "disease": [{"text": "myeloproliferative disorder", "start": 43, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.", "output": {"entities": {"gene": [{"text": "GRHL2", "start": 8, "end": 13}], "disease": [{"text": "Posterior Polymorphous Corneal Dystrophy", "start": 95, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GRHL2", "start": 8, "end": 13}, "tail": {"text": "Posterior Polymorphous Corneal Dystrophy", "start": 95, "end": 135}}]}}, "schema": []}
{"input": "BACKGROUND: Activating transcription factor-2/Activator protein-1 (AP-1), Signal transducer and activator of transcription-3 and p53 are important regulators of cellular proliferation, apoptosis, differentiation in the pathogenesis of many human tumors, but the expression of phosphorylated (p)-activating transcription factor-2 (p-ATF2), phosphorylated (p)-signal transducer and activator of transcription-3 (p-STAT3) and p53 family (p63 and p73) has not been investigated in cutaneous angiosarcoma (CAS) and pyogenic granuloma (PG) so far.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 412, "end": 417}], "disease": [{"text": "pyogenic granuloma", "start": 510, "end": 528}]}, "relations": {}}, "schema": []}
{"input": "Comprehensive mutational analysis of KCND3-encoded Kv4. 3 (I (to)) was conducted using polymerase chain reaction, denaturing high performance liquid chromatography, and direct sequencing of DNA derived from 86 unrelated BrS1-8 genotype-negative BrS patients.", "output": {"entities": {"gene": [{"text": "KCND3", "start": 37, "end": 42}], "disease": [{"text": "BrS", "start": 220, "end": 223}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCND3", "start": 37, "end": 42}, "tail": {"text": "BrS", "start": 220, "end": 223}}]}}, "schema": []}
{"input": "In contrast, morphologically normal colon from DMH-treated rats and dysplastic aberrant crypt foci were strongly stained, indicating that increased Gal-3 expression is an early event during the neoplastic transformation in colon cells.", "output": {"entities": {"gene": [{"text": "DMH", "start": 47, "end": 50}], "disease": [{"text": "neoplastic transformation", "start": 194, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "In patients with ovarian carcinoma, thyroid transcription factor 1 staining was associated with significantly improved progression-free (P =. 017) and overall survival (P =. 017) using univariate analysis.", "output": {"entities": {"gene": [{"text": "transcription factor 1", "start": 44, "end": 66}], "disease": [{"text": "ovarian carcinoma", "start": 17, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Our p53 data suggest that, at least in this panel of non-isogeneic TGCT cell lines, hypersensitivity to therapeutic agents is not associated with p53 status.", "output": {"entities": {"gene": [{"text": "p53", "start": 4, "end": 7}], "disease": [{"text": "hypersensitivity", "start": 84, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The study aimed to evaluate the levels of adiponectin (ADP), adipocyte fatty acid binding protein (A-FABP), fibroblast growth factor (FGF 21), and selected proinflammatory markers during the early stage of acute pancreatitis.", "output": {"entities": {"gene": [{"text": "ADP", "start": 55, "end": 58}], "disease": [{"text": "acute pancreatitis", "start": 206, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "CD77 and/or SLT-1 binding was detected by flow cytometry and immunocytochemistry on lymphoma and breast cancer cells recovered from biopsies of primary human cancers as well as on B cells or plasma cells present in blood/bone marrow samples of multiple myeloma patients.", "output": {"entities": {"gene": [{"text": "SLT", "start": 12, "end": 15}], "disease": [{"text": "cancers", "start": 158, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that overexpression of SOD1 in donor hearts would suppress ischemia-reperfusion injury and thereby reduce GCAD.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 39, "end": 43}], "disease": [{"text": "ischemia-reperfusion injury", "start": 75, "end": 102}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD1", "start": 39, "end": 43}, "tail": {"text": "ischemia-reperfusion injury", "start": 75, "end": 102}}]}}, "schema": []}
{"input": "We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3.", "output": {"entities": {"gene": [{"text": "DSP", "start": 108, "end": 111}], "disease": [{"text": "sudden cardiac death", "start": 79, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DSP", "start": 108, "end": 111}, "tail": {"text": "sudden cardiac death", "start": 79, "end": 99}}]}}, "schema": []}
{"input": "DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.", "output": {"entities": {"gene": [{"text": "FOXO4", "start": 157, "end": 162}], "disease": [{"text": "hypoxia", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that inactivation of LRP-DIT occurs in at least 40% of NSCLC lines and thus may play an important role in tumorigenesis of NSCLCs.", "output": {"entities": {"gene": [{"text": "LRP-DIT", "start": 38, "end": 45}], "disease": [{"text": "tumorigenesis", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The combined effects between the TNF gene and smoking on gastric cancer risk were also evaluated.", "output": {"entities": {"gene": [{"text": "TNF gene", "start": 33, "end": 41}], "disease": [{"text": "smoking", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "There was no association between RBP4 levels and whole body insulin sensitivity measured with either the euglycemic insulin clamp or OGTT, basal hepatic glucose production rates, and the hepatic insulin resistance index.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 33, "end": 37}], "disease": [{"text": "insulin sensitivity", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Chromosome 17q11-q21 is a region of the genome likely to harbor susceptibility to autism (MIM (209850)) based on earlier evidence of linkage to the disorder.", "output": {"entities": {"gene": [{"text": "MIM", "start": 90, "end": 93}], "disease": [{"text": "autism", "start": 82, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Both HCV-specific IL-10 and IFNgamma responses were detected early within 1-2 months of acute clinical hepatitis C. However, only HCV-specific IL-10 response correlated with elevated liver enzymes, increased viremia and suppressed HCV-specific CD4 (+) T-cell proliferation in acute infection.", "output": {"entities": {"gene": [{"text": "CD4", "start": 244, "end": 247}], "disease": [{"text": "viremia", "start": 208, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have investigated the hyperinsulinaemia/hyperglycaemia-induced epigenetic changes and alteration of Fbn1 (fibrillin 1) and Col3A1 (collagen type & #160; III & #945; 1) gene expression.", "output": {"entities": {"gene": [{"text": "Col3A1", "start": 148, "end": 154}], "disease": [{"text": "hyperinsulinaemia", "start": 47, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Col3A1", "start": 148, "end": 154}, "tail": {"text": "hyperinsulinaemia", "start": 47, "end": 64}}]}}, "schema": []}
{"input": "Identification of retroviral RNA in the cerebrospinal fluids and brains of individuals with schizophrenia indicated that the transcriptional activation of the HERV-W elements within the central nervous system could be associated with the brain diseases.", "output": {"entities": {"gene": [{"text": "HERV-W", "start": 159, "end": 165}], "disease": [{"text": "brain diseases", "start": 238, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Mutations at codon 12 of Ki-ras or N-ras were detected in three cases (9%): one of six cases of refractory anemia with excess blasts (RAEB) and two of nine cases of chronic myelomonocytic leukemia (CMML).", "output": {"entities": {"gene": [{"text": "Ki-ras", "start": 25, "end": 31}], "disease": [{"text": "refractory anemia with excess blasts", "start": 96, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In lung adenocarcinoma patients, CAV-1 expression was positively correlated with lymph node metastasis and cancer stage.", "output": {"entities": {"gene": [{"text": "CAV", "start": 33, "end": 36}], "disease": [{"text": "lung adenocarcinoma", "start": 3, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "To address this issue, an association study using a 9-bp insertional polymorphism, AGC AGC GGC, between nucleotides 6979 and 6998 of the POMC gene, was performed in 380 (185 girls) Italian obese children and adolescents.", "output": {"entities": {"gene": [{"text": "GGC", "start": 91, "end": 94}], "disease": [{"text": "obese", "start": 189, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Foxj1 deficiency resulted in multiorgan systemic inflammation, exaggerated Th1 cytokine production, and T cell proliferation in autologous mixed lymphocyte reactions.", "output": {"entities": {"gene": [{"text": "Th1", "start": 75, "end": 78}], "disease": [{"text": "inflammation", "start": 49, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We report here the functional analysis of the NUP98-coiled-coil domain-containing protein 28A (NUP98-CCDC28A) fusion protein, expressed as the consequence of a recurrent t (6; 11) (q24. 1; p15. 5) translocation.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 46, "end": 51}], "disease": [{"text": "translocation", "start": 197, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Ratio of surviving neurons (median, [range]) in hippocampal CA1 seven days after ischemia was significantly higher in the ONO-5046 5 mg/kg (31% [12-57%]), and 10 mg/kg groups (69% [39-76%]) than in the control group (3. 2% [0-10%]).", "output": {"entities": {"gene": [{"text": "CA1", "start": 60, "end": 63}], "disease": [{"text": "ischemia", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "However, TGIF1 mutations have also been reported in normal individuals and in patients with mental retardation or showing a very mild phenotype, suggesting the characteristic of incomplete penetrance and variable expressivity.", "output": {"entities": {"gene": [{"text": "TGIF1", "start": 9, "end": 14}], "disease": [{"text": "variable expressivity", "start": 204, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene.", "output": {"entities": {"gene": [{"text": "CIAS1", "start": 147, "end": 152}], "disease": [{"text": "CINCA", "start": 90, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CIAS1", "start": 147, "end": 152}, "tail": {"text": "CINCA", "start": 90, "end": 95}}]}}, "schema": []}
{"input": "We study the effect of EMB on mitochondrial metabolism in fibroblasts from controls and from a man carrying an OPA1 mutation, in whom the drug induced the development of autosomal dominant optic atrophy (ADOA).", "output": {"entities": {"gene": [{"text": "EMB", "start": 23, "end": 26}], "disease": [{"text": "autosomal dominant optic atrophy", "start": 170, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "AMP-activated protein kinase (AMPK) regulatory gamma2 subunit (PRKAG2) mutations cause a human cardiomyopathy with cardiac hypertrophy, preexcitation, and glycogen deposition.", "output": {"entities": {"gene": [{"text": "PRKAG2", "start": 63, "end": 69}], "disease": [{"text": "cardiac hypertrophy", "start": 115, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, blunted beta2 adrenergic-mediated myocardial contractile response in patients with Ile-164 variant seems to adversely modulate the course of congestive heart failure.", "output": {"entities": {"gene": [{"text": "beta2", "start": 21, "end": 26}], "disease": [{"text": "congestive heart failure", "start": 154, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Therefore, Cp may protect neuronal cells from oxidative stress-induced neurodegeneration.", "output": {"entities": {"gene": [{"text": "Cp", "start": 11, "end": 13}], "disease": [{"text": "neurodegeneration", "start": 71, "end": 88}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Cp", "start": 11, "end": 13}, "tail": {"text": "neurodegeneration", "start": 71, "end": 88}}]}}, "schema": []}
{"input": "In addition, LTR-SHH skin displays the gene expression abnormalities previously described for human BCCs, including decreased BP180/BPAG2 and laminin 5 adhesion proteins and expression of basal epidermal keratins.", "output": {"entities": {"gene": [{"text": "SHH", "start": 17, "end": 20}], "disease": [{"text": "adhesion", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened.", "output": {"entities": {"gene": [{"text": "ANT1", "start": 37, "end": 41}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Analysis of p27 and Ki-67 expression levels might indicate that low proliferating activity of desmoid fibroblasts is connected with another mechanism than the one, in which p27 takes part.", "output": {"entities": {"gene": [{"text": "p27", "start": 12, "end": 15}], "disease": [{"text": "desmoid", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "According to this model, most of the mutations known to affect residues of the NBD are clustered on one side of this domain in a region predicted to participate in intermolecular contacts, suggesting that this model is likely to be biologically relevant and that defects in nucleotide binding, nucleotide hydrolysis, or protein oligomerization may lead to the functional dysregulation of cryopyrin in the MWS, FCU, and CINCA/NOMID disorders.", "output": {"entities": {"gene": [{"text": "cryopyrin", "start": 388, "end": 397}], "disease": [{"text": "CINCA/NOMID", "start": 419, "end": 430}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cryopyrin", "start": 388, "end": 397}, "tail": {"text": "CINCA/NOMID", "start": 419, "end": 430}}]}}, "schema": []}
{"input": "To investigate the association between osteoprotegerin (OPG), receptor activator of nuclear factor-kappaB (RANK), and RANK ligand (RANKL) gene polymorphisms and circulating OPG, soluble RANKL (sRANKL) levels, and bone mineral density (BMD) in Korean postmenopausal women.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 131, "end": 136}], "disease": [{"text": "bone mineral density", "start": 213, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "We also analyzed WIF-1 and SFRPs promoter methylations in 46 mesothelioma tissues, 8 mesothelioma cell lines by methylation-specific polymerase chain reaction (MSP).", "output": {"entities": {"gene": [{"text": "MSP", "start": 160, "end": 163}], "disease": [{"text": "mesothelioma", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The role of HLA DQ2 and DQ8 in dissecting celiac-like disease in common variable immunodeficiency.", "output": {"entities": {"gene": [{"text": "DQ2", "start": 16, "end": 19}], "disease": [{"text": "common variable immunodeficiency", "start": 65, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "We verified that the silence of RACK1 gene in two OSCC cell lines could not only inhibit cell proliferation but also decrease the invasion, migration and adhesion capability of the tumor cells.", "output": {"entities": {"gene": [{"text": "RACK1 gene", "start": 32, "end": 42}], "disease": [{"text": "adhesion", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "TSG-deficient thymus was atrophic, and phosphorylation of SMAD1 was augmented in the thymocytes, suggesting enhanced BMP-4 signaling in the thymus.", "output": {"entities": {"gene": [{"text": "TSG", "start": 0, "end": 3}], "disease": [{"text": "atrophic", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Dysbindin is widely expressed in the human brain and binds to the dystrophin-associated protein complex (DPC) which appears to be involved in signal transduction pathways, which have been repeatedly investigated and described as altered or disturbed in affective disorders [McLeod et al.", "output": {"entities": {"gene": [{"text": "Dysbindin", "start": 0, "end": 9}], "disease": [{"text": "affective disorders", "start": 253, "end": 272}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dysbindin", "start": 0, "end": 9}, "tail": {"text": "affective disorders", "start": 253, "end": 272}}]}}, "schema": []}
{"input": "Incubation with trichostatin A (TSA), a histone deacetylase inhibitor, induced acetylation of histone 4 of the GluR2 locus in glioma cells, leading to an upregulation of GluR2 expression.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 111, "end": 116}], "disease": [{"text": "glioma", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "MiR-195 affects cell migration and cell proliferation by down-regulating DIEXF in Hirschsprung' s disease.", "output": {"entities": {"gene": [{"text": "MiR-195", "start": 0, "end": 7}], "disease": [{"text": "Hirschsprung' s disease", "start": 82, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MiR-195", "start": 0, "end": 7}, "tail": {"text": "Hirschsprung' s disease", "start": 82, "end": 105}}]}}, "schema": []}
{"input": "SNP rs761142 T > G, in glutamate cysteine ligase catalytic subunit (GCLC), was significantly associated with SMX-induced hypersensitivity, with an adjusted p value of 0. 045.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 68, "end": 72}], "disease": [{"text": "hypersensitivity", "start": 121, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We found that AAV-mediated overexpression of NPY in the DMH of lean rats increased food intake and body weight, and exacerbated high-fat diet-induced obesity.", "output": {"entities": {"gene": [{"text": "AAV", "start": 14, "end": 17}], "disease": [{"text": "body weight", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "There was no evidence for interaction between the polymorphisms and alcohol intake on GGT and ALT levels.", "output": {"entities": {"gene": [{"text": "GGT", "start": 86, "end": 89}], "disease": [{"text": "alcohol intake", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Ubiquitin-positive, tau-negative, frontotemporal dementia (FTD) is caused by null mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency mechanism.", "output": {"entities": {"gene": [{"text": "HUGO", "start": 114, "end": 118}], "disease": [{"text": "frontotemporal dementia", "start": 34, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Absent immuno-expression of LDH-B protein (& lt; 10% cells stained), was seen in 23/26 (88%) breast cancer cases, and in 4/8 cases of adjacent ductal carcinoma in situ lesions.", "output": {"entities": {"gene": [{"text": "LDH-B", "start": 28, "end": 33}], "disease": [{"text": "ductal carcinoma in situ", "start": 143, "end": 167}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LDH-B", "start": 28, "end": 33}, "tail": {"text": "ductal carcinoma in situ", "start": 143, "end": 167}}]}}, "schema": []}
{"input": "To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) mainly characterized by recurrent intracellular mycobacterium or/and salmonella infections, we comprehensively investigated IL12/23-IFN-γ signaling, candidate genetic sequencings or/and protein expressions of IL12RB1, IFNRG1, IL12p40, IFNRG2, STAT1, IKKA, NEMO, CYBB and IRF8 in four patients.", "output": {"entities": {"gene": [{"text": "CYBB", "start": 464, "end": 468}], "disease": [{"text": "sporadic", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The novel biomarker panel obtained by combining α-1-antichymotrypsin (AACT), Thrombospondin-1 (THBS1) and this variant peptide showed an excellent diagnostic performance in discriminating pancreatic cancer from healthy controls (AUC = 0. 98) and chronic pancreatitis (AUC = 0. 90).", "output": {"entities": {"gene": [{"text": "AACT", "start": 70, "end": 74}], "disease": [{"text": "chronic pancreatitis", "start": 246, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "In mouse brain, PRRX1 mRNA was detected in non-dividing OPCs and is upregulated in OPCs following demyelination.", "output": {"entities": {"gene": [{"text": "PRRX1", "start": 16, "end": 21}], "disease": [{"text": "demyelination", "start": 98, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRRX1", "start": 16, "end": 21}, "tail": {"text": "demyelination", "start": 98, "end": 111}}]}}, "schema": []}
{"input": "Polymerase chain reaction was used to amplify the DNA fragments in promoter-75 G > A of ApoAI gene and EcoR I, Xba I and 3'-VNTR of ApoB gene in osteonecrosis patients and healthy controls.", "output": {"entities": {"gene": [{"text": "ApoB gene", "start": 132, "end": 141}], "disease": [{"text": "osteonecrosis", "start": 145, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Together these studies identify PTHrP as a potential mediator of the inflammatory and fibrogenic responses associated with alcoholic pancreatitis.", "output": {"entities": {"gene": [{"text": "PTHrP", "start": 32, "end": 37}], "disease": [{"text": "alcoholic pancreatitis", "start": 123, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTHrP", "start": 32, "end": 37}, "tail": {"text": "alcoholic pancreatitis", "start": 123, "end": 145}}]}}, "schema": []}
{"input": "NF-kappaB is activated in experimental models of renal injury, and in vitro studies also suggest that proteinuria and angiotensin II could be important NF-kappaB activators.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 0, "end": 9}], "disease": [{"text": "proteinuria", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To identify genes that affect these traits and disorders, we looked for association between markers in candidate genes (apolipoprotein AII (apo AII), apolipoprotein AI-CIII-AIV gene cluster (apo AI-CIII-AIV), apolipoprotein E (apo E), cholesteryl ester transfer protein (CETP), cholesterol 7alpha-hydroxylase (CYP7a), hepatic lipase (HL), and microsomal triglyceride transfer protein (MTP)) and known risk factors (triglycerides (Tg), total cholesterol (TC), apolipoprotein AI (apo AI), apolipoprotein AII (apo AII), apolipoprotein B (apo B), body mass index (BMI), blood pressure (BP), leptin, and fasting blood sugar (FBS) levels.)", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 517, "end": 533}], "disease": [{"text": "blood pressure", "start": 566, "end": 580}]}, "relations": {}}, "schema": []}
{"input": "Outcome measures included lifetime history of low back and neck pain (using a range of increasingly stringent definitions), MRI scores of disc degeneration in the lumbar and cervical spine, psychological distress as assessed by the General Health Questionnaire (GHQ), and lifestyle variables assessed by questionnaire.", "output": {"entities": {"gene": [{"text": "MRI", "start": 124, "end": 127}], "disease": [{"text": "neck pain", "start": 59, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "DNAJB11-associated disease is a phenotypic hybrid of ADPKD and ADTKD, characterized by normal-sized cystic kidneys and progressive interstitial fibrosis resulting in late-onset ESRD.", "output": {"entities": {"gene": [{"text": "DNAJB11", "start": 0, "end": 7}], "disease": [{"text": "ESRD", "start": 177, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNAJB11", "start": 0, "end": 7}, "tail": {"text": "ESRD", "start": 177, "end": 181}}]}}, "schema": []}
{"input": "CCDC88A mutations cause PEHO-like syndrome in humans and mouse.", "output": {"entities": {"gene": [{"text": "CCDC88A", "start": 0, "end": 7}], "disease": [{"text": "PEHO-like syndrome", "start": 24, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC88A", "start": 0, "end": 7}, "tail": {"text": "PEHO-like syndrome", "start": 24, "end": 42}}]}}, "schema": []}
{"input": "Glioblastoma is the most common malignant brain tumour, generated by bulk of malignant cancer stem cells, which express various stem cell factors like CD133, BMI1 and nestin.", "output": {"entities": {"gene": [{"text": "BMI1", "start": 158, "end": 162}], "disease": [{"text": "malignant brain tumour", "start": 32, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.", "output": {"entities": {"gene": [{"text": "CBFA1", "start": 8, "end": 13}], "disease": [{"text": "cleidocranial dysplasia", "start": 57, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBFA1", "start": 8, "end": 13}, "tail": {"text": "cleidocranial dysplasia", "start": 57, "end": 80}}]}}, "schema": []}
{"input": "Antigenic peptides have been found associated with heat shock proteins (HSP) including cytoplasmic HSP70 and heat shock cognate protein 70 as well as the endoplasmic reticulum-resident glucose-regulated protein 94.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 99, "end": 104}], "disease": [{"text": "shock", "start": 56, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P.", "output": {"entities": {"gene": [{"text": "TGFA", "start": 135, "end": 139}], "disease": [{"text": "tooth agenesis", "start": 6, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "In this study, to determine whether the CEACAM1 is involved in colorectal tumorigenesis, we have investigated the genetic alterations, including mutations and allelic loss, of the CEACAM1 gene in 17 colonic adenomas and 123 sporadic colorectal cancers.", "output": {"entities": {"gene": [{"text": "CEACAM1 gene", "start": 180, "end": 192}], "disease": [{"text": "tumorigenesis", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Ewing' s sarcoma/primitive neuroectodermal tumor (EWS/PNET) has a characteristic chimeric oncogene EWS-FLI1, which results from chromosomal translocation t (11; 22), that is believed to initiate tumorigenesis of EWS/PNET.", "output": {"entities": {"gene": [{"text": "EWS", "start": 50, "end": 53}], "disease": [{"text": "chromosomal translocation", "start": 128, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Attenuation of renovascular hypertension by cyclooxygenase-2 inhibitor partly through ANP release.", "output": {"entities": {"gene": [{"text": "ANP", "start": 86, "end": 89}], "disease": [{"text": "renovascular hypertension", "start": 15, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "All patients displayed immunophenotypic and intracellular signaling abnormalities within CD34 (+) CD38 (lo) populations, and several karyotype-and genotype-specific surface marker patterns were identified.", "output": {"entities": {"gene": [{"text": "CD38", "start": 98, "end": 102}], "disease": [{"text": "abnormalities", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.", "output": {"entities": {"gene": [{"text": "TRPM6", "start": 32, "end": 37}], "disease": [{"text": "hypomagnesemia with secondary hypocalcemia", "start": 45, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPM6", "start": 32, "end": 37}, "tail": {"text": "hypomagnesemia with secondary hypocalcemia", "start": 45, "end": 87}}]}}, "schema": []}
{"input": "We report evidence that the lipid transporter gene ABCA13 is a susceptibility factor for both schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "ABCA13", "start": 51, "end": 57}], "disease": [{"text": "bipolar disorder", "start": 112, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCA13", "start": 51, "end": 57}, "tail": {"text": "bipolar disorder", "start": 112, "end": 128}}]}}, "schema": []}
{"input": "The identification of UBE3A as an ASPM interactor is not surprising as more than 80% of Angelman syndrome patients have microcephaly.", "output": {"entities": {"gene": [{"text": "UBE3A", "start": 22, "end": 27}], "disease": [{"text": "microcephaly", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: We investigated the association of vascular endothelial growth factor (VEGF) gene polymorphism with recurrent spontaneous miscarriage (RSM).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 83, "end": 87}], "disease": [{"text": "miscarriage", "start": 134, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "DHA and EPA were both observed to enhance membrane bleb formation and also to induce the expression of p21.", "output": {"entities": {"gene": [{"text": "EPA", "start": 8, "end": 11}], "disease": [{"text": "bleb", "start": 51, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The number of putative epitopes within the whole MTB genome which could be bound by any HLA-DR allele (HLA-DR immunome of MTB) was 405, 422 out of 1, 304, 277 possible 9-mers i. e., 31. 08% of the global capability, instead of the expected 35%.", "output": {"entities": {"gene": [{"text": "MTB", "start": 49, "end": 52}], "disease": [{"text": "mers", "start": 170, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Children with TPMT * 3A and * 3C had significantly lower leukocyte and neutrophil counts and percentage of target 6-MP dosage, and longer periods with ≥ grade 2 infections, ≥ grade 2 liver toxicity, and chemotherapy interruptions than the children with wild-type TPMT during the first 24 weeks of maintenance therapy.", "output": {"entities": {"gene": [{"text": "TPMT", "start": 14, "end": 18}], "disease": [{"text": "infections", "start": 161, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to determine whether production of liver metastasis by human colon carcinoma (HCC) cells depends on the response of tumor cells to organ-derived growth factors.", "output": {"entities": {"gene": [{"text": "HCC", "start": 108, "end": 111}], "disease": [{"text": "liver metastasis", "start": 65, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In addition to this profoundly debilitating effect on genetic integrity, APOBEC3G/F also appear to inhibit viral DNA synthesis by impeding the translocation of reverse transcriptase along template RNA.", "output": {"entities": {"gene": [{"text": "APOBEC3G", "start": 73, "end": 81}], "disease": [{"text": "translocation", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Using antisense and short hairpin RNA-mediated gene expression knockdown, array analyses, chromatin immunoprecipitation methods, and reexpression studies, we show that caveolin-1 (CAV1) is a new direct target of EWS/FLI-1 that is overexpressed in ESFT cell lines and tumor specimens and is necessary for ESFT tumorigenesis.", "output": {"entities": {"gene": [{"text": "CAV1", "start": 180, "end": 184}], "disease": [{"text": "tumorigenesis", "start": 309, "end": 322}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that PAR-1 contributes to the development of skin fibrosis and we suggest that PAR-1 potentiates the fibrotic response mainly by inducing fibroblast proliferation and ECM production.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 29, "end": 34}], "disease": [{"text": "fibrosis", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Because nicotine dependence (ND) is highly comorbid with schizophrenia and other substance abuse, we examined the association of HINT1 with ND.", "output": {"entities": {"gene": [{"text": "HINT1", "start": 129, "end": 134}], "disease": [{"text": "schizophrenia", "start": 57, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HINT1", "start": 129, "end": 134}, "tail": {"text": "schizophrenia", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "Similarly, cardiomyocyte-specific Txnip deletion reduced infarct size after reversible coronary ligation.", "output": {"entities": {"gene": [{"text": "Txnip", "start": 34, "end": 39}], "disease": [{"text": "infarct", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The C825T polymorphism of the beta-3 subunit of the protein G (GNB3) has been related to an increased activity of the Na +/H + exchanger (NHE-1) through the synthesis of an anomalous hyperactive protein.", "output": {"entities": {"gene": [{"text": "beta-3", "start": 30, "end": 36}], "disease": [{"text": "hyperactive", "start": 183, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "This finding suggests that MIF may be involved in bladder inflammation and may have a role in the peripheral and central nervous system pathways that regulate bladder reflexes in response to bladder inflammation.", "output": {"entities": {"gene": [{"text": "MIF", "start": 27, "end": 30}], "disease": [{"text": "bladder inflammation", "start": 50, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 46, "end": 57}], "disease": [{"text": "restrictive cardiomyopathy", "start": 79, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle' s loop (tALH), causing renal magnesium wasting and hypercalciuria.", "output": {"entities": {"gene": [{"text": "MIM", "start": 68, "end": 71}], "disease": [{"text": "nephrocalcinosis", "start": 43, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Several lines of evidence support our hypothesis; higher value of IL-6 was recorded in children with idiopathic osteoporosis than in healthy controls; TNF-alpha knock-out mice do not lose bone after ovariectomy; polymorphism of TNFRSF1B gene which encodes 75 Kd TNF receptor is associated with BMD; treatment with anti-TNF-alpha antibody exert beneficial effect on bone metabolism in patients with rheumatoid arthritis and finally, raloxifene inhibit osteoclast activity by reducing TNF-alpha and IL-6 synthesis.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 151, "end": 160}], "disease": [{"text": "idiopathic osteoporosis", "start": 101, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Taken together, for the first time, we demonstrate that remodeled collagen IV is a potent activator of DDR1 and AKT that also modulates both migration and adhesion of myeloid leukemia cells.", "output": {"entities": {"gene": [{"text": "AKT", "start": 112, "end": 115}], "disease": [{"text": "adhesion", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Specific expression of these cytoplasmic variants of MDC2 in human brain and its malignancies is discussed.", "output": {"entities": {"gene": [{"text": "MDC2", "start": 53, "end": 57}], "disease": [{"text": "malignancies", "start": 81, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "An ERSE in the GRP78 gene not previously shown to be required for induction by other ER stresses was found to bind ATF6 and to be critical for maximal ischemia-mediated GRP78 promoter induction.", "output": {"entities": {"gene": [{"text": "ATF6", "start": 115, "end": 119}], "disease": [{"text": "ischemia", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "P190 BCR/ABL induced lymphoid leukemia with shorter latency than P210 or P230.", "output": {"entities": {"gene": [{"text": "P230", "start": 73, "end": 77}], "disease": [{"text": "lymphoid leukemia", "start": 21, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "After short-term culturing, none of the samples displayed any t (11; 22) (q24; q12), the translocation characteristically giving rise to the EWS/FLI1 fusion, nor any other type of rearrangement of 11q24 or 22q12.", "output": {"entities": {"gene": [{"text": "EWS", "start": 141, "end": 144}], "disease": [{"text": "translocation", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "P115 and MIF were both specifically expressed in gastric cancer tissues compared with normal gastric mucosa (both P < 0. 01).", "output": {"entities": {"gene": [{"text": "MIF", "start": 9, "end": 12}], "disease": [{"text": "gastric cancer", "start": 49, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.", "output": {"entities": {"gene": [{"text": "fumarylacetoacetase", "start": 62, "end": 81}], "disease": [{"text": "tyrosinemia type I", "start": 123, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fumarylacetoacetase", "start": 62, "end": 81}, "tail": {"text": "tyrosinemia type I", "start": 123, "end": 141}}]}}, "schema": []}
{"input": "We investigated the contribution of a functional SNP in the promoter of the SERPINH1 gene, enriched among those of African ancestry, to preterm premature rupture of membranes (PPROM), the leading identifiable cause of preterm birth.", "output": {"entities": {"gene": [{"text": "SERPINH1 gene", "start": 76, "end": 89}], "disease": [{"text": "preterm birth", "start": 218, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Abnormalities in the GHR produce an autosomal recessive form of GH resistance, the Laron syndrome, characterized by growth failure and the clinical appearance of severe GH deficiency despite elevated circulating GH levels.", "output": {"entities": {"gene": [{"text": "GHR", "start": 21, "end": 24}], "disease": [{"text": "Laron syndrome", "start": 83, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GHR", "start": 21, "end": 24}, "tail": {"text": "Laron syndrome", "start": 83, "end": 97}}]}}, "schema": []}
{"input": "The birth weight lowering C-allele of rs900400 near LEKR1 and CCNL1 associates with elevated insulin release following an oral glucose challenge.", "output": {"entities": {"gene": [{"text": "LEKR1", "start": 52, "end": 57}], "disease": [{"text": "birth weight", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.", "output": {"entities": {"gene": [{"text": "EVC", "start": 33, "end": 36}], "disease": [{"text": "Ellis-van Creveld syndrome", "start": 52, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EVC", "start": 33, "end": 36}, "tail": {"text": "Ellis-van Creveld syndrome", "start": 52, "end": 78}}]}}, "schema": []}
{"input": "Experiments were undertaken to study whether progressive processes of bovine serum albumin (BSA) nephritis in C57BL/B10-BR mice could be prevented by the treatment with methylprednisolone (MPSL), a glucocorticoid.", "output": {"entities": {"gene": [{"text": "B10", "start": 116, "end": 119}], "disease": [{"text": "nephritis", "start": 97, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form.", "output": {"entities": {"gene": [{"text": "ED1", "start": 72, "end": 75}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 9, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ED1", "start": 72, "end": 75}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 9, "end": 42}}]}}, "schema": []}
{"input": "The results demonstrate that EBV and CMV infections induce quantitatively and qualitatively different CD8 + T-cell responses in advanced aging.", "output": {"entities": {"gene": [{"text": "CD8", "start": 102, "end": 105}], "disease": [{"text": "aging", "start": 137, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that the recombinational repair gene RAD51B on chromosome 14q23-24 is the preferential translocation partner of HMGIC in uterine leiomyomas.", "output": {"entities": {"gene": [{"text": "RAD51B", "start": 53, "end": 59}], "disease": [{"text": "translocation", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "While viraemia rebounded to 4. 8 and 4. 6 log (10)/mL at week 12 and 36, respectively, CD4 continued to increase to 136 cells/mm (3) at week 36.", "output": {"entities": {"gene": [{"text": "CD4", "start": 87, "end": 90}], "disease": [{"text": "viraemia", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "In 52 cervical cancer patients treated with neoadjuvant chemotherapy, we investigated whether the levels of phosphorylated Wee1 (pWee1), a key G2/M checkpoint kinase, and γ-H2AX, a marker of DNA double-strand breaks, discriminated between patients with a pathological complete response (pCR) and those with residual disease.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 173, "end": 177}], "disease": [{"text": "residual disease", "start": 307, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "The systolic blood pressure (SBP), but not the diastolic blood pressure (DBP), was significantly lower in our female vs male group.", "output": {"entities": {"gene": [{"text": "DBP", "start": 73, "end": 76}], "disease": [{"text": "systolic blood pressure", "start": 4, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Effect of the functional VEGFA-583C/T variant on vascular endothelial growth factor levels and the risk of recurrent spontaneous miscarriage.", "output": {"entities": {"gene": [{"text": "VEGFA", "start": 25, "end": 30}], "disease": [{"text": "miscarriage", "start": 129, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Increased MMA concentration and body mass index are associated with spontaneous abortion in Brazilian women: a pilot study.", "output": {"entities": {"gene": [{"text": "MMA", "start": 10, "end": 13}], "disease": [{"text": "body mass index", "start": 32, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The identification of additional CF-causing mutants with normal Cl-channel activity indicates, however, that other CFTR-dependent processes contribute to the disease.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 115, "end": 119}], "disease": [{"text": "CF", "start": 33, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 115, "end": 119}, "tail": {"text": "CF", "start": 33, "end": 35}}]}}, "schema": []}
{"input": "CDNA expression array analysis revealed increased manganese superoxide dismutase (SOD-2) expression in the mac25/IGFBP-rP1-transfected M12 human prostate cancer cell line compared to M12 control cells.", "output": {"entities": {"gene": [{"text": "SOD-2", "start": 82, "end": 87}], "disease": [{"text": "prostate cancer", "start": 145, "end": 160}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD-2", "start": 82, "end": 87}, "tail": {"text": "prostate cancer", "start": 145, "end": 160}}]}}, "schema": []}
{"input": "D rats displayed larger infarct size accompanied by decreased phosphorylation of Akt, STAT3 and decreased cardiac nitric oxide (NO) and APN levels.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 86, "end": 91}], "disease": [{"text": "infarct", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "With four regression models obtained, two SNPs rs9468925 in HLA-C/HLA-B and rs2858881 in HLA-DQA2 were repeatedly selected in all models, suggesting that multiple loci outside PSOR1 locus were associated with psoriasis.", "output": {"entities": {"gene": [{"text": "HLA-DQA2", "start": 89, "end": 97}], "disease": [{"text": "regression", "start": 10, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Our analysis identified several novel dysregulated genes and miRNAs in ASD compared with controls, including HEY1, SOX9, miR-486 and miR-181b.", "output": {"entities": {"gene": [{"text": "HEY1", "start": 109, "end": 113}], "disease": [{"text": "ASD", "start": 71, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HEY1", "start": 109, "end": 113}, "tail": {"text": "ASD", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "All PGAs in LS patients were MSI-high and lost expression of mismatch-repair proteins (MLH1/PMS2 in 2 cases and MSH2/MSH6 in 1 case), whereas none of the 14 sporadic PGAs was MSI-high or had lost expression of mismatch-repair proteins.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 112, "end": 116}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "\" Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density \".", "output": {"entities": {"gene": [{"text": "RANKL", "start": 45, "end": 50}], "disease": [{"text": "bone mineral density", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 23, "end": 27}], "disease": [{"text": "aniridia", "start": 91, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX6", "start": 23, "end": 27}, "tail": {"text": "aniridia", "start": 91, "end": 99}}]}}, "schema": []}
{"input": "We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 24, "end": 28}], "disease": [{"text": "binge eating disorder", "start": 74, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The present study evaluates the concurrent influence of age and body mass index (BMI) on GGT in a sample of 133 high functioning young men, with detailed assessment of the pattern of alcohol use at ages 20 [time 1 (T1)], 30 [time 2 (T2)], and 35 [time 3 (T3)].", "output": {"entities": {"gene": [{"text": "GGT", "start": 89, "end": 92}], "disease": [{"text": "alcohol use", "start": 183, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "A consistent significant association was detected between the FSHR Ser680 allele and lower total testes volume in both, the Baltic cohort (p = 0. 010, effect =-1. 16 mL) and Estonian idiopathic infertility group (p = 0. 007, effect =-1. 77 mL).", "output": {"entities": {"gene": [{"text": "FSHR", "start": 62, "end": 66}], "disease": [{"text": "infertility", "start": 194, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Nrf2 regulates hyperoxia-induced Nox4 expression in human lung endothelium: identification of functional antioxidant response elements on the Nox4 promoter.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 0, "end": 4}], "disease": [{"text": "hyperoxia", "start": 15, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Induction of the interleukin-2/15 receptor beta-chain by the EWS-WT1 translocation product.", "output": {"entities": {"gene": [{"text": "EWS", "start": 61, "end": 64}], "disease": [{"text": "translocation", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Progestins activate the AKT pathway in leiomyoma cells and promote survival.", "output": {"entities": {"gene": [{"text": "AKT", "start": 24, "end": 27}], "disease": [{"text": "leiomyoma", "start": 39, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Hepatocerebral MDS, caused by mutations in DGUOK, MPV17, POLG, or C10orf2, commonly have an early-onset liver dysfunction and neurological involvement.", "output": {"entities": {"gene": [{"text": "MPV17", "start": 50, "end": 55}], "disease": [{"text": "liver dysfunction", "start": 104, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Nine myeloid leukemia cells lines and four nonmyeloid leukemia cell lines were incubated with 0. 7 nmol/L of 125I-GM-CSF in the presence or absence of excess cold GM-CSF and bound label measured.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 114, "end": 120}], "disease": [{"text": "cold", "start": 158, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Our findings may also implicate the whole family of HERG channels (HERG1, HERG2 and HERG3) in the pathogenesis of psychosis and its treatment.", "output": {"entities": {"gene": [{"text": "HERG2", "start": 74, "end": 79}], "disease": [{"text": "psychosis", "start": 114, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HERG2", "start": 74, "end": 79}, "tail": {"text": "psychosis", "start": 114, "end": 123}}]}}, "schema": []}
{"input": "Morpholino knockdown of the zebrafish homologue dachsous1b resulted in a cardiac atrioventricular canal defect that could be rescued by wild-type human DCHS1, but not by DCHS1 messenger RNA with the familial mutation.", "output": {"entities": {"gene": [{"text": "DCHS1", "start": 152, "end": 157}], "disease": [{"text": "atrioventricular canal defect", "start": 81, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have explored changes in the expression of telomere-associated genes POT1, TIN2, RAP1 and TPP1, in patients with monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM).", "output": {"entities": {"gene": [{"text": "TIN2", "start": 93, "end": 97}], "disease": [{"text": "myeloma", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "CGI in 5' upstream regions of 20 genes, TSPAN-2, AK5, LOC284999, HOXD11, FLJ25161, XT3, PCDH10, PCDHGB6, SIM1, LOC346978, COE2, TDH (FLJ25033), LOC346419, FLJ33790, GJB2, AMN, LOC201164, DLX4, DCC and FOXA2, were found to be methylated in at least one of 8 breast cancer cell lines.", "output": {"entities": {"gene": [{"text": "PCDHGB6", "start": 96, "end": 103}], "disease": [{"text": "breast cancer", "start": 257, "end": 270}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PCDHGB6", "start": 96, "end": 103}, "tail": {"text": "breast cancer", "start": 257, "end": 270}}]}}, "schema": []}
{"input": "These data therefore indicate a common mode of regulation for both p73 forms by hypoxia, resulting in the promotion of angiogenesis and tumor growth, highlighting common functionality of these antagonistic proteins under specific physiological contexts.", "output": {"entities": {"gene": [{"text": "p73", "start": 67, "end": 70}], "disease": [{"text": "hypoxia", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effect of CDH1 3'-UTR + 54C/T single nucleotide polymorphism (SNP) on expression of luciferase reporter gene and its association with susceptibility to cervical cancer.", "output": {"entities": {"gene": [{"text": "UTR", "start": 37, "end": 40}], "disease": [{"text": "cervical cancer", "start": 171, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of Ets-1 markedly enhanced BMP4 promoter activity, while antisense Ets-1 almost completely abolished basal as well as hypoxia-induced BMP4 expression.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 18, "end": 23}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the effects of inflammation on PAK1 signaling and its role in colitis-driven carcinogenesis.", "output": {"entities": {"gene": [{"text": "PAK1", "start": 53, "end": 57}], "disease": [{"text": "inflammation", "start": 37, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "However, the mechanism underlying the down-regulated expression of RhoE in gastric cancer has not been elucidated yet.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 67, "end": 71}], "disease": [{"text": "gastric cancer", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Compared with the other human leukocyte antigen (HLA) genes, few studies have evaluated the role of HLA-DP genes in cervical cancer pathogenesis.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 100, "end": 106}], "disease": [{"text": "cervical cancer", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.", "output": {"entities": {"gene": [{"text": "SURF1", "start": 0, "end": 5}], "disease": [{"text": "Leigh syndrome", "start": 91, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SURF1", "start": 0, "end": 5}, "tail": {"text": "Leigh syndrome", "start": 91, "end": 105}}]}}, "schema": []}
{"input": "We conclude that sporadic renal angiomyolipoma usually have mutations in TSC2, but not TSC1 or RHEB, and have no other common genomic events, among those we searched for.", "output": {"entities": {"gene": [{"text": "RHEB", "start": 95, "end": 99}], "disease": [{"text": "renal angiomyolipoma", "start": 26, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "SELP is located on the surface of endothelial cells and crucial for recruitment, adhesion, and migration of inflammatory cells into the joint.", "output": {"entities": {"gene": [{"text": "SELP", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "NEF3", "start": 186, "end": 190}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NEF3", "start": 186, "end": 190}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Interactive effects between HNF1A variants and weight status on risk of T2DM or dysglycaemic status were determined.", "output": {"entities": {"gene": [{"text": "HNF1A", "start": 28, "end": 33}], "disease": [{"text": "weight", "start": 47, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "p53 deficiency is highly cooperative with both Brca1 and Brca2 in promoting tumorigenesis.", "output": {"entities": {"gene": [{"text": "Brca2", "start": 57, "end": 62}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Given the genomic localization of DOK2, we propose it as an 8p21. 3 haploinsufficient human lung tumor suppressor.", "output": {"entities": {"gene": [{"text": "DOK2", "start": 34, "end": 38}], "disease": [{"text": "lung tumor", "start": 92, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DOK2", "start": 34, "end": 38}, "tail": {"text": "lung tumor", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 32, "end": 39}], "disease": [{"text": "alternating) hemiplegia", "start": 146, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CACNA1A", "start": 32, "end": 39}, "tail": {"text": "alternating) hemiplegia", "start": 146, "end": 169}}]}}, "schema": []}
{"input": "This suggests that GLRA4 is the plausible candidate gene for cognitive impairment, behavioral problems and craniofacial anomalies observed in DGDP084.", "output": {"entities": {"gene": [{"text": "GLRA4", "start": 19, "end": 24}], "disease": [{"text": "behavioral problems", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Human TRPA1 can functionally substitute for worm TRPA-1 in promoting longevity.", "output": {"entities": {"gene": [{"text": "TRPA1", "start": 6, "end": 11}], "disease": [{"text": "worm", "start": 44, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Secretory phospholipase A2 (sPLA2) and matrix metalloproteinase (MMP) inhibitors are potent modulators of inflammation with therapeutic potential, but have limited efficacy in rheumatoid arthritis (RA).", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 28, "end": 33}], "disease": [{"text": "inflammation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Lack of post-ischemic induction of protein inhibitor of neuronal nitric oxide synthase in CA1 pyramidal neurons may result in high nitric oxide synthase activity after global ischemia and could contribute to delayed neuronal cell death.", "output": {"entities": {"gene": [{"text": "CA1", "start": 90, "end": 93}], "disease": [{"text": "ischemia", "start": 175, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE.", "output": {"entities": {"gene": [{"text": "XYLT-II", "start": 55, "end": 62}], "disease": [{"text": "PXE", "start": 110, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XYLT-II", "start": 55, "end": 62}, "tail": {"text": "PXE", "start": 110, "end": 113}}]}}, "schema": []}
{"input": "An analog of coenzyme Q targeted to mitochondria and superoxide dismutase overrode inhibition of MM cell proliferation by alpha-TOS as well as alpha-TOS-induced inhibition of egr-1-dependent transactivation.", "output": {"entities": {"gene": [{"text": "egr-1", "start": 175, "end": 180}], "disease": [{"text": "MM", "start": 97, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "egr-1", "start": 175, "end": 180}, "tail": {"text": "MM", "start": 97, "end": 99}}]}}, "schema": []}
{"input": "In a case-control analysis (controlled for smoking, gender and age) mean bone loss showed a significant difference between the 2 NAT2-type groups (Mann-Whitney test p = 0. 041).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 129, "end": 133}], "disease": [{"text": "smoking", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Similarly, NET-KO mice displayed higher resistance to convulsions engendered by kainic acid.", "output": {"entities": {"gene": [{"text": "NET", "start": 11, "end": 14}], "disease": [{"text": "convulsions", "start": 54, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 0, "end": 4}], "disease": [{"text": "CMTX", "start": 87, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Cx32", "start": 0, "end": 4}, "tail": {"text": "CMTX", "start": 87, "end": 91}}]}}, "schema": []}
{"input": "Our results provide evidence of epigenetic alterations in non-atrophic chronic gastritis and intestinal metaplasia and suggest that hsa-miR-29c and hsa-miR-135b are promising biomarkers of gastric carcinogenesis.", "output": {"entities": {"gene": [{"text": "hsa-miR-29c", "start": 132, "end": 143}], "disease": [{"text": "chronic gastritis", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.", "output": {"entities": {"gene": [{"text": "FOXE3", "start": 36, "end": 41}], "disease": [{"text": "congenital primary aphakia", "start": 61, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXE3", "start": 36, "end": 41}, "tail": {"text": "congenital primary aphakia", "start": 61, "end": 87}}]}}, "schema": []}
{"input": "Perhaps conflicting with common suspicions, the data are not compatible with selective pressures during tumorigenesis promoting the functional loss of BRCA2 and MRE11 in MSI tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 151, "end": 156}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In univariate analysis, visfatin level correlated with levels of GFR (rho =-0. 22; P = 0. 001), interleukin 6 (IL-6; rho = 0. 17; P = 0. 01), high-sensitivity C-reactive protein (rho = 0. 14; rho < 0. 05), and soluble vascular cell adhesion molecule 1 (sVCAM-1; rho = 0. 39; P < 0. 0001), but not total or truncal fat mass, insulin resistance, or hemoglobin A (1c) level.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 159, "end": 177}], "disease": [{"text": "insulin resistance", "start": 324, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "In both models, there is inflammation and evidence of a Th1-like response in the large intestine, characterized by CD4 + T-cell and macrophage infiltrates, and elevated levels of interferon-gamma.", "output": {"entities": {"gene": [{"text": "Th1-like", "start": 56, "end": 64}], "disease": [{"text": "inflammation", "start": 25, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 87, "end": 92}], "disease": [{"text": "sporadic", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "To shed some light on mechanisms with a potential to lead to apoptotic death of human neurones following ischemic/hypoxic injury, we examined the immunoreactivity of hippocampal neurones for PLSCR1, caspase-3, cytochrome c and DNA-fragmentation in 22 individuals with clinically symptomatic cerebral ischemia after cardiac arrest or severe hypotension.", "output": {"entities": {"gene": [{"text": "PLSCR1", "start": 191, "end": 197}], "disease": [{"text": "cardiac arrest", "start": 315, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "Carriers of c. 454-397T/T or c. 454-397T/C genotypes had significantly (p = 0. 002 and p = 0. 004, respectively) higher mean systolic blood pressure (SBP), than carriers of c. 454-397C/C, and a similar relationship was observed for diastolic blood pressure (DBP).", "output": {"entities": {"gene": [{"text": "DBP", "start": 258, "end": 261}], "disease": [{"text": "systolic blood pressure", "start": 125, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Significant associations between different stereotyped HCDR3 sequences and molecular prognostic factors, such as CD38 and ZAP-70 expression, IGHV mutational status and genomic abnormalities were found.", "output": {"entities": {"gene": [{"text": "CD38", "start": 113, "end": 117}], "disease": [{"text": "abnormalities", "start": 176, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Among these, six full-term human placentas, three complete hydatidiform moles, and three choriocarcinoma tumors were examined for expression of the homeobox HOX A11, HOX B6, and HOX C6 gene products, using immunohistochemistry staining methods.", "output": {"entities": {"gene": [{"text": "C6 gene", "start": 182, "end": 189}], "disease": [{"text": "tumors", "start": 105, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Infant NAT2 acetylator status did not appreciably affect susceptibility of the fetus to the teratogenic effects of maternal smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 7, "end": 11}], "disease": [{"text": "smoking", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The proliferation, in vitro tumorigenesis (colony-formation) ability as well as cell migration was significantly suppressed after GBC-SD cells which were infected with ZFX-siRNA-expressing lentivirus (Lv-shZFX).", "output": {"entities": {"gene": [{"text": "ZFX", "start": 168, "end": 171}], "disease": [{"text": "tumorigenesis", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Southern blotting analysis of malignant cell DNAs prepared from a series of acute lymphoblastic leukemia cases with translocations involving chromosome arm 12p, as well as a group of acute myeloid leukemias with various cytogenetic abnormalities, failed to reveal MLF2 gene rearrangements.", "output": {"entities": {"gene": [{"text": "MLF2 gene", "start": 264, "end": 273}], "disease": [{"text": "acute lymphoblastic leukemia", "start": 76, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Recently, the use of whole-genome sequencing has helped to identify a highly recurrent somatic mutation, myeloid differentiation factor 88 [MYD88] L265P in WM.", "output": {"entities": {"gene": [{"text": "MYD88", "start": 140, "end": 145}], "disease": [{"text": "somatic mutation", "start": 87, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The expression of STARD3 was observed in the gastric parietal cells and in gastric tumor tissues and significantly correlated with gender (P = 0. 004), alcohol drinking (P < 0. 001), tumor location (P = 0. 007), histological type (P = 0. 005) and differentiation (P = 0. 023) in GC.", "output": {"entities": {"gene": [{"text": "STARD3", "start": 18, "end": 24}], "disease": [{"text": "alcohol drinking", "start": 152, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that, unlike human cathelicidins and beta-defensins which are inducible peptides that primarily function in response to injury and inflammation, DCD is exclusively part of the constitutive innate defence of human skin.", "output": {"entities": {"gene": [{"text": "DCD", "start": 168, "end": 171}], "disease": [{"text": "inflammation", "start": 154, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemically, strongly positive staining of OPG was found in 65% (67/103) of gastric carcinomas, whereas OPG protein was not detected in non-neoplastic mucosal epithelia.", "output": {"entities": {"gene": [{"text": "OPG", "start": 53, "end": 56}], "disease": [{"text": "carcinomas", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Mutation 926delA of the SAG gene is the main cause of Oguchi disease in Japanese.", "output": {"entities": {"gene": [{"text": "SAG", "start": 24, "end": 27}], "disease": [{"text": "Oguchi disease", "start": 54, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAG", "start": 24, "end": 27}, "tail": {"text": "Oguchi disease", "start": 54, "end": 68}}]}}, "schema": []}
{"input": "The Role of TSLP in IL-13-induced atopic march.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 20, "end": 25}], "disease": [{"text": "atopic", "start": 34, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The joint effects in the highest risk category (NAT2 slow acetylator, NAT1 fast acetylator, and current or ever cigarette smoking) as compared with the reference category (NAT2 fast acetylator, NAT1 slow acetylator, and never smoking) were associated with an odds ratio of 2. 73 (95% CI: 1. 70, 4. 31).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 48, "end": 52}], "disease": [{"text": "smoking", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Pin1 binds HBx to enhance hepatocarcinogenesis in HBV-infected hepatocytes.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 0, "end": 4}], "disease": [{"text": "hepatocarcinogenesis", "start": 26, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "PON1 A (-162) G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol (HDLC), waist circumference (waist), and duration of diabetes were included in the regression analysis with log (e) (ln) of PON1 mass as the dependent variable.", "output": {"entities": {"gene": [{"text": "PON2", "start": 20, "end": 24}], "disease": [{"text": "waist circumference", "start": 110, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Of 34 informative cases of head and neck squamous cell carcinoma, 68% of tumors showed loss of heterozygosity at chromosome 13q33-34, where the ING1 gene is located.", "output": {"entities": {"gene": [{"text": "ING1", "start": 144, "end": 148}], "disease": [{"text": "head and neck squamous cell carcinoma", "start": 27, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ING1", "start": 144, "end": 148}, "tail": {"text": "head and neck squamous cell carcinoma", "start": 27, "end": 64}}]}}, "schema": []}
{"input": "Our results demonstrate for the first time that common variants in BRCA2 and MAP2K4 are susceptibility to sporadic pancreatic cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 67, "end": 72}], "disease": [{"text": "sporadic", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.", "output": {"entities": {"gene": [{"text": "CHD8", "start": 159, "end": 163}], "disease": [{"text": "facies", "start": 110, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHD8", "start": 159, "end": 163}, "tail": {"text": "facies", "start": 110, "end": 116}}]}}, "schema": []}
{"input": "TMEM25, REPS2 and Meis 1 expression was investigated by qRT-PCR, in triplicate, in 103 breast tumour biopsies procured in 1993-1994.", "output": {"entities": {"gene": [{"text": "TMEM25", "start": 0, "end": 6}], "disease": [{"text": "breast tumour", "start": 87, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMEM25", "start": 0, "end": 6}, "tail": {"text": "breast tumour", "start": 87, "end": 100}}]}}, "schema": []}
{"input": "A combination of the ITPA genotype with baseline haemoglobin (Hb) and creatinine clearance (CLcr) levels predicted severe anaemia with high accuracy (90% sensitivity and 62% specificity).", "output": {"entities": {"gene": [{"text": "CLcr", "start": 92, "end": 96}], "disease": [{"text": "anaemia", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We propose that ATL cells proliferate in sequential events: the homotypic and calcium-dependent adhesion through LFA-1/ICAM-1, the signal transduction through these adhesion molecules, the production of cytokines, and the proliferation.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 113, "end": 118}], "disease": [{"text": "adhesion", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Therefore, this is the first evidence that ethanol may alter FAS-associated embryonic brain development through the alteration of Bax and Bcl-2 expression.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 138, "end": 143}], "disease": [{"text": "FAS", "start": 61, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 138, "end": 143}, "tail": {"text": "FAS", "start": 61, "end": 64}}]}}, "schema": []}
{"input": "In this study, lymph node biopsies from eight HIV-infected patients with persistent generalized lymphadenopathy syndrome (PGL) were assessed for IL-1 beta, IL-2, IL-4, IL-6, IL-10, interferon-gamma (IFN-gamma) and tumour necrosis factor-beta (TNF-beta) gene expression using the polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 162, "end": 166}], "disease": [{"text": "lymphadenopathy syndrome", "start": 96, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Similarly, pancreatitis (n = 17), pancreatic intraepithelial neoplasia (n = 80), and pancreatic adenocarcinoma (n = 67) showed a significant up-regulation of FGF-BP1 compared with normal pancreas (n = 42; all P < 0. 0001, relative to normal).", "output": {"entities": {"gene": [{"text": "BP1", "start": 162, "end": 165}], "disease": [{"text": "pancreatic adenocarcinoma", "start": 85, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "WT and mutant Gα11 proteins causing FHH2, ADH2 or uveal melanoma were transfected in CaSR-expressing HEK293 cells, and Ca (2 +) i and ERK phosphorylation responses measured by flow-cytometry and Alphascreen immunoassay following exposure to extracellular Ca (2 +) (Ca (2 +) o) and allosteric modulators.", "output": {"entities": {"gene": [{"text": "ERK", "start": 134, "end": 137}], "disease": [{"text": "uveal melanoma", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Corticotropin-releasing hormone-induced electrographic and behavioral seizures originate in the amygdala.", "output": {"entities": {"gene": [{"text": "Corticotropin-releasing hormone", "start": 0, "end": 31}], "disease": [{"text": "seizures", "start": 70, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Corticotropin-releasing hormone", "start": 0, "end": 31}, "tail": {"text": "seizures", "start": 70, "end": 78}}]}}, "schema": []}
{"input": "Formalin-fixed, paraffin-embedded tissue from 19 myelolipomas was stained with hematoxylin and eosin and immunostained with monoclonal antibodies against CD138, CD34, CD117, CD42a, hemoglobin, myeloperoxidase, collagen IV, and nerve growth factor receptor.", "output": {"entities": {"gene": [{"text": "CD117", "start": 167, "end": 172}], "disease": [{"text": "hemoglobin", "start": 181, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "The individual correlation analyses of functional readouts (erythema and pain response) with local expression changes provided evidence for a potential role of Nav1. 7 in mechanical hyperalgesia.", "output": {"entities": {"gene": [{"text": "Nav1. 7", "start": 160, "end": 167}], "disease": [{"text": "mechanical hyperalgesia", "start": 171, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Here we apply the pathway-focused approach to an association study of hypertension, systolic blood pressure (SBP), and diastolic blood pressure (DBP) in 1614 Nigerians with genome-wide data.", "output": {"entities": {"gene": [{"text": "DBP", "start": 145, "end": 148}], "disease": [{"text": "systolic blood pressure", "start": 84, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Nonetheless, primordial aspects of the pathogenesis of CML, such as the mechanisms responsible for the transition from chronic phase to blast crisis, the causes of genomic instability and faulty DNA repair, the phenomenon of stem cell quiescence, the role of tumor suppressors in TKI resistance and CML progression, or the cross-talk between BCR-ABL1 and other oncogenic signaling pathways, still remain poorly understood.", "output": {"entities": {"gene": [{"text": "BCR", "start": 342, "end": 345}], "disease": [{"text": "genomic instability", "start": 164, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated the relevance of this mechanism in humans by showing that pharmacological inhibition of NKCC2 was more effective in lowering blood pressure in hypertensive patients who are homozygous for UMOD promoter risk variants than in other hypertensive patients.", "output": {"entities": {"gene": [{"text": "NKCC2", "start": 104, "end": 109}], "disease": [{"text": "blood pressure", "start": 141, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.", "output": {"entities": {"gene": [{"text": "VMA21", "start": 0, "end": 5}], "disease": [{"text": "autophagic vacuolar myopathy", "start": 62, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMA21", "start": 0, "end": 5}, "tail": {"text": "autophagic vacuolar myopathy", "start": 62, "end": 90}}]}}, "schema": []}
{"input": "A 1. 02-kb genomic deletion in the Batten disease gene CLN3 has been determined to be a common mutation.", "output": {"entities": {"gene": [{"text": "CLN3", "start": 55, "end": 59}], "disease": [{"text": "Batten disease", "start": 35, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLN3", "start": 55, "end": 59}, "tail": {"text": "Batten disease", "start": 35, "end": 49}}]}}, "schema": []}
{"input": "In the melancholic subgroup, AVP mRNA expression was significantly increased in both the SON and the PVN compared with control subjects.", "output": {"entities": {"gene": [{"text": "AVP", "start": 29, "end": 32}], "disease": [{"text": "melancholic", "start": 7, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AVP", "start": 29, "end": 32}, "tail": {"text": "melancholic", "start": 7, "end": 18}}]}}, "schema": []}
{"input": "In the present study, we found that glycitein, a bacterial metabolite of the isoflavone glycitin, inhibits the expression of MMP-3 and MMP-9 at promoter, mRNA, and protein levels in PMA-stimulated U87MG human astroglioma cells.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 135, "end": 140}], "disease": [{"text": "astroglioma", "start": 209, "end": 220}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 135, "end": 140}, "tail": {"text": "astroglioma", "start": 209, "end": 220}}]}}, "schema": []}
{"input": "Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.", "output": {"entities": {"gene": [{"text": "TMEM25", "start": 25, "end": 31}], "disease": [{"text": "breast cancer", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TMEM25", "start": 25, "end": 31}, "tail": {"text": "breast cancer", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "BRCA2 tumors present a phenotype opposite to BRCA1 tumors but very similar to sporadic tumors, except that BRCA2 overexpress some DNA repair markers such as CHEK2, show high cytoplasmic expression of RAD51, and are negative for HER-2 amplification and expression.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that antiplatelet drugs might interfere with gastric ulcer healing by suppressing the release of growth factors, such as vascular endothelial growth factor (VEGF), from platelets.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor", "start": 137, "end": 171}], "disease": [{"text": "gastric ulcer", "start": 61, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vascular endothelial growth factor", "start": 137, "end": 171}, "tail": {"text": "gastric ulcer", "start": 61, "end": 74}}]}}, "schema": []}
{"input": "Here, we show that bone marrow-derived M-CSF-dependent macrophages (BMMs) from the heterozygous cherubism mutant (Sh3bp2 (KI/+)) mice are highly responsive to TNF-α and can differentiate into osteoclasts independently of RANKL in vitro by a mechanism that involves spleen tyrosine kinase (SYK) and phospholipase Cγ2 (PLCγ2) phosphorylation, leading to increased nuclear translocation of NFATc1.", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 39, "end": 44}], "disease": [{"text": "cherubism", "start": 96, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Two of four siblings expressed the salt-losing form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) and had identical human lymphocyte antigen (HLA) and complement C4 (fourth component of complement) types (HLA-A3, C4, B35, C4A3, C4BQO, DR1/A2, C-, B18, C4A3, C4BQO, DR6).", "output": {"entities": {"gene": [{"text": "DR6", "start": 292, "end": 295}], "disease": [{"text": "21-hydroxylase deficiency", "start": 93, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that MKP-1, the natural regulator of p-p38, mediates resolution of the spinal cord pro-inflammatory milieu induced by peripheral nerve injury, resulting in prevention of chronic mechanical hypersensitivity.", "output": {"entities": {"gene": [{"text": "p38", "start": 60, "end": 63}], "disease": [{"text": "hypersensitivity", "start": 210, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA.", "output": {"entities": {"gene": [{"text": "CSTA", "start": 133, "end": 137}], "disease": [{"text": "APSS", "start": 54, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSTA", "start": 133, "end": 137}, "tail": {"text": "APSS", "start": 54, "end": 58}}]}}, "schema": []}
{"input": "We investigated GDAP1 expression in the nervous system and dorsal root ganglia (DRG) neuron cultures.", "output": {"entities": {"gene": [{"text": "GDAP1", "start": 16, "end": 21}], "disease": [{"text": "nervous system", "start": 40, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the relationship between smoking, alcohol drinking and genetic polymorphism of the growth hormone 1 gene (GH1) T1663A with reference to colorectal cancer.", "output": {"entities": {"gene": [{"text": "GH1", "start": 144, "end": 147}], "disease": [{"text": "smoking", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasms.", "output": {"entities": {"gene": [{"text": "CBL", "start": 19, "end": 22}], "disease": [{"text": "uniparental disomy", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Here, we present a patient with a WASP mutation who suffered from severe atopic eczema, mild thrombocytopenia and only a slightly increased frequency of infections, who then developed IgA nephropathy and consequently underwent renal transplantation, which was successful.", "output": {"entities": {"gene": [{"text": "WASP", "start": 34, "end": 38}], "disease": [{"text": "infections", "start": 153, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.", "output": {"entities": {"gene": [{"text": "POU3F3", "start": 10, "end": 16}], "disease": [{"text": "Intellectual Disability", "start": 40, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "POU3F3", "start": 10, "end": 16}, "tail": {"text": "Intellectual Disability", "start": 40, "end": 63}}]}}, "schema": []}
{"input": "A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 96, "end": 100}], "disease": [{"text": "renal-coloboma syndrome", "start": 10, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PAX2", "start": 96, "end": 100}, "tail": {"text": "renal-coloboma syndrome", "start": 10, "end": 33}}]}}, "schema": []}
{"input": "Finally, although hypoxia enhances CXCR4 and CXCR7 promoter activity and receptor expression in RD cells, it inhibits CXCR7 expression in RD/PAX3-FKHR cells.", "output": {"entities": {"gene": [{"text": "PAX3", "start": 141, "end": 145}], "disease": [{"text": "hypoxia", "start": 18, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Renal sodium retention in liver cirrhosis, nephrotic syndrome and hypoxia have been linked to 11beta-HSD2 reduced activity.", "output": {"entities": {"gene": [{"text": "HSD2", "start": 101, "end": 105}], "disease": [{"text": "nephrotic syndrome", "start": 43, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSD2", "start": 101, "end": 105}, "tail": {"text": "nephrotic syndrome", "start": 43, "end": 61}}]}}, "schema": []}
{"input": "Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress.", "output": {"entities": {"gene": [{"text": "CHAT", "start": 44, "end": 48}], "disease": [{"text": "infections", "start": 184, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "AKT-glycogen synthase kinase 3beta (GSK3beta) signaling is a target of lithium and has been implicated in the pathogenesis of mood disorders and schizophrenia.", "output": {"entities": {"gene": [{"text": "AKT", "start": 0, "end": 3}], "disease": [{"text": "mood disorders", "start": 126, "end": 140}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT", "start": 0, "end": 3}, "tail": {"text": "mood disorders", "start": 126, "end": 140}}]}}, "schema": []}
{"input": "Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA).", "output": {"entities": {"gene": [{"text": "CMP", "start": 107, "end": 110}], "disease": [{"text": "skeletal myopathy", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "These have classically been with DNA damaging chemotherapy but the recently developed small molecule inhibitors of DNA repair enzymes such as Poly-ADP polymerases PARP-1 and PARP-2 have been shown to target tumour deficiencies in DNA repair as well sensitizing to DNA damaging therapeutics such as radiation and chemotherapy.", "output": {"entities": {"gene": [{"text": "ADP", "start": 147, "end": 150}], "disease": [{"text": "tumour", "start": 207, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "The frequency of allele losses on distal 17p (16%) is low in these familial tumours compared with the previously reported incidence in sporadic tumours (> 50%), whereas the frequency of losses at the p53 locus and on 17q was similar to sporadic tumours (5%-40%).", "output": {"entities": {"gene": [{"text": "p53", "start": 200, "end": 203}], "disease": [{"text": "sporadic", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether kinase insert domain-containing receptor (KDR) gene polymorphisms are risk factors for recurrent spontaneous abortion (RSA) in Korean women.", "output": {"entities": {"gene": [{"text": "KDR", "start": 65, "end": 68}], "disease": [{"text": "recurrent spontaneous abortion", "start": 110, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "However, whether PAR-1 also plays a role in the development of skin fibrosis remains elusive.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 17, "end": 22}], "disease": [{"text": "fibrosis", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "HIF2A mRNA was induced by hypoxia in neuroblastoma cells isolated from metastatic patient-derived tumor xenografts, where HIF2A levels could be reduced by treatment with PI3K and mTORC2 inhibitors.", "output": {"entities": {"gene": [{"text": "mTORC2", "start": 179, "end": 185}], "disease": [{"text": "hypoxia", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "In vitro studies showed that cell growth, as measured by the thymidine incorporation assay, was inhibited in the C4-2, PC-3, and DU145 cells infected with wild-type p53 adenovirus in comparison to control viruses.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 119, "end": 123}], "disease": [{"text": "adenovirus", "start": 169, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, TRPV6 represents a prognostic marker and, as a plasma membrane Ca2 + channel, a promising target for new therapeutic strategies to treat advanced prostate cancer.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 76, "end": 79}], "disease": [{"text": "prostate cancer", "start": 159, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The FIP1L1-PDGFRA fusion gene is the most frequent genetic aberration in myeloid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 11, "end": 17}], "disease": [{"text": "abnormalities", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The concentrations of fibrinogen (Fb) and the activities of factor VII (F VIIC) and antithrombin III (AT III) both in men less than 55 years old with a history of myocardial infarction (MI) and with normolipemia (MI-NLP) or hyperlipoproteinemia (MI-HLP) and in their sons have been measured.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 84, "end": 100}], "disease": [{"text": "fibrinogen", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Genes expressed by odontoblasts (COL1A1, COL1A2, and DSPP), and ameloblasts (AMELX, ENAM, MMP20, and KLK4) during the crown formation stage, are associated with dentinogenesis imperfecta, dentin dysplasia, and amelogenesis imperfecta.", "output": {"entities": {"gene": [{"text": "COL1A2", "start": 41, "end": 47}], "disease": [{"text": "dentin dysplasia", "start": 188, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "In contrast, signaling by constitutively active PTH/PTHrP receptor (caPPR), whose expression was regulated by the osteoblast-specific Col1a1 promoter (Col1a1-caPPR), suppressed unloading-induced reduction in bone mass in these transgenic mice.", "output": {"entities": {"gene": [{"text": "PTH/PTHrP receptor", "start": 48, "end": 66}], "disease": [{"text": "bone mass", "start": 208, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3.", "output": {"entities": {"gene": [{"text": "WISP3", "start": 122, "end": 127}], "disease": [{"text": "PPD", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WISP3", "start": 122, "end": 127}, "tail": {"text": "PPD", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "In those patients who survive the initial phase of poisoning, filgrastim (granulocyte colony-stimulating factor) offers an effective method of treating pancytopenia and preventing overwhelming septicemia.", "output": {"entities": {"gene": [{"text": "filgrastim", "start": 62, "end": 72}], "disease": [{"text": "septicemia", "start": 193, "end": 203}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "filgrastim", "start": 62, "end": 72}, "tail": {"text": "septicemia", "start": 193, "end": 203}}]}}, "schema": []}
{"input": "B27 transgenic rats develop a spontaneous disease resembling the human spondyloarthropathies that includes arthritis and colitis.", "output": {"entities": {"gene": [{"text": "B27", "start": 0, "end": 3}], "disease": [{"text": "colitis", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The signaling pathway through which knockdown of CNDP2 inhibited cell proliferation and tumorigenesis involved in EGFR, cyclin B1 and cyclin E. Knockdown of CNDP2 can inhibit the proliferation of colon cancer in vitro and retarded carcinogenesis in vivo.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 134, "end": 142}], "disease": [{"text": "colon cancer", "start": 196, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "This report underscores the importance of CCDC11 in laterality determination.", "output": {"entities": {"gene": [{"text": "CCDC11", "start": 42, "end": 48}], "disease": [{"text": "laterality", "start": 52, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Collective results imply a unified molecular mechanism for repair-independent functions of FA, RAD51, and BRCA1/2 proteins in preventing genomic instability and suppressing tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 95, "end": 100}], "disease": [{"text": "tumorigenesis", "start": 173, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on the long arm of the X chromosome in band Xq22.", "output": {"entities": {"gene": [{"text": "PLP1", "start": 184, "end": 188}], "disease": [{"text": "dysmyelinating leukodystrophy", "start": 95, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "In available genome-wide association results from the Psychiatric Genomics Consortium we found that SNPs in CTNND2 collectively showed an increased signal for schizophrenia (P & #8201; & lt; & #8201; 1e (-5)) and major depressive disorder (P & #8201; & lt; & #8201; 1e (-5)), but not for bipolar disorder.", "output": {"entities": {"gene": [{"text": "CTNND2", "start": 108, "end": 114}], "disease": [{"text": "schizophrenia", "start": 159, "end": 172}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTNND2", "start": 108, "end": 114}, "tail": {"text": "schizophrenia", "start": 159, "end": 172}}]}}, "schema": []}
{"input": "A significant decrease in LOX-1 mRNA was found in placental explant cultures under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "LOX-1", "start": 26, "end": 31}], "disease": [{"text": "hypoxic", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Treating neuroblastoma cells with TNF-α resulted in the activation of nuclear factor-kappa B (NF-κB) and subsequently, the translocation of NF-κB from the cytoplasm to the nucleus.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 34, "end": 39}], "disease": [{"text": "translocation", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical and ultrastructural observations revealed that all the tumors were ependymal in nature with positivity for GFAP and epithelial membrane antigen and negativity for oligodendrocyte transcription factor 2, showing intra-and intercellular microrosettes, leading us to a diagnosis of tanycytic ependymoma for the frontal lobe tumor and tanycytic ependymoma with ordinary ependymomatous component for the spinal cord tumors.", "output": {"entities": {"gene": [{"text": "epithelial membrane antigen", "start": 136, "end": 163}], "disease": [{"text": "tanycytic ependymoma", "start": 299, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "Two novel molecular defects in the LCAT gene are associated with fish eye disease.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 35, "end": 39}], "disease": [{"text": "fish eye disease", "start": 65, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 35, "end": 39}, "tail": {"text": "fish eye disease", "start": 65, "end": 81}}]}}, "schema": []}
{"input": "The temporal inferior cortex (TIC) from Swedish FAD patients revealed a striking 2-to 3-fold increase in diene conjugates, lipid peroxides and protein carbonyls, compared to sporadic Alzheimer' s disease (AD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 48, "end": 51}], "disease": [{"text": "sporadic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly, one of the family members had ocular melanoma, but the CDK4 mutation could not be detected in archival tissue samples from this subject.", "output": {"entities": {"gene": [{"text": "CDK4", "start": 69, "end": 73}], "disease": [{"text": "ocular melanoma", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "The polymorphisms in the genes encoding antioxidant enzymes, such as manganese superoxide dismutase (MnSOD) should, thus, result in predisposition to this psychiatric disorder.", "output": {"entities": {"gene": [{"text": "manganese superoxide dismutase", "start": 69, "end": 99}], "disease": [{"text": "psychiatric disorder", "start": 155, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS.", "output": {"entities": {"gene": [{"text": "TBX3", "start": 60, "end": 64}], "disease": [{"text": "UMS", "start": 139, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX3", "start": 60, "end": 64}, "tail": {"text": "UMS", "start": 139, "end": 142}}]}}, "schema": []}
{"input": "Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, & #945; IIb & #946; 3, an integrin coded by the ITGA2B and ITGB3 genes.", "output": {"entities": {"gene": [{"text": "ITGB3", "start": 197, "end": 202}], "disease": [{"text": "GT", "start": 61, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB3", "start": 197, "end": 202}, "tail": {"text": "GT", "start": 61, "end": 63}}]}}, "schema": []}
{"input": "In contrast, samples from patients with pyogenic arthritis had moderate PTN levels, and those from patients with osteoarthritis had only a slight increase in PTN, as measured by ELISA.", "output": {"entities": {"gene": [{"text": "PTN", "start": 72, "end": 75}], "disease": [{"text": "pyogenic arthritis", "start": 40, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "A patient with limb-girdle muscular dystrophy phenotype, with onset at 12 years of age, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle.", "output": {"entities": {"gene": [{"text": "alpha-dystroglycan", "start": 135, "end": 153}], "disease": [{"text": "severe myopia", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The genetic basis for XX true hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear.", "output": {"entities": {"gene": [{"text": "SRY", "start": 86, "end": 89}], "disease": [{"text": "translocation", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We have generated an animal model for ARSACS, sacsin knockout mice, that display age-dependent neurodegeneration of cerebellar Purkinje cells.", "output": {"entities": {"gene": [{"text": "sacsin", "start": 46, "end": 52}], "disease": [{"text": "neurodegeneration", "start": 95, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Sequential and double in situ hybridization (ISH) and immunohistochemistry (IHC) were performed on thin sections of human conjunctiva to determine the colocalization of the immunoreactivity of IL-4, IL-5, IL-6, and IL-13 to mast cell subsets in normal subjects and subjects with atopy and to detect IL-4 mRNA in conjunctival mast cells.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 215, "end": 220}], "disease": [{"text": "atopy", "start": 279, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "]), and not kinase dead AKT1 (179M) or AKT3 (177M), was capable of blocking invasion induced by either human epidermal growth factor receptor-2 (HER-2) overexpression or by activation of PI3-K. Taken together, these data indicate that AKT2 mediates PI3-K-dependent effects on adhesion, motility, invasion, and metastasis in vivo.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 24, "end": 28}], "disease": [{"text": "adhesion", "start": 276, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "The mRNA and genomic DNA encoding TRKA were analysed in three unrelated CIPA patients who had consanguineous parents.", "output": {"entities": {"gene": [{"text": "TRKA", "start": 34, "end": 38}], "disease": [{"text": "CIPA", "start": 72, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRKA", "start": 34, "end": 38}, "tail": {"text": "CIPA", "start": 72, "end": 76}}]}}, "schema": []}
{"input": "An evaluation of the mutation spectra in K-ras and p53 gene was effected in 167 Tunisian patients with sporadic CRC to determine whether our populations have similar pattern of genetic alteration as in Maghrebin' s population.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 51, "end": 59}], "disease": [{"text": "sporadic", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated previously that disruption of the germ cell-specific lactate dehydrogenase C gene (Ldhc) led to male infertility due to defects in sperm function, including a rapid decline in sperm ATP levels, a decrease in progressive motility, and a failure to develop hyperactivated motility.", "output": {"entities": {"gene": [{"text": "lactate dehydrogenase C", "start": 69, "end": 92}], "disease": [{"text": "male infertility", "start": 112, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "lactate dehydrogenase C", "start": 69, "end": 92}, "tail": {"text": "male infertility", "start": 112, "end": 128}}]}}, "schema": []}
{"input": "Lpin1 (1Hubr) rats are characterized by hindlimb paralysis and mild lipodystrophy that are detectable from the second postnatal week.", "output": {"entities": {"gene": [{"text": "Lpin1", "start": 0, "end": 5}], "disease": [{"text": "mild", "start": 63, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that WNT4 might not contribute to the aetiology of Müllerian duct abnormalities in Chinese women.", "output": {"entities": {"gene": [{"text": "WNT4", "start": 25, "end": 29}], "disease": [{"text": "abnormalities", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The balanced translocation t (11; 22) (q24; q12) is specific for the Ewing' s sarcoma/peripheral primitive neuroectodermal tumors (ES/PNETs) and results in the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "EWS", "start": 160, "end": 163}], "disease": [{"text": "translocation", "start": 13, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Telomeric restriction fragment (TRF) length of gastric cancer was measured with Southern blot.", "output": {"entities": {"gene": [{"text": "TRF", "start": 32, "end": 35}], "disease": [{"text": "gastric cancer", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In this study, we will review the general functions of pentraxins in innate immunity and inflammation, focusing our attention on the prototypic long pentraxin PTX3.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 159, "end": 163}], "disease": [{"text": "inflammation", "start": 89, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The enhanced VEGF gene transcription in TAMR-MCF-7 cells was suppressed by amurensin G. Molecular analyses using reporter genes with hypoxia response elements and activator protein-1 (AP-1) elements, and western blots revealed that the activities and the nuclear levels of hypoxia inducible factor-1 (HIF-1) α and AP-1 in TAMR-MCF-7 cells were decreased by amurensin G. Moreover, amurensin G concentration-dependently inhibited protein expression and gene transcription of Pin1 in TAMR-MCF-7 cells, which was dependent on E2F1 inhibition.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 184, "end": 188}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "MMPs, which degrade components of the ECM, have roles in embryonic development, tissue repair, cancer, arthritis, and cardiovascular disease.", "output": {"entities": {"gene": [{"text": "ECM", "start": 38, "end": 41}], "disease": [{"text": "arthritis", "start": 103, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In the present study we focused on two cathepsins, CATS and CATX, and studied their spatiotemporal expression and activity during the development and progression of neuropathic pain in the CNS of the rat 5th lumbar spinal nerve transection model (L5T).", "output": {"entities": {"gene": [{"text": "CATS", "start": 51, "end": 55}], "disease": [{"text": "neuropathic pain", "start": 165, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "When mutations in hMSH6 were included, more than 80% of Chinese colorectal cancer patients younger than 31 years had germline mutations in mismatch repair genes.", "output": {"entities": {"gene": [{"text": "hMSH6", "start": 18, "end": 23}], "disease": [{"text": "colorectal cancer", "start": 64, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMSH6", "start": 18, "end": 23}, "tail": {"text": "colorectal cancer", "start": 64, "end": 81}}]}}, "schema": []}
{"input": "The present study suggests that genetic variation in or near the ME2 gene is associated with both psychotic and manic disorders, including schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "ME2", "start": 65, "end": 68}], "disease": [{"text": "bipolar disorder", "start": 157, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ME2", "start": 65, "end": 68}, "tail": {"text": "bipolar disorder", "start": 157, "end": 173}}]}}, "schema": []}
{"input": "Most significantly, loss of Pdcd4 augments hypoxia induction of LOX as well.", "output": {"entities": {"gene": [{"text": "LOX", "start": 64, "end": 67}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the molecular mechanism involved in the induction of ctgf/ccn2 by hypoxia in a human chondrosarcoma cell line, HCS-2/8.", "output": {"entities": {"gene": [{"text": "ccn2", "start": 80, "end": 84}], "disease": [{"text": "hypoxia", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The abnormal serum PON1 distribution in diabetic patients, could be responsible for the accelerated atherosclerosis development in these patients.", "output": {"entities": {"gene": [{"text": "PON1", "start": 19, "end": 23}], "disease": [{"text": "atherosclerosis", "start": 100, "end": 115}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PON1", "start": 19, "end": 23}, "tail": {"text": "atherosclerosis", "start": 100, "end": 115}}]}}, "schema": []}
{"input": "As immature teratomas are classified as germ cell tumours, we performed a comprehensive mutation survey of 106 apparently sporadic germ cell tumours, but did not find any other clearly deleterious SMARCA4 mutations.", "output": {"entities": {"gene": [{"text": "SMARCA4", "start": 197, "end": 204}], "disease": [{"text": "sporadic", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Although a significant role of TLR3/TLR4 in neurodegeneration is gaining certainty, their importance in establishing a causal link between prenatal infection and immuno-inflammatory, oxidative and nitrosative stress (IO & NS) responses and influence on adult presentation of schizophrenia is yet to be ascertained.", "output": {"entities": {"gene": [{"text": "TLR3", "start": 31, "end": 35}], "disease": [{"text": "schizophrenia", "start": 275, "end": 288}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TLR3", "start": 31, "end": 35}, "tail": {"text": "schizophrenia", "start": 275, "end": 288}}]}}, "schema": []}
{"input": "Stress can play an important role in etiology of fibromyalgia syndrome (FMS) by activating the hypothalamic-pituitary-adrenal (HPA) axis, the sympathetic nervous system (SNS), and altering the immune system.", "output": {"entities": {"gene": [{"text": "HPA", "start": 127, "end": 130}], "disease": [{"text": "fibromyalgia syndrome", "start": 49, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We have investigated frameshift mutations in exonic repeats in the ATR, BRCA1, BRCA2, PTCH, CTCF, Cx26, NuMa and TGFbetaRII genes, using human tumor samples from stomach, esophagus, breast and skin and melanoma, as well as colon cancer and endometrial cancer cell lines (125 samples in total).", "output": {"entities": {"gene": [{"text": "Cx26", "start": 98, "end": 102}], "disease": [{"text": "colon cancer", "start": 223, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "We conducted a meta-analysis to assess the association between the N363S polymorphism of the GRL gene and obesity risk.", "output": {"entities": {"gene": [{"text": "GRL", "start": 93, "end": 96}], "disease": [{"text": "obesity", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The mammalian gene encoding Beclin 1, a novel Bcl-2-interacting, coiled-coil protein, has structural similarity to the yeast autophagy gene, apg6/vps30, and is mono-allelically deleted in 40-75% of sporadic human breast cancers and ovarian cancers.", "output": {"entities": {"gene": [{"text": "vps30", "start": 146, "end": 151}], "disease": [{"text": "sporadic", "start": 198, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The authors found a nonsignificant trend of a lower body mass index and higher Pediatric Crohn Disease Activity Index in patients with CARD15 mutations.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 135, "end": 141}], "disease": [{"text": "body mass index", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Microarray-based gene expression data unexpectedly demonstrated a significant number of up-or down-regulated immune-and inflammation-related genes, including many well-known interferon (IFN)-induced genes (e. g., IFI44L, PSMB8, IRF5, PSMB10, IFI27, PSB9_HUMAN, IFIT2, TRAIL, IFIT1, PSB8_HUMAN, IRF1, B2M and GBP1), major histocompatibility complex (MHC) class I molecules (e. g., HLA-B, HLA-C, HLA-F and HLA-H) and interleukin (IL)-related genes (e. g., IL20RB, GALT, IL7, IL1B, IL11, IL1F8, IL1A, IL6 and IL7R), which was confirmed by qRT-PCR.", "output": {"entities": {"gene": [{"text": "IRF5", "start": 228, "end": 232}], "disease": [{"text": "inflammation", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "ELISA and Western blot analysis determined the synthesis and secretion of MIF by human bladder transitional cell carcinoma cells.", "output": {"entities": {"gene": [{"text": "MIF", "start": 74, "end": 77}], "disease": [{"text": "bladder transitional cell carcinoma", "start": 87, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Randomized, double-blind, placebo-controlled clinical trial where 204 AD patients (74 +/-9 years) with acetylcholine esterase inhibitor treatment and a MMSE > 15 points were randomized to daily intake of 1. 7 g DHA and 0. 6 g EPA (omega3 group) or placebo for 6 months.", "output": {"entities": {"gene": [{"text": "EPA", "start": 226, "end": 229}], "disease": [{"text": "blind", "start": 19, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Previous studies demonstrated that in ischemia-reperfusion (I/R) injury of the small intestine, the TLR2-dependent signaling exerted preventive effects on the damage in young mice, but did not have a significant effect in neonatal mice.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 100, "end": 104}], "disease": [{"text": "ischemia", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we investigated relative mRNA expression of selected adipocytokine genes (leptin, leptin receptors (LEPRA, LEPRB, LEPRC, LEPRD) and adiponectin receptors (ADIPOR1, ADIPOR2)) in placental tissues from women with pre-eclampsia (n = 6) or CHBP (n = 8).", "output": {"entities": {"gene": [{"text": "ADIPOR2", "start": 175, "end": 182}], "disease": [{"text": "pre-eclampsia", "start": 222, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "We also found that the association between lncRNA-EBIC and EZH2 was required for the repression of E-cadherin, which was a key molecular in the metastasis of cervical cancer.", "output": {"entities": {"gene": [{"text": "lncRNA-EBIC", "start": 43, "end": 54}], "disease": [{"text": "metastasis", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.", "output": {"entities": {"gene": [{"text": "ATP1A3", "start": 21, "end": 27}], "disease": [{"text": "alternating hemiplegia of childhood", "start": 34, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP1A3", "start": 21, "end": 27}, "tail": {"text": "alternating hemiplegia of childhood", "start": 34, "end": 69}}]}}, "schema": []}
{"input": "These findings demonstrate that MALAT1 is a metastasis-suppressing lncRNA rather than a metastasis promoter in breast cancer, calling for rectification of the model for this highly abundant and conserved lncRNA.", "output": {"entities": {"gene": [{"text": "MALAT1", "start": 32, "end": 38}], "disease": [{"text": "breast cancer", "start": 111, "end": 124}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MALAT1", "start": 32, "end": 38}, "tail": {"text": "breast cancer", "start": 111, "end": 124}}]}}, "schema": []}
{"input": "A potential role for lysophosphatidic acid (LPA) in human oncogenesis was first suggested by the observation that LPA is present at elevated levels in ascites of ovarian cancer patients.", "output": {"entities": {"gene": [{"text": "LPA", "start": 44, "end": 47}], "disease": [{"text": "ascites", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Expression of HIF-1alpha and cleaved caspase 3 localised to necrotic areas.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 37, "end": 46}], "disease": [{"text": "necrotic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "In t-MDS cases, the translocation resulted in the NUP98/TOP1 fusion transcript.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 50, "end": 55}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "To examine the effect of transforming growth factor (TGF) beta3 on immortalized myometrial and leiomyoma cell lines cloned from primary cell cultures of surgical specimens, and to determine whether such treatment alters myometrial cell extracellular matrix (ECM) expression.", "output": {"entities": {"gene": [{"text": "beta3", "start": 58, "end": 63}], "disease": [{"text": "leiomyoma", "start": 95, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Phenotype of cells expressing mRNA for TH2-type (interleukin 4 and interleukin 5) and TH1-type (interleukin 2 and interferon gamma) cytokines in bronchoalveolar lavage and bronchial biopsies from atopic asthmatic and normal control subjects.", "output": {"entities": {"gene": [{"text": "TH1", "start": 86, "end": 89}], "disease": [{"text": "atopic", "start": 196, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the gene for the major protein component of peripheral nerve myelin, myelin protein zero (MPZ, P0), cause hereditary disorders of Schwann cell myelin such as Charcot-Marie-Tooth neuropathy type 1B (CMT1B), Dejerine-Sottas syndrome (DSS), and congenital hypomyelinating neuropathy (CHN).", "output": {"entities": {"gene": [{"text": "CHN", "start": 294, "end": 297}], "disease": [{"text": "congenital hypomyelinating neuropathy", "start": 255, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "Administration of a recombinant adenovirus overexpressing SLPI (Adv/SLPI) into the cortical tissue resulted in up to 58. 4% reduction in ischemic lesion over controls at the site of Adv/SLPI expression (p < 0. 01, n = 8) and significantly improved functional outcome (p < 0. 01).", "output": {"entities": {"gene": [{"text": "SLPI", "start": 58, "end": 62}], "disease": [{"text": "adenovirus", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "ILK mediated pressure-stimulated adhesion through specifically regulating phosphorylation of AKT at Ser473 and FAK at Tyr397 and 576 as well as ILK association with FAK and AKT.", "output": {"entities": {"gene": [{"text": "AKT", "start": 93, "end": 96}], "disease": [{"text": "adhesion", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "These results support the evaluation of this form of IL-2 gene therapy in additional patients with glioblastoma.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 53, "end": 57}], "disease": [{"text": "glioblastoma", "start": 99, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-2", "start": 53, "end": 57}, "tail": {"text": "glioblastoma", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.", "output": {"entities": {"gene": [{"text": "SMARCAD1", "start": 41, "end": 49}], "disease": [{"text": "adermatoglyphia", "start": 76, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCAD1", "start": 41, "end": 49}, "tail": {"text": "adermatoglyphia", "start": 76, "end": 91}}]}}, "schema": []}
{"input": "The analysis of SNP data from trios can provide an additional category of information about the nature and origin of inheritance patterns, including uniparental disomy (UPD), loss of transmitted allele (LTA), and nonparental relationship.", "output": {"entities": {"gene": [{"text": "LTA", "start": 203, "end": 206}], "disease": [{"text": "uniparental disomy", "start": 149, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Here we demonstrate an association between increased IDO levels and progression to clinical mycobacterial disease in a natural host, characterizing gene expression, protein localization, and functional effects.", "output": {"entities": {"gene": [{"text": "IDO", "start": 53, "end": 56}], "disease": [{"text": "mycobacterial disease", "start": 92, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The oncogenic JUNB/CD30 axis contributes to cell cycle deregulation in ALK + anaplastic large cell lymphoma.", "output": {"entities": {"gene": [{"text": "JUNB", "start": 14, "end": 18}], "disease": [{"text": "large cell lymphoma", "start": 88, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Upon ischemia-induced degeneration of the S3 segment, we observed a reduction in Chordin-like 1 expression coincident with intense BMP signaling in tubules of the recovering kidney.", "output": {"entities": {"gene": [{"text": "Chordin-like 1", "start": 81, "end": 95}], "disease": [{"text": "ischemia", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.", "output": {"entities": {"gene": [{"text": "EDA1", "start": 43, "end": 47}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 94, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA1", "start": 43, "end": 47}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 94, "end": 127}}]}}, "schema": []}
{"input": "No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism.", "output": {"entities": {"gene": [{"text": "mineralocorticoid receptor", "start": 12, "end": 38}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Spred-2, a predicted target of miRNA-221 and miRNA-485-3p, was downregulated in murine asthma models.", "output": {"entities": {"gene": [{"text": "Spred-2", "start": 0, "end": 7}], "disease": [{"text": "asthma", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, using FISH to identify MAML2 rearrangement is a valuable diagnostic tool in the evaluation of thymic malignancies, specifically, distinguishing TMEC from squamous cell carcinoma and adenosquamous carcinoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 21, "end": 25}], "disease": [{"text": "adenosquamous carcinoma", "start": 197, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results demonstrate that hypoxia induces fibroblast ITGB1 expression and function by transcriptional mechanisms dependent on HIF.", "output": {"entities": {"gene": [{"text": "ITGB1", "start": 74, "end": 79}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Target prediction suggested that miR-940 regulated cell signaling including NF-κB and Wnt/β-catenin, as well as pathways of cell communication and adhesion.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 76, "end": 81}], "disease": [{"text": "adhesion", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families.", "output": {"entities": {"gene": [{"text": "epsilon-sarcoglycan", "start": 75, "end": 94}], "disease": [{"text": "Myoclonus-dystonia", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "epsilon-sarcoglycan", "start": 75, "end": 94}, "tail": {"text": "Myoclonus-dystonia", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "HNPCC pretumor progression essentially begins from birth and ends with MMR loss, implying elevated mutation rates and tumorigenesis may be unnecessary for most progression.", "output": {"entities": {"gene": [{"text": "MMR", "start": 71, "end": 74}], "disease": [{"text": "tumorigenesis", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Clinically, mortalin overexpression in HCC was closely associated with advanced tumor stages and venous infiltration, having implications for increased malignancy and aggressive behavior.", "output": {"entities": {"gene": [{"text": "HCC", "start": 39, "end": 42}], "disease": [{"text": "aggressive behavior", "start": 167, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "RER was found in 17 cases (4 with gastric, 12 with colorectal, and 1 with gallbladder cancer), and 10 of those (3 with gastric and 7 with colorectal cancer) showed mutations of the RII gene.", "output": {"entities": {"gene": [{"text": "RER", "start": 0, "end": 3}], "disease": [{"text": "gallbladder cancer", "start": 74, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Moreover, this observation of miR-19a and TNF-α was also occurred in DSS-treated mice colitis.", "output": {"entities": {"gene": [{"text": "19a", "start": 34, "end": 37}], "disease": [{"text": "colitis", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, the variant translocation, t (12; 22) (q13; q12) creating the Ewing sarcoma (EWS)-CHOP fusion transcript, is detectable in a limited number of cases.", "output": {"entities": {"gene": [{"text": "EWS", "start": 96, "end": 99}], "disease": [{"text": "translocation", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Thus, suppression of KCNQ/M channels in primary DRG neurons plays a crucial role in the development of bone cancer pain.", "output": {"entities": {"gene": [{"text": "DRG", "start": 48, "end": 51}], "disease": [{"text": "cancer pain", "start": 108, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The functions of LZAP in the proliferation, colony formation, cell cycle, migration, invasion and apoptosis of HCC cell lines were also analyzed by infecting cells with an adenovirus containing full-length LZAP.", "output": {"entities": {"gene": [{"text": "HCC", "start": 111, "end": 114}], "disease": [{"text": "adenovirus", "start": 172, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of TIP30 might be a promising candidate as a treatment for HCC that would increase sensitivity to chemotherapeutic drugs.", "output": {"entities": {"gene": [{"text": "TIP30", "start": 18, "end": 23}], "disease": [{"text": "HCC", "start": 74, "end": 77}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TIP30", "start": 18, "end": 23}, "tail": {"text": "HCC", "start": 74, "end": 77}}]}}, "schema": []}
{"input": "In this study, possible mutations in the TSC gene of six Japanese patients clinically diagnosed with GS were investigated.", "output": {"entities": {"gene": [{"text": "TSC", "start": 41, "end": 44}], "disease": [{"text": "GS", "start": 101, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSC", "start": 41, "end": 44}, "tail": {"text": "GS", "start": 101, "end": 103}}]}}, "schema": []}
{"input": "De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.", "output": {"entities": {"gene": [{"text": "GMNN", "start": 8, "end": 12}], "disease": [{"text": "Meier-Gorlin Syndrome", "start": 84, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GMNN", "start": 8, "end": 12}, "tail": {"text": "Meier-Gorlin Syndrome", "start": 84, "end": 105}}]}}, "schema": []}
{"input": "Understanding the biophysical functions of the MMR components is crucial to elucidating the role of MMR in human tumorigenesis and determining the pathogenetic consequences of patients that present in the clinic with an uncharacterized variant of the MMR genes.", "output": {"entities": {"gene": [{"text": "MMR", "start": 47, "end": 50}], "disease": [{"text": "tumorigenesis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we investigated the role of CCR5 during lipopolysaccharide (LPS)-induced acute kidney injury.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 39, "end": 43}], "disease": [{"text": "acute kidney injury", "start": 84, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR5", "start": 39, "end": 43}, "tail": {"text": "acute kidney injury", "start": 84, "end": 103}}]}}, "schema": []}
{"input": "A significant negative correlation was observed between the percentage of Dlco and MCP-1 and MIP-1 alpha levels in BAL fluid in patients with PF (r =-0. 65, p = 0. 003; r =-0. 48, p = 0. 04; respectively).", "output": {"entities": {"gene": [{"text": "MIP-1 alpha", "start": 93, "end": 104}], "disease": [{"text": "PF", "start": 142, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MIP-1 alpha", "start": 93, "end": 104}, "tail": {"text": "PF", "start": 142, "end": 144}}]}}, "schema": []}
{"input": "Although future studies are surely required, the identification of different vascular profiles in HCCs from cirrhotic and non-cirrhotic livers may help clarify the relationship between HCC progression and aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 98, "end": 101}], "disease": [{"text": "aggressiveness", "start": 205, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Human immunodeficiency virus (HIV)-1 infection of the CNS produces changes in dendritic morphology that correlate with cognitive decline in patients with HIV-1 associated dementia (HAD).", "output": {"entities": {"gene": [{"text": "HAD", "start": 181, "end": 184}], "disease": [{"text": "cognitive decline", "start": 119, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Kleine-Levin syndrome (KLS) is a rare disorder characterized by recurrent episodes of hypersomnia, cognitive or behavior disturbances, compulsive eating behavior, and hypersexuality.", "output": {"entities": {"gene": [{"text": "KLS", "start": 23, "end": 26}], "disease": [{"text": "hypersexuality", "start": 167, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Effect of transforming growth factor-alpha on enterocyte apoptosis is correlated with EGF receptor expression along the villus-crypt axis during methotrexate-induced intestinal mucositis in a rat.", "output": {"entities": {"gene": [{"text": "transforming growth factor-alpha", "start": 10, "end": 42}], "disease": [{"text": "mucositis", "start": 177, "end": 186}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "transforming growth factor-alpha", "start": 10, "end": 42}, "tail": {"text": "mucositis", "start": 177, "end": 186}}]}}, "schema": []}
{"input": "The patient from whom this CTL clone was isolated had mild graft-versus-host disease despite high numbers of circulating ECGF-1-specific T cells as detected by tetramer staining.", "output": {"entities": {"gene": [{"text": "ECGF", "start": 121, "end": 125}], "disease": [{"text": "mild", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Using immunofluorescence directed to TLR4, we found that a third of sporadic human colorectal cancers over-express this marker.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 37, "end": 41}], "disease": [{"text": "sporadic", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Key independent risk factors identified by regression modeling included having a twin or sibling with CF and diabetes, increasing age, pancreatic exocrine insufficiency or two mutations causing severe CFTR dysfunction, decreased lung function or decreased body mass index, and longer duration of glucocorticoid treatment.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 201, "end": 205}], "disease": [{"text": "regression", "start": 43, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene.", "output": {"entities": {"gene": [{"text": "RS1 gene", "start": 88, "end": 96}], "disease": [{"text": "secondary", "start": 7, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that AbdB-type HOXA genes are common targets of t (7; 11) (p15; p15) chromosomal translocations and that a single translocation can produce more than one NUP98-HOXA fusion gene, presumably because of altered splicing.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 177, "end": 182}], "disease": [{"text": "translocation", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "To address this question, in the present study, we used a retroviral small interfering RNA approach to selectively knockdown the expression of RhoC in a neovascularization model in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 143, "end": 147}], "disease": [{"text": "neovascularization", "start": 153, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Src-suppressed C-kinase substrate (SSeCKS, the rodent orthologue of human Gravin/AKAP12), whose expression is downregulated by oncogenic Src and in many human cancers, antagonizes oncogenic Src pathways including those driving neovascularization at metastatic sites, metastatic cell motility and invasiveness.", "output": {"entities": {"gene": [{"text": "AKAP12", "start": 81, "end": 87}], "disease": [{"text": "neovascularization", "start": 227, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "However, three SNPs in TYR, SILV/CDK2 and ADAMTS20 genes (rs17793678, rs2069398 and rs1510521 respectively) had an overall p-value & lt; 0. 05 when considering the whole DNA collection (1214 MM cases and 1296 controls).", "output": {"entities": {"gene": [{"text": "ADAMTS20", "start": 42, "end": 50}], "disease": [{"text": "MM", "start": 191, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADAMTS20", "start": 42, "end": 50}, "tail": {"text": "MM", "start": 191, "end": 193}}]}}, "schema": []}
{"input": "Distinctive immunohistochemical staining for alpha (2) M could be consistently demonstrated in GST-P-negative HAF, HCA, and HCC induced not only by peroxisome proliferators but also N-nitrosodiethylamine alone.", "output": {"entities": {"gene": [{"text": "alpha (2) M", "start": 45, "end": 56}], "disease": [{"text": "HCA", "start": 115, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha (2) M", "start": 45, "end": 56}, "tail": {"text": "HCA", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "This phenomenon is not limited to TGFβ since other growth factors implicated in fibrosis, such as FGF, EGF and PDGF-B, also regulated PDGF-D and PDGF-C expression.", "output": {"entities": {"gene": [{"text": "EGF", "start": 103, "end": 106}], "disease": [{"text": "fibrosis", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Using multivariable logistic regression, older age, increased body mass index, menopausal status, and PGR rs484389 genotype CT were significantly associated with POP.", "output": {"entities": {"gene": [{"text": "PGR", "start": 102, "end": 105}], "disease": [{"text": "body mass index", "start": 62, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.", "output": {"entities": {"gene": [{"text": "transgelin 2", "start": 61, "end": 73}], "disease": [{"text": "HCC", "start": 333, "end": 336}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transgelin 2", "start": 61, "end": 73}, "tail": {"text": "HCC", "start": 333, "end": 336}}]}}, "schema": []}
{"input": "In situ hybridization of serial sections of lung tissue revealed numerous cells positive for NOS2 and TNF-alpha, suggesting that NOS2 and TNF-alpha expression may play a role in the pathophysiology of pleuropneumonia.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 93, "end": 97}], "disease": [{"text": "pleuropneumonia", "start": 201, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Longitudinal analysis with a generalized linear mixed-effect model and with adjustment for age, gender, body mass index and smoking status among individuals not taking anti-hypertensive medication revealed that rs6929846 of BTN2A1 was significantly associated with systolic (P = 0. 0017), diastolic (P = 0. 0008) and mean (P = 0. 0005) BP, and that rs2116519 of FAM78B, rs146021107 of PDX1 and rs1671021 of LLGL2 were significantly associated with diastolic (P = 0. 0495), systolic (P = 0. 0132), and both diastolic (P = 0. 0468) and mean (0. 0471) BP, respectively.", "output": {"entities": {"gene": [{"text": "BTN2A1", "start": 224, "end": 230}], "disease": [{"text": "body mass index", "start": 104, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Tumor-specific low molecular weight forms of cyclin E induce genomic instability and resistance to p21, p27, and antiestrogens in breast cancer.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 45, "end": 53}], "disease": [{"text": "genomic instability", "start": 61, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine & #946;-hydroxylase, much more expressed in tumor tissue.", "output": {"entities": {"gene": [{"text": "MAOA", "start": 37, "end": 41}], "disease": [{"text": "PHEO", "start": 78, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAOA", "start": 37, "end": 41}, "tail": {"text": "PHEO", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "Inhibition of myosin light chain kinase reduces brain edema formation after traumatic brain injury.", "output": {"entities": {"gene": [{"text": "myosin light chain kinase", "start": 14, "end": 39}], "disease": [{"text": "brain edema", "start": 48, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myosin light chain kinase", "start": 14, "end": 39}, "tail": {"text": "brain edema", "start": 48, "end": 59}}]}}, "schema": []}
{"input": "Moreover, poorly invasive breast cancer cells displayed a marked increase in LOX-dependent FAK/Src activation and cell migration following hypoxia/reoxygenation, but not in response to hypoxia alone.", "output": {"entities": {"gene": [{"text": "LOX", "start": 77, "end": 80}], "disease": [{"text": "hypoxia", "start": 139, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "It has been reported that NTM might play a role in late-onset Alzheimer disease while NR3C2 may be associated with cognitive function and major depression.", "output": {"entities": {"gene": [{"text": "NTM", "start": 26, "end": 29}], "disease": [{"text": "major depression", "start": 138, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTM", "start": 26, "end": 29}, "tail": {"text": "major depression", "start": 138, "end": 154}}]}}, "schema": []}
{"input": "We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.", "output": {"entities": {"gene": [{"text": "ROGDI", "start": 120, "end": 125}], "disease": [{"text": "ASD", "start": 194, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ROGDI", "start": 120, "end": 125}, "tail": {"text": "ASD", "start": 194, "end": 197}}]}}, "schema": []}
{"input": "The aim of the present study was to examine the impact of a novel NHE1 inhibitor, sabiporide, on cardiovascular function, blood oxygen transportation, and inflammatory response in an experimental model of metabolic acidosis produced by hemorrhage-induced hypovolemia followed by an infusion of lactic acid.", "output": {"entities": {"gene": [{"text": "NHE1", "start": 66, "end": 70}], "disease": [{"text": "hypovolemia", "start": 255, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "We determined the expression level and the distribution pattern of small leucine-rich repeat proteoglycans (decorin, biglycan, and lumican), collagen and lymphatic vessels in healthy, mild, and severe persistent allergic nasal mucosa.", "output": {"entities": {"gene": [{"text": "biglycan", "start": 117, "end": 125}], "disease": [{"text": "mild", "start": 184, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We hypothesised that gene therapy with BRCA1, a critical regulator of DNA damage repair and cell survival, would attenuate the sequelae of sepsis and peritonitis in mice subjected to caecal ligation and perforation (CLP) and thioglycollate stimulation.", "output": {"entities": {"gene": [{"text": "CLP", "start": 216, "end": 219}], "disease": [{"text": "peritonitis", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Autotaxin mRNAs were quantified in adipose tissue from db/db mice (obese and highly diabetic type 2), gold-thioglucose-treated (GTG) mice (highly obese and moderately diabetic type 2), high-fat diet-fed (HFD) mice (obese and moderately diabetic type 2), streptozotocin-treated mice (thin and diabetic type 1), and massively obese humans with glucose intolerance.", "output": {"entities": {"gene": [{"text": "Autotaxin", "start": 0, "end": 9}], "disease": [{"text": "glucose intolerance", "start": 342, "end": 361}]}, "relations": {}}, "schema": []}
{"input": "These results provide the first evidence of both homo-and heterodimerization of mammalian ABC half-transporters and suggest that the loss of ALDP dimerization plays a role in X-ALD pathogenesis.", "output": {"entities": {"gene": [{"text": "ALDP", "start": 141, "end": 145}], "disease": [{"text": "X-ALD", "start": 175, "end": 180}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALDP", "start": 141, "end": 145}, "tail": {"text": "X-ALD", "start": 175, "end": 180}}]}}, "schema": []}
{"input": "TXNIP transcript and protein levels were significantly elevated in human AML blasts of certain patients, particularly those harboring translocation t (8; 21).", "output": {"entities": {"gene": [{"text": "TXNIP", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "METHODS: Using adenoviral-mediated transfection of human A549 lung cancer cells to over-express eIF5A1 and eIF5A1K50A, the mechanism by which unhypusinated eIF5A1 induces apoptosis was investigated by Western blotting, flow cytometry, and use of MAPK and p53 inhibitors.", "output": {"entities": {"gene": [{"text": "eIF5A1", "start": 96, "end": 102}], "disease": [{"text": "lung cancer", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "MTA1 overexpression in HCT-116 cells enhanced proliferation, adhesion to fibronectin, motility, migration, invasion through Matrigel, anchorage-independent growth, neoangiogenesis and induced a loss of apoptosis.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Aberrant CpG island methylation of the p16 (INK4a) and estrogen receptor genes in rat lung tumors induced by particulate carcinogens.", "output": {"entities": {"gene": [{"text": "estrogen receptor", "start": 55, "end": 72}], "disease": [{"text": "lung tumors", "start": 86, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "estrogen receptor", "start": 55, "end": 72}, "tail": {"text": "lung tumors", "start": 86, "end": 97}}]}}, "schema": []}
{"input": "In conclusion, low-dose simvastatin therapy significantly improves survival and cardiac function and reduces both cardiac hypertrophy and pulmonary edema via an eNOS-dependent mechanism in a murine model of CHF.", "output": {"entities": {"gene": [{"text": "eNOS", "start": 161, "end": 165}], "disease": [{"text": "pulmonary edema", "start": 138, "end": 153}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "eNOS", "start": 161, "end": 165}, "tail": {"text": "pulmonary edema", "start": 138, "end": 153}}]}}, "schema": []}
{"input": "On the other hand, transfer of CagA (-) H. pylori-primed spleen cells into CagA (+) H. pylori-infected RAG2 (-/-) mice induced more severe chronic gastritis with less Foxp3 (+) regulatory T-cell infiltration as compared to transfer of CagA (+) H. pylori-primed spleen cells.", "output": {"entities": {"gene": [{"text": "Foxp3", "start": 167, "end": 172}], "disease": [{"text": "chronic gastritis", "start": 139, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Prolonged inflammation follows activation of the BCL10-NFκB inflammatory loop in response to carrageenan, shown by increased BCL10, RelA, and IL-8 for 36 to 48h and increased RelB for 24h following withdrawal of carrageenan after 12h.", "output": {"entities": {"gene": [{"text": "RelB", "start": 175, "end": 179}], "disease": [{"text": "inflammation", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Sixty consecutive non-smoking patients (mean age 46. 77 +/-4. 96) with moderate to severe chronic periodontitis were treated with scaling and root planing (SRP).", "output": {"entities": {"gene": [{"text": "SRP", "start": 156, "end": 159}], "disease": [{"text": "smoking", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "The RAD51 gene has been localized to chromosome 15q and possesses regulatory functions involving DNA stability and cell proliferation, suggesting its possible role in tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAD51 gene", "start": 4, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 167, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Types and frequencies of in vivo mutation in the hypoxanthine-guanine phosphoribosyl-transferase (HPRT) gene was studied in 142 T cell mutants from 78 healthy nonsmoking and smoking adults with a mean of 65 years.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 98, "end": 102}], "disease": [{"text": "smoking", "start": 162, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Although Dazl-/-mice remained infertile when the DAZ transgene was introduced, histological examination revealed a partial and variable rescue of the mutant phenotype, manifest as a pronounced increase in the germ cell population of the seminiferous tubules and survival to the pachytene stage of meiosis.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 49, "end": 52}], "disease": [{"text": "infertile", "start": 30, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "This study reveals an elaborate but highly organized molecular interplay between Rad51 regulators and has significant implications for understanding tumorigenesis and therapeutic resistance in patients with BRCA2 deficiency.", "output": {"entities": {"gene": [{"text": "Rad51", "start": 81, "end": 86}], "disease": [{"text": "tumorigenesis", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Our previous studies revealed that hypoxia-induced gene expression of human ccn2 mRNA is regulated post-transcriptionally in human chondrosarcoma-derived cell line, HCS-2/8, in which a minimal cis-element, entitled CAESAR, in the 3'-untranslated region (UTR) of ccn2 mRNA and a 35-kDa protein counterpart play an important role by determining the stability of ccn2 mRNA.", "output": {"entities": {"gene": [{"text": "ccn2", "start": 76, "end": 80}], "disease": [{"text": "hypoxia", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Due to limited phenotype-genotype correlation among patients with movement disorders, if \" eye-of-the-tiger \" brain MRI is present, PANK2 mutations investigation are needed to confirm PKAN disease.", "output": {"entities": {"gene": [{"text": "PANK2", "start": 132, "end": 137}], "disease": [{"text": "PKAN", "start": 184, "end": 188}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PANK2", "start": 132, "end": 137}, "tail": {"text": "PKAN", "start": 184, "end": 188}}]}}, "schema": []}
{"input": "Several genetic abnormalities, including mutations in RUNX1 (AML1), TET2, ASXL1 and TP53, have been discovered in a substantial fraction of MDS cases; genes rearranged or mutated less commonly in MDS include IER3, ATRX, RAS and FLT3.", "output": {"entities": {"gene": [{"text": "TET2", "start": 68, "end": 72}], "disease": [{"text": "abnormalities", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Notably, miR-149 down-regulation in clinical HCC tissues was correlated with tumor aggressiveness and poor prognosis of patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 45, "end": 48}], "disease": [{"text": "aggressiveness", "start": 83, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Point-mutated luciferase reporter studies indicated that AP-1 and NF-kappaB-like factor binding elements were mainly responsible for hypoxia-induced increase in IL-8 gene expression in human ovarian cancer cells, and that IL-8 transcription activation by hypoxia required the cooperation of NF-kappaB and AP-1 binding sites.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 57, "end": 61}], "disease": [{"text": "hypoxia", "start": 133, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "These collective data indicated that REG3A overexpression promotes CRC tumorigenesis by activating AKT and ERK1/2 pathways.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 107, "end": 111}], "disease": [{"text": "tumorigenesis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "To determine the relationship between early NF2 gene inactivation and the molecular mechanisms that may contribute to meningioma tumor progression, we have performed deletion mapping analysis at chromosomes 1, 14 and 22 in a series of 81 sporadic meningiomas (54 grade I (typical), 25 grade II (atypical) and two grade III (anaplastic)), which were also studied for NF2 gene mutations.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 44, "end": 52}], "disease": [{"text": "sporadic", "start": 238, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "CHGA, BMI, and leptin each displayed substantial h (2), and the traits also aggregated with several features of the metabolic syndrome (e. g., insulin resistance, blood pressure (BP), hypertension, catecholamines, and C-reactive protein (CRP)).", "output": {"entities": {"gene": [{"text": "CRP", "start": 238, "end": 241}], "disease": [{"text": "insulin resistance", "start": 143, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "These findings show for the first time in an animal model that acute hepatitis impairs the repair of oxidative DNA base damage and strongly suggest that the repair of endogenous DNA adducts plays a critical role in the development of spontaneous hepatocellular carcinoma in LEC rats.", "output": {"entities": {"gene": [{"text": "LEC", "start": 274, "end": 277}], "disease": [{"text": "acute hepatitis", "start": 63, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome).", "output": {"entities": {"gene": [{"text": "RAB3GAP2", "start": 74, "end": 82}], "disease": [{"text": "Martsolf syndrome", "start": 211, "end": 228}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB3GAP2", "start": 74, "end": 82}, "tail": {"text": "Martsolf syndrome", "start": 211, "end": 228}}]}}, "schema": []}
{"input": "Human ApoE ε4 alters circadian rhythm activity, IL-1β, and GFAP in CRND8 mice.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 59, "end": 63}], "disease": [{"text": "circadian rhythm", "start": 21, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The dissociation of the 4E-BP-eIF4E complex, a key event in the cap-dependent mRNA translation initiation, is dramatically reduced in LPS-stimulated Cot/tpl2-knockout (KO) macrophages versus LPS-stimulated wild-type (Wt) macrophages.", "output": {"entities": {"gene": [{"text": "tpl2", "start": 153, "end": 157}], "disease": [{"text": "dissociation", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Malignant mucoepidermoid salivary gland tumors, as well as a growing number of solid epithelial-derived tumors, can arise from a recurrent t (11, 19) (q21; p13. 1) translocation that generates an unusual chimeric cAMP response element binding protein (CREB)-regulated transcriptional coactivator 1 (CRTC1)/mastermind-like 2 (MAML2) (C1/M2) oncoprotein comprised of two transcriptional coactivators, the CRTC1 and the NOTCH/RBPJ coactivator MAML2.", "output": {"entities": {"gene": [{"text": "RBPJ", "start": 423, "end": 427}], "disease": [{"text": "translocation", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "After 7 days of a high-sodium diet (220 mmol Na (+) per day), we measured in 42 essential hypertensive patients blood pressure, heart rate, effective renal plasma flow (ERPF), glomerular filtration rate (GFR), active plasma renin concentration, aldosterone, and atrial natriuretic peptide (ANP) before and during Ang II infusion (increasing doses of 0. 3, 1. 0, and 3. 0 ng/kg per minute).", "output": {"entities": {"gene": [{"text": "ANP", "start": 290, "end": 293}], "disease": [{"text": "heart rate", "start": 128, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "TAL1 gene rearrangement was found in one case, while loss of heterozygosity (LOH) and microsatellite instability (MI) was identified in another case.", "output": {"entities": {"gene": [{"text": "TAL1 gene", "start": 0, "end": 9}], "disease": [{"text": "microsatellite instability", "start": 86, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The selective cyclooxygenase-2 (COX-2) and 5-lipoxygenase (LOX) inhibitors might inhibit prostaglandin synthesis and reduce proteinuria.", "output": {"entities": {"gene": [{"text": "5-lipoxygenase", "start": 43, "end": 57}], "disease": [{"text": "proteinuria", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of the association of SHH mutations and uveoretinal coloboma.", "output": {"entities": {"gene": [{"text": "SHH", "start": 47, "end": 50}], "disease": [{"text": "uveoretinal coloboma", "start": 65, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Key role of the RhoA/Rho kinase system in pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 21, "end": 31}], "disease": [{"text": "pulmonary hypertension", "start": 42, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "To identify the translocation partners, these cases were further studied with probes for the MYC, BCL2, BCL6, BCL3, REL/BCL11A, JAK2/PDCD1LG2 (alias PDL2) C14orf43, and C2TA loci.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 110, "end": 114}], "disease": [{"text": "translocation", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "However, our study indicates that a fraction of sporadic LAM can be a TSC1 disease; therefore, both TSC genes should be examined, even for patients with sporadic LAM.", "output": {"entities": {"gene": [{"text": "TSC", "start": 70, "end": 73}], "disease": [{"text": "TSC1", "start": 70, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSC", "start": 70, "end": 73}, "tail": {"text": "TSC1", "start": 70, "end": 74}}]}}, "schema": []}
{"input": "Therefore, subtelomeric FISH analysis is indicated as a second tier test after high-resolution G-banding analysis, in subjects with otherwise unexplained developmental delay/MR and/or MCA.", "output": {"entities": {"gene": [{"text": "FISH", "start": 24, "end": 28}], "disease": [{"text": "developmental delay", "start": 154, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In rodents, heat generation and the burning of calories by the mitochondrial uncoupling protein 1 (UCP1) are important for metabolic control.", "output": {"entities": {"gene": [{"text": "mitochondrial uncoupling protein 1", "start": 63, "end": 97}], "disease": [{"text": "burning", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.", "output": {"entities": {"gene": [{"text": "ANKH", "start": 130, "end": 134}], "disease": [{"text": "calcium pyrophosphate dihydrate deposition disease", "start": 28, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ANKH", "start": 130, "end": 134}, "tail": {"text": "calcium pyrophosphate dihydrate deposition disease", "start": 28, "end": 78}}]}}, "schema": []}
{"input": "Nine patients with lactase-persistence genotype (LCT-13910CT or LCT-13910TT) had normolactasia, eleven patients with hypolactasia genotype (LCT-13910CC) had severe hypolactasia, and among twelve with mild hypolactasia, except for one that had LCT-13910CT genotype, all the others had hypolactasia genotype.", "output": {"entities": {"gene": [{"text": "LCT", "start": 49, "end": 52}], "disease": [{"text": "mild", "start": 200, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that hypoxia activates SphK2 to promote the synthesis and release of S1P, which in turn binds to S1P (1)/S1P (3) receptors, thus activating p42/44 mitogen-activated protein kinase to convey autocrine or paracrine protection of A549 cells.", "output": {"entities": {"gene": [{"text": "p42", "start": 157, "end": 160}], "disease": [{"text": "hypoxia", "start": 22, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Atrophy in FAD is observed early, both in areas commonly associated with sporadic Alzheimer disease and also in the putamen and thalamus, 2 regions associated with early amyloid deposition in FAD mutation carriers.", "output": {"entities": {"gene": [{"text": "FAD", "start": 11, "end": 14}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "RYR1-related myopathies are usually of early-childhood onset.", "output": {"entities": {"gene": [{"text": "RYR1", "start": 0, "end": 4}], "disease": [{"text": "childhood onset", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Troglitazone inhibited the growth of human cholangiocarcinoma cell lines by inducing apoptosis and by cell cycle regulation (G1 arrest), and this was associated with caspase 3 and caspase 9 activation.", "output": {"entities": {"gene": [{"text": "caspase 9", "start": 180, "end": 189}], "disease": [{"text": "cholangiocarcinoma", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "E (+) B10 (A (+) E (+)) mice were also depleted of CD4 (+) CD25 (+) T cells before the challenge to determine their role in thyroiditis in the presence of both H2A and H2E genes.", "output": {"entities": {"gene": [{"text": "CD4", "start": 51, "end": 54}], "disease": [{"text": "thyroiditis", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Extracellular signal-regulated kinase (ERK) phosphorylation was decreased in the CA1 region with time after ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 81, "end": 84}], "disease": [{"text": "ischemia", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Fatty acid oxidation defects (FAOD), glycogen storage disease, and mitochondrial myopathies represent the 3 main groups of disorders, and some consider myoadenylate deaminase (AMPD1 deficiency) to be a metabolic myopathy.", "output": {"entities": {"gene": [{"text": "myoadenylate deaminase", "start": 152, "end": 174}], "disease": [{"text": "AMPD1 deficiency", "start": 176, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myoadenylate deaminase", "start": 152, "end": 174}, "tail": {"text": "AMPD1 deficiency", "start": 176, "end": 192}}]}}, "schema": []}
{"input": "Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber' s Disease.", "output": {"entities": {"gene": [{"text": "ASAH1", "start": 56, "end": 61}], "disease": [{"text": "Farber' s Disease", "start": 113, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ASAH1", "start": 56, "end": 61}, "tail": {"text": "Farber' s Disease", "start": 113, "end": 130}}]}}, "schema": []}
{"input": "Here, we examined the effects of epigallocathechin gallate (EGCG) on STAT3 signaling in pancreatic cancer cells, and assessed the therapeutic potential of EGCG with gemcitabine or JAK3 inhibitor CP690550 (Tasocitinib) for the treatment and/or prevention of pancreatic cancer.", "output": {"entities": {"gene": [{"text": "JAK3", "start": 180, "end": 184}], "disease": [{"text": "pancreatic cancer", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Dysregulation of Tensin expression has previously been implicated in human cancer.", "output": {"entities": {"gene": [{"text": "Tensin", "start": 17, "end": 23}], "disease": [{"text": "cancer", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and early pregnancy loss.", "output": {"entities": {"gene": [{"text": "Plasminogen activator inhibitor 1", "start": 0, "end": 33}], "disease": [{"text": "early pregnancy loss", "start": 130, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "To investigate if genes associated with cleft lip/palate were also associated with oral cancer, we genotyped 188 individuals with OSCC and 225 control individuals for markers in AXIN2, AXIN1, GSK3β, WNT3A, WNT5A, WNT8A, WNT11, WNT3, and WNT9B.", "output": {"entities": {"gene": [{"text": "AXIN1", "start": 185, "end": 190}], "disease": [{"text": "cleft lip/palate", "start": 40, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "It has been reported that the nicotinic acetylcholine receptor subunit α4 gene (CHRNA4) might be associated with smoking behaviors in the previous studies.", "output": {"entities": {"gene": [{"text": "CHRNA4", "start": 80, "end": 86}], "disease": [{"text": "smoking behaviors", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).", "output": {"entities": {"gene": [{"text": "CCNL1", "start": 341, "end": 346}], "disease": [{"text": "alcohol consumption", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Increases in HSF1 translocation and synthesis in human epidermoid A-431 cells: role of protein kinase C and [Ca2 +] i.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 13, "end": 17}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The DNA index (DI) and S-phase fraction (SPF) have been said to be independent factors in colorectal adenocarcinoma and have a different distribution from the clinicohistologic parameters.", "output": {"entities": {"gene": [{"text": "SPF", "start": 41, "end": 44}], "disease": [{"text": "colorectal adenocarcinoma", "start": 90, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Since adrenomedullin (AM) elicits vasodilatation by binding to specific AM receptors consisted of calcitonin-receptor-like receptor (CRLR)/receptor-activity-modifying protein 2 (RAMP2) or CRLR/receptor-activity-modifying protein 3 (RAMP3) on endothelial cells and stimulating nitric oxide production, AM possibly involves in glomerular capillary dilatation in early phase of diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "RAMP2", "start": 178, "end": 183}], "disease": [{"text": "dilatation", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "As the percentage of apoptosis decreased, there was a significantly higher increase of both CD4 (+) and CD4 (+) naive T cells in arm II vs arm I. HIV plasma viremia was reduced in all patients after therapy.", "output": {"entities": {"gene": [{"text": "CD4", "start": 92, "end": 95}], "disease": [{"text": "viremia", "start": 157, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "High SPAG9 expression (> 60% SPAG9 positive cells) was found to be significantly associated with superficial non-muscle invasive stage (P = 0. 042) and low grade tumors (P = 0. 002) suggesting SPAG9 putative role in early spread and tumorigenesis.", "output": {"entities": {"gene": [{"text": "SPAG9", "start": 5, "end": 10}], "disease": [{"text": "tumorigenesis", "start": 233, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Jnk-2-/-animals were protected from hepatic ischemia reperfusion injury.", "output": {"entities": {"gene": [{"text": "Jnk-2", "start": 0, "end": 5}], "disease": [{"text": "ischemia reperfusion injury", "start": 44, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Jnk-2", "start": 0, "end": 5}, "tail": {"text": "ischemia reperfusion injury", "start": 44, "end": 71}}]}}, "schema": []}
{"input": "Multifocal occurrence, potential malignancy, genetic aspects, possible coincidence of thyroid carcinoma, and hormone production have to be considered in patients with head and neck PGLs.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 181, "end": 185}], "disease": [{"text": "malignancy", "start": 33, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "To uncover this, we performed PCR array analysis using the HCT116 cell line, a positive control for C4. 4A expression and we found that Tenascin-C (TNC) among the many adhesion molecules and extracellular matrix proteins was the best candidate for C4. 4A molecule induction.", "output": {"entities": {"gene": [{"text": "C4. 4A", "start": 248, "end": 254}], "disease": [{"text": "adhesion", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The goal of this study was to determine the incidence of NSD1 abnormalities in patients referred to a clinical laboratory for testing and to identify clinical criteria that distinguish between patients with and without NSD1 abnormalities.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 57, "end": 61}], "disease": [{"text": "abnormalities", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.", "output": {"entities": {"gene": [{"text": "BRAT1", "start": 90, "end": 95}], "disease": [{"text": "Lethal neonatal rigidity and multifocal seizure syndrome", "start": 0, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRAT1", "start": 90, "end": 95}, "tail": {"text": "Lethal neonatal rigidity and multifocal seizure syndrome", "start": 0, "end": 56}}]}}, "schema": []}
{"input": "The objective of the study was to investigate the significance of LC3 and beclin 1 in the pancreas of rat after acute necrotizing pancreatitis (ANP) and whether nuclear factor κB (NF-κB) signal regulates autophagy during sodium taurocholate-induced ANP.", "output": {"entities": {"gene": [{"text": "LC3", "start": 66, "end": 69}], "disease": [{"text": "acute necrotizing pancreatitis", "start": 112, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "CD4 (+) T-cell subsets lacking surface CD28 in peripheral blood have been suggested to predispose people to atherosclerosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "atherosclerosis", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Glucocorticoids suppress inflammation via the upregulation of negative regulator IRAK-M.", "output": {"entities": {"gene": [{"text": "IRAK-M", "start": 81, "end": 87}], "disease": [{"text": "inflammation", "start": 25, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Incubation of the complex under acidic conditions resulted in dissociation and degradation of the inhibitory propeptide leading to increased enzymatic activity, as also observed for partially purified cathepsin B isoenzymes from purulent sputum and mammary tumor explant media.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 201, "end": 212}], "disease": [{"text": "dissociation", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pigmentosum group C.", "output": {"entities": {"gene": [{"text": "XPCC", "start": 76, "end": 80}], "disease": [{"text": "Xeroderma pigmentosum group C", "start": 87, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XPCC", "start": 76, "end": 80}, "tail": {"text": "Xeroderma pigmentosum group C", "start": 87, "end": 116}}]}}, "schema": []}
{"input": "Down-regulation of XAF1 in association with hypermethylation was detected in 3 of 4 human gastric cancer cell lines and 6 of 8 colon cancer cell lines.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 19, "end": 23}], "disease": [{"text": "gastric cancer", "start": 90, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XAF1", "start": 19, "end": 23}, "tail": {"text": "gastric cancer", "start": 90, "end": 104}}]}}, "schema": []}
{"input": "Inhibitors of HDAC are a novel class of therapeutic agents in diabetic nephropathy, but currently available inhibitors are mostly nonselective inhibit multiple HDACs, and different HDACs serve very distinct functions.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 14, "end": 18}], "disease": [{"text": "diabetic nephropathy", "start": 62, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We observed a significant positive correlation between layers II and IV of the dorso-lateral prefrontal cortex (DLPFC) in the percentage of MR-GEF expressing neurons in individuals with bipolar disorder, but not in individuals with schizophrenia, major depressive disorder or in controls.", "output": {"entities": {"gene": [{"text": "MR-GEF", "start": 140, "end": 146}], "disease": [{"text": "major depressive disorder", "start": 247, "end": 272}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MR-GEF", "start": 140, "end": 146}, "tail": {"text": "major depressive disorder", "start": 247, "end": 272}}]}}, "schema": []}
{"input": "The p53 mutational spectrum from ovarian cancers containing either somatic or germ-line BRCA1 mutations was compared with that of sporadic ovarian cancers defined as those diagnosed with a negative family history for breast/ovarian cancer in a three-generation pedigree.", "output": {"entities": {"gene": [{"text": "p53", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Etanercept, a soluble TNF receptor, and TNFR1 deficiency protected against the depression in diaphragm-specific force caused by doxorubicin.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 40, "end": 45}], "disease": [{"text": "depression", "start": 79, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFR1", "start": 40, "end": 45}, "tail": {"text": "depression", "start": 79, "end": 89}}]}}, "schema": []}
{"input": "In the clinical cases neither food allergy nor FLG mutations had a significant effect.", "output": {"entities": {"gene": [{"text": "FLG", "start": 47, "end": 50}], "disease": [{"text": "food allergy", "start": 30, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Conversely, FoxO1 loss of function, caused by hepatic production of its dominant-negative variant, suppressed hepatic gluconeogenesis, resulting in enhanced glucose disposal and improved insulin sensitivity in db/db mice.", "output": {"entities": {"gene": [{"text": "FoxO1", "start": 12, "end": 17}], "disease": [{"text": "insulin sensitivity", "start": 187, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma.", "output": {"entities": {"gene": [{"text": "EWS", "start": 270, "end": 273}], "disease": [{"text": "translocation", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "This finding is in line with the finding of constitutive DNA damage checkpoint activation (p-Chk2, γ-H2AX) and evidence for replicative stress causing genomic instability (increased cyclin E, retinoblastoma, or E2F1 mRNA expression) in FTC but not FA.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 182, "end": 190}], "disease": [{"text": "genomic instability", "start": 151, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "However, the exact role of AURKA in the regulation of neuroblastoma tumorigenesis remains unknown.", "output": {"entities": {"gene": [{"text": "AURKA", "start": 27, "end": 32}], "disease": [{"text": "tumorigenesis", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "The results showed that CXCR4 silencing could inhibit the cell invasive and adhesion potentials, expression of N-cadherin, vimentin, β-catenin, TGF-β1, p-Smad2, and p-Akt, and the activity of transcription factors NF-κB, AP-1, Snail, and twist.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 214, "end": 219}], "disease": [{"text": "adhesion", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Transfection studies revealed that overexpression of wild-type or proteolytically inactive Lon promoted assembly of COX II into a COX I-containing complex, and partially prevented mitochondrial dysfunction caused by brefeldin A or hypoxia.", "output": {"entities": {"gene": [{"text": "COX", "start": 116, "end": 119}], "disease": [{"text": "hypoxia", "start": 231, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "The authors prospectively studied the clinical features of benign convulsions with mild gastroenteritis in Taiwanese children and clarified the relationship between neuronal sodium channel alpha 1 subunit (SCN1A) gene and benign convulsions with mild gastroenteritis.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 206, "end": 211}], "disease": [{"text": "mild", "start": 83, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Although the molecular basis of genomic instability in sporadic colorectal cancers remains largely a mystery, mutation of the p53 tumor suppressor gene (also known as TP53) has been proposed to play an integral role in this process.", "output": {"entities": {"gene": [{"text": "TP53", "start": 167, "end": 171}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, significantly higher levels of pSTAT3, RORc, and IL-17A, and significantly lower levels of SOCS3 were found in the atopic group than in the non-atopic group (P < 0. 05).", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 104, "end": 109}], "disease": [{"text": "atopic", "start": 128, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Distinct morphologic features of this entity include marrow basophilia and myelodysplasia, and immunophenotypically, the blast cells are positive for CD9, CD13, CD33, and HLA-DR; are usually positive for CD45 and CD38; and may be positive for CD15, CD34, and terminal deoxynucleotidyl transferase.", "output": {"entities": {"gene": [{"text": "CD9", "start": 150, "end": 153}], "disease": [{"text": "basophilia", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Studies on the functional effects of pathogenic dominant mutations have shown that they mostly affect intracellular Ca2 + homoeostasis, either by rendering the channel hypersensitive to activation (malignant hyperthermia) or by altering the amount of Ca2 + released subsequent to physiological or pharmacological activation (central core disease).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 116, "end": 119}], "disease": [{"text": "malignant hyperthermia", "start": 198, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "We have investigated whether a ERBB2 gene dosage effect might provoke increased biological aggressiveness and altered trastuzumab sensitivity.", "output": {"entities": {"gene": [{"text": "ERBB2 gene", "start": 31, "end": 41}], "disease": [{"text": "aggressiveness", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Testing various multivariate Cox regression models, KPNA2 expression remained a highly significant, independent and adverse risk factor for overall survival.", "output": {"entities": {"gene": [{"text": "KPNA2", "start": 52, "end": 57}], "disease": [{"text": "regression", "start": 33, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis indicated statistically elevated nuclear expression for Id4 protein in carcinomas in comparison to adenomas and normal mammary gland.", "output": {"entities": {"gene": [{"text": "Id4", "start": 85, "end": 88}], "disease": [{"text": "carcinomas", "start": 100, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Id4", "start": 85, "end": 88}, "tail": {"text": "carcinomas", "start": 100, "end": 110}}]}}, "schema": []}
{"input": "The effect of OXT is distinct from the epidermal growth factor (EGF)-induced migration of prostate cancer cells, in which ERK1/2 and EGF receptor kinase activities were required.", "output": {"entities": {"gene": [{"text": "OXT", "start": 14, "end": 17}], "disease": [{"text": "prostate cancer", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Forced expression of CXCL14 in H23 cells, where this gene is silenced by methylation, increased cell death in vitro and dramatically reduced the in vivo growth of lung tumor xenografts through necrosis of up to 90% of the tumor mass.", "output": {"entities": {"gene": [{"text": "CXCL14", "start": 21, "end": 27}], "disease": [{"text": "lung tumor", "start": 163, "end": 173}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CXCL14", "start": 21, "end": 27}, "tail": {"text": "lung tumor", "start": 163, "end": 173}}]}}, "schema": []}
{"input": "Potential role of estradiol and progesterone in insulin resistance through constitutive androstane receptor.", "output": {"entities": {"gene": [{"text": "constitutive androstane receptor", "start": 75, "end": 107}], "disease": [{"text": "insulin resistance", "start": 48, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "GAPO syndrome' s major phenotypic features, which include dental abnormalities and the accumulation of extracellular matrix, recapitulate those found in Antxr1-mutant mice and point toward an underlying defect in extracellular-matrix regulation.", "output": {"entities": {"gene": [{"text": "Antxr1", "start": 153, "end": 159}], "disease": [{"text": "GAPO syndrome", "start": 0, "end": 13}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Antxr1", "start": 153, "end": 159}, "tail": {"text": "GAPO syndrome", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "By combining several such studies, we show in this study that somatic TP53 abnormalities are more common in breast cancer associated with BRCA1 or BRCA2 germ-line mutations than in sporadic breast cancers (odds ratio, 2. 8; P = 0. 0003).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 147, "end": 152}], "disease": [{"text": "sporadic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study was to explore the association between OPG, RANKL, and RANK gene variations and the bone mineral density (BMD) response to alendronate therapy in postmenopausal Chinese women with osteoporosis or osteopenia.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 65, "end": 70}], "disease": [{"text": "bone mineral density", "start": 105, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "More than 90% of Ewing' s sarcomas (ES) contain a fusion of the EWS and FLI1 genes, due to the t (11; 22) (q24; q12) translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 64, "end": 67}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Individuals carrying the XRCC1 Trp/Trp or Arg/Trp variant genotype were at significantly increased risk of noncardia GC (adjusted OR, 1. 48; 95% CI, 1. 00-2. 17), after adjustment for family history of cancer, drinking, and smoking.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 25, "end": 30}], "disease": [{"text": "smoking", "start": 224, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "In an in vivo study using an isoproterenol-induced cardiac hypertrophy animal model, an acute infusion of ANG-(1-7) increased the plasma concentration of ANP by twofold without changes in blood pressure and heart rate.", "output": {"entities": {"gene": [{"text": "ANP", "start": 154, "end": 157}], "disease": [{"text": "heart rate", "start": 207, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue' s syndrome in a human subject.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 43, "end": 59}], "disease": [{"text": "Donohue' s syndrome", "start": 150, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 43, "end": 59}, "tail": {"text": "Donohue' s syndrome", "start": 150, "end": 169}}]}}, "schema": []}
{"input": "Production of IL-10 was measured following in vitro stimulation of PBMC using whole parasite extract (SWAP) or a panel of recombinant Schistosoma japonicum antigens (22-kDa tegumental membrane-associated antigen, glyceraldehyde-3-phosphate dehydrogenase, paramyosin, 14-kDa fatty acid-binding protein and 28-kDa glutathione S-transferase) which are of recognized interest in the development of protective immunity to schistosomiasis.", "output": {"entities": {"gene": [{"text": "SWAP", "start": 102, "end": 106}], "disease": [{"text": "schistosomiasis", "start": 417, "end": 432}]}, "relations": {}}, "schema": []}
{"input": "The expression of adhesion molecules including LFA-1 alpha, LFA-1 beta, CD2, VLA-4 alpha and VLA-5 alpha on CD4 + cells in the thyroid gland was markedly higher than that in peripheral blood.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 47, "end": 52}], "disease": [{"text": "adhesion", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to the development of sporadic PDB and familial PDB that is not caused by SQSTM1 mutations.", "output": {"entities": {"gene": [{"text": "OPG", "start": 82, "end": 85}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Our data in the present study, combing our previous report, suggested that in the endogenous formaldehyde-induced pain in bone cancer pain rats, LSD1 in metastasized cancer cells contributed to the production of the endogenous formaldehyde.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 145, "end": 149}], "disease": [{"text": "bone cancer", "start": 122, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The effect of a TNFα-producing adipose tissue-derived MSC (AT-MSC/hTNFα) was tested on the tumour cell lines of different origins: melanoma (A375), breast carcinoma (SKBR3, MDA-MB-231), colon carcinoma (HT29), ovarian carcinoma (SKOV3) and glioblastoma (U87-MG) cells.", "output": {"entities": {"gene": [{"text": "U87", "start": 254, "end": 257}], "disease": [{"text": "melanoma", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "SLC6A4, TPH2, and SERPINA6 might be novel candidate genes for this common congenital anomaly.", "output": {"entities": {"gene": [{"text": "SLC6A4", "start": 0, "end": 6}], "disease": [{"text": "congenital anomaly", "start": 74, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Which of the many functions of Rad9 are causally related to initiation and progression of tumorigenesis and the mechanistic details by which Rad9 induces or suppresses tumorigenesis are presently not known, but are crucial for the development of targeted therapeutic interventions.", "output": {"entities": {"gene": [{"text": "Rad9", "start": 31, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "These results show that SAC has potential as an agent against tumour growth and the progression of oral cancer in a mouse xenograft model.", "output": {"entities": {"gene": [{"text": "SAC", "start": 24, "end": 27}], "disease": [{"text": "oral cancer", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Enhanced expression of interleukin-18 receptor alpha chain by CD4 + T cells in sarcoidosis.", "output": {"entities": {"gene": [{"text": "CD4", "start": 62, "end": 65}], "disease": [{"text": "sarcoidosis", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "V642I mutation in amyloid precursor protein (APP) co-segregates with FAD with perfect penetration, and the clinicopathological characteristics of patients with this mutation resemble that of sporadic AD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 69, "end": 72}], "disease": [{"text": "sporadic", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Our data show that HSP70 gene variants are associated with serious CBZ hypersensitivity reactions, but whether this is causal or reflects LD with another gene within the MHC requires further study.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 19, "end": 24}], "disease": [{"text": "hypersensitivity reactions", "start": 71, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "To approach this issue the present study examined BDNF secretion from brain endothelial cells in response to reduced oxygen availability (hypoxia), using the mouse brain microvascular endothelial cell line, bEnd. 3.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 138, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BDNF", "start": 50, "end": 54}, "tail": {"text": "hypoxia", "start": 138, "end": 145}}]}}, "schema": []}
{"input": "Overall, results do not show differences in cardiovascular risk in obese youth when categorized by PACER, PedsQL, or reports of MSK pain.", "output": {"entities": {"gene": [{"text": "MSK", "start": 128, "end": 131}], "disease": [{"text": "obese", "start": 67, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in vitro coculture, experiments on Transwell plates, and in vivo survival experiments showed that MSC-based stTRAIL gene delivery has more therapeutic efficacy compared with direct injection of adenovirus encoding the stTRAIL gene into a tumor mass.", "output": {"entities": {"gene": [{"text": "MSC", "start": 108, "end": 111}], "disease": [{"text": "adenovirus", "start": 204, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Sex steroid hormone-induced ASP resistance via C5L2 may contribute to altered adipose tissue function and insulin resistance phenotype in humans.", "output": {"entities": {"gene": [{"text": "ASP", "start": 28, "end": 31}], "disease": [{"text": "insulin resistance", "start": 106, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "FSTL1 has previously been implicated in diverse disease processes as a regulator of inflammatory cytokine expression, and we therefore evaluated the response of the genetrap strain to cisplatin-mediated acute kidney injury, a disease model with highly cytokine-dependent pathology.", "output": {"entities": {"gene": [{"text": "FSTL1", "start": 0, "end": 5}], "disease": [{"text": "acute kidney injury", "start": 203, "end": 222}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FSTL1", "start": 0, "end": 5}, "tail": {"text": "acute kidney injury", "start": 203, "end": 222}}]}}, "schema": []}
{"input": "Since Nrf2 was determined to be a susceptibility gene for a model of acute lung injury, its protective capacity in the airways has been demonstrated in experimental models of human disorders using Nrf2 mutant mice which were susceptible to supplemental respiratory therapy (e. g., hyperoxia, mechanical ventilation), cigarette smoke, allergens, virus, environmental pollutants, and fibrotic agents compared to wild-type littermates.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 6, "end": 10}], "disease": [{"text": "hyperoxia", "start": 281, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein.", "output": {"entities": {"gene": [{"text": "ATM", "start": 153, "end": 156}], "disease": [{"text": "A-T", "start": 29, "end": 32}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 153, "end": 156}, "tail": {"text": "A-T", "start": 29, "end": 32}}]}}, "schema": []}
{"input": "However, CCS is genetically distinct owing to its consistent association with a t (12; 22) (q13; q12) chromosomal translocation, leading to the formation of the EWS/ATF1 fusion transcript.", "output": {"entities": {"gene": [{"text": "EWS", "start": 161, "end": 164}], "disease": [{"text": "chromosomal translocation", "start": 102, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "To use pCN2 to study chromosome 9p abnormalities in malignancies, we undertook to localize the pCN2 crosshybridizing region in chromosome 9p.", "output": {"entities": {"gene": [{"text": "pCN2", "start": 7, "end": 11}], "disease": [{"text": "abnormalities", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The antiamnesic activity of nerve growth factor (NGF) in various medicinal forms [aqueous NGF solution with and without polysorbate-80 (PS-80) additives, NGF adsorbed on poly (butyl) cyanoacrylate (PBCA) nanoparticles with and without PS-80 coating] has been studied in rats with model amnesia induced by scopolamine (2 mg/kg, s. c.).", "output": {"entities": {"gene": [{"text": "nerve growth factor", "start": 28, "end": 47}], "disease": [{"text": "amnesia", "start": 286, "end": 293}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "nerve growth factor", "start": 28, "end": 47}, "tail": {"text": "amnesia", "start": 286, "end": 293}}]}}, "schema": []}
{"input": "At day 7, there was intimal proliferation associated with pronounced expression of UII in myointimal cells.", "output": {"entities": {"gene": [{"text": "UII", "start": 83, "end": 86}], "disease": [{"text": "intimal proliferation", "start": 20, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Evidently, abrogation of p53 function did not affect the hypersensitivity to apoptotic stimuli.", "output": {"entities": {"gene": [{"text": "p53", "start": 25, "end": 28}], "disease": [{"text": "hypersensitivity", "start": 57, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The study group consisted of 310 infertile patients: 115 with azoospermia and 195 with oligoasthenoteratozoospermia (OAT) and a control group of 250 fertile men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 117, "end": 120}], "disease": [{"text": "infertile", "start": 33, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "SCC lesions showed the highest AgNOR rate among the investigated epithelial neoplasms, followed in order by BD, BCC, SK, and SEB lesions.", "output": {"entities": {"gene": [{"text": "SEB", "start": 125, "end": 128}], "disease": [{"text": "epithelial neoplasms", "start": 65, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Messenger RNA levels of SCO2 were significantly downregulated in myopic mouse retinae.", "output": {"entities": {"gene": [{"text": "SCO2", "start": 24, "end": 28}], "disease": [{"text": "myopic", "start": 65, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCO2", "start": 24, "end": 28}, "tail": {"text": "myopic", "start": 65, "end": 71}}]}}, "schema": []}
{"input": "LMP1 promotes the interactions of heterodimeric NF-kappaB (p52/p65) and heterodimeric AP-1 (c-Jun/c-Fos) transcription factors with the human iE kappa enhancer region are important for the upregulation of kappa light chain in LMP1-positive nasopharyngeal carcinoma cells.", "output": {"entities": {"gene": [{"text": "p52", "start": 59, "end": 62}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 240, "end": 264}]}, "relations": {}}, "schema": []}
{"input": "In aggregate, these results indicate that most CD8 + cells in CD3 + CD4 + MF skin lesions are of T-cell rather than NK-cell differentiation.", "output": {"entities": {"gene": [{"text": "CD8", "start": 47, "end": 50}], "disease": [{"text": "skin lesions", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Similarly affected family members suggests benign familial \" KCNQ-related \" epilepsy, whereas neonatal seizures with unexplained multifocal epileptiform discharges or burst suppression on electroencephalography, and acute abnormalities of the basal ganglia/thalami are suggestive of KCNQ2-encephalopathy, which is often sporadic.", "output": {"entities": {"gene": [{"text": "KCNQ2", "start": 283, "end": 288}], "disease": [{"text": "multifocal epileptiform discharges", "start": 129, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c. 364A & gt; C (K121Q) detected in a female patient with nonclassical 21-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "CYP21A2", "start": 83, "end": 90}], "disease": [{"text": "21-hydroxylase deficiency", "start": 180, "end": 205}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21A2", "start": 83, "end": 90}, "tail": {"text": "21-hydroxylase deficiency", "start": 180, "end": 205}}]}}, "schema": []}
{"input": "We have previously demonstrated a synergistic effect of combining the Th1 stimulating cytokine IL-12 with the co-stimulatory molecule CD80 in murine myeloma vaccination therapy.", "output": {"entities": {"gene": [{"text": "Th1", "start": 70, "end": 73}], "disease": [{"text": "myeloma", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Confocal immunofluorescence microscopy was used to identify sites of bFGF and FGF receptor 1 (FGFR1) expression after focal injury or experimental retinal detachment in adult rats.", "output": {"entities": {"gene": [{"text": "FGF receptor", "start": 78, "end": 90}], "disease": [{"text": "retinal detachment", "start": 147, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Three of the genes, QPCT, CYP1B1, and LXN, are densely methylated in & gt; 95% of uncultured melanoma tumor samples.", "output": {"entities": {"gene": [{"text": "LXN", "start": 38, "end": 41}], "disease": [{"text": "melanoma", "start": 93, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LXN", "start": 38, "end": 41}, "tail": {"text": "melanoma", "start": 93, "end": 101}}]}}, "schema": []}
{"input": "IFN beta combined with agents that inhibit NF-kappaB could have therapeutic potential in the treatment of children with mixed lineage leukemia subtype ALL.", "output": {"entities": {"gene": [{"text": "IFN", "start": 0, "end": 3}], "disease": [{"text": "mixed lineage leukemia", "start": 120, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 20, "end": 31}], "disease": [{"text": "thoracic aortic aneurysm", "start": 64, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that familial amyotrophic lateral sclerosis-linked SOD1 aggregation occurs by a mutation-induced increase in dimer dissociation and/or increase in apomonomer formation.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 71, "end": 75}], "disease": [{"text": "dissociation", "start": 135, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Aberrant activation of the major effector and transcription co-activator YAP in the Hippo pathway causes drastic organ enlargement in development and underlies tumorigenesis in many human cancers.", "output": {"entities": {"gene": [{"text": "YAP", "start": 73, "end": 76}], "disease": [{"text": "enlargement", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We sought to investigate the presence of the HHV 8 genome in skin lesions of LPP and early-stage sporadic, familial, and juvenile MF in patients in Israel.", "output": {"entities": {"gene": [{"text": "LPP", "start": 77, "end": 80}], "disease": [{"text": "sporadic", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases,' congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy.", "output": {"entities": {"gene": [{"text": "ACTA1", "start": 77, "end": 82}], "disease": [{"text": "actin myopathy", "start": 191, "end": 205}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACTA1", "start": 77, "end": 82}, "tail": {"text": "actin myopathy", "start": 191, "end": 205}}]}}, "schema": []}
{"input": "Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "hydroxymethylbilane synthase", "start": 54, "end": 82}], "disease": [{"text": "acute intermittent porphyria", "start": 152, "end": 180}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hydroxymethylbilane synthase", "start": 54, "end": 82}, "tail": {"text": "acute intermittent porphyria", "start": 152, "end": 180}}]}}, "schema": []}
{"input": "EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.", "output": {"entities": {"gene": [{"text": "EXOSC8", "start": 0, "end": 6}], "disease": [{"text": "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia", "start": 49, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EXOSC8", "start": 0, "end": 6}, "tail": {"text": "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia", "start": 49, "end": 119}}]}}, "schema": []}
{"input": "We used a panel of behavioral assays to assess TNFR1 (-/-) and TNFR2 (-/-) mice for anxiety and depression-like behaviors.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 47, "end": 52}], "disease": [{"text": "depression", "start": 96, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFR1", "start": 47, "end": 52}, "tail": {"text": "depression", "start": 96, "end": 106}}]}}, "schema": []}
{"input": "Role of superoxide in hemorrhagic shock-induced P-selectin expression.", "output": {"entities": {"gene": [{"text": "P-selectin", "start": 48, "end": 58}], "disease": [{"text": "hemorrhagic shock", "start": 22, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Hemodialysis induces p66 (shc) gene expression in nondiabetic humans: correlations with oxidative stress and systemic inflammation.", "output": {"entities": {"gene": [{"text": "p66", "start": 21, "end": 24}], "disease": [{"text": "inflammation", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that genetic and pharmacological targeting of PLD1 disrupts spontaneous and colitis-associated intestinal tumorigenesis in Apc (Min/+) and azoxymethane/dextran sodium sulfate mice models.", "output": {"entities": {"gene": [{"text": "PLD1", "start": 69, "end": 73}], "disease": [{"text": "tumorigenesis", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Unexpectedly, however, in the presence of Ki16425, ascites and LPA inhibited cell migration in response to epidermal growth factor (EGF).", "output": {"entities": {"gene": [{"text": "LPA", "start": 63, "end": 66}], "disease": [{"text": "ascites", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "The demonstration of loss of heterozygosity for PKD1 and the absence of immunoreactive polycystin 1 in approximately 20% of the cysts supports a two-hit tumor suppressor gene model of cystogenesis.", "output": {"entities": {"gene": [{"text": "polycystin 1", "start": 87, "end": 99}], "disease": [{"text": "hit", "start": 149, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The novel eosinophil chemoattractants, eotaxin and monocyte chemotactic protein (MCP)-4, are up-regulated at sites of allergic inflammation, yet their contribution to the pathophysiologic mechanisms of AD remains to be determined.", "output": {"entities": {"gene": [{"text": "MCP", "start": 81, "end": 84}], "disease": [{"text": "inflammation", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These data indicated for the first time that it is possible that the VDR and CASR gene variants through their effects on LH and SHBG levels, and insulin resistance are involved in pathogenesis of PCOS.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 128, "end": 132}], "disease": [{"text": "insulin resistance", "start": 145, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Homozygous Cys542--& gt; Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann' s thrombasthenia.", "output": {"entities": {"gene": [{"text": "GPIIIa", "start": 45, "end": 51}], "disease": [{"text": "Glanzmann' s thrombasthenia", "start": 83, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIIIa", "start": 45, "end": 51}, "tail": {"text": "Glanzmann' s thrombasthenia", "start": 83, "end": 110}}]}}, "schema": []}
{"input": "In human adult and fetal cardiac tissues, ischaemia induces double-strand breaks and upregulates BRCA1 expression.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 97, "end": 102}], "disease": [{"text": "ischaemia", "start": 42, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "A 1. 04 ratio was found in 21q21----21 p ter monosomy; a 1. 04 and 0. 99 ratio was found in two 21 qter----21q22. 3 monosomies; a 1. 14 ratio in 21 qter----21q22 monosomy; a 0. 89 ratio in a 21q21----21 pter trisomy; an excess of CBS activity was found in a 21q22. 1----21q21 trisomy with a 1. 57 ratio.", "output": {"entities": {"gene": [{"text": "CBS", "start": 230, "end": 233}], "disease": [{"text": "trisomy", "start": 208, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Cancer-specific survival (CSS) was analyzed with the competing risk method, and Cox proportional hazards regression was used for the analysis of the time to recurrence (TTR).", "output": {"entities": {"gene": [{"text": "TTR", "start": 169, "end": 172}], "disease": [{"text": "regression", "start": 105, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "A statistically significant association was found between high ARNTL2 mRNA levels and vascular invasion (P < 0. 0001), and between high SERPINE1 mRNA levels and microsatellite instability (MSI-H and MSI-L, P = 0. 025).", "output": {"entities": {"gene": [{"text": "ARNTL2", "start": 63, "end": 69}], "disease": [{"text": "microsatellite instability", "start": 161, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Significant abnormalities in line hm2 alpha-SYN-39 included declines in 20S-mediated proteolytic activity, the level of the 19S proteasome subunits Rpt1 and Rpn2, and the level of soluble total high MW ubiquitin cross-reacting proteins.", "output": {"entities": {"gene": [{"text": "Rpn2", "start": 157, "end": 161}], "disease": [{"text": "abnormalities", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In both ulcerative colitis and controls, expanded cells were constituted largely by T-cell receptor alpha beta +, CD4 +, CD45RA-(helper), and CD8 +, CD11b-(cytotoxic) phenotypes.", "output": {"entities": {"gene": [{"text": "CD4", "start": 114, "end": 117}], "disease": [{"text": "ulcerative colitis", "start": 8, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Nitric oxide (NO) is synthesized by endothelial nitric oxide synthase (eNOS) and is important in regulating vascular resistance and in vascular remodeling in the lung.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 36, "end": 69}], "disease": [{"text": "vascular remodeling", "start": 135, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "In SG611-PDCD5, the E1a gene with a deletion of 24 nucleotides within CR2 region is controlled under the human telomerase reverse transcriptase (hTERT) promoter, the E1b gene expression is directed by the hypoxia response element (HRE), whereas the PDCD5 gene is controlled by the cytomegalovirus promoter.", "output": {"entities": {"gene": [{"text": "CR2", "start": 70, "end": 73}], "disease": [{"text": "hypoxia", "start": 205, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The expression levels of Bcl-xL mRNA and protein in high metastatic osteosarcoma cells showed higher than those in low metastatic osteosarcoma cells.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 25, "end": 31}], "disease": [{"text": "metastatic osteosarcoma", "start": 57, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "These biallelic RTEL1 mutations are responsible for a major subgroup (& #8764; 29%) of HHS.", "output": {"entities": {"gene": [{"text": "RTEL1", "start": 16, "end": 21}], "disease": [{"text": "HHS", "start": 87, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RTEL1", "start": 16, "end": 21}, "tail": {"text": "HHS", "start": 87, "end": 90}}]}}, "schema": []}
{"input": "Acute colitis was induced by 3. 5% dextran sulfate sodium (DSS) in drinking water for 5days and levels of cytokines and mRNA expression of TACE, TIMP-3 and SIRT-1 were measured in colon at different time intervals.", "output": {"entities": {"gene": [{"text": "TIMP-3", "start": 145, "end": 151}], "disease": [{"text": "colitis", "start": 6, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIMP-3", "start": 145, "end": 151}, "tail": {"text": "colitis", "start": 6, "end": 13}}]}}, "schema": []}
{"input": "Additionally, hypoxic and low-glucose stress produced no activation of stably transfected AP-1 reporter sequences.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 90, "end": 94}], "disease": [{"text": "hypoxic", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family.", "output": {"entities": {"gene": [{"text": "coagulation factor XII", "start": 11, "end": 33}], "disease": [{"text": "Hageman trait", "start": 159, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor XII", "start": 11, "end": 33}, "tail": {"text": "Hageman trait", "start": 159, "end": 172}}]}}, "schema": []}
{"input": "This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).", "output": {"entities": {"gene": [{"text": "GULP1", "start": 69, "end": 74}], "disease": [{"text": "hemochromatosis type 4", "start": 374, "end": 396}]}, "relations": {}}, "schema": []}
{"input": "Molecular cloning of the transmembrane component of the 13762 mammary adenocarcinoma sialomucin complex. A new member of the epidermal growth factor superfamily.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 125, "end": 148}], "disease": [{"text": "mammary adenocarcinoma", "start": 62, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Cases were categorized as likely sporadic (MLH1/PMS2 loss, evidence of MLH1 promoter hypermethylation) or putative LS (PLS) (loss of MSH2/MSH6, MSH6, or PMS2).", "output": {"entities": {"gene": [{"text": "MSH2", "start": 133, "end": 137}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 86, "end": 92}], "disease": [{"text": "Spondyloperipheral dysplasia", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 86, "end": 92}, "tail": {"text": "Spondyloperipheral dysplasia", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 27, "end": 35}], "disease": [{"text": "sporadic", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The NAT2 slow genotype, in particular when combined with the GSTM1 null genotype, may confer increased susceptibility to adduct formation, gene mutation, and lung cancer when the smoking dose is low.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 4, "end": 8}], "disease": [{"text": "smoking", "start": 179, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the expression of genes encoding selected inflammatory factors in post-mortem specimen of adult TS patients: interferon-γ (a cytokine released from CD8 and Thelper 1 CD4 subset of T lymphocytes), interleukin-2 (IL-2, a growth factor derived from T lymphocytes), interleukin-1 β (a cytokine involved in initiation of inflammation), monocyte chemotactic factor-1 (MCP-1, a marker of chronic inflammation) and CD45 (pan-leukocytic marker).", "output": {"entities": {"gene": [{"text": "IL-2", "start": 224, "end": 228}], "disease": [{"text": "inflammation", "start": 329, "end": 341}]}, "relations": {}}, "schema": []}
{"input": "By Western blotting, in 7/12 cases (58%), SPHK1 expression was higher in esophageal carcinomas than in the companion normal tissue.", "output": {"entities": {"gene": [{"text": "SPHK1", "start": 42, "end": 47}], "disease": [{"text": "esophageal", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "To date, there have been no reports on the expression of AKR1B1 in endometrial cancer, while AKR1B10 has only been studied at the cellular level.", "output": {"entities": {"gene": [{"text": "AKR1B10", "start": 93, "end": 100}], "disease": [{"text": "endometrial cancer", "start": 67, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1B10", "start": 93, "end": 100}, "tail": {"text": "endometrial cancer", "start": 67, "end": 85}}]}}, "schema": []}
{"input": "One patient with polyostotic fibrous dysplasia and one patient with the McCune-Albright syndrome were tested for the previously described GS alpha gene mutations and were found to express these mutations in bone.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 141, "end": 151}], "disease": [{"text": "polyostotic fibrous dysplasia", "start": 17, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Associations of smoking with breast cancer tended to be somewhat stronger among the women with the slow acetylator genotype for NAT2: when compared to those who never smoked and were rapid acetylators, the OR for ever smoking was 1. 50 (95% CI: 1. 11-2. 02) in slow acetylators, and OR: 1. 24 (95% CI: 0. 91-1. 70) in rapid acetylators.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 128, "end": 132}], "disease": [{"text": "smoking", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Screening for hemoglobin (Hb) Bart' s hydrops revealed 26 cases of Hb Bart' s hydrops, 67 cases of alpha-thalassemia-1 (including 6 Hb Bart' s hydrops falsely diagnosed as alpha-thalassemia-1 from chorionic villi samples), and 38 normal cases.", "output": {"entities": {"gene": [{"text": "Bart' s", "start": 30, "end": 37}], "disease": [{"text": "hydrops", "start": 38, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "A subset of pancreatic ductal adenocarcinomas (PDACs) is characterized by EGFR gene numerical alterations including sporadic cases of amplification or absence of one allele (maybe due to gene deletion or intragenic point mutation and allelic silence).", "output": {"entities": {"gene": [{"text": "EGFR gene", "start": 74, "end": 83}], "disease": [{"text": "sporadic", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Importantly, depletion or inhibition of CTSL with vitamin D or specific inhibitors stabilized 53BP1 and increased genomic instability in response to radiation and poly (adenosine diphosphate-ribose) polymerase inhibitors, compromising proliferation.", "output": {"entities": {"gene": [{"text": "53BP1", "start": 94, "end": 99}], "disease": [{"text": "genomic instability", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "CAG expansions in other genes such as the alpha1 subunit of a brain-specific P/Q-type calcium channel gene cause spinocerebellar ataxia type 6, whereas the length of the CAG repeat in the RAI1 gene modifies the age of onset of spinocerebellar ataxia type 2.", "output": {"entities": {"gene": [{"text": "RAI1 gene", "start": 188, "end": 197}], "disease": [{"text": "spinocerebellar ataxia type 6", "start": 113, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Mutation of keratin 4 gene causing white sponge nevus in a Japanese family.", "output": {"entities": {"gene": [{"text": "keratin 4", "start": 12, "end": 21}], "disease": [{"text": "white sponge nevus", "start": 35, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 4", "start": 12, "end": 21}, "tail": {"text": "white sponge nevus", "start": 35, "end": 53}}]}}, "schema": []}
{"input": "We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing.", "output": {"entities": {"gene": [{"text": "PSMB8", "start": 30, "end": 35}], "disease": [{"text": "JMP syndrome", "start": 42, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PSMB8", "start": 30, "end": 35}, "tail": {"text": "JMP syndrome", "start": 42, "end": 54}}]}}, "schema": []}
{"input": "We also confirm previously reported associations between common variants of the coagulation FII, FV, FVIII, FXI, alpha-fibrinogen and protein C genes and risk of VTE.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 101, "end": 106}], "disease": [{"text": "fibrinogen", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Placental expression of aminopeptidase-Q (laeverin) and its role in the pathophysiology of preeclampsia.", "output": {"entities": {"gene": [{"text": "laeverin", "start": 42, "end": 50}], "disease": [{"text": "preeclampsia", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "NAC inhibited KSHV latent gene expression as well as tumor angiogenesis and lymphangiogenesis.", "output": {"entities": {"gene": [{"text": "NAC", "start": 0, "end": 3}], "disease": [{"text": "tumor angiogenesis", "start": 53, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.", "output": {"entities": {"gene": [{"text": "URAT1", "start": 0, "end": 5}], "disease": [{"text": "renal hypouricemia", "start": 22, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "URAT1", "start": 0, "end": 5}, "tail": {"text": "renal hypouricemia", "start": 22, "end": 40}}]}}, "schema": []}
{"input": "To identify a biomarker panel that elucidates ALS disease pathogenesis, distinguishes patients with ALS from neurologic disease controls, and correlates with ALS disease characteristics, and to determine the effect of HFE gene variants, a potential risk factor for sporadic ALS, on the biomarker profile.", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 218, "end": 226}], "disease": [{"text": "sporadic", "start": 265, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Whether ERK1/2/p27 signal pathway is involved in CGRP-mediated pathogenesis of pulmonary hypertension and vascular remodeling remains unknown.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 8, "end": 12}], "disease": [{"text": "pulmonary hypertension", "start": 79, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.", "output": {"entities": {"gene": [{"text": "PANK2", "start": 6, "end": 11}], "disease": [{"text": "pantothenate kinase-associated neurodegeneration", "start": 65, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PANK2", "start": 6, "end": 11}, "tail": {"text": "pantothenate kinase-associated neurodegeneration", "start": 65, "end": 113}}]}}, "schema": []}
{"input": "In this study GPC3 expression in intrahepatic chanlangiocarcinoma (ICC), gallbladder cancer and HCC was quantitatively detected.", "output": {"entities": {"gene": [{"text": "HCC", "start": 96, "end": 99}], "disease": [{"text": "gallbladder cancer", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "To approach this issue the present study examined BDNF secretion from brain endothelial cells in response to reduced oxygen availability (hypoxia), using the mouse brain microvascular endothelial cell line, bEnd. 3.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 50, "end": 54}], "disease": [{"text": "hypoxia", "start": 138, "end": 145}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BDNF", "start": 50, "end": 54}, "tail": {"text": "hypoxia", "start": 138, "end": 145}}]}}, "schema": []}
{"input": "Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 84, "end": 89}], "disease": [{"text": "Septo-optic dysplasia", "start": 0, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 84, "end": 89}, "tail": {"text": "Septo-optic dysplasia", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "In this study, 48 individuals who were suspected as Sotos syndrome but showing no NSD1 abnormalities were examined for NFIX mutations by high-resolution melt analysis.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 82, "end": 86}], "disease": [{"text": "abnormalities", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that mutations in SCN9A cause primary erythermalgia.", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 35, "end": 40}], "disease": [{"text": "primary erythermalgia", "start": 47, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN9A", "start": 35, "end": 40}, "tail": {"text": "primary erythermalgia", "start": 47, "end": 68}}]}}, "schema": []}
{"input": "Allele and genotype frequencies of ANP and NPRA were characterized in an Italian case-control study with patients affected by vascular disease or risk factors.", "output": {"entities": {"gene": [{"text": "NPRA", "start": 43, "end": 47}], "disease": [{"text": "vascular disease", "start": 126, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We believe this case is important because it questions the presence of a phenotype-genotype correlation in WNT7A mutations and because it demonstrates that the G204S mutation may be associated with both AARRS and Fuhrmann phenotypes.", "output": {"entities": {"gene": [{"text": "WNT7A", "start": 107, "end": 112}], "disease": [{"text": "AARRS", "start": 203, "end": 208}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT7A", "start": 107, "end": 112}, "tail": {"text": "AARRS", "start": 203, "end": 208}}]}}, "schema": []}
{"input": "CD4 + T cells have been identified as the pathogenic T cells in colitis, which mediate inflammation by either the Th1 or the Th2 pathway.", "output": {"entities": {"gene": [{"text": "Th1", "start": 114, "end": 117}], "disease": [{"text": "inflammation", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Mild hypoxia (MH, 10% O (2)) caused hypertrophy in cultured neonatal rat cardiac myocytes, which was accompanied with increase of HIF-1α mRNA and accumulation of HIF-1α protein in nuclei.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 130, "end": 136}], "disease": [{"text": "hypertrophy", "start": 36, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "These findings uncover an unexpected role for a histone methylation modifier in activating ERK1/2 in lung tumorigenesis and metastasis, suggesting that KDM2A may be a promising therapeutic target in NSCLC.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 91, "end": 95}], "disease": [{"text": "tumorigenesis", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were analyzed for APOE genotype and serum fibrinogen.", "output": {"entities": {"gene": [{"text": "APOE", "start": 32, "end": 36}], "disease": [{"text": "fibrinogen", "start": 56, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "As benign nevi also express SOX10, it cannot be used to differentiate between benign and malignant pigmented skin lesions.", "output": {"entities": {"gene": [{"text": "SOX10", "start": 28, "end": 33}], "disease": [{"text": "nevi", "start": 10, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Treatment with CAE increased bone mass remarkably and showed a significant inhibitory effect on bone resorption by downregulating significantly the expression of RANKL in tibia of OVX rats.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 162, "end": 167}], "disease": [{"text": "bone mass", "start": 29, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Homeostasis model assessment of insulin resistance (HOMA-IR), HOMA-B, plasma concentrations of C-peptide, CRP, fatty acid composition and the GCKR rs1260326-P446L polymorphism, were determined in a cross-sectional analysis of 379 subjects with MetS participating in the LIPGENE dietary cohort.", "output": {"entities": {"gene": [{"text": "CRP", "start": 106, "end": 109}], "disease": [{"text": "insulin resistance", "start": 32, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Our results show that the Tie-2 receptor pathway is essential for both SLK sarcoma and SW1222 colon carcinoma xenograft growth.", "output": {"entities": {"gene": [{"text": "SLK", "start": 71, "end": 74}], "disease": [{"text": "sarcoma", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine whether the p53 codon 72 polymorphism confers susceptibility to systemic lupus erythematous (SLE) and rheumatoid arthritis (RA).", "output": {"entities": {"gene": [{"text": "p53", "start": 51, "end": 54}], "disease": [{"text": "lupus", "start": 112, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "This is in contrast to our previous observations that a distinct HNE protein adduct, the pyrrole adduct, accumulates on neurofibrillary tangles in AD patients.", "output": {"entities": {"gene": [{"text": "HNE", "start": 65, "end": 68}], "disease": [{"text": "neurofibrillary tangles", "start": 120, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "However, when combined with a transgenic model of increased myofibrillar Ca (2 +)-sensitivity, SERCA2 haploinsufficiency caused rapid onset of hypertrophy, decompensation, and death.", "output": {"entities": {"gene": [{"text": "SERCA2", "start": 95, "end": 101}], "disease": [{"text": "hypertrophy", "start": 143, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "We examined the association of ALDH2 genotypes with percentage predicted lung function (forced expiratory volume in 1 second; forced vital capacity) for age, sex, and height among 5641 older Chinese using multivariable linear regression.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 31, "end": 36}], "disease": [{"text": "vital capacity", "start": 133, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.", "output": {"entities": {"gene": [{"text": "GLB1", "start": 64, "end": 68}], "disease": [{"text": "type-II GM1 gangliosidosis", "start": 79, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLB1", "start": 64, "end": 68}, "tail": {"text": "type-II GM1 gangliosidosis", "start": 79, "end": 105}}]}}, "schema": []}
{"input": "Thus, VEGFR-signaling acts as a direct growth factor for tumor cells in CAC, providing a molecular link between inflammation and the development of colon cancer.", "output": {"entities": {"gene": [{"text": "CAC", "start": 72, "end": 75}], "disease": [{"text": "colon cancer", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We showed previously that an intraperitoneal injection of replication-deficient adenovirus containing the HST-1 gene (Adex1HST-1) into normal mice caused a twofold increase in peripheral platelet count.", "output": {"entities": {"gene": [{"text": "HST-1", "start": 106, "end": 111}], "disease": [{"text": "adenovirus", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "While GIF and GFAP were both detected in reactive astrocytes, an increase in the GFAP relative level occurred prior to an increase in GIF relative level following the ischemia.", "output": {"entities": {"gene": [{"text": "GIF", "start": 6, "end": 9}], "disease": [{"text": "ischemia", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In the 11 metastasis lesions examined, MIA mRNA expression was apparently inversely correlated with pigmentation.", "output": {"entities": {"gene": [{"text": "MIA", "start": 39, "end": 42}], "disease": [{"text": "pigmentation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Thus, the high level expression of hsp70 caused by gene transfection enhanced the hypoxic tolerance of coronary endothelial cell.", "output": {"entities": {"gene": [{"text": "hsp70", "start": 35, "end": 40}], "disease": [{"text": "hypoxic", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that loss-of-function variants in p53AIP1 associated with the risk of sporadic prostate cancer and further support the concept that the genetic defects in the DNA damage-response genes play an important role in the development of prostate cancer.", "output": {"entities": {"gene": [{"text": "p53AIP1", "start": 56, "end": 63}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We report here a patient with a t (8; 17) (p11; q23) and an unusual myelodysplastic/myeloproliferative disease (MDS/MPD) characterized by thrombocytopenia due to markedly reduced size and numbers of megakaryocytes, with elevated numbers of monocytes, eosinophils and basophils.", "output": {"entities": {"gene": [{"text": "p11", "start": 43, "end": 46}], "disease": [{"text": "myelodysplastic/myeloproliferative disease", "start": 68, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The higher concentration of IFN-gamma than IL-4 in the P. endodontalis group suggested a Th1 reaction in the early stage of pulpal inflammation induced by P. endodontalis.", "output": {"entities": {"gene": [{"text": "Th1", "start": 89, "end": 92}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "To determine if individuals with metabolic disorders possess unique gene expression profiles, we compared transcript levels in peripheral blood from patients with coronary artery disease (CAD), type 2 diabetes (T2D) and their precursor state, metabolic syndrome to those of control (CTRL) subjects and subjects with rheumatoid arthritis (RA).", "output": {"entities": {"gene": [{"text": "CTRL", "start": 283, "end": 287}], "disease": [{"text": "rheumatoid arthritis", "start": 316, "end": 336}]}, "relations": {}}, "schema": []}
{"input": "Treatment with anti-NGF significantly reduced allergic airway resistance and inflammation, up-regulated IFNγ, IL-10, TGFβ, T-bet, and Foxp3 expression, increased Th1 and Tregs, but down-regulated IL-4, TNFα, IL-17A, RORγT and GATA-3 expression and reduced Th2 and Th17 cells, accompanied by increased serum IgG2a.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 196, "end": 200}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations.", "output": {"entities": {"gene": [{"text": "RIPK4", "start": 35, "end": 40}], "disease": [{"text": "CHAND syndrome", "start": 49, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIPK4", "start": 35, "end": 40}, "tail": {"text": "CHAND syndrome", "start": 49, "end": 63}}]}}, "schema": []}
{"input": "One antisense drug has been approved for local therapy of CMV (cytomegalovirus) retinitis, and a number of AS ODNs are currently being tested in clinical trials, including AS ODN targeting Bcl-2, XIAP (X-linked inhibitor of apoptosis protein) and TGF-beta-2 (transforming growth factor beta-2).", "output": {"entities": {"gene": [{"text": "XIAP", "start": 196, "end": 200}], "disease": [{"text": "retinitis", "start": 80, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.", "output": {"entities": {"gene": [{"text": "PCDH15", "start": 37, "end": 43}], "disease": [{"text": "DFNB23", "start": 67, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCDH15", "start": 37, "end": 43}, "tail": {"text": "DFNB23", "start": 67, "end": 73}}]}}, "schema": []}
{"input": "This phenotype is rarely found in BRCA2 carcinomas, which are of higher grade than sporadic age-matched controls, but tend to be estrogen receptor-and progesterone receptor-positive.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 34, "end": 39}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The present study was performed to examine the CD133 expression in colorectal cancer and to analyze its relationship with microsatellite instability (MSI) and the clinicopathological factors, including patient survival.", "output": {"entities": {"gene": [{"text": "CD133", "start": 47, "end": 52}], "disease": [{"text": "microsatellite instability", "start": 122, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "And the definition of asthma subgroup meta-analysis demonstrates that the IL-4 C-33T is not associated with nonatopic or atopic, and IL-4 C-589T and IL-13 C-1112T polymorphisms are not associated with atopic.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 149, "end": 154}], "disease": [{"text": "atopic", "start": 111, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We recently reported that the expression of dbpA (DNA binding protein A) is associated with advanced stages of human hepatocellular carcinoma (HCC) and that its transcription is positively regulated by E2F1, which is also implicated in hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "dbpA", "start": 44, "end": 48}], "disease": [{"text": "hepatocellular carcinoma", "start": 117, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These mutations are associated with chronic hepatitis, cirrhosis and Hepato Cellular Carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 96, "end": 99}], "disease": [{"text": "chronic hepatitis", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The activity of SOD, GSH-Px, CAT, concentrations of erythrocyte and plasma Se, Cu, Zn were lower in children with ESRD than in controls.", "output": {"entities": {"gene": [{"text": "CAT", "start": 29, "end": 32}], "disease": [{"text": "ESRD", "start": 114, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CAT", "start": 29, "end": 32}, "tail": {"text": "ESRD", "start": 114, "end": 118}}]}}, "schema": []}
{"input": "CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities.", "output": {"entities": {"gene": [{"text": "CAMOS", "start": 0, "end": 5}], "disease": [{"text": "Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities", "start": 7, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CAMOS", "start": 0, "end": 5}, "tail": {"text": "Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities", "start": 7, "end": 86}}]}}, "schema": []}
{"input": "We have conducted this case-control study to assess the role of smoking, slow NAT2 variants, and GSTM1 and GSTT1 null genotypes in bladder cancer development in North Tunisia.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 78, "end": 82}], "disease": [{"text": "smoking", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic inactivation of the metastasis suppressor RECK enhances invasion of human colon cancer cells.", "output": {"entities": {"gene": [{"text": "RECK", "start": 53, "end": 57}], "disease": [{"text": "colon cancer", "start": 85, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RECK", "start": 53, "end": 57}, "tail": {"text": "colon cancer", "start": 85, "end": 97}}]}}, "schema": []}
{"input": "Our findings reinforce the role of astroglial cells in the pathogenesis of bipolar disorder and S100B protein as a marker of bipolar mania.", "output": {"entities": {"gene": [{"text": "S100B", "start": 96, "end": 101}], "disease": [{"text": "mania", "start": 133, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 96, "end": 101}, "tail": {"text": "mania", "start": 133, "end": 138}}]}}, "schema": []}
{"input": "Characterization of arginase 1 gene polymorphisms in the Algerian population and association with blood pressure.", "output": {"entities": {"gene": [{"text": "arginase 1", "start": 20, "end": 30}], "disease": [{"text": "blood pressure", "start": 98, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Male B27 (+) NP1 (+) rats had a significantly reduced prevalence of arthritis, compared with B27 (+) NP-males or B27 (+) males with a control construct, NP2, whereas colitis was not significantly affected by the NP1 transgene.", "output": {"entities": {"gene": [{"text": "B27", "start": 5, "end": 8}], "disease": [{"text": "colitis", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of calcyon and NCS-1 in the second schizophrenia cohort strengthens the proposition that abnormalities of the dopamine system in this disease may lie in altered levels of dopamine receptor-interacting proteins.", "output": {"entities": {"gene": [{"text": "NCS-1", "start": 29, "end": 34}], "disease": [{"text": "schizophrenia", "start": 49, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NCS-1", "start": 29, "end": 34}, "tail": {"text": "schizophrenia", "start": 49, "end": 62}}]}}, "schema": []}
{"input": "We studied factor (F) VIII deficient individuals (11 mild, 4 moderate and 12 severe) with a well-characterized 5-year bleeding history that included haemarthrosis, soft tissue haematoma and annual FVIII concentrate usage.", "output": {"entities": {"gene": [{"text": "VIII", "start": 22, "end": 26}], "disease": [{"text": "haematoma", "start": 176, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The percentage of MIF expressing epithelial cells was low in normal mucosa (12%) but substantially higher in gastritis (52%), intestinal metaplasia (66%), and gastric cancer (96%) (p < 0. 001, ANOVA).", "output": {"entities": {"gene": [{"text": "MIF", "start": 18, "end": 21}], "disease": [{"text": "gastric cancer", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "To explore the effects of genetic variation in the PTH pathway, we have analysed variations in PTH, PTHLH, PTHR1 and PTHR2 in relation to bone mass and fracture incidence in elderly women.", "output": {"entities": {"gene": [{"text": "PTHR1", "start": 107, "end": 112}], "disease": [{"text": "bone mass", "start": 138, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The effects of microinjection bilaterally into CA3 area of a PPARγ agonist, rosiglitazone or a PPARγ antagonist, GW9662 on UCP2 expression, induced superoxide anion (O (· 2) (-)) production, oxidized protein level, mitochondrial respiratory chain enzyme activities, translocation of Bcl-2, Bax and cytochrome c, and DNA fragmentation in bilateral CA3 subfields were examined.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 61, "end": 66}], "disease": [{"text": "translocation", "start": 266, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "Our data show that the lack of c-kit is permissive for the development of mammary tumor in Ws/Ws rats treated with carcinogen.", "output": {"entities": {"gene": [{"text": "c-kit", "start": 31, "end": 36}], "disease": [{"text": "mammary tumor", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "BMC transplantation reduced post-infarction fibrosis, improved neovascularization, and increased proliferation, while all these effects in repairing the failing myocardium were eliminated by HMGB1-inhibition.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 191, "end": 196}], "disease": [{"text": "fibrosis", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family.", "output": {"entities": {"gene": [{"text": "TITF1", "start": 50, "end": 55}], "disease": [{"text": "BHC", "start": 106, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TITF1", "start": 50, "end": 55}, "tail": {"text": "BHC", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "Depletion of myeloma plasma cells was confirmed using a cellular limiting dilution assay followed by reverse transcriptase-polymerase chain reaction analysis of clonotypic IgH transcripts, which showed a greater than 3 log reduction in clonotypic myeloma cells after SLT-1 treatment.", "output": {"entities": {"gene": [{"text": "SLT", "start": 267, "end": 270}], "disease": [{"text": "myeloma", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "The other de novo mutation, SCN2A-I1473M, was identified in a patient with sporadic neonatal epileptic encephalopathy.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 28, "end": 33}], "disease": [{"text": "sporadic", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "A novel homozygous missense mutation c. 1366C & gt; G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands.", "output": {"entities": {"gene": [{"text": "C10orf2", "start": 65, "end": 72}], "disease": [{"text": "infantile onset spinocerebellar ataxia", "start": 119, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C10orf2", "start": 65, "end": 72}, "tail": {"text": "infantile onset spinocerebellar ataxia", "start": 119, "end": 157}}]}}, "schema": []}
{"input": "In this review, we discuss DNA repair mechanisms and strategies used to target them in oncology, our current experience with PARP inhibition in BRCA1 and BRCA2-mutation associated and sporadic ovarian cancer, as well as current issues in the clinical development of these agents.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 154, "end": 159}], "disease": [{"text": "sporadic", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Here we show that glucocorticoids suppress bacteria-induced inflammation by enhancing IRAK-M, a central negative regulator of Toll-like receptor signalling.", "output": {"entities": {"gene": [{"text": "IRAK-M", "start": 86, "end": 92}], "disease": [{"text": "inflammation", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These results suggested that genetic polymorphism of GGT may link with the induction of GGT by alcohol drinking, and consequently link with the development of alcoholic liver and pancreatic diseases.", "output": {"entities": {"gene": [{"text": "GGT", "start": 53, "end": 56}], "disease": [{"text": "alcohol drinking", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 103, "end": 109}], "disease": [{"text": "JP", "start": 26, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1A", "start": 103, "end": 109}, "tail": {"text": "JP", "start": 26, "end": 28}}]}}, "schema": []}
{"input": "Furthermore, suppression of inflammatory response by p53 was observed in vivo in mice by comparing wild-type and p53 null animals at molecular (inhibition of transcription of genes encoding cytokines and chemokines, reducing accumulation of reactive oxygen species and protein oxidation products), cellular (activation of macrophages and neutrophil clearance) and organismal (high levels of metabolic markers of inflammation in tissues of p53-deficient mice and their hypersensitivity to LPS) levels.", "output": {"entities": {"gene": [{"text": "p53", "start": 53, "end": 56}], "disease": [{"text": "hypersensitivity", "start": 468, "end": 484}]}, "relations": {}}, "schema": []}
{"input": "The serum free IGF-II levels were significantly higher in HCC than those in chronic hepatitis or liver cirrhosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 58, "end": 61}], "disease": [{"text": "chronic hepatitis", "start": 76, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Systematic administration of GLI2 ASO in athymic mice significantly delayed PC-3 tumor progression and enhanced paclitaxel chemosensitivity.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 76, "end": 80}], "disease": [{"text": "tumor progression", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "The appropriate shock-free survival rate was also significantly lower in patients with SCN5A mutations than in those without (28. 6% vs 83. 3% at 1 year, P = 0. 040).", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 87, "end": 92}], "disease": [{"text": "shock", "start": 16, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "This study suggested that SCN1A mutations are probably not associated with benign convulsions with mild gastroenteritis.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 26, "end": 31}], "disease": [{"text": "mild", "start": 99, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We show here the influence of stable expression of the R453W and of the Dunnigan-type partial lipodystrophy R482W mutation of lamin A in C2C12 cells on transcription and epigenetic regulation of the myogenin (Myog) gene and on global chromatin organization.", "output": {"entities": {"gene": [{"text": "Myog", "start": 209, "end": 213}], "disease": [{"text": "partial lipodystrophy", "start": 86, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "PLA2G6 mutation underlies infantile neuroaxonal dystrophy.", "output": {"entities": {"gene": [{"text": "PLA2G6", "start": 0, "end": 6}], "disease": [{"text": "infantile neuroaxonal dystrophy", "start": 26, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLA2G6", "start": 0, "end": 6}, "tail": {"text": "infantile neuroaxonal dystrophy", "start": 26, "end": 57}}]}}, "schema": []}
{"input": "Gene knockout technology provides an important tool in target validation and indicates that the CB1 receptor is the main cannabinoid target for an anti-spastic effect.", "output": {"entities": {"gene": [{"text": "CB1", "start": 96, "end": 99}], "disease": [{"text": "spastic", "start": 152, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 96, "end": 99}, "tail": {"text": "spastic", "start": 152, "end": 159}}]}}, "schema": []}
{"input": "This study examined JPH203, a potent and selective L-type amino acid transporter 1 inhibitor, and its ability to suppress YD-38 human oral cancer cell growth.", "output": {"entities": {"gene": [{"text": "L-type amino acid transporter 1", "start": 51, "end": 82}], "disease": [{"text": "oral cancer", "start": 134, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Genetic ablation of the IFN-αβ receptor (IFNAR) or IMM depletion protects mice from lethal infection, without affecting viral load.", "output": {"entities": {"gene": [{"text": "IFNAR", "start": 41, "end": 46}], "disease": [{"text": "viral load", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "While SFRP4, FZD4, FZD6, DVL1, TCF4, and MYC are up-regulated, WIF1, WNT2, PPP2CB, CCND2, and CD44 are down-regulated in certain prostate cancer patients.", "output": {"entities": {"gene": [{"text": "PPP2CB", "start": 75, "end": 81}], "disease": [{"text": "prostate cancer", "start": 129, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.", "output": {"entities": {"gene": [{"text": "IKBKAP", "start": 57, "end": 63}], "disease": [{"text": "familial dysautonomia", "start": 76, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IKBKAP", "start": 57, "end": 63}, "tail": {"text": "familial dysautonomia", "start": 76, "end": 97}}]}}, "schema": []}
{"input": "Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.", "output": {"entities": {"gene": [{"text": "TBX5", "start": 10, "end": 14}], "disease": [{"text": "Holt-Oram syndrome", "start": 57, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX5", "start": 10, "end": 14}, "tail": {"text": "Holt-Oram syndrome", "start": 57, "end": 75}}]}}, "schema": []}
{"input": "The patients with major depression exhibited significantly higher haptoglobin plasma levels than the healthy comparison subjects and the patients with minor depression.", "output": {"entities": {"gene": [{"text": "haptoglobin", "start": 66, "end": 77}], "disease": [{"text": "major depression", "start": 18, "end": 34}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "haptoglobin", "start": 66, "end": 77}, "tail": {"text": "major depression", "start": 18, "end": 34}}]}}, "schema": []}
{"input": "FKBP5 rs3800373 genotype was analyzed for association to several outcomes, including nicotine withdrawal and the acute subjective, heart rate (HR), blood pressure and plasma cortisol responses to IV nicotine.", "output": {"entities": {"gene": [{"text": "FKBP5", "start": 0, "end": 5}], "disease": [{"text": "heart rate", "start": 131, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy.", "output": {"entities": {"gene": [{"text": "H19", "start": 54, "end": 57}], "disease": [{"text": "hemihypertrophy", "start": 198, "end": 213}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "H19", "start": 54, "end": 57}, "tail": {"text": "hemihypertrophy", "start": 198, "end": 213}}]}}, "schema": []}
{"input": "The EMSY gene encodes a protein that interacts with Brca2 and is amplified in some sporadic cases of human breast cancer.", "output": {"entities": {"gene": [{"text": "Brca2", "start": 52, "end": 57}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of cyclooxygenase-1 and the PGE2 receptor EP2 in rat and human mesangioproliferative glomerulonephritis.", "output": {"entities": {"gene": [{"text": "cyclooxygenase-1", "start": 16, "end": 32}], "disease": [{"text": "glomerulonephritis", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Further, hCDR1 reduced, in vitro, IFN-α gene expression in peripheral blood mononuclear cells (PBMC) of 10 lupus patients (74% inhibition compared to medium, p = 0. 002) but had no significant effects on the expression levels of IFN-α in PBMC of primary anti-phospholipid syndrome patients or of healthy controls.", "output": {"entities": {"gene": [{"text": "IFN-α", "start": 34, "end": 39}], "disease": [{"text": "anti-phospholipid syndrome", "start": 254, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "The effect of in vivo targeting of NRP2 by small interfering RNA (siRNA) on the growth of hepatic colorectal tumors derived from luciferase-expressing HCT-116 cells was assessed by measuring changes in bioluminescence and final tumor volumes.", "output": {"entities": {"gene": [{"text": "NRP2", "start": 35, "end": 39}], "disease": [{"text": "colorectal tumors", "start": 98, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Our results help explaining the pathological adhesion of Schwannoma cells, further strengthen the importance of RhoGTPase signaling in Schwannoma development, and suggest that merlin' s role in tumor suppression is linked to focal contacts.", "output": {"entities": {"gene": [{"text": "merlin' s", "start": 176, "end": 185}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The correlation was analyzed between the expression of MR-1 and other tumor characteristics which may influence the prognosis of gastric cancer patients.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 55, "end": 59}], "disease": [{"text": "gastric cancer", "start": 129, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM * 190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM * 188770).", "output": {"entities": {"gene": [{"text": "MIM", "start": 84, "end": 87}], "disease": [{"text": "triphalangeal thumb-polysyndactyly syndrome", "start": 32, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.", "output": {"entities": {"gene": [{"text": "peroxiredoxin I", "start": 168, "end": 183}], "disease": [{"text": "keloid", "start": 84, "end": 90}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "peroxiredoxin I", "start": 168, "end": 183}, "tail": {"text": "keloid", "start": 84, "end": 90}}]}}, "schema": []}
{"input": "The results showed significant allelic and haplotypic associations between LSAMP gene and schizophrenia.", "output": {"entities": {"gene": [{"text": "LSAMP", "start": 75, "end": 80}], "disease": [{"text": "schizophrenia", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LSAMP", "start": 75, "end": 80}, "tail": {"text": "schizophrenia", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "Point mutations and genomic deletions of the CDKL5 (STK9) gene on chromosome Xp22 have been reported in patients with severe neurodevelopmental abnormalities, including Rett-like disorders.", "output": {"entities": {"gene": [{"text": "STK9", "start": 52, "end": 56}], "disease": [{"text": "abnormalities", "start": 144, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Thus, the present study examined the effect of GLP-1 (9-36) on chemokine-induced CD4-positive lymphocyte migration as one of the early and critical steps in atherogenesis.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 47, "end": 52}], "disease": [{"text": "atherogenesis", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "AIM: To evaluate the influence of the vascular endothelial growth factor A (VEGFA) polymorphisms on risk of presentation with intracerebral hemorrhage (ICH).", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "intracerebral hemorrhage", "start": 126, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "LMP1 expression induced marked homotypic adhesion in the BJAB cell line, despite the fact that there was no significant increase in the high constitutive BJAB LFA-1 and ICAM-1 levels, suggesting that LMP1 also induces an associated functional change in these molecules.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 159, "end": 164}], "disease": [{"text": "adhesion", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Besides, pre-incubation with p38 mitogen-activated protein kinases (MAPK) inhibitor SB203580, C-Jun NH2-terminal protein kinases (JNK) inhibitor SP600125 and proteosome inhibitor MG-132 could significantly restrain the effects of IL-25 on surface expression of L-selectin, ICAM-1 and ICAM-3, respectively, and also on the adhesion of eosinophils onto fibronectin (all P < 0. 05).", "output": {"entities": {"gene": [{"text": "IL-25", "start": 230, "end": 235}], "disease": [{"text": "adhesion", "start": 322, "end": 330}]}, "relations": {}}, "schema": []}
{"input": "This study examines decision making on the SGT in young adults with alcohol dependence who are treatment-naive (TxN).", "output": {"entities": {"gene": [{"text": "SGT", "start": 43, "end": 46}], "disease": [{"text": "alcohol dependence", "start": 68, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25. 4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c. 707G & gt; C, p. Arg236Thr) in EED (individual 2), and a missense mutation (c. 1829A & gt; T, p. Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation.", "output": {"entities": {"gene": [{"text": "EED", "start": 245, "end": 248}], "disease": [{"text": "WS", "start": 59, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EED", "start": 245, "end": 248}, "tail": {"text": "WS", "start": 59, "end": 61}}]}}, "schema": []}
{"input": "In 289 & #160; patients with T3-4 (77. 8%), node-negative (84. 1%) tumors of the larynx, high EGFR and CCND1 mRNA correlated with no or ex-smoking, (p & #8201; = & #8201; 0. 003 and p & #8201; = & #8201; 0. 029, respectively), while low Akt3 mRNA correlated with alcohol abuse, N0 stage, total laryngectomy, and absence of neck dissection.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 94, "end": 98}], "disease": [{"text": "alcohol abuse", "start": 263, "end": 276}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGFR", "start": 94, "end": 98}, "tail": {"text": "alcohol abuse", "start": 263, "end": 276}}]}}, "schema": []}
{"input": "This study investigated the therapeutic effects of selective cyclooxygenase (COX) inhibitor on hepatic encephalopathy in thioacetamide-induced fulminant hepatic failure (FHF) rats.", "output": {"entities": {"gene": [{"text": "COX", "start": 77, "end": 80}], "disease": [{"text": "hepatic encephalopathy", "start": 95, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the data demonstrate that activation of Src-kinase signalling is crucial for PV acantholysis and acts, at least in part, via phosphorylation of the adaptor protein Pkp3.", "output": {"entities": {"gene": [{"text": "Pkp3", "start": 180, "end": 184}], "disease": [{"text": "acantholysis", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Here we report a fifth type of RCDP (RCDP5) caused by a novel mutation in PEX5.", "output": {"entities": {"gene": [{"text": "PEX5", "start": 74, "end": 78}], "disease": [{"text": "RCDP5", "start": 37, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEX5", "start": 74, "end": 78}, "tail": {"text": "RCDP5", "start": 37, "end": 42}}]}}, "schema": []}
{"input": "The MEN1 tumor predisposition syndrome is caused by mutations in the MEN1 gene on human chromosome 11q13.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 4, "end": 8}], "disease": [{"text": "MEN1", "start": 69, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 4, "end": 8}, "tail": {"text": "MEN1", "start": 69, "end": 73}}]}}, "schema": []}
{"input": "The response of A2aR-/-mice to acute pain stimuli was slower.", "output": {"entities": {"gene": [{"text": "A2aR", "start": 16, "end": 20}], "disease": [{"text": "acute pain", "start": 31, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "After CD8 T-cell depletion, viremia increased and CD4 T cells decreased in all animals except the Rx-6h group.", "output": {"entities": {"gene": [{"text": "CD4", "start": 50, "end": 53}], "disease": [{"text": "viremia", "start": 28, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Patients with rheumatoid arthritis (RA) have a systemic Th1 defect associated with inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 56, "end": 59}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.", "output": {"entities": {"gene": [{"text": "BLK", "start": 17, "end": 20}], "disease": [{"text": "maturity onset diabetes of the young", "start": 37, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLK", "start": 17, "end": 20}, "tail": {"text": "maturity onset diabetes of the young", "start": 37, "end": 73}}]}}, "schema": []}
{"input": "The aim of this study was to clarify the relationship between the epithelial-mesenchymal transition (EMT) and LOX in gastric cancer cells under hypoxia.", "output": {"entities": {"gene": [{"text": "LOX", "start": 110, "end": 113}], "disease": [{"text": "hypoxia", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, this study showed no association between bone mass parameters (BMD, speed of sound (SOS), broadband ultrasound attenuation (BUA)), hip or lower forearm fracture and APOE genotypes in a population of postmenopausal women and age-matched controls.", "output": {"entities": {"gene": [{"text": "APOE", "start": 180, "end": 184}], "disease": [{"text": "bone mass", "start": 56, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We used categorical methods and logistic regression models to evaluate the individual and combined associations of CYP2D6 and GSTM1 polymorphisms with dysmenorrhea and its subgroups, occasional (N = 70) and recurrent (N = 59), with adjustment for age, education, occupation, passive smoke exposure, age of menarche, parity, contraceptive method, height, and body mass index.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 115, "end": 121}], "disease": [{"text": "body mass index", "start": 358, "end": 373}]}, "relations": {}}, "schema": []}
{"input": "Exons encoding the CKIepsilon and CKIdelta regulatory domains were sequenced from DNA obtained from individuals with adenomatous polyps and a family history of colon cancer unaffected by familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer (HNPCC).", "output": {"entities": {"gene": [{"text": "CKIepsilon", "start": 19, "end": 29}], "disease": [{"text": "hereditary nonpolyposis colorectal cancer", "start": 221, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "We previously found LOXL4 to be alternatively spliced in an anatomic site-specific manner in tumors involving the serosal cavities.", "output": {"entities": {"gene": [{"text": "LOXL4", "start": 20, "end": 25}], "disease": [{"text": "cavities", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The HLA-B27 transgenic rat, a model of spondyloarthritis, has decreased bone mineral density and increased RANKL to osteoprotegerin mRNA ratio.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 107, "end": 112}], "disease": [{"text": "bone mineral density", "start": 72, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "We identified new regions showing association (combined P < 5 × 10 (-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2.", "output": {"entities": {"gene": [{"text": "TGFB2", "start": 115, "end": 120}], "disease": [{"text": "pulmonary function", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive.", "output": {"entities": {"gene": [{"text": "hydroxymethylbilane synthase", "start": 204, "end": 232}], "disease": [{"text": "acute intermittent porphyria", "start": 74, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hydroxymethylbilane synthase", "start": 204, "end": 232}, "tail": {"text": "acute intermittent porphyria", "start": 74, "end": 102}}]}}, "schema": []}
{"input": "Here, two new mutations and two previously reported were found in the PBGD gene in 22 Argentinean AIP patients corresponding to 8 different families.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 70, "end": 74}], "disease": [{"text": "AIP", "start": 98, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 70, "end": 74}, "tail": {"text": "AIP", "start": 98, "end": 101}}]}}, "schema": []}
{"input": "The meta-analysis showed that the 1858C/T polymorphism of the PTPN22 gene is correlated with systemic lupus erythematosus susceptibility, when assessed by distribution characteristics such as nationality, race, and region.", "output": {"entities": {"gene": [{"text": "PTPN22", "start": 62, "end": 68}], "disease": [{"text": "systemic lupus erythematosus", "start": 93, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTPN22", "start": 62, "end": 68}, "tail": {"text": "systemic lupus erythematosus", "start": 93, "end": 121}}]}}, "schema": []}
{"input": "6% of the tumors showed hepatocyte growth factor overexpression, mainly seen in undifferentiated pleomorphic sarcomas and angiosarcomas, but also in clear cell sarcomas, malignant peripheral nerve sheath tumors, leiomyosarcomas and gastrointestinal stromal tumors.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 24, "end": 48}], "disease": [{"text": "gastrointestinal stromal tumors", "start": 232, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Histopathological examination of the lung excluded lymphoma but revealed PAP and silicosis.", "output": {"entities": {"gene": [{"text": "PAP", "start": 73, "end": 76}], "disease": [{"text": "silicosis", "start": 81, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Patients carrying WRN gene mutations exhibit an elevated rate of cancer, accompanied by increased genomic instability.", "output": {"entities": {"gene": [{"text": "WRN gene", "start": 18, "end": 26}], "disease": [{"text": "genomic instability", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "When overexpressed, c-Maf selectively inhibits transcriptional activation of IL-12 p40 and p35 genes while potently activating IL-10 and IL-4 expression, potentially contributing to the development of a state of anti-inflammation and dichotomy of immunologic polarization.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 137, "end": 141}], "disease": [{"text": "inflammation", "start": 217, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Disease-associating novel JAG1 gene variations were found in TOF patients, and seem to play an important role in the causation of the disease.", "output": {"entities": {"gene": [{"text": "JAG1", "start": 26, "end": 30}], "disease": [{"text": "TOF", "start": 61, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "JAG1", "start": 26, "end": 30}, "tail": {"text": "TOF", "start": 61, "end": 64}}]}}, "schema": []}
{"input": "Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP).", "output": {"entities": {"gene": [{"text": "FMRP", "start": 89, "end": 93}], "disease": [{"text": "Fragile X syndrome", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 89, "end": 93}, "tail": {"text": "Fragile X syndrome", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "In our study, we aimed to investigate the association between these three cytokines' single nucleotide polymorphisms (IL-6 gene G (-174) C, TNF-alpha gene G (-308) A and IL-1beta gene C (3954) T polymorphisms) and age-at-onset of type 1 diabetes mellitus (T1DM) in 165 diabetic children (median age: 17 years).", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 144, "end": 154}], "disease": [{"text": "type 1 diabetes mellitus", "start": 230, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "The transcription factor Sp1 additionally binds under physiological conditions to the GluR2 gene in human glioma cells and expression of a dominant-negative mutant of Sp1 reduced expression of GluR2.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 86, "end": 91}], "disease": [{"text": "glioma", "start": 106, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "METHODS: KRAS, p53, BRAF mutations and flow cytometric DNA Index were evaluated by established techniques in a series of 135 human sporadic CRCs.", "output": {"entities": {"gene": [{"text": "p53", "start": 15, "end": 18}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "After 5-aza-2'-deoxycytidine treatment of gastric cancer cells, miR-10b methylation was significantly decreased, and expression of miR-10b and HOXD4, which is 1 kb downstream of miR-10b, was greatly restored.", "output": {"entities": {"gene": [{"text": "HOXD4", "start": 143, "end": 148}], "disease": [{"text": "gastric cancer", "start": 42, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The inhibition of apoptosis was associated with a decrease in expression of the proapoptotic molecules, BAK and BAX, and activation of the antiapoptotic phosphatidylinositol 3 kinase (PI3K) and AKT pathway, providing potential mechanisms for the effects of RAB25 on tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "BAK", "start": 104, "end": 107}], "disease": [{"text": "aggressiveness", "start": 272, "end": 286}]}, "relations": {}}, "schema": []}
{"input": "COMMD1-deficiency in dogs leads to hepatic copper accumulation and chronic hepatitis representing a Wilson' s disease like phenotype.", "output": {"entities": {"gene": [{"text": "COMMD1", "start": 0, "end": 6}], "disease": [{"text": "chronic hepatitis", "start": 67, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COMMD1", "start": 0, "end": 6}, "tail": {"text": "chronic hepatitis", "start": 67, "end": 84}}]}}, "schema": []}
{"input": "On western blots of muscle, LGMD2B and MM patients show a similar abundance in dysferlin staining of 15 and 11%, respectively.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 79, "end": 88}], "disease": [{"text": "LGMD2B", "start": 28, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 79, "end": 88}, "tail": {"text": "LGMD2B", "start": 28, "end": 34}}]}}, "schema": []}
{"input": "A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.", "output": {"entities": {"gene": [{"text": "SMPD1", "start": 8, "end": 13}], "disease": [{"text": "type B Niemann-Pick disease", "start": 60, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMPD1", "start": 8, "end": 13}, "tail": {"text": "type B Niemann-Pick disease", "start": 60, "end": 87}}]}}, "schema": []}
{"input": "In this report we present the results of mutational analysis of the CDKN2B, CDKN2C, CDK4, p53 genes and 5' UTR of the CDKN2A gene in a set of 44 sporadic primary melanomas, which had been earlier analysed for mutations in the CDKN2A (p16/p14 (ARF)) gene.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 90, "end": 99}], "disease": [{"text": "sporadic", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Promoter deletion and reporter analysis revealed that hypoxia transcriptionally activates a GADD153 promoter through the AP-1 element in neonatal cardiomyocytes.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 121, "end": 125}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "To compare the expression patterns of cholecystokinin-B (CCK-B)/gastrin receptor genes in matched human gastric carcinoma and adjacent non-neoplastic mucosa of patients with gastric cancer, inflammatory gastric mucosa from patients with gastritis, normal stomachs from 2 autopsied patients and a gastric carcinoma cell line (SGC-7901), and to explore their relationship with progression to malignancy of human gastric carcinomas.", "output": {"entities": {"gene": [{"text": "gastrin receptor", "start": 64, "end": 80}], "disease": [{"text": "non-neoplastic", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "To determine the maximum tolerated dose (MTD), toxicity spectrum, clinical activity, and biological effects of the tropism-modified, infectivity-enhanced conditionally replicative adenovirus (CRAd), Ad5-Δ24-Arg-Gly-Asp (RGD), in patients with malignant gynecologic diseases.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 192, "end": 196}], "disease": [{"text": "gynecologic diseases", "start": 253, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated whether SIRT3 reversed renal lipotoxicity-mediated ROS and inflammation.", "output": {"entities": {"gene": [{"text": "SIRT3", "start": 39, "end": 44}], "disease": [{"text": "inflammation", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Ad-mda7 induces apoptosis in lung cancer cells through mitochondrial cytochrome c release in a process that is not dependent on mitochondrial membrane potential changes and occurs through mitochondrial permeability transition-independent pores.", "output": {"entities": {"gene": [{"text": "mda7", "start": 3, "end": 7}], "disease": [{"text": "lung cancer", "start": 29, "end": 40}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "mda7", "start": 3, "end": 7}, "tail": {"text": "lung cancer", "start": 29, "end": 40}}]}}, "schema": []}
{"input": "We applied PRA to 278 MAC isolates, including 126 from blood of human immunodeficiency virus (HIV)-infected patients, 59 from sputum of HIV-negative patients with chronic obstructive pulmonary disease, 88 from environmental sources, and 5 pulmonary isolates from a different study.", "output": {"entities": {"gene": [{"text": "MAC", "start": 22, "end": 25}], "disease": [{"text": "chronic obstructive pulmonary disease", "start": 163, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "KISS1/KISS1R pituitary expression profile, coupled to their anti-tumoral capacities, led us to hypothesize that this system may be involved in the biology of pituitary tumors.", "output": {"entities": {"gene": [{"text": "KISS1R", "start": 6, "end": 12}], "disease": [{"text": "pituitary tumors", "start": 158, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that patient NZ with leprechaunism was a compound heterozygote for 2 novel mutations in the insulin receptor gene and that direct DNA sequencing enables prenatal diagnosis for this lethal disorder.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 112, "end": 128}], "disease": [{"text": "leprechaunism", "start": 41, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 112, "end": 128}, "tail": {"text": "leprechaunism", "start": 41, "end": 54}}]}}, "schema": []}
{"input": "To determine whether basal-like phenotype and vimentin and/or laminin are related in both sporadic/familial (BRCA1 or BRCA2 mutated) tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 118, "end": 123}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "nor EGFR expression were independent prognostic factors for pretreated uterine cancer.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 4, "end": 8}], "disease": [{"text": "uterine cancer", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "X-linked Emery-Dreifuss muscular dystrophy is usually caused by absence of the nuclear membrane protein, emerin, due to nonsense mutations or deletions, but a few missense mutations also exist.", "output": {"entities": {"gene": [{"text": "emerin", "start": 105, "end": 111}], "disease": [{"text": "X-linked Emery-Dreifuss muscular dystrophy", "start": 0, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "emerin", "start": 105, "end": 111}, "tail": {"text": "X-linked Emery-Dreifuss muscular dystrophy", "start": 0, "end": 42}}]}}, "schema": []}
{"input": "The glutathione peroxidase 1-protein tyrosine phosphatase 1B-protein phosphatase 2A axis. A key determinant of airway inflammation and alveolar destruction.", "output": {"entities": {"gene": [{"text": "glutathione peroxidase 1", "start": 4, "end": 28}], "disease": [{"text": "inflammation", "start": 118, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Correspondingly, knockdown of FILIP1L in FILIP1L-high expressing, low-invasive cancer cell lines resulted in increase of cell invasion.", "output": {"entities": {"gene": [{"text": "FILIP1L", "start": 30, "end": 37}], "disease": [{"text": "invasive cancer", "start": 70, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that in addition to GRIM-19, the protein level of NDUFS3, which is another mitochondrial complex I subunit, was also diminished in kidney tumor tissues when compared with paired normal tissues.", "output": {"entities": {"gene": [{"text": "NDUFS3", "start": 72, "end": 78}], "disease": [{"text": "kidney tumor", "start": 153, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Altogether, over 50% of the samples showed the CpG-island methylation modification in at least one of the three tumor suppressor genes, indicating that the frequent inactivation of these genes may be an important step during oral cancer development, and the methylation inactivation of P15 or P16 may occur at pre-cancerous stage.", "output": {"entities": {"gene": [{"text": "P15", "start": 286, "end": 289}], "disease": [{"text": "oral cancer", "start": 225, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "rs17271305 (VPS13C) was nominally associated with 2 h blood glucose (P = 0. 009), but not with any of the insulin or insulin sensitivity parameters.", "output": {"entities": {"gene": [{"text": "VPS13C", "start": 12, "end": 18}], "disease": [{"text": "insulin sensitivity", "start": 117, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the mechanism by which these substitutions cause AS, we determined the crystal structures of these two FGFR2 mutants in complex with fibroblast growth factor 2 (FGF2).", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 116, "end": 121}], "disease": [{"text": "AS", "start": 62, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 116, "end": 121}, "tail": {"text": "AS", "start": 62, "end": 64}}]}}, "schema": []}
{"input": "We modeled ATM sequence variants identified in UK A-T patients to determine the stability and kinase activity of the resulting proteins as well as the distribution of these mutations across the coding region.", "output": {"entities": {"gene": [{"text": "ATM", "start": 11, "end": 14}], "disease": [{"text": "A-T", "start": 50, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 11, "end": 14}, "tail": {"text": "A-T", "start": 50, "end": 53}}]}}, "schema": []}
{"input": "The up-regulated secretion of IL-10 may inhibit immune responses against HPV infection in early cervical lesions, whereas up-regulated TNF-alpha and uncoordinated cytokine secretion (elevated both Th1 and Th2 cytokines) may reflect impaired or invalid responses in advanced stage lesions.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 30, "end": 35}], "disease": [{"text": "uncoordinated", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We measured the mean systolic blood pressure, renal 11beta-HSD1, and mRNA levels in streptozotocin (STZ)-induced diabetic rats that received spironolactone, insulin, or no treatment, and in nondiabetic controls that received spironolactone.", "output": {"entities": {"gene": [{"text": "STZ", "start": 100, "end": 103}], "disease": [{"text": "systolic blood pressure", "start": 21, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "A novel type of normal human ND4 gene was synthesized artificially to contain a mitochondrial targeting sequence that induces the translocation of this gene into mitochondria.", "output": {"entities": {"gene": [{"text": "ND4", "start": 29, "end": 32}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.", "output": {"entities": {"gene": [{"text": "MLL2", "start": 21, "end": 25}], "disease": [{"text": "Kabuki syndrome", "start": 41, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLL2", "start": 21, "end": 25}, "tail": {"text": "Kabuki syndrome", "start": 41, "end": 56}}]}}, "schema": []}
{"input": "We hypothesized that the Hp genotype would predict progression of coronary artery calcification (CAC), a marker of subclinical atherosclerosis.", "output": {"entities": {"gene": [{"text": "CAC", "start": 97, "end": 100}], "disease": [{"text": "coronary artery calcification", "start": 66, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Analysis of p53 sequence revealed that the gene was mutant in 33/50 (66%) BRCA-associated tumours, whereas 7/20 (35%) sporadic grade-matched tumours contained p53 mutation (P < 0. 05).", "output": {"entities": {"gene": [{"text": "p53", "start": 12, "end": 15}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Prohibitin-2 binding modulates insulin-like growth factor-binding protein-6 (IGFBP-6)-induced rhabdomyosarcoma cell migration.", "output": {"entities": {"gene": [{"text": "Prohibitin", "start": 0, "end": 10}], "disease": [{"text": "rhabdomyosarcoma", "start": 94, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Importantly, 1α, 25 (OH) 2D3 treatment restores the levels of 53BP1 as efficiently as cathepsin L inhibitors, which results in increased genomic instability in response to PARPi or radiation, and reduced proliferation.", "output": {"entities": {"gene": [{"text": "53BP1", "start": 62, "end": 67}], "disease": [{"text": "genomic instability", "start": 137, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Expression profiling and clinicopathological significance of DNA methyltransferase 1, 3A and 3B in sporadic human renal cell carcinoma.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase 1", "start": 61, "end": 84}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Eva1 knockdown in GICs reduced their self-renewal and tumor-forming capabilities, whereas Eva1 overexpression enhanced these properties.", "output": {"entities": {"gene": [{"text": "Eva1", "start": 0, "end": 4}], "disease": [{"text": "tumor", "start": 54, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.", "output": {"entities": {"gene": [{"text": "prohibitin", "start": 143, "end": 153}], "disease": [{"text": "HCC", "start": 333, "end": 336}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prohibitin", "start": 143, "end": 153}, "tail": {"text": "HCC", "start": 333, "end": 336}}]}}, "schema": []}
{"input": "Importantly, residual tumor masses from mice treated by the antibodies and BRAF/ERK inhibitors combo are characterized almost exclusively by large necrotic areas with limited residual areas of tumor growth.", "output": {"entities": {"gene": [{"text": "ERK", "start": 80, "end": 83}], "disease": [{"text": "necrotic", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "[Effect of intracerebral injections of somatostatin and neurotensin on motor functions in seizure].", "output": {"entities": {"gene": [{"text": "somatostatin", "start": 39, "end": 51}], "disease": [{"text": "seizure", "start": 90, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "somatostatin", "start": 39, "end": 51}, "tail": {"text": "seizure", "start": 90, "end": 97}}]}}, "schema": []}
{"input": "T/N (d) ratios determined by (99m) Tc-MIBI scintigraphy are useful in the prediction of response to chemotherapy with epirubicin and cyclophosphamide or docetaxel as well as in the in vivo evaluation of P-gp expression status in tumors in patients with locally advanced or recurrent breast carcinoma.", "output": {"entities": {"gene": [{"text": "P-gp", "start": 203, "end": 207}], "disease": [{"text": "recurrent breast carcinoma", "start": 273, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Treatment of leiomyoma cells with a phosphatidylinositol 3-kinase inhibitor, LY294 dramatically decreased levels of phospho (Ser 473)-AKT, despite R5020 treatment.", "output": {"entities": {"gene": [{"text": "AKT", "start": 134, "end": 137}], "disease": [{"text": "leiomyoma", "start": 13, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Conversely, excess Ca2 + elicited necrosis and activated calpain but not caspase-3.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 19, "end": 22}], "disease": [{"text": "necrosis", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The presence of BPI-ANCA was associated with the number of antibiotic courses, low body mass index, Pseudomonas aeruginosa colonisation, the presence of resistant P. aeruginosa, low forced expiratory volume in 1 s, CF-related liver disease, hypergammaglobulinaemia, male sex and inflammatory syndrome.", "output": {"entities": {"gene": [{"text": "BPI", "start": 16, "end": 19}], "disease": [{"text": "forced expiratory volume", "start": 182, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "Glyphosate-rich farm air samples as well as glyphosate alone were found to induce pulmonary IL-13-dependent inflammation and promote Th2 type cytokines, but not IL-4 for glyphosate alone.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 161, "end": 165}], "disease": [{"text": "inflammation", "start": 108, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "RNA sequencing from peri-infarct cortical neurons revealed that GDF10 downregulated PTEN, upregulated PI3 kinase signaling and induced specific axonal guidance molecules.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 84, "end": 88}], "disease": [{"text": "infarct", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Because skeletal muscle mitochondrial proton leak may account for a large proportion of resting metabolic rate, we compared proton leak in diet-resistant and diet-responsive overweight women and compared the expression and gene characteristics of uncoupling protein (UCP) 2 and UCP3.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 278, "end": 282}], "disease": [{"text": "overweight", "start": 174, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The hypothalamus-pituitary-adrenal (HPA) axis is known to have a role in suicidal behaviors in patients with affective disorders.", "output": {"entities": {"gene": [{"text": "HPA", "start": 36, "end": 39}], "disease": [{"text": "suicidal", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we explored the role of genetic variants of angiotensinogen (AGT, M235T), ACE (I/D), and angiotensin type 1 receptor (ATR1, A1166C) as predictors of rapid progression of subclinical coronary atherosclerosis.", "output": {"entities": {"gene": [{"text": "ATR1", "start": 140, "end": 144}], "disease": [{"text": "coronary atherosclerosis", "start": 204, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "We propose that neonatal Nav1. 5 is a novel marker with significant clinical potential for management of metastatic breast cancer and describe a number of approaches which may enable tumour-specific targeting.", "output": {"entities": {"gene": [{"text": "Nav1. 5", "start": 25, "end": 32}], "disease": [{"text": "tumour", "start": 183, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "A 47-year-old female with idiopathic myelofibrosis developed isolated granulocytic sarcoma with der (1; 7) (q10; p10) after splenectomy, followed by acute myelogenous leukemia.", "output": {"entities": {"gene": [{"text": "p10", "start": 113, "end": 116}], "disease": [{"text": "idiopathic myelofibrosis", "start": 26, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Infection of sheep with SSBP/1 scrapie resulted in PrP (Sc) deposition in the draining prescapular lymph node (PSLN) by 25 days post infection (dpi) in VRQ/VRQ genotype sheep and 75 dpi in tonsils and spleen.", "output": {"entities": {"gene": [{"text": "SSBP", "start": 24, "end": 28}], "disease": [{"text": "scrapie", "start": 31, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Both types of changes in kinetics result in increased channel activity in response to a given mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2.", "output": {"entities": {"gene": [{"text": "PIEZO2", "start": 207, "end": 213}], "disease": [{"text": "Distal Arthrogryposis Type 5", "start": 131, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIEZO2", "start": 207, "end": 213}, "tail": {"text": "Distal Arthrogryposis Type 5", "start": 131, "end": 159}}]}}, "schema": []}
{"input": "The author thinks that this tumor is PAL with inflammatory reaction.", "output": {"entities": {"gene": [{"text": "PAL", "start": 37, "end": 40}], "disease": [{"text": "tumor", "start": 28, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Fryns syndrome can be caused by recessive mutations in PIGN.", "output": {"entities": {"gene": [{"text": "PIGN", "start": 55, "end": 59}], "disease": [{"text": "Fryns syndrome", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIGN", "start": 55, "end": 59}, "tail": {"text": "Fryns syndrome", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "The regulatory function of TGF-beta1 on the expression of these genes was further evaluated using leiomyoma (L) and myometrial (M) smooth muscle cells (SMC).", "output": {"entities": {"gene": [{"text": "SMC", "start": 152, "end": 155}], "disease": [{"text": "leiomyoma", "start": 98, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Myc and Sin3a/b co-occupied many sites on the chromatin of human leukemia cells, although the presence of Sin3 was not associated with gene down-regulation.", "output": {"entities": {"gene": [{"text": "Sin3a", "start": 8, "end": 13}], "disease": [{"text": "leukemia", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The CGH results in these two groups of male breast cancers are almost identical to those identified in the corresponding sporadic and BRCA2-associated female breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 134, "end": 139}], "disease": [{"text": "sporadic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that transgenic expression of human HtrA2/Omi in the central nervous system of mnd2 mice rescues them from neurodegeneration and prevents their premature death.", "output": {"entities": {"gene": [{"text": "HtrA2", "start": 50, "end": 55}], "disease": [{"text": "neurodegeneration", "start": 121, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We identified an acquired CBL mutation and 11q-acquired uniparental disomy (11q-aUPD) in a patient with chronic myelomonocytic leukemia (CMML) secondary to FPD with RUNX1 mutation but not in the same patient during refractory cytopenia.", "output": {"entities": {"gene": [{"text": "CBL", "start": 26, "end": 29}], "disease": [{"text": "uniparental disomy", "start": 56, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Thus, our results indicate that DDX11 functions as a positive regulator of rRNA transcription and provides a novel insight into the pathogenesis of WABS.", "output": {"entities": {"gene": [{"text": "DDX11", "start": 32, "end": 37}], "disease": [{"text": "WABS", "start": 148, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DDX11", "start": 32, "end": 37}, "tail": {"text": "WABS", "start": 148, "end": 152}}]}}, "schema": []}
{"input": "Taken together, these results show a novel role for p53 in mediating muscle stem cell behavior and muscle atrophy, and point to new targets for the therapeutic treatment of muscle wasting.", "output": {"entities": {"gene": [{"text": "p53", "start": 52, "end": 55}], "disease": [{"text": "muscle wasting", "start": 173, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "We observed a higher number of patients with the genotype E3/3 in the group without hyperlipidemia PST (P = 0. 039).", "output": {"entities": {"gene": [{"text": "PST", "start": 99, "end": 102}], "disease": [{"text": "hyperlipidemia", "start": 84, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "CCL5/RANTES genotyping was performed by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) in 306 asthmatic patients with non-atopic (n = 145) and atopic (n = 161) asthma and 242 controls.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 5, "end": 11}], "disease": [{"text": "atopic", "start": 153, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domain 2 of the actin-modulating protein gelsolin causes the neurodegenerative disease familial amyloidosis of Finnish type (FAF).", "output": {"entities": {"gene": [{"text": "FAF", "start": 200, "end": 203}], "disease": [{"text": "neurodegenerative disease", "start": 136, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man.", "output": {"entities": {"gene": [{"text": "loricrin", "start": 89, "end": 97}], "disease": [{"text": "ichthyosis", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Studies of human immunodeficiency virus (HIV)-positive men have demonstrated high rates of anal intraepithelial neoplasia (AIN), a precursor to anal carcinoma, mostly in white homosexual men and men not receiving effective antiretroviral therapy (ART).", "output": {"entities": {"gene": [{"text": "ART", "start": 247, "end": 250}], "disease": [{"text": "carcinoma", "start": 149, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "This new proposed phenotype for AAT transcends classic pattern of strictly liver and lung disease, and should be considered for proper evaluation and management of patients presenting with classic AAT-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory.", "output": {"entities": {"gene": [{"text": "AAT", "start": 32, "end": 35}], "disease": [{"text": "white matter disease", "start": 259, "end": 279}]}, "relations": {}}, "schema": []}
{"input": "Of 13 proteins expressed in IM or SPEM, 8 were expressed by 17%-50% of human gastric cancer tissues (MUC13, OLFM4, CDH17, KRT20, MUC5AC, LGALS4, AKR1B10, REG4).", "output": {"entities": {"gene": [{"text": "LGALS4", "start": 137, "end": 143}], "disease": [{"text": "gastric cancer", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The European at-risk alleles at five loci including GNPDA2, BCDIN3D/FAIM2, SH2B1, FTO, and KCTD15 were significantly associated with increased body mass index (BMI), waist circumference (4. 5 x 10 (-8) < P < 0. 024), and/or obesity risk (odds ratio 1. 14-1. 22, 2. 0 x 10 (-5) < P < 0. 002) in our Chinese populations.", "output": {"entities": {"gene": [{"text": "BCDIN3D", "start": 60, "end": 67}], "disease": [{"text": "obesity", "start": 224, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "In humans, mutations in the pantothenate kinase-2 gene, which encodes a key enzyme in CoA biosynthesis, are associated with neurodegeneration and premature death.", "output": {"entities": {"gene": [{"text": "pantothenate kinase-2", "start": 28, "end": 49}], "disease": [{"text": "neurodegeneration", "start": 124, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pantothenate kinase-2", "start": 28, "end": 49}, "tail": {"text": "neurodegeneration", "start": 124, "end": 141}}]}}, "schema": []}
{"input": "All together, we show that administration of Sfrp4 interferes with canonical Wnt signaling that could mediate the formation of acellular scar and consequently contributes to the prevention of aggravation of cardiac function.", "output": {"entities": {"gene": [{"text": "Sfrp4", "start": 45, "end": 50}], "disease": [{"text": "scar", "start": 137, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that the loss of hPOT1 by RNA interference in BGC823 (poorly differentiated human gastric adenocarcinoma) cells leads to an increase in multinucleated giant cells, a decrease in cell proliferation and colony formation, induction of senescence and apoptosis, shortened telomere length, upregulation of the TRF1 gene and downregulation of the TRF2, tankyrase1 and hTERT genes.", "output": {"entities": {"gene": [{"text": "TRF1", "start": 319, "end": 323}], "disease": [{"text": "gastric adenocarcinoma", "start": 96, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The decreased expression may influence the expression of VEGF-A which interferes with placental angiogenesis causing failure of embryo implantation, leading to spontaneous abortion.", "output": {"entities": {"gene": [{"text": "VEGF-A", "start": 57, "end": 63}], "disease": [{"text": "spontaneous abortion", "start": 160, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "We have identified a polymorphic tetranucleotide consisting of (AAAT) n within the first intron of the parathyroid hormone (PTH) gene, and have used this to investigate the segregation of the PTH gene and idiopathic hypoparathyroidism in 7 affected and 21 unaffected members from three families.", "output": {"entities": {"gene": [{"text": "AAAT", "start": 64, "end": 68}], "disease": [{"text": "idiopathic hypoparathyroidism", "start": 205, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "The subjects homozygous for the PNPLA3 148M allele carrying the rare variant of TM6SF2 showed an odds ratio of 12. 2 (confidence interval 3. 8-39. 6, P = 0. 000001) to present hypertransaminasaemia compared with the remaining patients.", "output": {"entities": {"gene": [{"text": "TM6SF2", "start": 80, "end": 86}], "disease": [{"text": "hypertransaminasaemia", "start": 176, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "All other parameters (fibrosis area, CD45, and CD68) were not different between the VF + and VF-group in both SCN5A + and SCN5A-patients.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 110, "end": 115}], "disease": [{"text": "fibrosis", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "We previously demonstrated that expression of androgen receptor (AR) by transfection of the androgen-independent prostate cancer cell line PC3 decreases invasion and adhesion of these cells (PC3-AR) through modulation of alpha6beta4 integrin expression.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 46, "end": 63}], "disease": [{"text": "adhesion", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the BCKDHA, BCKDHB, DBT and DLD genes, which encode the E1α, E1β, E2 and E3 subunits of the branched chain α ketoacid dehydrogenase (BCKD) complex, respectively.", "output": {"entities": {"gene": [{"text": "BCKDHA", "start": 104, "end": 110}], "disease": [{"text": "metabolic disease", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Although BRCA1 and BRCA2 play important roles in hereditary ovarian cancers, the extent of their role in sporadic ovarian cancers and their mechanisms of inactivation are not yet well understood.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 19, "end": 24}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Quantification by isoform specific real-time PCR revealed higher expression of AKR1C1 in nine specimens and higher expression of AKR1C3 in four specimens of endometrial cancer.", "output": {"entities": {"gene": [{"text": "AKR1C1", "start": 79, "end": 85}], "disease": [{"text": "endometrial cancer", "start": 157, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKR1C1", "start": 79, "end": 85}, "tail": {"text": "endometrial cancer", "start": 157, "end": 175}}]}}, "schema": []}
{"input": "The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.", "output": {"entities": {"gene": [{"text": "BLM", "start": 104, "end": 107}], "disease": [{"text": "BS", "start": 82, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLM", "start": 104, "end": 107}, "tail": {"text": "BS", "start": 82, "end": 84}}]}}, "schema": []}
{"input": "PLA2 activation and PG production are among the earliest initiating events in triggering brain-damage pathways, which can lead to long-term neurologic deficits.", "output": {"entities": {"gene": [{"text": "PLA2", "start": 0, "end": 4}], "disease": [{"text": "neurologic deficits", "start": 140, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In this regard, GAL and its receptors appear to be a promising target for pharmacological therapy of anxiety and affective disorders.", "output": {"entities": {"gene": [{"text": "GAL", "start": 16, "end": 19}], "disease": [{"text": "affective disorders", "start": 113, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAL", "start": 16, "end": 19}, "tail": {"text": "affective disorders", "start": 113, "end": 132}}]}}, "schema": []}
{"input": "Quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting were used to assess changes in the mRNA and/or protein levels of BDNF, TrkB, and the downstream signaling proteins calcium-calmodulin kinase II (CaMKII) and extracellular related kinase 1/2 (ERK1/2) at 1 h, 24 h, and 7 days following administration of intermittent noxious shock to the tail of contused subjects.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 145, "end": 149}], "disease": [{"text": "shock", "start": 353, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "The PI3-K/AKT pathway is known to have a role in both skin cancer development and resistance to therapeutic drugs.", "output": {"entities": {"gene": [{"text": "AKT", "start": 10, "end": 13}], "disease": [{"text": "skin cancer", "start": 54, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT", "start": 10, "end": 13}, "tail": {"text": "skin cancer", "start": 54, "end": 65}}]}}, "schema": []}
{"input": "Assuming either a dominant or recessive mode of inheritance, close linkage to the marker PFKL, which has been reported as possibly linked to affective disorder, seems unlikely in the families studied here.", "output": {"entities": {"gene": [{"text": "PFKL", "start": 89, "end": 93}], "disease": [{"text": "affective disorder", "start": 141, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PFKL", "start": 89, "end": 93}, "tail": {"text": "affective disorder", "start": 141, "end": 159}}]}}, "schema": []}
{"input": "Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death.", "output": {"entities": {"gene": [{"text": "MIM", "start": 39, "end": 42}], "disease": [{"text": "craniosynostosis", "start": 169, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The expression rates of Notch1 and Notch3 protein in tongue carcinoma were higher than those in adjacent non-neoplastic tongue tissues (χ² = 6. 10, P = 0. 013; χ² = 3. 94, P = 0. 047).", "output": {"entities": {"gene": [{"text": "Notch1", "start": 24, "end": 30}], "disease": [{"text": "non-neoplastic", "start": 105, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive.", "output": {"entities": {"gene": [{"text": "mineralocorticoid receptor", "start": 27, "end": 53}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "2) IL28Brs12979860 polymorphisms are not associated with disease progression or aggression (histological staging, severity of fibrosis in CH or the incidence of post-HCV HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 170, "end": 173}], "disease": [{"text": "fibrosis", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "This phenomenon could be ligand independent, as the AhR ligand 2, 3, 7, 8-Tetrachlorodibenzo-p-Dioxin (TCDD) did not alter prostate cancer cell growth.", "output": {"entities": {"gene": [{"text": "AhR", "start": 52, "end": 55}], "disease": [{"text": "prostate cancer", "start": 123, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AhR", "start": 52, "end": 55}, "tail": {"text": "prostate cancer", "start": 123, "end": 138}}]}}, "schema": []}
{"input": "To evaluate whether the Trp64Arg polymorphism in the beta3-adrenergic receptor (AR) gene is associated with decreased birth weight and might account for some of the association between birth weight and impaired insulin sensitivity, the beta3-AR genotype was assessed in 296 neonates of singleton pregnancies, including 76 neonates classified as small for gestational age (SGA) and 220 neonate classified as appropriate for gestational age (AGA).", "output": {"entities": {"gene": [{"text": "beta3", "start": 53, "end": 58}], "disease": [{"text": "small for gestational age", "start": 345, "end": 370}]}, "relations": {}}, "schema": []}
{"input": "The results showed that (1) PM2. 5 deposited in the lung and induced pathological damage, particularly causing abnormal alterations of mitochondrial structure, including mitochondrial swelling and cristae disorder or even fragmentation in the presence of higher doses of PM2. 5; (2) PM2. 5 significantly affected the expression of specific mitochondrial fission/fusion markers (OPA1, Mfn1, Mfn2, Fis1, and Drp1) in rat lung; (3) PM2. 5 inhibited Mn superoxide dismutase (MnSOD), Na (+) K (+)-ATPase, and Ca (2 +)-ATPase activities and elevated malondialdehyde (MDA) content in rat lung mitochondria; and (4) PM2. 5 induced rat AMs to produce ROS, which was inhibited by about 84. 1% by diphenyleneiodonium chloride (DPI), an important ROS generation inhibitor.", "output": {"entities": {"gene": [{"text": "DPI", "start": 716, "end": 719}], "disease": [{"text": "mitochondrial swelling", "start": 170, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Additionally, recent pre-clinical studies suggested enzalutamide might have the potential adverse effect of inducing metastasis of prostate cancer cells via Stat3 activation.", "output": {"entities": {"gene": [{"text": "Stat3", "start": 157, "end": 162}], "disease": [{"text": "prostate cancer", "start": 131, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Stat3", "start": 157, "end": 162}, "tail": {"text": "prostate cancer", "start": 131, "end": 146}}]}}, "schema": []}
{"input": "These studies demonstrate that destruction of the elastin fiber network during AAA formation is dependent on macrophage-derived MT1-MMP, which unexpectedly serves as a direct-acting regulator of macrophage proteolytic activity.", "output": {"entities": {"gene": [{"text": "MT1-MMP", "start": 128, "end": 135}], "disease": [{"text": "AAA", "start": 79, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MT1-MMP", "start": 128, "end": 135}, "tail": {"text": "AAA", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies.", "output": {"entities": {"gene": [{"text": "KAT8", "start": 22, "end": 26}], "disease": [{"text": "autism", "start": 90, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KAT8", "start": 22, "end": 26}, "tail": {"text": "autism", "start": 90, "end": 96}}]}}, "schema": []}
{"input": "Supporting this hypothesis, arthritic disease driven by exuberant TNF-alpha expression was not impeded by fibrinogen deficiency.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 66, "end": 75}], "disease": [{"text": "fibrinogen deficiency", "start": 106, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 80, "end": 84}], "disease": [{"text": "PKD1", "start": 94, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKD1", "start": 80, "end": 84}, "tail": {"text": "PKD1", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "For example, the concomitant presence of the epidermal growth factor (EGF) receptor and its ligand EGF is associated with enhanced tumor aggressiveness and shorter survival following tumor resection.", "output": {"entities": {"gene": [{"text": "EGF", "start": 70, "end": 73}], "disease": [{"text": "aggressiveness", "start": 137, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Two heat-shock elements (HSE) are present in the rat HSP70 promoter.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 53, "end": 58}], "disease": [{"text": "shock", "start": 9, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "AIM: To use a range of assays, genetically modified animals and pharmacological tools to determine the role of NF-κB in CS-induced airway inflammation.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 138, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "IL-17A signaling is suppressed due to the downregulation of the receptor by the intrinsic activation of TGF-β1 in SSc fibroblasts, which may amplify the increased collagen accumulation and fibrosis characteristic of SSc.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 0, "end": 6}], "disease": [{"text": "fibrosis", "start": 189, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Changes in paired-pulse facilitation that became overt in the presence of the GABAA antagonist picrotoxin indicated a function of mGluR4 in maintaining the excitation/inhibition balance, which is of crucial importance for information processing in the brain and the deterioration of these processes in neuropsychological disorders such as autism, epilepsy and schizophrenia.", "output": {"entities": {"gene": [{"text": "mGluR4", "start": 130, "end": 136}], "disease": [{"text": "schizophrenia", "start": 360, "end": 373}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR4", "start": 130, "end": 136}, "tail": {"text": "schizophrenia", "start": 360, "end": 373}}]}}, "schema": []}
{"input": "We conducted an in-depth characterization of 210 T-cell receptor beta chain (TRB) clonotypes derived from T cells of HLA-A2 + melanoma patients displaying cytotoxic activity against natural and A27L-modified Melan-A peptides.", "output": {"entities": {"gene": [{"text": "TRB", "start": 77, "end": 80}], "disease": [{"text": "melanoma", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Therefore replacement of part of the amino-terminal kinase regulatory domain of ATF-1 protein with EWS regulatory domain results in an altered DNA binding, protein-protein interactions and transcriptional activation properties of EWS-ATF-1 causing deregulated gene expression which may be responsible for the genesis of t (12; 22) chromosome translocation-bearing human solid tumors.", "output": {"entities": {"gene": [{"text": "EWS", "start": 99, "end": 102}], "disease": [{"text": "chromosome translocation", "start": 331, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "Glycoprotein Ibalpha inhibition and ADP receptor antagonists, but not aspirin, reduce platelet thrombus formation in flowing blood exposed to atherosclerotic plaques.", "output": {"entities": {"gene": [{"text": "ADP receptor", "start": 36, "end": 48}], "disease": [{"text": "thrombus", "start": 95, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADP receptor", "start": 36, "end": 48}, "tail": {"text": "thrombus", "start": 95, "end": 103}}]}}, "schema": []}
{"input": "Ablation of the GNB3 gene in mice does not affect body weight, metabolism or blood pressure, but causes bradycardia.", "output": {"entities": {"gene": [{"text": "GNB3 gene", "start": 16, "end": 25}], "disease": [{"text": "bradycardia", "start": 104, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The objective of the study was to assess LOX-1 expression and Nrf2 activation in preeclamptic placentas and to manifest their physiological roles in preeclampsia.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 62, "end": 66}], "disease": [{"text": "preeclampsia", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The breakpoint cluster region is characterized by a complex architecture with large (approximately 38-49 kb), inverted and directly oriented, low-copy repeats (LCRs), known as REPA and REPB that apparently lead to genomic instability and facilitate somatic genetic rearrangements.", "output": {"entities": {"gene": [{"text": "breakpoint cluster region", "start": 4, "end": 29}], "disease": [{"text": "genomic instability", "start": 214, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Microarray-based gene expression data unexpectedly demonstrated a significant number of up-or down-regulated immune-and inflammation-related genes, including many well-known interferon (IFN)-induced genes (e. g., IFI44L, PSMB8, IRF5, PSMB10, IFI27, PSB9_HUMAN, IFIT2, TRAIL, IFIT1, PSB8_HUMAN, IRF1, B2M and GBP1), major histocompatibility complex (MHC) class I molecules (e. g., HLA-B, HLA-C, HLA-F and HLA-H) and interleukin (IL)-related genes (e. g., IL20RB, GALT, IL7, IL1B, IL11, IL1F8, IL1A, IL6 and IL7R), which was confirmed by qRT-PCR.", "output": {"entities": {"gene": [{"text": "IFIT2", "start": 261, "end": 266}], "disease": [{"text": "inflammation", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In summary: 1) a second generation recombinant adenovirus resulted in high-level expression of human apoA-I in mice; 2) significantly higher levels of human apoA-I persisted for a longer time in LDLR-deficient mice compared with apoE-deficient mice; and 3) substantial human apoA-I was found associated with TG-rich lipoproteins in apoE-deficient but not LDLR-deficient mice.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 195, "end": 199}], "disease": [{"text": "adenovirus", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.", "output": {"entities": {"gene": [{"text": "Folate receptor alpha", "start": 0, "end": 21}], "disease": [{"text": "cerebral folate transport deficiency", "start": 36, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Folate receptor alpha", "start": 0, "end": 21}, "tail": {"text": "cerebral folate transport deficiency", "start": 36, "end": 72}}]}}, "schema": []}
{"input": "Higher [Ca2 +] i results in greater calcium-dependent proteolysis, which may eventually lead to necrosis.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 8, "end": 11}], "disease": [{"text": "necrosis", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Using exome and genome sequencing, we identified the recurrent de novo mutations c. 650G & gt; A (p. Arg217His) and c. 649C & gt; T (p. Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS.", "output": {"entities": {"gene": [{"text": "SLC25A24", "start": 150, "end": 158}], "disease": [{"text": "GCMS", "start": 198, "end": 202}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC25A24", "start": 150, "end": 158}, "tail": {"text": "GCMS", "start": 198, "end": 202}}]}}, "schema": []}
{"input": "Importantly, both CHK2 and BRCA1 are lost at very high frequency in aneuploid lung adenocarcinomas that are typically induced in knockout mice exhibiting chromosomal instability.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 27, "end": 32}], "disease": [{"text": "aneuploid", "start": 68, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Genotype-phenotype correlations for APS-1 remain difficult, suggesting that other genetic or environmental factors, or both, influence the clinical presentation and disease progression in individual APS-1 patients.", "output": {"entities": {"gene": [{"text": "APS-1", "start": 36, "end": 41}], "disease": [{"text": "APS-1", "start": 199, "end": 204}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APS-1", "start": 36, "end": 41}, "tail": {"text": "APS-1", "start": 199, "end": 204}}]}}, "schema": []}
{"input": "In this study, we focus on the regulation of ER & #945; by miR-301a and its role in transition from estrogen-dependent to estrogen-independent breast cancer.", "output": {"entities": {"gene": [{"text": "miR-301a", "start": 59, "end": 67}], "disease": [{"text": "breast cancer", "start": 143, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-301a", "start": 59, "end": 67}, "tail": {"text": "breast cancer", "start": 143, "end": 156}}]}}, "schema": []}
{"input": "Germline deletions in the EPCAM gene as a cause of Lynch syndrome-literature review.", "output": {"entities": {"gene": [{"text": "EPCAM", "start": 26, "end": 31}], "disease": [{"text": "Lynch syndrome", "start": 51, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPCAM", "start": 26, "end": 31}, "tail": {"text": "Lynch syndrome", "start": 51, "end": 65}}]}}, "schema": []}
{"input": "RESULTS: The median concentrations of VEGF, IL-8, and TNF-alpha were significantly higher in induced sputum of COPD patients (1, 070 pg/ml, 5. 6 ng/ml and 50 pg/ml, respectively) compared to nonsmokers (260 pg/ml, 0. 73 ng/ml, and 15. 4 pg/ml, respectively, p < 0. 05) and asymptomatic smokers (421 pg/ml, 1. 27 ng/ml, p < 0. 05, and 18. 6 pg/ml, p > 0. 05, respectively).", "output": {"entities": {"gene": [{"text": "IL-8", "start": 44, "end": 48}], "disease": [{"text": "asymptomatic", "start": 273, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results suggest that activated Ki-Ras-mediated signals are involved in the SEK1-JNK pathway through a PKC isotype that is distinct from that involved in MEK1/2-ERK activation in human colon cancer cells and independent of phosphoinositol 3-kinase activation, and the imbalance between ERK and JNK activity caused by activated Ki-Ras may play critical roles in human colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "SEK1", "start": 97, "end": 101}], "disease": [{"text": "colon cancer", "start": 206, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "The hypothesis that the atrium could be a source of BNP was examined in patients with lone atrial fibrillation (AF), the most common type of sustained arrhythmia.", "output": {"entities": {"gene": [{"text": "BNP", "start": 52, "end": 55}], "disease": [{"text": "arrhythmia", "start": 151, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Our results are the first to show that PDE4A expression is altered in patients with bipolar disorder and provide potential new therapeutic avenues for treatment of this disorder.", "output": {"entities": {"gene": [{"text": "PDE4A", "start": 39, "end": 44}], "disease": [{"text": "bipolar disorder", "start": 84, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE4A", "start": 39, "end": 44}, "tail": {"text": "bipolar disorder", "start": 84, "end": 100}}]}}, "schema": []}
{"input": "The aim of the current study was to clarify whether SFRP2 methylation and K-ras structural mutation in fecal DNA can be found in stool and tumoral tissues of individuals with fistula-associated mucinous type anal adenocarcinomas (MTAA). Two man patients (68 and 56 years old) were treated for anorectal fistula in the surgical department.", "output": {"entities": {"gene": [{"text": "SFRP2", "start": 52, "end": 57}], "disease": [{"text": "fistula", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Some studies have pointed to a role of UCP3 in the regulation of biochemical and fat parameters in overweight patients.", "output": {"entities": {"gene": [{"text": "UCP3", "start": 39, "end": 43}], "disease": [{"text": "overweight", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Three of the genes, QPCT, CYP1B1, and LXN, are densely methylated in & gt; 95% of uncultured melanoma tumor samples.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 26, "end": 32}], "disease": [{"text": "melanoma", "start": 93, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1B1", "start": 26, "end": 32}, "tail": {"text": "melanoma", "start": 93, "end": 101}}]}}, "schema": []}
{"input": "A common developmental language disorder, specific language impairment (SLI), affects 6%-7% of children with normal nonverbal intelligence and has evidence of a genetic basis in familial and twin studies.", "output": {"entities": {"gene": [{"text": "SLI", "start": 72, "end": 75}], "disease": [{"text": "developmental language disorder", "start": 9, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Somatic Chk2 coding mutations were detected in 7/141 cases, these occurring in 4/18 BRCA1-associated breast cancers, 1/78 sporadic breast cancers and 2/25 typical medullary carcinomas.", "output": {"entities": {"gene": [{"text": "Chk2", "start": 8, "end": 12}], "disease": [{"text": "sporadic", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Polymorphism of the platelet glycoprotein IIIa gene in patients with coronary stenosis.", "output": {"entities": {"gene": [{"text": "platelet glycoprotein IIIa", "start": 20, "end": 46}], "disease": [{"text": "coronary stenosis", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Hypomethylation of the cyclin D2 promoter was found in 24 (71%) of the 34 tumor tissues and in 6 (29%) of the 21 corresponding non-neoplastic mucosa, the incidence being significantly different (p = 0. 002; Fisher' s exact test).", "output": {"entities": {"gene": [{"text": "cyclin D2", "start": 23, "end": 32}], "disease": [{"text": "non-neoplastic", "start": 127, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "In addition, 74 point mutations are known to enhance amyloid formation causing familial amyloidotic polyneuropathy (PAP).", "output": {"entities": {"gene": [{"text": "PAP", "start": 116, "end": 119}], "disease": [{"text": "polyneuropathy", "start": 100, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate the importance of the RIP3-MLKL interaction in the formation of functional necrosomes and suggest that translocation of necrosomes to mitochondria-associated membranes is essential for necroptosis signaling.", "output": {"entities": {"gene": [{"text": "RIP3", "start": 43, "end": 47}], "disease": [{"text": "translocation", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 31, "end": 37}], "disease": [{"text": "EDS IV", "start": 110, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 31, "end": 37}, "tail": {"text": "EDS IV", "start": 110, "end": 116}}]}}, "schema": []}
{"input": "A previously reported missense mutation in the CTSC gene (NM_001814. 4: c. 899G & gt; A: p. (G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry.", "output": {"entities": {"gene": [{"text": "CTSC", "start": 47, "end": 51}], "disease": [{"text": "PLS", "start": 169, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTSC", "start": 47, "end": 51}, "tail": {"text": "PLS", "start": 169, "end": 172}}]}}, "schema": []}
{"input": "EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.", "output": {"entities": {"gene": [{"text": "vascular endothelial growth factor receptor-2", "start": 34, "end": 79}], "disease": [{"text": "major depression", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vascular endothelial growth factor receptor-2", "start": 34, "end": 79}, "tail": {"text": "major depression", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "Expression of cell cycle-associated proteins CDK4, p27, and E2F-1 in chondrosarcoma of the jaws.", "output": {"entities": {"gene": [{"text": "p27", "start": 51, "end": 54}], "disease": [{"text": "chondrosarcoma", "start": 69, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "The results indicated that in women with metabolic syndrome waist circumference, body mass index, HOMA index, glucose, total cholesterol and triglyceride levels were significantly increased in parallel with overxpressed plasma levels of leptin and NGF and decreased adiponectin.", "output": {"entities": {"gene": [{"text": "NGF", "start": 248, "end": 251}], "disease": [{"text": "body mass index", "start": 81, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Treatment of MM cells with egr-1 short interfering RNA suppressed proliferation, which was overridden by exogenously added recombinant FGF-1 and, in particular, FGF-2.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 161, "end": 166}], "disease": [{"text": "MM", "start": 13, "end": 15}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-2", "start": 161, "end": 166}, "tail": {"text": "MM", "start": 13, "end": 15}}]}}, "schema": []}
{"input": "To determine the contribution of the tumor necrosis factor alpha gene (TNFA) to the immunogenetic risk prediction of type 1 diabetes (T1D) in the Belgian population, well-characterized antibody-positive patients with type 1 diabetes (T1D), nondiabetic control subjects, and nuclear families were analyzed for HLA-DQA1-DQB1, TNFA-308 G/A promoter single nucleotide polymorphism (SNP) and TNFa microsatellite markers in both case-control and transmission studies.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 59, "end": 69}], "disease": [{"text": "type 1 diabetes", "start": 117, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1.", "output": {"entities": {"gene": [{"text": "endothelin-1", "start": 76, "end": 88}], "disease": [{"text": "craniofacial abnormalities", "start": 28, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelin-1", "start": 76, "end": 88}, "tail": {"text": "craniofacial abnormalities", "start": 28, "end": 54}}]}}, "schema": []}
{"input": "Semaphorin 3E is aberrantly expressed in prostate cancer and affects adhesion and motility of prostate cancer cells, indicating a role for the Sema3E/PlexinD1 signaling pathway in prostate cancer and identifying a new possible target for therapy.", "output": {"entities": {"gene": [{"text": "Sema3E", "start": 143, "end": 149}], "disease": [{"text": "adhesion", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Compared with vehicle-treated control mice, TSA-treated mice exhibited a significant reduction in proteinuria, glomerulonephritis, and spleen weight.", "output": {"entities": {"gene": [{"text": "TSA", "start": 44, "end": 47}], "disease": [{"text": "glomerulonephritis", "start": 111, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The current findings are consistent with a strong tonic influence of leptin receptor signalling on hypothalamic GALP expression under normal conditions, and possible abnormalities in GALP neuronal signalling and their putative targets, thyrotropin-releasing hormone and gonadotropin hormone-releasing hormone neurons, under pathophysiological conditions such as diabetes and obesity.", "output": {"entities": {"gene": [{"text": "GALP", "start": 112, "end": 116}], "disease": [{"text": "abnormalities", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Altered von Willebrand factor molecule in children with thrombosis following asparaginase-prednisone-vincristine therapy for leukemia.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 8, "end": 29}], "disease": [{"text": "thrombosis", "start": 56, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "von Willebrand factor", "start": 8, "end": 29}, "tail": {"text": "thrombosis", "start": 56, "end": 66}}]}}, "schema": []}
{"input": "Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO.", "output": {"entities": {"gene": [{"text": "XPG", "start": 26, "end": 29}], "disease": [{"text": "XP-G", "start": 82, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XPG", "start": 26, "end": 29}, "tail": {"text": "XP-G", "start": 82, "end": 86}}]}}, "schema": []}
{"input": "The gene responsible for Usher syndrome type III is named clarin-1 and it is thought to be involved in hair cell and photoreceptor cell synapses.", "output": {"entities": {"gene": [{"text": "clarin-1", "start": 58, "end": 66}], "disease": [{"text": "Usher syndrome type III", "start": 25, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "clarin-1", "start": 58, "end": 66}, "tail": {"text": "Usher syndrome type III", "start": 25, "end": 48}}]}}, "schema": []}
{"input": "The suppression of either FLJ10540 or FOXM1 could cause significant inhibition on cell migratory and invasive ability in oral cancer cells.", "output": {"entities": {"gene": [{"text": "FLJ10540", "start": 26, "end": 34}], "disease": [{"text": "oral cancer", "start": 121, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Our results confirmed ORMDL3 as a candidate gene for childhood asthma susceptibility.", "output": {"entities": {"gene": [{"text": "ORMDL3", "start": 22, "end": 28}], "disease": [{"text": "asthma susceptibility", "start": 63, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Our study confirms the usefulness of array CGH for increasing the detection rate of NSD1 abnormalities and for diagnosing syndromic patients that do not present an easily recognized phenotype.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 84, "end": 88}], "disease": [{"text": "abnormalities", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "A therapy using a monoclonal antibody to CD40L was developed that slows weight loss, delays paralysis and extends survival in an ALS mouse model.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 41, "end": 46}], "disease": [{"text": "ALS", "start": 129, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CD40L", "start": 41, "end": 46}, "tail": {"text": "ALS", "start": 129, "end": 132}}]}}, "schema": []}
{"input": "However, the presence of one or more of these conditions (asthma, cough or atopy) increased risk (OR 2. 24, 95% CI 1. 15-4. 38) in individuals possessing the T/T genotype at interleukin 1-β-31T/C, but not in those possessing the C/T (OR 0. 87, 95% CI 0. 51-1. 57) or C/C genotypes (OR 0. 58, 95% CI 0. 27-1. 27), and in individuals having the * 2 variable number of tandem repeat allele of IL1RN [OR 5. 09 (1. 39-18. 67)], but not in those without (OR 0. 93, 95% CI 0. 63-1. 35).", "output": {"entities": {"gene": [{"text": "interleukin 1-β", "start": 174, "end": 189}], "disease": [{"text": "atopy", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Day curve studies (blood collected every 2 h for 24 h; n = 2 mild and 7 severe) demonstrated abnormal regulation of aldosterone by ACTH rather than by AII in both groups.", "output": {"entities": {"gene": [{"text": "AII", "start": 151, "end": 154}], "disease": [{"text": "mild", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The most significant joint region contained the gene PABPC1, which should be considered further for its role in UC progression.", "output": {"entities": {"gene": [{"text": "PABPC1", "start": 53, "end": 59}], "disease": [{"text": "UC", "start": 112, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PABPC1", "start": 53, "end": 59}, "tail": {"text": "UC", "start": 112, "end": 114}}]}}, "schema": []}
{"input": "The first priority genes to be selected were genes that are known to be amplified in cancer, which included NKX2. 1, CHST9, CTNND2, SLC25A27, FGFR2, EGFR, and PTGER1.", "output": {"entities": {"gene": [{"text": "SLC25A27", "start": 132, "end": 140}], "disease": [{"text": "cancer", "start": 85, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in suspected WS2-affected probands.", "output": {"entities": {"gene": [{"text": "KITLG", "start": 90, "end": 95}], "disease": [{"text": "Waardenburg syndrome type 2", "start": 43, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KITLG", "start": 90, "end": 95}, "tail": {"text": "Waardenburg syndrome type 2", "start": 43, "end": 70}}]}}, "schema": []}
{"input": "Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 18, "end": 23}], "disease": [{"text": "breast cancer", "start": 159, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 18, "end": 23}, "tail": {"text": "breast cancer", "start": 159, "end": 172}}]}}, "schema": []}
{"input": "Endothelial GATA-6 is a direct transcriptional regulator of genes controlling vascular tone [endothelin-1, endothelin-1 receptor type A, and endothelial nitric oxide synthase (eNOS)], pro-inflammatory genes, CX3CL1 (fractalkine), 5-lipoxygenease-activating protein, and markers of vascular remodeling, including PAI-1 and RhoB.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 141, "end": 174}], "disease": [{"text": "vascular remodeling", "start": 281, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder.", "output": {"entities": {"gene": [{"text": "NDST3", "start": 41, "end": 46}], "disease": [{"text": "bipolar disorder", "start": 68, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDST3", "start": 41, "end": 46}, "tail": {"text": "bipolar disorder", "start": 68, "end": 84}}]}}, "schema": []}
{"input": "A SNP haplotype in the third intron of STAT4 was associated with susceptibility to both rheumatoid arthritis and systemic lupus erythematosus.", "output": {"entities": {"gene": [{"text": "STAT4", "start": 39, "end": 44}], "disease": [{"text": "systemic lupus erythematosus", "start": 113, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "STAT4", "start": 39, "end": 44}, "tail": {"text": "systemic lupus erythematosus", "start": 113, "end": 141}}]}}, "schema": []}
{"input": "Thus, M-CSF is locally produced in periprosthetic tissues of loose hip joints and possibly contributes to periprosthetic weakening and osteolysis via joint fluid, leading to prosthetic loosening.", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 6, "end": 11}], "disease": [{"text": "osteolysis", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Its importance in fluid regulation in cerebral edema conditions has been highlighted in several studies, and we have also shown that translational regulation of AQP4 by miR-320a could prove to be useful in infarct volume reduction in middle cerebral artery occluded rat brain.", "output": {"entities": {"gene": [{"text": "AQP4", "start": 161, "end": 165}], "disease": [{"text": "infarct", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Fifteen kinases were repeatedly vulnerable in myeloma cells, including AKT1, AK3L1, AURKA, AURKB, CDC2L1, CDK5R2, FES, FLT4, GAK, GRK6, HK1, PKN1, PLK1, SMG1, and TNK2.", "output": {"entities": {"gene": [{"text": "GAK", "start": 125, "end": 128}], "disease": [{"text": "myeloma", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Full-field ERGs were consistent with rod-cone dystrophy with pattern ERG evidence of severe macular involvement.", "output": {"entities": {"gene": [{"text": "ERG", "start": 11, "end": 14}], "disease": [{"text": "rod-cone dystrophy", "start": 37, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The present study investigated the potential therapeutic utility of combining a 5-HT7 antagonist with a selective serotonin (5-HT) reuptake inhibitor (SSRI), the standard of care in depression, on circadian rhythm regulation.", "output": {"entities": {"gene": [{"text": "5-HT7", "start": 80, "end": 85}], "disease": [{"text": "depression", "start": 182, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT7", "start": 80, "end": 85}, "tail": {"text": "depression", "start": 182, "end": 192}}]}}, "schema": []}
{"input": "We have therefore investigated the bradykinin B1-receptor (B1R) and B2-receptor (B2R) mRNA expression in rat models of MI, LVH and diabetes mellitus (DM).", "output": {"entities": {"gene": [{"text": "B1R", "start": 59, "end": 62}], "disease": [{"text": "diabetes mellitus", "start": 131, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "Others included: demographic variables (gender, SES, education); the intake of coffee and diet soda; genetic markers (protease inhibitor \" Pi \" type, ABO type, ABH secretor status); and familial pulmonary disease.", "output": {"entities": {"gene": [{"text": "ABH", "start": 160, "end": 163}], "disease": [{"text": "pulmonary disease", "start": 195, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Dynamic iodide trapping by tumor cells expressing the thyroidal sodium iodide symporter.", "output": {"entities": {"gene": [{"text": "sodium iodide symporter", "start": 64, "end": 87}], "disease": [{"text": "tumor", "start": 27, "end": 32}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "sodium iodide symporter", "start": 64, "end": 87}, "tail": {"text": "tumor", "start": 27, "end": 32}}]}}, "schema": []}
{"input": "We aimed to identify microRNAs that regulate inflammation during the development of ulcerative colitis (UC) and progression to colitis-associated colon cancer (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 160, "end": 163}], "disease": [{"text": "colon cancer", "start": 146, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Seven cyst fluids (8%) had either a TP53 mutation or loss of CDKN2A or SMAD4 in addition to KRAS and/or GNAS mutations; 5 of 7 (71%) were clinically malignant, and high-grade cytology was detected in all 5.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 61, "end": 67}], "disease": [{"text": "cyst", "start": 6, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "In an animal model of depression, Flinders Sensitive Line rats, and Sprague Dawley controls we analyzed if 7 weeks of social isolation of adult animals affect the number of newly proliferated cells in the dentate gyrus or mRNAs of Neuropeptide Y (NPY), the NPY-Y1 receptor, nociceptin, BDNF, and the serotonin 5HT1A and 5HT2A receptors, which are molecules involved in hippocampal plasticity.", "output": {"entities": {"gene": [{"text": "nociceptin", "start": 274, "end": 284}], "disease": [{"text": "depression", "start": 22, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "nociceptin", "start": 274, "end": 284}, "tail": {"text": "depression", "start": 22, "end": 32}}]}}, "schema": []}
{"input": "Moreover, CHC and FTCD were useful to distinguish early HCC from benign tumors such as regenerative nodule or focal nodular hyperplasia, because the sensitivity and specificity of the markers are 41. 2% and 77. 8% for CHC, 44. 4% and 80. 0% for FTCD, which is comparable with those of glypican-3 (33. 3% and 100%).", "output": {"entities": {"gene": [{"text": "HCC", "start": 56, "end": 59}], "disease": [{"text": "nodule", "start": 100, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Treatment-naive, HER2-positive BC patients with stage IIIA, B, C or inflammatory disease were randomized 1: 1: 1 to daily afatinib (50 mg), lapatinib (1500 mg), or weekly trastuzumab (4 mg/kg loading dose, then 2 mg/kg/wk) for 6 weeks until surgery or follow-up neoadjuvant treatment.", "output": {"entities": {"gene": [{"text": "HER2", "start": 17, "end": 21}], "disease": [{"text": "inflammatory disease", "start": 68, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The loss of the RPE and photoreceptors in later stages of the disease is a secondary consequence of choroidal degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 16, "end": 19}], "disease": [{"text": "secondary", "start": 75, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of a translocation involving RBP56/hTAFII 68, a protein with sequence homology to both EWS and TLS/FUS.", "output": {"entities": {"gene": [{"text": "EWS", "start": 112, "end": 115}], "disease": [{"text": "translocation", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of HIF-1α expression was constructed by adenovirus-mediated RNA interference tools, and HCC cell lines infected with shHIF-1α coding virus were cultured under a hypoxia condition (1% O2) for 24 hours.", "output": {"entities": {"gene": [{"text": "HCC", "start": 98, "end": 101}], "disease": [{"text": "adenovirus", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Introduction of the ST7 cDNA into a prostate cancer-derived cell line abrogated in vivo tumorigenecity in nude mice.", "output": {"entities": {"gene": [{"text": "ST7", "start": 20, "end": 23}], "disease": [{"text": "prostate cancer", "start": 36, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates that in vitro characterization of missense variations in the HMBS gene can provide valuable information for the interpretation of clinical, biochemical and genetic data, for establishing a diagnosis of AIP.", "output": {"entities": {"gene": [{"text": "HMBS", "start": 85, "end": 89}], "disease": [{"text": "AIP", "start": 226, "end": 229}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HMBS", "start": 85, "end": 89}, "tail": {"text": "AIP", "start": 226, "end": 229}}]}}, "schema": []}
{"input": "FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.", "output": {"entities": {"gene": [{"text": "FAM83H", "start": 0, "end": 6}], "disease": [{"text": "hypocalcified amelogenesis imperfecta", "start": 53, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM83H", "start": 0, "end": 6}, "tail": {"text": "hypocalcified amelogenesis imperfecta", "start": 53, "end": 90}}]}}, "schema": []}
{"input": "VHL, involved in tumorigenesis of PGLs and clear cell renal cell carcinomas, may be an important player in the pathogenesis of sporadic HNPGLs via activation of an HIF-1α/miR-210 pHx pathway.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 34, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "One-way analysis of variance (ANOVA) was performed between each genetic marker and 24-h systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as two-way ANOVAs to test the interaction effect with job strain.", "output": {"entities": {"gene": [{"text": "DBP", "start": 148, "end": 151}], "disease": [{"text": "systolic blood pressure", "start": 88, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "A large family, St. Mark' s family 96, with a tendency to develop colonic polyps of mixed histological types is described.", "output": {"entities": {"gene": [{"text": "Mark' s", "start": 20, "end": 27}], "disease": [{"text": "colonic polyps", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "This study provides unequivocal evidence that a base pair change causing a Val30Met substitution at the junction of the first TM domain and the extracellular loop of PMP22 results in the HNPP phenotype.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 166, "end": 171}], "disease": [{"text": "HNPP", "start": 187, "end": 191}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 166, "end": 171}, "tail": {"text": "HNPP", "start": 187, "end": 191}}]}}, "schema": []}
{"input": "Genetic analysis of the DLGAP1 gene as a candidate gene for schizophrenia.", "output": {"entities": {"gene": [{"text": "DLGAP1", "start": 24, "end": 30}], "disease": [{"text": "schizophrenia", "start": 60, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DLGAP1", "start": 24, "end": 30}, "tail": {"text": "schizophrenia", "start": 60, "end": 73}}]}}, "schema": []}
{"input": "In amygdala, arginine vasopressin mRNA levels were unchanged after chronic \" binge \" cocaine, but were increased during acute cocaine withdrawal.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 13, "end": 33}], "disease": [{"text": "cocaine withdrawal", "start": 126, "end": 144}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "arginine vasopressin", "start": 13, "end": 33}, "tail": {"text": "cocaine withdrawal", "start": 126, "end": 144}}]}}, "schema": []}
{"input": "Cyclin-dependent kinase-like 5 (CDKL5) gene abnormalities cause an early-onset epileptic encephalopathy.", "output": {"entities": {"gene": [{"text": "CDKL5", "start": 32, "end": 37}], "disease": [{"text": "abnormalities", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines.", "output": {"entities": {"gene": [{"text": "DSG1", "start": 13, "end": 17}], "disease": [{"text": "allergy", "start": 100, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DSG1", "start": 13, "end": 17}, "tail": {"text": "allergy", "start": 100, "end": 107}}]}}, "schema": []}
{"input": "However, the C-allele carrier group had significantly higher mean body weight, body mass index, leptin levels, and higher indices of insulin resistance compared with women with GNAS1 TT-genotype.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 177, "end": 182}], "disease": [{"text": "body weight", "start": 66, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "To investigate the role of Ptp4a3 in malignancy, we used the most commonly studied murine colitis-associated colon cancer model.", "output": {"entities": {"gene": [{"text": "Ptp4a3", "start": 27, "end": 33}], "disease": [{"text": "colon cancer", "start": 109, "end": 121}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Ptp4a3", "start": 27, "end": 33}, "tail": {"text": "colon cancer", "start": 109, "end": 121}}]}}, "schema": []}
{"input": "Defects in GNPTG cause mucolipidosis type III gamma, which is characterized by missorting and cellular loss of lysosomal enzymes leading to lysosomal accumulation of storage material.", "output": {"entities": {"gene": [{"text": "GNPTG", "start": 11, "end": 16}], "disease": [{"text": "mucolipidosis type III gamma", "start": 23, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNPTG", "start": 11, "end": 16}, "tail": {"text": "mucolipidosis type III gamma", "start": 23, "end": 51}}]}}, "schema": []}
{"input": "The EVI1 gene encodes a zinc-finger, DNA-binding protein originally described as the transforming gene associated with a common ecotropic viral insertion site in myeloid leukemias.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 37, "end": 56}], "disease": [{"text": "myeloid leukemias", "start": 162, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Although transforming growth factor-beta (TGF-beta) is believed to stimulate intimal hyperplasia after arterial injury, its role in remodelling remains unclear.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 42, "end": 50}], "disease": [{"text": "arterial injury", "start": 103, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The MCD + HF diet further enhanced insulin resistance and led to rapid development of pre-cirrhosis in OLETF rats by increasing the triglyceride pool, activating stellate cells, and up-regulating gene expression for sterol regulatory element-binding protein-1c and fatty acid synthase in the liver.", "output": {"entities": {"gene": [{"text": "fatty acid synthase", "start": 265, "end": 284}], "disease": [{"text": "insulin resistance", "start": 35, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "To explore the association between the PTGES2 R298H SNP and body mass index (BMI).", "output": {"entities": {"gene": [{"text": "PTGES2", "start": 39, "end": 45}], "disease": [{"text": "body mass index", "start": 60, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In this study, the XRCC1 Arg194Trp, XRCC1 Arg280His, and XRCC1 Arg399Gln-polymorphisms, had no relevant modifying effect on lung cancer risk and cumulative smoking dose.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 19, "end": 24}], "disease": [{"text": "smoking", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In vivo, treatment with troglitazone before ischemia prevented induction of Egr-1 and its target genes such as interleukin-1beta, monocyte chemotactic protein-1, and macrophage inflammatory protein-2.", "output": {"entities": {"gene": [{"text": "Egr-1", "start": 76, "end": 81}], "disease": [{"text": "ischemia", "start": 44, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Egr-1", "start": 76, "end": 81}, "tail": {"text": "ischemia", "start": 44, "end": 52}}]}}, "schema": []}
{"input": "These observations and our overall refinement of point mutation distribution within the OA1 gene have important implications for the molecular diagnosis of OA1 and for the establishment of any mutation detection program for this disorder.", "output": {"entities": {"gene": [{"text": "OA1", "start": 88, "end": 91}], "disease": [{"text": "OA1", "start": 156, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OA1", "start": 88, "end": 91}, "tail": {"text": "OA1", "start": 156, "end": 159}}]}}, "schema": []}
{"input": "Kaplan‑Meier survival curves and the Cox regression model were applied to evaluate the clinical significance of the expression levels of CXCL14 in colorectal carcinoma compared with those in normal tissues.", "output": {"entities": {"gene": [{"text": "CXCL14", "start": 137, "end": 143}], "disease": [{"text": "regression", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "We performed the mutation analysis in seven probands from five unrelated LPI families and identified five novel SLC7A7 mutations (p. M50K, p. T188I, p. R333M, p. Y457X, and c. 499 +? _629-?).", "output": {"entities": {"gene": [{"text": "SLC7A7", "start": 112, "end": 118}], "disease": [{"text": "LPI", "start": 73, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC7A7", "start": 112, "end": 118}, "tail": {"text": "LPI", "start": 73, "end": 76}}]}}, "schema": []}
{"input": "Incontinentia pigmenti is an X-linked dominant or sporadic multisystemic disorder with involvement of skin, eyes and central nervous system which results from mutations in the gene for NF-kappaB essential modulator (NEMO).", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 185, "end": 194}], "disease": [{"text": "sporadic", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Apart from ethical considerations inherently linked to treating children, major obstacles for the treatment of LCA could be the putative developmental deficiencies in the visual cortex in persons blind from birth (amblyopia), the absence of sufficient numbers of viable photoreceptor or RPE cells in LCA patients, and the unknown and possibly toxic effects of overexpression of transduced genes.", "output": {"entities": {"gene": [{"text": "RPE", "start": 287, "end": 290}], "disease": [{"text": "amblyopia", "start": 214, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "The phenotype is associated with at least a ~ 0. 113 Mb critical region harboring three strong candidate genes probably associated with DD, ID, speech delay and other dysmorphic features: MAP2K2, ZBTB7A and PIAS4, an E3 ubiquitin ligase involved in the ubiquitin signaling pathways, which we hypothesize for the first time to be associated with head size in humans.", "output": {"entities": {"gene": [{"text": "PIAS4", "start": 207, "end": 212}], "disease": [{"text": "speech delay", "start": 144, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We now delineate the clinical characteristics of an HPS-4 patient homozygous for a novel HPS-4 mutation, P685delC.", "output": {"entities": {"gene": [{"text": "HPS-4", "start": 52, "end": 57}], "disease": [{"text": "HPS-4", "start": 89, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HPS-4", "start": 52, "end": 57}, "tail": {"text": "HPS-4", "start": 89, "end": 94}}]}}, "schema": []}
{"input": "In addition, NCOA3, MYC, EGFR, and RAB20 amplifications, as well as TP53 deletions correlated with increased DNA stem line values and/or aneuploidy in adenomas (P < 0. 05).", "output": {"entities": {"gene": [{"text": "RAB20", "start": 35, "end": 40}], "disease": [{"text": "aneuploidy", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 15, "end": 20}], "disease": [{"text": "atopy", "start": 105, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Gene ontology analysis further showed that the MYC-induced, altered gene expression was primarily associated with various cellular processes, such as metabolism, cell adhesion, growth and proliferation, cell cycle, inflammation and tumorigenesis.", "output": {"entities": {"gene": [{"text": "MYC", "start": 47, "end": 50}], "disease": [{"text": "inflammation", "start": 215, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations.", "output": {"entities": {"gene": [{"text": "STK32B", "start": 11, "end": 17}], "disease": [{"text": "cleft lip", "start": 60, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The majority of these mice displayed severe hypertrophy (heart-to-body weight ratios > 2-fold greater in the Rac1 mice) and died from overt heart failure between days 14 and 17.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 109, "end": 113}], "disease": [{"text": "hypertrophy", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Loss-of-function mutations in the WNT4 gene appear to cause developmental abnormalities of sexual differentiation in women and mice.", "output": {"entities": {"gene": [{"text": "WNT4 gene", "start": 34, "end": 43}], "disease": [{"text": "abnormalities", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Signaling via the G-protein-coupled beta-adrenergic receptors has been implicated in cardiac hypertrophy and heart failure, suggesting that PI3Kgamma might play a role in the pathogenesis of heart disease.", "output": {"entities": {"gene": [{"text": "PI3Kgamma", "start": 140, "end": 149}], "disease": [{"text": "cardiac hypertrophy", "start": 85, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PI3Kgamma", "start": 140, "end": 149}, "tail": {"text": "cardiac hypertrophy", "start": 85, "end": 104}}]}}, "schema": []}
{"input": "In addition, BS15 inhibited the insulin resistance; decreased the mRNA levels of acetyl-CoA carboxylase 1, fatty acid synthase, and peroxisome proliferator-activated receptor γ; and increased the expression of the fasting-induced adipose factor in livers.", "output": {"entities": {"gene": [{"text": "fatty acid synthase", "start": 107, "end": 126}], "disease": [{"text": "insulin resistance", "start": 32, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Finally, we found that siRNA-mediated silencing of ZNF396 gene inhibited the proliferation of TE354. T basal cell carcinoma cells.", "output": {"entities": {"gene": [{"text": "ZNF396 gene", "start": 51, "end": 62}], "disease": [{"text": "basal cell carcinoma", "start": 103, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations.", "output": {"entities": {"gene": [{"text": "TIE2", "start": 158, "end": 162}], "disease": [{"text": "VMCM", "start": 143, "end": 147}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIE2", "start": 158, "end": 162}, "tail": {"text": "VMCM", "start": 143, "end": 147}}]}}, "schema": []}
{"input": "Gene expression of endothelin-1 and endothelin receptor a on monocrotaline-induced pulmonary hypertension in rats after bosentan treatment.", "output": {"entities": {"gene": [{"text": "endothelin-1", "start": 19, "end": 31}], "disease": [{"text": "pulmonary hypertension", "start": 83, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "endothelin-1", "start": 19, "end": 31}, "tail": {"text": "pulmonary hypertension", "start": 83, "end": 105}}]}}, "schema": []}
{"input": "To corroborate these findings in vivo, neutrophil infiltration in self-limited peritonitis was reduced in human ALX/FPR2-overexpressing transgenic mice that was further limited to 50% by RvD1 treatment with as little as 10 ng of RvD1 per mouse.", "output": {"entities": {"gene": [{"text": "FPR2", "start": 116, "end": 120}], "disease": [{"text": "peritonitis", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "A review of the literature identified 177 unique LCA causing mutations in eight different genes: aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), crumbs homolog 1 (CRB1), cone-rod homeobox (CRX), guanylate cyclase 2D (GUCY2D), nephronophthisis 6 (NPHP6), retinol dehydrogenase 12 (RDH12), retinal pigment epithelium-specific protein 65 kDa (RPE65), and retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1).", "output": {"entities": {"gene": [{"text": "RPE65", "start": 354, "end": 359}], "disease": [{"text": "nephronophthisis", "start": 240, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "Selected mutant BRAF proteins promoted variable gain of function of the kinase, but appeared less activating compared to the recurrent cancer-associated p. Val600Glu mutant.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 16, "end": 20}], "disease": [{"text": "recurrent cancer", "start": 125, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "A metabolic switch from GLS2 to GLS1 was observed in a series of tissues representing progressive pathologic states mimicking HCC oncogenic transformation, including normal liver, fibrotic liver, dysplasia nodule, and HCC.", "output": {"entities": {"gene": [{"text": "GLS2", "start": 24, "end": 28}], "disease": [{"text": "nodule", "start": 206, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "These findings indicated that TRPV1 activation ameliorates high-fat diet-induced atherosclerosis.", "output": {"entities": {"gene": [{"text": "TRPV1", "start": 30, "end": 35}], "disease": [{"text": "atherosclerosis", "start": 81, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRPV1", "start": 30, "end": 35}, "tail": {"text": "atherosclerosis", "start": 81, "end": 96}}]}}, "schema": []}
{"input": "In addition, GG genotype of CNR1 was significantly correlated with elevated levels of body mass index, systolic blood pressure, homeostasis model assessment of insulin resistance, and C-reactive protein, as well as decreased levels of high-density lipoprotein cholesterol in patients with T2DM.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 184, "end": 202}], "disease": [{"text": "insulin resistance", "start": 160, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "[Relationship between pneumoconiosis and the polymorphisms of HLA-DRB1 *, DQB1 * genes].", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 62, "end": 70}], "disease": [{"text": "pneumoconiosis", "start": 22, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The results showed that TMP induced apoptosis and caused cell cycle arrest in Jurkat and SUP-B15 cells through the downregulation of GSK-3β, which may have further prevented the induced translocation of NF-κB and c-myc from the cytoplasm to the nucleus.", "output": {"entities": {"gene": [{"text": "TMP", "start": 24, "end": 27}], "disease": [{"text": "translocation", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The crucial role of the beta2-integrin subfamily in leukocyte emigration was established after leukocyte adhesion deficiency (LAD) I was discovered.", "output": {"entities": {"gene": [{"text": "beta2", "start": 24, "end": 29}], "disease": [{"text": "leukocyte adhesion deficiency", "start": 95, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Twelve normal skin specimens, 12 specimens of psoriasis, 21 specimens of bowenoid papulosis (BP), 16 specimens of Bowen' s disease (BD), 38 specimens of skin squamous cell carcinoma (SCC), and 11 specimens of basal cell carcinoma (BCC) were subjected to immunohistochemical staining for MCM5 and PCNA.", "output": {"entities": {"gene": [{"text": "MCM5", "start": 287, "end": 291}], "disease": [{"text": "psoriasis", "start": 46, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "GAS strains known to be highly pathogenic in mice and monkeys caused significantly lower survival and had significantly lower LD 50s in wax worms than GAS strains associated with attenuated virulence or asymptomatic carriage.", "output": {"entities": {"gene": [{"text": "GAS", "start": 0, "end": 3}], "disease": [{"text": "asymptomatic", "start": 203, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "This upregulation of CX3CR1 corresponded to a significant increase in migration and invasion of prostate cancer cells under hypoxic conditions, which was attenuated after knocking down CX3CR1 expression.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 21, "end": 27}], "disease": [{"text": "hypoxic", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Prevention of severe toxic liver injury and oxidative stress in MCP-1-deficient mice.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 64, "end": 69}], "disease": [{"text": "liver", "start": 27, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MCP-1", "start": 64, "end": 69}, "tail": {"text": "liver", "start": 27, "end": 32}}]}}, "schema": []}
{"input": "Multivariate analysis of ploidy results using paxillin and EZH2 expression as dependent variables revealed that aneuploid tumors were associated with disease stage and grade of differentiation, cerbB2 expression and EZH2 expression.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 59, "end": 63}], "disease": [{"text": "aneuploid", "start": 112, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, mutations in PTRF result in a novel phenotype that includes generalized lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis.", "output": {"entities": {"gene": [{"text": "PTRF", "start": 28, "end": 32}], "disease": [{"text": "generalized lipodystrophy", "start": 75, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTRF", "start": 28, "end": 32}, "tail": {"text": "generalized lipodystrophy", "start": 75, "end": 100}}]}}, "schema": []}
{"input": "First, we confirmed that marijuana smoke condensate (MSC) induces oxidative stress in BEAS-2B cells.", "output": {"entities": {"gene": [{"text": "MSC", "start": 53, "end": 56}], "disease": [{"text": "marijuana", "start": 25, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Among our SMA patients with a SMN1 homozygous deletion, we found a family with two patients: the son with SMAII possesses 3 SMN2 copies and the nearly asymptomatic father has a homozygous deletion of SMN1 exon 7 and carries 4 SMN2 copies.", "output": {"entities": {"gene": [{"text": "SMN2", "start": 124, "end": 128}], "disease": [{"text": "asymptomatic", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Early mortality and the retinoic acid syndrome in acute promyelocytic leukemia: impact of leukocytosis, low-dose chemotherapy, PMN/RAR-alpha isoform, and CD13 expression in patients treated with all-trans retinoic acid.", "output": {"entities": {"gene": [{"text": "RAR", "start": 131, "end": 134}], "disease": [{"text": "leukocytosis", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Evidence has been provided of enhanced epithelial transforming growth factor-beta (TGF-beta) immunoreactivity in allergic rhinitis, including correlation with intra-epithelial mast cell numbers, and the co-localisation of TGF-beta receptors to mast cells, suggesting that the epithelial expression of TGF-beta may represent an important biological process involved in either the recruitment or retention of mast cells within the epithelium in naturally occurring allergic rhinitis.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 83, "end": 91}], "disease": [{"text": "rhinitis", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, these results suggest that elevated expression of AEG-1 plays an important role in the aggressiveness and angiogenesis of cervical carcinoma and that AEG‑1 represents a novel and valuable predictive factor for the prognostic evaluation of cervical carcinoma patients.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 65, "end": 70}], "disease": [{"text": "aggressiveness", "start": 102, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We show here that ectopic overexpression of the E3 ubiquitin ligase Rad18 (a central regulator of TLS) induces DNA damage-independent mono-ubiquitination of proliferating cell nuclear antigen (PCNA) (a known Rad18 substrate) and FANCD2.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 48, "end": 67}], "disease": [{"text": "mono", "start": 134, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "By controlling gamma-TuRC localization, BRCA1 appropriately inhibits centrosome function, and loss of BRCA1 would result in centrosome hyperactivity, supernumerary centrosomes and, possibly, aneuploidy.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 40, "end": 45}], "disease": [{"text": "aneuploidy", "start": 191, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Intriguingly, in certain NE lung tumor cell lines, the levels of processed LC3 (LC3-II) were inversely correlated with AKT activity.", "output": {"entities": {"gene": [{"text": "LC3", "start": 75, "end": 78}], "disease": [{"text": "lung tumor", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Expression profiling of SSTR1-5 was performed on biopsies from 34 GISTs (16 gastric tumors, 15 small intestinal tumors, and three rectal tumors).", "output": {"entities": {"gene": [{"text": "SSTR1", "start": 24, "end": 29}], "disease": [{"text": "intestinal tumors", "start": 101, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "These findings identify PAR-2 as a novel upstream regulator of proinflammatory cytokine production in RA and indicate its potential as a novel therapeutic target in inflammatory arthritis.", "output": {"entities": {"gene": [{"text": "PAR", "start": 24, "end": 27}], "disease": [{"text": "inflammatory arthritis", "start": 165, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "This study aimed to detect the expression of newly discovered zinc finger transcriptional factor KLF6 and its splice variant KLF6 SV2 in primary hepatocarcinoma (PHC) tissues and hepatoma cell strains, and to evaluate their clinicopathologic relationship with PHC.", "output": {"entities": {"gene": [{"text": "SV2", "start": 130, "end": 133}], "disease": [{"text": "hepatocarcinoma", "start": 145, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, episodes of serum withdrawal, glucose deprivation or hypoxia aimed at inducing early oxidative stress triggered Bcl-2-overexpressing cells to preserve mitochondrial levels of COX Va while depressing COX Vb, whereas the reverse was observed in mock-transfected cells.", "output": {"entities": {"gene": [{"text": "COX", "start": 190, "end": 193}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "These findings correlated clinically to the significantly higher plasma/serum MMP-1 level in asthmatic patients.", "output": {"entities": {"gene": [{"text": "MMP-1", "start": 78, "end": 83}], "disease": [{"text": "asthmatic", "start": 93, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-1", "start": 78, "end": 83}, "tail": {"text": "asthmatic", "start": 93, "end": 102}}]}}, "schema": []}
{"input": "No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause.", "output": {"entities": {"gene": [{"text": "TITF1", "start": 90, "end": 95}], "disease": [{"text": "sporadic", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1130233 polymorphisms with cachexia as well as the correlation between cachexia and the candidate polymorphisms and overall survival were analyzed.", "output": {"entities": {"gene": [{"text": "SELP", "start": 19, "end": 23}], "disease": [{"text": "cachexia", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The DNMT1 increase and the GAD67 decrease in BA9 interneurons are significant features of SZ and bipolar disorder with psychosis.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 4, "end": 9}], "disease": [{"text": "bipolar disorder", "start": 97, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT1", "start": 4, "end": 9}, "tail": {"text": "bipolar disorder", "start": 97, "end": 113}}]}}, "schema": []}
{"input": "In osteoclast progenitor cells, JNK2 promotes differentiation, which may contribute to the progression of bone metastasis.", "output": {"entities": {"gene": [{"text": "JNK2", "start": 32, "end": 36}], "disease": [{"text": "bone metastasis", "start": 106, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In healthy adult men (age > or = 20 years, n = 677), we genotyped IL-6-572C > G and CRP SNPs (-717G > A, 1444C > T, 2147A > G) and measured anthropometric parameters, lipid profile, serum levels of CRP and IL-6 and insulin resistance.", "output": {"entities": {"gene": [{"text": "CRP", "start": 84, "end": 87}], "disease": [{"text": "insulin resistance", "start": 215, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.", "output": {"entities": {"gene": [{"text": "STS", "start": 40, "end": 43}], "disease": [{"text": "hepatic steatosis", "start": 284, "end": 301}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STS", "start": 40, "end": 43}, "tail": {"text": "hepatic steatosis", "start": 284, "end": 301}}]}}, "schema": []}
{"input": "We conducted a randomized crossover (five arms) double-blind placebo-controlled study in 10 healthy volunteers genotyped for CYP2D6.", "output": {"entities": {"gene": [{"text": "CYP2D6", "start": 125, "end": 131}], "disease": [{"text": "arms", "start": 42, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Changes in the length of a polymorphic trinucleotide (CAG) repeat in the androgen receptor (AR) gene, which may lead to altered transactivation of the AR gene, have been implicated to play a role in the pathogenesis of several forms of endocrine cancer and certain reproductive disorders.", "output": {"entities": {"gene": [{"text": "AR gene", "start": 151, "end": 158}], "disease": [{"text": "endocrine cancer", "start": 236, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Semiquantitative reverse transcriptase PCR analysis in 10 carious and 10 healthy pulpal tissue samples of the S100 family members S100A8, S100A9, S100A10, S100A12, and S100A13; the cytokines tumor necrosis factor alpha (TNF-alpha), interleukin-1beta (IL-1beta), IL-8, IL-6, and epithelial cell-derived neutrophil attractant 78 (ENA-78); and the structural protein collagen-1alpha indicated that all genes tested, with the exception of S100A10, were more abundantly expressed in carious teeth.", "output": {"entities": {"gene": [{"text": "S100A8", "start": 130, "end": 136}], "disease": [{"text": "carious teeth", "start": 478, "end": 491}]}, "relations": {}}, "schema": []}
{"input": "HMGB1-neutralizing antibody attenuated the development of CH-induced PH, as assessed by measurement of right ventricular systolic pressure, right ventricular hypertrophy, pulmonary vascular remodeling and endothelial activation and inflammation.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 0, "end": 5}], "disease": [{"text": "right ventricular hypertrophy", "start": 140, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In patients with HCC in NCL, HBV and HCV markers are rare (20%), and mild iron overload is frequent (54%).", "output": {"entities": {"gene": [{"text": "NCL", "start": 24, "end": 27}], "disease": [{"text": "iron overload", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 gene.", "output": {"entities": {"gene": [{"text": "EVA", "start": 121, "end": 124}], "disease": [{"text": "enlargement", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The secretion of IL-6 by BMSCs was completely inhibited by 10 (-9) mol/L PACAP, which also attenuated the phosphorylation of both p42/44 and p38 mitogen-activated protein kinases (MAPK) as well as nuclear factor-kappaB (NF-kappaB) activation in response to the adhesion of multiple myeloma cells to BMSCs, whereas the inhibition of p42/44 MAPK signaling attenuated PACAP action.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 220, "end": 229}], "disease": [{"text": "adhesion", "start": 261, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "To determine how extracellular signal-regulated kinases (ERK) 1/2 promote mammary tumorigenesis, we examined the real-time behavior of cells in an organotypic culture of the mammary glandular epithelium.", "output": {"entities": {"gene": [{"text": "ERK", "start": 57, "end": 60}], "disease": [{"text": "mammary tumorigenesis", "start": 74, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "We have studied the effect of genetic polymorphisms in the DNA repair genes hOGG1, XRCC1, XRCC3, ERCC2 and the MTHFR gene in the folate metabolism on the frequencies of cells with chromosomal aberrations (CA), chromosome-type aberrations (CSA), chromatid-type aberrations (CTA), chromatid breaks (CTB) and chromatid gaps (CTG) scored in peripheral blood lymphocytes from 651 Norwegian subjects of Caucasian descendant.", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 90, "end": 95}], "disease": [{"text": "chromosomal aberrations", "start": 180, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Rearrangements of the SOX3 locus were identified recently in three cases of human XX male sex reversal.", "output": {"entities": {"gene": [{"text": "SOX3", "start": 22, "end": 26}], "disease": [{"text": "sex reversal", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The carriage of IL-10-592 C (age and sex-adjusted odds ratio [OR]: 1. 851, 95% confidence interval [CI]: 1. 018-3. 380) and IL-10-819 C (adjusted OR: 1. 868, 95% CI: 1. 023-3. 411) allele were associated with an increased risk for gastric cancer development, not gastric ulcer and duodenal ulcer.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 16, "end": 21}], "disease": [{"text": "gastric ulcer", "start": 263, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "RhoA and Rho kinase contribute to pulmonary vasoconstriction and vascular remodeling in pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 9, "end": 19}], "disease": [{"text": "pulmonary hypertension", "start": 88, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "These data on human pancreatic and colon cancers, along with information in earlier studies on SCCHN, indicate that alterations in the OGF receptor are dependent on tumor type and that the integrity of the OGF-OGFr axis insofar as tumorigenesis needs to be evaluated for each type of neoplasm.", "output": {"entities": {"gene": [{"text": "OGFr", "start": 210, "end": 214}], "disease": [{"text": "tumorigenesis", "start": 231, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Similar to Abca4 (-/-) mice, Abca4 (PV/PV) mice showed substantial A2E and lipofuscin accumulation in their RPE cells but no retinal degeneration up to 12 months of age.", "output": {"entities": {"gene": [{"text": "RPE", "start": 108, "end": 111}], "disease": [{"text": "retinal degeneration", "start": 125, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We previously cloned the translocation breakpoint junctions present in the leukemic cells from three such patients and identified a gene, BCL3, whose transcription is increased as a result of the translocation.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 138, "end": 142}], "disease": [{"text": "translocation", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Heparanase and vascular endothelial growth factor expression is increased in hypoxia-induced retinal neovascularization.", "output": {"entities": {"gene": [{"text": "Heparanase", "start": 0, "end": 10}], "disease": [{"text": "retinal neovascularization", "start": 93, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Moreover, Wnt/β-catenin pathway represses NCAM expression in glioma cells, which depends on miR-30a-5p.", "output": {"entities": {"gene": [{"text": "NCAM", "start": 42, "end": 46}], "disease": [{"text": "glioma", "start": 61, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Here, using microarray, proteomics and Systems Biology modeling; we compare the global gene expression of CD30 (lo) and CD30 (hi) cells to identify key pathways of neoplastic transformation.", "output": {"entities": {"gene": [{"text": "CD30", "start": 106, "end": 110}], "disease": [{"text": "neoplastic transformation", "start": 164, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Thus, the alleles detected by this restriction fragment length polymorphism in the DRD1 gene are associated with EH, and they appear to influence the diastolic blood pressure of Japanese EH patients.", "output": {"entities": {"gene": [{"text": "DRD1 gene", "start": 83, "end": 92}], "disease": [{"text": "diastolic blood pressure", "start": 150, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We found that diet-induced insulin resistance promoted amyloidogenic beta-amyloid (Abeta) Abeta1-40 and Abeta1-42 peptide generation in the brain that corresponded with increased gamma-secretase activities and decreased insulin degrading enzyme (IDE) activities.", "output": {"entities": {"gene": [{"text": "IDE", "start": 246, "end": 249}], "disease": [{"text": "insulin resistance", "start": 27, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Analysis of associations between 5-HTT, 5-HTR2A, and GABRA6 gene polymorphisms and health-associated personality traits.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 42, "end": 47}], "disease": [{"text": "personality traits", "start": 101, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Among them, chronic inflammation, including chronic hepatitis and cirrhosis mainly caused by hepatitis B virus and/or hepatitis C virus infection, plays an important role in HCC development.", "output": {"entities": {"gene": [{"text": "HCC", "start": 174, "end": 177}], "disease": [{"text": "chronic hepatitis", "start": 44, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We also show that Nrf2 may reveal significant gene expression changes, suggesting that Nrf2 activation may ameliorate liver fibrosis.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 18, "end": 22}], "disease": [{"text": "liver fibrosis", "start": 118, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nrf2", "start": 18, "end": 22}, "tail": {"text": "liver fibrosis", "start": 118, "end": 132}}]}}, "schema": []}
{"input": "Increased expression of IL-4 via gene therapy may decrease RA-associated inflammation by reducing proinflammatory cytokines and PGE2.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 24, "end": 28}], "disease": [{"text": "inflammation", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Expression of STAT1, its target genes SOCS1, IRF1, CXCL9, CXCL10, CXCL11, IFIT1, IFITM1, MX1 and genes characteristic for immune cell infiltration (CD68, CD163, PD-L1, PD-L2, PD-1, CD45, IFN-γ, FOXP3) was determined by RT-PCR in two independent cohorts comprising 132 breast cancer patients.", "output": {"entities": {"gene": [{"text": "IFIT1", "start": 74, "end": 79}], "disease": [{"text": "breast cancer", "start": 268, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.", "output": {"entities": {"gene": [{"text": "OCT", "start": 0, "end": 3}], "disease": [{"text": "asymptomatic", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Membrane activation markers (CD25 +, CD28 +, CD45RO +, CD69 +, CD62L +, HLA-DR +), FoxP3 + and intracellular IFN-γ expression were evaluated on both CD4 + and CD8 + T-lymphocytes from asymptomatic carriers with PVL ≥ and < 1% of infected cells, using flow cytometry.", "output": {"entities": {"gene": [{"text": "CD69", "start": 55, "end": 59}], "disease": [{"text": "asymptomatic", "start": 184, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that HTRA2-regulated protein quality control in the intermembrane space of mitochondria is important for the maintenance of mitochondrial homeostasis, and loss of HTRA2 activity can lead to both neurodegeneration and aging.", "output": {"entities": {"gene": [{"text": "HTRA2", "start": 26, "end": 31}], "disease": [{"text": "neurodegeneration", "start": 216, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "The protease inhibitor Elafin prevents intestinal inflammation in mouse models of colitis and might be developed as a therapeutic agent for inflammatory bowel disease.", "output": {"entities": {"gene": [{"text": "Elafin", "start": 23, "end": 29}], "disease": [{"text": "inflammation", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "This was associated with a marked reduction in TGF-β1, interleukin (IL)-6, IL-23 and IL-17A both locally in skin plaque lesions and systemically in the plasma, resulting in inhibition of both the T helper (Th) 17 cell transcription factor RORγt and accumulation of CD4 (+) IL-17A (+) cells within the skin plaque lesions.", "output": {"entities": {"gene": [{"text": "IL-23", "start": 75, "end": 80}], "disease": [{"text": "skin plaque", "start": 108, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The progression of rat liver fibrosis induced by intraperitoneal administration of thioacetamide (TAA) was evaluated by immunocytochemistry using anti-alpha-smooth muscle actin (alpha-SMA), antiendothelin-converting enzyme (ECE)-1, and anti-monocyte chemotactic protein (MCP)-1 antibodies.", "output": {"entities": {"gene": [{"text": "MCP", "start": 271, "end": 274}], "disease": [{"text": "liver fibrosis", "start": 23, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "This explorative study characterizes degenerative aneurysmal disease general inflammatory conditions that are dominated by profound activation of the NF-kappaB and AP-1 pathways, hyperexpression of IL-6 and IL-8, and neutrophil involvement.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 207, "end": 211}], "disease": [{"text": "aneurysmal disease", "start": 50, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The cytotoxic effect of Aplidin was investigated on fresh leukaemia cells derived from children with B-cell-precursor (BCP) acute lymphoblastic leukaemia (ALL) by using stromal-layer culture system and on four cell lines, ALL-PO, Reh, ALL/MIK and TOM-1, derived from patients with ALL with different molecular genetic abnormalities.", "output": {"entities": {"gene": [{"text": "TOM", "start": 247, "end": 250}], "disease": [{"text": "leukaemia", "start": 58, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to determine the mutation status of KCNJ5 and seven additional candidate genes for tumorigenesis: YY1, FZD4, ARHGAP9, ZFP37, KDM5C, LRP1B, and PDE9A and, furthermore, the surgical outcome of PA patients who underwent surgery in Western Norway.", "output": {"entities": {"gene": [{"text": "LRP1B", "start": 150, "end": 155}], "disease": [{"text": "tumorigenesis", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The breakpoint on 6q13 was located within the COL12A1 gene, a collagen gene purportedly involved in another benign bone tumor, subungual exostosis.", "output": {"entities": {"gene": [{"text": "COL12A1 gene", "start": 46, "end": 58}], "disease": [{"text": "benign bone tumor", "start": 108, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "There was a significant interaction between birthweight and VDR gene in determining risk of osteophytosis in men (p for interaction = 0. 04).", "output": {"entities": {"gene": [{"text": "VDR gene", "start": 60, "end": 68}], "disease": [{"text": "birthweight", "start": 44, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that intrabone or periosteal inoculation of p53 (-/-) or p53 (-/-) RB (-/-) bone marrow-or adipose tissue-derived MSCs originated metastatic osteoblastic osteosarcoma (OS).", "output": {"entities": {"gene": [{"text": "p53", "start": 58, "end": 61}], "disease": [{"text": "osteoblastic osteosarcoma", "start": 155, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24. 2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature.", "output": {"entities": {"gene": [{"text": "SIN3A", "start": 148, "end": 153}], "disease": [{"text": "ASD", "start": 244, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIN3A", "start": 148, "end": 153}, "tail": {"text": "ASD", "start": 244, "end": 247}}]}}, "schema": []}
{"input": "The tumor suppressor gene mutated in multiple advanced cancers/phosphatase and tensin homologue (MMAC/PTEN) has been shown to inhibit cell migration, spreading, and focal adhesion.", "output": {"entities": {"gene": [{"text": "tensin", "start": 79, "end": 85}], "disease": [{"text": "cancers", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "These results suggest a role for the posterior hippocampus in the neuroadaptations that occur during prolonged withdrawal, and point to a signaling partner of GR, HSP90AA1, as a novel dysregulated target during cocaine withdrawal.", "output": {"entities": {"gene": [{"text": "HSP90AA1", "start": 163, "end": 171}], "disease": [{"text": "cocaine withdrawal", "start": 211, "end": 229}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSP90AA1", "start": 163, "end": 171}, "tail": {"text": "cocaine withdrawal", "start": 211, "end": 229}}]}}, "schema": []}
{"input": "Major differences between the normal control and the family with IH include: (1) higher calcemic response in the family with IH (0. 9 vs 0. 4 mg/dl); (2) a fall in carboxyl-terminal PTH and urinary cyclic AMP in the IH family in contrast to control subjects in whom there were no changes; (3) a rise in serum phosphorus in the IH family (0. 8 vs 0. 2 mg/dl, p less than 0. 05).", "output": {"entities": {"gene": [{"text": "PTH", "start": 182, "end": 185}], "disease": [{"text": "fall", "start": 156, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "A model incorporating gender, APOE epsilon 4 status and IGF-I levels predicted recovery or not from delirium in 76. 5% of cases, with a sensitivity 0. 77 and specificity 0. 75.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 56, "end": 61}], "disease": [{"text": "delirium", "start": 100, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-I", "start": 56, "end": 61}, "tail": {"text": "delirium", "start": 100, "end": 108}}]}}, "schema": []}
{"input": "Here, we show that in vitro SOD1 aggregation is a multistep reaction that minimally consists of dimer dissociation, metal loss from the monomers, and oligomerization of the apo-monomers: [reaction: see text], where D (holo), M (holo), M (apo), and A are the holo-dimer, holo-monomer, apo-monomer, and aggregate, respectively.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 28, "end": 32}], "disease": [{"text": "dissociation", "start": 102, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether KIR and HLA genes could influence the risk of HBV-associated HCC development, 144 HBV-infected patients with HCC and 189 well-matched HBV infectors with chronic hepatitis or cirrhosis as non-HCC controls were enrolled in this study.", "output": {"entities": {"gene": [{"text": "HCC", "start": 84, "end": 87}], "disease": [{"text": "chronic hepatitis", "start": 176, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.", "output": {"entities": {"gene": [{"text": "REPS2", "start": 33, "end": 38}], "disease": [{"text": "breast cancer", "start": 141, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "REPS2", "start": 33, "end": 38}, "tail": {"text": "breast cancer", "start": 141, "end": 154}}]}}, "schema": []}
{"input": "We conclude that the allele B (BB or Bb genotype) in vitamin D receptor gene is correlated with large amount albuminuria in the Han Chinese population with type 2 diabetes, and is probably a risk factor for early-onset diabetic nephropathy.", "output": {"entities": {"gene": [{"text": "vitamin D receptor", "start": 53, "end": 71}], "disease": [{"text": "albuminuria", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Beta2-adrenergic receptor genotype and survival among patients receiving beta-blocker therapy after an acute coronary syndrome.", "output": {"entities": {"gene": [{"text": "Beta2", "start": 0, "end": 5}], "disease": [{"text": "acute coronary syndrome", "start": 103, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Expression of plasma phospholipid transfer protein mRNA in normal and emphysematous lungs and regulation by hypoxia.", "output": {"entities": {"gene": [{"text": "phospholipid transfer protein", "start": 21, "end": 50}], "disease": [{"text": "hypoxia", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We found that the expression of the 13 genes were significantly (P < 0. 01) down-regulated in grade II, III, IV of astrocytoma compared to normal brain tissues, including ERCC1, ERCC2, ERCC3, ERCC4, MGMT, MLH1, MLH3, NTHL1, OGG1, RAD50, SMUG1, XRCC4 and XRCC5.", "output": {"entities": {"gene": [{"text": "SMUG1", "start": 237, "end": 242}], "disease": [{"text": "astrocytoma", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Restored expression of the MYO18B gene suppresses orthotopic growth and the production of bloody pleural effusion by human malignant pleural mesothelioma cells in SCID mice.", "output": {"entities": {"gene": [{"text": "MYO18B", "start": 27, "end": 33}], "disease": [{"text": "mesothelioma", "start": 141, "end": 153}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MYO18B", "start": 27, "end": 33}, "tail": {"text": "mesothelioma", "start": 141, "end": 153}}]}}, "schema": []}
{"input": "Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.", "output": {"entities": {"gene": [{"text": "ZNF141", "start": 59, "end": 65}], "disease": [{"text": "postaxial polydactyly type A", "start": 102, "end": 130}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZNF141", "start": 59, "end": 65}, "tail": {"text": "postaxial polydactyly type A", "start": 102, "end": 130}}]}}, "schema": []}
{"input": "Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17.", "output": {"entities": {"gene": [{"text": "tau", "start": 17, "end": 20}], "disease": [{"text": "frontotemporal dementia", "start": 41, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "tau", "start": 17, "end": 20}, "tail": {"text": "frontotemporal dementia", "start": 41, "end": 64}}]}}, "schema": []}
{"input": "Downregulation of RUNX3 and TES by hypermethylation in glioblastoma.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 18, "end": 23}], "disease": [{"text": "glioblastoma", "start": 55, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RUNX3", "start": 18, "end": 23}, "tail": {"text": "glioblastoma", "start": 55, "end": 67}}]}}, "schema": []}
{"input": "These findings suggest that germline p53 mutations are important in familial and, possibly sporadic, breast tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 37, "end": 40}], "disease": [{"text": "sporadic", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Gene polymorphisms ABO C > T (rs505922), F5 C > G (rs6427196), MTHFR C > T (rs1801133), and FGG C > T (rs6536024) were not associated with height, weight, or morbid obesity among European subjects.", "output": {"entities": {"gene": [{"text": "ABO", "start": 19, "end": 22}], "disease": [{"text": "morbid obesity", "start": 158, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "A proportion of extraskeletal myxoid chondrosarcomas (EMC) have been shown to have a characteristic translocation t (9; 22) (q22; q12) involving the EWS gene at 22q12 and the CHN orphan nuclear receptor gene at 9q22.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 149, "end": 157}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Subcutaneous tumor foci of the human HCC cell line, HuH7, established in athymic mice were directly transduced with a recombinant adenovirus (rAd) harboring an HSV-tk gene driven by a human alpha-fetoprotein promoter, followed by GCV administration.", "output": {"entities": {"gene": [{"text": "HCC", "start": 37, "end": 40}], "disease": [{"text": "adenovirus", "start": 130, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Overall, seven genes were consistently upregulated both in tissue samples and in cell cultures from patients with knee osteoarthritis (BCL9, FZD5, DVL2, EP300, FRZB, LRP5, and TCF7L1).", "output": {"entities": {"gene": [{"text": "EP300", "start": 153, "end": 158}], "disease": [{"text": "knee osteoarthritis", "start": 114, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Body composition (dual-energy x-ray absorptiometry), abdominal fat distribution (magnetic resonance imaging), liver fat (magnetic resonance spectroscopy), high sensitivity C-reactive protein, insulin sensitivity (euglycemic hyperinsulinemic clamp), and a panel of different markers of blood coagulation and fibrinolysis in the fasting state were measured.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 172, "end": 190}], "disease": [{"text": "insulin sensitivity", "start": 192, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "Enhanced expression of BCL2/adenovirus EIB 19-kDa-interacting protein 3 mRNA, a candidate for intrinsic depression-related factor, and effects of imipramine in the frontal cortex of stressed mice.", "output": {"entities": {"gene": [{"text": "protein 3", "start": 62, "end": 71}], "disease": [{"text": "depression", "start": 104, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein 3", "start": 62, "end": 71}, "tail": {"text": "depression", "start": 104, "end": 114}}]}}, "schema": []}
{"input": "To investigate the association between DAZ gene methylation patterns and spermatogenic failure, we performed an analysis of methylation patterns in 174 idiopathic infertile patients and 58 fertile controls using bisulfite-modified sequencing.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 39, "end": 42}], "disease": [{"text": "infertile", "start": 163, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In the pilocarpine model of temporal lobe epilepsy, mossy fibers coexpress the inhibitory transmitter neuropeptide Y (NPY) with glutamate.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 102, "end": 116}], "disease": [{"text": "temporal lobe epilepsy", "start": 28, "end": 50}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "neuropeptide Y", "start": 102, "end": 116}, "tail": {"text": "temporal lobe epilepsy", "start": 28, "end": 50}}]}}, "schema": []}
{"input": "We propose that the PIK3CB gene included in our patient' s chromosome 3q deletion may be the gene responsible for microcephaly and other patients with blepharophimosis-ptosis-epicanthus inversus syndrome because of a chromosome 3q deletion.", "output": {"entities": {"gene": [{"text": "PIK3CB gene", "start": 20, "end": 31}], "disease": [{"text": "epicanthus inversus", "start": 175, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined the expression of ZFX in HCC and its possible functional implications in liver tumorigenesis.", "output": {"entities": {"gene": [{"text": "ZFX", "start": 45, "end": 48}], "disease": [{"text": "tumorigenesis", "start": 106, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Predictors of efficacy were examined in multivariate regression models that included eight polymorphic variants in four candidate genes (four in RGS2, two in HTR2A, one in SLC6A2, and one in SLC6A4).", "output": {"entities": {"gene": [{"text": "SLC6A2", "start": 172, "end": 178}], "disease": [{"text": "regression", "start": 53, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "We detected several homozygous ROR2 mutations in our cohort of RRS patients that are located upstream from those previously found in BDB.", "output": {"entities": {"gene": [{"text": "ROR2", "start": 31, "end": 35}], "disease": [{"text": "RRS", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ROR2", "start": 31, "end": 35}, "tail": {"text": "RRS", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency..", "output": {"entities": {"gene": [{"text": "HLXB9", "start": 117, "end": 122}], "disease": [{"text": "trisomy 2p", "start": 94, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into the methylation silencing of the WNT pathway during colorectal carcinogenesis, we examined the aberrant methylation profile of four genes, APC, Axin1, Axin2, and GSK3β in an unselected series of 112 sporadic colorectal tumors by methylation specific PCR.", "output": {"entities": {"gene": [{"text": "Axin1", "start": 165, "end": 170}], "disease": [{"text": "sporadic", "start": 220, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "An interstitial deletion, independent from the translocation and flanked by VWF and KRAS2, was also detected on the der (12).", "output": {"entities": {"gene": [{"text": "VWF", "start": 76, "end": 79}], "disease": [{"text": "translocation", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Bone marrow cells from Mll5-deficient mice were defective in spleen colony-forming assays, and the mutant mice showed enhanced susceptibility to 5-fluorouracil-induced myelosuppression.", "output": {"entities": {"gene": [{"text": "Mll5", "start": 23, "end": 27}], "disease": [{"text": "myelosuppression", "start": 168, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "We report a pediatric case of B lymphoblastic leukemia (BLL) with t (12; 21) (p13; q22); TEL-AML1 (ETV6-RUNX1) showing erythrophagocytosis and thrombophagocytosis by leukemic blasts.", "output": {"entities": {"gene": [{"text": "RUNX1", "start": 104, "end": 109}], "disease": [{"text": "erythrophagocytosis", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We genotyped the TNF-308G/A polymorphism (rs1800629) by PCR-RFLP in 348 patients with SCH, 361 patients with BPAD and in 351 controls.", "output": {"entities": {"gene": [{"text": "TNF", "start": 17, "end": 20}], "disease": [{"text": "BPAD", "start": 109, "end": 113}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 17, "end": 20}, "tail": {"text": "BPAD", "start": 109, "end": 113}}]}}, "schema": []}
{"input": "Identification of the RET mutation in the Dutch population with hereditary C-cell carcinoma facilitates genetic testing for families or individuals at risk for MEN 2A, FMTC, and MEN 2B.", "output": {"entities": {"gene": [{"text": "RET", "start": 22, "end": 25}], "disease": [{"text": "FMTC", "start": 168, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 22, "end": 25}, "tail": {"text": "FMTC", "start": 168, "end": 172}}]}}, "schema": []}
{"input": "In our survey of breast cancer cells, we now demonstrate that exposure to hypoxic conditions increases WASF3 expression levels in MDA231, SKBR3 and MCF7 cells.", "output": {"entities": {"gene": [{"text": "WASF3", "start": 103, "end": 108}], "disease": [{"text": "hypoxic", "start": 74, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In 11 of 14 patients, there was a significant increase in sPLA2 mRNA levels in the adenoma over the normal tissue.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 58, "end": 63}], "disease": [{"text": "adenoma", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Similarly, in transient-transfection assays, both SV2-IFN and IE94-IFN gave only low basal mRNA synthesis, but superinfection with HSV again led to high-level accumulation of IFN mRNA.", "output": {"entities": {"gene": [{"text": "SV2", "start": 50, "end": 53}], "disease": [{"text": "superinfection", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839) is the predisposition to develop smooth muscle tumours of the skin and uterus and/or renal cancer and is associated with mutations in the fumarate hydratase gene (FH).", "output": {"entities": {"gene": [{"text": "fumarate hydratase", "start": 207, "end": 225}], "disease": [{"text": "Hereditary leiomyomatosis and renal cell cancer", "start": 0, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fumarate hydratase", "start": 207, "end": 225}, "tail": {"text": "Hereditary leiomyomatosis and renal cell cancer", "start": 0, "end": 47}}]}}, "schema": []}
{"input": "We show that 1, 25-dihydroxyvitamin D3 (1, 25 (OH) 2D3) and its non-hypercalcemic analog, EB1089, decrease PTHrP mRNA and cellular protein levels in the androgen-dependent human prostate cancer cell line LNCaP and its androgen-independent derivative, the C4-2 cell line.", "output": {"entities": {"gene": [{"text": "PTHrP", "start": 107, "end": 112}], "disease": [{"text": "prostate cancer", "start": 178, "end": 193}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTHrP", "start": 107, "end": 112}, "tail": {"text": "prostate cancer", "start": 178, "end": 193}}]}}, "schema": []}
{"input": "An essential role for stromal interaction molecule 1 in neointima formation following arterial injury.", "output": {"entities": {"gene": [{"text": "stromal interaction molecule 1", "start": 22, "end": 52}], "disease": [{"text": "neointima formation", "start": 56, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We show that inhibition of both PKR and ADAR1 by the addition of adenovirus-associated RNA stimulates replicon expression and reduces the amount of inosine recovered from RNA in replicon cells.", "output": {"entities": {"gene": [{"text": "PKR", "start": 32, "end": 35}], "disease": [{"text": "adenovirus", "start": 65, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis.", "output": {"entities": {"gene": [{"text": "Per1", "start": 15, "end": 19}], "disease": [{"text": "autistic disorder", "start": 35, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Per1", "start": 15, "end": 19}, "tail": {"text": "autistic disorder", "start": 35, "end": 52}}]}}, "schema": []}
{"input": "These experiments link specific induction of TGF-beta1 by a bacterial infection to an in vivo Th17 immune response and show that this cellular response is sufficient for protection against GAS.", "output": {"entities": {"gene": [{"text": "GAS", "start": 189, "end": 192}], "disease": [{"text": "bacterial infection", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Recent advances in cancer biology have revealed that many malignancies possess a hierarchal system, and leukemic stem cells (LSC) or leukemia-initiating cells (LIC) appear to be obligatory for disease progression.", "output": {"entities": {"gene": [{"text": "LSC", "start": 125, "end": 128}], "disease": [{"text": "malignancies", "start": 58, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Novel polymorphisms in the neuropeptide-Y Y5 receptor associated with obesity in Pima Indians.", "output": {"entities": {"gene": [{"text": "Y5 receptor", "start": 42, "end": 53}], "disease": [{"text": "obesity", "start": 70, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Y5 receptor", "start": 42, "end": 53}, "tail": {"text": "obesity", "start": 70, "end": 77}}]}}, "schema": []}
{"input": "To elucidate the influence of the alpha1-antichymotrypsin (ACT) polymorphism on Alzheimer-type neuropathological changes and the development of sporadic Alzheimer' s disease (AD), we studied the relationship between the ACT polymorphism and the severity of Alzheimer-type neuropathological changes in the brains from AD patients and nondemented subjects.", "output": {"entities": {"gene": [{"text": "ACT", "start": 59, "end": 62}], "disease": [{"text": "sporadic", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Administration of a PDGF-A antagonist greatly reduced bone resorption, osteomalacia, and bone marrow fibrosis in a rat model for hyperparathyroidism, suggesting that PDGF-A is a causative agent for this disease.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 20, "end": 26}], "disease": [{"text": "hyperparathyroidism", "start": 129, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that BAG1 plays a key role in affective resilience and in regulating recovery from both manic-like and depression-like behavioral impairments.", "output": {"entities": {"gene": [{"text": "BAG1", "start": 24, "end": 28}], "disease": [{"text": "depression", "start": 122, "end": 132}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAG1", "start": 24, "end": 28}, "tail": {"text": "depression", "start": 122, "end": 132}}]}}, "schema": []}
{"input": "We treated 32 patients with Ph1-negative chronic myeloproliferative disorders (CMD) with excessive thrombocytosis with Interferon alpha-2b (IFN alpha-2b): 26 had essential thrombocythaemia, ET (18 previously untreated, eight pretreated); one thrombocythaemia after treatment for Hodgkin' s disease (HD); two thrombocythaemia associated with non-Hodgkin' s lymphoma (NHL); three stage II idiopathic myelofibrosis (IM).", "output": {"entities": {"gene": [{"text": "Ph1", "start": 28, "end": 31}], "disease": [{"text": "idiopathic myelofibrosis", "start": 387, "end": 411}]}, "relations": {}}, "schema": []}
{"input": "Using the STAM NASH-HCC mouse model, we find that HGF-induced FRA1 activation is associated with the fibrosis-dependent development of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 20, "end": 23}], "disease": [{"text": "fibrosis", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that mutations in the beta-3-adrenergic receptor (beta 3AR) gene might result in the lipoatrophic phenotype by preventing triglyceride storage in adipocytes; thereby, resulting in secondary insulin resistance.", "output": {"entities": {"gene": [{"text": "beta-3-adrenergic receptor", "start": 38, "end": 64}], "disease": [{"text": "insulin resistance", "start": 206, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "While patients with partially controlled viremia and poor CD4 T cell reconstitution manifested poor proliferative responses to anti-CD3 or HIV gag antigen stimulation, proliferative responses to Cgamma chain utilizing cytokines IL-2, IL-7, and IL-15 were robust.", "output": {"entities": {"gene": [{"text": "CD4", "start": 58, "end": 61}], "disease": [{"text": "viremia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Several genes have been newly associated with gastric carcinogenesis, both through oncogenic activation (MYC, SEMA5A, BCL2L12, RBP2 and BUBR1) and tumor suppressor gene inactivation mechanisms (KLF6, RELN, PTCH1A, CLDN11, and SFRP5).", "output": {"entities": {"gene": [{"text": "BCL2L12", "start": 118, "end": 125}], "disease": [{"text": "carcinogenesis", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "NPY in a dose of 2 mg (470 pmol), but not 1 mg, inhibited some excitatory effects of picrotoxin, but did not change the epileptic symptoms.", "output": {"entities": {"gene": [{"text": "NPY", "start": 0, "end": 3}], "disease": [{"text": "epileptic", "start": 120, "end": 129}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPY", "start": 0, "end": 3}, "tail": {"text": "epileptic", "start": 120, "end": 129}}]}}, "schema": []}
{"input": "Clear cell sarcoma (CCS) harbors a pathognomonic chromosomal translocation fusing the Ewing' s sarcoma gene (EWS) to the CREB family transcription factor ATF1 and exhibits melanocytic features.", "output": {"entities": {"gene": [{"text": "EWS", "start": 109, "end": 112}], "disease": [{"text": "chromosomal translocation", "start": 49, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele.", "output": {"entities": {"gene": [{"text": "CSPP1", "start": 32, "end": 37}], "disease": [{"text": "Joubert syndrome", "start": 305, "end": 321}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSPP1", "start": 32, "end": 37}, "tail": {"text": "Joubert syndrome", "start": 305, "end": 321}}]}}, "schema": []}
{"input": "Higher nuclear SOX18 expression was associated with presence of residual disease following surgical treatment (p = 0. 0158) and advanced disease stage (p = 0. 0056).", "output": {"entities": {"gene": [{"text": "SOX18", "start": 15, "end": 20}], "disease": [{"text": "residual disease", "start": 64, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Additionally, pkr1-null mice showed diminished thermal hyperalgesia after acute inflammation elicited by mustard oil and reduced pain behavior after chronic inflammation produced by complete Freund' s adjuvant.", "output": {"entities": {"gene": [{"text": "pkr1", "start": 14, "end": 18}], "disease": [{"text": "thermal hyperalgesia", "start": 47, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pkr1", "start": 14, "end": 18}, "tail": {"text": "thermal hyperalgesia", "start": 47, "end": 67}}]}}, "schema": []}
{"input": "GM-CSF hypersensitivity of the 2-oncogene model (MN1/HOXA9) was lost in Stat5b (-/-) cells, and the LIC expansion potential was reduced by 86-and 28-fold in Stat5b (-/-) and Stat1 (-/-) cells, respectively.", "output": {"entities": {"gene": [{"text": "Stat1", "start": 174, "end": 179}], "disease": [{"text": "hypersensitivity", "start": 7, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Indeed, increased levels of HSF1 counteract the effects of aneuploidy on HSP90 expression and protein folding, identifying HSF1 overexpression as the first aneuploidy-tolerating mutation in human cells.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 28, "end": 32}], "disease": [{"text": "aneuploidy", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "CD56 +/CD4 + lymphomas and leukemias are morphologically, immunophenotypically, cytogenetically, and clinically diverse.", "output": {"entities": {"gene": [{"text": "CD4", "start": 7, "end": 10}], "disease": [{"text": "leukemias", "start": 27, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "BMC transplantation reduced post-infarction fibrosis, improved neovascularization, and increased proliferation, while all these effects in repairing the failing myocardium were eliminated by HMGB1-inhibition.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 191, "end": 196}], "disease": [{"text": "neovascularization", "start": 63, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Allelic deletions of the p53 gene previously were demonstrated by Southern hybridization to occur in high frequency in sporadic colon carcinomas and in a variety of other human tumors.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 25, "end": 33}], "disease": [{"text": "sporadic", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Persistently reduced CD4 (+) T-lymphocyte counts in the face of undetectable HIV viremia are seen in a sizable percentage of HIV-infected patients undergoing antiretroviral therapy (ART).", "output": {"entities": {"gene": [{"text": "CD4", "start": 21, "end": 24}], "disease": [{"text": "viremia", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "In our present study, reduced p21 and Gadd45a expressions and increased centrosomal abnormality (atopic and multiple centrosomes) were observed in both arsenite-treated H1355 and p53-inhibited BEAS-2B cells as compared with similarly treated BEAS-2B cells.", "output": {"entities": {"gene": [{"text": "Gadd45a", "start": 38, "end": 45}], "disease": [{"text": "atopic", "start": 97, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.", "output": {"entities": {"gene": [{"text": "C21orf59", "start": 70, "end": 78}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 109, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C21orf59", "start": 70, "end": 78}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 109, "end": 135}}]}}, "schema": []}
{"input": "TCV-116 abolished the upregulation of IGF-I gene and protein expression in the late phase in association with the regression of cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 38, "end": 43}], "disease": [{"text": "regression", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Gene mutations and polymorphisms of TP53 and FHIT in chronic esophagitis and esophageal carcinoma.", "output": {"entities": {"gene": [{"text": "FHIT", "start": 45, "end": 49}], "disease": [{"text": "chronic esophagitis", "start": 53, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrated that FSHD2 mutations only result in decreased ATP hydrolysis, whereas many BAMS mutations can result in elevated ATPase activity and decreased eye size in & lt; i & gt; Xenopus & lt;/i & gt; Interestingly, a mutation reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller & lt; i & gt; Xenopus & lt;/i & gt; eye size.", "output": {"entities": {"gene": [{"text": "FSHD2", "start": 29, "end": 34}], "disease": [{"text": "FSHD2", "start": 261, "end": 266}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FSHD2", "start": 29, "end": 34}, "tail": {"text": "FSHD2", "start": 261, "end": 266}}]}}, "schema": []}
{"input": "We describe a novel clinical phenotype of acral self-healing collodion baby caused by a new TGM1 mutation.", "output": {"entities": {"gene": [{"text": "TGM1", "start": 92, "end": 96}], "disease": [{"text": "acral self-healing collodion baby", "start": 42, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGM1", "start": 92, "end": 96}, "tail": {"text": "acral self-healing collodion baby", "start": 42, "end": 75}}]}}, "schema": []}
{"input": "Two patients with germline wild-type CYLD showed, however, a somatic mutation in the gene (1 duplication, 1 substitution mutation).", "output": {"entities": {"gene": [{"text": "CYLD", "start": 37, "end": 41}], "disease": [{"text": "somatic mutation", "start": 61, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Under similar irradiation conditions with a priming and challenging irradiation in wtp53 cells, induction of radioresistance and a depression of chromosomal aberrations were observed only in the absence of 5, 5'-(2, 5-Furanidiyl) bis-2-thiophenemethanol (RITA) or Nutlin-3 (p53-Hdm2 interaction inhibitors), aminoguanidine (an inducible nitric oxide synthase inhibitor), and c-PTIO (an NO radical scavenger).", "output": {"entities": {"gene": [{"text": "Hdm2", "start": 278, "end": 282}], "disease": [{"text": "chromosomal aberrations", "start": 145, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "This preliminary screening demonstrates that deletions of copies of DAZ genes may be often found in severely infertile men and it strengthens the role of this gene family in spermatogenesis.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 68, "end": 71}], "disease": [{"text": "infertile", "start": 109, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "LITAF is associated with obesity and insulin resistance, as well as inflammatory cytokine secretion.", "output": {"entities": {"gene": [{"text": "LITAF", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 37, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, ectopic LITAF expression in B-cell lymphoma cells enhanced autophagy responses to starvation, which were impaired upon LITAF silencing.", "output": {"entities": {"gene": [{"text": "LITAF", "start": 21, "end": 26}], "disease": [{"text": "starvation", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Microarray studies from lung homogenates of mice exposed to only 3h of hypoxia revealed endothelin-1 (ET-1) and connective tissue growth factor (CTGF) as the most upregulated genes, and the mitogen-activated protein kinase (MAPK) pathway as the most differentially regulated pathway.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 145, "end": 149}], "disease": [{"text": "hypoxia", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The study aim was to assess the relationship of passive and active smoking to breast cancer risk by N-acetyltransferase 2 (NAT2) phenotype, using a comprehensive assessment of both passive and active smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 123, "end": 127}], "disease": [{"text": "smoking", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Upregulation of the E3 ligase NEDD4-1 by oxidative stress degrades IGF-1 receptor protein in neurodegeneration.", "output": {"entities": {"gene": [{"text": "NEDD4-1", "start": 30, "end": 37}], "disease": [{"text": "neurodegeneration", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Western blotting and quantitative polymerase chain reaction (qPCR) were carried out to determine the expression levels of proteins related to adhesion and migration, such as matrix metalloproteinase-2 (MMP2), tissue inhibitors of metalloproteinase-2 (TIMP2), and epithelial cadherin (E-cadherin).", "output": {"entities": {"gene": [{"text": "MMP2", "start": 202, "end": 206}], "disease": [{"text": "adhesion", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Measurement of plasma HC and protein C in MPD may identify patients more likely to suffer arterial disease and splanchnic vein thrombosis and who may require plasma HC lowering in the former case.", "output": {"entities": {"gene": [{"text": "protein C", "start": 29, "end": 38}], "disease": [{"text": "splanchnic vein thrombosis", "start": 111, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Faciogenital dysplasia (FGDY; MIM 305400), or Aarskog syndrome, is an X-linked developmental disorder that adversely affects the formation of specific skeletal structures including elements of the face, the cervical vertebrae, and the distal extremities.", "output": {"entities": {"gene": [{"text": "MIM", "start": 30, "end": 33}], "disease": [{"text": "developmental disorder", "start": 79, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "To study these relationships in more detail, we examined whether BRCA2 germline mutations are associated with familial pancreatic cancer.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 65, "end": 70}], "disease": [{"text": "familial pancreatic cancer", "start": 110, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 65, "end": 70}, "tail": {"text": "familial pancreatic cancer", "start": 110, "end": 136}}]}}, "schema": []}
{"input": "Post-I/R myocardial infarction sizes were larger in SENP1 (+/-) mice.", "output": {"entities": {"gene": [{"text": "SENP1", "start": 52, "end": 57}], "disease": [{"text": "myocardial infarction", "start": 9, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Of interest, the I1e 113--& gt; Phe substitution occurred in only Caucasian MPS IVA patients and in none of the GALNS alleles of 20 Japanese patients.", "output": {"entities": {"gene": [{"text": "GALNS", "start": 112, "end": 117}], "disease": [{"text": "MPS IVA", "start": 76, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALNS", "start": 112, "end": 117}, "tail": {"text": "MPS IVA", "start": 76, "end": 83}}]}}, "schema": []}
{"input": "No major difference in K-ras and p53 abnormalities in sporadic and hereditary nonpolyposis colorectal adenomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 33, "end": 36}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).", "output": {"entities": {"gene": [{"text": "BMPER", "start": 38, "end": 43}], "disease": [{"text": "diaphanospondylodysostosis", "start": 56, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPER", "start": 38, "end": 43}, "tail": {"text": "diaphanospondylodysostosis", "start": 56, "end": 82}}]}}, "schema": []}
{"input": "Lesions of the adrenal associated with AICS, independently of their GNAS, PRKAR1A, PDE11A, and PDE8B mutation status, have functional abnormalities of cAMP signaling.", "output": {"entities": {"gene": [{"text": "PDE11A", "start": 83, "end": 89}], "disease": [{"text": "abnormalities", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Ncan (-/-) mice were hyperactive and showed more frequent risk-taking and repetitive behaviors, less depression-like conduct, impaired prepulse inhibition, amphetamine hypersensitivity, and increased saccharin preference.", "output": {"entities": {"gene": [{"text": "Ncan", "start": 0, "end": 4}], "disease": [{"text": "depression", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, using FISH to identify MAML2 rearrangement is a valuable diagnostic tool in the evaluation of thymic malignancies, specifically, distinguishing TMEC from squamous cell carcinoma and adenosquamous carcinoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 21, "end": 25}], "disease": [{"text": "squamous cell carcinoma", "start": 169, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "In the clinical samples of meningioma, the levels of cathepsins B and L, stefin B, and cystatin C were highest in the tumors of higher histological grades, whereas stefin A and progesterone receptor were the only markers that were significantly increased and decreased, respectively, in WHO Grade III lesions.", "output": {"entities": {"gene": [{"text": "progesterone receptor", "start": 177, "end": 198}], "disease": [{"text": "meningioma", "start": 27, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "progesterone receptor", "start": 177, "end": 198}, "tail": {"text": "meningioma", "start": 27, "end": 37}}]}}, "schema": []}
{"input": "A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.", "output": {"entities": {"gene": [{"text": "miR-802", "start": 74, "end": 81}], "disease": [{"text": "down syndrome", "start": 40, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-802", "start": 74, "end": 81}, "tail": {"text": "down syndrome", "start": 40, "end": 53}}]}}, "schema": []}
{"input": "Cyr61, a member of the CCN (CTGF/Cyr61/NOV) family of growth regulators, is a secreted cysteine-rich proangiogenic factor that has been implicated in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 150, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that the expression levels of IF1 protein and mRNA in gastric cancer tissues were significantly higher than those in matched adjacent nontumor tissues.", "output": {"entities": {"gene": [{"text": "IF1", "start": 54, "end": 57}], "disease": [{"text": "gastric cancer", "start": 78, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.", "output": {"entities": {"gene": [{"text": "GABRB1", "start": 68, "end": 74}], "disease": [{"text": "autism", "start": 100, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRB1", "start": 68, "end": 74}, "tail": {"text": "autism", "start": 100, "end": 106}}]}}, "schema": []}
{"input": "Somatic mutations, allelic loss and hypermethylation of the ATBF1 gene were analysed in 76 sporadic HCCs.", "output": {"entities": {"gene": [{"text": "ATBF1", "start": 60, "end": 65}], "disease": [{"text": "sporadic", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "To investigate this phenotypic heterogeneity, exonic point mutations in the URO-synthase gene were identified in unrelated CEP patients.", "output": {"entities": {"gene": [{"text": "URO-synthase", "start": 76, "end": 88}], "disease": [{"text": "CEP", "start": 123, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "URO-synthase", "start": 76, "end": 88}, "tail": {"text": "CEP", "start": 123, "end": 126}}]}}, "schema": []}
{"input": "This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier' s disease, provide further evidence of the critical role of Ca (2 +) signaling in maintaining epidermal integrity.", "output": {"entities": {"gene": [{"text": "ATP2C1", "start": 40, "end": 46}], "disease": [{"text": "HHD", "start": 53, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2C1", "start": 40, "end": 46}, "tail": {"text": "HHD", "start": 53, "end": 56}}]}}, "schema": []}
{"input": "Ethnic divergence and linkage disequilibrium of novel SNPs in the human NLI-IF gene: evidence of human origin and lack of association with tuberculosis susceptibility.", "output": {"entities": {"gene": [{"text": "NLI", "start": 72, "end": 75}], "disease": [{"text": "tuberculosis", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "These findings reveal a calcium-and cAMP-PKA-independent signaling cascade and suggest a role for JAK2-STAT3 transduction in & #945; 4 & #946; 2-mediated attenuation of LPS-induced inflammation.", "output": {"entities": {"gene": [{"text": "STAT3", "start": 103, "end": 108}], "disease": [{"text": "inflammation", "start": 181, "end": 193}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STAT3", "start": 103, "end": 108}, "tail": {"text": "inflammation", "start": 181, "end": 193}}]}}, "schema": []}
{"input": "Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder.", "output": {"entities": {"gene": [{"text": "DRD4", "start": 15, "end": 19}], "disease": [{"text": "separation anxiety disorder", "start": 81, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRD4", "start": 15, "end": 19}, "tail": {"text": "separation anxiety disorder", "start": 81, "end": 108}}]}}, "schema": []}
{"input": "The demonstration that IFN-γ and IL-13 both significantly reduce ciliated cell differentiation and CBF in CRSwNP patients, and IL-13 additionally induces significant goblet cell hyperplasia and MUC5AC mucin expression, as well as IL-17 significantly increases MUC5B mucin expression, suggests that these inflammatory cytokines may be potential therapeutic targets in the management of CRSwNP.", "output": {"entities": {"gene": [{"text": "IFN", "start": 23, "end": 26}], "disease": [{"text": "hyperplasia", "start": 178, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the cellular accumulation of p53 protein caused by over-expression of SUMO-1 may be involved in tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "SUMO-1", "start": 97, "end": 103}], "disease": [{"text": "aggressiveness", "start": 129, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We concluded that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe.", "output": {"entities": {"gene": [{"text": "FGGY", "start": 46, "end": 50}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Lactating rats on days 11-12 of lactation had significantly greater number and mean staining intensity of orexin-A immunoreactive neurones, prepro-orexin mRNA expression food intake and body weight than nonlactating postpartum rats.", "output": {"entities": {"gene": [{"text": "prepro-orexin", "start": 140, "end": 153}], "disease": [{"text": "body weight", "start": 186, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Treatment of HCMEC with IL-18 increases 1) NF-kappaB DNA binding activity; 2) induces kappaB-driven luciferase activity; 3) induces IL-1beta and TNF-alpha expression via NF-kappaB activation; 4) inhibits antiapoptotic Bcl-2 and Bcl-X (L); 5) up-regulates proapoptotic Fas, Fas-L, and Bcl-X (S) expression; 6) induces fas and Fas-L promoter activities via NF-kappaB activation; 7) activates caspases-8,-3,-9, and BID; 8) induces cytochrome c release into the cytoplasm; 9) inhibits FLIP; and 10) induces HCME cell death by apoptosis as seen by increased annexin V staining and increased levels of mono-and oligonucleosomal fragmented DNA.", "output": {"entities": {"gene": [{"text": "IL-18", "start": 24, "end": 29}], "disease": [{"text": "mono", "start": 596, "end": 600}]}, "relations": {}}, "schema": []}
{"input": "To investigate toll-like receptor 2 (TLR2)-196 to-174 del, and TLR4 (+ 896A/G rs4986790 and + 1196C/T rs4986791) polymorphisms at risk of chronic gastritis and gastric cancer in a Brazilian population and association of gastric lesions with risk factors such as smoking, alcohol intake and Helicobacter pylori infection.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 63, "end": 67}], "disease": [{"text": "smoking", "start": 262, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Autopsy and postmortem examination case study on genetic risk factors for cardiac death: polymorphisms of endothelial nitric oxide synthase gene Glu298Asp variant and T-786C mutation, human paraoxonase 1 (PON1) gene and alpha2beta-adrenergic receptor gene.", "output": {"entities": {"gene": [{"text": "PON1", "start": 205, "end": 209}], "disease": [{"text": "cardiac death", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our data do not support the hypothesis that NOS3 is a genetic risk factor for stroke.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 44, "end": 48}], "disease": [{"text": "stroke", "start": 78, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "p53 gene mutations were detected in 42 of 86 sporadic ovarian cancers, compared with 13 of 15 cancers with somatic BRCA1 mutations (P = 0. 007) and 16 of 20 cancers with germ-line BRCA1 mutations (P = 0. 01).", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 0, "end": 8}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "From a recent vascular transgene-assisted zebrafish forward genetic screen, we have identified a ubiad1 mutant, reddish/reh, which exhibits cardiac edema as well as cranial hemorrhages and vascular degeneration owing to defects in endothelial cell survival.", "output": {"entities": {"gene": [{"text": "ubiad1", "start": 97, "end": 103}], "disease": [{"text": "cardiac edema", "start": 140, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ubiad1", "start": 97, "end": 103}, "tail": {"text": "cardiac edema", "start": 140, "end": 153}}]}}, "schema": []}
{"input": "In summary, LRRC4/NGL-2 is a critical gene in the normal development and tumorigenesis of the nervous system.", "output": {"entities": {"gene": [{"text": "NGL", "start": 18, "end": 21}], "disease": [{"text": "nervous system", "start": 94, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Similar studies with somatic cell mutants deficient in some component of cyclic AMP action or metabolism indicated that the depression in purine synthetic rates required G1 arrest and did not result from cell death.", "output": {"entities": {"gene": [{"text": "AMP", "start": 80, "end": 83}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AMP", "start": 80, "end": 83}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "Dimer dissociation is the first step in SOD1 aggregation, and studies suggest nearly every amino acid residue in SOD1 is dynamically connected to the dimer interface.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 40, "end": 44}], "disease": [{"text": "dissociation", "start": 6, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Intron 7 of EWSR1, the most common site of translocation, was also sequenced in all subjects.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 12, "end": 17}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "We also found that males with intellectual disability in another reported family with an NSDHL mutation (c. 1098 dup [p. Arg367SerfsX33]) have CKS.", "output": {"entities": {"gene": [{"text": "NSDHL", "start": 89, "end": 94}], "disease": [{"text": "CKS", "start": 143, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NSDHL", "start": 89, "end": 94}, "tail": {"text": "CKS", "start": 143, "end": 146}}]}}, "schema": []}
{"input": "Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.", "output": {"entities": {"gene": [{"text": "SAR1B", "start": 28, "end": 33}], "disease": [{"text": "chylomicron retention disease", "start": 57, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SAR1B", "start": 28, "end": 33}, "tail": {"text": "chylomicron retention disease", "start": 57, "end": 86}}]}}, "schema": []}
{"input": "Spirometric data revealed that% FEV1 and% FEF75 were significantly different among the 3 groups of IL-13 genotypes, whereas no significant differences were observed in therapeutic steps, atopic status, house dust mite sensitization, or serum IgE concentration.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 99, "end": 104}], "disease": [{"text": "atopic", "start": 187, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We examined the impact of the PC-1 K121Q variant on the rate of decline of the glomerular filtration rate (GFR) by creatinine clearance derived from the Cockroft-Gault formula in 77 type 1 diabetic patients with albuminuria who were followed for an average of 6. 5 years (range 2. 5-15).", "output": {"entities": {"gene": [{"text": "GFR", "start": 107, "end": 110}], "disease": [{"text": "albuminuria", "start": 212, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that exposure to DAC triggers senescence in chronic leukemia cell lines as evidenced by increased senescence-associated β-galactosidase activity and lysosomal mass, accompanied by an up-regulation of cell cycle-related genes.", "output": {"entities": {"gene": [{"text": "DAC", "start": 33, "end": 36}], "disease": [{"text": "chronic leukemia", "start": 60, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "This study examined the effect of HDAC inhibition on renal fibrosis induced by diabetes or transforming growth factor (TGF)-beta1 and determined the role of reactive oxygen species (ROS) as mediators of HDAC activation.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 34, "end": 38}], "disease": [{"text": "renal fibrosis", "start": 53, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "However, the specific p53 mutations in the BRCA1 mutant cancers were no more unique to this cohort than the p53 mutations of the sporadic cancers.", "output": {"entities": {"gene": [{"text": "p53", "start": 22, "end": 25}], "disease": [{"text": "sporadic", "start": 129, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Similarly, NET-KO mice displayed higher resistance to convulsions engendered by kainic acid.", "output": {"entities": {"gene": [{"text": "NET", "start": 11, "end": 14}], "disease": [{"text": "convulsions", "start": 54, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NET", "start": 11, "end": 14}, "tail": {"text": "convulsions", "start": 54, "end": 65}}]}}, "schema": []}
{"input": "Various cellular processes including cell growth, proliferation, migration and adhesion are regulated by activation of the PI3K/AKT signaling pathway, and nucleus pulposus cells are known to strongly express the phosphorylated survival protein AKT.", "output": {"entities": {"gene": [{"text": "AKT", "start": 128, "end": 131}], "disease": [{"text": "adhesion", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Fifty-two of 55 Chinese subjects with deafness accompanied by enlargement of the vestibular aqueduct (EVA) exhibited at least one mutant SLC26A4 allele, whereas SLC26A4 mutations were found in only 2 of 116 deaf Chinese patients without EVA.", "output": {"entities": {"gene": [{"text": "EVA", "start": 102, "end": 105}], "disease": [{"text": "enlargement", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The rationale of this array-CGH study was to map and size 22q deletions around the NF2 gene in sporadic schwannoma using a reliable method with maximal resolution.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 83, "end": 91}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have genotyped 6 uncoupling protein 3 (UCP-3) polymorphisms (-55C/T, Int2-143G/C, Tyr99Tyr, Int3-47G/A, Int4-498C/T, and Tyr210Tyr) among 214 overweight Korean female subjects recruited from an obesity clinic.", "output": {"entities": {"gene": [{"text": "uncoupling protein 3", "start": 35, "end": 55}], "disease": [{"text": "overweight", "start": 160, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "While invasion of U-NB1 cells was inhibited by blocking antibodies against CD57, neither invasion of SK-N-BE (2)-C cells nor adhesion of U-NB1 and SK-N-BE (2)-C cells was attenuated.", "output": {"entities": {"gene": [{"text": "NB1", "start": 20, "end": 23}], "disease": [{"text": "adhesion", "start": 125, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The APOA1-75 G/A polymorphism was significantly associated with gallstone disease.", "output": {"entities": {"gene": [{"text": "APOA1", "start": 4, "end": 9}], "disease": [{"text": "gallstone disease", "start": 64, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "DNA microarrays revealed that netrin and DCC had common and divergent impacts on gene expression linked to cell cycle, survival, surface signaling and adhesion.", "output": {"entities": {"gene": [{"text": "DCC", "start": 41, "end": 44}], "disease": [{"text": "adhesion", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In this study, we showed that the 15-PGDH-derived 15-keto-PGE2 is an endogenous peroxisome proliferator-activated receptor-γ (PPAR-γ) ligand that causes PPAR-γ dissociation from Smad2/3, allowing Smad2/3 association with the TGF-β receptor I and Smad anchor for receptor activation and subsequent Smad2/3 phosphorylation and transcription activation in human cholangiocarcinoma cells.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor-γ", "start": 80, "end": 124}], "disease": [{"text": "dissociation", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Quantitative real-time PCR was performed for CCND2, PLAB, PCSK2, HGD1, TFF3, B4GALT, LGALS3, ETS1, ADM3, and TG in 150 thyroid specimens, including 52 benign thyroid nodules (28 follicular adenoma and 24 adenomatous nodules), 52 corresponding normal thyroid tissues, 20 follicular carcinomas, 20 papillary carcinomas, and six undifferentiated carcinomas.", "output": {"entities": {"gene": [{"text": "ETS1", "start": 93, "end": 97}], "disease": [{"text": "follicular adenoma", "start": 178, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.", "output": {"entities": {"gene": [{"text": "GLI3", "start": 158, "end": 162}], "disease": [{"text": "Greig cephalopolysyndactyly syndrome", "start": 22, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLI3", "start": 158, "end": 162}, "tail": {"text": "Greig cephalopolysyndactyly syndrome", "start": 22, "end": 58}}]}}, "schema": []}
{"input": "Thus, a potential therapeutic role for CCK-A antagonists in the treatment of ethanol abuse and for CCK-B antagonists in the treatment of cocaine abuse is proposed.", "output": {"entities": {"gene": [{"text": "CCK-B", "start": 99, "end": 104}], "disease": [{"text": "cocaine abuse", "start": 137, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCK-B", "start": 99, "end": 104}, "tail": {"text": "cocaine abuse", "start": 137, "end": 150}}]}}, "schema": []}
{"input": "We demonstrate that overexpression of GLI2-β isoform, which lacks the N-terminal repressor domain (GLI2ΔN) in human keratinocytes is sufficient to induce numerical and structural chromosomal aberrations, including tetraploidy/aneuploidy and chromosomal translocations.", "output": {"entities": {"gene": [{"text": "GLI2", "start": 38, "end": 42}], "disease": [{"text": "aneuploidy", "start": 226, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "In AML, TET2 (del) occurred in CD34-positive hematopoietic precursors and preceded established genomic abnormalities, such as 5q-and-7/7q-, which were the most frequent associated changes (Fisher' s exact test P = 0. 000).", "output": {"entities": {"gene": [{"text": "TET2", "start": 8, "end": 12}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of NDRG2 through nuclear factor-kappa B is required for Leydig cell apoptosis in both human and murine infertile testes.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 17, "end": 22}], "disease": [{"text": "infertile", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3. 3%.", "output": {"entities": {"gene": [{"text": "CCDC141", "start": 126, "end": 133}], "disease": [{"text": "KS", "start": 91, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC141", "start": 126, "end": 133}, "tail": {"text": "KS", "start": 91, "end": 93}}]}}, "schema": []}
{"input": "Because ER-α gene polymorphisms may exert different effects in childhood, in the present study we analyzed associations between the IVS1-397T > C polymorphism and indicators of inflammatory response as well as late complications in boys with type 1 diabetes mellitus (DM1).", "output": {"entities": {"gene": [{"text": "α gene", "start": 11, "end": 17}], "disease": [{"text": "type 1 diabetes mellitus", "start": 242, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "Although hepatocytes and hepatic stellate cells (HSCs) showed respectively weak and intense NGF immunostaining in the background livers of patients suffering from liver cirrhosis (LC) or chronic hepatitis (CH), intense staining was demonstrated in HCC cells of 33 of 54 (61. 1%) tumors.", "output": {"entities": {"gene": [{"text": "HCC", "start": 248, "end": 251}], "disease": [{"text": "chronic hepatitis", "start": 187, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "In a 4-day double-blind, randomized, placebo-controlled crossover study, we administered 80 mg daily dose of transdermal-T gel (TG) and evaluated endothelial variations with Endopat2000 (reactive hyperemia index, RHI and the augmentation index, AI); also, CAG repeat polymorphism in exon 1 of the androgen receptor gene was investigated.", "output": {"entities": {"gene": [{"text": "androgen receptor gene", "start": 297, "end": 319}], "disease": [{"text": "reactive hyperemia", "start": 187, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Within the last two years, genome-wide association (GWA) analyses have revealed a number of novel low-risk susceptibility variants for Parkinson' s disease, among them HLA-DRB5, BST1, ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R) and have confirmed LINGO1 as risk factor for essential tremor.", "output": {"entities": {"gene": [{"text": "LAMP3", "start": 204, "end": 209}], "disease": [{"text": "essential tremor", "start": 281, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "mRNA isolated from immunomagnetically enriched CTCs was subjected to multiplex PCR for KRT19 (keratin 19; also known as CK19), ERBB2 [v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian); also known as HER2], SCGB2A2 (secretoglobin, family 2A, member 2; also known as MGB1, mammaglobin A), MAGEA3 (melanoma antigen family A, 3), TWIST-1 [twist homolog 1 (Drosophila)], and HMBS (hydroxymethylbilane synthase; also known as PBGD).", "output": {"entities": {"gene": [{"text": "PBGD", "start": 481, "end": 485}], "disease": [{"text": "melanoma", "start": 356, "end": 364}]}, "relations": {}}, "schema": []}
{"input": "The contribution of AQP7 to these abnormalities in humans is unknown.", "output": {"entities": {"gene": [{"text": "AQP7", "start": 20, "end": 24}], "disease": [{"text": "abnormalities", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, although we could not detect strong genetic evidence for association of common variants in MAGI2 and increased schizophrenia risk in a Japanese population, these SNPs may increase risk of cognitive impairment in schizophrenic patients.", "output": {"entities": {"gene": [{"text": "MAGI2", "start": 106, "end": 111}], "disease": [{"text": "schizophrenia", "start": 126, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAGI2", "start": 106, "end": 111}, "tail": {"text": "schizophrenia", "start": 126, "end": 139}}]}}, "schema": []}
{"input": "This study shows that elevated expression of Ki-67 is associated both with aggressive prostate cancers and with high Gleason score irrespective of whether their occurrence is against a background of BRCA1 or BRCA2 mutations or as sporadic disease.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 208, "end": 213}], "disease": [{"text": "sporadic", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "The CHK2 gene, whose product is a checkpoint kinase that plays a central role in DNA damage response and acts upstream of TP53, has been found to be mutated in a subset of Li-Fraumeni syndrome without mutations of TP53 and in some other sporadic human tumors, earmarking this serine/threonine kinase as a candidate tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "TP53", "start": 122, "end": 126}], "disease": [{"text": "sporadic", "start": 237, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Nuclear p53 protein was observed in 16% of the 31 in situ carcinomas, 22% of the 172 sporadic carcinomas, 34% of the 50 tumors from patients with familial breast cancer, 52% of the 23 tumors from patients with the familial breast and ovarian cancer syndrome, and all three tumors from two patients with the Li-Fraumeni syndrome.", "output": {"entities": {"gene": [{"text": "Li-Fraumeni syndrome", "start": 307, "end": 327}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We also found that CD47 activated the inflammatory genes IL-6, IL-7 and MCP-1 by a NF-κB-dependent mechanism in human astrocytoma but not in normal astrocytes.", "output": {"entities": {"gene": [{"text": "IL-7", "start": 63, "end": 67}], "disease": [{"text": "astrocytoma", "start": 118, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Frequencies of-2548G > A LEP (rs7799039), Q223R (rs1137101) and K656N (rs8129183) LEPR, and-11377C > G (rs266729) and-11426A > G (rs16861194) ADIPOQ polymorphisms were analyzed by restriction fragment length polymorphism in 101 obese (standard deviation score [SDS]-body mass index [BMI] > 2) and 67 normal-weight (SDS-BMI <-1 + 1 >) children.", "output": {"entities": {"gene": [{"text": "LEP", "start": 25, "end": 28}], "disease": [{"text": "weight", "start": 307, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that the Ang/Tie-2 system is involved in the growth and development of metastases of GEP-NETs, and that favors the recruitment of Tie-2 (+) monocytes to the tumor site, where they can promote inflammation and angiogenesis.", "output": {"entities": {"gene": [{"text": "Tie-2", "start": 30, "end": 35}], "disease": [{"text": "inflammation", "start": 209, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "The SUFU mutations were identified in two of the 16 individuals with desmoplastic medulloblastomas.", "output": {"entities": {"gene": [{"text": "SUFU", "start": 4, "end": 8}], "disease": [{"text": "desmoplastic medulloblastomas", "start": 69, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SUFU", "start": 4, "end": 8}, "tail": {"text": "desmoplastic medulloblastomas", "start": 69, "end": 98}}]}}, "schema": []}
{"input": "In the Japanese population, sporadic late-onset Alzheimer' s disease (LOAD) cases had significantly higher frequencies of the A allele of alpha 1-antichymotrypsin (ACT) gene as well as the epsilon 4 allele of apolipoprotein E (APOE) gene than controls.", "output": {"entities": {"gene": [{"text": "ACT", "start": 164, "end": 167}], "disease": [{"text": "sporadic", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In the present study we investigated the effect of CRF (2) receptor activation with urocortin III on airway smooth muscle tone in vitro and in an acute model of airway inflammation in mice.", "output": {"entities": {"gene": [{"text": "CRF (2", "start": 51, "end": 57}], "disease": [{"text": "inflammation", "start": 168, "end": 180}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CRF (2", "start": 51, "end": 57}, "tail": {"text": "inflammation", "start": 168, "end": 180}}]}}, "schema": []}
{"input": "Application of these findings to white matter injury (WMI) models revealed that Apcdd1 similarly promotes OL differentiation after gliotoxic injury in vivo and acute hypoxia ex vivo.", "output": {"entities": {"gene": [{"text": "Apcdd1", "start": 80, "end": 86}], "disease": [{"text": "hypoxia", "start": 166, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.", "output": {"entities": {"gene": [{"text": "Slitrk2", "start": 30, "end": 37}], "disease": [{"text": "FASD", "start": 95, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Slitrk2", "start": 30, "end": 37}, "tail": {"text": "FASD", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "Here, however, we observed that T-cell receptor (TCR) mono-/oligoclonal mature T cells from TCR transgenic (tg) mice (OT-I, P14) expressing the oncogenes NPM/ALK or ΔTrkA readily developed MTCLs in T-cell-deficient recipients.", "output": {"entities": {"gene": [{"text": "ALK", "start": 158, "end": 161}], "disease": [{"text": "mono", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In 81 sporadic gastric cancers, four mutations were detected in seven cases: one was a missense mutation and three were deletions; loss of heterozygosity at the ATBF1 locus was detected in 52. 9% of informative samples.", "output": {"entities": {"gene": [{"text": "ATBF1", "start": 161, "end": 166}], "disease": [{"text": "sporadic", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Activation of p53 mediated pathways in the glia of HAD patients may contribute to the neuroinflammatory processes that promote neurodegeneration by inhibiting glial proliferation and/or promoting glial cell dysfunction.", "output": {"entities": {"gene": [{"text": "p53", "start": 14, "end": 17}], "disease": [{"text": "neurodegeneration", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.", "output": {"entities": {"gene": [{"text": "QKI", "start": 4, "end": 7}], "disease": [{"text": "angiocentric glioma", "start": 26, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "QKI", "start": 4, "end": 7}, "tail": {"text": "angiocentric glioma", "start": 26, "end": 45}}]}}, "schema": []}
{"input": "Our findings suggest that metastatic prostate cancer cells create a metastatic niche by altering the phenotype of local stromal cells, leading to changes in the ECM.", "output": {"entities": {"gene": [{"text": "ECM", "start": 161, "end": 164}], "disease": [{"text": "metastatic prostate cancer", "start": 26, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Twenty-three cervical carcinomas and adjacent precursor lesions were stained with HLA-A-, HLA-B/C-, beta2-microglobulin-, TAP1-and TAP2-antibodies.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 131, "end": 135}], "disease": [{"text": "carcinomas", "start": 22, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "A correlation between ATP5J expression and tumor differentiation was detected, but no correlation with gender, age, T stage, lymph node metastasis, or survival status was observed.", "output": {"entities": {"gene": [{"text": "ATP5J", "start": 22, "end": 27}], "disease": [{"text": "lymph node metastasis", "start": 125, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "To study whether calcium-modulating proteins CASQ2, FKBP12. 6 and SERCA2a participate in diabetic cardiomyopathy, and whether the beneficial actions of testosterone, sildenafil or fructose diphosphate Sr (FDP-Sr) in the treatment of diabetic cardiomyopathy result from suppressing these molecules.", "output": {"entities": {"gene": [{"text": "FDP", "start": 205, "end": 208}], "disease": [{"text": "diabetic cardiomyopathy", "start": 89, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Triple-negative cancers also were shown to have more frequent loss of phosphatase and tensin homologue and mutation of RB1, which may contribute to genomic instability.", "output": {"entities": {"gene": [{"text": "tensin", "start": 86, "end": 92}], "disease": [{"text": "cancers", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Fifty-six patients exhibiting the STGD/FFM phenotype, 6 with arRP, and 8 with arCRD, were screened for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and direct sequencing.", "output": {"entities": {"gene": [{"text": "ABCR", "start": 136, "end": 140}], "disease": [{"text": "STGD", "start": 34, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCR", "start": 136, "end": 140}, "tail": {"text": "STGD", "start": 34, "end": 38}}]}}, "schema": []}
{"input": "Taken together, these results demonstrated that miR-129 suppressed tumorigenesis and progression by directly targeting PAK5, defining miR-129 as a potential treatment target for HCC.", "output": {"entities": {"gene": [{"text": "PAK5", "start": 119, "end": 123}], "disease": [{"text": "tumorigenesis", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "These results provide evidence that future therapeutic strategies against renal fibrosis should be accompanied by the modulation of the M1: M2 and T (H) 1: T (H) 2 balance, as T (H) 2 and M2 cells are predictive of fibrosis toward mechanisms that are sensed by innate immune response and triggered in a MyD88-dependent pathway.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 303, "end": 308}], "disease": [{"text": "fibrosis", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "A large series (N = 846) of sporadic and familial cases originating from South Italy was screened for germline mutations in p16 (CDKN2A), BRCA2, and MC1R genes by DHPLC analysis and automated DNA sequencing.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 138, "end": 143}], "disease": [{"text": "sporadic", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "No known genes were disrupted by the translocation breakpoints but several candidate TSGs (e. g., EPHB1, EPHA7, PPP2R3A RNF184, and STAG1) map within close proximity to the breakpoints.", "output": {"entities": {"gene": [{"text": "EPHB1", "start": 98, "end": 103}], "disease": [{"text": "translocation", "start": 37, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Oncogenic role of fibroblast growth factor receptor 3 in tumorigenesis of urinary bladder cancer.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor receptor 3", "start": 18, "end": 53}], "disease": [{"text": "tumorigenesis", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC, MIM 248250) is a complex renal tubular disorder characterised by hypomagnesaemia, hypercalciuria, advanced nephrocalcinosis, hyposthenuria and progressive renal failure.", "output": {"entities": {"gene": [{"text": "MIM", "start": 74, "end": 77}], "disease": [{"text": "nephrocalcinosis", "start": 49, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We have also investigated the effect of histamine H4 receptor antagonists on histamine H1 receptor antagonist-resistant pruritus using a mouse model.", "output": {"entities": {"gene": [{"text": "histamine H4 receptor", "start": 40, "end": 61}], "disease": [{"text": "pruritus", "start": 120, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "histamine H4 receptor", "start": 40, "end": 61}, "tail": {"text": "pruritus", "start": 120, "end": 128}}]}}, "schema": []}
{"input": "Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.", "output": {"entities": {"gene": [{"text": "protective protein/cathepsin A", "start": 48, "end": 78}], "disease": [{"text": "galactosialidosis", "start": 114, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protective protein/cathepsin A", "start": 48, "end": 78}, "tail": {"text": "galactosialidosis", "start": 114, "end": 131}}]}}, "schema": []}
{"input": "Severe hypoinsulinaemia in diabetic LEW. 1AR1-iddm rats was associated with decreased body weight and increased melatonin plasma levels combined with mainly elevated expression of Aanat, Hiomt, pineal insulin receptor and adrenoceptor β1.", "output": {"entities": {"gene": [{"text": "Aanat", "start": 180, "end": 185}], "disease": [{"text": "body weight", "start": 86, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Subjects with a type-2 CALR mutation had lower hemoglobin concentrations (P = 0. 001), lower WBC counts (P < 0. 001), a higher percentage of blood blasts (P = 0. 009), and higher conventional (P < 0. 001) and Chinese-adjusted Dynamic International Prognostic Scoring System (P < 0. 001) scores compared with subjects with JAK2 mutations.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 322, "end": 326}], "disease": [{"text": "hemoglobin", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.", "output": {"entities": {"gene": [{"text": "preproparathyroid hormone", "start": 46, "end": 71}], "disease": [{"text": "familial isolated hypoparathyroidism", "start": 113, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "preproparathyroid hormone", "start": 46, "end": 71}, "tail": {"text": "familial isolated hypoparathyroidism", "start": 113, "end": 149}}]}}, "schema": []}
{"input": "Our results indicate that in Chinese Hans, common variants in CDKAL1, CDKN2A/B, IGF2BP2, and SLC30A8 loci independently or additively contribute to type 2 diabetes risk, likely mediated through beta-cell dysfunction.", "output": {"entities": {"gene": [{"text": "CDKN2A", "start": 70, "end": 76}], "disease": [{"text": "beta-cell dysfunction", "start": 194, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "The HAL-1/13-Ku80 antigen is present on the surface of leukemic and solid tumor cell lines, including T and B lymphomas, myeloid leukemias, neuroblastoma, rhabdomyosarcoma, and breast carcinoma cells.", "output": {"entities": {"gene": [{"text": "HAL", "start": 4, "end": 7}], "disease": [{"text": "neuroblastoma", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Tumor necrosis factor (TNF)-alpha caused insulin resistance on glucose uptake and GLUT4 translocation by impairing insulin stimulation of insulin receptor (IR) and IR substrate (IRS)-1 and IRS-2 tyrosine phosphorylation, IRS-associated phosphatidylinositol 3-kinase activation, and Akt phosphorylation.", "output": {"entities": {"gene": [{"text": "TNF", "start": 23, "end": 26}], "disease": [{"text": "translocation", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).", "output": {"entities": {"gene": [{"text": "PRPC8", "start": 47, "end": 52}], "disease": [{"text": "RP13", "start": 97, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRPC8", "start": 47, "end": 52}, "tail": {"text": "RP13", "start": 97, "end": 101}}]}}, "schema": []}
{"input": "Because renin is an important enzyme in blood pressure regulation, we studied the possibility that an alteration in the structure of the human renin gene is genetically linked to human essential hypertension or associated with levels of plasma renin activity or blood pressure.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 143, "end": 153}], "disease": [{"text": "blood pressure", "start": 40, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Taken together, we show that the galectin-9/Tim-3 cell signaling pathway is involved in inflammation induced by stroke, and IPostC may reduce infarction by attenuating this novel pathway as well as the inflammatory factors iNOS and nitrotyrosine, but not COX-2.", "output": {"entities": {"gene": [{"text": "Tim-3", "start": 44, "end": 49}], "disease": [{"text": "inflammation", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The results of this study therefore indicate an imbalance in the levels of Th1 and Th2 cytokines at the site of inflammation in RA, and draw attention to the possibility of treatment of progressive or intractable RA with IL-4 and/or IL-10.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 221, "end": 225}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Experiments were performed using retinas from a murine model of oxygen-induced ischemic retinopathy (OIR) that was treated with and without the LOX pathway inhibitor, baicalein, or lacking 12-LOX.", "output": {"entities": {"gene": [{"text": "LOX", "start": 144, "end": 147}], "disease": [{"text": "retinopathy", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Combined GH and IGF-I stimulated body weight gain and in naso-anal length to the same extent as IGF-I alone, whereas GH alone was less potent.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 16, "end": 21}], "disease": [{"text": "body weight gain", "start": 33, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The mechanisms of progression in biliary tract cancer (BTC) with inflammation, including epithelial-mesenchymal transition (EMT), are not well understood.", "output": {"entities": {"gene": [{"text": "BTC", "start": 55, "end": 58}], "disease": [{"text": "inflammation", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These observations raise the possibility that a regulatory program controlled in inhibitory interneurons by the NPAS1 and NPAS3 transcription factors may be either substantively or tangentially relevant to psychosis.", "output": {"entities": {"gene": [{"text": "NPAS1", "start": 112, "end": 117}], "disease": [{"text": "psychosis", "start": 206, "end": 215}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPAS1", "start": 112, "end": 117}, "tail": {"text": "psychosis", "start": 206, "end": 215}}]}}, "schema": []}
{"input": "In contrast, allergen sensitization with high-dose LPS (10 microg) induced asthma phenotypes, i. e., airway hyperresponsiveness and noneosinophilic inflammation that were not developed in IFN-gamma-deficient mice, but unaffected in the absence of IL-4.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 247, "end": 251}], "disease": [{"text": "inflammation", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, the spectrum of MLL translocation partners in adult T-ALL much more resembles that of AML than that of BCP ALL and thus the mechanisms by which MLL contributes to leukemogenesis in adult T-ALL appear to differ from those in BCP ALL.", "output": {"entities": {"gene": [{"text": "BCP", "start": 118, "end": 121}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "This lack of positive transcriptional regulation by the hRex1 protein may be responsible for the lack of Rex1 expression in PC-3 prostate cancer cells.", "output": {"entities": {"gene": [{"text": "Rex1", "start": 57, "end": 61}], "disease": [{"text": "prostate cancer", "start": 129, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Therapeutic targeting of Id2 reduces growth of human colorectal carcinoma in the murine liver.", "output": {"entities": {"gene": [{"text": "Id2", "start": 25, "end": 28}], "disease": [{"text": "colorectal carcinoma", "start": 53, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Only dipyrone inhibited IL-8, PFPF or PGF2alpha fever.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 24, "end": 28}], "disease": [{"text": "fever", "start": 48, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-8", "start": 24, "end": 28}, "tail": {"text": "fever", "start": 48, "end": 53}}]}}, "schema": []}
{"input": "Using this cDNA MKP-1 and a non-viral, in vivo nanoparticle transfection approach, we found that spinal cord overexpression of MKP-1 prevented development of peripheral nerve-injury-induced tactile hypersensitivity and reduced pro-inflammatory cytokines and chemokines and the phosphorylated form of p38.", "output": {"entities": {"gene": [{"text": "p38", "start": 300, "end": 303}], "disease": [{"text": "hypersensitivity", "start": 198, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "This study describes a new gain-of-function p. Asn252Ser variant in the human ISL1 gene, which could potentially lead to greater activation of downstream targets involved in cardiac development, dilation, and hypertrophy.", "output": {"entities": {"gene": [{"text": "ISL1 gene", "start": 78, "end": 87}], "disease": [{"text": "dilation", "start": 195, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The SERPINH1-656 T allele is the first example of an ancestry-informative marker associated with preterm birth in African Americans.", "output": {"entities": {"gene": [{"text": "SERPINH1", "start": 4, "end": 12}], "disease": [{"text": "preterm birth", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Tumor genotyping using the Affymetrix Genome-Wide Human single nucleotide polymorphism (SNP) array 6. 0 Genechip identified deletions of both chromosomal regions involved in the translocation, resulting in partial deletion of ETV4, but an uninvolved EWSR1 gene.", "output": {"entities": {"gene": [{"text": "EWSR1 gene", "start": 250, "end": 260}], "disease": [{"text": "translocation", "start": 178, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "To test whether the muscarinic and gamma-aminobutyric acid (GABA) system are interconnected in normal cognition and dementia, we examined the muscarinic regulation of GABAergic transmission in PFC of an animal model of AD.", "output": {"entities": {"gene": [{"text": "PFC", "start": 193, "end": 196}], "disease": [{"text": "normal cognition", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In contrast, mRNA of the cytoplasmic hsp70 was strongly induced at 4 h after brain injury in multiple brain regions within the injured hemisphere, and this expression was greatly enhanced by secondary hypoxia.", "output": {"entities": {"gene": [{"text": "hsp70", "start": 37, "end": 42}], "disease": [{"text": "hypoxia", "start": 201, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "C/EBP-epsilon: chromosomal mapping and mutational analysis of the gene in leukemia and preleukemia.", "output": {"entities": {"gene": [{"text": "C/EBP-epsilon", "start": 0, "end": 13}], "disease": [{"text": "preleukemia", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We found that transforming growth factor β (TGF-β) induced demethylation of the Lefty B cytosine-phosphate-guanine (CpG) island and increased Lefty expression (10-200 times) in human pancreatic cancer cells and human liver cancer cells (PLC/PRF/5 and HLF).", "output": {"entities": {"gene": [{"text": "Lefty B", "start": 80, "end": 87}], "disease": [{"text": "pancreatic cancer", "start": 183, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "ENG transcripts were increased threefold in CF, with a twofold increase in TGF-& #946; signaling.", "output": {"entities": {"gene": [{"text": "ENG", "start": 0, "end": 3}], "disease": [{"text": "CF", "start": 44, "end": 46}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ENG", "start": 0, "end": 3}, "tail": {"text": "CF", "start": 44, "end": 46}}]}}, "schema": []}
{"input": "Because the cyclin D1 gene was amplified in patients at an advanced stage of HCC with rapid tumor growth, it appeared to be associated with the aggressive behavior of tumors.", "output": {"entities": {"gene": [{"text": "HCC", "start": 77, "end": 80}], "disease": [{"text": "aggressive behavior", "start": 144, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "As synapsin III protein is decreased in schizophrenic brain and because the mutant mice do not harbor obvious anatomical deficits or neurological disorders, these mutants may represent a unique neurodevelopmental model for dissecting the molecular pathways that are related to certain aspects of schizophrenia and related disorders.", "output": {"entities": {"gene": [{"text": "synapsin III", "start": 3, "end": 15}], "disease": [{"text": "schizophrenia and related disorders", "start": 296, "end": 331}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "synapsin III", "start": 3, "end": 15}, "tail": {"text": "schizophrenia and related disorders", "start": 296, "end": 331}}]}}, "schema": []}
{"input": "The c-Jun N-terminal kinases (JNKs) are stress-activated serine-threonine kinases that have recently been linked to various neurological disorders.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 4, "end": 9}], "disease": [{"text": "neurological disorders", "start": 124, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Mutation screening of exons and intron/exon boundaries of GRTH gene was carried out by denaturing high-performance liquid chromatography (DHPLC) in 347 infertile patients with idiopathic azoospermia and severe oligozoospermia as well as 201 fertile men.", "output": {"entities": {"gene": [{"text": "GRTH", "start": 58, "end": 62}], "disease": [{"text": "infertile", "start": 152, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "No correlation was found between this alteration and the rest of the clinical and biological parameters studied (adenopathies, hepatomegaly, splenomegaly, lymphocyte count, staging, CD11c expression, and resistance to chemotherapy).", "output": {"entities": {"gene": [{"text": "CD11c", "start": 182, "end": 187}], "disease": [{"text": "hepatomegaly", "start": 127, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Our goal was to investigate whether a polymorphism in the insulin-like growth factor I promoter gene (IGF-I, wild-type, 192 base pairs) and in the insulin gene (INS) variable number of tandem repeat locus influence birth weight and weight gain in infancy.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 102, "end": 107}], "disease": [{"text": "weight gain", "start": 232, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "We conclude that Bcl-xL is required for the development and function of CD4 Treg, which ameliorate lupus following treatment with a tolerogenic peptide.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 17, "end": 23}], "disease": [{"text": "lupus", "start": 99, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome.", "output": {"entities": {"gene": [{"text": "TGDS", "start": 83, "end": 87}], "disease": [{"text": "Catel-Manzke syndrome", "start": 119, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGDS", "start": 83, "end": 87}, "tail": {"text": "Catel-Manzke syndrome", "start": 119, "end": 140}}]}}, "schema": []}
{"input": "Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia.", "output": {"entities": {"gene": [{"text": "WAS gene", "start": 163, "end": 171}], "disease": [{"text": "infections", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Pyk2/related adhesion focal tyrosine kinase (RAFTK) tyrosine kinase is an upstream regulator of Src family kinases in the central nervous system that is involved in alpha-synuclein phosphorylation.", "output": {"entities": {"gene": [{"text": "alpha-synuclein", "start": 165, "end": 180}], "disease": [{"text": "adhesion", "start": 13, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.", "output": {"entities": {"gene": [{"text": "neurofilament light", "start": 22, "end": 41}], "disease": [{"text": "Charcot-Marie-Tooth disease type 2E", "start": 73, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "neurofilament light", "start": 22, "end": 41}, "tail": {"text": "Charcot-Marie-Tooth disease type 2E", "start": 73, "end": 108}}]}}, "schema": []}
{"input": "A subgroup of apparently sporadic ACC is caused by TP53 germline mutations, and family history is a strong indicator for p53 germline mutations.", "output": {"entities": {"gene": [{"text": "p53", "start": 121, "end": 124}], "disease": [{"text": "sporadic", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Hyperthyroidism increased the basal monocyte surface GLUT3 and GLUT4; in these cells, IGF-I had a marginal but highly significant effect (P = 0. 003, with repeated measures ANOVA) on GLUT3 (11%) and GLUT4 (10%) translocation on the plasma membrane.", "output": {"entities": {"gene": [{"text": "GLUT3", "start": 53, "end": 58}], "disease": [{"text": "translocation", "start": 211, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested the hypothesis that the missence variation Thr136Ile in the VMAT1/SLC18A1 gene is associated with anxiety-related personality traits.", "output": {"entities": {"gene": [{"text": "SLC18A1 gene", "start": 91, "end": 103}], "disease": [{"text": "personality traits", "start": 139, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "CCl4 at a dose of 0. 5 ml/kg of body weight was given intraperitoneally to rats to induce liver damage.", "output": {"entities": {"gene": [{"text": "CCl4", "start": 0, "end": 4}], "disease": [{"text": "body weight", "start": 32, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Protein-disulfide isomerase (PDI) was up-regulated not only by hypoxia in glia in vitro, but also by transient forebrain ischemia in rats in vivo.", "output": {"entities": {"gene": [{"text": "PDI", "start": 29, "end": 32}], "disease": [{"text": "hypoxia", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Mutations in transmembrane activator and calcium-modulating cyclophilin ligand (TACI), are found in 8-10%, associated with autoimmunity and splenomegaly.", "output": {"entities": {"gene": [{"text": "calcium-modulating cyclophilin ligand", "start": 41, "end": 78}], "disease": [{"text": "autoimmunity", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "This study was aimed at clarifying whether cannabinoid-type 1 (CB1) receptor may function as tumor-promoting or-suppressing signal in human cutaneous melanoma.", "output": {"entities": {"gene": [{"text": "CB1", "start": 63, "end": 66}], "disease": [{"text": "cutaneous melanoma", "start": 140, "end": 158}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 63, "end": 66}, "tail": {"text": "cutaneous melanoma", "start": 140, "end": 158}}]}}, "schema": []}
{"input": "The renal responsiveness was determined by the degree of changes of proteinuria at 12 months after initiation of ACE inhibitors and by the slope of reciprocal variation of the serum creatinine against follow-up duration ¿ (1/Cr2-1/Cr1)/durations ¿.", "output": {"entities": {"gene": [{"text": "Cr2", "start": 225, "end": 228}], "disease": [{"text": "proteinuria", "start": 68, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Thus, our data demonstrate that AHR is associated with RP.", "output": {"entities": {"gene": [{"text": "AHR", "start": 32, "end": 35}], "disease": [{"text": "RP", "start": 55, "end": 57}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AHR", "start": 32, "end": 35}, "tail": {"text": "RP", "start": 55, "end": 57}}]}}, "schema": []}
{"input": "In situ hybridization identified specific upregulation and co-expression of Gremlin, Jagged1 and Hes1 in the same tubuli of kidneys from diabetic nephropathy patients, but not controls.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 97, "end": 101}], "disease": [{"text": "diabetic nephropathy", "start": 137, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Under hypoxic conditions, induction of CTGF by TGF-beta was repressed.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 39, "end": 43}], "disease": [{"text": "hypoxic", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "This notion was examined in 314 adult volunteers (54% female) aged 18-45 years (M = 27. 6 years), all of whom reported at least occasional alcohol consumption, who completed online surveys assessing alexithymia (Toronto Alexithymia Scale, or TAS-20), parental alcoholism (Children of Alcoholics Screening Test, or CAST), everyday signs of frontal lobe dysfunction (Frontal Systems Behavior Scale, or FrSBe) and risky alcohol use (Alcohol Use Disorders Identification Test, or AUDIT).", "output": {"entities": {"gene": [{"text": "CAST", "start": 314, "end": 318}], "disease": [{"text": "alcohol use", "start": 417, "end": 428}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, PCR-SSCP analysis and direct DNA sequencing have shown that a human choriocarcinoma cell line, SCH, has a mutant p53 gene at codon 249.", "output": {"entities": {"gene": [{"text": "SCH", "start": 114, "end": 117}], "disease": [{"text": "choriocarcinoma", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "A significant number of patients infected with human immunodeficiency virus-1 (HIV-1) suffer cognitive impairment ranging from mild to severe HIV-associated dementia (HAD), a result of neuronal degeneration in the basal ganglia, cerebral cortex and hippocampus.", "output": {"entities": {"gene": [{"text": "HAD", "start": 167, "end": 170}], "disease": [{"text": "cognitive impairment", "start": 93, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Moreover, bortezomib stimulates Janus kinase (JAK) phosphorylation and activates heat-shock transcription factor-1 (HSF-1) and heat-shock protein 70 (HSP70), ultimately leading to signal transducer and activator of transcription 1 (STAT1) phosphorylation.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 150, "end": 155}], "disease": [{"text": "shock", "start": 86, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have identified novel signalling mechanisms and revealed unexpected roles of Nrg1 isoforms in both the developing and adult nervous system.", "output": {"entities": {"gene": [{"text": "Nrg1", "start": 92, "end": 96}], "disease": [{"text": "nervous system", "start": 139, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Rigorous evaluation of the post-RFA NSE in patients who, at baseline, had BE containing early cancer high-grade intraepithelial neoplasia, showed neither persistent genetic abnormalities nor buried glandular mucosa.", "output": {"entities": {"gene": [{"text": "NSE", "start": 36, "end": 39}], "disease": [{"text": "intraepithelial neoplasia", "start": 112, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "For PPARgamma2 Pro12Ala most traits of twin pairs sharing 2 alleles of IBS had greater correlations and statistic significance in body mass index (BMI), WHR, percent of body fat (PBF) and GLU, but there were low correlations of either insulin or HOMA-IR of twin pairs sharing 1 or 2 alleles of IBS.", "output": {"entities": {"gene": [{"text": "PBF", "start": 179, "end": 182}], "disease": [{"text": "body mass index", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The Schizophrenia Proneness (SzP) scale: an MMPI-2 measure of schizophrenia liability.", "output": {"entities": {"gene": [{"text": "SzP", "start": 29, "end": 32}], "disease": [{"text": "schizophrenia", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to define the function of GIP in human adipose tissue in relation to obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "GIP", "start": 44, "end": 47}], "disease": [{"text": "insulin resistance", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "breast cancer", "start": 73, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "breast cancer", "start": 73, "end": 86}}]}}, "schema": []}
{"input": "Gene silencing assay demonstrated that reduced expression of PRDX2 was associated with increased sensitivity of OS cells to chemotherapeutic drugs such as methotrexate, doxorubicin and cisplatin.", "output": {"entities": {"gene": [{"text": "PRDX2", "start": 61, "end": 66}], "disease": [{"text": "OS", "start": 112, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRDX2", "start": 61, "end": 66}, "tail": {"text": "OS", "start": 112, "end": 114}}]}}, "schema": []}
{"input": "We performed a case-control association study between sporadic AD and the common proline/arginine polymorphism at codon 72 in the pro-apoptotic gene p53, in 109 sporadic AD patients and in 111 controls.", "output": {"entities": {"gene": [{"text": "gene p53", "start": 144, "end": 152}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "NOTCH4 rs367398 was not statistically significantly associated with the occurrence of treatment-resistant schizophrenia after the correction for multiple testing.", "output": {"entities": {"gene": [{"text": "NOTCH4", "start": 0, "end": 6}], "disease": [{"text": "treatment-resistant schizophrenia", "start": 86, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOTCH4", "start": 0, "end": 6}, "tail": {"text": "treatment-resistant schizophrenia", "start": 86, "end": 119}}]}}, "schema": []}
{"input": "We found mutations of VPS13A, VPS13B, VPS13C, VPS33A, VPS35, VPS37B, VPS41, and VPS54 in 9, 3, 12, 3, 5, 9, 2, and 2 cancers, respectively, all in cancers with high microsatellite instability.", "output": {"entities": {"gene": [{"text": "VPS35", "start": 54, "end": 59}], "disease": [{"text": "cancers", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Anti-Th/To and PM-Scl, in contrast, are associated with limited skin disease, but anti-Th/To might be a marker for the development of pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "PM-Scl", "start": 15, "end": 21}], "disease": [{"text": "pulmonary hypertension", "start": 134, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "The SH-HCC in all cases showed diffuse moderate to marked fatty change, abundant balloon cells often containing Mallory-Denk bodies, and pericellular fibrosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 7, "end": 10}], "disease": [{"text": "fibrosis", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "NKX2. 2 overexpression by GBM-derived glioma-initiating cells (GIC) induced oligodendroglial differentiation and suppressed self-renewal capacity.", "output": {"entities": {"gene": [{"text": "NKX2. 2", "start": 0, "end": 7}], "disease": [{"text": "glioma", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "This equilibrium shift may be significant in promoting a pathological condition of RPE cells and contributing to choroidal neovascularization in age-related macular degeneration.", "output": {"entities": {"gene": [{"text": "RPE", "start": 83, "end": 86}], "disease": [{"text": "choroidal neovascularization", "start": 113, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Following removal of the thymic mass, skin pigmentation disappeared and plasma ACTH levels fell to normal.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 79, "end": 83}], "disease": [{"text": "skin pigmentation", "start": 38, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "It has been demonstrated that this chromosomal breakage syndrome results from mutations in the NBS1 gene that cause either a loss of full-length protein expression or expression of a variant protein.", "output": {"entities": {"gene": [{"text": "NBS1", "start": 95, "end": 99}], "disease": [{"text": "chromosomal breakage", "start": 35, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The β-amyloid (Aβ) peptide, which plays a crucial role in the pathogenesis of Alzheimer' s disease, alters hippocampal-dependent synaptic plasticity and memory and mediates synapse loss through the CREB signaling pathway.", "output": {"entities": {"gene": [{"text": "CREB", "start": 198, "end": 202}], "disease": [{"text": "amyloid", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "In surveying a number of tumor types for differences in intrinsic levels of HIF under hypoxia, we find that the reduction of the upstream pathways of HIF, AKT, and mammalian target of rapamycin (mTOR) correlates with increased toxic effects of 2-deoxy-D-glucose (2-DG) in lung cancer cell lines when treated under hypoxia.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 164, "end": 193}], "disease": [{"text": "hypoxia", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "The non-TT genotype at GGH T16C was associated with a high risk of liver dysfunction (P = 0. 028, odds ratio = 6. 90, 95% confidence interval 1. 38-34. 5), even after adjustment for the duration of MTX treatment.", "output": {"entities": {"gene": [{"text": "MTX", "start": 198, "end": 201}], "disease": [{"text": "liver dysfunction", "start": 67, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "There was no effect of the LEP genotypes on weight or BMI Z-scores before risperidone was started.", "output": {"entities": {"gene": [{"text": "LEP", "start": 27, "end": 30}], "disease": [{"text": "weight", "start": 44, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of ErbB2 receptors and losses on chromosome 17p have been proposed as independent indicators of aggressive behaviour, while high TrkC receptor expression indicates a favourable outcome.", "output": {"entities": {"gene": [{"text": "ErbB2", "start": 18, "end": 23}], "disease": [{"text": "aggressive behaviour", "start": 111, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "These techniques were successfully used to detect loss of SMARCB1 in tumor cells of the ascites in a 3-month-old patient in which tumor biopsy could not initially be made due to life threatening intraabdominal bleedings.", "output": {"entities": {"gene": [{"text": "SMARCB1", "start": 58, "end": 65}], "disease": [{"text": "ascites", "start": 88, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Animals of 4 transgenic lines (HLA-DR2. Ab (0), DR4. Ab (0), DQ6. Ab (0), and DQ8. Ab (0)) developed severe toe inflammation accompanied by progressive bone resorption, hyperkeratosis, alopecia, loss of nails, and shortening and thickening of the distal phalanges.", "output": {"entities": {"gene": [{"text": "DR4", "start": 48, "end": 51}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The immunoexpression of MUC5AC and MUC6 was evaluated in 75 adults presenting Helicobacter pylori gastritis (n = 22; 11 cagA positive), duodenal ulcer (DU, n = 11), gastric ulcer (GU, n = 9), gastric carcinoma (GC, n = 20), and normal mucosa (H. pylori negative, n = 13).", "output": {"entities": {"gene": [{"text": "MUC5AC", "start": 24, "end": 30}], "disease": [{"text": "duodenal ulcer", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.", "output": {"entities": {"gene": [{"text": "PLEKHM2", "start": 0, "end": 7}], "disease": [{"text": "left ventricular noncompaction", "start": 143, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PLEKHM2", "start": 0, "end": 7}, "tail": {"text": "left ventricular noncompaction", "start": 143, "end": 173}}]}}, "schema": []}
{"input": "Similarly to immunohistochemical results, PAR-1 mRNA expression was significantly higher in atypical nevi and melanomas in comparison with common nevi and controls.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 42, "end": 47}], "disease": [{"text": "atypical nevi", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In addition to known Stat3 transcriptional targets (Twist, Snail, Tenascin-C and IL-8), we identified ENPP2 as a novel Stat3 regulated gene, which encodes autotaxin (ATX), a secreted lysophospholipase which mediates mammary tumorigenesis and cancer cell migration.", "output": {"entities": {"gene": [{"text": "ATX", "start": 166, "end": 169}], "disease": [{"text": "mammary tumorigenesis", "start": 216, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "FISH analysis for TET2 deletion in a cohort of 362 Brazilian myeloid malignancies: correlation with karyotype abnormalities.", "output": {"entities": {"gene": [{"text": "TET2", "start": 18, "end": 22}], "disease": [{"text": "abnormalities", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "RLPs (50 microg/mL) significantly increased superoxide formation in HUVECs associated with elevated gp91phox mRNA and protein expression and Rac1 translocation, accompanied by increased production of tumor necrosis factor (TNF)-alpha and interleukin-1beta, DNA fragmentation, and cell death.", "output": {"entities": {"gene": [{"text": "TNF", "start": 223, "end": 226}], "disease": [{"text": "translocation", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "SUMMARY To detect the expression of pro-fibrotic molecules, such as heat shock protein 47 (Hsp47), transforming growth factor-beta 1 (TGF-β1) and connective tissue growth factor (CTGF) in liver specimens, and analyse their correlations with the progression of schistosomal hepatic fibrosis, liver biopsy was performed in 42 chronic schistosomiasis (CS) patients, 16 chronic hepatitis B (CHB) patients and five healthy individuals (HI).", "output": {"entities": {"gene": [{"text": "CTGF", "start": 179, "end": 183}], "disease": [{"text": "schistosomiasis", "start": 332, "end": 347}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the relationship of insulin sensitivity (assessed with the quantitative insulin sensitivity check index, QUICKI) to adiponectin and pro-inflammatory markers, levels of high-sensitivity C-reactive protein (hs-CRP) and interleukin-1 receptor antagonist (IL-1 Ra).", "output": {"entities": {"gene": [{"text": "CRP", "start": 221, "end": 224}], "disease": [{"text": "insulin sensitivity", "start": 33, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Indications of linkage between familial pure depressive disease and MNS and depression spectrum disease and ORM were found, as had been previously suggested.", "output": {"entities": {"gene": [{"text": "MNS", "start": 68, "end": 71}], "disease": [{"text": "depression", "start": 76, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MNS", "start": 68, "end": 71}, "tail": {"text": "depression", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "No significant differences in the percentages of IL-3, IL-4 and IL-5 mRNA positive cells were observed between active and nonactive sarcoidosis patients and normal controls (p > 0. 05).", "output": {"entities": {"gene": [{"text": "IL-3", "start": 49, "end": 53}], "disease": [{"text": "sarcoidosis", "start": 132, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "CD82 is recognized as a wide-spectrum tumor metastasis suppressor that inhibits cancer cell motility and invasiveness.", "output": {"entities": {"gene": [{"text": "CD82", "start": 0, "end": 4}], "disease": [{"text": "tumor metastasis", "start": 38, "end": 54}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CD82", "start": 0, "end": 4}, "tail": {"text": "tumor metastasis", "start": 38, "end": 54}}]}}, "schema": []}
{"input": "Short telomeres correlated with ER-negative tumors in sporadic cases but not in familial cases, whereas a high level of apoptosis was associated with shorter telomeres in hereditary BRCA1 and BRCA2 tumors.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 192, "end": 197}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Improving the resistance of astrocytes to ischemic stress by targeting either the cytosolic or mitochondrial compartment was thus associated with preservation of CA1 neurons following forebrain ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 162, "end": 165}], "disease": [{"text": "ischemia", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "However, clinico-pathological parameters, including stage, differentiation, amount of ascites, and serum levels of CA125, did not show any correlation to mRNA expression of any given-type ST. Our results suggest that altered mRNA expressions of alpha2, 3-sialyltransferase ST3Gal I, ST3Gal III, ST3Gal IV, ST3Gal VI, andalpha2, 6-sialyltransferase ST6Gal I are of importance in malignant ovarian cancers.", "output": {"entities": {"gene": [{"text": "ST3Gal I", "start": 273, "end": 281}], "disease": [{"text": "ascites", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We used denaturing high performance liquid chromatography (D-HPLC) and direct sequencing to screen 216 patients (134 with autosomal recessive or sporadic retinitis pigmentosa (RP) and 82 with other retinal dystrophies) for RBP1 and RBP3, and 331 patients for RGR (79 cases with autosomal dominant RP and 36 RP cases with undetermined inheritance were added to the 216 previous patients).", "output": {"entities": {"gene": [{"text": "RBP3", "start": 232, "end": 236}], "disease": [{"text": "sporadic", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Several new recurrent genetic molecular abnormalities have recently been identified, including TET2, ASXL1, IDH1, IDH2, DNMT3A, and PHF6.", "output": {"entities": {"gene": [{"text": "TET2", "start": 95, "end": 99}], "disease": [{"text": "abnormalities", "start": 40, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Eotaxin and monocyte chemotactic protein (MCP)-4 are 2 eosinophil-associated chemokines shown to be upregulated at sites of allergic inflammation.", "output": {"entities": {"gene": [{"text": "MCP", "start": 42, "end": 45}], "disease": [{"text": "inflammation", "start": 133, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "These analyses revealed that 5 genes, i. e., AMOG (ATP1B2, 17p13. 1), APOD (3q26. 2-qter), DMXL1 (5q23. 1) DRR1 (TU3A, 3p14. 2) and PSD3 (KIAA09428/HCA67/EFA6R, 8p22), were expressed at significantly lower levels in secondary glioblastomas as compared to diffuse astrocytomas of WHO grade II.", "output": {"entities": {"gene": [{"text": "EFA6R", "start": 154, "end": 159}], "disease": [{"text": "secondary", "start": 216, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "No significant association between sporadic ALS and the six previously reported associated SNPs in FGGY was observed: rs6700125 (p = 0. 56), rs6690993 (p = 0. 30), rs10493256 (p = 0. 68), rs6587852 (p = 0. 64), rs1470407 (p = 0. 28) and rs333662 (p = 0. 44).", "output": {"entities": {"gene": [{"text": "FGGY", "start": 99, "end": 103}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Several studies have been suggesting annexin A1 protein as an active player in tumorigenesis of many organs.", "output": {"entities": {"gene": [{"text": "annexin A1", "start": 37, "end": 47}], "disease": [{"text": "tumorigenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 27, "end": 47}], "disease": [{"text": "neurohypophyseal diabetes insipidus", "start": 101, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "arginine vasopressin", "start": 27, "end": 47}, "tail": {"text": "neurohypophyseal diabetes insipidus", "start": 101, "end": 136}}]}}, "schema": []}
{"input": "To elucidate the functional state of T cells in guttate psoriasis, we analysed mRNA expression levels of T-bet and GATA-3 for Th1 and Th2 differentiation, respectively together with Th1 (IFN-γ) and Th2 (IL-4) cytokine mRNA expression.", "output": {"entities": {"gene": [{"text": "Th1", "start": 126, "end": 129}], "disease": [{"text": "guttate psoriasis", "start": 48, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of SHH signaling by cyclopamine induced apoptosis and blocked proliferation in all major types of neuroblastoma cells, and abrogated the tumorigenicity of neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "SHH", "start": 14, "end": 17}], "disease": [{"text": "neuroblastoma", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 112, "end": 130}], "disease": [{"text": "elevated erythrocyte sedimentation rate", "start": 71, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "For detection of chlamydial infection, HC2-RCS had a sensitivity and a specificity similar to those of PCR (P > 0. 5) and an improved sensitivity compared to that of culture (P = 0. 007).", "output": {"entities": {"gene": [{"text": "RCS", "start": 43, "end": 46}], "disease": [{"text": "chlamydial infection", "start": 17, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "A significant OR for interaction between GCKR rs1260326 T/T and current smoking (OR = 1. 79, p = 0. 041) was also observed.", "output": {"entities": {"gene": [{"text": "GCKR", "start": 41, "end": 45}], "disease": [{"text": "smoking", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Nine of 10 tumor samples showed LMP7 gene downregulation, and four of 10 presented TAP2 dysregulation.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 83, "end": 87}], "disease": [{"text": "tumor", "start": 11, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Using a mouse model of MDA-MB-231 human breast cancer cell metastasis to bone, here we show that fish oil diet enriched in DHA (docosahexaenoic acid) and EPA (eicosapentaenoic acid) prevents the formation of osteolytic lesions in bone, indicating suppression of cancer cell metastasis to bone.", "output": {"entities": {"gene": [{"text": "EPA", "start": 154, "end": 157}], "disease": [{"text": "metastasis to bone", "start": 59, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We examined the association between 36 genotyped and 193 imputed SNPs within four lipid-lowering drug target genes (HMGCR, PPARA, HM74A/GPR109A and CETP) and four non-lipid drug target genes (ACE, AGTR1, P2RY12, and ATP4B) and lipid phenotypes, blood pressure, and coronary artery disease in 5635 adult participants of the Lausanne, Switzerland, CoLaus study, genotyped using the Affymetrix 500K SNP chip technology.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 116, "end": 121}], "disease": [{"text": "blood pressure", "start": 245, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed the composite expression of cancer-testis antigens (CTA) and melanocyte-differentiation antigens (MDA) in malignant glioma tissue and primary glioma cell lines and compared them with normal brain specimens and meningioma.", "output": {"entities": {"gene": [{"text": "CTA", "start": 79, "end": 82}], "disease": [{"text": "meningioma", "start": 237, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "An inverse relationship between p21 and p53 was observed wherein mutant p53 proteins were detected in 4 of 15 (27%) HNPCCs versus 22 of 32 (69%) sporadic carcinomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 40, "end": 43}], "disease": [{"text": "sporadic", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We conducted cross-sectional analyses within the Nurses' Health Study (n = 538), to investigate variation in mammographic breast density, by 10 polymorphisms in eight candidate genes (CYP17, CYP19, CYP1A1, CYP1B1, COMT, UGT1A1, AR, and AIB1).", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 206, "end": 212}], "disease": [{"text": "mammographic breast density", "start": 109, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The results demonstrate that in the human skin the activation of mitogen-activated protein kinase pathway and up-regulation of CK17 and TGK may play roles in the pathogenesis of chloracne related to dioxin exposures.", "output": {"entities": {"gene": [{"text": "TGK", "start": 136, "end": 139}], "disease": [{"text": "chloracne", "start": 178, "end": 187}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGK", "start": 136, "end": 139}, "tail": {"text": "chloracne", "start": 178, "end": 187}}]}}, "schema": []}
{"input": "This is the first reported case of a child with a mutation in IFT172 who presented with growth retardation in early childhood and was initially managed as a case of functional GH deficiency that responded to rhGH therapy.", "output": {"entities": {"gene": [{"text": "IFT172", "start": 62, "end": 68}], "disease": [{"text": "growth retardation", "start": 88, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "They include deficiencies of adenine or hypoxanthine-guanine phosphoribosyltransferases, adenosine deaminase, nucleoside phosphorylase, and hyperactivity of ribosephosphate pyrophosphokinase.", "output": {"entities": {"gene": [{"text": "nucleoside phosphorylase", "start": 110, "end": 134}], "disease": [{"text": "hyperactivity", "start": 140, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "FISH analysis using a hotspot tumor tissue microarray of 37 paraffin-embedded neuroblastoma samples and in silico data mining for gene expression information obtained from previously published studies including up to 445 healthy nervous system samples and 123 neuroblastoma samples were used to evaluate the clinical significance and transcriptional consequences of the detected alterations and to identify subsequently activated gene (s).", "output": {"entities": {"gene": [{"text": "FISH", "start": 0, "end": 4}], "disease": [{"text": "nervous system", "start": 229, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation L619F in the cardiac Na + channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 51, "end": 56}], "disease": [{"text": "LQT3", "start": 91, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 51, "end": 56}, "tail": {"text": "LQT3", "start": 91, "end": 95}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the association between Apolipoprotein E (ApoE) gene polymorphism in the development of diabetic foot ulcers in Type 2 diabetes Turkish patients.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 65, "end": 81}], "disease": [{"text": "diabetic foot ulcers", "start": 129, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "We investigated the antitumor activity of treatment with IFN-α, with the oncolytic adenovirus SG600-IL-24, or the combination of both in HCC in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "HCC", "start": 137, "end": 140}], "disease": [{"text": "adenovirus", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "As a tumor suppressor, FEN1 plays an essential role in keeping genomic instability and preventing tumorigenesis.", "output": {"entities": {"gene": [{"text": "FEN1", "start": 23, "end": 27}], "disease": [{"text": "genomic instability", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This FDG-PET study with SPM99 compared 46 patients with sporadic Alzheimer disease (SAD) to 40 patients with familial AD (FAD) and to 35 matched controls.", "output": {"entities": {"gene": [{"text": "FAD", "start": 122, "end": 125}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Multivariate analysis revealed that acute respiratory failure (odds ratio = 8. 9; 95% confidence interval = 2. 6-30. 9; P = 0. 001) and serotype 19A infection (odds ratio = 5. 0; 95% confidence interval = 1. 2-22. 1; P = 0. 03) were risk factors for the development of BPF.", "output": {"entities": {"gene": [{"text": "19A", "start": 145, "end": 148}], "disease": [{"text": "acute respiratory failure", "start": 36, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In PBC, HCV, and submassive necrosis, the expression levels of MDR1, MRP1, and MRP3 were increased.", "output": {"entities": {"gene": [{"text": "MRP1", "start": 69, "end": 73}], "disease": [{"text": "necrosis", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of CLPTM1L and depletion of NMM-II induced aneuploidy, indicating that CLPTM1L may interfere with normal NMM-II function in regulating cytokinesis.", "output": {"entities": {"gene": [{"text": "CLPTM1L", "start": 18, "end": 25}], "disease": [{"text": "aneuploidy", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We have analyzed three regulatory IL-4 polymorphisms;-590C > T,-34C > T and 70 bp intron-3 VNTR, in 4216 individuals; including: (1) 430 ethnically matched case-control groups (173 severe malaria, 101 mild malaria and 156 asymptomatic); (2) 3452 individuals from 76 linguistically and geographically distinct endogamous populations of India, and (3) 334 individuals with different ancestry from outside India (84 Brazilian, 104 Syrian, and 146 Vietnamese).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 34, "end": 38}], "disease": [{"text": "asymptomatic", "start": 222, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "The aim was to assess the contribution of FLG null-alleles to pediatric IBD susceptibility and to coexistent atopy (eczema, asthma, allergic rhinitis, or food allergy).", "output": {"entities": {"gene": [{"text": "FLG", "start": 42, "end": 45}], "disease": [{"text": "food allergy", "start": 154, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We studied 46 cases of extramedullary plasmacytoma by immunostaining with anti-ALK antibody and fluorescence in situ hybridization (FISH) analysis using an ALK break-apart probe and found one case to be ALK protein-positive and demonstrated the disruption of the ALK gene in this case.", "output": {"entities": {"gene": [{"text": "FISH", "start": 132, "end": 136}], "disease": [{"text": "extramedullary plasmacytoma", "start": 23, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Pdcd4 repression of lysyl oxidase inhibits hypoxia-induced breast cancer cell invasion.", "output": {"entities": {"gene": [{"text": "lysyl oxidase", "start": 20, "end": 33}], "disease": [{"text": "hypoxia", "start": 43, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D).", "output": {"entities": {"gene": [{"text": "PGAM-M", "start": 15, "end": 21}], "disease": [{"text": "PGAM deficiency", "start": 65, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PGAM-M", "start": 15, "end": 21}, "tail": {"text": "PGAM deficiency", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome.", "output": {"entities": {"gene": [{"text": "COH1", "start": 41, "end": 45}], "disease": [{"text": "Cohen syndrome", "start": 186, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COH1", "start": 41, "end": 45}, "tail": {"text": "Cohen syndrome", "start": 186, "end": 200}}]}}, "schema": []}
{"input": "Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration.", "output": {"entities": {"gene": [{"text": "MIM", "start": 28, "end": 31}], "disease": [{"text": "dehydration", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Lupus erythematosus (LE) and dermatomyositis (DM) are interface dermatitis, histologically characterized by formation of colloid bodies and a CD4 + CD8 + lymphocyte infiltrate.", "output": {"entities": {"gene": [{"text": "CD4", "start": 142, "end": 145}], "disease": [{"text": "interface dermatitis", "start": 54, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the association between this SNP in PNPLA3 and fibrosis progression and development of HCC among HCV-infected patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 100, "end": 103}], "disease": [{"text": "fibrosis", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "By molecular cytogenetics and direct sequencing, we searched for USB1 deletions/duplications and point mutations in 141 bone marrow DNA samples from patients with myelodysplastic syndromes (n = 126), myelodysplastic/myeloproliferative neoplasms (n = 12) and acute myeloid leukaemia (n = 3).", "output": {"entities": {"gene": [{"text": "USB1", "start": 65, "end": 69}], "disease": [{"text": "acute myeloid leukaemia", "start": 258, "end": 281}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.", "output": {"entities": {"gene": [{"text": "SLC37A4", "start": 20, "end": 27}], "disease": [{"text": "glycogen storage disease type Ib", "start": 58, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC37A4", "start": 20, "end": 27}, "tail": {"text": "glycogen storage disease type Ib", "start": 58, "end": 90}}]}}, "schema": []}
{"input": "These data suggest that NAAG-mediated signaling is disrupted in the AH in schizophrenia and localize the defect to the CA1 and CA3 regions.", "output": {"entities": {"gene": [{"text": "CA3", "start": 127, "end": 130}], "disease": [{"text": "schizophrenia", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We found that XRCC1 399Gln and XRCC3 241Met were deficient in the repair of gamma-ray-but not UV-light-induced DNA damage that led to the expression of chromosome aberrations; therefore the variant genotypes are defective in base excision repair.", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 31, "end": 36}], "disease": [{"text": "chromosome aberrations", "start": 152, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We conducted a comprehensive analysis of the APA products in glioblastoma multiforme (GBM, one of the most lethal brain tumors) and normal brain tissues and further developed a computational pipeline, RNAelements (http://sysbio. zju. edu. cn/RNAelements/), using covariance model from known RNA binding protein (RBP) targets acquired by RNA Immunoprecipitation (RIP) analysis.", "output": {"entities": {"gene": [{"text": "RIP", "start": 362, "end": 365}], "disease": [{"text": "glioblastoma multiforme", "start": 61, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "However, the underlying mechanism is still poorly understood, and conflicting data on the levels of overexpression of 5'-cytosine DNA methyltransferase in sporadic colon carcinoma have been published.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase", "start": 130, "end": 151}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "For smoking initiation, there was no significant association with the four DRD5 markers we studied; however, maximum likelihood analyses suggested the presence of a haplotype protective against smoking initiation.", "output": {"entities": {"gene": [{"text": "DRD5", "start": 75, "end": 79}], "disease": [{"text": "smoking", "start": 4, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "Glutathione-S-transferase A4-4 modulates oxidative stress in endothelium: possible role in human atherosclerosis.", "output": {"entities": {"gene": [{"text": "Glutathione-S-transferase A4-4", "start": 0, "end": 30}], "disease": [{"text": "atherosclerosis", "start": 97, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Glutathione-S-transferase A4-4", "start": 0, "end": 30}, "tail": {"text": "atherosclerosis", "start": 97, "end": 112}}]}}, "schema": []}
{"input": "Decreased lung fibroblast growth factor 18 and elastin in human congenital diaphragmatic hernia and animal models.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor 18", "start": 15, "end": 42}], "disease": [{"text": "diaphragmatic hernia", "start": 75, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "fibroblast growth factor 18", "start": 15, "end": 42}, "tail": {"text": "diaphragmatic hernia", "start": 75, "end": 95}}]}}, "schema": []}
{"input": "In contrast to findings in prostate and testicular cancer and similar to breast cancer, p44 shows strong cytoplasmic localization in morphologically normal ovarian surface and fallopian tube epithelia, while nuclear p44 is observed in invasive ovarian carcinoma.", "output": {"entities": {"gene": [{"text": "p44", "start": 88, "end": 91}], "disease": [{"text": "testicular cancer", "start": 40, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.", "output": {"entities": {"gene": [{"text": "GPR126", "start": 20, "end": 26}], "disease": [{"text": "adolescent idiopathic scoliosis", "start": 47, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR126", "start": 20, "end": 26}, "tail": {"text": "adolescent idiopathic scoliosis", "start": 47, "end": 78}}]}}, "schema": []}
{"input": "Congenital adrenal hyperplasia arising from 21-hydroxylase deficiency is associated with mutations in the CYP21 gene on chromosome 6p.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 106, "end": 111}], "disease": [{"text": "21-hydroxylase deficiency", "start": 44, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 106, "end": 111}, "tail": {"text": "21-hydroxylase deficiency", "start": 44, "end": 69}}]}}, "schema": []}
{"input": "The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "CT10", "start": 101, "end": 105}], "disease": [{"text": "carcinomas", "start": 186, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these findings indicate that sensitivity of p38 MAPK signaling pathways to immune stimulation is associated with depressive symptoms during chronic IFN-alpha treatment.", "output": {"entities": {"gene": [{"text": "p38", "start": 60, "end": 63}], "disease": [{"text": "depressive symptoms", "start": 129, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p38", "start": 60, "end": 63}, "tail": {"text": "depressive symptoms", "start": 129, "end": 148}}]}}, "schema": []}
{"input": "NANOG phosphorylates NUMB by atypical protein kinase C zeta (aPKCζ), through the direct induction of Aurora A kinase (AURKA) and the repression of an aPKCζ inhibitor, lethal (2) giant larvae.", "output": {"entities": {"gene": [{"text": "protein kinase C zeta", "start": 38, "end": 59}], "disease": [{"text": "giant", "start": 178, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "UBD-positive expression accompanied with p65 nuclei translocation was a significant independent predictive high risk factor for overall survival (HR 8. 76; 95% CI, 5. 35-14. 27; P = 0. 004) and disease-free survival (HR 5. 70; 95% CI, 1. 43-11. 55; P = 0. 016).", "output": {"entities": {"gene": [{"text": "UBD", "start": 0, "end": 3}], "disease": [{"text": "translocation", "start": 52, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.", "output": {"entities": {"gene": [{"text": "keratin 5", "start": 52, "end": 61}], "disease": [{"text": "Weber-Cockayne epidermolysis bullosa", "start": 79, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 5", "start": 52, "end": 61}, "tail": {"text": "Weber-Cockayne epidermolysis bullosa", "start": 79, "end": 115}}]}}, "schema": []}
{"input": "This paper is to study implications of apoptotic versus necrotic cascades for the development of hippocampal CA1 neuronal death in the primate brain undergoing complete global ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 109, "end": 112}], "disease": [{"text": "ischemia", "start": 176, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "SUMO-1 may be useful as a novel target for therapy in colon cancer as well as a clinical indicator for tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "SUMO-1", "start": 0, "end": 6}], "disease": [{"text": "aggressiveness", "start": 109, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that, in human cancer cells, RBX1 silencing causes the accumulation of DNA replication licensing proteins CDT1 and ORC1, leading to DNA double-strand breaks, DDR, G (2) arrest, and, eventually, aneuploidy.", "output": {"entities": {"gene": [{"text": "DDR", "start": 172, "end": 175}], "disease": [{"text": "aneuploidy", "start": 208, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "The superior prefrontal, temporal and occipital networks were positively related to DCDC2 in the schizophrenia, but not the control group.", "output": {"entities": {"gene": [{"text": "DCDC2", "start": 84, "end": 89}], "disease": [{"text": "schizophrenia", "start": 97, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DCDC2", "start": 84, "end": 89}, "tail": {"text": "schizophrenia", "start": 97, "end": 110}}]}}, "schema": []}
{"input": "Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "ZMYND10", "start": 13, "end": 20}], "disease": [{"text": "primary ciliary dyskinesia", "start": 126, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZMYND10", "start": 13, "end": 20}, "tail": {"text": "primary ciliary dyskinesia", "start": 126, "end": 152}}]}}, "schema": []}
{"input": "The primary tumors of MCP-1 (-/-) mice consistently developed necrosis earlier than those of WT mice and showed decreased infiltration by macrophages and reduced angiogenesis.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 22, "end": 27}], "disease": [{"text": "necrosis", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "This study replicates the previous finding of a high rate of conversion from BD-NOS to BD-I or II among youth, and suggests conversion is related to symptoms of bipolar disorder or depression diagnoses in the family history.", "output": {"entities": {"gene": [{"text": "NOS", "start": 80, "end": 83}], "disease": [{"text": "depression", "start": 181, "end": 191}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS", "start": 80, "end": 83}, "tail": {"text": "depression", "start": 181, "end": 191}}]}}, "schema": []}
{"input": "We therefore suggest that screening for intragenic deletions and duplications by qPCR or MLPA should be considered for patients with CCD phenotype in whom DNA sequencing does not reveal a causative RUNX2 mutation.", "output": {"entities": {"gene": [{"text": "RUNX2", "start": 198, "end": 203}], "disease": [{"text": "CCD", "start": 133, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RUNX2", "start": 198, "end": 203}, "tail": {"text": "CCD", "start": 133, "end": 136}}]}}, "schema": []}
{"input": "AC2 and SDA were far superior to culture for the detection of C. trachomatis and N. gonorrhoeae in the rectum, with both tests detecting at least twice as many infections.", "output": {"entities": {"gene": [{"text": "SDA", "start": 8, "end": 11}], "disease": [{"text": "infections", "start": 160, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Dermal fibroblasts exposed to hypoxia (1% O (2)) or CoCl (2) (1-100 microM) enhanced expression of CTGF mRNA.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 99, "end": 103}], "disease": [{"text": "hypoxia", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "The protein and mRNA levels of VEGF-A and EphA2 in the residual tumor tissues group that received HIFU were significantly decreased until 1 week compared with the control group (P < 0. 01).", "output": {"entities": {"gene": [{"text": "EphA2", "start": 42, "end": 47}], "disease": [{"text": "residual tumor", "start": 55, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We have examined the expression of mRNAs for epidermal growth factor (EGF), transforming growth factor-alpha (TGF-alpha), EGF receptor (EGFR), PDGF-A chain (PDGFA), PDGF-B chain (PDGFB) and PDGF receptor (PDGFR) genes in seven human colorectal carcinoma cell lines and 18 human colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "PDGFB", "start": 179, "end": 184}], "disease": [{"text": "colorectal carcinoma", "start": 233, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "RA-V inhibits breast cancer cell migration, adhesion and ECM degradation in vitro, implying that RA-V is a potential anti-metastatic agent in breast cancer, and likely acts via PI3K/AKT and NF-κB signaling pathways in both ER-positive and ER-negative breast cancer cells.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 190, "end": 195}], "disease": [{"text": "adhesion", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Primary sclerosing cholangitis (PSC) is an inflammatory disease of the biliary tree associated with an increase in the HLA alleles DR3, DR52a, DR2, Dw2, and a decrease in DR4.", "output": {"entities": {"gene": [{"text": "DR3", "start": 131, "end": 134}], "disease": [{"text": "inflammatory disease", "start": 43, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.", "output": {"entities": {"gene": [{"text": "S100B", "start": 134, "end": 139}], "disease": [{"text": "major depression", "start": 51, "end": 67}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100B", "start": 134, "end": 139}, "tail": {"text": "major depression", "start": 51, "end": 67}}]}}, "schema": []}
{"input": "Our results show a significant decrease in the activity of GAPDH in blood samples from patients with FAD as compared to sporadic cases and healthy controls.", "output": {"entities": {"gene": [{"text": "FAD", "start": 101, "end": 104}], "disease": [{"text": "sporadic", "start": 120, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 in desmoplastic small round cell tumors with EWS-WT1 gene fusion product and their role in stromal desmoplasia: an immunohistochemical study.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 0, "end": 6}], "disease": [{"text": "desmoplastic", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "PGC-1β overexpression leads to the attenuation of macrophage-mediated inflammation.", "output": {"entities": {"gene": [{"text": "PGC", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.", "output": {"entities": {"gene": [{"text": "URAT1", "start": 64, "end": 69}], "disease": [{"text": "renal hypouricemia", "start": 78, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "URAT1", "start": 64, "end": 69}, "tail": {"text": "renal hypouricemia", "start": 78, "end": 96}}]}}, "schema": []}
{"input": "In cancer cell lines, SEMA3F overexpression decreases hypoxia-induced factor 1alpha protein and vascular endothelial growth factor mRNA, and inhibits multiple signaling components.", "output": {"entities": {"gene": [{"text": "SEMA3F", "start": 22, "end": 28}], "disease": [{"text": "hypoxia", "start": 54, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The genotypes of ACAT-1 AC, LIPC GA and AA, and SCARB1 TT; LDL-R A-A-and LIPC GA; and SCARB1 TT were interacted with overweight/obesity to increase systolic, diastolic blood pressure (SBP, DBP) and pulse pressure (PP) levels; respectively.", "output": {"entities": {"gene": [{"text": "SCARB1", "start": 48, "end": 54}], "disease": [{"text": "diastolic blood pressure", "start": 158, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Correcting diastolic dysfunction by Ca2 + desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 36, "end": 39}], "disease": [{"text": "restrictive cardiomyopathy", "start": 96, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to investigate the pro-apoptotic effect of camptothecin (CPT) on Y79 retinoblastoma cells and the role of Forkhead box, class O (FOXO1) in CPT-induced apoptosis.", "output": {"entities": {"gene": [{"text": "CPT", "start": 87, "end": 90}], "disease": [{"text": "retinoblastoma", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 103, "end": 108}], "disease": [{"text": "sporadic", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The results indicate that there exists possible interrelation between TH and TPH gene expression and epigenetic histone acetylation in CUS-induced depressive rats, which at least partly contributes to the etiology of depression.", "output": {"entities": {"gene": [{"text": "TH", "start": 70, "end": 72}], "disease": [{"text": "depression", "start": 217, "end": 227}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TH", "start": 70, "end": 72}, "tail": {"text": "depression", "start": 217, "end": 227}}]}}, "schema": []}
{"input": "When combining the effects of HLA-DP rs3077 and rs9277535, subjects carrying \" ≥ 1 \" variant alleles had a 1. 55-fold increased risk of cervical cancer (95% CI = 1. 32-1. 81), compared with those carrying \" 0 \" variant allele.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 30, "end": 36}], "disease": [{"text": "cervical cancer", "start": 136, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "A number of oncogenes and tumor suppressor genes participating in tumorigenesis have been identified, one of them being nm23.", "output": {"entities": {"gene": [{"text": "nm23", "start": 120, "end": 124}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Here, we report the first occurrence of compound heterozygous PINK1 mutations in a sporadic patient with a phenotype indistinguishable from idiopathic Parkinson' s disease (PD), with onset in the late seventh decade, rapid progression and good response to levodopa that waned with time.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 62, "end": 67}], "disease": [{"text": "sporadic", "start": 83, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Patients were divided into compensated hypertrophy and failure groups, based on preoperative echocardiography, catheterization, and/or MRI data.", "output": {"entities": {"gene": [{"text": "MRI", "start": 135, "end": 138}], "disease": [{"text": "hypertrophy", "start": 39, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The down-regulation of EPC1 by specific-shRNA with lentivirus vector was significantly decreased the survival rate and apoptosis of A549 cells, and the tumors in EPC1 shRNA transfection group had a significant lower size and weight compared with the ones with control shRNA.", "output": {"entities": {"gene": [{"text": "EPC1", "start": 23, "end": 27}], "disease": [{"text": "weight", "start": 225, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "systolic blood pressure (SBP), diastolic blood pressure (DBP) and pulse pressure (PP) were markedly higher in MS and EH compared with those in DM and control (P < 0. 01).", "output": {"entities": {"gene": [{"text": "DBP", "start": 57, "end": 60}], "disease": [{"text": "systolic blood pressure", "start": 0, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 0, "end": 5}], "disease": [{"text": "Menkes disease", "start": 41, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7A", "start": 0, "end": 5}, "tail": {"text": "Menkes disease", "start": 41, "end": 55}}]}}, "schema": []}
{"input": "The antiviral activity has been associated with the induction of a 70-kDa heat-shock protein (HSP70), via activation of the heat-shock transcription factor (HSF) in infected cells.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 94, "end": 99}], "disease": [{"text": "shock", "start": 79, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We have treated 14 patients with either metastatic melanoma or kidney cancer, using CY 350 mg/M (2) intravenously (i. v.) over 1 hour followed by a continuous infusion IL-2 9 MIU/M (2)/24 hours for 72 hours and famotidine 20 mg i. v. twice per day.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 168, "end": 172}], "disease": [{"text": "kidney cancer", "start": 63, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-2", "start": 168, "end": 172}, "tail": {"text": "kidney cancer", "start": 63, "end": 76}}]}}, "schema": []}
{"input": "After demonstrating that MYH14 is highly expressed in mouse cochlea, we performed a mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4.", "output": {"entities": {"gene": [{"text": "MYH14", "start": 25, "end": 30}], "disease": [{"text": "DFNA4", "start": 221, "end": 226}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH14", "start": 25, "end": 30}, "tail": {"text": "DFNA4", "start": 221, "end": 226}}]}}, "schema": []}
{"input": "Overall, this study defines Hsp27 as a critical regulator of IL-6-dependent and IL-6-independent EMT, validating this chaperone as a therapeutic target to treat metastatic prostate cancer.", "output": {"entities": {"gene": [{"text": "EMT", "start": 97, "end": 100}], "disease": [{"text": "metastatic prostate cancer", "start": 161, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Enforced expression of MnSOD by adenovirus transfection in the rapid growing cell line MIA PaCa-2 increased MnSOD immunoreactivity and MnSOD activity and decreased growth rate.", "output": {"entities": {"gene": [{"text": "MIA", "start": 87, "end": 90}], "disease": [{"text": "adenovirus", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "[Frequent epigenetic inactivation of XAF1 by promotor hypermethylation in human colon cancers].", "output": {"entities": {"gene": [{"text": "XAF1", "start": 37, "end": 41}], "disease": [{"text": "colon cancers", "start": 80, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XAF1", "start": 37, "end": 41}, "tail": {"text": "colon cancers", "start": 80, "end": 93}}]}}, "schema": []}
{"input": "Apaf1-deficient mice exhibited reduced apoptosis in the brain and striking craniofacial abnormalities with hyperproliferation of neuronal cells.", "output": {"entities": {"gene": [{"text": "Apaf1", "start": 0, "end": 5}], "disease": [{"text": "craniofacial abnormalities", "start": 75, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Apaf1", "start": 0, "end": 5}, "tail": {"text": "craniofacial abnormalities", "start": 75, "end": 101}}]}}, "schema": []}
{"input": "Sarcolipin (SLN) is a low-molecular-weight protein that copurifies with the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2 + ATPase (SERCA1).", "output": {"entities": {"gene": [{"text": "SERCA1", "start": 141, "end": 147}], "disease": [{"text": "weight", "start": 36, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The Asian variant of intravascular lymphoma (AIVL) is characterized by hemophagocytic syndrome, pancytopenia and hepatosplenomegaly but usually lacks any neurological abnormality and skin lesions, which are typical features of classical intravascular lymphoma (IVL).", "output": {"entities": {"gene": [{"text": "IVL", "start": 46, "end": 49}], "disease": [{"text": "lymphoma", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype.", "output": {"entities": {"gene": [{"text": "ltbp3", "start": 158, "end": 163}], "disease": [{"text": "AD", "start": 39, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ltbp3", "start": 158, "end": 163}, "tail": {"text": "AD", "start": 39, "end": 41}}]}}, "schema": []}
{"input": "We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas.", "output": {"entities": {"gene": [{"text": "BRG1", "start": 13, "end": 17}], "disease": [{"text": "endometrial stromal sarcoma", "start": 434, "end": 461}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized type-2 inflammation driven by IL-4 and IL-13 is necessary for Schistosoma-induced TGF-β-dependent vascular remodeling.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 46, "end": 50}], "disease": [{"text": "inflammation", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease.", "output": {"entities": {"gene": [{"text": "CELSR3", "start": 47, "end": 53}], "disease": [{"text": "Hirschsprung disease", "start": 66, "end": 86}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CELSR3", "start": 47, "end": 53}, "tail": {"text": "Hirschsprung disease", "start": 66, "end": 86}}]}}, "schema": []}
{"input": "Our findings indicate that the combined effect of antiangiogenesis and apoptosis-induction activity makes the VEGI-251-armed oncolytic adenovirus a promising therapeutic agent for cancer.", "output": {"entities": {"gene": [{"text": "VEGI", "start": 110, "end": 114}], "disease": [{"text": "adenovirus", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In several lymphoma lines, methylation of NFATC1 promoter DNA resulted in a \" window of hypomethylation, \" which is flanked by Sp1-binding sites.", "output": {"entities": {"gene": [{"text": "Sp1", "start": 127, "end": 130}], "disease": [{"text": "lymphoma", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The methylation levels of ID4, CCND2, and CDH13 increased significantly from normal breast tissue to CCL and to DCIS/invasive carcinoma.", "output": {"entities": {"gene": [{"text": "ID4", "start": 26, "end": 29}], "disease": [{"text": "invasive carcinoma", "start": 117, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Moreover, DDX3 expression correlated with hypoxia-related proteins EGFR, HER2, FOXO4, ERα and c-Met in a HIF-1α dependent fashion, and with COMMD1, FER kinase, Akt1, E-cadherin, TfR and FOXO3A independent of HIF-1α.", "output": {"entities": {"gene": [{"text": "FOXO4", "start": 79, "end": 84}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We previously found plasma levels of CD40 ligand (CD40L), chemokine (C-X-C motif) ligand 5 (CXCL5), chemokine (C-C motif) ligand 5 (CCL5) and epidermal growth factor (EGF) to be low in aplastic anemia (AA) patients and to be correlated with platelet count.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 92, "end": 97}], "disease": [{"text": "anemia", "start": 194, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "We investigated the prevalence of common polymorphisms that have been associated with diseases, such as atherosclerosis (ALOX5), hypertension (CYP3A5, AGT, GNB3), diabetes (CAPN10, TCF7L2, PTPN22), prostate cancer (DG8S737, rs1447295), Hirschsprung disease (RET), and age-related macular degeneration (CFH, LOC387715).", "output": {"entities": {"gene": [{"text": "ALOX5", "start": 121, "end": 126}], "disease": [{"text": "age-related macular degeneration", "start": 268, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 18, "end": 24}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "In male patients, the X-linked IGSF1 deficiency syndrome is characterized by CeH, hypoprolactinemia, delayed puberty, macro-orchidism, and increased body weight.", "output": {"entities": {"gene": [{"text": "IGSF1", "start": 31, "end": 36}], "disease": [{"text": "hypoprolactinemia", "start": 82, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGSF1", "start": 31, "end": 36}, "tail": {"text": "hypoprolactinemia", "start": 82, "end": 99}}]}}, "schema": []}
{"input": "The immune-related pathways, ribosome pathway, immune-related genes including (HLA-DRB1, HLA-DPA1, HLA-DPB1, HLA-DOA and HLA-DRA) and ribosome-related genes (RPL31, RPS3A and RPL9) might be involved in systemic vasculitis.", "output": {"entities": {"gene": [{"text": "HLA-DPB1", "start": 99, "end": 107}], "disease": [{"text": "systemic vasculitis", "start": 202, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the cellular role of BRCA2 in sporadic breast tumors, we studied the cellular localization and the expression of BRCA2 in carcinomas presenting or not allelic loss of BRCA2.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 34, "end": 39}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Mosaic IDH1 mutations are described as the cause of metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA), and mutations in IDH2 as the cause of D-2-hydroxyglutaric aciduria (D-2HGA) type II.", "output": {"entities": {"gene": [{"text": "IDH2", "start": 163, "end": 167}], "disease": [{"text": "chondromatosis", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The study was sought to delineate the activity of GGH and expression FPGS in tissues involved in folate homeostasis during alcoholism and the epigenetic regulation of these enzymes and transporters regulating intracellular folate levels.", "output": {"entities": {"gene": [{"text": "GGH", "start": 50, "end": 53}], "disease": [{"text": "alcoholism", "start": 123, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GGH", "start": 50, "end": 53}, "tail": {"text": "alcoholism", "start": 123, "end": 133}}]}}, "schema": []}
{"input": "In the present work 156 feline mammary lesions consisting of feline mammary carcinomas (FMCs), benign neoplasms, and hyperplastic/dysplastic tissues were evaluated histologically and by immunohistochemistry for expression of basal and luminal cytokeratins (CK), vimentin, alpha-smooth muscle actin, calponin, estrogen receptor (ER) alpha (a), and progesterone receptor (PR).", "output": {"entities": {"gene": [{"text": "smooth muscle actin", "start": 278, "end": 297}], "disease": [{"text": "benign neoplasms", "start": 95, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "After excluding 149 persons with glaucoma, male sex, higher IOP, lower diastolic blood pressure, lower body mass index, and diabetes mellitus were significant predictors of greater CDR.", "output": {"entities": {"gene": [{"text": "CDR", "start": 181, "end": 184}], "disease": [{"text": "diastolic blood pressure", "start": 71, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "However, BRCA2-associated HBCs are without distinctive clinicopathologic features compared with sporadic breast carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 9, "end": 14}], "disease": [{"text": "sporadic", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "], exit site infections [IRR 5. 59 (95% CI: 3. 50-8. 92)], and peritonitis [IRR 2. 19 (95% CI: 1. 39-3. 45)], as well as increased antibiotic use [IRR 3. 43 (95% CI: 2. 50-4. 72)], including vancomycin [IRR 2. 15 (95%: 2. 13-2. 16)].", "output": {"entities": {"gene": [{"text": "IRR", "start": 25, "end": 28}], "disease": [{"text": "peritonitis", "start": 63, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).", "output": {"entities": {"gene": [{"text": "MHC class II transactivator", "start": 30, "end": 57}], "disease": [{"text": "bare lymphocyte syndrome", "start": 108, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MHC class II transactivator", "start": 30, "end": 57}, "tail": {"text": "bare lymphocyte syndrome", "start": 108, "end": 132}}]}}, "schema": []}
{"input": "Thus, the findings of our study suggest that there are no significant associations between GSTM1 and GSTP1 polymorphisms and sperm parameters at conventional or at molecular levels including OS status, sperm chromatin integrity or maturity in Iranian infertile men with OAT and normozoospermia.", "output": {"entities": {"gene": [{"text": "OAT", "start": 270, "end": 273}], "disease": [{"text": "infertile", "start": 251, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these data suggest that there may be a mechanistic link between T cell activation, CD4 + T cell counts, and viremia and lends support for the hypothesis of altered predator-prey dynamics as a possible explanation of the stability of CD4 + T cell counts in the presence of sustained multi-drug resistant viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 97, "end": 100}], "disease": [{"text": "viremia", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "IL-4 operates through the IL-4 receptor (IL-4R, a heterodimer of IL-4Ralpha and either gammac or IL-13Ralpha1) and IL-13 operates through IL-13R (a heterodimer of IL-4Ralpha and IL-13Ralpha1) to promote IgE synthesis and IgE-based mucosal inflammation which typify atopy.", "output": {"entities": {"gene": [{"text": "IL-13R", "start": 97, "end": 103}], "disease": [{"text": "mucosal inflammation", "start": 231, "end": 251}]}, "relations": {}}, "schema": []}
{"input": "We further observed a significant decrease of TGF-beta 1 mRNA levels in BD by RT-PCR in individual post-mortem samples.", "output": {"entities": {"gene": [{"text": "TGF-beta 1", "start": 46, "end": 56}], "disease": [{"text": "BD", "start": 72, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGF-beta 1", "start": 46, "end": 56}, "tail": {"text": "BD", "start": 72, "end": 74}}]}}, "schema": []}
{"input": "The relationship between the apolipoprotein E (apoE) and beta-fibrinogen G/A-455 polymorphisms and cerebrovascular disease (CVD) was examined in the present study.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 29, "end": 45}], "disease": [{"text": "fibrinogen", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We also genotyped the DCLK1 region in additional samples of cases with SCZ, BP or ADHD and controls that had not been whole-genome typed.", "output": {"entities": {"gene": [{"text": "DCLK1", "start": 22, "end": 27}], "disease": [{"text": "BP", "start": 76, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DCLK1", "start": 22, "end": 27}, "tail": {"text": "BP", "start": 76, "end": 78}}]}}, "schema": []}
{"input": "Fifteen of the 20 genes were methylated in more than one of 21 primary breast cancers in Stages I or II, and especially, those of LOC346978, HOXD11, SIM1, PCDHGB6 and FLJ25161 were methylated in more than 10 cancers.", "output": {"entities": {"gene": [{"text": "PCDHGB6", "start": 155, "end": 162}], "disease": [{"text": "breast cancers", "start": 71, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PCDHGB6", "start": 155, "end": 162}, "tail": {"text": "breast cancers", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.", "output": {"entities": {"gene": [{"text": "SBNO2", "start": 79, "end": 84}], "disease": [{"text": "schizophrenia", "start": 86, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SBNO2", "start": 79, "end": 84}, "tail": {"text": "schizophrenia", "start": 86, "end": 99}}]}}, "schema": []}
{"input": "1x10 (6) MSC, isolated from green fluorescent protein (GFP) transgenic rats, into Rif-1 fibrosarcoma-bearing C3H/HeN mice.", "output": {"entities": {"gene": [{"text": "MSC", "start": 9, "end": 12}], "disease": [{"text": "fibrosarcoma", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Exposure of A549 lung cancer cells to CCL18 in various concentrations decreases the epithelial marker E-cadherin, whereas FSP-1, a marker of the mesenchymal phenotype increases.", "output": {"entities": {"gene": [{"text": "CCL18", "start": 38, "end": 43}], "disease": [{"text": "lung cancer", "start": 17, "end": 28}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCL18", "start": 38, "end": 43}, "tail": {"text": "lung cancer", "start": 17, "end": 28}}]}}, "schema": []}
{"input": "Injection of clonidine (1 micrograms/kg) into the cisterna magna decreased PRA from levels stimulated by prior hemorrhage into a blood reservoir to reduce mean blood pressure by 25% (21. 7 ng/ml/hr +/-6. 6 SE leads to 11. 1 ng/ml/hr +/-2. 4 SE; p less than 0. 05).", "output": {"entities": {"gene": [{"text": "PRA", "start": 75, "end": 78}], "disease": [{"text": "hemorrhage", "start": 111, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 29, "end": 33}], "disease": [{"text": "Melnick-Needles Syndrome", "start": 60, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLNA", "start": 29, "end": 33}, "tail": {"text": "Melnick-Needles Syndrome", "start": 60, "end": 84}}]}}, "schema": []}
{"input": "We further identified KDM5B, a histone demethylase known to be involved in breast cancer tumorigenesis, as a target of miR-137.", "output": {"entities": {"gene": [{"text": "miR-137", "start": 119, "end": 126}], "disease": [{"text": "tumorigenesis", "start": 89, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Here we present a possible mechanism that explains how these substances result in apoptosis in cancer cells by ENOX2-mediated alterations of cytosolic amounts of NAD (+) and NADH.", "output": {"entities": {"gene": [{"text": "ENOX2", "start": 111, "end": 116}], "disease": [{"text": "cancer", "start": 95, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ENOX2", "start": 111, "end": 116}, "tail": {"text": "cancer", "start": 95, "end": 101}}]}}, "schema": []}
{"input": "Manganese superoxide dismutase modulates interleukin-1alpha levels in HT-1080 fibrosarcoma cells.", "output": {"entities": {"gene": [{"text": "Manganese superoxide dismutase", "start": 0, "end": 30}], "disease": [{"text": "fibrosarcoma", "start": 78, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, our data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 124, "end": 128}], "disease": [{"text": "abnormalities", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Silibinin exhibits inhibitory effects on basal and cytokine-induced expression of sPLA2s in cancer cells and therefore, may have the potential to protect against up-regulation of hGIIA and other sPLA2 isoforms during inflammation and cancer.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 82, "end": 87}], "disease": [{"text": "inflammation", "start": 217, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 20, "end": 25}], "disease": [{"text": "Jackson-Weiss syndrome", "start": 88, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 20, "end": 25}, "tail": {"text": "Jackson-Weiss syndrome", "start": 88, "end": 110}}]}}, "schema": []}
{"input": "Treatment with the first-line chemotherapy agent for GBM, Temozolomide, paradoxically enriches for both FOXM1 (+) and MELK (+) cells in GBM cells, and addition of Siomycin A to Temozolomide treatment in mice harboring GSC-derived intracranial tumors enhances the effects of the latter.", "output": {"entities": {"gene": [{"text": "GSC", "start": 218, "end": 221}], "disease": [{"text": "intracranial tumors", "start": 230, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "Protein expression of ABCA12, ABCC8 and ABCD2 in tumor tissues of patients with breast carcinoma was observed by immunoblotting for the first time.", "output": {"entities": {"gene": [{"text": "ABCA12", "start": 22, "end": 28}], "disease": [{"text": "breast carcinoma", "start": 80, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We identified three de novo point mutations in MPZ exon 3 in a sporadic DSS patient.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 47, "end": 50}], "disease": [{"text": "DSS", "start": 72, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPZ", "start": 47, "end": 50}, "tail": {"text": "DSS", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "Involvement of adropin and adropin-associated genes in metabolic abnormalities of hemodialysis patients.", "output": {"entities": {"gene": [{"text": "adropin", "start": 15, "end": 22}], "disease": [{"text": "abnormalities", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "For DISC1-related sporadic psychiatric disease, we propose a mechanism whereby impaired cellular control over self-association of DISC1 leads to excessive multimerization and subsequent formation of detergent-resistant aggregates, culminating in loss of ligand binding, here exemplified by NDEL1.", "output": {"entities": {"gene": [{"text": "NDEL1", "start": 290, "end": 295}], "disease": [{"text": "sporadic", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "The treatment of choice for profound sensorineural hearing loss (SNHL) is direct electrical stimulation of spiral ganglion cells (SGC) via a cochlear implant (CI).", "output": {"entities": {"gene": [{"text": "SGC", "start": 130, "end": 133}], "disease": [{"text": "profound sensorineural hearing loss", "start": 28, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 15, "end": 30}], "disease": [{"text": "Budd-Chiari syndrome", "start": 94, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor V Leiden", "start": 15, "end": 30}, "tail": {"text": "Budd-Chiari syndrome", "start": 94, "end": 114}}]}}, "schema": []}
{"input": "In CAPS we found associations of common carotid artery (CCA)-IMT with 2 CX3CL1 (rs170364, rs614230) and 1 CX3CR1 (rs3732378) variants, and significant interactions of CX3CR1 rs11129820, rs3732378, and rs614230 variants with smoking and alcohol consumption in relation with CCA-IMT.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 106, "end": 112}], "disease": [{"text": "alcohol consumption", "start": 236, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "Clinical and MRI findings in spinocerebellar ataxia type 5.", "output": {"entities": {"gene": [{"text": "MRI", "start": 13, "end": 16}], "disease": [{"text": "spinocerebellar ataxia type 5", "start": 29, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.", "output": {"entities": {"gene": [{"text": "aspartoacylase", "start": 10, "end": 24}], "disease": [{"text": "Canavan disease", "start": 104, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "aspartoacylase", "start": 10, "end": 24}, "tail": {"text": "Canavan disease", "start": 104, "end": 119}}]}}, "schema": []}
{"input": "MCP-1 has been reported to be dynamically regulated in IDC and may contribute to the deterioration of left ventricular function.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 0, "end": 5}], "disease": [{"text": "left ventricular function", "start": 102, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Not only does IL-6 decrease the insulin sensitivity of human cells such as adipocytes, but it also regulates the lineage commitment of naïve T cells into interleukin (IL)-17A-producing CD4 (+) T (Th17) cells.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 14, "end": 18}], "disease": [{"text": "insulin sensitivity", "start": 32, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate that MSH6 missense mutations can effectively separate the two functions, and that increased mutation rates associated with the loss of DNA repair are sufficient to drive tumorigenesis in MMR-defective tumors.", "output": {"entities": {"gene": [{"text": "MMR", "start": 211, "end": 214}], "disease": [{"text": "tumorigenesis", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "The TP53 gene has been shown to have an important role in the genesis of sporadic, presumably mainly sunlight-related, basal cell carcinoma (BCC).", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 4, "end": 13}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Weak association of the platelet-derived growth factor beta (PDGFB) and PDGF receptor beta (PDGFRB) genes with schizophrenia and schizoaffective disorder.", "output": {"entities": {"gene": [{"text": "PDGFRB", "start": 92, "end": 98}], "disease": [{"text": "schizophrenia", "start": 111, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGFRB", "start": 92, "end": 98}, "tail": {"text": "schizophrenia", "start": 111, "end": 124}}]}}, "schema": []}
{"input": "PGE (1)-induced hypotension has an effect on IL-6 response to oral and maxillofacial surgery.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 45, "end": 49}], "disease": [{"text": "hypotension", "start": 16, "end": 27}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 45, "end": 49}, "tail": {"text": "hypotension", "start": 16, "end": 27}}]}}, "schema": []}
{"input": "This manuscript describes euthyroid hyperthyroxinemia secondary to elevated serum T4-binding prealbumin (TBPA) concentrations in a patient with islet cell carcinoma and reports serum TBPA measurements in other patients with islet cell carcinoma.", "output": {"entities": {"gene": [{"text": "TBPA", "start": 105, "end": 109}], "disease": [{"text": "euthyroid hyperthyroxinemia", "start": 26, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Resistin concentrations were significantly correlated with white blood cell count (r = 0. 326, P <. 001), hs-CRP concentrations (r = 0. 293, P =. 005), MCP-1 concentrations (r = 0. 251, P =. 005), body mass index (r = 0. 193, P =. 033), and high-density lipoprotein cholesterol (r =-0. 182, P =. 044).", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 152, "end": 157}], "disease": [{"text": "body mass index", "start": 197, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "The effects of 10, c12-CLA and c9, t11-CLA on VEGF-A mRNA and protein expression in MCF-7 cells, which were co-cultured with human breast stromal cells isolated from breast tissues of surgical specimens of mammoplasty and breast cancer patients, were detected by RT-PCR and Western blot analysis.", "output": {"entities": {"gene": [{"text": "t11", "start": 35, "end": 38}], "disease": [{"text": "breast cancer", "start": 222, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 40, "end": 45}], "disease": [{"text": "non-small cell lung cancer", "start": 102, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 40, "end": 45}, "tail": {"text": "non-small cell lung cancer", "start": 102, "end": 128}}]}}, "schema": []}
{"input": "De novo DAZ microdeletions in an infertile male can be transmitted to a male offspring via ICSI.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 8, "end": 11}], "disease": [{"text": "infertile", "start": 33, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "K-ras mutation (GGT--> GAT, G12D) was detected in five (31%) gastric cancer cell lines and in 1 (1. 6%) gastric cancer tissue sample.", "output": {"entities": {"gene": [{"text": "GAT", "start": 23, "end": 26}], "disease": [{"text": "gastric cancer", "start": 61, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "MRI revealed a hypoplastic anterior pituitary in the girl at 14 years and pituitary enlargement in the boy at 18 years.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "enlargement", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, SM treatment increased the binding activities of TNF-alpha and TNF-beta to the lung cancers, and the intrinsic TNFs-resistant cancer cells became susceptible to TNF-alpha and-beta.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 63, "end": 72}], "disease": [{"text": "resistant cancer", "start": 130, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, RYBP expression was induced by cisplatin, and adenovirus-mediated RYBP expression inhibited HCC tumor growth and sensitized HCC to conventional chemotherapy in vivo.", "output": {"entities": {"gene": [{"text": "HCC", "start": 105, "end": 108}], "disease": [{"text": "adenovirus", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We tested this hypothesis in ex vivo hearts, human mastocytoma cells, and bone marrow-derived MCs from wild-type and H4R knockout mice.", "output": {"entities": {"gene": [{"text": "H4R", "start": 117, "end": 120}], "disease": [{"text": "mastocytoma", "start": 51, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.", "output": {"entities": {"gene": [{"text": "IFT80", "start": 0, "end": 5}], "disease": [{"text": "asphyxiating thoracic dystrophy", "start": 87, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IFT80", "start": 0, "end": 5}, "tail": {"text": "asphyxiating thoracic dystrophy", "start": 87, "end": 118}}]}}, "schema": []}
{"input": "Oncostatin M (OSM) is a member of the interleukin-6 (IL-6) cytokine family and known to be induced in the nervous system as a result of cell stress.", "output": {"entities": {"gene": [{"text": "OSM", "start": 14, "end": 17}], "disease": [{"text": "nervous system", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "We studied the effects of NF-κB inhibition on IDD, using a DNA repair-deficient mouse model of accelerated aging (Ercc1 mice) previously been reported to exhibit age-related IDD.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 26, "end": 31}], "disease": [{"text": "aging", "start": 107, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The results imply that BPA has a detrimental effect on female health by promoting uterine tumorigenesis.", "output": {"entities": {"gene": [{"text": "BPA", "start": 23, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The results showed that the levels of sL-selectin were significantly higher in untreated and therapy-resistant acute leukemia patients, and expression of L-selectin mRNA and cell surface L-selectinin in untreated and NR patients were significantly lower than that in CR patients and control group (P < 0. 05).", "output": {"entities": {"gene": [{"text": "L-selectin", "start": 39, "end": 49}], "disease": [{"text": "acute leukemia", "start": 111, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Notably, colons of human ulcerative colitis patients, as well as colorectal tumors, reveal downregulation of RNF20/RNF40 and H2Bub1 in both epithelium and stroma, supporting the clinical relevance of our tissue culture and mouse model findings.", "output": {"entities": {"gene": [{"text": "RNF20", "start": 109, "end": 114}], "disease": [{"text": "ulcerative colitis", "start": 25, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Expression of autotaxin and lysophosphatidic acid receptors increases mammary tumorigenesis, invasion, and metastases.", "output": {"entities": {"gene": [{"text": "autotaxin", "start": 14, "end": 23}], "disease": [{"text": "mammary tumorigenesis", "start": 70, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In addition, IL-5 showed a significant inverse correlation with forced expiratory volume (FEV1) (P < 0. 04, n = 5), whereas IL-4 positively correlated with PC20adenosine-monophosphate (AMP) (P < 0. 02, n = 8).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 124, "end": 128}], "disease": [{"text": "forced expiratory volume", "start": 64, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Among 154 known leukaemia-related genes, several oncogenes were found to be upregulated, including LARG, TAL1 and MLL, and of several tumour suppressor genes were downregulated, including DLEU1, RUNX1, FANCD2 and DKC1.", "output": {"entities": {"gene": [{"text": "DKC1", "start": 213, "end": 217}], "disease": [{"text": "leukaemia", "start": 16, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Apart from the frequent occurrence of contralateral BC and a positive ER-status, BRCA2-associated BC did not markedly differ from other hereditary or sporadic BC.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 81, "end": 86}], "disease": [{"text": "sporadic", "start": 150, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "This report examined the TCR beta-chains expressed by purified CD4 + and CD8 + T cells from normal colonic lamina propria and from the intestinal mucosa of patients with active ulcerative colitis (UC).", "output": {"entities": {"gene": [{"text": "CD4", "start": 63, "end": 66}], "disease": [{"text": "ulcerative colitis", "start": 177, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "When thrombin is not bound to thrombomodulin, it can convert fibrinogen to fibrin, factor V to factor Va, and factor VIII to factor VIIIa but will not convert protein C to APC.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 110, "end": 121}], "disease": [{"text": "fibrinogen", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In order to study the expression of MMP2, MMP3 and MMP9 in breast cancer brain metastasis, we used a syngeneic rat model of distant metastasis of ENU1564, a carcinogen-induced mammary adenocarcinoma cell line.", "output": {"entities": {"gene": [{"text": "MMP9", "start": 51, "end": 55}], "disease": [{"text": "mammary adenocarcinoma", "start": 176, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "The suppressive effects of nm23-1 transfection on metastatic potential are also associated with increased TSP expression; ras transfection, which results in increased tumorigenesis, is associated with decreased TSP expression.", "output": {"entities": {"gene": [{"text": "nm23", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 167, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Compared with smoking referents, there was a significant over-representation of the GSTM1-null genotype among patients with squamous cell carcinoma (SQ) [odds ratio (OR) = 1. 7, 95% confidence interval (95% CI) = 1. 1-2. 7], and the NAT2-slow genotype among patients with large cell carcinoma or mixed histological diagnosis (LM) (OR = 2. 5, 95% CI = 1. 0-6. 1).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 233, "end": 237}], "disease": [{"text": "smoking", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Our study provides the first evaluation of the relationship between SNPs of the OPG/RANK system and sporadic PHPT.", "output": {"entities": {"gene": [{"text": "OPG", "start": 80, "end": 83}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.", "output": {"entities": {"gene": [{"text": "keratin 5", "start": 6, "end": 15}], "disease": [{"text": "Weber-Cockayne epidermolysis bullosa", "start": 50, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 5", "start": 6, "end": 15}, "tail": {"text": "Weber-Cockayne epidermolysis bullosa", "start": 50, "end": 86}}]}}, "schema": []}
{"input": "The mRNA levels of pain-related neurotrophic factors, NGF, GDNF and IL-6, were examined in the sural nerves of 22 painful and non-painful patients with acute necrotizing vasculitic neuropathies, together with their concomitant soluble receptors (p75, GFR (alpha)-1 and IL-6R (alpha)).", "output": {"entities": {"gene": [{"text": "GFR", "start": 251, "end": 254}], "disease": [{"text": "painful", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "RASSF1A was also methylated in two out of two fibrosis and in three (75%) out of four cirrhosis; the latter carries an increased risk of developing HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 148, "end": 151}], "disease": [{"text": "fibrosis", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Autocrine production of interleukin-8 confers cisplatin and paclitaxel resistance in ovarian cancer cells.", "output": {"entities": {"gene": [{"text": "interleukin-8", "start": 24, "end": 37}], "disease": [{"text": "ovarian cancer", "start": 85, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-8", "start": 24, "end": 37}, "tail": {"text": "ovarian cancer", "start": 85, "end": 99}}]}}, "schema": []}
{"input": "CLP resulted in circulatory failure and a significant downregulation of AT (1)-receptors.", "output": {"entities": {"gene": [{"text": "CLP", "start": 0, "end": 3}], "disease": [{"text": "circulatory failure", "start": 16, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We investigated a case of MEM by molecular, cytogenetic, and gene array analyses and compared results with our previously unpublished series of 51 pediatric tumors including conventional RMS, Ewing sarcoma (EWS), medulloblastoma (MED), atypical teratoid rhabdoid tumor (ATRT), and malignant peripheral nerve sheath tumor (MPNST); the latter is a sarcoma also with potential for divergent differentiation.]", "output": {"entities": {"gene": [{"text": "MED", "start": 230, "end": 233}], "disease": [{"text": "malignant peripheral nerve sheath tumor", "start": 281, "end": 320}]}, "relations": {}}, "schema": []}
{"input": "Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "protein C", "start": 15, "end": 24}], "disease": [{"text": "familial hypertrophic cardiomyopathy", "start": 54, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene.", "output": {"entities": {"gene": [{"text": "IDS", "start": 160, "end": 163}], "disease": [{"text": "Hunter syndrome", "start": 31, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDS", "start": 160, "end": 163}, "tail": {"text": "Hunter syndrome", "start": 31, "end": 46}}]}}, "schema": []}
{"input": "We hypothesized that controlled submaximal endurance training would not adversely affect ventricular repolarization in asymptomatic carriers of a KCNQ1 gene mutation of type 1 long QT syndrome (LQT1).", "output": {"entities": {"gene": [{"text": "KCNQ1 gene", "start": 146, "end": 156}], "disease": [{"text": "asymptomatic", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "LIF expression and localization was measured in human ischaemic stroke autopsy specimens, in a rat model of middle cerebral artery occlusion (MCAO) and in human foetal neural cell cultures following oxygen-glucose deprivation (OGD) by Western blotting and immunohistochemistry.", "output": {"entities": {"gene": [{"text": "LIF", "start": 0, "end": 3}], "disease": [{"text": "middle cerebral artery occlusion", "start": 108, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 65, "end": 83}], "disease": [{"text": "familial medullary thyroid carcinoma", "start": 112, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 65, "end": 83}, "tail": {"text": "familial medullary thyroid carcinoma", "start": 112, "end": 148}}]}}, "schema": []}
{"input": "These results demonstrate long-term efficacy of AAV-mediated PEDF overexpression in counteracting retinal neovascularization in a relevant animal model, and provides evidence towards the use of this strategy to treat angiogenesis in DR and other chronic proliferative retinal disorders.", "output": {"entities": {"gene": [{"text": "PEDF", "start": 61, "end": 65}], "disease": [{"text": "retinal neovascularization", "start": 98, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Secondary endpoints included changes in the international cooperative ataxia rating scale (ICARS), the FA rating scale (FARS), and a survey of activities of daily living (ADL).", "output": {"entities": {"gene": [{"text": "ADL", "start": 171, "end": 174}], "disease": [{"text": "ataxia", "start": 70, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We conclude that, of the three AMPA genes analyzed here, only GRIA3 seems to be involved in the pathogenesis of schizophrenia, but only in females.", "output": {"entities": {"gene": [{"text": "GRIA3", "start": 62, "end": 67}], "disease": [{"text": "schizophrenia", "start": 112, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA3", "start": 62, "end": 67}, "tail": {"text": "schizophrenia", "start": 112, "end": 125}}]}}, "schema": []}
{"input": "Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.", "output": {"entities": {"gene": [{"text": "glucose 6-phosphate translocase", "start": 31, "end": 62}], "disease": [{"text": "glycogen storage disease type Ib", "start": 127, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucose 6-phosphate translocase", "start": 31, "end": 62}, "tail": {"text": "glycogen storage disease type Ib", "start": 127, "end": 159}}]}}, "schema": []}
{"input": "Parallel physicochemical and functional investigations of L68Q-cystatin C and wild-type cystatin C revealed that both proteins effectively inhibit the cysteine proteinase cathepsin B (equilibrium constants for dissociation, 0. 4 and 0. 5 nM, respectively) but differ considerably in their tendency to dimerize and form aggregates.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 171, "end": 182}], "disease": [{"text": "dissociation", "start": 210, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "This study aims to determine if a p53 codon 72 arginine-to-proline polymorphism, found to be correlated with cancer development and cancer patient survival in other tumors, is associated with sporadic meningioma initiation or progression.", "output": {"entities": {"gene": [{"text": "p53", "start": 34, "end": 37}], "disease": [{"text": "sporadic", "start": 192, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice that were heterozygous for a porcine HSP70i gene ([+] HSP72), transgene-negative littermate controls ([-] HSP72), and normal Institute of Cancer Research strain mice (ICR) under pentobarbital sodium anesthesia were subjected to heat stress (40 degrees C) to induce heatstroke.", "output": {"entities": {"gene": [{"text": "HSP70i", "start": 53, "end": 59}], "disease": [{"text": "heat stress", "start": 244, "end": 255}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HSP70i", "start": 53, "end": 59}, "tail": {"text": "heat stress", "start": 244, "end": 255}}]}}, "schema": []}
{"input": "The level of an acidic, probably phosphorylated, Ywhag isoform is down-regulated in the SON by dehydration, although total levels are unchanged.", "output": {"entities": {"gene": [{"text": "SON", "start": 88, "end": 91}], "disease": [{"text": "dehydration", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Finally, we will discuss how this epigenetic inactivation of HIC1 might \" addict \" cancer cells to altered survival and signaling pathways or to lineage-specific transcription factors during the early stages of tumorigenesis.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 61, "end": 65}], "disease": [{"text": "tumorigenesis", "start": 211, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "It was observed that H2AX gene expression was negatively correlated with miR-24-2 expression and not in accordance with the gene copy number status, both in cell lines and in sporadic breast tumor tissues.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 21, "end": 25}], "disease": [{"text": "breast tumor", "start": 184, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "H2AX", "start": 21, "end": 25}, "tail": {"text": "breast tumor", "start": 184, "end": 196}}]}}, "schema": []}
{"input": "We herein report the first successful in vivo transfer of STAT6 decoy ODN to reduce the late-phase reaction, thereby providing a new therapeutic strategy for AD.", "output": {"entities": {"gene": [{"text": "STAT6", "start": 58, "end": 63}], "disease": [{"text": "AD", "start": 158, "end": 160}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "STAT6", "start": 58, "end": 63}, "tail": {"text": "AD", "start": 158, "end": 160}}]}}, "schema": []}
{"input": "Therefore, therapeutic up-regulation of HO-1 could represent a mode for inhibition of PSC proliferation and thus may provide a novel strategy in the prevention of pancreatic fibrosis.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 40, "end": 44}], "disease": [{"text": "fibrosis", "start": 174, "end": 182}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HO-1", "start": 40, "end": 44}, "tail": {"text": "fibrosis", "start": 174, "end": 182}}]}}, "schema": []}
{"input": "Finally, we found that 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR), an AMPK activator known to increase mitochondrial biogenesis, markedly stimulates OAT expression, thus representing a possible treatment for a subset of GA patients with hypomorphic alleles.", "output": {"entities": {"gene": [{"text": "OAT", "start": 160, "end": 163}], "disease": [{"text": "GA", "start": 231, "end": 233}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OAT", "start": 160, "end": 163}, "tail": {"text": "GA", "start": 231, "end": 233}}]}}, "schema": []}
{"input": "Some T cell leukaemia patients have chromosomal abnormalities involving both genes, implying that LMO2 and TAL1 act synergistically to promote tumorigenesis after their inappropriate co-expression.", "output": {"entities": {"gene": [{"text": "TAL1", "start": 107, "end": 111}], "disease": [{"text": "tumorigenesis", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, simultaneous mutations in K-ras and TP53 are indicative of a worse prognosis in sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "TP53", "start": 51, "end": 55}], "disease": [{"text": "sporadic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Compared with non-tumour tissues of vocal cords polyps, MICA and ULBP-3 were strongly overexpressed on both the human laryngeal carcinoma cell line Hep-2 and fresh human laryngeal carcinoma tissues.", "output": {"entities": {"gene": [{"text": "MICA", "start": 56, "end": 60}], "disease": [{"text": "laryngeal carcinoma", "start": 118, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Transcriptional targets of IGF-I represent pathways of increased aggressiveness and possibly hormone independence in clinical breast cancers.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 27, "end": 32}], "disease": [{"text": "aggressiveness", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Since COX enzyme has been involved, with different mechanisms, in the development and progression of malignancies we decided to investigate the expression and localization of COX-1 and COX-2 in normal human oral mucosa and three different pathologies (hyperplasia, dysplasia and carcinoma) by immunohistochemistry and RT-PCR.", "output": {"entities": {"gene": [{"text": "COX", "start": 6, "end": 9}], "disease": [{"text": "hyperplasia", "start": 252, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "N-Myc downstream-regulated gene 2 (NDRG2), a new HIF-1 target gene identified in our lab, was found to be upregulated by hypoxia and radiation in a HIF-1-dependent manner.", "output": {"entities": {"gene": [{"text": "NDRG2", "start": 35, "end": 40}], "disease": [{"text": "hypoxia", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Although the majority of Alzheimer' s disease (AD) cases are sporadic, about 5% of cases are inherited in an autosomal dominant pattern as familial AD (FAD) and manifest at an early age.", "output": {"entities": {"gene": [{"text": "FAD", "start": 152, "end": 155}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Contribution of CACNA1A locus has also been studied in the common forms of migraine, migraine with (MA) and without aura (MO), but the results have been contradictory.", "output": {"entities": {"gene": [{"text": "CACNA1A", "start": 16, "end": 23}], "disease": [{"text": "aura", "start": 116, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The frequency of autoantibodies in the three myositis subgroups mirrored the frequency of DR4.", "output": {"entities": {"gene": [{"text": "DR4", "start": 90, "end": 93}], "disease": [{"text": "myositis", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Our studies reveal an unforeseen extranuclear function for Ezh2 in regulating adhesion dynamics, with implications for leukocyte migration, immune responses and potentially pathogenic processes.", "output": {"entities": {"gene": [{"text": "Ezh2", "start": 59, "end": 63}], "disease": [{"text": "adhesion", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that resveratrol inhibits the TRIF-dependent pathway through upregulation of SARM post-RSV infection.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 45, "end": 49}], "disease": [{"text": "RSV infection", "start": 102, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIF", "start": 45, "end": 49}, "tail": {"text": "RSV infection", "start": 102, "end": 115}}]}}, "schema": []}
{"input": "Therefore, in this study, we analyzed the risk of ESCC associated with tobacco and alcohol consumption and with polymorphisms of CYP2A6 (CYP2A6 * 2), CYP2E1 (CYP2E1 * 5B, CYP2E1 * 6), GSTP1 (Ile105Val), GSTM1 and GSTT1 null genotypes in 126 cases and 252 age-and gender-matched controls.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 184, "end": 189}], "disease": [{"text": "alcohol consumption", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In this review we discuss the multiple functions of p53 and how these correlate between cancer and neurodegeneration, focusing on various factors that may have a role in regulating p53 activity.", "output": {"entities": {"gene": [{"text": "p53", "start": 52, "end": 55}], "disease": [{"text": "neurodegeneration", "start": 99, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Morphological studies included analysis of growth pattern, cell proliferation (Ki-67/MIB1 expression) and parameters of intra-and peri-tumoral remodelling (inflammation, fibrosis and necrosis).", "output": {"entities": {"gene": [{"text": "MIB1", "start": 85, "end": 89}], "disease": [{"text": "fibrosis", "start": 170, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p & #8201; & lt; & #8201; 10 (-3) using single trait analysis and AD.", "output": {"entities": {"gene": [{"text": "STON2", "start": 67, "end": 72}], "disease": [{"text": "AD", "start": 201, "end": 203}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STON2", "start": 67, "end": 72}, "tail": {"text": "AD", "start": 201, "end": 203}}]}}, "schema": []}
{"input": "The BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 177, "end": 181}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "STXBP1 was screened in a multicenter cohort of 52 patients with early onset epilepsy (first seizure observed before the age of 3 months), no cortical malformation on brain magnetic resonance imaging (MRI), and negative metabolic screening.", "output": {"entities": {"gene": [{"text": "MRI", "start": 200, "end": 203}], "disease": [{"text": "epilepsy", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Despite this significance, mechanisms that regulate ALCAM gene expression and ALCAM' s role in adhesion of pre-metastatic circulating tumor cells have not been defined.", "output": {"entities": {"gene": [{"text": "ALCAM' s", "start": 78, "end": 86}], "disease": [{"text": "adhesion", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Downregulation of ALOX5 expression in myocardial tissue by 19% (P < 0. 05) resulted in a 3. 8-fold reduction of infarct size in an open chest rat model of heart IR (P < 0. 05).", "output": {"entities": {"gene": [{"text": "ALOX5", "start": 18, "end": 23}], "disease": [{"text": "infarct", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Of the astrocytoma associated hypermethylated genes, the methylation pattern of the CDH13, cyclin a1, DBCCR1, EPO, MYOD1, and p16INK4a genes changed in no more than 5. 66% (3/53) of astrocytoma tissues compared to non-astrocytoma controls, while the RASSF1A, p73, AR, MGMT, CDH1, OCT6, MT1A, WT1, and IRF7 genes were more frequently hypermethylated in 69. 8%, 47. 2%, 41. 5%, 35. 8%, 32%, 30. 2%, 30. 2%, 30. 2% and 26. 4% of astrocytoma tissues, respectively.", "output": {"entities": {"gene": [{"text": "cyclin a1", "start": 91, "end": 100}], "disease": [{"text": "astrocytoma", "start": 7, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "However, the first change induced by PA was the change of podocin localization from a linear pattern to a dot-like one prior to the onset of albuminuria.", "output": {"entities": {"gene": [{"text": "podocin", "start": 58, "end": 65}], "disease": [{"text": "albuminuria", "start": 141, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "podocin", "start": 58, "end": 65}, "tail": {"text": "albuminuria", "start": 141, "end": 152}}]}}, "schema": []}
{"input": "To determine if functional polymorphisms of folate/homocysteine pathway enzymes are associated with homocysteine concentrations and/or coronary artery calcification (CAC) scores in patients with systemic lupus erythematosus (SLE) and controls.", "output": {"entities": {"gene": [{"text": "CAC", "start": 166, "end": 169}], "disease": [{"text": "coronary artery calcification", "start": 135, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, an effect of GSTO1 rs4925 on the age-at-onset (AAO) of AD was found in different studies on sporadic and familial AD cases, but with contrasting findings.", "output": {"entities": {"gene": [{"text": "GSTO1", "start": 26, "end": 31}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "LMW-E/CDK2 deregulates acinar morphogenesis, induces tumorigenesis, and associates with the activated b-Raf-ERK1/2-mTOR pathway in breast cancer patients.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 108, "end": 112}], "disease": [{"text": "tumorigenesis", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Five of these genes (CDKN1A, GADD45A, PMP22, BEX2, CGREF1, CYR61), were associated with cell cycle arrest and growth regulation and had been previously identified in studies relating muscle wasting and ageing.", "output": {"entities": {"gene": [{"text": "CGREF1", "start": 51, "end": 57}], "disease": [{"text": "muscle wasting", "start": 183, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Our results strongly support previously reported association studies, implicating GRID1 in the etiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "GRID1", "start": 82, "end": 87}], "disease": [{"text": "schizophrenia", "start": 107, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRID1", "start": 82, "end": 87}, "tail": {"text": "schizophrenia", "start": 107, "end": 120}}]}}, "schema": []}
{"input": "Both SSTR2B and SSTR4 immunoreactivities were increased within microglia following SE.", "output": {"entities": {"gene": [{"text": "SSTR4", "start": 16, "end": 21}], "disease": [{"text": "SE", "start": 83, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SSTR4", "start": 16, "end": 21}, "tail": {"text": "SE", "start": 83, "end": 85}}]}}, "schema": []}
{"input": "Utility of neutrophil Fcγ receptor I (CD64) index as a biomarker for mucosal inflammation in pediatric Crohn' s disease.", "output": {"entities": {"gene": [{"text": "CD64", "start": 38, "end": 42}], "disease": [{"text": "mucosal inflammation", "start": 69, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "High levels of Nrf2 determine chemoresistance in type II endometrial cancer.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 15, "end": 19}], "disease": [{"text": "endometrial cancer", "start": 57, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nrf2", "start": 15, "end": 19}, "tail": {"text": "endometrial cancer", "start": 57, "end": 75}}]}}, "schema": []}
{"input": "Sequence analysis of the GRXCR1 gene in hearing-impaired family members revealed splice-site mutations in two Dutch families and a missense and nonsense mutation, respectively, in two Pakistani families.", "output": {"entities": {"gene": [{"text": "GRXCR1", "start": 25, "end": 31}], "disease": [{"text": "hearing-impaired", "start": 40, "end": 56}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRXCR1", "start": 25, "end": 31}, "tail": {"text": "hearing-impaired", "start": 40, "end": 56}}]}}, "schema": []}
{"input": "In summary, our study identified RhoE as a novel prognostic biomarker and metastatic-promoting gene of gastric cancer.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 33, "end": 37}], "disease": [{"text": "gastric cancer", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Using the hypoxia response element of the human EPO enhancer, we conducted electrophoretic mobility shift assays that showed accumulation and binding of HIF-1 complexes containing both ARNT1 and ARNT2 in NB cells.", "output": {"entities": {"gene": [{"text": "ARNT2", "start": 195, "end": 200}], "disease": [{"text": "hypoxia", "start": 10, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "We delineate syndromic CSD as a distinct disease entity caused by SPINT2 loss-of-function mutations.", "output": {"entities": {"gene": [{"text": "SPINT2", "start": 66, "end": 72}], "disease": [{"text": "CSD", "start": 23, "end": 26}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPINT2", "start": 66, "end": 72}, "tail": {"text": "CSD", "start": 23, "end": 26}}]}}, "schema": []}
{"input": "The ELISA, using recombinant MDA-5 protein as the antigen, showed an analytical sensitivity of 85% and analytical specificity of 100%, in comparison with the \" gold standard \" immunoprecipitation assay, and was useful for identifying patients with C-ADM and/or rapidly progressive ILD.", "output": {"entities": {"gene": [{"text": "ADM", "start": 250, "end": 253}], "disease": [{"text": "rapidly progressive", "start": 261, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these studies showed that ET-1-mediated MIP-1β gene expression is regulated via hypoxia-response elements, AP-1, and NF-κB cis-binding elements in its promoter and negatively regulated by microRNA-195, which targets the 3' untranslated region of MIP-1β RNA.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 123, "end": 127}], "disease": [{"text": "hypoxia", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "The proinflammatory, prooncogenic protein cyclooxygenase (COX)-2 has been shown to be markedly induced in the Apcdelta716 polyps at an early stage of polyp development (M. Oshima et al., Cell, 87: 803-809, 1996).", "output": {"entities": {"gene": [{"text": "COX", "start": 58, "end": 61}], "disease": [{"text": "polyp", "start": 122, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Importantly, hypoxia regulated expression of alarmin receptors such as the receptor for advanced glycation end products (RAGE) and the purinoreceptor (P2X7R), and up-regulated inflammatory response (IR) genes such as the inducible enzymes nitric oxide synthase (NOS2), cycloxygenase (COX2), and the acute-phase protein pentraxin-3 (PTX3).", "output": {"entities": {"gene": [{"text": "NOS2", "start": 262, "end": 266}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "We report the results of a long-term follow-up of one patient presenting severe bradycardia and cardiomyopathy at birth, diagnosed in the third day of life and successfully treated by ERT.", "output": {"entities": {"gene": [{"text": "ERT", "start": 184, "end": 187}], "disease": [{"text": "cardiomyopathy", "start": 96, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Fourteen markers were genotyped within two alcohol metabolism genes [Alcohol dehydrogenase (ADH) gene clusters (ADH1B and ADH1C) and Aldehyde dehydrogenase (ALDH2)], one microsomal ethanol oxidizing enzyme cytochrome p450 (CYP2E1) and three oxidative stress response (OSR) genes (MnSOD, GSTT1 and GSTM1) among 490 Bengali individuals (322 ALD and 168 control) from Eastern and North-Eastern India and validation was performed in a new cohort of 150 Bengali patients including 100 ALD and 50 advanced non-alcoholic steatohepatitis (NASH).", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 297, "end": 302}], "disease": [{"text": "alcoholic steatohepatitis", "start": 504, "end": 529}]}, "relations": {}}, "schema": []}
{"input": "In the present study we chose to investigate 7 genes involved in the synthesis, degradation and transportation of RA, ALDH1A1, ALDH1A2, ALDH1A3, CYP26A1, CYP26B1, CYP26C1 and Transthyretin (TTR), for their roles in the development of schizophrenia.", "output": {"entities": {"gene": [{"text": "ALDH1A2", "start": 127, "end": 134}], "disease": [{"text": "schizophrenia", "start": 234, "end": 247}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ALDH1A2", "start": 127, "end": 134}, "tail": {"text": "schizophrenia", "start": 234, "end": 247}}]}}, "schema": []}
{"input": "An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.", "output": {"entities": {"gene": [{"text": "ACT1", "start": 3, "end": 7}], "disease": [{"text": "chronic mucocutaneous candidiasis", "start": 79, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ACT1", "start": 3, "end": 7}, "tail": {"text": "chronic mucocutaneous candidiasis", "start": 79, "end": 112}}]}}, "schema": []}
{"input": "RIP-B7. 1 mice expressing the costimulator molecule B7. 1 (CD80) on pancreatic beta-cells are a well established model to characterize preproinsulin-specific CD8 T-cell responses and experimental autoimmune diabetes (EAD).", "output": {"entities": {"gene": [{"text": "CD8", "start": 59, "end": 62}], "disease": [{"text": "autoimmune diabetes", "start": 196, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "T-helper 1 and 17 (Th1/Th17) responses are important in inflammatory bowel disease (IBD), and research indicates that Toll-like receptor 6 (TLR6) stimulation leads to Th17 cell development within the lung.", "output": {"entities": {"gene": [{"text": "Th1", "start": 19, "end": 22}], "disease": [{"text": "inflammatory bowel disease", "start": 56, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.", "output": {"entities": {"gene": [{"text": "down-regulated in adenoma", "start": 68, "end": 93}], "disease": [{"text": "congenital chloride diarrhea", "start": 39, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "down-regulated in adenoma", "start": 68, "end": 93}, "tail": {"text": "congenital chloride diarrhea", "start": 39, "end": 67}}]}}, "schema": []}
{"input": "To investigate whether the reported association between SLC11A1 (also NRAMP1) polymorphisms and susceptibility to tuberculosis (TB) can be confirmed in a different population, and whether polymorphisms in SLC11A2 (also NRAMP2, DCT1, DMT1) are associated with TB.", "output": {"entities": {"gene": [{"text": "DMT1", "start": 233, "end": 237}], "disease": [{"text": "susceptibility to tuberculosis", "start": 96, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We here report that the prevalent TRB3 missense Q84R polymorphism is significantly (P < 0. 05) associated with several insulin resistance-related abnormalities in two independent cohorts (n = 178 and n = 605) of nondiabetic individuals and with the presence of a cluster of insulin resistance-related cardiovascular risk factors in 716 type 2 diabetic patients (OR 3. 1 [95% CI 1. 2-8. 2], P = 0. 02).", "output": {"entities": {"gene": [{"text": "TRB3", "start": 34, "end": 38}], "disease": [{"text": "abnormalities", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "This still-experimental intervention requires a close monitoring of patients' plasma viremia and CD4 (+)-T-cell counts during the treatment interruption phase.", "output": {"entities": {"gene": [{"text": "CD4", "start": 97, "end": 100}], "disease": [{"text": "viremia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "PMP22 +/-mice developed only mild conduction slowing at an old age and a mild reduction of the M-amplitude, which indicates mild axonal dysfunction.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 0, "end": 5}], "disease": [{"text": "mild", "start": 29, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "The myophosphorylase gene has been sequenced and assigned to chromosome 11, but the molecular basis of McArdle' s disease is not known.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 4, "end": 20}], "disease": [{"text": "McArdle' s disease", "start": 103, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 4, "end": 20}, "tail": {"text": "McArdle' s disease", "start": 103, "end": 121}}]}}, "schema": []}
{"input": "We identified a 3-megabase region on human chromosome 21 containing 6 candidate genes associated with herpes simplex labialis (HSL, \" cold sores \").", "output": {"entities": {"gene": [{"text": "HSL", "start": 127, "end": 130}], "disease": [{"text": "cold sores", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Immunohistological and pathological studies were performed to evaluate allograft adventitial inflammation, arteriosclerosis, and expression of proliferating cell nuclear antigen (PCNA).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 179, "end": 183}], "disease": [{"text": "inflammation", "start": 93, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "To explore the time sequence in acquisition of MSI, and the role it plays during tumor progression in sporadic CRC, we compared the incidence of MSI in tissue samples from 40 Dukes'-B and 30 Dukes'-D CRC patients with liver metastases, at 4 different microsatellite loci, representing sites on the APC, DCC and p53 genes respectively as well as the D2S123 site.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 311, "end": 320}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Saccade latency discriminated PMGC from NGC, whereas saccade disinhibition discriminated PMGC from HD patients.", "output": {"entities": {"gene": [{"text": "NGC", "start": 40, "end": 43}], "disease": [{"text": "disinhibition", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Genomic DNA from 106 normotensive individuals (117. 4 ± 13. 1, 75. 2 ± 10. 5; systolic blood pressure (SBP) and diastolic blood pressure (DBP) levels, respectively) and 101 hypertensive subjects (152. 3 ± 18. 0, 92. 5 ± 11. 6; SBP and DBP levels, respectively) were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing methods for these polymorphisms.", "output": {"entities": {"gene": [{"text": "DBP", "start": 138, "end": 141}], "disease": [{"text": "systolic blood pressure", "start": 78, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "To correlate the expression of matrix metalloproteinases (MMPs) with melanoma-associated spongiform scleropathy (MASS) and scleral tumor invasion in eyes with uveal melanoma.", "output": {"entities": {"gene": [{"text": "MASS", "start": 113, "end": 117}], "disease": [{"text": "uveal melanoma", "start": 159, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Concentrations of NT-4/5 and CGRP were correlated in infants with autism but not in Down syndrome or controls.", "output": {"entities": {"gene": [{"text": "NT-4/5", "start": 18, "end": 24}], "disease": [{"text": "autism", "start": 66, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NT-4/5", "start": 18, "end": 24}, "tail": {"text": "autism", "start": 66, "end": 72}}]}}, "schema": []}
{"input": "After eight weeks, pravastatin significantly prevented atherosclerotic lesion and reduced levels of IL-6 in serum and lesion, and significantly decreased expressions of phosphorylated STAT3 (pSTAT3) and increased suppressor of cytokine signaling 3 (SOCS3) expressions in lesions.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 249, "end": 254}], "disease": [{"text": "atherosclerotic lesion", "start": 55, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "This difference persisted after adjustment for body mass index (BMI) and after exclusion of patients with a condition known to increase SHBG levels.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 136, "end": 140}], "disease": [{"text": "body mass index", "start": 47, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Our work shows that TFAP2B has a role in ductal, facial and limb development and suggests that Char syndrome results from derangement of neural-crest-cell derivatives.", "output": {"entities": {"gene": [{"text": "TFAP2B", "start": 20, "end": 26}], "disease": [{"text": "Char syndrome", "start": 95, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TFAP2B", "start": 20, "end": 26}, "tail": {"text": "Char syndrome", "start": 95, "end": 108}}]}}, "schema": []}
{"input": "Promoter methylation of ITF2, but not APC, is associated with microsatellite instability in two populations of colorectal cancer patients.", "output": {"entities": {"gene": [{"text": "ITF2", "start": 24, "end": 28}], "disease": [{"text": "microsatellite instability", "start": 62, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The WAVE3 transcript is mainly expressed in the nervous system and, like all the members of the WASP gene family, WAVE3 is a key element in actin polymerization and cytoskeleton organization.", "output": {"entities": {"gene": [{"text": "WASP", "start": 96, "end": 100}], "disease": [{"text": "nervous system", "start": 48, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Human CNT1 was not detected in 33% and 39% of the ovarian and uterine cervix carcinomas, respectively, whereas hENT1 and hENT2 expression was significantly retained in a high percentage of tumors (91% and 96% for hENT1, 84% and 98% for hENT2, in ovarian and cervix carcinomas, respectively).", "output": {"entities": {"gene": [{"text": "CNT1", "start": 6, "end": 10}], "disease": [{"text": "carcinomas", "start": 77, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Combination treatment with MAb C225 and oligonucleotide HYB 190 caused regression of ACHN tumor xenografts, whereas single-agent treatment only delayed tumor growth.", "output": {"entities": {"gene": [{"text": "ACHN", "start": 85, "end": 89}], "disease": [{"text": "regression", "start": 71, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Early postnatal hyperkalemia, sometimes severe, may complicate antenatal BS associated with ROMK mutations.", "output": {"entities": {"gene": [{"text": "ROMK", "start": 92, "end": 96}], "disease": [{"text": "hyperkalemia", "start": 16, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 176, "end": 182}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 341, "end": 371}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 176, "end": 182}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 341, "end": 371}}]}}, "schema": []}
{"input": "Potentially functional V (H) genes were amplified from 6/12 of the tumour masses and all of these were derived from the V (H) 3 family, with 4/6 being derived from the most commonly used V (H) 3 family member, V3-23.", "output": {"entities": {"gene": [{"text": "V3-23", "start": 210, "end": 215}], "disease": [{"text": "tumour", "start": 67, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Moreover, a different homozygous deletion of the CTRC locus was found in an unrelated patient with asymptomatic chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "CTRC", "start": 49, "end": 53}], "disease": [{"text": "asymptomatic", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Follistatin expression was also observed in cell lines derived from human hepatocellular carcinomas.", "output": {"entities": {"gene": [{"text": "Follistatin", "start": 0, "end": 11}], "disease": [{"text": "hepatocellular carcinomas", "start": 74, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Follistatin", "start": 0, "end": 11}, "tail": {"text": "hepatocellular carcinomas", "start": 74, "end": 99}}]}}, "schema": []}
{"input": "A small percentage of female patients with a DS-like phenotype might carry PCDH19 mutations.", "output": {"entities": {"gene": [{"text": "PCDH19", "start": 75, "end": 81}], "disease": [{"text": "DS", "start": 45, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PCDH19", "start": 75, "end": 81}, "tail": {"text": "DS", "start": 45, "end": 47}}]}}, "schema": []}
{"input": "Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease.", "output": {"entities": {"gene": [{"text": "latency-associated peptide", "start": 63, "end": 89}], "disease": [{"text": "Camurati-Engelmann disease", "start": 135, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "latency-associated peptide", "start": 63, "end": 89}, "tail": {"text": "Camurati-Engelmann disease", "start": 135, "end": 161}}]}}, "schema": []}
{"input": "p16INK4A sensitizes human leukemia cells to FAS-and glucocorticoid-induced apoptosis via induction of BBC3/Puma and repression of MCL1 and BCL2.", "output": {"entities": {"gene": [{"text": "BBC3", "start": 102, "end": 106}], "disease": [{"text": "leukemia", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Adie' s pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 128, "end": 131}], "disease": [{"text": "deafness", "start": 18, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "These findings are consistent with the view that RHBDF1 is a critical component of a molecular switch that regulates HIF1α stability in cancer cells in hypoxia and that RHBDF1 is of potential value as a new target for cancer treatment.", "output": {"entities": {"gene": [{"text": "RHBDF1", "start": 49, "end": 55}], "disease": [{"text": "hypoxia", "start": 152, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "This study examined nociceptive responding to mechanical and thermal stimuli prior to and following L5-L6 spinal nerve ligation (SNL), a model of neuropathic pain, in the olfactory bulbectomized (OB) rat model of depression.", "output": {"entities": {"gene": [{"text": "SNL", "start": 129, "end": 132}], "disease": [{"text": "depression", "start": 213, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "We have identified four novel mutations in the MEN1 gene in patients with MEN1 in Taiwan.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 47, "end": 51}], "disease": [{"text": "MEN1", "start": 74, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 47, "end": 51}, "tail": {"text": "MEN1", "start": 74, "end": 78}}]}}, "schema": []}
{"input": "However, patients with PWS carrying a d3 allele had significantly greater height standard deviation scores (SDS) (P = 0. 025) and higher insulin-like growth factor I (IGF-I) level (P = 0. 041), although the age at the start of GH therapy, weight, BMI, and body fat were not different.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 167, "end": 172}], "disease": [{"text": "weight", "start": 239, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.", "output": {"entities": {"gene": [{"text": "connexin 40", "start": 89, "end": 100}], "disease": [{"text": "atrial standstill", "start": 11, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Male TPL2KO and wild-type (WT) littermates were fed a low-fat diet or a high-fat diet to investigate the effect of TPL2 deletion on obesity, inflammation, and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "TPL2", "start": 5, "end": 9}], "disease": [{"text": "insulin sensitivity", "start": 159, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Interaction effect of serum 25-hydroxyvitamin D levels and CYP1A1, CYP1B1 polymorphisms on blood pressure in an elderly population.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 67, "end": 73}], "disease": [{"text": "blood pressure", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Menin mutations in MEN1 patients.", "output": {"entities": {"gene": [{"text": "Menin", "start": 0, "end": 5}], "disease": [{"text": "MEN1", "start": 19, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Menin", "start": 0, "end": 5}, "tail": {"text": "MEN1", "start": 19, "end": 23}}]}}, "schema": []}
{"input": "The purpose of this study was to evaluate if the life styles such as drinking and smoking and the genetic variations of alcohol-metabolizing enzymes (ADH2, ALDH2, CYP2E1, and CAT) were associated with the immunological biomarkers.", "output": {"entities": {"gene": [{"text": "CAT", "start": 175, "end": 178}], "disease": [{"text": "drinking", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Thus, XRCC2 acts late in the FA-BRCA pathway as also suggested by hypersensitivity of 900677A cells to ionising radiation.", "output": {"entities": {"gene": [{"text": "XRCC2", "start": 6, "end": 11}], "disease": [{"text": "FA", "start": 29, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "XRCC2", "start": 6, "end": 11}, "tail": {"text": "FA", "start": 29, "end": 31}}]}}, "schema": []}
{"input": "The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 376, "end": 380}], "disease": [{"text": "focal segmental glomerulosclerosis", "start": 46, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Leber congenital amaurosis, caused by mutations in RPE65 and LRAT, is a severe form of inherited retinal degeneration leading to blindness.", "output": {"entities": {"gene": [{"text": "LRAT", "start": 61, "end": 65}], "disease": [{"text": "retinal degeneration", "start": 97, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Several studies have reported on the occurrence of JAK2 (V617F) in approximately 50% of patients with essential thrombocythemia and its presence has been associated with advanced age at diagnosis, higher hemoglobin and leukocyte levels, and increased rate of polycythemic transformation.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 51, "end": 55}], "disease": [{"text": "hemoglobin", "start": 204, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "The Hodgkin and Reed/Sternberg cell-expressed epigenetic regulators KDM4C and PCGF2, as well as the phosphatase DUSP1 were partially induced in hypoxic B cells.", "output": {"entities": {"gene": [{"text": "PCGF2", "start": 78, "end": 83}], "disease": [{"text": "hypoxic", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this investigation was to test the genetic association between the RANTES-28C/G and-403G/A polymorphisms and asthma/atopy in a cohort of Chinese children, with particular emphasis on those patients who had experienced life-threatening asthma attacks.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 82, "end": 88}], "disease": [{"text": "atopy", "start": 131, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We tested the association between polymorphisms and haplotypes of the renin gene and the risk of hypertension and blood pressure levels in two Spanish populations.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 70, "end": 80}], "disease": [{"text": "blood pressure", "start": 114, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Expression of UCP2, UCP3S, and UCP3L mRNA in skeletal muscle was similar in lean individuals and in individuals with obesity at stable weight.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 14, "end": 18}], "disease": [{"text": "weight", "start": 135, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Dominant mutations in desmocollin-2 (DSC2) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular tachyarrhythmias, heart failure, and risk of juvenile sudden death.", "output": {"entities": {"gene": [{"text": "DSC2", "start": 37, "end": 41}], "disease": [{"text": "sudden death", "start": 209, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Ghrelin is an upstream regulator of the orexigenic peptides NPY and AgRP and acts as a natural antagonist to leptin' s effects on NPY/AgRP-expressing neurons, resulting in an increase in feeding and body weight.", "output": {"entities": {"gene": [{"text": "leptin' s", "start": 109, "end": 118}], "disease": [{"text": "body weight", "start": 199, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: The mRNA expressions of Notch1, Notch3, Jagged1, and Jagged2 were detected in Tca8113, tongue carcinoma, and adjacent non-neoplastic tongue tissues.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 33, "end": 39}], "disease": [{"text": "non-neoplastic", "start": 127, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Substantial evidence now suggests that alcohol targets Kir2. 1 to cause the birth defects associated with FASD.", "output": {"entities": {"gene": [{"text": "Kir2. 1", "start": 55, "end": 62}], "disease": [{"text": "birth defects", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The most common (≥ 20%) adverse reactions were skin reactions, increased aspartate and alanine aminotransferase, proteinuria, and diarrhea.", "output": {"entities": {"gene": [{"text": "alanine aminotransferase", "start": 87, "end": 111}], "disease": [{"text": "proteinuria", "start": 113, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Many abnormalities in the surrounding lung associated with field carcinogenesis, which reflect prolonged exposure to such carcinogens as tobacco smoke, also revealed altered expression of CC10.", "output": {"entities": {"gene": [{"text": "CC10", "start": 188, "end": 192}], "disease": [{"text": "abnormalities", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation.", "output": {"entities": {"gene": [{"text": "MIM", "start": 26, "end": 29}], "disease": [{"text": "sex reversal", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "We showed that miR-23b suppresses PRDX3 protein expression in human DU145 cells under normal and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "PRDX3", "start": 34, "end": 39}], "disease": [{"text": "hypoxic", "start": 97, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We mapped a previously unknown susceptibility locus to 2q37. 1 and identified germline mutations in DIS3L2, a homolog of the Schizosaccharomyces pombe dis3 gene, in individuals with Perlman syndrome.", "output": {"entities": {"gene": [{"text": "DIS3L2", "start": 100, "end": 106}], "disease": [{"text": "Perlman syndrome", "start": 182, "end": 198}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DIS3L2", "start": 100, "end": 106}, "tail": {"text": "Perlman syndrome", "start": 182, "end": 198}}]}}, "schema": []}
{"input": "In this secondary analysis, we defined carriers as women having one or more of the following traits: carrier for FVL mutation, protein C deficiency, protein S deficiency, antithrombin III deficiency, activated protein C resistance, or lupus anticoagulant-positive, heterozygous for prothrombin G20210A or homozygous for the 5, 10 methylenetetrahydrofolate reductase mutations.", "output": {"entities": {"gene": [{"text": "methylenetetrahydrofolate reductase", "start": 330, "end": 365}], "disease": [{"text": "lupus anticoagulant", "start": 235, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis.", "output": {"entities": {"gene": [{"text": "SLC9A3 gene", "start": 25, "end": 36}], "disease": [{"text": "pulmonary function", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "CD4 (+)/Ki67 (+) T cells; plasma LPS; total, naive, and activated Treg; TLR2-expressing and TLR4-expressing Treg; IL-10 production; and early and late apoptotic CD4 T cells, were significantly increased in patients with undetectable viremia and CD4 cell counts less than 500 cells/microl after more than 7 years of ART.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "viremia", "start": 233, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13. 1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21. 2-q21. 3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26).", "output": {"entities": {"gene": [{"text": "MPZ", "start": 253, "end": 256}], "disease": [{"text": "deafness", "start": 406, "end": 414}]}, "relations": {}}, "schema": []}
{"input": "Direct methylation of talin, a key regulatory molecule in cell migration, by Ezh2 disrupted the binding of talin to F-actin and thereby promoted the turnover of adhesion structures.", "output": {"entities": {"gene": [{"text": "Ezh2", "start": 77, "end": 81}], "disease": [{"text": "adhesion", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The 5-HTT protein coded by the SLC6A4 gene has also been implicated in inflammation.", "output": {"entities": {"gene": [{"text": "SLC6A4 gene", "start": 31, "end": 42}], "disease": [{"text": "inflammation", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Total FSH receptor (FSHR) inactivation causes infertility with an early block of follicular maturation remarkably associated with abundant small follicles as in prepubertal ovaries and demonstrates the absolute requirement of FSH for follicular development starting from the primary stage.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 20, "end": 24}], "disease": [{"text": "infertility", "start": 46, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Following a 5-wk high-fat diet challenge, neil1 (-/-) mice gained significantly more body weight than neil1 (+/+) littermates and had increased body fat accumulation and moderate to severe hepatic steatosis.", "output": {"entities": {"gene": [{"text": "neil1", "start": 42, "end": 47}], "disease": [{"text": "body weight", "start": 85, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle' s disease.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 33, "end": 49}], "disease": [{"text": "McArdle' s disease", "start": 81, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 33, "end": 49}, "tail": {"text": "McArdle' s disease", "start": 81, "end": 99}}]}}, "schema": []}
{"input": "The data formally establish the homogentisate 1, 2 dioxygenase gene (HGD) as the molecular cause of alkaptonuria and allow for the development of molecular carrier tests in populations at risk.", "output": {"entities": {"gene": [{"text": "homogentisate 1, 2 dioxygenase", "start": 32, "end": 62}], "disease": [{"text": "alkaptonuria", "start": 100, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "homogentisate 1, 2 dioxygenase", "start": 32, "end": 62}, "tail": {"text": "alkaptonuria", "start": 100, "end": 112}}]}}, "schema": []}
{"input": "Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.", "output": {"entities": {"gene": [{"text": "FARSB", "start": 17, "end": 22}], "disease": [{"text": "brain calcification", "start": 100, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FARSB", "start": 17, "end": 22}, "tail": {"text": "brain calcification", "start": 100, "end": 119}}]}}, "schema": []}
{"input": "We report here a rare case of mandibular ES in a 10-year-old child with chromosomal translocation t (21; 22) (q22; q12) in which the EWS gene is fused with the ERG gene on chromosome 21.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 133, "end": 141}], "disease": [{"text": "chromosomal translocation", "start": 72, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of Stat3 signaling in Gprc5a (-/-) normal and cancer cells by the Janus-activated kinase 2 inhibitor AG490 or by a dominant negative Stat3 (Y705F) increased starvation-induced apoptosis and inhibited colony formation.", "output": {"entities": {"gene": [{"text": "Gprc5a", "start": 33, "end": 39}], "disease": [{"text": "starvation", "start": 168, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the efficacy of SAR3419, an antibody-drug conjugate of the maytansinoid DM4 and a humanized anti-CD19 antibody, against B-cell precursor (BCP)-ALL and infant mixed lineage leukemia (MLL) xenografts.", "output": {"entities": {"gene": [{"text": "BCP", "start": 166, "end": 169}], "disease": [{"text": "mixed lineage leukemia", "start": 186, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "In contrast, tumour characteristics of BRCA2-associated BC were similar to those of non-BRCA1/2 and sporadic BC, with the exception of a high risk of CBC (3. 1% per year) and oestrogen-receptor (ER)-positivity (83%).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 39, "end": 44}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Effects of GH were significant for fat accretion and plasma urea depression.", "output": {"entities": {"gene": [{"text": "GH", "start": 11, "end": 13}], "disease": [{"text": "depression", "start": 65, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GH", "start": 11, "end": 13}, "tail": {"text": "depression", "start": 65, "end": 75}}]}}, "schema": []}
{"input": "Therefore, this study provides further evidence suggesting that piccolo, RIMS2, RIMS3, but not the entire components of the active zone are involved in the neurobiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "RIMS2", "start": 73, "end": 78}], "disease": [{"text": "schizophrenia", "start": 172, "end": 185}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RIMS2", "start": 73, "end": 78}, "tail": {"text": "schizophrenia", "start": 172, "end": 185}}]}}, "schema": []}
{"input": "Minocycline increased the survival of CA1 pyramidal neurons from 10. 5% to 77% when the treatment was started 12 h before ischemia and to 71% when the treatment was started 30 min after ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 38, "end": 41}], "disease": [{"text": "ischemia", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "In summary, failure of podocytes to match glomerular tuft growth in response to growth signaling through the mTORC1 pathway can trigger proteinuria, glomerulosclerosis, and progression to ESRD.", "output": {"entities": {"gene": [{"text": "mTORC1", "start": 109, "end": 115}], "disease": [{"text": "proteinuria", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "For example, genes involved in inflammation and matrix proteases and a cell cycle regulator gene, cyclin D2, were highly expressed in colon cancers.", "output": {"entities": {"gene": [{"text": "cyclin D2", "start": 98, "end": 107}], "disease": [{"text": "colon cancers", "start": 134, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cyclin D2", "start": 98, "end": 107}, "tail": {"text": "colon cancers", "start": 134, "end": 147}}]}}, "schema": []}
{"input": "TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.", "output": {"entities": {"gene": [{"text": "Li-Fraumeni syndrome", "start": 89, "end": 109}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "In order to extend the analysis of an involvement of the NF2 gene in the sporadic counterparts of these NF2-related tumors, we have used reverse transcriptase-PCR amplification followed by SSCP and DNA sequence analysis to screen for mutations in the coding region of the NF2 gene.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 57, "end": 65}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Etanercept, a soluble TNF receptor, and TNFR1 deficiency protected against the depression in diaphragm-specific force caused by doxorubicin.", "output": {"entities": {"gene": [{"text": "TNFR1", "start": 40, "end": 45}], "disease": [{"text": "depression", "start": 79, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFR1", "start": 40, "end": 45}, "tail": {"text": "depression", "start": 79, "end": 89}}]}}, "schema": []}
{"input": "Among the enrolled participants (45 from 26 families, 65 sporadic cases), 8 PRRT2 mutations were detected in 20 PKD families (76. 9%) and 14 sporadic cases (21. 5%), accounting for 37. 4% (34/91) of the study population.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 76, "end": 81}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle.", "output": {"entities": {"gene": [{"text": "COX", "start": 167, "end": 170}], "disease": [{"text": "chronic progressive external ophthalmoplegia", "start": 29, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "To observe the effects of cyclic adenosine monophosphate (cAMP) in peripheral lymphocytes on T helper 1 (TH1)/TH2 cytokine ratios and to investigate the potential impact and mechanism of β-adrenergic receptor antagonists on immune function in patients with chronic heart failure (CHF).", "output": {"entities": {"gene": [{"text": "TH1", "start": 105, "end": 108}], "disease": [{"text": "chronic heart failure", "start": 257, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "We describe novel mutations in the EDAR gene in two Pakistani families affected with the autosomal recessive form of HED.", "output": {"entities": {"gene": [{"text": "EDAR", "start": 35, "end": 39}], "disease": [{"text": "HED", "start": 117, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDAR", "start": 35, "end": 39}, "tail": {"text": "HED", "start": 117, "end": 120}}]}}, "schema": []}
{"input": "Down-regulation of AKT1 and AKT2, but not AKT3, induced activation of cell surface β1-integrins and enhanced adhesion, migration, and invasion.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 19, "end": 23}], "disease": [{"text": "adhesion", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "This case report describes two patients with H syndrome, a multisystemic autosomal recessive disorder, caused by mutations in the SLC29A3 gene.", "output": {"entities": {"gene": [{"text": "SLC29A3", "start": 130, "end": 137}], "disease": [{"text": "H syndrome", "start": 45, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC29A3", "start": 130, "end": 137}, "tail": {"text": "H syndrome", "start": 45, "end": 55}}]}}, "schema": []}
{"input": "However, contrary to the expectations, GOAT-knockout (KO) mice have not shown meaningful body weight reduction, under high-fat diet.", "output": {"entities": {"gene": [{"text": "GOAT", "start": 39, "end": 43}], "disease": [{"text": "weight reduction", "start": 94, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "A novel EWS-Fli1 in-frame isoform fusing EWS to exon 8 of Fli1 was isolated from a tumor with a variant t (12; 22; 22) (q14; p1; q12) translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 8, "end": 11}], "disease": [{"text": "translocation", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We further demonstrated that activation of the mammalian target of rapamycin (mTOR) signaling could suppress neurodegeneration of FXTAS.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 47, "end": 76}], "disease": [{"text": "neurodegeneration", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Indirect calorimetry, tetrapolar electrical bioimpedance, blood pressure and serial assessment of nutritional intake with 3-day written food records and biochemical analysis (lipid profile, visfatin, insulin, C-reactive protein and homeostasis model assessment for insulin sensitivity (HOMA)) were performed.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 209, "end": 227}], "disease": [{"text": "insulin sensitivity", "start": 265, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Our study uncovers IL-21 deficiency as a novel cause of early-onset IBD in human subjects accompanied by defects in B-cell development similar to those found in patients with common variable immunodeficiency.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 19, "end": 24}], "disease": [{"text": "common variable immunodeficiency", "start": 175, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "To determine the relative level of expression of RECQL4 in OS, 18 sporadic tumors were studied by reverse transcription-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "RECQL4", "start": 49, "end": 55}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We failed to find an association between either of the Hp alleles and unipolar depression.", "output": {"entities": {"gene": [{"text": "Hp", "start": 55, "end": 57}], "disease": [{"text": "unipolar depression", "start": 70, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hp", "start": 55, "end": 57}, "tail": {"text": "unipolar depression", "start": 70, "end": 89}}]}}, "schema": []}
{"input": "In anti-FRP antibody-positive RA patients, serum C-reactive protein level and erythrocyte sedimentation rate were more elevated than negative patients (P < 0. 05 and P < 0. 01, respectively).", "output": {"entities": {"gene": [{"text": "FRP", "start": 8, "end": 11}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 78, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in Man (MIM) #272200).", "output": {"entities": {"gene": [{"text": "MIM", "start": 168, "end": 171}], "disease": [{"text": "multiple sulfatase deficiency", "start": 107, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the association between bladder cancer risk and functional polymorphisms in the GSTM1, GSTT1, and GPX1 genes in 625 cases and 626 matched population-based controls in Egypt and assessed for potential interactions between these candidate genes and environmental exposures, such as smoking and SH infection.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 111, "end": 115}], "disease": [{"text": "smoking", "start": 293, "end": 300}]}, "relations": {}}, "schema": []}
{"input": "It also increased both MyD88 and non-MyD88 pathways, nuclear factor-κB (NF-κB), biomediators, and monocyte adhesion.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 72, "end": 77}], "disease": [{"text": "adhesion", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Low expression of p27, a cell cycle regulator haplo-insufficient for tumor suppression, predicted poor outcome in indolent and aggressive lymphoma, and overexpression of cyclin D3 was associated with poor prognosis in indolent lymphomas.", "output": {"entities": {"gene": [{"text": "p27", "start": 18, "end": 21}], "disease": [{"text": "aggressive lymphoma", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "For the patients with sporadic disease, using p53 and adenomatous polyposis coli (APC), the sensitivity of the fecal DNA analysis was 96. 7% (95% CI, 83-100) with a specificity of 100%.", "output": {"entities": {"gene": [{"text": "p53", "start": 46, "end": 49}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Our study showed a significant association between LMAN2L and risk of both BPD and SZ.", "output": {"entities": {"gene": [{"text": "LMAN2L", "start": 51, "end": 57}], "disease": [{"text": "SZ", "start": 83, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LMAN2L", "start": 51, "end": 57}, "tail": {"text": "SZ", "start": 83, "end": 85}}]}}, "schema": []}
{"input": "A polymorphism in the EGF gene (EGF + 61) may influence its expression and contribute to cancer predisposition and aggressiveness.", "output": {"entities": {"gene": [{"text": "EGF", "start": 22, "end": 25}], "disease": [{"text": "aggressiveness", "start": 115, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrate that while stress increased NMDA NR2B-mediated synaptic transmission, known to be implicated in depression, Reelin overexpression significantly reduced it.", "output": {"entities": {"gene": [{"text": "Reelin", "start": 136, "end": 142}], "disease": [{"text": "depression", "start": 124, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Reelin", "start": 136, "end": 142}, "tail": {"text": "depression", "start": 124, "end": 134}}]}}, "schema": []}
{"input": "There was no statistically significant difference between BE and EAC, HGD and EAC, or NE and esophageal squamous cell carcinoma (ESCC).", "output": {"entities": {"gene": [{"text": "HGD", "start": 70, "end": 73}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 93, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The results showed that GPNMB was up-regulated after IRI, and that genomic over-expression of GPNMB significantly ameliorated infarct volume.", "output": {"entities": {"gene": [{"text": "GPNMB", "start": 24, "end": 29}], "disease": [{"text": "infarct", "start": 126, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "U-box protein carboxyl terminus of Hsc70-interacting protein (CHIP) mediates poly-ubiquitylation preferentially on four-repeat Tau and is involved in neurodegeneration of tauopathy.", "output": {"entities": {"gene": [{"text": "Hsc70-interacting protein", "start": 35, "end": 60}], "disease": [{"text": "neurodegeneration", "start": 150, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "This is the first time a mutation localized outside of the fukutin coding region has been identified as a cause of WWS.", "output": {"entities": {"gene": [{"text": "fukutin", "start": 59, "end": 66}], "disease": [{"text": "WWS", "start": 115, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fukutin", "start": 59, "end": 66}, "tail": {"text": "WWS", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.", "output": {"entities": {"gene": [{"text": "COL1A1", "start": 226, "end": 232}], "disease": [{"text": "OI type II", "start": 276, "end": 286}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A1", "start": 226, "end": 232}, "tail": {"text": "OI type II", "start": 276, "end": 286}}]}}, "schema": []}
{"input": "Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.", "output": {"entities": {"gene": [{"text": "PDLIM3", "start": 29, "end": 35}], "disease": [{"text": "hypertrophic cardiomyopathy", "start": 62, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDLIM3", "start": 29, "end": 35}, "tail": {"text": "hypertrophic cardiomyopathy", "start": 62, "end": 89}}]}}, "schema": []}
{"input": "Duration and predictors of CD4 T-cell gains in patients who continue combination therapy despite detectable plasma viremia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 27, "end": 30}], "disease": [{"text": "viremia", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, our animal studies revealed significantly reduced area of cold-induced damage in rats receiving siRNA-Int6, compared to negative controls.", "output": {"entities": {"gene": [{"text": "Int6", "start": 115, "end": 119}], "disease": [{"text": "cold", "start": 71, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We found that patients with DLBCL with the worst prognosis, according to the outcome predictor score, had decreased expression of catalase, glutathione peroxidase, manganese superoxide dismutase, and VDUP1, a protein that inhibits thioredoxin activity.", "output": {"entities": {"gene": [{"text": "catalase", "start": 130, "end": 138}], "disease": [{"text": "DLBCL", "start": 28, "end": 33}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "catalase", "start": 130, "end": 138}, "tail": {"text": "DLBCL", "start": 28, "end": 33}}]}}, "schema": []}
{"input": "Our observation of an association between genetic polymorphisms of a protein of the PH domain and psychopathology data in schizophrenic patients might be indicative for an involvement of PLEKHA6 in the pathophysiology of schizophrenia and the therapy response towards antipsychotics.", "output": {"entities": {"gene": [{"text": "PLEKHA6", "start": 187, "end": 194}], "disease": [{"text": "schizophrenia", "start": 221, "end": 234}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLEKHA6", "start": 187, "end": 194}, "tail": {"text": "schizophrenia", "start": 221, "end": 234}}]}}, "schema": []}
{"input": "Extracellular matrix (ECM) deposition by human lung fibroblasts (HLFs) is implicated in airway remodeling.", "output": {"entities": {"gene": [{"text": "ECM", "start": 22, "end": 25}], "disease": [{"text": "airway remodeling", "start": 88, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "As expected, patients with CHD had a worse atherogenic lipoprotein profile (waist-hip ratio, LDL, uric acid, and apolipoprotein B) than the controls.", "output": {"entities": {"gene": [{"text": "apolipoprotein B", "start": 113, "end": 129}], "disease": [{"text": "waist-hip ratio", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "It is possible that increased beta-amyloid deposition arises from alterations in amyloid precursor protein (APP) metabolism, indeed, we have shown that exposing cells of neuronal origin to chronic hypoxia decreased the secretion of soluble APP (sAPPalpha) derived by action of alpha-secretase on APP, coinciding with a decrease in protein levels of ADAM10, a disintegrin metalloprotease which is thought to be the major alpha-secretase.", "output": {"entities": {"gene": [{"text": "APP", "start": 108, "end": 111}], "disease": [{"text": "hypoxia", "start": 197, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "The role of GSTP1 was assessed in 131 workers exposed to TDI, 92 with TDI-induced asthma and 39 asymptomatic subjects.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 12, "end": 17}], "disease": [{"text": "asymptomatic", "start": 96, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Osteoclast formation was enhanced approximately 5-fold (P & lt; 0. 001) and bone resorption approximately 10-fold (P & lt; 0. 001) in CED patients, and the increase in osteoclast formation was inhibited by soluble TGFbeta type II receptor.", "output": {"entities": {"gene": [{"text": "TGFbeta", "start": 214, "end": 221}], "disease": [{"text": "CED", "start": 134, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFbeta", "start": 214, "end": 221}, "tail": {"text": "CED", "start": 134, "end": 137}}]}}, "schema": []}
{"input": "The B-CLL cells in the study were shown to highly express vitamin D receptor, but an additional receptor-independent mechanism of cell killing cannot be ruled out at this stage.", "output": {"entities": {"gene": [{"text": "vitamin D receptor", "start": 58, "end": 76}], "disease": [{"text": "B-CLL", "start": 4, "end": 9}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "vitamin D receptor", "start": 58, "end": 76}, "tail": {"text": "B-CLL", "start": 4, "end": 9}}]}}, "schema": []}
{"input": "This finding appears related to p53 status in that the frequency of p53 expression was significantly reduced in HNPCCs compared to sporadic cases, suggesting a difference in their molecular pathways of tumorigenesis.", "output": {"entities": {"gene": [{"text": "p53", "start": 32, "end": 35}], "disease": [{"text": "sporadic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Moreover, gastric tumor tissues exhibited a much higher syntenin mRNA expression than their normal counterparts.", "output": {"entities": {"gene": [{"text": "syntenin", "start": 56, "end": 64}], "disease": [{"text": "gastric tumor", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The loss of pS2 expression in metaplasia and cancer supports a role for this protein in gastric tumor suppression.", "output": {"entities": {"gene": [{"text": "pS2", "start": 12, "end": 15}], "disease": [{"text": "gastric tumor", "start": 88, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "This study was carried out to evaluate the influence of CYP2D6 polymorphism and smoking on the plasma clearance of haloperidol (HAL) levels, accounting for the antipsychotic dose, body weight, and coadministration of other drugs.", "output": {"entities": {"gene": [{"text": "HAL", "start": 128, "end": 131}], "disease": [{"text": "body weight", "start": 180, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Our results was a previous study, which suggested that DNMT1 gene polymorphisms in exons may provide valuable information for predicting the sporadic IDC risk and may be associated with prognosis factors such as PgR and p53 status in Chinese Han women in the Heilongjiang Province.", "output": {"entities": {"gene": [{"text": "DNMT1 gene", "start": 55, "end": 65}], "disease": [{"text": "sporadic", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "No CD8/MHC-I complex was found in the dermatomyositis or inflammatory muscular dystrophy cases.", "output": {"entities": {"gene": [{"text": "CD8", "start": 3, "end": 6}], "disease": [{"text": "dermatomyositis", "start": 38, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The lower gene expression, which suggested epigenetic silencing of PEG3, was confirmed statistically in glioblastoma using quantitative reverse-transcription polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "PEG3", "start": 67, "end": 71}], "disease": [{"text": "glioblastoma", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In the present study we used NE transporter knock-out mice (NET-KO), which are characterized by high levels of extracellular NE, to investigate the role of endogenous NE in seizure susceptibility.", "output": {"entities": {"gene": [{"text": "NET", "start": 60, "end": 63}], "disease": [{"text": "seizure", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, was also investigated the mRNA expression of neuropeptide Y, a considered antiepileptic neuropeptide, in the pilocarpine-induced epilepsy.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 58, "end": 72}], "disease": [{"text": "epilepsy", "start": 142, "end": 150}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "neuropeptide Y", "start": 58, "end": 72}, "tail": {"text": "epilepsy", "start": 142, "end": 150}}]}}, "schema": []}
{"input": "Abnormalities of E-and P-cadherin and catenin (beta-, gamma-catenin, and p120ctn) expression in endometrial cancer and endometrial atypical hyperplasia.", "output": {"entities": {"gene": [{"text": "P-cadherin", "start": 23, "end": 33}], "disease": [{"text": "endometrial cancer", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "DC treatment significantly inhibited the loss of body weight and the increase of liver weight induced by CCl4.", "output": {"entities": {"gene": [{"text": "CCl4", "start": 105, "end": 109}], "disease": [{"text": "weight", "start": 54, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Such mechanisms may be relevant to sporadic as well as familiar breast cancer where BRCA1 and BRCA2 mutations are not present.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 94, "end": 99}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "There were no differences in age or height between the two groups, but weight (P = 0 · 007) and BMI (P = 0 · 001) were lower in MUT/N.", "output": {"entities": {"gene": [{"text": "MUT", "start": 128, "end": 131}], "disease": [{"text": "weight", "start": 71, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Therefore, constructs expressing the beta (AS3)-globin gene may be suitable for future clinical trials for sickle cell disease.", "output": {"entities": {"gene": [{"text": "AS3", "start": 43, "end": 46}], "disease": [{"text": "sickle cell disease", "start": 107, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "FGF-2 stimulated DU-145 cell proliferation, whereas neither FGF-2 nor fibrinogen affected the growth of PC-3 or A549 cells.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 104, "end": 108}], "disease": [{"text": "fibrinogen", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We have now examined the relationships of 22 candidate gene polymorphisms with the prevalence of hypertension and with blood pressure (BP) in a 6-year population-based longitudinal cohort study and observed significant relationships of three polymorphisms of SORBS1, GCK and WISP1 with hypertension.", "output": {"entities": {"gene": [{"text": "GCK", "start": 267, "end": 270}], "disease": [{"text": "blood pressure", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Reversion was particularly evident for 7 genes: SOCS2, TNFAIP3, NR4A2, CXCR4, POLR2J, FAM49B, and STAG3L1, most of which encode negative regulators of inflammation.", "output": {"entities": {"gene": [{"text": "POLR2J", "start": 78, "end": 84}], "disease": [{"text": "inflammation", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We have screened the entire coding sequence and the intron/exon boundaries of the SLC3A1 gene in 53 cystinuria patients by means of single strand conformation polymorphism (SSCP) and DNA sequencing.", "output": {"entities": {"gene": [{"text": "SLC3A1", "start": 82, "end": 88}], "disease": [{"text": "cystinuria", "start": 100, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC3A1", "start": 82, "end": 88}, "tail": {"text": "cystinuria", "start": 100, "end": 110}}]}}, "schema": []}
{"input": "This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 57, "end": 62}], "disease": [{"text": "Stargardt disease", "start": 143, "end": 160}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA4", "start": 57, "end": 62}, "tail": {"text": "Stargardt disease", "start": 143, "end": 160}}]}}, "schema": []}
{"input": "We report the case of a female suffering from resistant partial seizures, which were related to' cryptogenic' epilepsy, as the cerebral cortex was considered normal on the initial MRI images.", "output": {"entities": {"gene": [{"text": "MRI", "start": 180, "end": 183}], "disease": [{"text": "epilepsy", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Third, a proportion of Sey/+ Smalleye mice, heterozygous for a nonsense mutation in murine Pax-6, have an ocular phenotype resembling Peters' anomaly.", "output": {"entities": {"gene": [{"text": "Pax-6", "start": 91, "end": 96}], "disease": [{"text": "Peters' anomaly", "start": 134, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Pax-6", "start": 91, "end": 96}, "tail": {"text": "Peters' anomaly", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "We have investigated the role of ten polymorphisms in these genes (RLN3 rs12327666, rs1982632, and rs7249702, RLN3R1 rs42868, rs6861957, rs7702361, and rs35399, and RLN3R2 rs11264422, rs1018730 and rs12124383) in the occurrence of metabolic syndrome phenotypes (obesity, diabetes, hypercholesterolemia, hypertrigyceridemia, and hypertension) in a cross-sectional cohort of 419 US Caucasian patients treated with antipsychotic drugs.", "output": {"entities": {"gene": [{"text": "RLN3R2", "start": 165, "end": 171}], "disease": [{"text": "obesity", "start": 262, "end": 269}]}, "relations": {}}, "schema": []}
{"input": "Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK.", "output": {"entities": {"gene": [{"text": "Folliculin", "start": 0, "end": 10}], "disease": [{"text": "enlargement", "start": 34, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Positive immunolabeling for p53 was observed in 57% of the familial pancreatic cancers and loss of SMAD4 labeling was observed in 61% of the familial pancreatic cancers, rates similar to those observed in sporadic pancreatic cancers.", "output": {"entities": {"gene": [{"text": "p53", "start": 28, "end": 31}], "disease": [{"text": "sporadic", "start": 205, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Expressing PDGF-A in neurons under the control of the neuron-specific enolase promoter (NSE-PDGF-A) resulted in a striking hyperplasia of retinal astrocytes, demonstrating that PDGF is secreted from the cell bodies of neurons in the retina [4].", "output": {"entities": {"gene": [{"text": "NSE", "start": 88, "end": 91}], "disease": [{"text": "hyperplasia", "start": 123, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "True common mutations were identified neither in GSD Ia nor in GSD I non-a patients.", "output": {"entities": {"gene": [{"text": "GSD I", "start": 49, "end": 54}], "disease": [{"text": "GSD Ia", "start": 49, "end": 55}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GSD I", "start": 49, "end": 54}, "tail": {"text": "GSD Ia", "start": 49, "end": 55}}]}}, "schema": []}
{"input": "We explore existing guidelines, public attitudes and possible objections to providing PND for minor abnormalities.", "output": {"entities": {"gene": [{"text": "PND", "start": 86, "end": 89}], "disease": [{"text": "abnormalities", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the genes encoding PTEN-induced kinase 1 (PINK1), Omi/HtrA2 and parkin contribute to rare forms of parkinsonian neurodegeneration.", "output": {"entities": {"gene": [{"text": "HtrA2", "start": 67, "end": 72}], "disease": [{"text": "neurodegeneration", "start": 125, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We also confirm the recent report of hypertrophy of the clava (also known as the' gracile tubercle') as a useful MRI sign in INAD.", "output": {"entities": {"gene": [{"text": "MRI", "start": 113, "end": 116}], "disease": [{"text": "hypertrophy", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, these results implicate the ET-1/ECE-1/ERK1/2 pathway as a therapeutic target to treat pruritus in humans.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 52, "end": 56}], "disease": [{"text": "pruritus", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "The positive rate of LIT1, IGF2 and H19 LOI of gastric cancer tissues were 54. 6% (12/22), 45% (18/40) and 8. 6% (3/32) in Chinese patients.", "output": {"entities": {"gene": [{"text": "LIT1", "start": 21, "end": 25}], "disease": [{"text": "gastric cancer", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "However, emerging data now highlight that ALK-ALCL is genetically and clinically heterogeneous with a subset having either a DUSP22 translocation and a survival rate similar to ALK + ALCL or a less common P63 translocation, the latter associated with an aggressive course.", "output": {"entities": {"gene": [{"text": "P63", "start": 205, "end": 208}], "disease": [{"text": "translocation", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Elevated levels of estrogen and heightened expression of the WNT10B proto-oncogene have been implicated in the development of human malignant breast tumors because they enhance the proliferation of mammary tissue.", "output": {"entities": {"gene": [{"text": "WNT10B", "start": 61, "end": 67}], "disease": [{"text": "breast tumors", "start": 142, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WNT10B", "start": 61, "end": 67}, "tail": {"text": "breast tumors", "start": 142, "end": 155}}]}}, "schema": []}
{"input": "Therefore the aim of this study was to investigate the effects of Endokinin A/B (EKA/B, the common C-terminal decapeptide in EKA and EKB) and Endokinin C/D (EKC/D, the common C-terminal duodecapeptide in EKC and EKD) on pain modulation at supraspinal level in mice.", "output": {"entities": {"gene": [{"text": "EKB", "start": 133, "end": 136}], "disease": [{"text": "pain", "start": 220, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "In patients with heart failure, subjects with Ile-164 showed further severe reduction of beta2-adrenergic-mediated increase in Sm as compared with controls with heart failure (Delta20% (5%) vs Delta39% (4%), p < 0. 05).", "output": {"entities": {"gene": [{"text": "beta2", "start": 89, "end": 94}], "disease": [{"text": "heart failure", "start": 17, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Elp3 genetic ablation strongly impaired invasion and metastasis formation in the PyMT model of invasive breast cancer.", "output": {"entities": {"gene": [{"text": "Elp3", "start": 0, "end": 4}], "disease": [{"text": "metastasis", "start": 53, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Elp3", "start": 0, "end": 4}, "tail": {"text": "metastasis", "start": 53, "end": 63}}]}}, "schema": []}
{"input": "Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "ED1", "start": 27, "end": 30}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 71, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ED1", "start": 27, "end": 30}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 71, "end": 104}}]}}, "schema": []}
{"input": "Moreover, the significant higher levels of XIST-RNA detected in BRCA1-associated respect to sporadic basal-like cancers, opens the possibility to use XIST expression as a marker to discriminate between the two groups of tumors.", "output": {"entities": {"gene": [{"text": "XIST", "start": 43, "end": 47}], "disease": [{"text": "sporadic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We now report that AE2 overexpression in colon cancer cells is correlated with expression of the nuclear proliferation marker, Ki67.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 127, "end": 131}], "disease": [{"text": "colon cancer", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the preventing effect of Q3GA on Ang II-induced VSMC hypertrophy is attributable in part to its inhibitory effect on JNK and the AP-1 signaling pathway.", "output": {"entities": {"gene": [{"text": "JNK", "start": 145, "end": 148}], "disease": [{"text": "hypertrophy", "start": 81, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Accordingly, genetic deletion of Cxcl4 in mice significantly reduced histological and biochemical liver damage in vivo, which was accompanied by changes in the expression of fibrosis-related genes (Timp-1 [tissue inhibitor of matrix metalloproteinase 1], Mmp9 [matrix metalloproteinase 9], Tgf-beta [transforming growth factor beta], IL10 [interleukin 10]).", "output": {"entities": {"gene": [{"text": "Cxcl4", "start": 33, "end": 38}], "disease": [{"text": "fibrosis", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "EGFR mutation was assessed from DNA of 63 paraffin-embedded small needle biopsy/aspiration specimens from 62 patients with NSCLC treated with gefitinib.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 0, "end": 4}], "disease": [{"text": "aspiration", "start": 80, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection.", "output": {"entities": {"gene": [{"text": "GP Ia", "start": 36, "end": 41}], "disease": [{"text": "hantavirus infection", "start": 122, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Genotyping of 1163 European SLE patients and 1482 controls and imputation were performed covering the BLK gene with 158 single-nucleotide polymorphisms.", "output": {"entities": {"gene": [{"text": "BLK", "start": 102, "end": 105}], "disease": [{"text": "SLE", "start": 28, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BLK", "start": 102, "end": 105}, "tail": {"text": "SLE", "start": 28, "end": 31}}]}}, "schema": []}
{"input": "Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as \" Mild \" (controls) or \" Severe \" (cases), based on renal manifestations.", "output": {"entities": {"gene": [{"text": "COL4A3", "start": 91, "end": 97}], "disease": [{"text": "mild", "start": 268, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor.", "output": {"entities": {"gene": [{"text": "epidermal growth factor receptor", "start": 61, "end": 93}], "disease": [{"text": "multiorgan failure", "start": 26, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Cerebral Cavernous Malformations (CCM/MIM 604214) are vascular malformations characterised by abnormally enlarged capillary cavities without intervening brain parenchyma.", "output": {"entities": {"gene": [{"text": "MIM", "start": 38, "end": 41}], "disease": [{"text": "vascular malformations", "start": 54, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Further analyses of transcriptional mechanisms underlying Cyr61 gene expression under hypoxia demonstrated that an AP-1 binding motif within the Cyr61 promoter plays a central role in the hypoxic regulation of Cyr61.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 115, "end": 119}], "disease": [{"text": "hypoxic", "start": 188, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSIONS: HER2 positivity was shown in 17% of resected EACs and associated with reduced tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "HER2", "start": 13, "end": 17}], "disease": [{"text": "aggressiveness", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "To assess the expression of p53 in premalignant lesions, we examined by immunohistochemistry benign colorectal adenomas (n = 72, measuring more than 6 mm and less than 95 mm in diameter) from patients without (group I, n = 23) or with (group II, n = 49) concurrent sporadic colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 28, "end": 31}], "disease": [{"text": "sporadic", "start": 265, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Members of the miR-29 family, which include miR-29a, miR-29b and miR-29c, are strong inhibitors of ECM synthesis and fibrosis-associated decreases in miR-29 have been reported in multiple organs.", "output": {"entities": {"gene": [{"text": "ECM", "start": 99, "end": 102}], "disease": [{"text": "fibrosis", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "However, there have been no reports of the expression of PTGFR in the tumor vessels of renal cell carcinoma (RCC).", "output": {"entities": {"gene": [{"text": "PTGFR", "start": 57, "end": 62}], "disease": [{"text": "tumor", "start": 70, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis.", "output": {"entities": {"gene": [{"text": "TET2", "start": 0, "end": 4}], "disease": [{"text": "abnormalities", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "NF--L", "start": 188, "end": 193}], "disease": [{"text": "major depression", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF--L", "start": 188, "end": 193}, "tail": {"text": "major depression", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "This suggests that loss of T-cell reactivity may not be directly linked to HIV-specific CD4 (+) T-cell responses but that increased viremia after CTL escape may influence CD4 (+) T-helper responses.", "output": {"entities": {"gene": [{"text": "CD4", "start": 88, "end": 91}], "disease": [{"text": "viremia", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported that the phorbol ester, 12-O-tetradecanoyl phorbol 13-acetate (TPA) induces, in the TT cell line of human medullary thyroid carcinoma, decreased cellular proliferation, increased calcitonin secretion, and enhanced calcitonin gene transcription (deBustros, A., Baylin, S. B., Berger, C. L., Roos, B.", "output": {"entities": {"gene": [{"text": "TPA", "start": 91, "end": 94}], "disease": [{"text": "medullary thyroid carcinoma", "start": 134, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Endonuclease V (denV) from bacteriophage T4 has been examined for its ability to complement the repair defect in Cockayne syndrome (CS) cells of complementation groups A and B. CS is an autosomal recessive disorder characterized by hypersensitivity to UV light and a defect in the preferential repair of UV-induced lesions in transcriptionally active DNA by the nucleotide excision repair (NER) pathway.", "output": {"entities": {"gene": [{"text": "Endonuclease V", "start": 0, "end": 14}], "disease": [{"text": "hypersensitivity", "start": 232, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Since it is important to examine these associations in as many populations as possible, we investigated APOE, APOC1, APOC2, alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) polymorphisms in a series of elderly patients with late-onset sporadic AD from Northern Italy and in a sex and age-matched control group.", "output": {"entities": {"gene": [{"text": "ACT", "start": 150, "end": 153}], "disease": [{"text": "sporadic", "start": 241, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether CHRNA4 and APOE genotypes influence retinal nerve fibre layer (RNFL) thickness at the optic disc, intraocular pressure (IOP) and the development of exfoliation syndrome (XFS).", "output": {"entities": {"gene": [{"text": "CHRNA4", "start": 23, "end": 29}], "disease": [{"text": "exfoliation syndrome", "start": 171, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "We have shown here that HNF1beta can overcome the enlargement and the induction of an ectopic pronephros mediated by overexpression of Pax8 and lim1.", "output": {"entities": {"gene": [{"text": "lim1", "start": 144, "end": 148}], "disease": [{"text": "enlargement", "start": 50, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "More than two hundred characterized 21-hydroxylase deficiency alleles appear to result exclusively from sequence exchanges involving the 21-hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A).", "output": {"entities": {"gene": [{"text": "CYP21B", "start": 158, "end": 164}], "disease": [{"text": "21-hydroxylase deficiency", "start": 36, "end": 61}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21B", "start": 158, "end": 164}, "tail": {"text": "21-hydroxylase deficiency", "start": 36, "end": 61}}]}}, "schema": []}
{"input": "Redox homeostasis and cellular stress response in aging and neurodegeneration.", "output": {"entities": {"gene": [{"text": "cellular stress response", "start": 22, "end": 46}], "disease": [{"text": "neurodegeneration", "start": 60, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "These results were supported by cosegregation of MYOCD variants with the phenotype in 4 unrelated families by in vitro transactivation studies in which pathogenic variants resulted in abrogated SM gene expression and by the finding of megabladder in 2 distinct mouse models with reduced Myocd activity.", "output": {"entities": {"gene": [{"text": "MYOCD", "start": 49, "end": 54}], "disease": [{"text": "megabladder", "start": 235, "end": 246}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MYOCD", "start": 49, "end": 54}, "tail": {"text": "megabladder", "start": 235, "end": 246}}]}}, "schema": []}
{"input": "In conclusion, telmisartan treatment attenuates vascular hypertrophy in SHR by the modulation of ACE2 and profilin-1 expression with a marked reversal of ERK1/2 and JNK phosphorylation signaling pathways.", "output": {"entities": {"gene": [{"text": "JNK", "start": 165, "end": 168}], "disease": [{"text": "hypertrophy", "start": 57, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Therefore, calcium or phosphorus depletion, as well as chronic kidney failure, regulate the interaction of KSRP and AUF1 with PTH mRNA and its half-life.", "output": {"entities": {"gene": [{"text": "KSRP", "start": 107, "end": 111}], "disease": [{"text": "chronic kidney failure", "start": 55, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Given the growing body of evidence that the syntenic region of human chromosome 9p and human MPDZ gene are associated with alcohol abuse, our results may facilitate research on alcohol dependence and associated withdrawal in clinical populations.", "output": {"entities": {"gene": [{"text": "MPDZ", "start": 93, "end": 97}], "disease": [{"text": "alcohol abuse", "start": 123, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MPDZ", "start": 93, "end": 97}, "tail": {"text": "alcohol abuse", "start": 123, "end": 136}}]}}, "schema": []}
{"input": "We have also shown that microglia from p53-deficient mice fail to induce neurotoxicity in response to the HIV coat protein gp120 in a coculture system, supporting the hypothesis that p53 plays a pathogenic role in the chronic neuroinflammatory component of HIV-associated neurodegeneration.", "output": {"entities": {"gene": [{"text": "p53", "start": 39, "end": 42}], "disease": [{"text": "neurodegeneration", "start": 272, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "LACE is a good candidate for BP; it is an ATPase.", "output": {"entities": {"gene": [{"text": "ATPase", "start": 42, "end": 48}], "disease": [{"text": "BP", "start": 29, "end": 31}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATPase", "start": 42, "end": 48}, "tail": {"text": "BP", "start": 29, "end": 31}}]}}, "schema": []}
{"input": "In summary, our data suggest a novel mechanism whereby SDHD germline variants SDHD-G12S or SDHD-H50R induce thyroid tumorigenesis mediated by PTEN accumulation in the nucleus and may shed light on potential treatment with SRC inhibitors like bosutinib in PTEN-wild-type SDHD-variant/mutation positive CS/CSL patients and sporadic thyroid neoplasias.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 55, "end": 59}], "disease": [{"text": "tumorigenesis", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c. 649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases).", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 12, "end": 17}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.", "output": {"entities": {"gene": [{"text": "blue-sensitive opsin", "start": 69, "end": 89}], "disease": [{"text": "tritanopia", "start": 6, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "blue-sensitive opsin", "start": 69, "end": 89}, "tail": {"text": "tritanopia", "start": 6, "end": 16}}]}}, "schema": []}
{"input": "Transgenic mice expressing human stratum corneum chymotryptic enzyme in suprabasal epidermal keratinocytes were found to develop pathologic skin changes with increased epidermal thickness, hyperkeratosis, dermal inflammation, and severe pruritus.", "output": {"entities": {"gene": [{"text": "stratum corneum chymotryptic enzyme", "start": 33, "end": 68}], "disease": [{"text": "pruritus", "start": 237, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "A significant negative correlation exists between miR-101 or miR-217 and MALAT1 in 42 pairs of ESCC tissue samples and adjacent normal tissues.", "output": {"entities": {"gene": [{"text": "miR-217", "start": 61, "end": 68}], "disease": [{"text": "ESCC", "start": 95, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-217", "start": 61, "end": 68}, "tail": {"text": "ESCC", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "In the PHPT group, no statistical associations were found between different allelic distribution and age, creatinine, hematocrit, phosphorus, alkaline phosphatase (ALP), total calcium, serum parathyroid hormone (PTH), or gland weight.", "output": {"entities": {"gene": [{"text": "PTH", "start": 212, "end": 215}], "disease": [{"text": "weight", "start": 227, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.", "output": {"entities": {"gene": [{"text": "HtrA2", "start": 93, "end": 98}], "disease": [{"text": "neurodegeneration", "start": 26, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort.", "output": {"entities": {"gene": [{"text": "KIF11", "start": 53, "end": 58}], "disease": [{"text": "microcephaly-lymphedema-chorioretinal-dysplasia", "start": 147, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIF11", "start": 53, "end": 58}, "tail": {"text": "microcephaly-lymphedema-chorioretinal-dysplasia", "start": 147, "end": 194}}]}}, "schema": []}
{"input": "In this study, we investigated its role in colorectal carcinogenesis and searched for genes regulated by MRGBP.", "output": {"entities": {"gene": [{"text": "MRGBP", "start": 105, "end": 110}], "disease": [{"text": "carcinogenesis", "start": 54, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c. 586C & gt; T p. R196 *.", "output": {"entities": {"gene": [{"text": "PQBP1", "start": 81, "end": 86}], "disease": [{"text": "bulbous nose", "start": 121, "end": 133}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PQBP1", "start": 81, "end": 86}, "tail": {"text": "bulbous nose", "start": 121, "end": 133}}]}}, "schema": []}
{"input": "The thick calvarium and thick skin were clues to the clinical diagnosis of MS. A heterozygous mutation in the mothers-against-DPP homolog 4 (SMAD4) gene has been reported to cause MS. We sequenced SMAD4 using standard PCR-based technique and identified a recurrent mutation (p. Ile500 Thr).", "output": {"entities": {"gene": [{"text": "DPP", "start": 126, "end": 129}], "disease": [{"text": "thick skin", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Renal hypouricemia (MIM 220150) is an inherited disorder characterized by low serum uric acid levels and has severe complications such as exercise-induced acute renal failure and urolithiasis.", "output": {"entities": {"gene": [{"text": "MIM", "start": 20, "end": 23}], "disease": [{"text": "urolithiasis", "start": 179, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "These findings suggests that hyperhexosemia and diabetes causes upregulation of ET-1, FN and EDB (+) FN at the transcriptional level in the retina and kidney via a signaling pathway mediated by PARP and an epigenetic mechanism involving p300 and MEF2 transcription factors.", "output": {"entities": {"gene": [{"text": "EDB", "start": 93, "end": 96}], "disease": [{"text": "diabetes", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The long-term TMZ-treated astroglioma cells, but not the Hs683 oligodendroglioma cells, developed in vivo a certain level of resistance to TMZ, which correlated with the up-regulation of CXCL2, CXCL3 and CXCL8 expression in the U373 and T98G astroglioma cells.", "output": {"entities": {"gene": [{"text": "CXCL3", "start": 194, "end": 199}], "disease": [{"text": "oligodendroglioma", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, CD44 ablation enhanced the effect of chemotherapeutic drugs in p53-deficient or hypoxic cancer cells.", "output": {"entities": {"gene": [{"text": "CD44", "start": 13, "end": 17}], "disease": [{"text": "hypoxic", "start": 93, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Hox genes are implicated in hematopoietic stem cell (HSC) regulation as well as in leukemia development through translocation with the nucleoporin gene NUP98.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 152, "end": 157}], "disease": [{"text": "translocation", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The development of disturbed substrate utilization of FASN transgenic cardiomyocytes and signs of heart failure were retarded by the transgenic expression of GRKInh, a peptide inhibitor of GRK2.", "output": {"entities": {"gene": [{"text": "FASN", "start": 54, "end": 58}], "disease": [{"text": "heart failure", "start": 98, "end": 111}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FASN", "start": 54, "end": 58}, "tail": {"text": "heart failure", "start": 98, "end": 111}}]}}, "schema": []}
{"input": "Increased atherosclerosis in hyperlipidemic mice deficient in alpha-tocopherol transfer protein and vitamin E.", "output": {"entities": {"gene": [{"text": "alpha-tocopherol transfer protein", "start": 62, "end": 95}], "disease": [{"text": "atherosclerosis", "start": 10, "end": 25}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "alpha-tocopherol transfer protein", "start": 62, "end": 95}, "tail": {"text": "atherosclerosis", "start": 10, "end": 25}}]}}, "schema": []}
{"input": "XP2NI had mild skin symptoms and the cells were slightly less sensitive to UV radiation than the cells of typical severe XPA patients who have the splicing mutation in intron 3 homozygously.", "output": {"entities": {"gene": [{"text": "XPA", "start": 121, "end": 124}], "disease": [{"text": "mild", "start": 10, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Only one bFGF isoform (17. 8 kd) was found in idiopathic pulmonary fibrosis and chronic beryllium disease lung tissues and interacted with heparin-like molecules in the lung.", "output": {"entities": {"gene": [{"text": "bFGF", "start": 9, "end": 13}], "disease": [{"text": "pulmonary fibrosis", "start": 57, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bFGF", "start": 9, "end": 13}, "tail": {"text": "pulmonary fibrosis", "start": 57, "end": 75}}]}}, "schema": []}
{"input": "Our data suggest that the alterations in nuclear and mitochondrial activation of STAT3 and caveolae localization of caveolin-3 are related to the development of the catecholamine-induced cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "caveolin-3", "start": 116, "end": 126}], "disease": [{"text": "cardiac hypertrophy", "start": 187, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caveolin-3", "start": 116, "end": 126}, "tail": {"text": "cardiac hypertrophy", "start": 187, "end": 206}}]}}, "schema": []}
{"input": "The groups did not differ significantly with respect to anthropometric measures, glucose tolerance, fasting and 2 h plasma insulin levels during OGTT, estimated peripheral insulin resistance, peripheral blood mononuclear cell or fibroblast telomere length, DNA damage or senescence in vitro, plasma NMR lipoprotein profiles or levels of high-sensitivity C-reactive protein.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 354, "end": 372}], "disease": [{"text": "insulin resistance", "start": 172, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Other tumors express increased CCND2, either with or without a t (4; 14) translocation.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 31, "end": 36}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "TER was reduced in ALI cultures from patients with CRS with nasal polyps.", "output": {"entities": {"gene": [{"text": "TER", "start": 0, "end": 3}], "disease": [{"text": "nasal polyps", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The implication of specific polymorphisms at the GSTP1 locus in airway inflammation is entirely novel: however, GST are recognized as a supergene family of enzymes critical in 1) cell protection from the toxic products of ROS-mediated reactions, 2) modulation of eicosanoid synthesis.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 49, "end": 54}], "disease": [{"text": "inflammation", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "MCSP can stimulate the integrin-alpha4 beta1-mediated adhesion and spreading of melanoma cells.", "output": {"entities": {"gene": [{"text": "MCSP", "start": 0, "end": 4}], "disease": [{"text": "adhesion", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Lack of association between ApoE gene polymorphism and Type 2 diabetic foot ulcers might be due to ethnic differences.", "output": {"entities": {"gene": [{"text": "ApoE gene", "start": 28, "end": 37}], "disease": [{"text": "diabetic foot ulcers", "start": 62, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Disruption of GIP/GIPR axis in human adipose tissue is linked to obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "GIP", "start": 14, "end": 17}], "disease": [{"text": "insulin resistance", "start": 77, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "These include probes for all three genes whose polypeptide products combine to form the fibrinogen molecule as well as probes for the prothrombin, Factor IX, Factor VIII, and antithrombin III genes.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 175, "end": 191}], "disease": [{"text": "fibrinogen", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "FCGR3B copy number variation is associated with systemic lupus erythematosus risk in Afro-Caribbeans.", "output": {"entities": {"gene": [{"text": "FCGR3B", "start": 0, "end": 6}], "disease": [{"text": "systemic lupus erythematosus", "start": 48, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FCGR3B", "start": 0, "end": 6}, "tail": {"text": "systemic lupus erythematosus", "start": 48, "end": 76}}]}}, "schema": []}
{"input": "Ongoing clinical trials will evaluate whether immunosuppression of the cadaveric organ donor before organ harvest will have the potential to reduce inflammation in the transplant kidney and subsequently lead to a reduction in the rate of ARF.", "output": {"entities": {"gene": [{"text": "ARF", "start": 238, "end": 241}], "disease": [{"text": "inflammation", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "We found that thrombin-induced COX-2 expression, PGE2 release and cardiomyocyte hypertrophy markers (increase in ANF/BNP, α-actin expression and cell surface area) was attenuated by pretreatment with CORM-2 which was partially reversed by hemoglobin (Hb) or ZnPP (an inhibitor of HO-1 activity), suggesting that HO-1/CO system may be of clinical importance to ameliorate heart failure through inhibition of inflammatory responses.", "output": {"entities": {"gene": [{"text": "ANF", "start": 113, "end": 116}], "disease": [{"text": "heart failure", "start": 371, "end": 384}]}, "relations": {}}, "schema": []}
{"input": "Data also suggest that α2δ-1 targeting is a novel strategy that may be used to reverse pathological CaV1. 2 channel trafficking to induce cerebrovascular dilation in hypertension.", "output": {"entities": {"gene": [{"text": "CaV1. 2", "start": 100, "end": 107}], "disease": [{"text": "dilation", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "A Pitrm1 (+/-) heterozygous mouse showed progressive ataxia associated with brain degenerative lesions, including accumulation of Aβ-positive amyloid deposits.", "output": {"entities": {"gene": [{"text": "Pitrm1", "start": 2, "end": 8}], "disease": [{"text": "amyloid deposits", "start": 142, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In addition, the number of retrogradely labeled neurons from the dura expressing HCN1 and HCN2 was significantly increased to 247% (HCN1) and 171% (HCN2), three days after inflammation.", "output": {"entities": {"gene": [{"text": "HCN2", "start": 90, "end": 94}], "disease": [{"text": "inflammation", "start": 172, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "(CCTTT) n repeat polymorphism in the NOS2 gene promoter is associated with atopy.", "output": {"entities": {"gene": [{"text": "NOS2 gene", "start": 37, "end": 46}], "disease": [{"text": "atopy", "start": 75, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Ala114Val and Ile105Val polymorphisms genotypes of GSTP1 gene, bone mineral density (BMD) values of total hip (_th), femoral neck (_fn) and lumbar spine (_ls), plasma osteocalcin (OC), serum bone alkaline phosphatase (BALP), free soluble RANKL and serum osteoprotegerin (sOPG) concentrations were determined.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 238, "end": 243}], "disease": [{"text": "bone mineral density", "start": 63, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Tsc1 +/-mice show social and cognitive deficits in the absence of apparent cerebral pathology and spontaneous seizures.", "output": {"entities": {"gene": [{"text": "Tsc1", "start": 0, "end": 4}], "disease": [{"text": "cognitive deficits", "start": 29, "end": 47}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Tsc1", "start": 0, "end": 4}, "tail": {"text": "cognitive deficits", "start": 29, "end": 47}}]}}, "schema": []}
{"input": "The evidence suggests that ANKRD7 and CYTL1 genes may play an important role in the variance in AD risk.", "output": {"entities": {"gene": [{"text": "CYTL1", "start": 38, "end": 43}], "disease": [{"text": "AD", "start": 96, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYTL1", "start": 38, "end": 43}, "tail": {"text": "AD", "start": 96, "end": 98}}]}}, "schema": []}
{"input": "In conclusion, EBI3 gene rs4740 polymorphism is closely associated with susceptibility to PTB and the elevation and enrichment of EBI3 in the lung which at least partially derived from macrophages may contribute to the exacerbation of mycobacterial infection.", "output": {"entities": {"gene": [{"text": "PTB", "start": 90, "end": 93}], "disease": [{"text": "mycobacterial infection", "start": 235, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome.", "output": {"entities": {"gene": [{"text": "p53", "start": 14, "end": 17}], "disease": [{"text": "sporadic", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the effect of partial or total transcortin deficiency using transcortin knockout mice on hypothalamus-pituitary-adrenal axis functioning and regulation as well as on behaviors linked to anxiety and depression traits in animals.", "output": {"entities": {"gene": [{"text": "transcortin", "start": 52, "end": 63}], "disease": [{"text": "depression", "start": 219, "end": 229}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transcortin", "start": 52, "end": 63}, "tail": {"text": "depression", "start": 219, "end": 229}}]}}, "schema": []}
{"input": "Patients with anti-MDA5 antibodies also had an increased risk of oral pain and/or ulceration, hand swelling, arthritis/arthralgia, and diffuse hair loss.", "output": {"entities": {"gene": [{"text": "MDA5", "start": 19, "end": 23}], "disease": [{"text": "arthralgia", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Class I to III histone deacetylases differentially regulate inflammation-induced matrix metalloproteinase 9 expression in primary amnion cells.", "output": {"entities": {"gene": [{"text": "matrix metalloproteinase 9", "start": 81, "end": 107}], "disease": [{"text": "inflammation", "start": 60, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "matrix metalloproteinase 9", "start": 81, "end": 107}, "tail": {"text": "inflammation", "start": 60, "end": 72}}]}}, "schema": []}
{"input": "Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.", "output": {"entities": {"gene": [{"text": "RET proto-oncogene", "start": 146, "end": 164}], "disease": [{"text": "familial medullary thyroid cancer", "start": 59, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET proto-oncogene", "start": 146, "end": 164}, "tail": {"text": "familial medullary thyroid cancer", "start": 59, "end": 92}}]}}, "schema": []}
{"input": "The messenger RNA expression of dendritic cell nuclear protein-1 appeared to be increased in the laser micro-dissected paraventricular nucleus of patients with depression compared with control subjects.", "output": {"entities": {"gene": [{"text": "dendritic cell nuclear protein-1", "start": 32, "end": 64}], "disease": [{"text": "depression", "start": 160, "end": 170}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dendritic cell nuclear protein-1", "start": 32, "end": 64}, "tail": {"text": "depression", "start": 160, "end": 170}}]}}, "schema": []}
{"input": "By single nucleotide polymorphism arrays, uniparental disomy on chromosome 5q, 8q, 11p, and 17p was found in AP and BP but not involving 4q24 (TET2) or 11q23 (CBL).", "output": {"entities": {"gene": [{"text": "CBL", "start": 159, "end": 162}], "disease": [{"text": "uniparental disomy", "start": 42, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "ChIP assays demonstrate that HIF1A binds to these HRE elements in the promoter region, and luciferase reporter assays using the WASF3 gene minimal promoter shows that hypoxia results in its upregulation.", "output": {"entities": {"gene": [{"text": "WASF3 gene", "start": 128, "end": 138}], "disease": [{"text": "hypoxia", "start": 167, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In addition, rIL-17A induced rat pancreatic acinar cell necrosis and promoted expression of several target genes, including IL-6, IL-1β, CXCL1, CXCL2, and CXCL5, in acinar cells and PSCs.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 155, "end": 160}], "disease": [{"text": "necrosis", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Transient forebrain or global ischemia induces delayed neuronal death in vulnerable CA1 pyramidal cells with many features of apoptosis.", "output": {"entities": {"gene": [{"text": "CA1", "start": 84, "end": 87}], "disease": [{"text": "ischemia", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Based on these findings, the carcinogenesis of RER positive nonfamilial colorectal carcinoma is considered different from that of HNPCC:", "output": {"entities": {"gene": [{"text": "RER", "start": 47, "end": 50}], "disease": [{"text": "carcinogenesis", "start": 29, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have demonstrated that the leukemia cells from a subset of patients with ATL express Foxp3, a specific marker for CD25 + CD4 + regulatory T (Treg) cells, which regulate the immune response by suppressing CD4 + T cell functions.", "output": {"entities": {"gene": [{"text": "CD4", "start": 136, "end": 139}], "disease": [{"text": "leukemia", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Analysis of hypoxia-induced gene expression revealed that PLD2 deficiency disrupted the upregulation of hypoxia-inducible factor-1α target genes, including VEGF, PFKFB3, HMOX-1, and NTRK2.", "output": {"entities": {"gene": [{"text": "PFKFB3", "start": 162, "end": 168}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Thus, SPA hyperthermia may protect rats against neurogenic inflammation through modulation of HSP expression.", "output": {"entities": {"gene": [{"text": "SPA", "start": 6, "end": 9}], "disease": [{"text": "hyperthermia", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Future studies are needed to further elucidate the role of soluble and membrane-expressed LST1 in the regulation of mucosal intestinal immunity and inflammation as well as to reveal possible therapeutic implications.", "output": {"entities": {"gene": [{"text": "LST1", "start": 90, "end": 94}], "disease": [{"text": "inflammation", "start": 148, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the DNA mismatch repair (MMR) gene hMSH2 underlie a novel pathway of tumorigenesis for some cancers of epithelial origin.", "output": {"entities": {"gene": [{"text": "MMR", "start": 38, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Translocations or isochromosome formations at sites of low-copy DNA repeats in 17p10 to 17p12 appear to be the mechanism for the loss of TP53 in B-CLL.", "output": {"entities": {"gene": [{"text": "TP53", "start": 137, "end": 141}], "disease": [{"text": "B-CLL", "start": 145, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TP53", "start": 137, "end": 141}, "tail": {"text": "B-CLL", "start": 145, "end": 150}}]}}, "schema": []}
{"input": "Genetic and biochemical data together favor the view that physiological progerin production is under tight control of a conserved splicing mechanism to avoid precocious aging.", "output": {"entities": {"gene": [{"text": "progerin", "start": 72, "end": 80}], "disease": [{"text": "aging", "start": 169, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We investigated NSD1 and GPC3 deletions or mutations, 11p15 abnormalities, and 22qter deletions.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 16, "end": 20}], "disease": [{"text": "abnormalities", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease.", "output": {"entities": {"gene": [{"text": "AFG3L2", "start": 112, "end": 118}], "disease": [{"text": "Spinocerebellar ataxia type 28", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AFG3L2", "start": 112, "end": 118}, "tail": {"text": "Spinocerebellar ataxia type 28", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "METHODS: Immunohistochemical analysis was performed on 138 gastric carcinoma specimens, their paired adjacent mucosa specimens, 102 paired lymphatic metastatic carcinoma tissue specimens, 30 dysplasia specimens, 30 intestinal metaplasia specimens, 10 chronic superficial gastritis specimens and 5 normal gastric mucosa specimens for Skp2 expression and on 138 gastric carcinoma specimens for p27 and PTEN expression.", "output": {"entities": {"gene": [{"text": "p27", "start": 392, "end": 395}], "disease": [{"text": "metastatic carcinoma", "start": 149, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "ErbB3 was upregulated in 34%, and ErbB4 is downregulated in NF2-related VS. Of EGF receptor (EGFR) ligands, EGF was upregulated in all NF2-related VS, but none of the sporadic VS (p < 0. 01), and transforming growth factor alpha and beta-cellulin showed upregulation in 67% of NF2-related VS but not sporadic VS (p = 0. 02 and p = 0. 01, respectively).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 93, "end": 97}], "disease": [{"text": "sporadic", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "JUN and two of the miRNA targets (CCND2 and PTPN1) in the network have previously been associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "CCND2", "start": 34, "end": 39}], "disease": [{"text": "schizophrenia", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCND2", "start": 34, "end": 39}, "tail": {"text": "schizophrenia", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "In 79 patients with prostate cancer, 23 patients with benign prostatic hyperplasia, and 44 healthy individuals plasma TFF1, TFF2, and TFF3 were determined with ELISAs and compared with clinical stage and prostate-specific antigen (PSA) values.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 124, "end": 128}], "disease": [{"text": "benign prostatic hyperplasia", "start": 54, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Among 123 primary and metastatic melanoma tumors and 12 normal skin samples, RUNX3 expression was significantly down-regulated in primary melanomas (n = 82; P = 0. 02) and in melanoma metastasis (n = 41; P < 0. 0001) versus normal skin (n = 12).", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 77, "end": 82}], "disease": [{"text": "metastatic melanoma", "start": 22, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "To explore the effects of atrial natriuretic peptide (ANP) upon the activities of Na (+), K (+)-ATPase, Ca (2 +)-ATPase and mRNA expression levels of Na (+), K (+)-ATPase alpha (1)-subunit and plasma membrane Ca (2 +)-ATPase isoform 1 (PMCA1) in cultured thoracic aortic vascular smooth muscle cells (ASMCs) isolated from spontaneously hypertensive rats (SHR).", "output": {"entities": {"gene": [{"text": "ANP", "start": 54, "end": 57}], "disease": [{"text": "thoracic", "start": 255, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.", "output": {"entities": {"gene": [{"text": "glypican-4", "start": 21, "end": 31}], "disease": [{"text": "Simpson-Golabi-Behmel syndrome", "start": 56, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glypican-4", "start": 21, "end": 31}, "tail": {"text": "Simpson-Golabi-Behmel syndrome", "start": 56, "end": 86}}]}}, "schema": []}
{"input": "Carrier cells delivering a conditionally replicating adenovirus (CRAd), which selectively replicates in tumor cells and induces tumor cell lysis, have promising potential for treatment of cancer because CRAd-loaded carrier cells evade inhibition by neutralizing anti-adenovirus (Ad) antibodies and because the carrier cells are locally retained at the injection point after local injection.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 65, "end": 69}], "disease": [{"text": "cancer", "start": 188, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "To determine whether these discrepancies can be explained by changes in monocyte subsets, the expression of CD14 and CD16 was evaluated in tuberculosis patients and healthy controls; additionally, some markers related to the mononuclear phagocytes maturation, differentiation and function, such as CD1a, CD1c, CD11b, CD11c, CD13, CD33, CD36, CD40, CD64, CD68, CD80, CD83, CD86, HLA-DR, CCR2, CCR5, and non-specific esterases (NSE) were determined in monocyte subsets.", "output": {"entities": {"gene": [{"text": "CD33", "start": 330, "end": 334}], "disease": [{"text": "tuberculosis", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Recently, the t (5, 9) (q33; q22) translocation was found in a subset of peripheral T cell lymphomas and was shown to result in an IL-2-inducible kinase-spleen tyrosine kinase (ITK-Syk) fusion transcript.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 131, "end": 135}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were to investigate whether tobacco smoke exposure increases the level of inflammation biomarkers and the GSTM1 and GSTP1 gene polymorphisms are associated with inflammatory response due to tobacco smoke exposure.", "output": {"entities": {"gene": [{"text": "GSTP1 gene", "start": 139, "end": 149}], "disease": [{"text": "inflammation", "start": 97, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Serum from treated mice was used to screen an AGN2a cDNA expression library that was constructed with lambda ZAP express vector in order to identify tumor-associated antigens by SEREX.", "output": {"entities": {"gene": [{"text": "ZAP", "start": 109, "end": 112}], "disease": [{"text": "tumor", "start": 149, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.", "output": {"entities": {"gene": [{"text": "nup62", "start": 8, "end": 13}], "disease": [{"text": "infantile bilateral striatal necrosis", "start": 41, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nup62", "start": 8, "end": 13}, "tail": {"text": "infantile bilateral striatal necrosis", "start": 41, "end": 78}}]}}, "schema": []}
{"input": "Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.", "output": {"entities": {"gene": [{"text": "NR2E3", "start": 105, "end": 110}], "disease": [{"text": "abnormalities", "start": 16, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "When GBM-derived neurosphere cultures are grown in 1% oxygen, hypoxia-inducible factor 1alpha (HIF1alpha) protein levels increase dramatically, and mRNA encoding other hypoxic response genes, such as those encoding hypoxia-inducible gene-2, lysyl oxidase, and vascular endothelial growth factor, are induced over 10-fold.", "output": {"entities": {"gene": [{"text": "lysyl oxidase", "start": 241, "end": 254}], "disease": [{"text": "hypoxia", "start": 62, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Interleukin 10 mitigates the development of the zymosan-induced multiple organ dysfunction syndrome in mice.", "output": {"entities": {"gene": [{"text": "Interleukin 10", "start": 0, "end": 14}], "disease": [{"text": "multiple organ dysfunction syndrome", "start": 64, "end": 99}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Interleukin 10", "start": 0, "end": 14}, "tail": {"text": "multiple organ dysfunction syndrome", "start": 64, "end": 99}}]}}, "schema": []}
{"input": "Shared clinical features in this group of patients include microcephaly, prenatal onset growth restriction, heart defects, tracheoesophageal fistula, and esophageal atresia (TEF/EA), skeletal anomalies, and moderate to severe global developmental delay.", "output": {"entities": {"gene": [{"text": "TEF", "start": 174, "end": 177}], "disease": [{"text": "heart defects", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the role of Apolipoprotein E gene polymorphism and the signal peptide polymorphism in alpha-1 antichymotrypsin (ACT) gene in idiopathic sporadic PD.", "output": {"entities": {"gene": [{"text": "ACT", "start": 150, "end": 153}], "disease": [{"text": "sporadic", "start": 174, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "These results provide additional evidence that GABRB3 and MAOB/NDP gene regions might constitute risk factors for hallucinations and delusions in schizophrenia.", "output": {"entities": {"gene": [{"text": "NDP", "start": 63, "end": 66}], "disease": [{"text": "schizophrenia", "start": 146, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDP", "start": 63, "end": 66}, "tail": {"text": "schizophrenia", "start": 146, "end": 159}}]}}, "schema": []}
{"input": "We identified alterations in the mRNA level of a wide range of genes, including some that are involved in Wnt signalling (Wnt5a, Wif1, Dixdc1, Wnt11, Ccnd1, and Ccnd2), although we did not observe nuclear localization of β-catenin in over 93 human PJS intestinal polyps or in 24 gastric polyps from Lkb1 (+/-) mice.", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 221, "end": 230}], "disease": [{"text": "gastric polyps", "start": 279, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Sera from patients with streptococcal infections, acute glomerulonephritis, and ARF were reactive with the recombinant 67-kDa protein.", "output": {"entities": {"gene": [{"text": "ARF", "start": 80, "end": 83}], "disease": [{"text": "acute glomerulonephritis", "start": 50, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Computer-assisted quantification revealed a significant increase in A beta 42, but not A beta 40, burden in the brains from 4 PS1-FAD patients compared with those from 12 sporadic AD patients.", "output": {"entities": {"gene": [{"text": "FAD", "start": 130, "end": 133}], "disease": [{"text": "sporadic", "start": 171, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 2, "end": 8}], "disease": [{"text": "achondrogenesis type II", "start": 21, "end": 44}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 2, "end": 8}, "tail": {"text": "achondrogenesis type II", "start": 21, "end": 44}}]}}, "schema": []}
{"input": "We observed that hypoxia impaired spatial learning and memory in the APP/PS1 mouse.", "output": {"entities": {"gene": [{"text": "APP", "start": 69, "end": 72}], "disease": [{"text": "hypoxia", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "OESCs showed increased expression of aromatase, HSD17β1, STS, and EST, along with decreased HSD17β2 expression, when compared with stromal cells from normal endometria without endometriosis (NESCs) (P < 0. 01) or stromal cells from homologous endometrium (EESCs) (P < 0. 01).", "output": {"entities": {"gene": [{"text": "EST", "start": 66, "end": 69}], "disease": [{"text": "endometriosis", "start": 176, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Tissue factor pathway inhibitor-2 as a frequently silenced tumor suppressor gene in hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "Tissue factor pathway inhibitor-2", "start": 0, "end": 33}], "disease": [{"text": "hepatocellular carcinoma", "start": 84, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Tissue factor pathway inhibitor-2", "start": 0, "end": 33}, "tail": {"text": "hepatocellular carcinoma", "start": 84, "end": 108}}]}}, "schema": []}
{"input": "Among the 114 patients with CALR mutations, 51 (45%) displayed type-1 and 44 (39%) type-2 variants; compared to mutant JAK2, both variants were associated with higher platelet and lower hemoglobin and leukocyte counts.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 119, "end": 123}], "disease": [{"text": "hemoglobin", "start": 186, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "kappa-opioid receptor antagonists such as nor-Binaltorphimine (nor-BNI) have been shown to produce antidepressant-like behavioral effects in animal models of depression.", "output": {"entities": {"gene": [{"text": "kappa-opioid receptor", "start": 0, "end": 21}], "disease": [{"text": "depression", "start": 158, "end": 168}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "kappa-opioid receptor", "start": 0, "end": 21}, "tail": {"text": "depression", "start": 158, "end": 168}}]}}, "schema": []}
{"input": "This work shows that NLRX1 serves as a tumor suppressor in colitis-associated cancer (CAC) and sporadic colon cancer by keeping key tumor promoting pathways in check.", "output": {"entities": {"gene": [{"text": "CAC", "start": 86, "end": 89}], "disease": [{"text": "colon cancer", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "However, this line did possess a truncating mutation in one allele of CDX2, a gene whose inactivation has recently been shown to cause colon tumorigenesis in mice.", "output": {"entities": {"gene": [{"text": "CDX2", "start": 70, "end": 74}], "disease": [{"text": "tumorigenesis", "start": 141, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "There is enhanced mRNA expression of the HERV-K10 gag region in rheumatoid arthritis compared with osteoarthritis or healthy controls.", "output": {"entities": {"gene": [{"text": "K10", "start": 46, "end": 49}], "disease": [{"text": "osteoarthritis", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Familial density of alcoholism predicted an earlier onset of drinking, as did having deficits in reading achievement, reduced P300 (visual and auditory), and greater postural sway for age.", "output": {"entities": {"gene": [{"text": "P300", "start": 126, "end": 130}], "disease": [{"text": "drinking", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Danger signals released by innate immune cells activate a Th1 and Th17 response that leads to synovitis, enthesitis, axial inflammation, and altered bone homeostasis characterized by pathologic bone resorption and new bone formation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 58, "end": 61}], "disease": [{"text": "inflammation", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We analyzed whether six different genetic variants within and surrounding PINK1 contribute to the risk of sporadic PD in a Finnish case-control series.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 74, "end": 79}], "disease": [{"text": "sporadic", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We analyzed DNA samples of 163 patients with a clinical suspicion of GS by direct sequencing of all 26 exons of the SLC12A3 gene.", "output": {"entities": {"gene": [{"text": "SLC12A3", "start": 116, "end": 123}], "disease": [{"text": "GS", "start": 69, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC12A3", "start": 116, "end": 123}, "tail": {"text": "GS", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "Evaluation of \" increased \" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 46, "end": 50}], "disease": [{"text": "hemoglobin", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Analysis of familial cancer syndromes and sporadic cases has strongly implicated both p53 and pRb in its pathogenesis; however, the relative contribution of these mutations to the initiation of osteosarcoma is unclear.", "output": {"entities": {"gene": [{"text": "p53", "start": 86, "end": 89}], "disease": [{"text": "sporadic", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The PBGD gene of 18 Swiss AIP patients was analyzed by denaturing gradient gel electrophoresis screening of the genomic DNA and direct sequencing.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 4, "end": 8}], "disease": [{"text": "AIP", "start": 26, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 4, "end": 8}, "tail": {"text": "AIP", "start": 26, "end": 29}}]}}, "schema": []}
{"input": "Upon transfection with a cytomegalovirus-promoter-driven expression vector encoding the CD95 gene, CD95L (high) melanoma cells underwent apoptosis at a much higher level than CD95L (low) melanoma cells.", "output": {"entities": {"gene": [{"text": "CD95", "start": 88, "end": 92}], "disease": [{"text": "cytomegalovirus", "start": 25, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Features typical of CBS included early age of presentation (< 1 year) in 3 (25%), polyuria/dehydration in 4 (33%), growth retardation in 3 (25%), hypercalciuria (urinary calcium/creatinine mmol/mmoverline > 0. 55) in 4 (33%) and nephrolithiasis in 1 (8%).", "output": {"entities": {"gene": [{"text": "CBS", "start": 20, "end": 23}], "disease": [{"text": "growth retardation", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Overall, each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1).", "output": {"entities": {"gene": [{"text": "OATL1)", "start": 144, "end": 150}], "disease": [{"text": "mood disorders", "start": 87, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OATL1)", "start": 144, "end": 150}, "tail": {"text": "mood disorders", "start": 87, "end": 101}}]}}, "schema": []}
{"input": "Upregulation of MIF, CD74 and TLR4 are associated with increasing clinical stage and provide an opportunity as novel gastric cancer chemoprevention and/or treatment strategy.", "output": {"entities": {"gene": [{"text": "MIF", "start": 16, "end": 19}], "disease": [{"text": "gastric cancer", "start": 117, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "To clarify the origin of defective mismatch repair (MMR) in sporadic endometrial cancers with microsatellite instability (MSI), a thorough mutation analysis was performed on the human mismatch repair gene MSH3.", "output": {"entities": {"gene": [{"text": "MSH3", "start": 205, "end": 209}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The present demonstration that Jun-like immunoreactivity accumulates in CA1 neurons after brief ischemia indicates that widespread changes in gene expression, expected as a consequence of such primary effects on transcription factor activity, are likely to contribute to the phenomenon of induced ischemic tolerance and to other persistent changes in the brain following diverse insults.", "output": {"entities": {"gene": [{"text": "CA1", "start": 72, "end": 75}], "disease": [{"text": "ischemia", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We have observed elevated NF-kappaB DNA-binding activity in nuclear extracts from human papillomavirus type 6-and 11-infected laryngeal papilloma tissues.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 26, "end": 35}], "disease": [{"text": "laryngeal papilloma", "start": 126, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "smoking and polymorphisms in the genes involved in the metabolism of genotoxic carcinogens (EPHX1, GSTA1, GSTM1, GSTP1, GSTT1, NAT1, NAT2 and NQO1) or DNA repair (APE1, NBS1, XPC, XPD, XRCC1, XRCC3 and XRCC4), could modify the association between telomere length and cancer risk.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 133, "end": 137}], "disease": [{"text": "smoking", "start": 0, "end": 7}]}, "relations": {}}, "schema": []}
{"input": "In experimental diabetes, MCP-1 was overexpressed within the glomeruli and the absence of MCP-1 reduced both albuminuria and downregulation of nephrin and synaptopodin.", "output": {"entities": {"gene": [{"text": "synaptopodin", "start": 155, "end": 167}], "disease": [{"text": "diabetes", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "We developed a diagnostic gene panel for targeting all known genes encoding proteins in the GPI-anchor-synthesis pathway to screen individuals matching these features, and we detected three missense mutations in PGAP2, c. 46C & gt; T, c. 380T & gt; C, and c. 479C & gt; T, in two unrelated individuals with hyperphosphatasia with mental retardation syndrome (HPMRS).", "output": {"entities": {"gene": [{"text": "PGAP2", "start": 212, "end": 217}], "disease": [{"text": "hyperphosphatasia with mental retardation", "start": 307, "end": 348}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PGAP2", "start": 212, "end": 217}, "tail": {"text": "hyperphosphatasia with mental retardation", "start": 307, "end": 348}}]}}, "schema": []}
{"input": "The histopathological and immunohistochemical staining results indicated that SAC was able to effectively suppress the tumour growth and progression of oral cancer in vivo.", "output": {"entities": {"gene": [{"text": "SAC", "start": 78, "end": 81}], "disease": [{"text": "oral cancer", "start": 152, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "MIF represents a novel and important modulator of cystitis.", "output": {"entities": {"gene": [{"text": "MIF", "start": 0, "end": 3}], "disease": [{"text": "cystitis", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.", "output": {"entities": {"gene": [{"text": "GBE", "start": 52, "end": 55}], "disease": [{"text": "GSD-IV", "start": 113, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GBE", "start": 52, "end": 55}, "tail": {"text": "GSD-IV", "start": 113, "end": 119}}]}}, "schema": []}
{"input": "The APOE genotypes distributed similarly in the 94 shunt responsive and 16 non-responsive iNPH patients and healthy controls.", "output": {"entities": {"gene": [{"text": "APOE", "start": 4, "end": 8}], "disease": [{"text": "shunt", "start": 51, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 40, "end": 45}], "disease": [{"text": "Blepharophimosis syndrome", "start": 73, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXL2", "start": 40, "end": 45}, "tail": {"text": "Blepharophimosis syndrome", "start": 73, "end": 98}}]}}, "schema": []}
{"input": "These findings indicate that the t (4; 14) (p16. 3; q32) represents a novel, recurrent chromosomal translocation in MM, and suggest that the FGFR3 gene may be the target of this abnormality and thus contribute to tumorigenesis in MM.", "output": {"entities": {"gene": [{"text": "FGFR3 gene", "start": 141, "end": 151}], "disease": [{"text": "tumorigenesis", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Iron regulatory proteins 1 and 2 (IRP1, IRP2) are key determinants of uptake and storage of iron by the liver, and are responsive to oxidative stress and hypoxia potentially at the level of both protein concentration and mRNA-binding activity.", "output": {"entities": {"gene": [{"text": "IRP1", "start": 34, "end": 38}], "disease": [{"text": "hypoxia", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "The current study was designed to analyze DNA methyltransferase expression by immunohistochemistry in a series of 94 Tunisian sporadic breast carcinomas.", "output": {"entities": {"gene": [{"text": "DNA methyltransferase", "start": 42, "end": 63}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In general, \" mit-\" mutations are responsible for non-RRF encephalopathies, while \" syn-\" and \" rho-\" mutations are associated with mitochondrial encephalomyopathies with RRF.", "output": {"entities": {"gene": [{"text": "RRF", "start": 54, "end": 57}], "disease": [{"text": "encephalopathies", "start": 58, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we hypothesized that the expression of CTGF might be modulated under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 50, "end": 54}], "disease": [{"text": "hypoxic", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease.", "output": {"entities": {"gene": [{"text": "MKS3", "start": 49, "end": 53}], "disease": [{"text": "COACH syndrome", "start": 26, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MKS3", "start": 49, "end": 53}, "tail": {"text": "COACH syndrome", "start": 26, "end": 40}}]}}, "schema": []}
{"input": "Successful self-cleavage of 2A-peptide induced synergistic antitumor effect in the liver of H-ras12V, the HCC model mice, by simultaneous activation of LETM1 (Leucine zipper/EF hand-containing transmembrane-1) and CTMP (carboxyl-terminal modulator protein).", "output": {"entities": {"gene": [{"text": "CTMP", "start": 214, "end": 218}], "disease": [{"text": "HCC", "start": 106, "end": 109}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "CTMP", "start": 214, "end": 218}, "tail": {"text": "HCC", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "TPH1, MAOA, serotonin receptor 2A and 2C genes in citalopram response: possible effect in melancholic and psychotic depression.", "output": {"entities": {"gene": [{"text": "MAOA", "start": 6, "end": 10}], "disease": [{"text": "psychotic depression", "start": 106, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAOA", "start": 6, "end": 10}, "tail": {"text": "psychotic depression", "start": 106, "end": 126}}]}}, "schema": []}
{"input": "We conclude that down-regulation of AIP and AHR may be involved in the aggressiveness of somatotrophinomas.", "output": {"entities": {"gene": [{"text": "AHR", "start": 44, "end": 47}], "disease": [{"text": "aggressiveness", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We investigated whether RBP4 adipose tissue mRNA expression and plasma level are related to insulin sensitivity during a diet-induced weight loss.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 24, "end": 28}], "disease": [{"text": "insulin sensitivity", "start": 92, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Human U87 astrocytoma cell invasion induced by interaction of βig-h3 with integrin α5β1 involves calpain-2.", "output": {"entities": {"gene": [{"text": "U87", "start": 6, "end": 9}], "disease": [{"text": "astrocytoma", "start": 10, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "In this study, we searched the plectin expression in 25 cases of colorectal adenocarcinoma and 10 cases of tubular adenoma with focal adenocarcinoma by immunohistochemical method.", "output": {"entities": {"gene": [{"text": "plectin", "start": 31, "end": 38}], "disease": [{"text": "tubular adenoma", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In conclusion a common haplotype in NAPEPLD, an enzyme involved in endocannabinoid synthesis, was protective against obesity.", "output": {"entities": {"gene": [{"text": "NAPEPLD", "start": 36, "end": 43}], "disease": [{"text": "obesity", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Absence of quasi-morphine withdrawal syndrome in adenosine A2A receptor knockout mice.", "output": {"entities": {"gene": [{"text": "adenosine A2A receptor", "start": 49, "end": 71}], "disease": [{"text": "withdrawal syndrome", "start": 26, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "adenosine A2A receptor", "start": 49, "end": 71}, "tail": {"text": "withdrawal syndrome", "start": 26, "end": 45}}]}}, "schema": []}
{"input": "Taking mosaic somatic mutation of PHEX into consideration is strongly suggested in genetic counseling and etiology research for XLHR.", "output": {"entities": {"gene": [{"text": "PHEX", "start": 34, "end": 38}], "disease": [{"text": "somatic mutation", "start": 14, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Ethylmalonic encephalopathy is an autosomal recessive, invariably fatal disorder characterized by early-onset encephalopathy, microangiopathy, chronic diarrhea, defective cytochrome c oxidase (COX) in muscle and brain, high concentrations of C4 and C5 acylcarnitines in blood and high excretion of ethylmalonic acid in urine.", "output": {"entities": {"gene": [{"text": "COX", "start": 193, "end": 196}], "disease": [{"text": "chronic diarrhea", "start": 143, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Our results establish DAXX as a pro-survival protein in PCa and reveal that, in the early stages of tumorigenesis, autophagy suppresses prostate tumor formation.", "output": {"entities": {"gene": [{"text": "DAXX", "start": 22, "end": 26}], "disease": [{"text": "tumorigenesis", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 8, "end": 17}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 71, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 8, "end": 17}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 71, "end": 109}}]}}, "schema": []}
{"input": "We found stronger associations between several smoking variables and alcohol intake and lung cancer risk among GPX1 (TT) carriers than among GPX1 (CC) and GPX1 (CT) carriers.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 111, "end": 115}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Respiratory tract infections with nontuberculous mycobacteria (NTM) are increasing in prevalence and are a significant cause of lung function decline in individuals with cystic fibrosis (CF).", "output": {"entities": {"gene": [{"text": "NTM", "start": 63, "end": 66}], "disease": [{"text": "cystic fibrosis", "start": 170, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Our findings demonstrate that synthesis of very long chain ceramides by CerS3 is a crucial early step for the skin barrier formation and link disorders presenting with congenital ichthyosis to defects in sphingolipid metabolism and the epidermal lipid architecture.", "output": {"entities": {"gene": [{"text": "CerS3", "start": 72, "end": 77}], "disease": [{"text": "congenital ichthyosis", "start": 168, "end": 189}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CerS3", "start": 72, "end": 77}, "tail": {"text": "congenital ichthyosis", "start": 168, "end": 189}}]}}, "schema": []}
{"input": "IMP3, CK8/18, and CK14 positivity were present in 20 (51%), 22 (56%), and 14 (36%) of 39 BRCA-mutated breast carcinomas, and 11 (20%), 53 (98%), and 24 (44%) of 54 sporadic breast carcinomas respectively.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 164, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Papillary renal carcinoma (PRC) comprises about 10% of all kidney epithelial tumors.", "output": {"entities": {"gene": [{"text": "PRC", "start": 27, "end": 30}], "disease": [{"text": "renal carcinoma", "start": 10, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "High expression of WNT7A and FGF1 are correlated in ovarian carcinomas and poor overall patient survival.", "output": {"entities": {"gene": [{"text": "WNT7A", "start": 19, "end": 24}], "disease": [{"text": "ovarian carcinomas", "start": 52, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WNT7A", "start": 19, "end": 24}, "tail": {"text": "ovarian carcinomas", "start": 52, "end": 70}}]}}, "schema": []}
{"input": "The relationship between ERK, akt mRNA, PI3K and cell vulnerability to betaGBP challenge was sustained both in mammary ductal cells forced to mimic an aggressive behaviour and in non-aggressive breast cancer cells undergoing an enforced shift into an aggressive phenotype.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 40, "end": 44}], "disease": [{"text": "aggressive behaviour", "start": 151, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We report that GPRC5B-deficient mice were protected from diet-induced obesity and insulin resistance because of reduced inflammation in their white adipose tissue.", "output": {"entities": {"gene": [{"text": "GPRC5B", "start": 15, "end": 21}], "disease": [{"text": "inflammation", "start": 120, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Of the astrocytoma associated hypermethylated genes, the methylation pattern of the CDH13, cyclin a1, DBCCR1, EPO, MYOD1, and p16INK4a genes changed in no more than 5. 66% (3/53) of astrocytoma tissues compared to non-astrocytoma controls, while the RASSF1A, p73, AR, MGMT, CDH1, OCT6, MT1A, WT1, and IRF7 genes were more frequently hypermethylated in 69. 8%, 47. 2%, 41. 5%, 35. 8%, 32%, 30. 2%, 30. 2%, 30. 2% and 26. 4% of astrocytoma tissues, respectively.", "output": {"entities": {"gene": [{"text": "CDH13", "start": 84, "end": 89}], "disease": [{"text": "astrocytoma", "start": 7, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The rs10788972 variant of the transcription elongation factor A (SII) N-terminal and central domain containing 2 (TCEANC2) gene in the PARK10 region was recently identified to be strongly related to sporadic PD in the American population.", "output": {"entities": {"gene": [{"text": "TCEANC2", "start": 114, "end": 121}], "disease": [{"text": "sporadic", "start": 199, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Seventy-eighty patients with ocular AD and 282 healthy control subjects were enrolled in an investigation of the association between the atopy-related genes (FCERB, IL13, and IFNGR1) and ocular AD.", "output": {"entities": {"gene": [{"text": "IL13", "start": 165, "end": 169}], "disease": [{"text": "atopy", "start": 137, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.", "output": {"entities": {"gene": [{"text": "Dedicator of cytokinesis 8", "start": 0, "end": 26}], "disease": [{"text": "developmental disabilities", "start": 84, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dedicator of cytokinesis 8", "start": 0, "end": 26}, "tail": {"text": "developmental disabilities", "start": 84, "end": 110}}]}}, "schema": []}
{"input": "Since IL4 and IL13 both serve as ligands for a receptor composed, in part, of the IL4R alpha chain, we looked for potential epistasis between polymorphisms in the IL4R locus on chromosome 16p11 and the five SNPs in the IL4 and IL13 loci on chromosome 5q31 and found, through use of a logistic-regression model, significant gene-gene interactions (P =. 045, corrected for multiple comparisons by permutation analysis).", "output": {"entities": {"gene": [{"text": "IL4", "start": 6, "end": 9}], "disease": [{"text": "regression", "start": 293, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the incidence of allelic imbalance at the BRCA1, BRCA2 and TP53 loci, in 82 sporadic breast carcinomas using a bank of highly polymorphic microsatellite markers located at the BRCA1, BRCA2 and TP53 regions.", "output": {"entities": {"gene": [{"text": "TP53", "start": 97, "end": 101}], "disease": [{"text": "sporadic", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to determine the potential cochlear protective effect of Bcl-x (L) as a therapeutic agent in the murine model of aminoglycoside ototoxicity.", "output": {"entities": {"gene": [{"text": "Bcl-x", "start": 83, "end": 88}], "disease": [{"text": "ototoxicity", "start": 154, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.", "output": {"entities": {"gene": [{"text": "SLC29A3", "start": 0, "end": 7}], "disease": [{"text": "pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome", "start": 27, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC29A3", "start": 0, "end": 7}, "tail": {"text": "pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome", "start": 27, "end": 101}}]}}, "schema": []}
{"input": "In mice those lack an active PC2, exacerbated brain injury was observed after an otherwise non-lethal focal ischemia.", "output": {"entities": {"gene": [{"text": "PC2", "start": 29, "end": 32}], "disease": [{"text": "ischemia", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "To verify the targeting and effectiveness of GOLPH2-regulated oncolytic adenovirus GD55 in HCC, the anticancer capacity was investigated in HCC cell lines and animal model.", "output": {"entities": {"gene": [{"text": "HCC", "start": 91, "end": 94}], "disease": [{"text": "adenovirus", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Genotype/allele frequencies in C1236T, G2677T/A and C3435T SNPs of ABCB1 were obtained from 99 tuberculosis patients susceptible or resistant to RMP and ETB (NoRER or RER).", "output": {"entities": {"gene": [{"text": "RER", "start": 160, "end": 163}], "disease": [{"text": "tuberculosis", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the relationship between the slope of change of viral load and HLA class II haplotype indicated a significantly different slope of change of viral load between the alleles of (1) DRB1 (*) 15 and DRB1 (*) 0701, and (2) DQB1 (*) 0602 and DQB1 (*) 0201, P (c) =. 036 and P (c) =. 026 after Bonferroni correction for multiple comparisons, respectively.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 191, "end": 195}], "disease": [{"text": "viral load", "start": 60, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Although SOD1 dimer dissociation is a known requirement for its aggregation, the common structural basis for diverse FALS mutations resulting in aggregation is not fully understood.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 9, "end": 13}], "disease": [{"text": "dissociation", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Serum concentrations of C-reactive protein, adiponectin, resistin, interleukin-6, tumor necrosis factor-alpha, and monocyte chemoattractant protein-1 were significantly higher in the ESRD versus control group.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 24, "end": 42}], "disease": [{"text": "ESRD", "start": 183, "end": 187}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C-reactive protein", "start": 24, "end": 42}, "tail": {"text": "ESRD", "start": 183, "end": 187}}]}}, "schema": []}
{"input": "To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD) and to look for genotype-phenotype correlations.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 29, "end": 34}], "disease": [{"text": "LCD", "start": 91, "end": 94}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBI", "start": 29, "end": 34}, "tail": {"text": "LCD", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "To investigate possible association of the non-classical APOE gene + 113C/G (rs440446) intron 1 enhancer polymorphism with bone mineral density (BMD) in a homogeneous Chinese population in Singapore.", "output": {"entities": {"gene": [{"text": "APOE gene", "start": 57, "end": 66}], "disease": [{"text": "bone mineral density", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "METHODS: We compared the pathological phenotype of BRCA1/BRCA2 negative familial breast cancer (BRCAx) to BRCA1-positive, BRCA2-positive and sporadic cases without a family history.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 57, "end": 62}], "disease": [{"text": "sporadic", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "We first determined that EPOR expression and activation were increased and that activated EPOR was localized to retinal vascular endothelial cells (ECs) in retinas at postnatal day 18 (p18), when pathological angiogenesis in the form of intravitreal neovascularization occurred.", "output": {"entities": {"gene": [{"text": "p18", "start": 185, "end": 188}], "disease": [{"text": "neovascularization", "start": 250, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "The highest expression of CCL4/RANTES, CCL2/MCP-1, and CCL3/MIP-1alpha in the eye was detected at onset of clinical uveitis, whereas CCL4/MIP-1beta was elevated at the peak of AU.", "output": {"entities": {"gene": [{"text": "CCL3", "start": 55, "end": 59}], "disease": [{"text": "uveitis", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive malignancy characterized cytogenetically by a unique translocation of chromosomes 11 and 22 [t (11: 22) (p13: ql2)], resulting in fusion of the EWS and WT1 genes.", "output": {"entities": {"gene": [{"text": "EWS", "start": 210, "end": 213}], "disease": [{"text": "translocation", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Changes in circulating levels of HIV, CD4, and tissue expression of HIV in a patient with recent-onset ulcerative colitis treated by surgery. Case report.", "output": {"entities": {"gene": [{"text": "CD4", "start": 38, "end": 41}], "disease": [{"text": "ulcerative colitis", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Pretransplant hepatitis B virus DNA (P = 0. 014), pretransplant serum alpha-fetoprotein (P = 0. 035), number of nodules (P = 0. 011), diameter of main nodule (P = 0. 001), macrovascular invasion (P = 0. 001), microvascular invasion (P = 0. 001), HCC exceeding the Milan criteria (P < 0. 001), and donor rs2069852 AA genotype (P = 0. 010) were associated with HCC recurrence.", "output": {"entities": {"gene": [{"text": "HCC", "start": 246, "end": 249}], "disease": [{"text": "nodule", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that somatic BRCA1 mutations, like somatic mutations in the BRCA2 gene, though very rare, can be found in both breast and ovarian cancers and support a tumor suppressor function for BRCA1 in sporadic tumors.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 81, "end": 91}], "disease": [{"text": "sporadic", "start": 212, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13.", "output": {"entities": {"gene": [{"text": "Esterase D", "start": 0, "end": 10}], "disease": [{"text": "abnormalities", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "A pharmacological inhibitor of p110 & #947; (encoded by PIK3CG) impaired cell proliferation in medulloblastoma cell lines and sensitized the cells to cisplatin treatment.", "output": {"entities": {"gene": [{"text": "PIK3CG", "start": 56, "end": 62}], "disease": [{"text": "medulloblastoma", "start": 95, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIK3CG", "start": 56, "end": 62}, "tail": {"text": "medulloblastoma", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "In contrast, reduced RBP4 levels were observed in type 1 diabetes (T1D).", "output": {"entities": {"gene": [{"text": "RBP4", "start": 21, "end": 25}], "disease": [{"text": "type 1 diabetes", "start": 50, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia induced TGF-β1 expression in PC3 prostate cancer cells, and the TGF-β type I receptor (ALK5) kinase inhibitor partially blocked hypoxia-mediated VEGFA (165) secretion.", "output": {"entities": {"gene": [{"text": "ALK5", "start": 95, "end": 99}], "disease": [{"text": "hypoxia", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 17, "end": 38}], "disease": [{"text": "Hunter disease", "start": 72, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 17, "end": 38}, "tail": {"text": "Hunter disease", "start": 72, "end": 86}}]}}, "schema": []}
{"input": "Recently, deletions of the neuronal apoptosis inhibitory protein gene NAIP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood-onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system.", "output": {"entities": {"gene": [{"text": "NAIP", "start": 70, "end": 74}], "disease": [{"text": "proximal spinal muscular atrophy", "start": 192, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T & gt; C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A & gt; C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene.", "output": {"entities": {"gene": [{"text": "COX3", "start": 245, "end": 249}], "disease": [{"text": "MELAS", "start": 81, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COX3", "start": 245, "end": 249}, "tail": {"text": "MELAS", "start": 81, "end": 86}}]}}, "schema": []}
{"input": "We studied the domain-specific Smad3 phosphorylation in biopsy specimens representing chronic hepatitis, cirrhosis, or HCC from 100 patients chronically infected with HCV, and correlated Smad3 phosphorylation with clinical course.", "output": {"entities": {"gene": [{"text": "HCC", "start": 119, "end": 122}], "disease": [{"text": "chronic hepatitis", "start": 86, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Resveratrol improved systemic insulin sensitivity of Irs2-deficient mice.", "output": {"entities": {"gene": [{"text": "Irs2", "start": 53, "end": 57}], "disease": [{"text": "insulin sensitivity", "start": 30, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Irs2", "start": 53, "end": 57}, "tail": {"text": "insulin sensitivity", "start": 30, "end": 49}}]}}, "schema": []}
{"input": "The involvement of STRAD in 42 PJS associated tumours (sporadic lung, colon, gastric, and ovarian adenocarcinomas) was studied using loss of heterozygosity (LOH) analysis of eight microsatellite markers on chromosome 17, including TP53, BRCA1, and STRAD markers.", "output": {"entities": {"gene": [{"text": "TP53", "start": 231, "end": 235}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Testing should be based on the phenotype for antithrombin, protein C and protein S; on the phenotype and genotype (factor V Leiden mutation) for activated protein C resistance; and on the genotype (G20210A mutation) for hyperprothrombinemia.", "output": {"entities": {"gene": [{"text": "protein S", "start": 73, "end": 82}], "disease": [{"text": "hyperprothrombinemia", "start": 220, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Global quantitative analysis of the hypoxic secretome identified lysyl oxidase (LOX) as significantly associated with bone-tropism and relapse.", "output": {"entities": {"gene": [{"text": "LOX", "start": 80, "end": 83}], "disease": [{"text": "hypoxic", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Here, the entire genomic DNA sequence and mutations in the ASS gene of patients with the classical and mild form of the disease are described.", "output": {"entities": {"gene": [{"text": "ASS", "start": 59, "end": 62}], "disease": [{"text": "mild", "start": 103, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Single nucleotide polymorphisms in IL-13 are associated with allergic phenotypes in several ethnically diverse populations. This study was performed in 214 atopic patients (asthma n = 108, allergic rhinitis n = 106) and sex-matched healthy controls (n = 120).", "output": {"entities": {"gene": [{"text": "allergic rhinitis", "start": 189, "end": 206}], "disease": [{"text": "atopic", "start": 156, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "In 638 subjects including 303 patients with HCC, 89 with chronic hepatitis (CH), 45 with liver cirrhosis (LC) and 201 healthy individuals, we quantified serum hTERTmRNA using the real-time RT-PCR.", "output": {"entities": {"gene": [{"text": "HCC", "start": 44, "end": 47}], "disease": [{"text": "chronic hepatitis", "start": 57, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "DNA topoisomerase 1 and 2A function as oncogenes in liver cancer and may be direct targets of nitidine chloride.", "output": {"entities": {"gene": [{"text": "DNA topoisomerase 1", "start": 0, "end": 19}], "disease": [{"text": "liver cancer", "start": 52, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNA topoisomerase 1", "start": 0, "end": 19}, "tail": {"text": "liver cancer", "start": 52, "end": 64}}]}}, "schema": []}
{"input": "The TOP3B gene encodes a protein that seems to function in the unlinking of parental strands at the final stage of DNA replication and/or in the dissociation of structures in mitotic cells that could lead to recombination.", "output": {"entities": {"gene": [{"text": "TOP3B gene", "start": 4, "end": 14}], "disease": [{"text": "dissociation", "start": 145, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.", "output": {"entities": {"gene": [{"text": "NBEAL2", "start": 28, "end": 34}], "disease": [{"text": "gray platelet syndrome", "start": 61, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NBEAL2", "start": 28, "end": 34}, "tail": {"text": "gray platelet syndrome", "start": 61, "end": 83}}]}}, "schema": []}
{"input": "Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, comprehensive open reading frame/splice-site mutational analysis of KCNJ8 was performed on genomic DNA isolated from necropsy tissue on 292 unrelated SIDS cases (178 males, 204 white; age, 2. 9 & #177; 1. 9 months).", "output": {"entities": {"gene": [{"text": "KCNJ8", "start": 172, "end": 177}], "disease": [{"text": "SIDS", "start": 254, "end": 258}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ8", "start": 172, "end": 177}, "tail": {"text": "SIDS", "start": 254, "end": 258}}]}}, "schema": []}
{"input": "These observations suggest the contribution of the CCR1-CCL3 axis to HCC progression.", "output": {"entities": {"gene": [{"text": "CCR1", "start": 51, "end": 55}], "disease": [{"text": "HCC", "start": 69, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCR1", "start": 51, "end": 55}, "tail": {"text": "HCC", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "Furthermore, Ang II increases Atox1 binding to the copper exporter ATP7A, which obtains copper from Atox1, as well as translocation of ATP7A to plasma membranes, where it colocalizes with SOD3.", "output": {"entities": {"gene": [{"text": "Atox1", "start": 30, "end": 35}], "disease": [{"text": "translocation", "start": 118, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Prior to pithing, systolic blood pressure (SBP) and diastolic blood pressure (DBP) were recorded via an intra-arterial catheter from sodium pentobarbital anaesthetized rats.", "output": {"entities": {"gene": [{"text": "DBP", "start": 78, "end": 81}], "disease": [{"text": "systolic blood pressure", "start": 18, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Fifty four hepatic nodules including 5 large regenerative nodules, 14 low-grade DNs, 7 high-grade DNs, 11 DNs with HCC foci and 17 HCCs, 23 livers with chronic hepatitis/cirrhosis, and 6 normal livers were examined.", "output": {"entities": {"gene": [{"text": "HCC", "start": 115, "end": 118}], "disease": [{"text": "chronic hepatitis", "start": 152, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Met/Met carriers had higher adjusted systolic blood pressure (SBP) (+ 4. 79 mm Hg, P < 0. 001) and diastolic blood pressure (DBP) (+ 2. 33 mm Hg, P = 0. 001) than Met/Val or Val/Val carriers.", "output": {"entities": {"gene": [{"text": "DBP", "start": 125, "end": 128}], "disease": [{"text": "systolic blood pressure", "start": 37, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate the allelic heterogeneity of HMBS mutations in AIP patients of German origin.", "output": {"entities": {"gene": [{"text": "HMBS", "start": 53, "end": 57}], "disease": [{"text": "AIP", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HMBS", "start": 53, "end": 57}, "tail": {"text": "AIP", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "The identification of POT1 as a new frequently mutated gene in CLL may facilitate novel approaches for the clinical management of this disease.", "output": {"entities": {"gene": [{"text": "POT1", "start": 22, "end": 26}], "disease": [{"text": "CLL", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "POT1", "start": 22, "end": 26}, "tail": {"text": "CLL", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "Administration of CRH, an age-specific endogenous convulsant, resulted in a prolonged series of seizures after 2-to 55-min latency.", "output": {"entities": {"gene": [{"text": "CRH", "start": 18, "end": 21}], "disease": [{"text": "seizures", "start": 96, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRH", "start": 18, "end": 21}, "tail": {"text": "seizures", "start": 96, "end": 104}}]}}, "schema": []}
{"input": "Putative miR-21 targets, including bone morphogenetic protein receptor (BMPR2), WWP1, SATB1, and YOD1, were downregulated in the lungs of hypoxia-exposed mice and in human pulmonary artery smooth muscle cells (PASMCs) overexpressing miR-21.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 9, "end": 15}], "disease": [{"text": "hypoxia", "start": 138, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We examined these variants located in or near the JAZF1 (rs864745), THADA (rs7578597), TSPAN8 (rs7961581), ADAMTS9 (rs4607103), NOTCH2 (rs10923931) and the CDC123/CAMK1D (rs12779790) genes for associations with measures of pancreatic beta-cell function and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "CAMK1D", "start": 163, "end": 169}], "disease": [{"text": "insulin sensitivity", "start": 257, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "HCC with nuclear c-Yes was detected in 5 of 39 cases (13. 0%), and nuclear c-Yes expression was not detected in normal, chronic hepatitis or cirrhotic livers.", "output": {"entities": {"gene": [{"text": "HCC", "start": 0, "end": 3}], "disease": [{"text": "chronic hepatitis", "start": 120, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "We identified 5 somatic BRCA2 mutations in a set of 23 sporadic male breast cancers (21%).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 24, "end": 29}], "disease": [{"text": "breast cancers", "start": 69, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 24, "end": 29}, "tail": {"text": "breast cancers", "start": 69, "end": 83}}]}}, "schema": []}
{"input": "As previous studies of FATE/BJ-HCC-2 expression pattern were mainly based on messenger RNA (mRNA) analysis, it is necessary to investigate its actual protein expression pattern in tumor tissues for the evaluation of its application value.", "output": {"entities": {"gene": [{"text": "HCC-2", "start": 31, "end": 36}], "disease": [{"text": "tumor", "start": 180, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The beta3-subunit carries the human platelet alloantigen (HPA)-1a, which is the main target for alloantibodies (alloabs) responsible for foetal and neonatal alloimmune thrombocytopenia (FNAIT) and post-transfusion purpura (PTP).", "output": {"entities": {"gene": [{"text": "beta3", "start": 4, "end": 9}], "disease": [{"text": "purpura", "start": 214, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Regulating mda-9/syntenin expression using a replication-incompetent adenovirus expressing either sense or antisense mda-9/syntenin modifies the transformed phenotype and alters metastatic ability in immortal human melanocytes and metastatic melanoma cells in vitro and in vivo in newborn rats.", "output": {"entities": {"gene": [{"text": "syntenin", "start": 17, "end": 25}], "disease": [{"text": "adenovirus", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein B (apoB) is a major importance to the metabolism of lipoproteins, and there is also evidence which suggests that apoB plays a central role in atherogenesis.", "output": {"entities": {"gene": [{"text": "Apolipoprotein B", "start": 0, "end": 16}], "disease": [{"text": "atherogenesis", "start": 157, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Several epidemiological designs were used: retrospective investigations on dust exposure, case-control studies of 184 silicosis cases and 111 miners occupationally exposed to silica dust, and 1: 2 matched case-control studies of 61 PTB cases and 122 PTB-free miners.", "output": {"entities": {"gene": [{"text": "PTB", "start": 232, "end": 235}], "disease": [{"text": "silicosis", "start": 118, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Thrombomodulin (TM) or tissue factor (TF) transcription of mRNA of freshly isolated bone marrow blast from APL patients was detected by semi-quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "Thrombomodulin", "start": 0, "end": 14}], "disease": [{"text": "APL", "start": 107, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Thrombomodulin", "start": 0, "end": 14}, "tail": {"text": "APL", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.", "output": {"entities": {"gene": [{"text": "COL25A1", "start": 10, "end": 17}], "disease": [{"text": "Duane syndrome", "start": 74, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL25A1", "start": 10, "end": 17}, "tail": {"text": "Duane syndrome", "start": 74, "end": 88}}]}}, "schema": []}
{"input": "In addition, six autosomal abnormalities associated with azoospermia and two abnormalities involving Y chromosome, which include a novel karyotype (mos 46, XY/51, XYYYYYY) in OAT individuals, were detected.", "output": {"entities": {"gene": [{"text": "OAT", "start": 175, "end": 178}], "disease": [{"text": "abnormalities", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Finally, in a series of adenocarcinoma patients, the expression of five of the deregulated genes (ADAR2, MARS, RAE, SNRPB and SNRPE) correlated with prognosis.", "output": {"entities": {"gene": [{"text": "SNRPB", "start": 116, "end": 121}], "disease": [{"text": "adenocarcinoma", "start": 24, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.", "output": {"entities": {"gene": [{"text": "DNMT3A", "start": 17, "end": 23}], "disease": [{"text": "dwarfism", "start": 54, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DNMT3A", "start": 17, "end": 23}, "tail": {"text": "dwarfism", "start": 54, "end": 62}}]}}, "schema": []}
{"input": "The role (s) of p38δ and active (phosphorylated) p38δ (p-p38δ) in oesophageal squamous cell carcinoma (OESCC) was delineated using wild-type p38δ as well as active p-p38δ, generated by fusing p38δ to its upstream activator MKK6b (E) via a decapeptide (Gly-Glu) 5 linker.", "output": {"entities": {"gene": [{"text": "p38δ", "start": 16, "end": 20}], "disease": [{"text": "squamous cell carcinoma", "start": 78, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Regulation of DDAH1 by miR-21 plays a role in the development of hypoxia-induced pulmonary hypertension and may be of broader significance in pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "DDAH1", "start": 14, "end": 19}], "disease": [{"text": "pulmonary hypertension", "start": 81, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We suggest that the p50 subunit could limit the prohypertrophic actions of c-Rel in the normal heart, because p50 overexpression in H9c2 cells repressed c-Rel levels and the absence of cardiac p50 was associated with increases in both c-Rel levels and cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "p50", "start": 20, "end": 23}], "disease": [{"text": "cardiac hypertrophy", "start": 252, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, CCN2 protects cells from hypoxia-mediated apoptosis, providing an in vivo selection for tumor cells that express high levels of CCN2.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these results demonstrate that the mutated GPR10 receptor is responsible for the hyperphagia leading to obesity and dyslipidaemia in the obese diabetic strain rat.", "output": {"entities": {"gene": [{"text": "GPR10", "start": 59, "end": 64}], "disease": [{"text": "hyperphagia", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "To determine if the presence of prothrombotic polymorphisms, such as factor V G1691A (factor V Leiden) or factor II G20210A, affect the length of secondary postpartum bleeding.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 86, "end": 101}], "disease": [{"text": "postpartum bleeding", "start": 156, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the numbers of polyps more than 2. 5 mm in diameter were markedly decreased by combined treatment of both COX inhibitors.", "output": {"entities": {"gene": [{"text": "COX", "start": 116, "end": 119}], "disease": [{"text": "polyps", "start": 25, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "We conclude that biochemical and molecular analysis of Gsalpha and its gene GNAS1 can be valuable tools to confirm the diagnosis of AHO.", "output": {"entities": {"gene": [{"text": "GNAS1", "start": 76, "end": 81}], "disease": [{"text": "AHO", "start": 132, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS1", "start": 76, "end": 81}, "tail": {"text": "AHO", "start": 132, "end": 135}}]}}, "schema": []}
{"input": "To investigate the association between the genotypes of the XRCC1-Arg399Gln (rs25487) and ERCC4-Arg415Gln (rs1800067) polymorphisms and smoking-and drinking-related larynx cancer in a Polish population.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 60, "end": 65}], "disease": [{"text": "smoking", "start": 136, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The present investigation examined the regulation and functional significance of compromised PI3-K in suicide brain at the level of upstream phosphatase and tensin homologue on chromosome ten (PTEN) and downstream substrates 3-phosphoinositide-dependent kinase 1 (PDK1) and Akt.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 193, "end": 197}], "disease": [{"text": "suicide", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that silencing of either SR-A or CD36 alone reduces atherogenesis in mice.", "output": {"entities": {"gene": [{"text": "CD36", "start": 53, "end": 57}], "disease": [{"text": "atherogenesis", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Analyses were then stratified by antigen specific anti-citrullinated peptide antibody (ACPA) status including antibody to citrullinated fibrinogen and citrullinated histone H2B.", "output": {"entities": {"gene": [{"text": "ACPA", "start": 87, "end": 91}], "disease": [{"text": "fibrinogen", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In this study, we describe the identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients, and in BPES families where the type could not be established.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 72, "end": 77}], "disease": [{"text": "BPES", "start": 86, "end": 90}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXL2", "start": 72, "end": 77}, "tail": {"text": "BPES", "start": 86, "end": 90}}]}}, "schema": []}
{"input": "ENH is up-regulated during neural differentiation, and its ectopic expression in neuroblastoma cells leads to translocation of Id2 from the nucleus to the cytoplasm, with consequent inactivation of transcriptional and cell-cycle-promoting functions of Id2.", "output": {"entities": {"gene": [{"text": "Id2", "start": 127, "end": 130}], "disease": [{"text": "translocation", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Functional in vivo interactions between JNK1 and JNK2 isoforms in obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "JNK2", "start": 49, "end": 53}], "disease": [{"text": "insulin resistance", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The GSTP1 Val allele shows an interaction with smoking, alcohol consumption, and especially H. pylori infection for increasing the risk of gastric cancer.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 4, "end": 9}], "disease": [{"text": "alcohol consumption", "start": 56, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "To model human sporadic CRC, we administered the genotoxic agent azoxymethane (AOM) to villin-TLR4 and WT mice.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 94, "end": 98}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "We infected DU145 prostate carcinoma cells with an Mxi1-expressing adenovirus (AdMxi1) in vitro, and measured Mxi1 expression, cell proliferation, soft agar colony formation, and cell cycle distribution.", "output": {"entities": {"gene": [{"text": "Mxi1", "start": 51, "end": 55}], "disease": [{"text": "adenovirus", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, hypoxia promoted the expansion of CSCs expressing CD133 and CD44 accompanied by an increase of stem cell factors.", "output": {"entities": {"gene": [{"text": "CD44", "start": 75, "end": 79}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "In the present study, the role of CTGF was examined in a rat model of pulmonary fibrosis induced by PQ poisoning.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 34, "end": 38}], "disease": [{"text": "pulmonary fibrosis", "start": 70, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTGF", "start": 34, "end": 38}, "tail": {"text": "pulmonary fibrosis", "start": 70, "end": 88}}]}}, "schema": []}
{"input": "To test whether Nrf2 activation would exert therapeutic efficacy against cardiopulmonary changes in a hypoxia-induced PH model, wild-type (WT) and Nrf2-deficient mice as well as Kelch-like ECH associating protein 1 (Keap1) (negative regulator of Nrf2) knockdown mutant mice were exposed to hypobaric hypoxia for 3 weeks.", "output": {"entities": {"gene": [{"text": "Keap1", "start": 216, "end": 221}], "disease": [{"text": "hypoxia", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Using a human fibrosarcoma cell, HT1080 and a human gastric cancer cell, TMK-1, endogenous expression of MT1-MMP or MT2-MMP was suppressed by siRNA induction to examine the influence of cancer progression in vitro and in vivo.", "output": {"entities": {"gene": [{"text": "MT2-MMP", "start": 116, "end": 123}], "disease": [{"text": "fibrosarcoma", "start": 14, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "A prospective longitudinal study was carried out in children enrolled from two rural Indian villages at birth and followed weekly for the development of ARI, classified as upper respiratory infection, acute lower respiratory infection (ALRI), or severe ALRI.", "output": {"entities": {"gene": [{"text": "ARI", "start": 153, "end": 156}], "disease": [{"text": "lower respiratory infection", "start": 207, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Blood samples were taken to determine insulin resistance, adiponectin, lipoproteins, and C-reactive protein.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 89, "end": 107}], "disease": [{"text": "insulin resistance", "start": 38, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "All of the neuroblastoma cell lines we examined expressed significant levels of SHH ligand, suggesting an autocrine, ligand-dependent activation of the SHH pathway in neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "SHH", "start": 80, "end": 83}], "disease": [{"text": "neuroblastoma", "start": 11, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Dysbetalipoproteinaemia: a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 93, "end": 109}], "disease": [{"text": "Dysbetalipoproteinaemia", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "apolipoprotein E", "start": 93, "end": 109}, "tail": {"text": "Dysbetalipoproteinaemia", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "We assessed whether intron 4 (TTTA) n repeat and TCT deletion/insertion polymorphisms and an exon 10 (3'-UTR) C/T single nucleotide polymorphism of CYP19 are associated with gynecomastia.", "output": {"entities": {"gene": [{"text": "UTR", "start": 105, "end": 108}], "disease": [{"text": "gynecomastia", "start": 174, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "The CT genotype of rs1172822 in the BRSK1 (BR serine/threonine kinase 1) gene was negatively associated with serum AMH levels in our cohort (odds ratio: 3. 15, 95% confidence interval: 1. 35-7. 32, P = 0. 008) and significantly associated with the predicted age at menopause (P = 0. 04).", "output": {"entities": {"gene": [{"text": "AMH", "start": 115, "end": 118}], "disease": [{"text": "age at menopause", "start": 258, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "We report a germ-line mutation in the gene encoding PRKAR1A, the cyclic AMP (cAMP)-dependent regulatory subunit of protein kinase A, in three unrelated patients with acrodysostosis and resistance to multiple hormones.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 52, "end": 59}], "disease": [{"text": "acrodysostosis", "start": 166, "end": 180}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRKAR1A", "start": 52, "end": 59}, "tail": {"text": "acrodysostosis", "start": 166, "end": 180}}]}}, "schema": []}
{"input": "We conclude that U1i represents an alternative to RNAi for the therapeutic silencing of pathologically upregulated genes and demonstrate the functional relevance of Pim-1 oncogene knockdown in glioblastoma.", "output": {"entities": {"gene": [{"text": "Pim-1 oncogene", "start": 165, "end": 179}], "disease": [{"text": "glioblastoma", "start": 193, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pim-1 oncogene", "start": 165, "end": 179}, "tail": {"text": "glioblastoma", "start": 193, "end": 205}}]}}, "schema": []}
{"input": "In 20 patients with sporadic medullary thyroid carcinoma (MTC), immuno-histochemistry was used to localize the expression of the c-Myc oncoprotein, transforming growth factor alpha (TGF-alpha) and epidermal growth factor receptor (EGFR) and these three markers were analysed regarding their relation to histopathological and histochemical variables of the tumours.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 231, "end": 235}], "disease": [{"text": "sporadic", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We measured the impact of this exposure on locomotor activity, anxiety, prepulse inhibition (PPI), body temperature and FosB/ΔFosB immunohistochemistry.", "output": {"entities": {"gene": [{"text": "FosB", "start": 120, "end": 124}], "disease": [{"text": "anxiety", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Therefore, a significant downregulation of beta-synuclein mRNA expression appears to be a suitable biomarker for the diagnosis of schizophrenia.", "output": {"entities": {"gene": [{"text": "beta-synuclein", "start": 43, "end": 57}], "disease": [{"text": "schizophrenia", "start": 130, "end": 143}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-synuclein", "start": 43, "end": 57}, "tail": {"text": "schizophrenia", "start": 130, "end": 143}}]}}, "schema": []}
{"input": "The mitochondrial electron transport chain enzyme cytochrome c oxidase (COX) is defective in patients with sporadic Alzheimer' s disease (AD).", "output": {"entities": {"gene": [{"text": "COX", "start": 72, "end": 75}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that the increased IL-1beta expressions in the prefrontal cortex and hippocampus induced by norfloxacin with biphenylacetic acid relate to seizure activities, and that these brain regions play pivotal roles in norfloxacin-induced convulsions.", "output": {"entities": {"gene": [{"text": "IL-1beta", "start": 39, "end": 47}], "disease": [{"text": "convulsions", "start": 250, "end": 261}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1beta", "start": 39, "end": 47}, "tail": {"text": "convulsions", "start": 250, "end": 261}}]}}, "schema": []}
{"input": "This confirms that SAMS is a human malformation syndrome resulting from GSC mutations.", "output": {"entities": {"gene": [{"text": "GSC", "start": 72, "end": 75}], "disease": [{"text": "SAMS", "start": 19, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GSC", "start": 72, "end": 75}, "tail": {"text": "SAMS", "start": 19, "end": 23}}]}}, "schema": []}
{"input": "The protein kinase activities of prostasomes isolated from seminal fluid and malignant prostate cell lines (PC-3, DU145, and LNCaP) were investigated using the model phosphorylation substrates histone and casein, as well as the plasma proteins C3 and fibrinogen, in combination with specific protein kinase inhibitors.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 108, "end": 112}], "disease": [{"text": "fibrinogen", "start": 251, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Structure, expression and chromosome mapping of MLZE, a novel gene which is preferentially expressed in metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "MLZE", "start": 48, "end": 52}], "disease": [{"text": "metastatic melanoma", "start": 104, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "This association between apparent therapy-induced differentiation in Ewing sarcoma and absence of detectable fusion transcripts in the residual tumor provides presumptive evidence that EWS/FLI1 expression may inhibit differentiation in tumour cells.", "output": {"entities": {"gene": [{"text": "EWS", "start": 185, "end": 188}], "disease": [{"text": "residual tumor", "start": 135, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Low concentrations of GSNO increased Sp3 binding, as well as Sp3-dependent transcription of the cystic fibrosis transmembrane conductance regulatory gene, cftr.", "output": {"entities": {"gene": [{"text": "Sp3", "start": 37, "end": 40}], "disease": [{"text": "cystic fibrosis", "start": 96, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Infection of metastatic melanoma cells with Ad. mda-7 results in an increase in cells in the G (2)/M phase of the cell cycle and changes in the ratio of pro-apoptotic (BAX, BAK) to anti-apoptotic (BCL-2, BCL-XL) proteins.", "output": {"entities": {"gene": [{"text": "BAK", "start": 173, "end": 176}], "disease": [{"text": "metastatic melanoma", "start": 13, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The FATE/BJ-HCC-2 antigen was also expressed in other tumor tissues.", "output": {"entities": {"gene": [{"text": "HCC-2", "start": 12, "end": 17}], "disease": [{"text": "tumor", "start": 54, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Global ischemia led to extensive cell death in the striatum, thalamus, and in the CA1 and CA2, and less-pronounced cell death in the CA3 and dentate gyrus (DG) hippocampal subfields.", "output": {"entities": {"gene": [{"text": "CA1", "start": 82, "end": 85}], "disease": [{"text": "ischemia", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "In early AD, male butyrylcholinesterase K-variant carriers with one or two apolipoprotein ɛ4 alleles have prominent medial temporal atrophy, synaptic failure, cognitive decline, and accumulation of aggregated beta-amyloid peptide.", "output": {"entities": {"gene": [{"text": "butyrylcholinesterase", "start": 18, "end": 39}], "disease": [{"text": "atrophy", "start": 132, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype.", "output": {"entities": {"gene": [{"text": "ltbp3", "start": 158, "end": 163}], "disease": [{"text": "GD", "start": 46, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ltbp3", "start": 158, "end": 163}, "tail": {"text": "GD", "start": 46, "end": 48}}]}}, "schema": []}
{"input": "At the functional level, these regulations correlated with a repression of the Notch target gene Hes1 and the atrophy/remodeling gene MuRF1.", "output": {"entities": {"gene": [{"text": "Hes1", "start": 97, "end": 101}], "disease": [{"text": "atrophy", "start": 110, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "We describe a new approach to stabilize nonsense mRNA, based on the inhibition of the NMD mechanism, by combining cycloheximide-mediated inhibition of translation, and caffeine-mediated inhibition of UPF1 phosphorylation.", "output": {"entities": {"gene": [{"text": "UPF1", "start": 200, "end": 204}], "disease": [{"text": "caffeine", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Inflammatory markers such as C-reactive protein (CRP) are associated with insulin resistance, adiposity, and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "CRP", "start": 49, "end": 52}], "disease": [{"text": "insulin resistance", "start": 74, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Lack of association between dendritic cell nuclear protein-1 gene and major depressive disorder in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "dendritic cell nuclear protein-1", "start": 28, "end": 60}], "disease": [{"text": "major depressive disorder", "start": 70, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dendritic cell nuclear protein-1", "start": 28, "end": 60}, "tail": {"text": "major depressive disorder", "start": 70, "end": 95}}]}}, "schema": []}
{"input": "We conclude that, although it has been speculated that the N-terminus CFTR missense variants may severely affect the behaviour of the CFTR chloride channel, patients with the P5L CFTR mutation, in association with a severe class II mutation, may be asymptomatic or may be affected by mild disease.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 70, "end": 74}], "disease": [{"text": "asymptomatic", "start": 249, "end": 261}]}, "relations": {}}, "schema": []}
{"input": "Tumor cell migration, invasion, and angiogenesis are important determinants of tumor aggressiveness, and these traits have been associated with the motility stimulating protein autotaxin (ATX).", "output": {"entities": {"gene": [{"text": "ATX", "start": 188, "end": 191}], "disease": [{"text": "aggressiveness", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "IL-8 increased NF-κB and Akt activities and adhesion molecules ICAM-1, VCAM-1, and CD44 expression in GC cells.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 15, "end": 20}], "disease": [{"text": "adhesion", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 56, "end": 60}], "disease": [{"text": "leukoencephalopathy", "start": 163, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RHOA", "start": 56, "end": 60}, "tail": {"text": "leukoencephalopathy", "start": 163, "end": 182}}]}}, "schema": []}
{"input": "The depression-like behavior was virtually abolished in TNF & #945; p55 receptor-knockout mice, and increased B1 receptor mRNA expression was completely absent in this mouse strain.", "output": {"entities": {"gene": [{"text": "p55", "start": 68, "end": 71}], "disease": [{"text": "depression", "start": 4, "end": 14}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p55", "start": 68, "end": 71}, "tail": {"text": "depression", "start": 4, "end": 14}}]}}, "schema": []}
{"input": "CONCLUSIONS: Complex, protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 loss, therefore, the presence of these types of TP53 mutations in sporadic BLBCs might be a hallmark of BRCAness and a potential biomarker for sensitivity to PARP inhibition.", "output": {"entities": {"gene": [{"text": "TP53", "start": 41, "end": 45}], "disease": [{"text": "sporadic", "start": 213, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 76, "end": 104}], "disease": [{"text": "gonadotropin-independent precocious puberty", "start": 126, "end": 169}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 76, "end": 104}, "tail": {"text": "gonadotropin-independent precocious puberty", "start": 126, "end": 169}}]}}, "schema": []}
{"input": "One MAN1 disruption mutant, man1, which showed poor capsule formation, reduced polysaccharide secretion and morphological abnormalities, was chosen for virulence studies.", "output": {"entities": {"gene": [{"text": "man1", "start": 28, "end": 32}], "disease": [{"text": "abnormalities", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We assessed the release ability of conditionally replicative adenovirus (CRAd) from MSC using crystal violet staining, TCID (50) assay, and quantitative PCR.", "output": {"entities": {"gene": [{"text": "MSC", "start": 84, "end": 87}], "disease": [{"text": "adenovirus", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Our data show that mutation analysis of the SLC26A4 gene is of high diagnostic yield among subjects with deafness and bilateral EVA in both China and the U. S.", "output": {"entities": {"gene": [{"text": "EVA", "start": 128, "end": 131}], "disease": [{"text": "deafness", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In the most severe and potentially life-threatening forms of exanthems (Stevens-Johnson syndrome/toxic epidermal necrolysis) cytotoxic CD8 + T cells with natural killer cell markers can be found in the blister fluid.", "output": {"entities": {"gene": [{"text": "CD8", "start": 135, "end": 138}], "disease": [{"text": "toxic epidermal necrolysis", "start": 97, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Presence of high-affinity AHR enhanced thymic atrophy and liver hypertrophy in the pups.", "output": {"entities": {"gene": [{"text": "AHR", "start": 26, "end": 29}], "disease": [{"text": "atrophy", "start": 46, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHR", "start": 26, "end": 29}, "tail": {"text": "atrophy", "start": 46, "end": 53}}]}}, "schema": []}
{"input": "More importantly, UTA2-1-specific CTL effectively lysed mHag (+) hematopoietic cells, including patient myeloma cells, without affecting non-hematopoietic cells.", "output": {"entities": {"gene": [{"text": "UTA2-1", "start": 18, "end": 24}], "disease": [{"text": "myeloma", "start": 104, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The HepG2 culture media containing elicited AFP was assessed for its ability to inhibit proliferation of T47D cells when applied to these human BC cells in culture, and to inhibit the estrogen-induced phosphorylation of the estrogen receptor in T47D cells.", "output": {"entities": {"gene": [{"text": "AFP", "start": 44, "end": 47}], "disease": [{"text": "BC", "start": 144, "end": 146}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "AFP", "start": 44, "end": 47}, "tail": {"text": "BC", "start": 144, "end": 146}}]}}, "schema": []}
{"input": "The interaction of platelets with leukocytes is mainly determined by the proteins encoded by six genes: P-Selectin (SELP encodes CD62P) on the thrombocyte binding to P-Selectin-Glycoprotein-Ligand-1 (PSGL1) on the leukocyte, intracellular-adhesion-molecule 2 (ICAM2) interacting with Integrin alpha M (ITGAM) and Glycoprotein 1b-alpha (GP1BA) binding to Integrin alpha L (ITGAL).", "output": {"entities": {"gene": [{"text": "ITGAL", "start": 372, "end": 377}], "disease": [{"text": "adhesion", "start": 239, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling. Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension. Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3).", "output": {"entities": {"gene": [{"text": "KCNK3", "start": 606, "end": 611}], "disease": [{"text": "sporadic", "start": 400, "end": 408}]}, "relations": {}}, "schema": []}
{"input": "Epidermal growth factor receptor (EGFR) signaling pathways contribute to the biological aggressiveness of PDAC, and we found that the motogenic effects of ΔNp63α were augmented in presence of EGF.", "output": {"entities": {"gene": [{"text": "EGF", "start": 34, "end": 37}], "disease": [{"text": "aggressiveness", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the NEMO gene in 122 IP patients and identified mutations in 83 (36 familiar and 47 sporadic cases).", "output": {"entities": {"gene": [{"text": "NEMO", "start": 16, "end": 20}], "disease": [{"text": "IP", "start": 33, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NEMO", "start": 16, "end": 20}, "tail": {"text": "IP", "start": 33, "end": 35}}]}}, "schema": []}
{"input": "We detected variable expressivity in relation to age of onset and a possible case of incomplete penetrance in 3 of 6 families (50%), with more than 1 affected child or more than 1 subject carrying 2 CYP1B1 mutant alleles.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 199, "end": 205}], "disease": [{"text": "variable expressivity", "start": 12, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Further functional analyses indicated that the interplay between RAD6 and ASF1A associates with tumorigenesis.", "output": {"entities": {"gene": [{"text": "ASF1A", "start": 74, "end": 79}], "disease": [{"text": "tumorigenesis", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We showed that AP-1 and CREB were specifically induced by AGEs; furthermore, TFD (transcription factor decoy) for AP-1 could attenuate the AGE-induced increases in TSP-1 levels and cellular hypertrophy.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 164, "end": 169}], "disease": [{"text": "hypertrophy", "start": 190, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis.", "output": {"entities": {"gene": [{"text": "T gene", "start": 115, "end": 121}], "disease": [{"text": "familial hypertrophic cardiomyopathy", "start": 14, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The discovery of RAB23 mutations in patients with Carpenter syndrome implicates HH signaling in cranial-suture biogenesis--an unexpected finding, given that craniosynostosis is not usually associated with mutations of other HH-pathway components--and provides a new molecular target for studies of obesity.", "output": {"entities": {"gene": [{"text": "RAB23", "start": 17, "end": 22}], "disease": [{"text": "Carpenter syndrome", "start": 50, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB23", "start": 17, "end": 22}, "tail": {"text": "Carpenter syndrome", "start": 50, "end": 68}}]}}, "schema": []}
{"input": "We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype.", "output": {"entities": {"gene": [{"text": "PIQ", "start": 57, "end": 60}], "disease": [{"text": "autism", "start": 72, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "There was weak evidence to implicate the following: IL13, IFNGR2, EDN1, and VDR in asthma; IL18, TBXA2R, IFNGR2, and VDR in atopy; TLR9, TBXA2R, VDR, NOD2, and STAT6 in airway hyperresponsiveness; TLR10, IFNGR2, STAT6, VDR, and NPSR1 in atopic asthma.", "output": {"entities": {"gene": [{"text": "IL13", "start": 52, "end": 56}], "disease": [{"text": "atopy", "start": 124, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Occludin is involved in adhesion, apoptosis, differentiation and Ca2 +-homeostasis of human keratinocytes: implications for tumorigenesis.", "output": {"entities": {"gene": [{"text": "Occludin", "start": 0, "end": 8}], "disease": [{"text": "adhesion", "start": 24, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "The EphB2 gene was recently implicated as a prostate cancer (PC) tumour suppressor gene, with somatic inactivating mutations occurring in approximately 10% of sporadic tumours.", "output": {"entities": {"gene": [{"text": "EphB2 gene", "start": 4, "end": 14}], "disease": [{"text": "sporadic", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "In the in situ hybridization cytochemistry experiment, HCN1 mRNA declined to 52. 00% and 46. 00% of the control values in the cornus ammon 1 (CA1) regions of hippocampus and neocortex separately after chronic cerebral ischemia.", "output": {"entities": {"gene": [{"text": "HCN1", "start": 55, "end": 59}], "disease": [{"text": "chronic cerebral ischemia", "start": 201, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "We also observed increased FKBP5 and decreased BAG1 mRNA expression in bipolar disorder (47. 5% [p & lt; 0. 05] and 14. 9% [p & lt; 0. 005]).", "output": {"entities": {"gene": [{"text": "BAG1", "start": 47, "end": 51}], "disease": [{"text": "bipolar disorder", "start": 71, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAG1", "start": 47, "end": 51}, "tail": {"text": "bipolar disorder", "start": 71, "end": 87}}]}}, "schema": []}
{"input": "Immunohistochemistry for glial fibriary acidic protein revealed that the formation of glial scar was also prevented by HGF gene treatment.", "output": {"entities": {"gene": [{"text": "HGF gene", "start": 119, "end": 127}], "disease": [{"text": "scar", "start": 92, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T & gt; A of the ALDH5A1 gene.", "output": {"entities": {"gene": [{"text": "ALDH5A1", "start": 149, "end": 156}], "disease": [{"text": "succinic semialdehyde dehydrogenase deficiency", "start": 36, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALDH5A1", "start": 149, "end": 156}, "tail": {"text": "succinic semialdehyde dehydrogenase deficiency", "start": 36, "end": 82}}]}}, "schema": []}
{"input": "To explore further LMNA' s possible role in normal aging, we genotyped 16 SNPs over a span of 75. 4 kb of the LMNA gene on a sample of long-lived individuals (LLI) (US Caucasians with age ≥ 95 years, N = 873) and genetically matched younger controls (N = 443).", "output": {"entities": {"gene": [{"text": "LMNA gene", "start": 110, "end": 119}], "disease": [{"text": "aging", "start": 51, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Although CIC-DUX4 resulting in a t (4; 19) translocation has been previously described in primitive sarcomas, this is the first report implicating the related DUX4 on 10q26 in oncogenesis.", "output": {"entities": {"gene": [{"text": "DUX4", "start": 13, "end": 17}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "DGAT activity per unit adipose weight was negatively correlated with adipocyte size (P < 0. 01) and positively correlated with direct FFA storage in omental (P < 0. 001) but not in abdominal subcutaneous fat.", "output": {"entities": {"gene": [{"text": "DGAT", "start": 0, "end": 4}], "disease": [{"text": "weight", "start": 31, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "CS-associated malignancies including cancers of the larynx, oral cavity, and pharynx, esophagus, pancreas, kidney, bladder, and lung; all are known to overexpress the nuclear factor-kappaB (NF-kappaB)-regulated gene products cyclin D1, cyclooxygenase (COX)-2, and matrix metalloprotease-9.", "output": {"entities": {"gene": [{"text": "COX", "start": 252, "end": 255}], "disease": [{"text": "larynx", "start": 52, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, a subset of genes whose expression is characteristic of Paneth cells, i. e. the defensins and matrilysin, were highly overexpressed in colon cancers.", "output": {"entities": {"gene": [{"text": "matrilysin", "start": 109, "end": 119}], "disease": [{"text": "colon cancers", "start": 150, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "matrilysin", "start": 109, "end": 119}, "tail": {"text": "colon cancers", "start": 150, "end": 163}}]}}, "schema": []}
{"input": "These findings suggest that the MSP/RON signaling pathway may be regulated by hepsin in tissue homeostasis and in disease pathologies, such as in cancer and immune disorders.", "output": {"entities": {"gene": [{"text": "RON", "start": 36, "end": 39}], "disease": [{"text": "immune disorders", "start": 157, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The inv (11) (p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 142, "end": 147}], "disease": [{"text": "chromosome translocation", "start": 22, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "DNA double-strand break analysis by γ-H2AX foci: a useful method for determining the overreactors to radiation-induced acute reactions among head-and-neck cancer patients.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 38, "end": 42}], "disease": [{"text": "neck cancer", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "We have investigated morphometrically unaffected neurons, intracellular neurofibrillary tangles (I-NFT) and extracellular neurofibrillary tangles (E-NFT) in eight subdivisions of the hippocampal cortex in two cases of early-onset familial Alzheimer' s disease (FAD) and six cases of early-onset sporadic Alzheimer' s disease (SAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 261, "end": 264}], "disease": [{"text": "sporadic", "start": 295, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "A polymorphism in the IL-6 gene (rs2069840) showed an interaction with smoking on CRP (p <. 001) and IL-6 (p =. 049) peripheral levels.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 22, "end": 26}], "disease": [{"text": "smoking", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "E-cadherin expression was found to be absent in normal ovarian tissue and was frequently expressed in benign epithelial ovarian cysts, with absence or low levels observed in late-stage ovarian cancers.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 0, "end": 10}], "disease": [{"text": "ovarian cysts", "start": 120, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Combination of proliferative and apoptotic properties prompts prostate cancer cells to be \" addicted \" to increased levels of phosphorylated BAD.", "output": {"entities": {"gene": [{"text": "BAD", "start": 141, "end": 144}], "disease": [{"text": "prostate cancer", "start": 62, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAD", "start": 141, "end": 144}, "tail": {"text": "prostate cancer", "start": 62, "end": 77}}]}}, "schema": []}
{"input": "Background diseases of the HCC patients include liver cirrhosis and chronic hepatitis of type B or C. RNA was prepared from both cancerous and surrounding non-cancerous tissues, and analyzed for the presence of MK mRNA by RT-PCR, PCR-Southern blot, and Northern blot analysis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 27, "end": 30}], "disease": [{"text": "chronic hepatitis", "start": 68, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.", "output": {"entities": {"gene": [{"text": "COX", "start": 208, "end": 211}], "disease": [{"text": "chronic diarrhoea", "start": 117, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Also, infarct size reduction by losartan was halted by a blockade of the AT2 receptor.", "output": {"entities": {"gene": [{"text": "AT2", "start": 73, "end": 76}], "disease": [{"text": "infarct", "start": 6, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic myelopathy of adulthood, presenting with slowly progressive spastic paraparesis and sphincter dysfunction with mild sensory involvement.", "output": {"entities": {"gene": [{"text": "TSP", "start": 63, "end": 66}], "disease": [{"text": "progressive spastic paraparesis", "start": 129, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "The IL4, IL13, and IL4 receptor α chain (IL4RA) genes are candidate genes for atopic diseases.", "output": {"entities": {"gene": [{"text": "IL13", "start": 9, "end": 13}], "disease": [{"text": "atopic", "start": 78, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "More than 85% of Ewing' s family tumors carry a specific chromosomal translocation that fuses the NH (2) terminus of the EWS gene to the COOH terminus of the FLI1 transcription factor.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 121, "end": 129}], "disease": [{"text": "chromosomal translocation", "start": 57, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This result suggests that smoking may induce inflammation measured as TNF-alpha level or WBC count and combinations of the GSTM1 and GSTP1 polymorphisms may modify the effect of smoking on serum TNF-alpha level.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 133, "end": 138}], "disease": [{"text": "inflammation", "start": 45, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.", "output": {"entities": {"gene": [{"text": "dimethylglycine dehydrogenase", "start": 11, "end": 40}], "disease": [{"text": "dimethylglycine dehydrogenase deficiency", "start": 85, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dimethylglycine dehydrogenase", "start": 11, "end": 40}, "tail": {"text": "dimethylglycine dehydrogenase deficiency", "start": 85, "end": 125}}]}}, "schema": []}
{"input": "Combined bisulphite restriction analysis for methylation of FANCF, FANCB and NBS1 was used to investigate 81 sporadic acute childhood leukaemias.", "output": {"entities": {"gene": [{"text": "FANCF", "start": 60, "end": 65}], "disease": [{"text": "sporadic", "start": 109, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Specific attention was directed toward the DR3 and DR4 alleles, as these had previously been associated with worse prognoses in autoimmune and viral hepatitis.", "output": {"entities": {"gene": [{"text": "DR4", "start": 51, "end": 54}], "disease": [{"text": "viral hepatitis", "start": 143, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "The changes in expression of seven transcripts, WDR35, FLF45244, DHCR24, TIGD7, TOPBP1, TSHZ1, and FAM8A1 were strongly correlated with the changes in body weight, fasting plasma glucose and glycosylated hemoglobin content.", "output": {"entities": {"gene": [{"text": "WDR35", "start": 48, "end": 53}], "disease": [{"text": "hemoglobin", "start": 204, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "Type 1 ryanodine receptor (RYR1) is a Ca2 + release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in some muscle diseases, including malignant hyperthermia (MH) and central core disease (CCD).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 38, "end": 41}], "disease": [{"text": "malignant hyperthermia", "start": 159, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "In order to further explore the epigenetic mechanism of tumor suppressor gene RASSF1A inactivation, 5-aza-2'-deoxycytidine (5-Aza-CdR), a DNA methyltransferase inhibitor, was used to treat the human biliary tract carcinoma cell line QBC-939 at the concentration of 5 micromol/L for 24 h in this study.", "output": {"entities": {"gene": [{"text": "RASSF1A", "start": 78, "end": 85}], "disease": [{"text": "biliary tract carcinoma", "start": 199, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Transcription suppression of SARI (suppressor of AP-1, regulated by IFN) by BCR-ABL in human leukemia cells.", "output": {"entities": {"gene": [{"text": "SARI", "start": 29, "end": 33}], "disease": [{"text": "leukemia", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "This functional test on human cultured myotubes indicates that the alteration of their intracellular Ca2 + homeostasis may identify the predisposition to malignant hyperthermia.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 101, "end": 104}], "disease": [{"text": "malignant hyperthermia", "start": 154, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "These results indicate that both PMA and ionomycin stimulate HSF1, but not HSF2, translocation and synthesis leading to the HSP-70 expression and that their effects are Ca (2 +)-dependent.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 61, "end": 65}], "disease": [{"text": "translocation", "start": 81, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The clone Huh7. 5 of human hepatoma Huh7 cells contains a mutation in RIG-I that is believed to be responsible for the improved replication of HCV in these cells relative to the parental strain.", "output": {"entities": {"gene": [{"text": "RIG-I", "start": 70, "end": 75}], "disease": [{"text": "hepatoma", "start": 27, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "We analyze the modification of retinal fibers layer using the funduscopy and the optical coherence tomography (OCT) in two French patients having spinocerebellar ataxia associated with a spastic paraparesia with genetically confirmed ARSACS.", "output": {"entities": {"gene": [{"text": "OCT", "start": 111, "end": 114}], "disease": [{"text": "spinocerebellar ataxia", "start": 146, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "PTB can be used as a predictive marker of CPT-11-induced severe neutropenia and FN.", "output": {"entities": {"gene": [{"text": "PTB", "start": 0, "end": 3}], "disease": [{"text": "neutropenia", "start": 64, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "These results support the evaluation of this form of IL-2 gene therapy in additional patients with glioblastoma.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 53, "end": 57}], "disease": [{"text": "glioblastoma", "start": 99, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-2", "start": 53, "end": 57}, "tail": {"text": "glioblastoma", "start": 99, "end": 111}}]}}, "schema": []}
{"input": "Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.", "output": {"entities": {"gene": [{"text": "Slitrk2", "start": 30, "end": 37}], "disease": [{"text": "FASD", "start": 95, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Slitrk2", "start": 30, "end": 37}, "tail": {"text": "FASD", "start": 95, "end": 99}}]}}, "schema": []}
{"input": "Lung restricted T cell receptor AV2S3 + CD4 + T cell expansions in sarcoidosis patients with a shared HLA-DRbeta chain conformation.", "output": {"entities": {"gene": [{"text": "CD4", "start": 40, "end": 43}], "disease": [{"text": "sarcoidosis", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We investigated five cases of cardiac myxoma and one case of cardiac undifferentiated sarcoma by light and electron microscopy, in situ hybridization, immunohistochemical staining, and reverse transcriptase-polymerase chain reaction for cardiomyocyte-specific transcription factors, Nkx2. 5/Csx, GATA-4, MEF2, and eHAND.", "output": {"entities": {"gene": [{"text": "GATA", "start": 296, "end": 300}], "disease": [{"text": "undifferentiated sarcoma", "start": 69, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our results suggested that the CYP26B1 splice variant is associated with the occurrence of BQ-related oral cancer.", "output": {"entities": {"gene": [{"text": "CYP26B1", "start": 31, "end": 38}], "disease": [{"text": "oral cancer", "start": 102, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Folate treatment resulted in a significant decrease of tHcy and fibrinogen, while plasminogen and antithrombin III significantly increased.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 98, "end": 114}], "disease": [{"text": "fibrinogen", "start": 64, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "In the course of our search for the gene responsible for X-linked cone-rod dystrophy (COD1), we constructed a physical map and contig (encompassing the region between DXS556 and DXS228), and identified sequences showing homologies to the expressed sequence tags (ESTs) that matched CRSP2 (EXLM1) transcript.", "output": {"entities": {"gene": [{"text": "EXLM1", "start": 289, "end": 294}], "disease": [{"text": "cone-rod dystrophy", "start": 66, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Excessive production of interleukin (IL)-4, IL-13 and interferon (IFN)-gamma is thought to be important in the development of allergic disease and atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 44, "end": 49}], "disease": [{"text": "atopy", "start": 147, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In addition, over-expression of the well known squamous cell carcinoma-associated miR-205 was linked to down-regulation of the DOK4 gene.", "output": {"entities": {"gene": [{"text": "miR-205", "start": 82, "end": 89}], "disease": [{"text": "squamous cell carcinoma", "start": 47, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-205", "start": 82, "end": 89}, "tail": {"text": "squamous cell carcinoma", "start": 47, "end": 70}}]}}, "schema": []}
{"input": "The Pro12Ala polymorphism of the peroxisome proliferator-activated receptor (PPAR) γ2 gene seems to influence LPL functioning, but its role in obesity and insulin resistance status, which usually coexist in the clinical setting, has not been explored.", "output": {"entities": {"gene": [{"text": "LPL", "start": 110, "end": 113}], "disease": [{"text": "insulin resistance", "start": 155, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "The overexpression of plectin might affect the organization of cytoskeleton, which might further cause tumorigenesis and morphological change of colorectal epithelial cells.", "output": {"entities": {"gene": [{"text": "plectin", "start": 22, "end": 29}], "disease": [{"text": "tumorigenesis", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "These have shown that inhabitants of high-risk areas for stomach and esophageal cancer, patients with urinary tract infections (at risk for bladder cancer) and Thai subjects infected with liver fluke (at risk for cholangiocarcinoma) had significantly higher exposure to endogenous NOC.", "output": {"entities": {"gene": [{"text": "NOC", "start": 281, "end": 284}], "disease": [{"text": "esophageal cancer", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we investigated the mRNA expression levels of HIF-1 (& #945; and & #946;) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).", "output": {"entities": {"gene": [{"text": "HIF-1", "start": 68, "end": 73}], "disease": [{"text": "bipolar disorder", "start": 244, "end": 260}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HIF-1", "start": 68, "end": 73}, "tail": {"text": "bipolar disorder", "start": 244, "end": 260}}]}}, "schema": []}
{"input": "Because alcohol dehydrogenase (ADH1B) His47Arg and mitochondrial aldehyde dehydrogenase (ALDH2) Glu487Lys single nucleotide polymorphisms (SNPs), which affect alcohol metabolism, have been reported to exert significant impacts on alcohol consumption and on the risk for alcoholism in East Asia populations, we explored associations of the two functional SNPs with suicide using a case-control study of 283 completed suicides and 319 control subjects in the Japanese population.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 89, "end": 94}], "disease": [{"text": "suicide", "start": 364, "end": 371}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have shown that induction of autoimmune diabetes by adult thymectomy and split dose irradiation of PVG. RT1 (u) rats can be prevented by their reconstitution with peripheral CD4 (+) CD45RC-TCR-alpha/beta + RT6 (+) cells and CD4 (+) CD8 (-) thymocytes from normal syngeneic donors.", "output": {"entities": {"gene": [{"text": "CD8", "start": 249, "end": 252}], "disease": [{"text": "autoimmune diabetes", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The MDR analysis of multiple SNPs revealed that P-selectin-2441A/G and CD14-159C/T had combined effects on macroscopic hematuria, whereas TGF-β1 509T/C, P-selectin-2441A/G and MCP-1 2518A/G had combined effects on the formation of crescents in IgAN patients.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 176, "end": 181}], "disease": [{"text": "macroscopic hematuria", "start": 107, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1.", "output": {"entities": {"gene": [{"text": "TNNT1", "start": 110, "end": 115}], "disease": [{"text": "Amish nemaline myopathy", "start": 17, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TNNT1", "start": 110, "end": 115}, "tail": {"text": "Amish nemaline myopathy", "start": 17, "end": 40}}]}}, "schema": []}
{"input": "A total of 195 samples from HIV-1 patients in a wide range of clinical conditions were analyzed with a 100% success rate, even in patients with suppressed plasma viremia, regardless of CD4 + or therapy.", "output": {"entities": {"gene": [{"text": "CD4", "start": 185, "end": 188}], "disease": [{"text": "viremia", "start": 162, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/> 1. 5) and were used to generate the inflammatory risk score (IRS).", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 83, "end": 88}], "disease": [{"text": "regression", "start": 202, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "Betel quid (BQ) chewing is an oral habit that increases the risk of oral cancer and oral submucous fibrosis (OSF), a precancerous condition showing epithelial atrophy and tissue fibrosis.", "output": {"entities": {"gene": [{"text": "OSF", "start": 109, "end": 112}], "disease": [{"text": "fibrosis", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the severity of atherosclerosis, we measured the coronary artery calcification (CAC) score, intima-media thickness (IMT) of the common carotid artery, and the ankle-brachial pressure index (ABPI).", "output": {"entities": {"gene": [{"text": "CAC", "start": 92, "end": 95}], "disease": [{"text": "coronary artery calcification", "start": 61, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "We show for the first time that CaV1. 2 knockdown in zebrafish results in classic primary cilia defects including renal cyst formation, hydrocephalus, and left-right asymmetry defects.", "output": {"entities": {"gene": [{"text": "CaV1. 2", "start": 32, "end": 39}], "disease": [{"text": "hydrocephalus", "start": 136, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Up-regulation of EGF receptor and its ligands, AREG, EREG, and HB-EGF in oral lichen planus.", "output": {"entities": {"gene": [{"text": "EREG", "start": 53, "end": 57}], "disease": [{"text": "oral lichen planus", "start": 73, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "For this purpose, we performed a retrospective case-control study to investigate the influence of the procoagulant factor VIII (VIII: C) and the antigen of vWF (vWF: Ag) on the normalized APC-SR (n-APC-SR) and on the risk for VTE, in two selected groups of 30 symptomatic (Group I) and 32 asymptomatic (Group II) related heterozygotes for the factor V Leiden mutation.", "output": {"entities": {"gene": [{"text": "VIII", "start": 122, "end": 126}], "disease": [{"text": "asymptomatic", "start": 289, "end": 301}]}, "relations": {}}, "schema": []}
{"input": "One form of hereditary long QT (LQT3) has been linked to a mutation in the gene encoding the human heart voltage-gated sodium-channel alpha-subunit (SCN5A on chromosome 3p21).", "output": {"entities": {"gene": [{"text": "SCN5A", "start": 149, "end": 154}], "disease": [{"text": "LQT3", "start": 32, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN5A", "start": 149, "end": 154}, "tail": {"text": "LQT3", "start": 32, "end": 36}}]}}, "schema": []}
{"input": "Slit2/Robo1 signaling promotes intestinal tumorigenesis through Src-mediated activation of the Wnt/β-catenin pathway.", "output": {"entities": {"gene": [{"text": "Robo1", "start": 6, "end": 11}], "disease": [{"text": "tumorigenesis", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Indomethacin produced multiple lesions in glandular mucosa, evidenced by marked increase in gastric ulcer index (GUI) accompanied by significant increases in gastric juice acidity, tissue myeloperoxidase (MPO) activity, serum NO and tissue conjugated diene (CD), and marked decreases in tissue NO and glutathione (GSH) as well as glutathione reductase (GR) and superoxide dismutase (SOD) activities, while gastric juice mucin and tissue glutathione peroxidase (GPx) were not affected.", "output": {"entities": {"gene": [{"text": "MPO", "start": 205, "end": 208}], "disease": [{"text": "gastric ulcer", "start": 92, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 24, "end": 28}], "disease": [{"text": "best vitelliform macular dystrophy", "start": 61, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 24, "end": 28}, "tail": {"text": "best vitelliform macular dystrophy", "start": 61, "end": 95}}]}}, "schema": []}
{"input": "The present study suggests that an IL-1 receptor antagonist effectively attenuates or blocks long-lasting hyperalgesia and microglia activation produced by LPS exposure in the neonatal period of rats.", "output": {"entities": {"gene": [{"text": "IL-1", "start": 35, "end": 39}], "disease": [{"text": "hyperalgesia", "start": 106, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-1", "start": 35, "end": 39}, "tail": {"text": "hyperalgesia", "start": 106, "end": 118}}]}}, "schema": []}
{"input": "Its prevalence was significantly higher in patients with progressive forms of the disease (HCC and liver cirrhosis) than in patients with less severe forms of the disease (chronic hepatitis and carrier) [31. 8% (56/176 patients) vs. 17. 2% (17/99 patients); p = 0. 010].", "output": {"entities": {"gene": [{"text": "HCC", "start": 91, "end": 94}], "disease": [{"text": "chronic hepatitis", "start": 172, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Consistent with this, many APS1/APECED patients harbored extremely high-affinity, neutralizing autoantibodies, particularly against specific cytokines.", "output": {"entities": {"gene": [{"text": "APS1", "start": 27, "end": 31}], "disease": [{"text": "APECED", "start": 32, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APS1", "start": 27, "end": 31}, "tail": {"text": "APECED", "start": 32, "end": 38}}]}}, "schema": []}
{"input": "Uroguanylin concentrations are increased in patients with chronic renal failure, nephrotic syndrome, or those on dialysis.", "output": {"entities": {"gene": [{"text": "Uroguanylin", "start": 0, "end": 11}], "disease": [{"text": "chronic renal failure", "start": 58, "end": 79}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Uroguanylin", "start": 0, "end": 11}, "tail": {"text": "chronic renal failure", "start": 58, "end": 79}}]}}, "schema": []}
{"input": "To evaluate diagnostic differences and associations between pleural tuberculosis (PLTB), and pulmonary tuberculosis alone (PTB), as well as, pleural and pulmonary co-infection (PLPTB) and PTB.", "output": {"entities": {"gene": [{"text": "PTB", "start": 123, "end": 126}], "disease": [{"text": "co-infection", "start": 163, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Arterial media calcification (AMC) is highly prevalent and is a major cause of morbidity, mortality, stroke and amputation in patients with diabetes mellitus (DM).", "output": {"entities": {"gene": [{"text": "AMC", "start": 30, "end": 33}], "disease": [{"text": "diabetes mellitus", "start": 140, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Whereas in obese WAT apoptotic macrophages were located around necrotic adipocytes, we demonstrated that CCL5, but not CCL2, protected macrophages from free cholesterol-induced apoptosis via activation of the Akt/Erk pathways.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 119, "end": 123}], "disease": [{"text": "necrotic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows.", "output": {"entities": {"gene": [{"text": "Keratosis Follicularis Spinulosa Decalvans", "start": 0, "end": 42}], "disease": [{"text": "KFSD", "start": 44, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Keratosis Follicularis Spinulosa Decalvans", "start": 0, "end": 42}, "tail": {"text": "KFSD", "start": 44, "end": 48}}]}}, "schema": []}
{"input": "The objective of this study was to determine the prevalence of BRCA1 and BRCA2 gene mutations in unselected ovarian cancer patients, and to analyse clinical and pathological features of ovarian cancer unclassified variant mutation carriers in comparison with BRCA1 pathogenic mutation carriers and sporadic cases.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 73, "end": 83}], "disease": [{"text": "sporadic", "start": 298, "end": 306}]}, "relations": {}}, "schema": []}
{"input": "Maternal HLA-A * 2301 was associated with increased transmission risk before and after adjusting for maternal viral load (unadjusted: odds ratio [OR], 3. 21; 95% confidence interval [CI], 1. 42-7. 27; P =. 005; Pcorr = 0. 04; adjusted: OR, 3. 07; 95% CI, 1. 26-7. 51; P =. 01; Pcorr is not significant).", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 9, "end": 14}], "disease": [{"text": "viral load", "start": 110, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "To clarify the mechanism underlying this deficiency in UGT1A1 activity in patients with Gilbert' s syndrome.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 55, "end": 61}], "disease": [{"text": "Gilbert' s syndrome", "start": 88, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UGT1A1", "start": 55, "end": 61}, "tail": {"text": "Gilbert' s syndrome", "start": 88, "end": 107}}]}}, "schema": []}
{"input": "Downregulation of miR-145-5p in cancer cells & #160; and their & #160; derived exosomes may contribute to & #160; the & #160; development of ovarian cancer by targeting CT.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 18, "end": 25}], "disease": [{"text": "ovarian cancer", "start": 141, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-145", "start": 18, "end": 25}, "tail": {"text": "ovarian cancer", "start": 141, "end": 155}}]}}, "schema": []}
{"input": "These data suggest that genetic variation at the EphB2 locus may increase risk of sporadic PC among AAM.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 49, "end": 54}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Here, we present a novel therapeutic approach to circumvent clinical resistance to bolus 5-FU, that is, treatment of bolus 5-FU-resistant colorectal cancer cells with low-dose 5-azadeoxycytidine (DAC), an inhibitor of DNA hypermethylation, restored sensitivity to 5-FU as well as 5-fluorouridine.", "output": {"entities": {"gene": [{"text": "DAC", "start": 196, "end": 199}], "disease": [{"text": "clinical resistance", "start": 60, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "SEMA3E mutation in a patient with CHARGE syndrome.", "output": {"entities": {"gene": [{"text": "SEMA3E", "start": 0, "end": 6}], "disease": [{"text": "CHARGE syndrome", "start": 34, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SEMA3E", "start": 0, "end": 6}, "tail": {"text": "CHARGE syndrome", "start": 34, "end": 49}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the relationship between genetic variants of the adrenergic beta3 receptor (ADRB3) and the G-protein beta3 subunit (GNB3) and clozapine-induced body weight change (BWC).", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 117, "end": 122}], "disease": [{"text": "body weight change", "start": 185, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Of these, 140 SNPs indexed differences in HDL-and LDL-cholesterol, triglycerides, C-reactive protein, fibrinogen, factor VII, apolipoproteins AI and B, lipoprotein-associated phospholipase A2, homocysteine or folate, some with large effect sizes and highly significant P-values (e. g.", "output": {"entities": {"gene": [{"text": "lipoprotein-associated phospholipase A2", "start": 152, "end": 191}], "disease": [{"text": "fibrinogen", "start": 102, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Mice submitted to unilateral ureteral ligation (UUO) demonstrated an increase in macrophage infiltration with collagen deposition after 7 d. Conversely, TLR2, TLR4 and MyD88 knockout (KO) mice had an improved renal function together with diminished T (H) 2 cytokine production and decreased fibrosis formation.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 168, "end": 173}], "disease": [{"text": "fibrosis", "start": 291, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 62, "end": 67}], "disease": [{"text": "breast cancer", "start": 131, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 62, "end": 67}, "tail": {"text": "breast cancer", "start": 131, "end": 144}}]}}, "schema": []}
{"input": "The MLL gene from human chromosome 11q23 is involved in > 30 different chromosomal translocations resulting in a plethora of different MLL fusion proteins.", "output": {"entities": {"gene": [{"text": "MLL gene", "start": 4, "end": 12}], "disease": [{"text": "plethora", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T--& gt; G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin.", "output": {"entities": {"gene": [{"text": "factor X", "start": 92, "end": 100}], "disease": [{"text": "factor X deficiency", "start": 147, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor X", "start": 92, "end": 100}, "tail": {"text": "factor X deficiency", "start": 147, "end": 166}}]}}, "schema": []}
{"input": "Thus, determinants of demyelination map to the S gene of MHV.", "output": {"entities": {"gene": [{"text": "S gene", "start": 47, "end": 53}], "disease": [{"text": "demyelination", "start": 22, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "in the early stage of BC diagnosis (ductal carcinoma in situ, TNM I and II) than the CA153 and CEA markers (8. 13 and 7. 32%, respectively).", "output": {"entities": {"gene": [{"text": "CEA", "start": 95, "end": 98}], "disease": [{"text": "ductal carcinoma in situ", "start": 36, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to explore the genetic polymorphisms and serum protein levels of MBL in Chinese pediatric patients with common infectious diseases, including recurrent respiratory infection (RRI), acute respiratory infection (ARI), active cytomegalovirus (CMV) infection, localized abscess, and otitis media.", "output": {"entities": {"gene": [{"text": "ARI", "start": 242, "end": 245}], "disease": [{"text": "cytomegalovirus", "start": 255, "end": 270}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 86, "end": 90}], "disease": [{"text": "chromosome deletion", "start": 56, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "The decreased cyst size in the Rictor silenced cells was reversed by introduction of a constitutively active Akt1.", "output": {"entities": {"gene": [{"text": "Akt1", "start": 109, "end": 113}], "disease": [{"text": "cyst", "start": 14, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "The primary tumors of 55 patients with a sporadic Dukes' C colon cancer, all treated with adjuvant chemotherapy were analyzed for the presence of KRAS and TP53 mutations.", "output": {"entities": {"gene": [{"text": "TP53", "start": 155, "end": 159}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of DN-Lats2 significantly enhanced cardiac hypertrophy and inhibited cardiac myocyte apoptosis induced by transverse aortic constriction.", "output": {"entities": {"gene": [{"text": "Lats2", "start": 21, "end": 26}], "disease": [{"text": "cardiac hypertrophy", "start": 50, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These studies showed that 6 h after hypoxia-ischemia, galectin 3 and filamin C levels increased to a lesser extent in the bis (-/-) hippocampi compared with the bis (+/+) hippocampi.", "output": {"entities": {"gene": [{"text": "filamin C", "start": 69, "end": 78}], "disease": [{"text": "hypoxia", "start": 36, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that CNR1 gene polymorphism is associated with central obesity in this Brazilian population of European ancestry.", "output": {"entities": {"gene": [{"text": "CNR1 gene", "start": 26, "end": 35}], "disease": [{"text": "central obesity", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "This study aims to determine the frequency, severity and distribution of PIN1 immunoreactivity and its relationship to NFTs and other neuropathological markers of neurodegeneration such as amyloid-β (Aβ) plaques and transcription-responsive DNA-binding protein of M (r) 43 kDa (TDP-43).", "output": {"entities": {"gene": [{"text": "PIN1", "start": 73, "end": 77}], "disease": [{"text": "amyloid", "start": 189, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "The expression of DVL1 and DVL3 proteins was significantly more pronounced in progressive than in non-progressive disease (p < 0. 01), whereas the level of DVL2 was significantly higher in non-progressive as compared to progressive disease (p < 0. 001).", "output": {"entities": {"gene": [{"text": "DVL3", "start": 27, "end": 31}], "disease": [{"text": "non-progressive", "start": 98, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We investigated ALK protein expression, phosphorylation, and genetic aberrations using fluorescence in situ hybridization (FISH) in 81 soft tissue tumor samples: inflammatory myofibroblastic tumor, n = 1; alveolar soft part sarcoma, n = 2; leiomyosarcoma, n = 10; well-differentiated liposarcoma, n = 7; pleomorphic liposarcoma, n = 2; extraskeletal osteosarcoma, n = 1; epithelioid sarcoma, n = 1; synovial sarcoma, n = 4; malignant peripheral nerve sheath tumor, n = 4; undifferentiated pleomorphic sarcoma, n = 19; rhabdomyosarcoma, n = 6; myxofibrosarcoma, n = 8; myxoid liposarcoma, n = 11; fibrosarcoma, n = 4; and desmoid-type fibromatosis, n = 1.", "output": {"entities": {"gene": [{"text": "FISH", "start": 123, "end": 127}], "disease": [{"text": "fibromatosis", "start": 634, "end": 646}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the PI3K/PTEN/TSC2 pathway contribute to mammalian target of rapamycin activity and increased translation under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 54, "end": 83}], "disease": [{"text": "hypoxic", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Plasma resistin, associated with single nucleotide polymorphism-420, is correlated with insulin resistance, lower HDL cholesterol, and high-sensitivity C-reactive protein in the Japanese general population.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 152, "end": 170}], "disease": [{"text": "insulin resistance", "start": 88, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "OATP1B3, OATP2A1, OATP3A1 and OATP4A1 are up-regulated in pancreatic adenocarcinoma and could potentially be used to target anticancer drugs to pancreatic cancer.", "output": {"entities": {"gene": [{"text": "OATP3A1", "start": 18, "end": 25}], "disease": [{"text": "pancreatic adenocarcinoma", "start": 58, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We observed that peripheral nerve injury reduced spinal MKP-1/3 expression and activity and that intrathecal JWH015 reduced established L5 nerve injury-induced allodynia, enhanced spinal MKP-1/3 expression and activity, and reduced the phosphorylated form of p38 and ERK-1/2.", "output": {"entities": {"gene": [{"text": "MKP-1", "start": 56, "end": 61}], "disease": [{"text": "allodynia", "start": 160, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The levels of IL-6, IL-2, pSTAT3, pSTAT5, SOCS3, RORc, Foxp3, IL-17A, and TGF-β1 were measured in patients with atopic NP, patients with nonatopic NP, and controls.", "output": {"entities": {"gene": [{"text": "SOCS3", "start": 42, "end": 47}], "disease": [{"text": "atopic", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "We conclude that HSP60 redistributed from mitochondrion to cytosol in the RVLM confers neuroprotection against fatal cardiovascular depression during endotoxaemia via reduced activation of the cytochrome c-caspase-3 cascade of apoptotic signalling through enhanced interactions with mitochondrial or cytosolic Bax or Bcl-2.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 193, "end": 205}], "disease": [{"text": "depression", "start": 132, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Oxidized low-density lipoprotein (oxLDL) accumulates early in atherosclerosis and promotes endothelial nuclear factor κB (NF-κB) activation, proinflammatory gene expression and monocyte adhesion.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 122, "end": 127}], "disease": [{"text": "adhesion", "start": 186, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "We assessed the association between changes in Ki-67 from diagnostic biopsy to surgical specimen and the following factors: age, body mass index, tumor prognostic and predictive factors, including immunohistochemical molecular subtype, number and size of biopsy specimens, time from biopsy to surgery, circulating insulin-like growth factor-I, sex hormone-binding globulin and hsCRP.", "output": {"entities": {"gene": [{"text": "sex hormone-binding globulin", "start": 344, "end": 372}], "disease": [{"text": "body mass index", "start": 129, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "The second mode of MAF transcription occurred in myelomas with multiple myeloma SET domain (MMSET) translocation.", "output": {"entities": {"gene": [{"text": "MAF", "start": 19, "end": 22}], "disease": [{"text": "translocation", "start": 99, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Alzheimer' s disease (AD) is characterized by amyloid beta (A beta) accumulation in the brain and is classified as familial early-onset (FAD) or sporadic late-onset (SAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 137, "end": 140}], "disease": [{"text": "sporadic", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Initial discovery GWAS detected SNPs within or near genes encoding the ABO blood group specifying transferases A/B (ABO), Fucosyltransferase-2 (FUT2), and Chymotrypsinogen-B2 (CTRB2), to be significantly associated with lipase activity levels in asymptomatic subjects.", "output": {"entities": {"gene": [{"text": "ABO", "start": 71, "end": 74}], "disease": [{"text": "asymptomatic", "start": 246, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "As an in vivo model for studying human MHC (HLA) class I-restricted CTL responses to viral infection, we established a series of HLA Tg mice expressing HLA-A2,-B7 or-B27 human/mouse hybrid genes on a background deficient for H2 class I (Tg HLA (hyb)/H2 class I DKO).]", "output": {"entities": {"gene": [{"text": "B27", "start": 166, "end": 169}], "disease": [{"text": "viral infection", "start": 85, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic studies point to potential risk loci of psychotic depression shared with schizoaffective disorder (1q42, 22q11, 19p13), depression, bipolar disorder, and schizophrenia (6p, 8p22, 10p13-12, 10p14, 13q13-14, 13q32, 18p, 22q11-13) and several vulnerability genes possibly contributing to an increased risk of psychotic symptoms in depression (eg, BDNF, DBH, DTNBP1, DRD2, DRD4, GSK-3beta, MAO-A).", "output": {"entities": {"gene": [{"text": "MAO-A", "start": 404, "end": 409}], "disease": [{"text": "psychotic depression", "start": 58, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAO-A", "start": 404, "end": 409}, "tail": {"text": "psychotic depression", "start": 58, "end": 78}}]}}, "schema": []}
{"input": "To further investigate the frequency and genotype-phenotype correlations of mutations in the POLG gene, we used single-stranded conformational polymorphism analysis and direct sequencing to screen 30 patients with familial or sporadic PEO and multiple mitochondrial DNA deletions in muscle but without mutations in ANT1 and C10orf2.", "output": {"entities": {"gene": [{"text": "ANT1", "start": 315, "end": 319}], "disease": [{"text": "sporadic", "start": 226, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Spp1 is an integrin-binding phosphoglycoprotein upregulated in carcinomas, and Mmps regulate tumour invasion.", "output": {"entities": {"gene": [{"text": "Spp1", "start": 0, "end": 4}], "disease": [{"text": "carcinomas", "start": 63, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma.", "output": {"entities": {"gene": [{"text": "SEPT14", "start": 109, "end": 115}], "disease": [{"text": "glioblastoma", "start": 172, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEPT14", "start": 109, "end": 115}, "tail": {"text": "glioblastoma", "start": 172, "end": 184}}]}}, "schema": []}
{"input": "Down-regulation of XAF1 in association with hypermethylation was detected in 3 of 4 human gastric cancer cell lines and 6 of 8 colon cancer cell lines.", "output": {"entities": {"gene": [{"text": "XAF1", "start": 19, "end": 23}], "disease": [{"text": "colon cancer", "start": 127, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "XAF1", "start": 19, "end": 23}, "tail": {"text": "colon cancer", "start": 127, "end": 139}}]}}, "schema": []}
{"input": "Linkage of bipolar disorder and recurrent depression to DRD1 and DRD2 was tested using a series of genetic models with varying penetrance levels.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 65, "end": 69}], "disease": [{"text": "recurrent depression", "start": 32, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DRD2", "start": 65, "end": 69}, "tail": {"text": "recurrent depression", "start": 32, "end": 52}}]}}, "schema": []}
{"input": "MAD1 was detected in the supranuclear portion of normal epithelial, intestinal metaplasia, and adenoma cells, but its expression was not restricted to any specific area in carcinoma cells.", "output": {"entities": {"gene": [{"text": "MAD1", "start": 0, "end": 4}], "disease": [{"text": "adenoma", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Recently, mutations in the human MMR genes MSH2, MLH1, PMS1 and PMS2 have been implicated in a common form of hereditary colon cancer and in sporadic tumors of various tissues.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 43, "end": 47}], "disease": [{"text": "sporadic", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The cellular composition of clonal fibroids are heterogeneous, with phenotypically dissimilar cells that include smooth muscle cells (SMC), vascular SMC (VSMC) and fibroblasts.", "output": {"entities": {"gene": [{"text": "SMC", "start": 134, "end": 137}], "disease": [{"text": "fibroids", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "P115 promotes proliferation of gastric cancer cells through an interaction with MIF.", "output": {"entities": {"gene": [{"text": "MIF", "start": 80, "end": 83}], "disease": [{"text": "gastric cancer", "start": 31, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "GSN overexpression was significantly associated with more aggressive behavior and more cancer deaths and supported our hypothesis that high GSN expression confers chemoresistance in cancer cells by altering the GSN-FLIP-Itch interaction.", "output": {"entities": {"gene": [{"text": "FLIP", "start": 215, "end": 219}], "disease": [{"text": "aggressive behavior", "start": 58, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Nox2 activation requires membrane translocation of the p47 (phox) subunit and is linked to heart failure.", "output": {"entities": {"gene": [{"text": "Nox2", "start": 0, "end": 4}], "disease": [{"text": "translocation", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "It is phosphorylated by kinases such as ataxia telangiectasia mutated (ATM) and ATM-Rad3-related (ATR) in the PI3K pathway.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 110, "end": 114}], "disease": [{"text": "telangiectasia", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor receptor 3", "start": 113, "end": 148}], "disease": [{"text": "hypochondroplasia", "start": 52, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibroblast growth factor receptor 3", "start": 113, "end": 148}, "tail": {"text": "hypochondroplasia", "start": 52, "end": 69}}]}}, "schema": []}
{"input": "Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.", "output": {"entities": {"gene": [{"text": "RLBP1", "start": 94, "end": 99}], "disease": [{"text": "Fundus albipunctatus", "start": 0, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RLBP1", "start": 94, "end": 99}, "tail": {"text": "Fundus albipunctatus", "start": 0, "end": 20}}]}}, "schema": []}
{"input": "Thus, the present report describes a DDD subphenotype in PSENEN mutation carriers that is associated with increased susceptibility to AI.", "output": {"entities": {"gene": [{"text": "PSENEN", "start": 57, "end": 63}], "disease": [{"text": "DDD", "start": 37, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PSENEN", "start": 57, "end": 63}, "tail": {"text": "DDD", "start": 37, "end": 40}}]}}, "schema": []}
{"input": "Aberrant RAD9 expression has been linked to breast, lung, thyroid, skin and prostate tumorigenesis, and a cause-effect relationship has been demonstrated for the latter two.", "output": {"entities": {"gene": [{"text": "RAD9", "start": 9, "end": 13}], "disease": [{"text": "tumorigenesis", "start": 85, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "SRA880 did not affect seizure severity and did not reverse the anticonvulsive action of SRIF-14 (1 microM) against pilocarpine-induced seizures, suggesting that hippocampal sst (1) receptors are not involved in the anticonvulsive effects of SRIF-14.", "output": {"entities": {"gene": [{"text": "SRIF-14", "start": 88, "end": 95}], "disease": [{"text": "seizure", "start": 22, "end": 29}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SRIF-14", "start": 88, "end": 95}, "tail": {"text": "seizure", "start": 22, "end": 29}}]}}, "schema": []}
{"input": "To analyze the expression of HMOX1 and miR-122 in liver biopsy samples obtained from HCV mono-and HIV/HCV co-infected patients in relation to selected clinical parameters, histological examination and IL-28B polymorphism as well as to determine whether HMOX1 expression is dependent on Bach-1.", "output": {"entities": {"gene": [{"text": "Bach-1", "start": 286, "end": 292}], "disease": [{"text": "mono", "start": 89, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In CCR2 +/+ mice, the number and the size of granulomas gradually increased until they reached peak values at 10 days after the injection.", "output": {"entities": {"gene": [{"text": "CCR2", "start": 3, "end": 7}], "disease": [{"text": "granulomas", "start": 45, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Because GPC3 binds with high affinity to Wnts, and its growth-promoting activity requires attachment to the cell membrane, we have hypothesized that a mutated GPC3 lacking the GPI anchoring domain (sGPC3) will block Wnt signaling and inhibit the growth of Wnt-dependent tumors.", "output": {"entities": {"gene": [{"text": "GPI", "start": 176, "end": 179}], "disease": [{"text": "tumors", "start": 270, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "In mice with liver fibrosis, adiponectin had similar effects and limited focal adhesion kinase phosphorylation.", "output": {"entities": {"gene": [{"text": "focal adhesion kinase", "start": 73, "end": 94}], "disease": [{"text": "liver fibrosis", "start": 13, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "These results illuminate potential underlying mechanisms of the involvement of the GATA4 gene in the etiology of alcohol dependence via its influence on ANP and amygdala processing.", "output": {"entities": {"gene": [{"text": "ANP", "start": 153, "end": 156}], "disease": [{"text": "alcohol dependence", "start": 113, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Levels of DNAJB6 were knocked down in ESCC cell lines (KYSE450 and T. Tn), immortalized normal esophageal epithelial cell lines (NE3 and NE083), and other cells with short hairpin RNAs, or by genome engineering.", "output": {"entities": {"gene": [{"text": "DNAJB6", "start": 10, "end": 16}], "disease": [{"text": "esophageal", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period.", "output": {"entities": {"gene": [{"text": "SH3TC2", "start": 44, "end": 50}], "disease": [{"text": "foot deformities", "start": 108, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure.", "output": {"entities": {"gene": [{"text": "FJHN", "start": 95, "end": 99}], "disease": [{"text": "familial juvenile hyperuricemic nephropathy", "start": 45, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FJHN", "start": 95, "end": 99}, "tail": {"text": "familial juvenile hyperuricemic nephropathy", "start": 45, "end": 88}}]}}, "schema": []}
{"input": "CDC25B protein expression scores in subjects with esophageal biopsies diagnosed as normal (n = 35), dysplastic (n = 23), or ESCC (n = 32) increased significantly with morphologic progression.", "output": {"entities": {"gene": [{"text": "CDC25B", "start": 0, "end": 6}], "disease": [{"text": "esophageal", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression of phosphorylation-insensitive T200A or T280A mutant Nanog reduced cell proliferation, colony formation, invasion, migration and the CIC population in head and neck squamous cell carcinoma (HNSCC) cells.", "output": {"entities": {"gene": [{"text": "CIC", "start": 152, "end": 155}], "disease": [{"text": "head and neck squamous cell carcinoma", "start": 170, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "All subjects required chronic, full-time mechanical ventilation because of respiratory failure that was unresponsive to both ERT and preoperative muscle-conditioning exercises.", "output": {"entities": {"gene": [{"text": "ERT", "start": 125, "end": 128}], "disease": [{"text": "respiratory failure", "start": 75, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.", "output": {"entities": {"gene": [{"text": "SEC24C", "start": 102, "end": 108}], "disease": [{"text": "major depression", "start": 139, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEC24C", "start": 102, "end": 108}, "tail": {"text": "major depression", "start": 139, "end": 155}}]}}, "schema": []}
{"input": "The aims of the present study are to investigate genetic alteration in the BGP foci and to characterize them in the' de novo' carcinogenesis.", "output": {"entities": {"gene": [{"text": "BGP", "start": 75, "end": 78}], "disease": [{"text": "carcinogenesis", "start": 126, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.", "output": {"entities": {"gene": [{"text": "COL1A2", "start": 237, "end": 243}], "disease": [{"text": "OI type II", "start": 276, "end": 286}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL1A2", "start": 237, "end": 243}, "tail": {"text": "OI type II", "start": 276, "end": 286}}]}}, "schema": []}
{"input": "TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.", "output": {"entities": {"gene": [{"text": "TMEM240", "start": 0, "end": 7}], "disease": [{"text": "spinocerebellar ataxia 21", "start": 24, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM240", "start": 0, "end": 7}, "tail": {"text": "spinocerebellar ataxia 21", "start": 24, "end": 49}}]}}, "schema": []}
{"input": "These data indicate that adrenomedullin acting via ADMR increases the aggressiveness of pancreatic cancer cells and suggests that these molecules may be useful therapeutic targets.", "output": {"entities": {"gene": [{"text": "ADMR", "start": 51, "end": 55}], "disease": [{"text": "aggressiveness", "start": 70, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Clinical features and pathologic findings of the late-onset form of LCD with an L527R mutation in the TGFBI gene were made clear.", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 102, "end": 107}], "disease": [{"text": "LCD", "start": 68, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBI", "start": 102, "end": 107}, "tail": {"text": "LCD", "start": 68, "end": 71}}]}}, "schema": []}
{"input": "More than 60 single point or deletion mutations of human TBX5 are associated with Holt-Oram syndrome that manifests itself as heart and limb malformations in 1 out of 100, 000 live births.", "output": {"entities": {"gene": [{"text": "TBX5", "start": 57, "end": 61}], "disease": [{"text": "Holt-Oram syndrome", "start": 82, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX5", "start": 57, "end": 61}, "tail": {"text": "Holt-Oram syndrome", "start": 82, "end": 100}}]}}, "schema": []}
{"input": "Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.", "output": {"entities": {"gene": [{"text": "KRAS", "start": 38, "end": 42}], "disease": [{"text": "Noonan syndrome", "start": 82, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRAS", "start": 38, "end": 42}, "tail": {"text": "Noonan syndrome", "start": 82, "end": 97}}]}}, "schema": []}
{"input": "Animals treated with IGF-I also gained weight compared to controls, but this weight gain was less than that seen in GH-treated rats.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 21, "end": 26}], "disease": [{"text": "weight", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "However, when chronic MR activation was induced by aldosterone-salt-uninephrectomy, cardiac hypertrophy was similar between control littermates and DN-EGFR.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 151, "end": 155}], "disease": [{"text": "cardiac hypertrophy", "start": 84, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In hepatolithiasis, EMT-related proteins were more highly expressed in small bile ducts than in medium or large bile ducts.", "output": {"entities": {"gene": [{"text": "EMT", "start": 20, "end": 23}], "disease": [{"text": "hepatolithiasis", "start": 3, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Though FAD is rare (< 10% of all AD), the hallmark features (amyloid plaques, neurofibrillary tangles, synaptic and neuronal loss, neurotransmitter deficits and dementia) are indistinguishable when FAD is compared with typical, common,' non-familial', or sporadic, AD (SAD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 7, "end": 10}], "disease": [{"text": "sporadic", "start": 255, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "In pediatric T-ALL, we have identified 2 RNA processing genes, that is, HNRNPH1/5q35 and DDX3X/Xp11. 3 as new MLLT10 fusion partners.", "output": {"entities": {"gene": [{"text": "HNRNPH1", "start": 72, "end": 79}], "disease": [{"text": "T-ALL", "start": 13, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HNRNPH1", "start": 72, "end": 79}, "tail": {"text": "T-ALL", "start": 13, "end": 18}}]}}, "schema": []}
{"input": "The methylation of the genes Ade-nomatous polyposis coli (APC), glycogen synthase kinase-beta-3 (GSK3beta) and eyes absent 4 (EYA4) was analyzed in 12 colon cancer and 12 normal tissues.", "output": {"entities": {"gene": [{"text": "beta-3", "start": 89, "end": 95}], "disease": [{"text": "polyposis coli", "start": 42, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Copy number aberration, translocation and point mutation of FAT1, FAT2, FAT3, FAT4, FRMD1, FRMD6, NF2, WWC1, WWC2, SAV1, STK3, STK4, MOB1A, MOB1B, LATS1, LATS2, YAP1 and WWTR1/TAZ genes should be comprehensively investigated in various types of human cancers to elucidate the mutation landscape of the FAT‑Hippo signaling cascades.", "output": {"entities": {"gene": [{"text": "STK3", "start": 121, "end": 125}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Additionally, repletion of TNF-α (-/-) mice with TNF-α (+/+) CD8 (+) T cells significantly enhanced the incidence of hydrosalpinx and oviduct dilatation compared to those of TNF-α (-/-) mice but not to the levels found in wild-type mice, suggesting that TNF-α production from CD8 (+) T cells and non-CD8 (+) cells cooperates to induce optimal oviduct pathology following genital chlamydial infection.", "output": {"entities": {"gene": [{"text": "CD8", "start": 61, "end": 64}], "disease": [{"text": "dilatation", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Increasing evidence indicates that in gastric epithelial cells, induction of TFF3 by hypoxia is mediated by HIF-1.", "output": {"entities": {"gene": [{"text": "TFF3", "start": 77, "end": 81}], "disease": [{"text": "hypoxia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is thought to be involved in the pathophysiology of mood disorders and the target of antidepressants.", "output": {"entities": {"gene": [{"text": "Vascular endothelial growth factor", "start": 0, "end": 34}], "disease": [{"text": "mood disorders", "start": 94, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Vascular endothelial growth factor", "start": 0, "end": 34}, "tail": {"text": "mood disorders", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "Currently, the underlying pathophysiology of this inherited secondary NDI is unclear, but there appears to be true AQP2 deficiency.", "output": {"entities": {"gene": [{"text": "AQP2", "start": 115, "end": 119}], "disease": [{"text": "secondary", "start": 60, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "A statistically significant difference in the allelic distribution of G-Asn/G-Ser and G-Ser/G-Ser genotype between proven fathers and infertile men but there were not any statistically significant difference in the overall frequency of the four FSHR haplotypes.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 245, "end": 249}], "disease": [{"text": "infertile", "start": 134, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The experience in this case suggests that brain imaging is important in managing postoperative confusion, and any patient with diffuse leukoencephalopathy of unknown etiology may need to be tested for NOTCH3 mutations.", "output": {"entities": {"gene": [{"text": "NOTCH3", "start": 201, "end": 207}], "disease": [{"text": "diffuse leukoencephalopathy", "start": 127, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "This result suggests that smoking may induce inflammation measured as TNF-alpha level or WBC count and combinations of the GSTM1 and GSTP1 polymorphisms may modify the effect of smoking on serum TNF-alpha level.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 70, "end": 79}], "disease": [{"text": "smoking", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Effect of atorvastatin on circulating proinflammatory T-lymphocyte subsets and soluble CD40 ligand in patients with stable coronary artery disease--a randomized, placebo-controlled study.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 87, "end": 98}], "disease": [{"text": "coronary artery disease", "start": 123, "end": 146}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD40 ligand", "start": 87, "end": 98}, "tail": {"text": "coronary artery disease", "start": 123, "end": 146}}]}}, "schema": []}
{"input": "ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.", "output": {"entities": {"gene": [{"text": "ATRX", "start": 0, "end": 4}], "disease": [{"text": "ATR-X syndrome", "start": 113, "end": 127}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATRX", "start": 0, "end": 4}, "tail": {"text": "ATR-X syndrome", "start": 113, "end": 127}}]}}, "schema": []}
{"input": "We have carried out a study on BRCA1 and BRCA2 along with p53 gene mutations in both sporadic as well as familial breast cancer patients from India where breast cancer is fast emerging as a major cancer among premenopausal urban women.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 58, "end": 66}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of the lymphotoxin (LT)-α gene polymorphism + 249A/G with type 1 diabetes.", "output": {"entities": {"gene": [{"text": "α gene", "start": 56, "end": 62}], "disease": [{"text": "type 1 diabetes", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.", "output": {"entities": {"gene": [{"text": "KCTD1", "start": 22, "end": 27}], "disease": [{"text": "SEN syndrome", "start": 41, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCTD1", "start": 22, "end": 27}, "tail": {"text": "SEN syndrome", "start": 41, "end": 53}}]}}, "schema": []}
{"input": "METHODS: Immunohistochemistry and immunoblotting were used to assess NRP2 expression levels in colorectal tumors and colorectal cancer cell lines, respectively.", "output": {"entities": {"gene": [{"text": "NRP2", "start": 69, "end": 73}], "disease": [{"text": "colorectal tumors", "start": 95, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In HT29 human colon cancer cells, Nox1 knockdown induced G1 cell cycle arrest, whereas in Caco-2 cells there was a strong apoptotic response, with increased levels of cleaved caspase-3,-6,-7 and poly (ADP-ribose) polymerase.", "output": {"entities": {"gene": [{"text": "Nox1", "start": 34, "end": 38}], "disease": [{"text": "colon cancer", "start": 14, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nox1", "start": 34, "end": 38}, "tail": {"text": "colon cancer", "start": 14, "end": 26}}]}}, "schema": []}
{"input": "The results suggest that MLCK has a crucial role in the pathogenesis of ALI.", "output": {"entities": {"gene": [{"text": "MLCK", "start": 25, "end": 29}], "disease": [{"text": "ALI", "start": 72, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLCK", "start": 25, "end": 29}, "tail": {"text": "ALI", "start": 72, "end": 75}}]}}, "schema": []}
{"input": "Taken together, these data suggest that the OXT system is a novel neuroendocrine mediator in human skin homoeostasis and clinically relevant to stressed skin conditions like AD.", "output": {"entities": {"gene": [{"text": "OXT", "start": 44, "end": 47}], "disease": [{"text": "skin conditions", "start": 153, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13).", "output": {"entities": {"gene": [{"text": "SCN8A", "start": 18, "end": 23}], "disease": [{"text": "EIEE13", "start": 120, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN8A", "start": 18, "end": 23}, "tail": {"text": "EIEE13", "start": 120, "end": 126}}]}}, "schema": []}
{"input": "This is the first study to show that ATF6 is activated by ischemia but inactivated upon reperfusion, suggesting that it may play a role in the induction of ER stress response genes during ischemia that could have a preconditioning effect on cell survival during reperfusion.", "output": {"entities": {"gene": [{"text": "ATF6", "start": 37, "end": 41}], "disease": [{"text": "ischemia", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that EXP1 and/or EXP2/Cyclin D1 may play an important role in the progression of human esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "Cyclin D1", "start": 44, "end": 53}], "disease": [{"text": "esophageal", "start": 109, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "While PIAS1 and PIAS3 enhance the transcriptional activity of AR, PIASy acts as a potent inhibitor of AR in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "PIASy", "start": 66, "end": 71}], "disease": [{"text": "prostate cancer", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "RAD50-IL13 region has been recently identified as one of critical asthma susceptibility loci in genome-wide association studies, yet the role of these genetic variants or single-nucleotide polymorphisms (SNPs) in the risk of developing asthma in Northeastern Han Chinese remains largely unknown.", "output": {"entities": {"gene": [{"text": "RAD50", "start": 0, "end": 5}], "disease": [{"text": "asthma susceptibility", "start": 66, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in the 5'-flanking region of the tumor necrosis factor (TNF)-alpha gene were examined to study the genetic background of type 1 diabetes in Japanese.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 75, "end": 85}], "disease": [{"text": "type 1 diabetes", "start": 135, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.", "output": {"entities": {"gene": [{"text": "SACS", "start": 37, "end": 41}], "disease": [{"text": "ARSACS", "start": 64, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SACS", "start": 37, "end": 41}, "tail": {"text": "ARSACS", "start": 64, "end": 70}}]}}, "schema": []}
{"input": "In addition, ZJE treatment significantly decreased the reactive gliosis of astrocytes and microglia in the CA1 region compared to that in the vehicle-treated group 4 days after ischemia/reperfusion.", "output": {"entities": {"gene": [{"text": "CA1", "start": 107, "end": 110}], "disease": [{"text": "ischemia", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "The large majority of NSD1 abnormalities occur de novo and there are very few familial cases.", "output": {"entities": {"gene": [{"text": "NSD1", "start": 22, "end": 26}], "disease": [{"text": "abnormalities", "start": 27, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Our finding provides evidence that apigenin sensitizes BEL-7402/ADM cells to doxorubicin through miR-520b/ATG7 pathway, which furtherly supports apigenin as a potential chemo-sensitizer for hepatocellular carcinoma.", "output": {"entities": {"gene": [{"text": "ATG7", "start": 106, "end": 110}], "disease": [{"text": "hepatocellular carcinoma", "start": 190, "end": 214}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATG7", "start": 106, "end": 110}, "tail": {"text": "hepatocellular carcinoma", "start": 190, "end": 214}}]}}, "schema": []}
{"input": "Although production of IFN-gamma was increased in IL-4/IL-10 double-knockout mice, depletion of gamma interferon did not affect worm elimination, so it seems unlikely to be the major factor in mediating resistance in IL-4/IL-10 KO mice.", "output": {"entities": {"gene": [{"text": "IFN", "start": 23, "end": 26}], "disease": [{"text": "worm", "start": 128, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We concluded that deficiency of nonglobin EKLF target genes is a major contributor to the definitive red blood cell abnormalities and prenatal death in EKLF (-/-) embryos.", "output": {"entities": {"gene": [{"text": "EKLF", "start": 42, "end": 46}], "disease": [{"text": "abnormalities", "start": 116, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In a small set of breast tumor samples, no elevations in hyal-1, hyal-2 or LUCA3 mRNA were seen.", "output": {"entities": {"gene": [{"text": "LUCA3", "start": 75, "end": 80}], "disease": [{"text": "breast tumor", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Angioplasty in acute myocardial infarction after low-dose alteplase and abciximab in transferred patients. A comparison with primary angioplasty on site.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 58, "end": 67}], "disease": [{"text": "myocardial infarction", "start": 21, "end": 42}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alteplase", "start": 58, "end": 67}, "tail": {"text": "myocardial infarction", "start": 21, "end": 42}}]}}, "schema": []}
{"input": "While aberrant bone development was mild in the original ATR-SS patient, some of the patients described here display skeletal abnormalities including, in one patient, small patellae, a feature characteristically observed in Meier-Gorlin Syndrome.", "output": {"entities": {"gene": [{"text": "ATR", "start": 57, "end": 60}], "disease": [{"text": "mild", "start": 36, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC.", "output": {"entities": {"gene": [{"text": "NKX2-1", "start": 15, "end": 21}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that 1) ANG-(1-7) increased ANP secretion at high atrial pacing via the Mas/PI3K/Akt pathway and the activation of Na (+)/H (+) exchanger-1 and CaMKII and 2) ANG-(1-7) decreased cardiac hypertrophy which might be mediated by ANP.", "output": {"entities": {"gene": [{"text": "ANG", "start": 30, "end": 33}], "disease": [{"text": "cardiac hypertrophy", "start": 200, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).", "output": {"entities": {"gene": [{"text": "GIT", "start": 150, "end": 153}], "disease": [{"text": "solitary fibrous tumors", "start": 222, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "In addition, CETP expression did not normalize other characteristics of SR-BI deficiency, including female infertility, reticulocytosis, thrombocytopenia, and impaired platelet aggregation.", "output": {"entities": {"gene": [{"text": "CETP", "start": 13, "end": 17}], "disease": [{"text": "thrombocytopenia", "start": 137, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation.", "output": {"entities": {"gene": [{"text": "SLC1A1", "start": 20, "end": 26}], "disease": [{"text": "dicarboxylic aminoaciduria", "start": 176, "end": 202}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC1A1", "start": 20, "end": 26}, "tail": {"text": "dicarboxylic aminoaciduria", "start": 176, "end": 202}}]}}, "schema": []}
{"input": "This study demonstrates that a reciprocal relationship exists between p53 and BAX in sporadic colorectal cancers, and further supports the hypothesis that MSI-low tumors are biologically similar to MSI-null tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 70, "end": 73}], "disease": [{"text": "sporadic", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Phosphorylation of the alpha subunit of translation initiation factor-2 by PKR mediates protein synthesis inhibition in the mouse brain during status epilepticus.", "output": {"entities": {"gene": [{"text": "PKR", "start": 75, "end": 78}], "disease": [{"text": "status epilepticus", "start": 143, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PKR", "start": 75, "end": 78}, "tail": {"text": "status epilepticus", "start": 143, "end": 161}}]}}, "schema": []}
{"input": "The results showed that single Smad7 or uPA adenovirus reduced CCL4 induced liver fibrosis significantly; while combination of Smad7 and uPA had more significant therapeutic effect on CCl4 induced liver fibrosis.", "output": {"entities": {"gene": [{"text": "CCL4", "start": 63, "end": 67}], "disease": [{"text": "adenovirus", "start": 44, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "The relative abundances of HINT1, MDH1, and SERPINI1 mRNA in the DLPFC in individuals with schizophrenia and controls were measured by real-time quantitative polymerase chain reaction (Q-PCR) and for HINT1 expression by in situ hybridization.", "output": {"entities": {"gene": [{"text": "SERPINI1", "start": 44, "end": 52}], "disease": [{"text": "schizophrenia", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SERPINI1", "start": 44, "end": 52}, "tail": {"text": "schizophrenia", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "In summary, the data from this study indicate that increased Cu transportation due to upregulated CTR1 and ATP7A in pulmonary arteries and PASMC contributes to the development of hypoxia-induced pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "CTR1", "start": 98, "end": 102}], "disease": [{"text": "pulmonary hypertension", "start": 195, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTR1", "start": 98, "end": 102}, "tail": {"text": "pulmonary hypertension", "start": 195, "end": 217}}]}}, "schema": []}
{"input": "XRCC5, PTCH2, eEF1A2 and PPP1R14B were significantly overexpressed in OCCC and associated endometriosis, but not in benign endometriosis (p ⩽ 0. 004).", "output": {"entities": {"gene": [{"text": "PPP1R14B", "start": 25, "end": 33}], "disease": [{"text": "endometriosis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Several lines of evidence support our hypothesis; higher value of IL-6 was recorded in children with idiopathic osteoporosis than in healthy controls; TNF-alpha knock-out mice do not lose bone after ovariectomy; polymorphism of TNFRSF1B gene which encodes 75 Kd TNF receptor is associated with BMD; treatment with anti-TNF-alpha antibody exert beneficial effect on bone metabolism in patients with rheumatoid arthritis and finally, raloxifene inhibit osteoclast activity by reducing TNF-alpha and IL-6 synthesis.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 66, "end": 70}], "disease": [{"text": "idiopathic osteoporosis", "start": 101, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The actions of GLP-1 on β-cells and the nervous and digestive systems are well known.", "output": {"entities": {"gene": [{"text": "GLP-1", "start": 15, "end": 20}], "disease": [{"text": "nervous", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Proteinase changes may result from abnormalities of growth factors, such as HGF and FGF-3, in DR corneas.", "output": {"entities": {"gene": [{"text": "HGF", "start": 76, "end": 79}], "disease": [{"text": "abnormalities", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Blocking interaction of TNFalpha with its receptor by the addition of excess TNFalpha-binding protein (TBP)-1 (a soluble form of TNF receptor-1) was effective in animal models of endometriosis.", "output": {"entities": {"gene": [{"text": "TBP", "start": 103, "end": 106}], "disease": [{"text": "endometriosis", "start": 179, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Double-hit or triple-hit B-cell lymphomas (DHL and THL) are rare subtype lymphomas usually associated with poor prognosis.", "output": {"entities": {"gene": [{"text": "THL", "start": 51, "end": 54}], "disease": [{"text": "hit", "start": 7, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "Tissue fibrosis results when dysregulation of extracellular matrix (ECM) turnover favors deposition of collagen and other ECM proteins over degradation.", "output": {"entities": {"gene": [{"text": "ECM", "start": 68, "end": 71}], "disease": [{"text": "fibrosis", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data suggest that MBD4 inactivation may contribute to tumorigenesis, acting as a modifier of MMR-deficient cancer phenotype.", "output": {"entities": {"gene": [{"text": "MMR", "start": 115, "end": 118}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In case of mEPHX, R139R imposed a risk factor for HCC with both control (OR = 1. 81) and chronic hepatitis-infected (OR = 2. 06) subjects.", "output": {"entities": {"gene": [{"text": "HCC", "start": 50, "end": 53}], "disease": [{"text": "chronic hepatitis", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Only proteinuric mice exhibited histologic features consistent with human ACTN4-associated FSGS, including segmental sclerosis and tuft adhesion of some glomeruli, tubular dilatation, mesangial matrix expansion, as well as regions of podocyte vacuolization and foot process fusion.", "output": {"entities": {"gene": [{"text": "ACTN4", "start": 74, "end": 79}], "disease": [{"text": "sclerosis", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The NAT2 fast acetylator and EPHX1 low-activity genotypes were positively associated with MM in the Italian study, while they were negatively associated with this malignancy in the Finnish one.", "output": {"entities": {"gene": [{"text": "EPHX1", "start": 29, "end": 34}], "disease": [{"text": "MM", "start": 90, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EPHX1", "start": 29, "end": 34}, "tail": {"text": "MM", "start": 90, "end": 92}}]}}, "schema": []}
{"input": "The focus of this study was the PG versican, which presumably defines keloid volume because of its ability to retain large amounts of water through its component glycosaminoglycans (GAGs).", "output": {"entities": {"gene": [{"text": "versican", "start": 35, "end": 43}], "disease": [{"text": "keloid", "start": 70, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Rosiglitazone treatment restored basal and agonist-induced coupling of D (1A) receptors to G (s) proteins and reduced basal serine phosphorylation of D (1A) receptors, GRK4 expression, and translocation of GRK2 to the plasma membrane in proximal tubules of OZRs.", "output": {"entities": {"gene": [{"text": "GRK2", "start": 206, "end": 210}], "disease": [{"text": "translocation", "start": 189, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 24, "end": 33}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 64, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 24, "end": 33}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 64, "end": 102}}]}}, "schema": []}
{"input": "Total RNA was isolated from 118 tissue specimens from benign prostate hyperplasia (BPH) and CaP patients and a highly sensitive quantitative real-time RT-PCR (qRT-PCR) method for DDC mRNA quantification has been developed using the SYBR Green chemistry.", "output": {"entities": {"gene": [{"text": "DDC", "start": 179, "end": 182}], "disease": [{"text": "benign prostate hyperplasia", "start": 54, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We further showed that hyperglycemia promoted the perineural invasion (PNI) of PanCa in vivo.", "output": {"entities": {"gene": [{"text": "PNI", "start": 71, "end": 74}], "disease": [{"text": "hyperglycemia", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Adenosine A2A receptor deficient mice are partially resistant to limbic seizures.", "output": {"entities": {"gene": [{"text": "Adenosine A2A receptor", "start": 0, "end": 22}], "disease": [{"text": "seizures", "start": 72, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Adenosine A2A receptor", "start": 0, "end": 22}, "tail": {"text": "seizures", "start": 72, "end": 80}}]}}, "schema": []}
{"input": "RAD51, genomic stability, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 0, "end": 5}], "disease": [{"text": "tumorigenesis", "start": 30, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "This was shown to be due to the induction of a phenotype analogous to mild I-cell disease in cells expressing large amounts of IDUA.", "output": {"entities": {"gene": [{"text": "IDUA", "start": 127, "end": 131}], "disease": [{"text": "mild", "start": 70, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We therefore examined whether polymorphisms in DNA base-excision repair (BER) genes, XRCC1 G399A and OGG1 C326G, were associated with CCA risk and whether they modified the effect of smoking and alcohol drinking in the Thai population.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 85, "end": 90}], "disease": [{"text": "smoking", "start": 183, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24. 3-q25. 2), a mutation known to be associated with glaucoma in India.", "output": {"entities": {"gene": [{"text": "MYOC", "start": 183, "end": 187}], "disease": [{"text": "congenital microcoria", "start": 49, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Linear regression analysis identified a direct proportional relationship between PLK/PNPO immunoreactivity and normalized population spike amplitude ratio in the dentate gyrus and the CA1 region as excluded the data obtained from 4 weeks after SE.", "output": {"entities": {"gene": [{"text": "PNPO", "start": 85, "end": 89}], "disease": [{"text": "SE", "start": 244, "end": 246}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PNPO", "start": 85, "end": 89}, "tail": {"text": "SE", "start": 244, "end": 246}}]}}, "schema": []}
{"input": "The expression level of RhoC is correlated to clinical stage and vascularization in ovarian cancer.", "output": {"entities": {"gene": [{"text": "RhoC", "start": 24, "end": 28}], "disease": [{"text": "vascularization", "start": 65, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We performed extensive molecular characterization of 21 cases of formalin-fixed, paraffin-embedded sporadic SCAs consisting in genome-wide allelic loss analysis with 79 microsatellite markers covering all 22 autosomes, assessment of microsatellite instability, and mutational analysis of the VHL, K-ras, and p53 genes in nine cases for which frozen tissue was available.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 308, "end": 317}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The kinetics of dissociation parallels HER3 dephosphorylation and uncoupling from PI3K activity, leading to downregulation of proximal and distal AKT signaling, and correlates with the antiproliferative effects of trastuzumab.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 82, "end": 86}], "disease": [{"text": "dissociation", "start": 16, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "IL-4 preferentially colocalized to the tryptase +-chymase + mast cell phenotype (MC (TC)) with MC (TC) cells comprising 93. 3% of cytokine + mast cells in symptomatic SAC (P = 0. 0017), 89. 2% in asymptomatic SAC (P = 0. 0008), and 77. 8% in normal subjects (P = 0. 0472).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 0, "end": 4}], "disease": [{"text": "asymptomatic", "start": 196, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that VEGF may play an important role in keloid formation by altering ECM homeostasis toward a state of impaired degradation and excessive accumulation.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 28, "end": 32}], "disease": [{"text": "keloid formation", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In striking contrast to the human syndrome, TTD mice manifest a dear susceptibility to UV-and 7, 12-dimethylbenz [a] anthracene-induced skin carcinogenesis, albeit not as pronounced as the totally NER-deficient XPA mice.", "output": {"entities": {"gene": [{"text": "XPA", "start": 211, "end": 214}], "disease": [{"text": "skin carcinogenesis", "start": 136, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "SRF, MYC, E2F1, CREB1, LEF1, TCF7, HNF1B/HNF1A and HNF4A), our data suggest that epithelial dedifferentiation accompanied by aberrant activation and cross-talk of specific signaling pathways may be required for PKD1 cyst growth and disease progression.", "output": {"entities": {"gene": [{"text": "CREB1", "start": 16, "end": 21}], "disease": [{"text": "cyst", "start": 216, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results demonstrate that AM acts as a pain-inducing peptide in the dorsal horn.", "output": {"entities": {"gene": [{"text": "AM", "start": 45, "end": 47}], "disease": [{"text": "pain", "start": 58, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AM", "start": 45, "end": 47}, "tail": {"text": "pain", "start": 58, "end": 62}}]}}, "schema": []}
{"input": "Occludin, ZO-1, JAM-1, and claudin-1,-3,-4, and-14, but not claudin-7, mRNAs were decreased in recurrent tonsillitis compared with those of tonsillar hypertrophy.", "output": {"entities": {"gene": [{"text": "JAM-1", "start": 16, "end": 21}], "disease": [{"text": "tonsillar hypertrophy", "start": 140, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In this study, BPI-ANCA were demonstrated most often in patients with ulcerative colitis (36/92, 39%), Crohn' s disease (17/66, 26%) and cystic fibrosis (11/14, 79%), but also in patients with rheumatoid arthritis (8/40, 20%), systemic lupus erythematosus (SLE) (111/65, 17%) and mixed connective tissue disease (4/18, 22%).", "output": {"entities": {"gene": [{"text": "BPI", "start": 15, "end": 18}], "disease": [{"text": "mixed connective tissue disease", "start": 280, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "We conclude that TRPC1 and TRPC6 channels cooperate with TRPV4 channels to mediate mechanical hyperalgesia and primary afferent nociceptor sensitization, although they may have distinctive roles.", "output": {"entities": {"gene": [{"text": "TRPC1", "start": 17, "end": 22}], "disease": [{"text": "mechanical hyperalgesia", "start": 83, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Here, we evaluated, for the first time, the feasibility and clinical significances of circulating serum lncRNA RP11-445H22. 4 as biomarker for the detection of breast cancer (BC).", "output": {"entities": {"gene": [{"text": "RP11-445H22. 4", "start": 111, "end": 125}], "disease": [{"text": "breast cancer", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1.", "output": {"entities": {"gene": [{"text": "myosin VIIA", "start": 30, "end": 41}], "disease": [{"text": "USH1", "start": 232, "end": 236}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myosin VIIA", "start": 30, "end": 41}, "tail": {"text": "USH1", "start": 232, "end": 236}}]}}, "schema": []}
{"input": "Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 96, "end": 101}], "disease": [{"text": "sporadic", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "However, no contribution of the 5-HTR2a polymorphism on the bipolar disorder or on the HA personality trait emerged.", "output": {"entities": {"gene": [{"text": "HTR2a", "start": 34, "end": 39}], "disease": [{"text": "personality trait", "start": 90, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Here we report the first mutation (G2950A) in exon 24 of the neonatal region of the FBN1 gene, associated with a classic MfS phenotype.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 84, "end": 88}], "disease": [{"text": "MfS", "start": 121, "end": 124}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 84, "end": 88}, "tail": {"text": "MfS", "start": 121, "end": 124}}]}}, "schema": []}
{"input": "Another novel mechanism, which we propose in this review article, is that PSP94 may protect against prostate cancer by preventing or limiting an intracellular fungal infection in the prostate.", "output": {"entities": {"gene": [{"text": "PSP94", "start": 74, "end": 79}], "disease": [{"text": "fungal infection", "start": 159, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "There were no dimensional associations between the GIT1 genotypes and both hyperactivity and/impulsivity, and only hyperactivity Swanson, Nolan and Pelham Scale-Version IV (SNAP-IV) scores (P = 0. 609 and P = 0. 247, respectively).", "output": {"entities": {"gene": [{"text": "GIT1", "start": 51, "end": 55}], "disease": [{"text": "impulsivity", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "ANG II infusion resulted in higher mean arterial pressure and cardiac hypertrophy as indicated by increased whole heart weight/body weight ratio, whole heart weight/tibia length ratio, left ventricular weight/tibia length ratio, and mRNA expressions of cardiac atrial natriuretic peptide and beta-myosin heavy chain.", "output": {"entities": {"gene": [{"text": "ANG", "start": 0, "end": 3}], "disease": [{"text": "cardiac hypertrophy", "start": 62, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Tay-Sachs disease mutations in HEXA target the & #945; chain of hexosaminidase A to endoplasmic reticulum-associated degradation.", "output": {"entities": {"gene": [{"text": "HEXA", "start": 31, "end": 35}], "disease": [{"text": "Tay-Sachs disease", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HEXA", "start": 31, "end": 35}, "tail": {"text": "Tay-Sachs disease", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "The objective of this study was to test the hypothesis that ex vivo methyl 2-cyano-3, 12-dioxoolean-1, 9-dien-28-oate (CDDO-Me) activates NRF2-regulated antioxidant genes in white blood cells from patients with septic shock and protects against LPS-induced inflammation and reactive oxidative species production.", "output": {"entities": {"gene": [{"text": "NRF2", "start": 138, "end": 142}], "disease": [{"text": "septic shock", "start": 211, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "As a consequence, PTX3 prevents the binding of FGF8b to its receptors, inhibits FGF8b-driven ERK1/2 activation, cell proliferation, and chemotaxis in endothelial cells, and suppresses FGF8b-induced neovascularization in vivo.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 93, "end": 97}], "disease": [{"text": "neovascularization", "start": 198, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "We further demonstrate, using the chronic model of TSLP-mediated airway inflammation, that blockade of both IL-4 and IL-13 responses, through administration of an anti-IL-4R alpha mAb, reversed asthma-like symptoms, when given to mice with established disease.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 108, "end": 112}], "disease": [{"text": "inflammation", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Injections of human TNF-α (hTNF), an agonist of mouse TNFR1, stimulated bone resorption lacunae on the calvariae in WT mice, but mouse TNF-α (mTNF), an agonist of both mouse TNFR1 and TNFR2, could not.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 184, "end": 189}], "disease": [{"text": "bone resorption", "start": 72, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "A multiplicative interaction between NAT2 intermediate or slow genotype and pack-years of smoking was found (P < 0. 001), but GSTM1 null genotype was not (P = 0. 06).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 37, "end": 41}], "disease": [{"text": "smoking", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Most importantly, the delivery of a single dose of C-CAM adenovirus was able to repress the growth of PC-3-induced tumors in nude mice for at least 3 weeks.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 102, "end": 106}], "disease": [{"text": "adenovirus", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, the existence of apparently asymptomatic carriers of mutations in the insulin receptor gene, such as the father in the present study, suggests that the prevalence of mutations in the insulin receptor gene may be higher than would be predicted on the basis of the observed prevalence of patients with extreme insulin resistance.", "output": {"entities": {"gene": [{"text": "insulin receptor gene", "start": 83, "end": 104}], "disease": [{"text": "asymptomatic", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We have therefore explored the influence of lack of both bradykinin receptors (B1R and B2R) on diabetic nephropathy, neuropathy, and osteopathy in male mice heterozygous for the Akita diabetogenic mutation in the insulin 2 gene (Ins2).", "output": {"entities": {"gene": [{"text": "B1R", "start": 79, "end": 82}], "disease": [{"text": "neuropathy", "start": 117, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Bilateral infusions of neurotensin into the globus pallidus reversed haloperidol-induced parkinsonian catalepsy in rats.", "output": {"entities": {"gene": [{"text": "neurotensin", "start": 23, "end": 34}], "disease": [{"text": "catalepsy", "start": 102, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "neurotensin", "start": 23, "end": 34}, "tail": {"text": "catalepsy", "start": 102, "end": 111}}]}}, "schema": []}
{"input": "Large granular lymphocyte (LGL) leukemia is a chronic lymphoproliferative disease in which T-bet [T-box transcription factor 21 gene (tbx21)] overexpression may play a pathogenic role.", "output": {"entities": {"gene": [{"text": "transcription factor 21 gene", "start": 104, "end": 132}], "disease": [{"text": "leukemia", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Catalase activity in cerebellum, hippocampus, frontal cortex and striatum after status epilepticus induced by pilocarpine in Wistar rats.", "output": {"entities": {"gene": [{"text": "Catalase", "start": 0, "end": 8}], "disease": [{"text": "status epilepticus", "start": 80, "end": 98}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Catalase", "start": 0, "end": 8}, "tail": {"text": "status epilepticus", "start": 80, "end": 98}}]}}, "schema": []}
{"input": "Several structural mutations of UGT1A1, for example, a G71R substitution, have been reported to cause mild reduction of UGT activity toward bilirubin, resulting in mild hyperbilirubinemia, consistent with Gilbert syndrome.", "output": {"entities": {"gene": [{"text": "UGT1A1", "start": 32, "end": 38}], "disease": [{"text": "Gilbert syndrome", "start": 205, "end": 221}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UGT1A1", "start": 32, "end": 38}, "tail": {"text": "Gilbert syndrome", "start": 205, "end": 221}}]}}, "schema": []}
{"input": "Activating calcium sensing receptor (CaSR) mutations cause autosomal dominant hypocalcemia (ADH) characterized by low serum calcium, inappropriately low PTH and relative hypercalciuria.", "output": {"entities": {"gene": [{"text": "ADH", "start": 92, "end": 95}], "disease": [{"text": "hypercalciuria", "start": 170, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "In this randomized, double-blind, placebo-controlled study the safety, tolerability, and clinical response of guselkumab, an anti-IL-23-specific mAb, were evaluated in patients with moderate-to-severe plaque psoriasis.", "output": {"entities": {"gene": [{"text": "IL-23", "start": 130, "end": 135}], "disease": [{"text": "blind", "start": 27, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "Slc23a1 (-/-) mice died within a few minutes of birth with respiratory failure and intraparenchymal brain hemorrhage.", "output": {"entities": {"gene": [{"text": "Slc23a1", "start": 0, "end": 7}], "disease": [{"text": "respiratory failure", "start": 59, "end": 78}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Slc23a1", "start": 0, "end": 7}, "tail": {"text": "respiratory failure", "start": 59, "end": 78}}]}}, "schema": []}
{"input": "These data suggest that one SNP of the PPARG genotype accounted for a significant portion of the total body weight reduction variance in response to a short-term intervention consisting of calorie restriction; however, no relationship was found between these SNPs and the changes in CHD risk factors which accompanied weight loss.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 39, "end": 44}], "disease": [{"text": "weight loss", "start": 318, "end": 329}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we showed that ATGL knockdown increased monocyte adhesion to the endothelium through enhanced TNFα-induced ICAM-1 expression via activation of NFκB and PKC.", "output": {"entities": {"gene": [{"text": "NFκB", "start": 158, "end": 162}], "disease": [{"text": "adhesion", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We sequenced & #8764; 6. 9 kb MIR137/MIR2682 and upstream regulatory sequences in 2, 610 SZ cases and 2, 611 controls of European ancestry.", "output": {"entities": {"gene": [{"text": "MIR2682", "start": 37, "end": 44}], "disease": [{"text": "SZ", "start": 89, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MIR2682", "start": 37, "end": 44}, "tail": {"text": "SZ", "start": 89, "end": 91}}]}}, "schema": []}
{"input": "The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 10, "end": 14}], "disease": [{"text": "cystic fibrosis", "start": 89, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 10, "end": 14}, "tail": {"text": "cystic fibrosis", "start": 89, "end": 104}}]}}, "schema": []}
{"input": "Although no significant differences in systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting glucose and UAE were observed among genotypes at the initial examination, during the 3 years of antihypertensive treatment the slope values for the DBP, fasting glucose and UAE differed significantly despite no differences in the distribution of treatments being present.", "output": {"entities": {"gene": [{"text": "DBP", "start": 96, "end": 99}], "disease": [{"text": "systolic blood pressure", "start": 39, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study is to investigate whether the presence of a protein Z polymorphism is a risk factor for the development and outcome of sepsis.", "output": {"entities": {"gene": [{"text": "protein Z", "start": 65, "end": 74}], "disease": [{"text": "sepsis", "start": 140, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We investigated the localization of pituitary homeo box 1 (Ptx1) protein in five human non-neoplastic pituitaries and 73 of all types of pituitary adenomas using immunohistochemistry, and the expression of Ptx1 messenger RNA (mRNA) in 18 representative pituitary adenomas using the reverse transcriptase polymerase chain reaction (RT-PCR) technique.", "output": {"entities": {"gene": [{"text": "homeo box 1", "start": 46, "end": 57}], "disease": [{"text": "non-neoplastic", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.", "output": {"entities": {"gene": [{"text": "CHDH", "start": 152, "end": 156}], "disease": [{"text": "infertile", "start": 390, "end": 399}]}, "relations": {}}, "schema": []}
{"input": "This work help us to understand the effect of NF-κB on specific target molecules of podocytes, and suggest that targeting the NF-κB-UCH-L1 interaction could be a novel therapeutic strategy for the treatment of podocyte lesions and proteinuria.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 46, "end": 51}], "disease": [{"text": "proteinuria", "start": 231, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "An EGFR-associated gene expression signature was identified in the basal-like SUM102 cell line and was used to classify a diverse set of sporadic breast tumors.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 3, "end": 7}], "disease": [{"text": "sporadic", "start": 137, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "The plasma proMBP level was significantly higher in patients with SM with eosinophilia (p < 0. 001), IE (p < 0. 001) and MPN with eosinophilia (p = 0. 002) than in healthy controls.", "output": {"entities": {"gene": [{"text": "proMBP", "start": 11, "end": 17}], "disease": [{"text": "eosinophilia", "start": 74, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The CETP mediates catabolism of HDL cholesteryl esters, with secondary decreases in HDL size and protein content.", "output": {"entities": {"gene": [{"text": "CETP", "start": 4, "end": 8}], "disease": [{"text": "secondary", "start": 61, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we show that each of these transcription factors is robustly expressed in adult dopamine neurons in human midbrain, and that cocaine abuse is associated with a significant decrease in the abundance of Nurr1 and Pitx3 in these cells.", "output": {"entities": {"gene": [{"text": "Nurr1", "start": 223, "end": 228}], "disease": [{"text": "cocaine abuse", "start": 147, "end": 160}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nurr1", "start": 223, "end": 228}, "tail": {"text": "cocaine abuse", "start": 147, "end": 160}}]}}, "schema": []}
{"input": "Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.", "output": {"entities": {"gene": [{"text": "SLC26A3", "start": 18, "end": 25}], "disease": [{"text": "congenital chloride diarrhea", "start": 61, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC26A3", "start": 18, "end": 25}, "tail": {"text": "congenital chloride diarrhea", "start": 61, "end": 89}}]}}, "schema": []}
{"input": "An elevated risk of gastric cancer was observed in patients with H. pylori infection, smoking, or alcohol consumption, and together with the GSTP1 Ile/Val + Val/Val genotype (OR = 3. 696; 95% CI = 2. 475-5. 521; OR = 1. 638; 95% CI = 1. 044-2. 571; OR = 1. 641; 95% CI = 0. 983-2. 739, respectively) (p < 0. 05).", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 141, "end": 146}], "disease": [{"text": "alcohol consumption", "start": 98, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.", "output": {"entities": {"gene": [{"text": "FOXL2", "start": 79, "end": 84}], "disease": [{"text": "BPES", "start": 88, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXL2", "start": 79, "end": 84}, "tail": {"text": "BPES", "start": 88, "end": 92}}]}}, "schema": []}
{"input": "These results indicate that the effect of MSR-A deficiency on atherogenesis may depend on the presence or absence of apo E.", "output": {"entities": {"gene": [{"text": "MSR", "start": 42, "end": 45}], "disease": [{"text": "atherogenesis", "start": 62, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 136, "end": 142}], "disease": [{"text": "juvenile polyposis of infancy", "start": 70, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1A", "start": 136, "end": 142}, "tail": {"text": "juvenile polyposis of infancy", "start": 70, "end": 99}}]}}, "schema": []}
{"input": "The microarray-based expression of QKI was evaluated in cortical and subcortical brain regions from suicide victims with a diagnosis of major depression (n = 16) and control subjects (n = 13).", "output": {"entities": {"gene": [{"text": "QKI", "start": 35, "end": 38}], "disease": [{"text": "major depression", "start": 136, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "QKI", "start": 35, "end": 38}, "tail": {"text": "major depression", "start": 136, "end": 152}}]}}, "schema": []}
{"input": "The results for smoking were consistent with an inactivation role for NAT2 in breast cancer.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 70, "end": 74}], "disease": [{"text": "smoking", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Chronic inflammatory airway diseases like asthma and chronic obstructive pulmonary disease (COPD) are characterized by airway remodeling with altered extracellular matrix (ECM) deposition.", "output": {"entities": {"gene": [{"text": "ECM", "start": 172, "end": 175}], "disease": [{"text": "airway remodeling", "start": 119, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Compared with that of chronic cervicitis (CC), hyperplasia of mammary glands (HMG), ovarian benign lesions (OBL) and endometrium benign lesions (EBL), the expression of hiwi, Ang-2 and Tie-2 was increased significantly in uterine cervical cancer (UCC), breast carcinoma (BC), ovarian cancer (OC) and endometrial cancer (EC) (P < 0. 01).", "output": {"entities": {"gene": [{"text": "hiwi", "start": 169, "end": 173}], "disease": [{"text": "chronic cervicitis", "start": 22, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "The authors demonstrated that RIZ1 expression is lost in thyroid tumor cell lines and is also significantly reduced in thyroid carcinomas, when compared with normal thyroid tissues (P & lt;. 0001) and benign tumors (P =. 0003).", "output": {"entities": {"gene": [{"text": "RIZ1", "start": 30, "end": 34}], "disease": [{"text": "thyroid carcinomas", "start": 119, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RIZ1", "start": 30, "end": 34}, "tail": {"text": "thyroid carcinomas", "start": 119, "end": 137}}]}}, "schema": []}
{"input": "Thus, preserved stimulation of proximal tubule transport through the insulin/IRS2/PI3-K pathway may play an important role in the pathogenesis of hypertension associated with metabolic syndrome.", "output": {"entities": {"gene": [{"text": "PI3", "start": 82, "end": 85}], "disease": [{"text": "metabolic syndrome", "start": 175, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "MS analysis of protein-phosphotyrosine in multiple myeloma cells revealed a prevalent phosphorylated motif, D/EYYR/K, derived from the kinase domain activation loops of tyrosine kinases including FGFR3 corresponding to a recognition sequence of protein-tyrosine phosphatase PTPN1.", "output": {"entities": {"gene": [{"text": "PTPN1", "start": 274, "end": 279}], "disease": [{"text": "multiple myeloma", "start": 42, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "We characterized high-grade serous ovarian carcinoma (HGSC) for the association of amplified and overexpressed genes with clinical outcome using gene expression data from 499 HGSC patients in the Ovarian Tumor Tissue Analysis cohort for 11 copy number amplified genes: ATP13A4, BMP8B, CACNA1C, CCNE1, DYRK1B, GAB2, PAK4, RAD21, TPX2, ZFP36, and URI.", "output": {"entities": {"gene": [{"text": "BMP8B", "start": 278, "end": 283}], "disease": [{"text": "ovarian carcinoma", "start": 35, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "RhoE expression was elevated in gastric cancer tissues as compared with normal gastric tissues.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 0, "end": 4}], "disease": [{"text": "gastric cancer", "start": 32, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The endogenous opioid beta-endorphin is a known indicator of stress and pain.", "output": {"entities": {"gene": [{"text": "beta-endorphin", "start": 22, "end": 36}], "disease": [{"text": "pain", "start": 72, "end": 76}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "beta-endorphin", "start": 22, "end": 36}, "tail": {"text": "pain", "start": 72, "end": 76}}]}}, "schema": []}
{"input": "Our findings emphasize that congenital short bowel syndrome can be the presenting symptom in male patients with mutations in FLNA.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 125, "end": 129}], "disease": [{"text": "congenital short bowel syndrome", "start": 28, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLNA", "start": 125, "end": 129}, "tail": {"text": "congenital short bowel syndrome", "start": 28, "end": 59}}]}}, "schema": []}
{"input": "The results showed that malignant mesenchymal chondroblasts exhibit stronger expressions of CD99, IL-1alpha, cPKC-alpha, p-PKC-alpha/betaII, PDGFR-alpha, p-JNK, Ki-67, and bcl-2 antigens than their more mature-appearing chondrocytic counterparts in MC.", "output": {"entities": {"gene": [{"text": "CD99", "start": 92, "end": 96}], "disease": [{"text": "MC", "start": 249, "end": 251}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD99", "start": 92, "end": 96}, "tail": {"text": "MC", "start": 249, "end": 251}}]}}, "schema": []}
{"input": "CCSST is typified by a chromosomal t (12; 22) (q13; q12) translocation resulting in a fusion between the Ewing sarcoma gene (EWSR1) and activating transcription factor 1 (ATF1), of which the activity in nontransformed cells is regulated by cyclic AMP.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 125, "end": 130}], "disease": [{"text": "translocation", "start": 57, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We examined the complete structure of the EFHC1 transcript from 480 JME patients and 700 control chromosomes by direct sequencing.", "output": {"entities": {"gene": [{"text": "EFHC1", "start": 42, "end": 47}], "disease": [{"text": "JME", "start": 68, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EFHC1", "start": 42, "end": 47}, "tail": {"text": "JME", "start": 68, "end": 71}}]}}, "schema": []}
{"input": "Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.", "output": {"entities": {"gene": [{"text": "growth hormone receptor", "start": 163, "end": 186}], "disease": [{"text": "Laron syndrome", "start": 70, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "growth hormone receptor", "start": 163, "end": 186}, "tail": {"text": "Laron syndrome", "start": 70, "end": 84}}]}}, "schema": []}
{"input": "Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.", "output": {"entities": {"gene": [{"text": "acid cholesteryl ester hydrolase", "start": 27, "end": 59}], "disease": [{"text": "Wolman disease", "start": 74, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid cholesteryl ester hydrolase", "start": 27, "end": 59}, "tail": {"text": "Wolman disease", "start": 74, "end": 88}}]}}, "schema": []}
{"input": "The common genes up-regulated by Y15 included GADD45A, HSPA6 (heat-shock 70); DUSP1, DUSP 5 (dual-phosphatase 5); CDKN1A (p21) and common down-regulated genes included kinesins, such as KIF11, 14, 20A, 20B; topoisomerase II, TOP2A; cyclin F; cell cycle protein: BUB1; PARP1, POLA1.", "output": {"entities": {"gene": [{"text": "KIF11", "start": 186, "end": 191}], "disease": [{"text": "shock", "start": 67, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We previously demonstrated that midkine-deficient (Mdk (-/-)) mice exhibited a delayed hippocampal development with impaired working memory and increased anxiety only at the age of 4 weeks.", "output": {"entities": {"gene": [{"text": "midkine", "start": 32, "end": 39}], "disease": [{"text": "anxiety", "start": 154, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "midkine", "start": 32, "end": 39}, "tail": {"text": "anxiety", "start": 154, "end": 161}}]}}, "schema": []}
{"input": "In addition, TASK-2 immunoreactivity is gradually increased in perivascular regions following SE.", "output": {"entities": {"gene": [{"text": "TASK-2", "start": 13, "end": 19}], "disease": [{"text": "SE", "start": 94, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TASK-2", "start": 13, "end": 19}, "tail": {"text": "SE", "start": 94, "end": 96}}]}}, "schema": []}
{"input": "Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.", "output": {"entities": {"gene": [{"text": "ribosomal protein L21", "start": 12, "end": 33}], "disease": [{"text": "hereditary hypotrichosis simplex", "start": 44, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ribosomal protein L21", "start": 12, "end": 33}, "tail": {"text": "hereditary hypotrichosis simplex", "start": 44, "end": 76}}]}}, "schema": []}
{"input": "In the present study, the expression of TFF1 was analysed in 18 human MTCs, comprising sporadic and familial tumours, C-cell hyperplasia, and one case of lymph gland metastasis.", "output": {"entities": {"gene": [{"text": "TFF1", "start": 40, "end": 44}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Sp1 expression is disrupted in schizophrenia; a possible mechanism for the abnormal expression of mitochondrial complex I genes, NDUFV1 and NDUFV2.", "output": {"entities": {"gene": [{"text": "NDUFV1", "start": 129, "end": 135}], "disease": [{"text": "schizophrenia", "start": 31, "end": 44}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NDUFV1", "start": 129, "end": 135}, "tail": {"text": "schizophrenia", "start": 31, "end": 44}}]}}, "schema": []}
{"input": "Results from this preliminary study suggest that the expression of ApoER2 may serve as a trait marker for major depressive disorder.", "output": {"entities": {"gene": [{"text": "ApoER2", "start": 67, "end": 73}], "disease": [{"text": "major depressive disorder", "start": 106, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ApoER2", "start": 67, "end": 73}, "tail": {"text": "major depressive disorder", "start": 106, "end": 131}}]}}, "schema": []}
{"input": "Absence of CYP1A2 resulted in significant splenic atrophy at PND13 and PND28.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 11, "end": 17}], "disease": [{"text": "atrophy", "start": 50, "end": 57}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A2", "start": 11, "end": 17}, "tail": {"text": "atrophy", "start": 50, "end": 57}}]}}, "schema": []}
{"input": "The activation of K-ras gene and expression of annexin A1 play an important role in colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "annexin A1", "start": 47, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "This study examined the association between the number of circulating endothelial progenitor cells (EPCs), intratumoral microvessel density (MVD) (both of which may be markers for neovascularization), and lung cancer histological types, particularly adenocarcinoma histological subtypes.", "output": {"entities": {"gene": [{"text": "MVD", "start": 141, "end": 144}], "disease": [{"text": "lung cancer", "start": 205, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "As a mutation hotspot, the c. 713A & gt; G/714T & gt; C dinucleotide substitution was found among 89. 1% patients with GAS8-AS1 mutations and associated with advanced PTC disease (P = 0. 009).", "output": {"entities": {"gene": [{"text": "GAS8-AS1", "start": 119, "end": 127}], "disease": [{"text": "PTC", "start": 167, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GAS8-AS1", "start": 119, "end": 127}, "tail": {"text": "PTC", "start": 167, "end": 170}}]}}, "schema": []}
{"input": "Protein expression profiles of the CXC chemokines growth-related oncogene alpha (GRO-alpha/CXCL1), epithelial cell-derived neutrophil-activating peptide-78 (ENA-78/CXCL5), granulocyte chemoattractant protein-2 (GCP-2/CXCL6), neutrophil-activating protein-2 (NAP-2/CXCL7), and interleukin-8 (IL-8/CXCL8) were assessed by enzyme-linked immunosorbent assay in pancreatic carcinoma, cancer of the papilla of Vater, pancreatic cystadenoma, and chronic pancreatitis specimens.", "output": {"entities": {"gene": [{"text": "CXCL8", "start": 296, "end": 301}], "disease": [{"text": "pancreatic cystadenoma", "start": 411, "end": 433}]}, "relations": {}}, "schema": []}
{"input": "Increased expression of seprase, a membrane-type serine protease, is associated with lymph node metastasis in human colorectal cancer.", "output": {"entities": {"gene": [{"text": "seprase", "start": 24, "end": 31}], "disease": [{"text": "lymph node metastasis", "start": 85, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "EGR3", "start": 142, "end": 146}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGR3", "start": 142, "end": 146}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "We examined associations between common germline genetic variation in 13 genes involved in cell cycle control (CCND1, CCND2, CCND3, CCNE1, CDK2 [p33], CDK4, CDK6, CDKN1A [p21, Cip1], CDKN1B [p27, Kip1], CDKN2A [p16], CDKN2B [p15], CDKN2C [p18], and CDKN2D [p19]) and survival among women diagnosed with invasive breast cancer participating in the SEARCH (Studies of Epidemiology and Risk factors in Cancer Heredity) breast cancer study.", "output": {"entities": {"gene": [{"text": "p33", "start": 145, "end": 148}], "disease": [{"text": "invasive breast cancer", "start": 303, "end": 325}]}, "relations": {}}, "schema": []}
{"input": "Over 70 different missense mutations, including a dominant mutation, in RPE65 retinoid isomerase are associated with distinct forms of retinal degeneration; however, the disease mechanisms for most of these mutations have not been studied.", "output": {"entities": {"gene": [{"text": "RPE65", "start": 72, "end": 77}], "disease": [{"text": "retinal degeneration", "start": 135, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPE65", "start": 72, "end": 77}, "tail": {"text": "retinal degeneration", "start": 135, "end": 155}}]}}, "schema": []}
{"input": "Susceptibility to hard metal lung disease is strongly associated with the presence of glutamate 69 in HLA-DP beta chain.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 102, "end": 108}], "disease": [{"text": "lung disease", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We assessed its frequency of expression in melanoma, carcinoma, benign nevi, and non-neoplastic tissues with routine immunohistochemistry for SOX10.", "output": {"entities": {"gene": [{"text": "SOX10", "start": 142, "end": 147}], "disease": [{"text": "nevi", "start": 71, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Because the influence of genetic variation of HGF has not been examined, we identified single nucleotide polymorphisms (SNPs) in the HGF gene, and investigated the association between these SNPs and blood pressure or carotid atherosclerosis in the Japanese general population.", "output": {"entities": {"gene": [{"text": "HGF gene", "start": 133, "end": 141}], "disease": [{"text": "blood pressure", "start": 199, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "Our study provides evidence for a pro-survival function of the ID2/ID3 proteins in chronic lymphocytic leukemia cells and also highlights these proteins as potential determinants of the pathobiology of this disorder.", "output": {"entities": {"gene": [{"text": "ID3", "start": 67, "end": 70}], "disease": [{"text": "chronic lymphocytic leukemia", "start": 83, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Combination of TetON-TRAIL and KD3-IFN produced superior antitumor activity in vivo as compared with either vector alone demonstrating the efficacy of a four-pronged cancer gene therapy approach, which includes Ad oncolysis, ADP overexpression, IFN-alpha-mediated immunotherapy, and pharmacologically controlled TRAIL activity.", "output": {"entities": {"gene": [{"text": "ADP", "start": 225, "end": 228}], "disease": [{"text": "oncolysis", "start": 214, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 46, "end": 51}], "disease": [{"text": "SFD", "start": 84, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TIMP3", "start": 46, "end": 51}, "tail": {"text": "SFD", "start": 84, "end": 87}}]}}, "schema": []}
{"input": "Loss of heterozygosity (LOH) of the p53 (17p) and BRCA1 (17q) tumor suppressor genes has been frequently identified in sporadic ovarian carcinomas.", "output": {"entities": {"gene": [{"text": "p53", "start": 36, "end": 39}], "disease": [{"text": "sporadic", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity.", "output": {"entities": {"gene": [{"text": "GLUT10", "start": 0, "end": 6}], "disease": [{"text": "arterial tortuosity", "start": 185, "end": 204}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLUT10", "start": 0, "end": 6}, "tail": {"text": "arterial tortuosity", "start": 185, "end": 204}}]}}, "schema": []}
{"input": "Moreover, prkar1a (+/-) mice exhibited a marked propensity for extracardiac tumorigenesis.", "output": {"entities": {"gene": [{"text": "prkar1a", "start": 10, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, the Palb activity was increased at the time of recurrence of proteinuria following transplantation (Palb 0. 73 +/-0. 10) and remained elevated when retested more than 3 years later (Palb 0. 54 +/-0. 09).", "output": {"entities": {"gene": [{"text": "Palb", "start": 19, "end": 23}], "disease": [{"text": "proteinuria", "start": 76, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, molecular profiling of mesenchymal chondrosarcoma using a proteomic approach characterized the mesenchymal chondroblasts as possessing pathways that incorporate PKC-alpha and PDGFR-alpha signaling and anti-apoptotic bcl-2 expression.", "output": {"entities": {"gene": [{"text": "bcl-2", "start": 231, "end": 236}], "disease": [{"text": "mesenchymal chondrosarcoma", "start": 38, "end": 64}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bcl-2", "start": 231, "end": 236}, "tail": {"text": "mesenchymal chondrosarcoma", "start": 38, "end": 64}}]}}, "schema": []}
{"input": "Herein, we evaluated whether genetic variants of HLA-DP and HLA-DQ are associated with cervical cancer risk.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 49, "end": 55}], "disease": [{"text": "cervical cancer", "start": 87, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We found that protein and gene expressions of alpha6 and beta4 subunits were strongly reduced in the androgen-sensitive cell line LNCaP respect to the androgen-independent PC3 and that transfection of PC3 cells with a full-length androgen receptor expression vector resulted in a decreased expression of alpha6beta4 integrin, reduced adhesion on laminin, and suppressed Matrigel invasion.", "output": {"entities": {"gene": [{"text": "androgen receptor", "start": 230, "end": 247}], "disease": [{"text": "adhesion", "start": 334, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "Thus, the regulation via Sp1 represents a further control point for GluR2 expression in glioma cells.", "output": {"entities": {"gene": [{"text": "GluR2", "start": 68, "end": 73}], "disease": [{"text": "glioma", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Farber disease (MIM 228000) is a rare autosomal recessive condition caused by deficiency of lysosomal acid ceramidase (EC 3. 5. 1. 23).", "output": {"entities": {"gene": [{"text": "acid ceramidase", "start": 102, "end": 117}], "disease": [{"text": "Farber disease", "start": 0, "end": 14}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid ceramidase", "start": 102, "end": 117}, "tail": {"text": "Farber disease", "start": 0, "end": 14}}]}}, "schema": []}
{"input": "Identification of a novel estrogen-regulated gene, EIG121, induced by hormone replacement therapy and differentially expressed in type I and type II endometrial cancer.", "output": {"entities": {"gene": [{"text": "estrogen-regulated gene", "start": 26, "end": 49}], "disease": [{"text": "endometrial cancer", "start": 149, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The functional polymorphism Asn (107) Ile (rs324981, A > T) of the neuropeptide S receptor (NPSR1) gene is involved in the modulation of traits that affect alcohol use.", "output": {"entities": {"gene": [{"text": "NPSR1", "start": 92, "end": 97}], "disease": [{"text": "alcohol use", "start": 156, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "By using electron microscopy we also demonstrated production of HBD-2 after M. tuberculosis infection and adherence of HBD-2 to the membranes of M. tuberculosis.", "output": {"entities": {"gene": [{"text": "HBD-2", "start": 64, "end": 69}], "disease": [{"text": "tuberculosis infection", "start": 79, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "AIM: This study is aimed to observe the frequency and nature of mutations in exons 5-8 of p53 gene and to evaluate its correlation with prevalence of serum p53 antibodies in Indian patients with gallbladder cancer (GBC).", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "gallbladder cancer", "start": 195, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "We studied EBP1, an ErbB3 binding protein, and the effects of p48 and p42 isoforms on the MHC II expression in U87 glioblastoma, M14 melanoma and MCF7 mammary carcinoma cell lines.", "output": {"entities": {"gene": [{"text": "EBP1", "start": 11, "end": 15}], "disease": [{"text": "melanoma", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "A multiple regression with stepwise selection identified elevated BMI, Caucasian and Native Hawaiian versus Japanese race/ethnicity, and current smoking as being associated with significantly higher serum CRP and IL-6 levels.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 213, "end": 217}], "disease": [{"text": "smoking", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "This mechanism provides a biological explanation for why SHBG is a sensitive biomarker of insulin resistance and the metabolic syndrome, and why low plasma SHBG levels are a risk factor for developing hyperglycemia and type 2 diabetes, especially in women.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 57, "end": 61}], "disease": [{"text": "insulin resistance", "start": 90, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the conventional osteosarcoma with cytoplasmic IGF and IMP3 showed more MVD than parosteal and periosteal osteosarcoma with cytoplasmic IGF and IMP3, and the difference was significant (P = 0. 035).", "output": {"entities": {"gene": [{"text": "MVD", "start": 82, "end": 85}], "disease": [{"text": "conventional osteosarcoma", "start": 14, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "To date, the TRIF-deficient patients with HSE described herein have suffered from no other infections.", "output": {"entities": {"gene": [{"text": "TRIF", "start": 13, "end": 17}], "disease": [{"text": "infections", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Recent investigations demonstrate moonlighting roles for the proteins epimorphin, FGF1, FGF2, PLK1 and Ku80, to name a few, during oncogenesis and inflammation.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 88, "end": 92}], "disease": [{"text": "inflammation", "start": 147, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism.", "output": {"entities": {"gene": [{"text": "ALADIN", "start": 62, "end": 68}], "disease": [{"text": "Triple A syndrome", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALADIN", "start": 62, "end": 68}, "tail": {"text": "Triple A syndrome", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "Indeed, this feature characterized both familial and sporadic tumours displaying BRCA1-or BRCA2-like spectrums of genomic alterations.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 90, "end": 95}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "K-ras and p53 gene mutations are known to occur in high frequencies in sporadic colorectal cancers, but findings are inconsistent in hereditary nonpolyposis colorectal cancer (HNPCC).", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 10, "end": 18}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 118, "end": 122}], "disease": [{"text": "Cowden disease", "start": 25, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 118, "end": 122}, "tail": {"text": "Cowden disease", "start": 25, "end": 39}}]}}, "schema": []}
{"input": "In the lung, lack of Nrf2 exacerbated toxicity caused by multiple oxidative insults including supplemental respiratory therapy (e. g., hyperoxia, mechanical ventilation), cigarette smoke, allergen, virus, bacterial endotoxin and other inflammatory agents (e. g., carrageenin), environmental pollution (e. g., particles), and a fibrotic agent bleomycin.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 21, "end": 25}], "disease": [{"text": "hyperoxia", "start": 135, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Among the HCV-seropositive patients, viral load inversely correlated with the Th1 effector cell response to NS3.", "output": {"entities": {"gene": [{"text": "Th1", "start": 78, "end": 81}], "disease": [{"text": "viral load", "start": 37, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Linkage to chromosome 3p22-p24 has been found in both families, with no evidence of linkage to loci for known HSN I, autosomal dominant hereditary motor and sensory neuropathy, hereditary GOR or triple A syndrome.", "output": {"entities": {"gene": [{"text": "GOR", "start": 188, "end": 191}], "disease": [{"text": "hereditary motor and sensory neuropathy", "start": 136, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X-linked dominant trait with lethality for male embryos.", "output": {"entities": {"gene": [{"text": "MIM", "start": 20, "end": 23}], "disease": [{"text": "nevus", "start": 92, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Unlike KS1, developmental delay and learning disability are generally moderate-severe in boys but mild-moderate in girls with KS2.", "output": {"entities": {"gene": [{"text": "KS1", "start": 7, "end": 10}], "disease": [{"text": "mild", "start": 98, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We suggest that neutrophilia during tuberculosis indicates failed Th1 immunity or loss of IFN-γ responsiveness.", "output": {"entities": {"gene": [{"text": "IFN", "start": 90, "end": 93}], "disease": [{"text": "neutrophilia", "start": 16, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Among the three ACE I/D variants, the DD genotype was associated with the highest value of the mean systolic blood pressure [SBP] and mean diastolic blood pressure [DBP] (p = < 0. 05) in men, but not in women.", "output": {"entities": {"gene": [{"text": "DBP", "start": 165, "end": 168}], "disease": [{"text": "systolic blood pressure", "start": 100, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Here, we report that both Six1 and Eya1 are strongly expressed in the peri-cloacal mesenchyme (PCM) surrounding the cloaca, the terminal end of hindgut dilation.", "output": {"entities": {"gene": [{"text": "Six1", "start": 26, "end": 30}], "disease": [{"text": "dilation", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "This study evaluated whether EMT of BECs has a role in hepatolithiasis-induced biliary fibrosis and types of BECs that are involved.", "output": {"entities": {"gene": [{"text": "EMT", "start": 29, "end": 32}], "disease": [{"text": "hepatolithiasis", "start": 55, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations.", "output": {"entities": {"gene": [{"text": "dystrophin", "start": 99, "end": 109}], "disease": [{"text": "XLCM", "start": 78, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dystrophin", "start": 99, "end": 109}, "tail": {"text": "XLCM", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "Global protein O-GlcNAcylation and the main enzymes regulating O-GlcNAc, O-GlcNAc transferase (OGT), O-GlcNAcase (OGA), and glutamine-fructose-6-phosphate amidotransferase (GFAT) were measured by immunoblot and/or real-time RT-PCR analyses of left ventricular tissue from aortic stenosis (AS) patients and rat models of hypertension, myocardial infarction (MI), and aortic banding (AB), with and without failure.", "output": {"entities": {"gene": [{"text": "GFAT", "start": 173, "end": 177}], "disease": [{"text": "aortic stenosis", "start": 272, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "U251-HRE-mCherry cells expressing Luciferase under the control of a hypoxia responsive element (HRE) and mCherry under the control of a constitutive promoter were used to assess HIF-1α activity and cell survival after treatment, both in vitro and in vivo, by optical, MRI and positron emission tomography imaging.", "output": {"entities": {"gene": [{"text": "MRI", "start": 268, "end": 271}], "disease": [{"text": "hypoxia", "start": 68, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "STAT-3 is active during the regenerative growth of the liver, but there are hardly any data about its presence in liver tumours.", "output": {"entities": {"gene": [{"text": "STAT-3", "start": 0, "end": 6}], "disease": [{"text": "liver tumours", "start": 114, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STAT-3", "start": 0, "end": 6}, "tail": {"text": "liver tumours", "start": 114, "end": 127}}]}}, "schema": []}
{"input": "These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene.", "output": {"entities": {"gene": [{"text": "GDF5", "start": 161, "end": 165}], "disease": [{"text": "multiple-synostosis syndrome", "start": 44, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF5", "start": 161, "end": 165}, "tail": {"text": "multiple-synostosis syndrome", "start": 44, "end": 72}}]}}, "schema": []}
{"input": "The SCZ (schizophrenia)-associated GABA (A) receptor (gamma-aminobutyric acid type A receptor) beta (2) subunit gene GABRB2 was recently associated with BPD (bipolar disorder).", "output": {"entities": {"gene": [{"text": "GABA (A) receptor (gamma-aminobutyric acid type A receptor) beta (2) subunit", "start": 35, "end": 111}], "disease": [{"text": "bipolar disorder", "start": 158, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABA (A) receptor (gamma-aminobutyric acid type A receptor) beta (2) subunit", "start": 35, "end": 111}, "tail": {"text": "bipolar disorder", "start": 158, "end": 174}}]}}, "schema": []}
{"input": "The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.", "output": {"entities": {"gene": [{"text": "gigaxonin", "start": 89, "end": 98}], "disease": [{"text": "GAN", "start": 55, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gigaxonin", "start": 89, "end": 98}, "tail": {"text": "GAN", "start": 55, "end": 58}}]}}, "schema": []}
{"input": "These results suggested that HLA-DR3 and CTLA-4 conferred a general increased risk for GD in both the sporadic and familial forms, and that the risk conferred by them was additive.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 41, "end": 47}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "BRCA2-associated breast carcinomas tend to be of higher grade than sporadic age-matched controls.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Together, these data indicate that under hypoxic conditions the CD40-CD40L interaction significantly influences adhesion molecule expression, stress generation, actin polymerization, and monocytic adhesion to endothelial cells in addition to changes in signaling.", "output": {"entities": {"gene": [{"text": "CD40", "start": 64, "end": 68}], "disease": [{"text": "hypoxic", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.", "output": {"entities": {"gene": [{"text": "EHMT1", "start": 117, "end": 122}], "disease": [{"text": "9q subtelomeric deletion syndrome", "start": 50, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EHMT1", "start": 117, "end": 122}, "tail": {"text": "9q subtelomeric deletion syndrome", "start": 50, "end": 83}}]}}, "schema": []}
{"input": "The 10q23. 3 gene PTEN (phosphatase and Tensin homologue deleted on chromosome 10) or MMAC1 (mutated in multiple advanced cancers 1) was recently reported to undergo frequent mutation, including mutations and deletions in multiple advanced cancers.", "output": {"entities": {"gene": [{"text": "Tensin", "start": 40, "end": 46}], "disease": [{"text": "cancers", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The controls included cases of BRCA2-associated breast cancer and sporadic cases.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 31, "end": 36}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "SMARCAL1 is phosphorylated in a caffeine-sensitive manner in response to double-stranded breaks and stalled replication forks.", "output": {"entities": {"gene": [{"text": "SMARCAL1", "start": 0, "end": 8}], "disease": [{"text": "caffeine", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are independent genetic events.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 29, "end": 34}], "disease": [{"text": "translocation", "start": 35, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "We conclude that the incidence of carrying PINK1 mutations in the present cohort of Taiwanese EOPD patients was low, accounting for 2/39 (5. 1%) in familial cases, and 2/99 (2%) in sporadic cases.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 43, "end": 48}], "disease": [{"text": "sporadic", "start": 181, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Imaging of intratumoral inflammation during oncolytic virotherapy of tumors by 19F-magnetic resonance imaging (MRI).", "output": {"entities": {"gene": [{"text": "MRI", "start": 111, "end": 114}], "disease": [{"text": "inflammation", "start": 24, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "HDAC2 and TXNL1 distinguish aneuploid from diploid colorectal cancers.", "output": {"entities": {"gene": [{"text": "TXNL1", "start": 10, "end": 15}], "disease": [{"text": "aneuploid", "start": 28, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Substantial levels of RANKL were found to be expressed on leukemia cells in 53 of 78 (68%) investigated patients.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 22, "end": 27}], "disease": [{"text": "leukemia", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "To the best of our knowledge, the present study was the first to investigate the role of GPR137 in gastric tumorigenesis and revealed that knockdown of GPR137 by lentivirus‑mediated shRNA transfection inhibited the growth of gastric cancer cells in vitro.", "output": {"entities": {"gene": [{"text": "GPR137", "start": 89, "end": 95}], "disease": [{"text": "tumorigenesis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Expression of RAGE and HMGB1 in thymic epithelial tumors, thymic hyperplasia and regular thymic morphology.", "output": {"entities": {"gene": [{"text": "RAGE", "start": 14, "end": 18}], "disease": [{"text": "hyperplasia", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Among patients with chronic liver disease, TTV DNA occurred in those with liver cirrhosis and hepatocellular carcinoma more frequently than in those with chronic hepatitis (35 of 65 or 54% vs. 20 of 62 or 32%, P < 0. 05).", "output": {"entities": {"gene": [{"text": "TTV", "start": 43, "end": 46}], "disease": [{"text": "chronic hepatitis", "start": 154, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "HRF-overexpressing cells exhibited high implantation efficiency in comparison to control cells when the cells were injected into the peritoneal cavities of nude mice.", "output": {"entities": {"gene": [{"text": "HRF", "start": 0, "end": 3}], "disease": [{"text": "cavities", "start": 144, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Chronic schizophrenia is associated with over-expression of the interleukin-2 receptor gamma gene.", "output": {"entities": {"gene": [{"text": "interleukin-2 receptor gamma", "start": 64, "end": 92}], "disease": [{"text": "Chronic schizophrenia", "start": 0, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-2 receptor gamma", "start": 64, "end": 92}, "tail": {"text": "Chronic schizophrenia", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "Three-way translocation involves MLL, MLLT3, and a novel cell cycle control gene, FLJ10374, in the pathogenesis of acute myeloid leukemia with t (9; 11; 19) (p22; q23; p13. 3).", "output": {"entities": {"gene": [{"text": "FLJ10374", "start": 82, "end": 90}], "disease": [{"text": "translocation", "start": 10, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Neither 5 patients with late-onset FAD nor 27 patients with sporadic AD had the mutation.", "output": {"entities": {"gene": [{"text": "FAD", "start": 35, "end": 38}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Antibody-based assays for hCE1 and AFP were used to test both biomarkers with respect to diagnostic efficiency, Youden' s index and the area under the curve (AUC) through receiver operating characteristic (ROC) analysis in plasma from 208 patients with HCC (n = 57), liver cirrhosis (n = 27), chronic hepatitis (n = 37), cholangiocarcinoma (n = 22), gastric cancer (n = 31) and pancreatic cancer (n = 34), along with 52 healthy donors (HDs).", "output": {"entities": {"gene": [{"text": "HCC", "start": 253, "end": 256}], "disease": [{"text": "chronic hepatitis", "start": 293, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "Notably, MGF expression was remarkably higher in PCa and prostatic intraepithelial neoplasia (PIN) than normal prostate tissues, while the normal prostate epithelial cells (HPrEC) did not express MGF.", "output": {"entities": {"gene": [{"text": "MGF", "start": 9, "end": 12}], "disease": [{"text": "prostatic intraepithelial neoplasia", "start": 57, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma which is characterized by the presence of a specific chromosomal translocation encoding the chimeric transcription factor (ASPL-TFE3) that activates expression of MET.", "output": {"entities": {"gene": [{"text": "MET", "start": 227, "end": 230}], "disease": [{"text": "chromosomal translocation", "start": 117, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Forty-two children, mean age 6. 4 years (range 9 months to 15 years), received an allogeneic BMT for: acute lymphoblastic leukaemia (ALL), n = 17; acute myeloid leukaemia (AML), n = 5; biphenotypic leukaemia, n = 1; myelodysplastic syndrome (MDS), n = 5; chronic granulocytic leukaemia (CGL), n = 1; severe aplastic anaemia (SAA), n = 7; familial erythrophagocytic lymphohistiocytosis (FEL), n = 2; beta thalassaemia major (beta thal), n = 1; and juvenile chronic myeloid leukaemia (JCML), n = 3.", "output": {"entities": {"gene": [{"text": "SAA", "start": 325, "end": 328}], "disease": [{"text": "aplastic anaemia", "start": 307, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "The transcription factor SP4 is reduced in postmortem cerebellum of bipolar disorder subjects: control by depolarization and lithium.", "output": {"entities": {"gene": [{"text": "transcription factor SP4", "start": 4, "end": 28}], "disease": [{"text": "bipolar disorder", "start": 68, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transcription factor SP4", "start": 4, "end": 28}, "tail": {"text": "bipolar disorder", "start": 68, "end": 84}}]}}, "schema": []}
{"input": "The IL6 polymorphism was also associated with cardiovascular disease in heterozygous individuals (P = 0. 044), and was found to have a significant interaction with smoking (P = 0. 024).", "output": {"entities": {"gene": [{"text": "IL6", "start": 4, "end": 7}], "disease": [{"text": "smoking", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In the most common primary brain tumors, malignant glioma cells invade the extracellular matrix (ECM) and proliferate rapidly in the cerebral tissue, which is mainly composed of hyaluronan (HA) along with the elastin present in the basement membrane of blood vessels.", "output": {"entities": {"gene": [{"text": "ECM", "start": 97, "end": 100}], "disease": [{"text": "primary brain tumors", "start": 19, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have reported that 60% of sporadic schwannomas showed inactivation of the NF2 gene, but genetic alterations of remaining 40% tumors remain elusive.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 91, "end": 99}], "disease": [{"text": "sporadic", "start": 43, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Each subject underwent an evaluation of body mass index (BMI), hirsutism, acne and menstrual cycle abnormalities as well as follicular stimulating hormone (FSH), luteinizing hormone (LH), total and free testosterone, androstendione, dehydroepiandrosterone sulphate (DHEAS), sex hormone binding globulin (SHBG), fasting glucose and fasting insulin.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 304, "end": 308}], "disease": [{"text": "body mass index", "start": 40, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "These studies demonstrate that IGF peptides regulate CM concentrations of IGFBP-3 through non-receptor mediated dissociation of cell surface-associated IGFBP-3.", "output": {"entities": {"gene": [{"text": "IGF", "start": 31, "end": 34}], "disease": [{"text": "dissociation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The tumor cannot be completely eradicated only with ZD55-MnSOD, although ZD55-MnSOD has obvious antitumor activity.", "output": {"entities": {"gene": [{"text": "MnSOD", "start": 57, "end": 62}], "disease": [{"text": "tumor", "start": 4, "end": 9}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MnSOD", "start": 57, "end": 62}, "tail": {"text": "tumor", "start": 4, "end": 9}}]}}, "schema": []}
{"input": "TNF-alpha-308 * 2 allele frequency was not significantly different between the population control subjects and the smoking-related COPD patients (4. 7% vs. 7. 9%, P = 0. 14).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 0, "end": 9}], "disease": [{"text": "smoking", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "NO synthesis increases, and MDA production decreases through ERβ-mediated pathway that suppresses apoptosis and NF-κB activity in endothelial cells that downregulates adhesion molecules expression on endothelial cells via ERβ/NO/NF-κB pathway, and in turn leukocyte adhesion, which suggests BSNXD potential value in prophylaxis atherosclerosis.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 112, "end": 117}], "disease": [{"text": "adhesion", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The mutation was heteroplasmic and abundantly present in COX-negative fibers, but less abundant or absent in COX-positive fibers; it was not found in blood or fibroblasts from the patient or in blood samples from the patient' s asymptomatic mother and sister.", "output": {"entities": {"gene": [{"text": "COX", "start": 57, "end": 60}], "disease": [{"text": "asymptomatic", "start": 228, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Netrin-4, a laminin-related secreted protein is an axon guidance cue recently shown essential outside of the nervous system, regulating mammary and lung morphogenesis as well as blood vascular development.", "output": {"entities": {"gene": [{"text": "Netrin-4", "start": 0, "end": 8}], "disease": [{"text": "nervous system", "start": 109, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "DEC1 [basic helix-loop-helix (BHLH) E40/Stra13/Sharp2] and DEC2 (BHLHE41/Sharp1) are BHLH transcription factors that are associated with the regulation of apoptosis, cell proliferation, and circadian rhythms, as well as malignancy in various cancers.", "output": {"entities": {"gene": [{"text": "Sharp1", "start": 73, "end": 79}], "disease": [{"text": "circadian rhythms", "start": 190, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "At a 90% specificity, the respective best single marker found the following fraction of all patients who had tumor progression clinically detected: in SCLC with NSE 52%, in adenocarcinoma with CYFRA 21-1 89% and in squamous carcinoma with SCC 65%.", "output": {"entities": {"gene": [{"text": "NSE", "start": 161, "end": 164}], "disease": [{"text": "tumor progression", "start": 109, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Six unrelated Japanese families with FJHN were examined for mutations of the UMOD gene by direct sequencing.", "output": {"entities": {"gene": [{"text": "UMOD", "start": 77, "end": 81}], "disease": [{"text": "FJHN", "start": 37, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UMOD", "start": 77, "end": 81}, "tail": {"text": "FJHN", "start": 37, "end": 41}}]}}, "schema": []}
{"input": "All three biomarkers exhibited sexual dimorphisms (levels higher in women for fetuin-A and FABP4 but greater in men for RBP4) and were associated positively with insulin resistance assessed using the homeostasis model, with high-sensitivity C-reactive protein, and with prevalent MetSyn (P < 0. 01 for all).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 241, "end": 259}], "disease": [{"text": "insulin resistance", "start": 162, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In-vitro investigation of the PKD1-β-catenin interaction in colon cancer cells reveal that PKD1 overexpression suppresses cell proliferation and clonogenic potential and enhances cell-cell aggregation.", "output": {"entities": {"gene": [{"text": "PKD1", "start": 30, "end": 34}], "disease": [{"text": "colon cancer", "start": 60, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Functional tests on B cells harboring the newly identified amino acid substitutions indicate that they alter intracellular Ca2 + homeostasis and are most likely causative of malignant hyperthermia.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 123, "end": 126}], "disease": [{"text": "malignant hyperthermia", "start": 174, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Circulating immune complexes (IC) and IC-induced levels of GM-CSF are increased in sudanese patients with acute visceral Leishmania donovani infection undergoing sodium stibogluconate treatment: implications for disease pathogenesis.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 59, "end": 65}], "disease": [{"text": "Leishmania donovani infection", "start": 121, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GM-CSF", "start": 59, "end": 65}, "tail": {"text": "Leishmania donovani infection", "start": 121, "end": 150}}]}}, "schema": []}
{"input": "Mechanistically, WSB1 promotes pVHL ubiquitination and proteasomal degradation, thereby stabilizing HIF under both normoxic and hypoxic conditions.", "output": {"entities": {"gene": [{"text": "WSB1", "start": 17, "end": 21}], "disease": [{"text": "hypoxic", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis.", "output": {"entities": {"gene": [{"text": "SURF1", "start": 37, "end": 42}], "disease": [{"text": "LS", "start": 57, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SURF1", "start": 37, "end": 42}, "tail": {"text": "LS", "start": 57, "end": 59}}]}}, "schema": []}
{"input": "The expression level of miRNA-134 (miR-134), a member of the DLK1-DIO3 genomic imprinted miRNA cluster, differed significantly between HuECSCs and human endometrial cancer cells (HuECCs).", "output": {"entities": {"gene": [{"text": "DIO3", "start": 66, "end": 70}], "disease": [{"text": "endometrial cancer", "start": 153, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.", "output": {"entities": {"gene": [{"text": "LRAT", "start": 50, "end": 54}], "disease": [{"text": "leber congenital amaurosis", "start": 67, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRAT", "start": 50, "end": 54}, "tail": {"text": "leber congenital amaurosis", "start": 67, "end": 93}}]}}, "schema": []}
{"input": "SARM knockdown in resveratrol-treated mice enhanced gamma interferon production, RSV-induced airway inflammation, and airway hyperresponsiveness (AHR).", "output": {"entities": {"gene": [{"text": "SARM", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "At 8-72 hr after ischemia, CAD/DFF40 mRNA and protein were induced in the degenerating hippocampal CA1 neurons.", "output": {"entities": {"gene": [{"text": "CA1", "start": 99, "end": 102}], "disease": [{"text": "ischemia", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "Tumors with moderate HER2 (HER2 2 +) expression demonstrated an aggressive behavior and worse patient survival compared with HER2 0 and 1 + status.", "output": {"entities": {"gene": [{"text": "HER2", "start": 21, "end": 25}], "disease": [{"text": "aggressive behavior", "start": 64, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Despite the lack of activating mutations in the BRAF gene, we identified constitutively activated ERK in almost all (86%) uveal melanoma tissues tested but not in corresponding normal retina or uveal cells.", "output": {"entities": {"gene": [{"text": "ERK", "start": 98, "end": 101}], "disease": [{"text": "uveal melanoma", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).", "output": {"entities": {"gene": [{"text": "3-hydroxyacyl-CoA dehydrogenase", "start": 156, "end": 187}], "disease": [{"text": "carnitine-acylcarnitine translocase deficiency", "start": 23, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "GRIK2", "start": 40, "end": 45}], "disease": [{"text": "ovarian cancer", "start": 182, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIK2", "start": 40, "end": 45}, "tail": {"text": "ovarian cancer", "start": 182, "end": 196}}]}}, "schema": []}
{"input": "We, therefore, studied the relationship between ACE gene I/D polymorphism and diabetic albuminuria and glomerular filtration rate (GFR) in 83 NIDDM patients followed up for 9 years.", "output": {"entities": {"gene": [{"text": "GFR", "start": 131, "end": 134}], "disease": [{"text": "albuminuria", "start": 87, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Giant axonal neuropathy is usually caused by mutations in the gigaxonin gene (GAN) but genetic heterogeneity has been demonstrated for a milder variant of this disease.", "output": {"entities": {"gene": [{"text": "gigaxonin", "start": 62, "end": 71}], "disease": [{"text": "Giant axonal neuropathy", "start": 0, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "gigaxonin", "start": 62, "end": 71}, "tail": {"text": "Giant axonal neuropathy", "start": 0, "end": 23}}]}}, "schema": []}
{"input": "Interestingly, inhibition of ET-1 in the senescent P30 fibroblasts by 2 different strategies (the use of siRNA and the use of endothelin converting enzyme inhibitors) markedly suppressed expression of fibrosis signals.", "output": {"entities": {"gene": [{"text": "P30", "start": 51, "end": 54}], "disease": [{"text": "fibrosis", "start": 201, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "We investigated the mRNA expression of OLIG1 and OLIG2, as well as four other genes involved in oligodendrocyte development (E2A, HEB, NKX2. 2, and PDGFRA) in a panel of 70 gliomas, including 9 oligodendrogliomas, 11 anaplastic oligodendrogliomas, 5 oligoastrocytomas, 10 anaplastic oligoastrocytomas, 10 diffuse astrocytomas, 10 anaplastic astrocytomas, and 15 glioblastomas.", "output": {"entities": {"gene": [{"text": "NKX2. 2", "start": 135, "end": 142}], "disease": [{"text": "gliomas", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "NRG1", "start": 192, "end": 196}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRG1", "start": 192, "end": 196}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Collectively, PP2Ac upregulation has a poor prognostic impact on the overall survival of HCC patients and contributes to the aggressiveness of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 89, "end": 92}], "disease": [{"text": "aggressiveness", "start": 125, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Using the largest sample sizes reported so far for the identification of genetic determinants of circulating IgE levels, we investigated associations between total serum IgE (log-transformed) and single nucleotide polymorphisms in 8 genes that are candidate susceptibility loci for IgE levels/atopic illness (IL13, IL4, IL4RA, FCER1B, IL12B, TBET) and/or type 1 diabetes (CTLA4, PTPN22, IL2RA).", "output": {"entities": {"gene": [{"text": "IL13", "start": 309, "end": 313}], "disease": [{"text": "atopic", "start": 293, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.", "output": {"entities": {"gene": [{"text": "TPM4", "start": 13, "end": 17}], "disease": [{"text": "myofibroblastic tumors", "start": 48, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TPM4", "start": 13, "end": 17}, "tail": {"text": "myofibroblastic tumors", "start": 48, "end": 70}}]}}, "schema": []}
{"input": "Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.", "output": {"entities": {"gene": [{"text": "KMT2C", "start": 63, "end": 68}], "disease": [{"text": "intellectual disability", "start": 81, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KMT2C", "start": 63, "end": 68}, "tail": {"text": "intellectual disability", "start": 81, "end": 104}}]}}, "schema": []}
{"input": "Independently, Tensin-4 (TNS4) is emerging as a putative oncogene in many cancer types, but the mechanisms of TNS4 oncogenic activity are not well established.", "output": {"entities": {"gene": [{"text": "Tensin", "start": 15, "end": 21}], "disease": [{"text": "cancer", "start": 74, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Adenosine diphosphate (ADP)-mediated platelet aggregation, aneurysm expansion, intraluminal thrombus formation, inflammatory infiltration, matrix metalloproteinase-9 (MMP-9) expression, and smooth muscle cell colonization were measured.", "output": {"entities": {"gene": [{"text": "ADP", "start": 23, "end": 26}], "disease": [{"text": "aneurysm", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.", "output": {"entities": {"gene": [{"text": "Zdhhc13", "start": 78, "end": 85}], "disease": [{"text": "osteoporosis", "start": 20, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Zdhhc13", "start": 78, "end": 85}, "tail": {"text": "osteoporosis", "start": 20, "end": 32}}]}}, "schema": []}
{"input": "We report here hypoxia increased the expression of miR-96 in prostate cancer cells, and miR-96 stimulated autophagy by suppressing MTOR.", "output": {"entities": {"gene": [{"text": "MTOR", "start": 131, "end": 135}], "disease": [{"text": "hypoxia", "start": 15, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, KWE in South African and Norwegian families is caused by tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB, resulting in upregulation of this gene in affected individuals.", "output": {"entities": {"gene": [{"text": "CTSB", "start": 165, "end": 169}], "disease": [{"text": "KWE", "start": 15, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CTSB", "start": 165, "end": 169}, "tail": {"text": "KWE", "start": 15, "end": 18}}]}}, "schema": []}
{"input": "Furthermore, by immunohistochemical studies, MAP2A was shown to highly and selectively express in invasive oral cancer tissues, consistent with its motility-promoting cellular function revealed through in vitro assays.", "output": {"entities": {"gene": [{"text": "MAP2A", "start": 45, "end": 50}], "disease": [{"text": "oral cancer", "start": 107, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Although Lcn2 did not appear to be specific for kidney toxicity, its rapid response to inflammation and tissue damage in general may suggest its utility in routine toxicity testing.", "output": {"entities": {"gene": [{"text": "Lcn2", "start": 9, "end": 13}], "disease": [{"text": "inflammation", "start": 87, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Lcn2", "start": 9, "end": 13}, "tail": {"text": "inflammation", "start": 87, "end": 99}}]}}, "schema": []}
{"input": "The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men' s Health Study.", "output": {"entities": {"gene": [{"text": "GGN", "start": 30, "end": 33}], "disease": [{"text": "prostate cancer susceptibility", "start": 59, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Our work has revealed mutations in the GLYCTK gene as the cause of D-glycerate kinase deficiency and D-glyceric aciduria and provides a noninvasive approach for further diagnostic workup and research.", "output": {"entities": {"gene": [{"text": "GLYCTK", "start": 39, "end": 45}], "disease": [{"text": "D-glycerate kinase deficiency", "start": 67, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GLYCTK", "start": 39, "end": 45}, "tail": {"text": "D-glycerate kinase deficiency", "start": 67, "end": 96}}]}}, "schema": []}
{"input": "Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl (-)/I (-)/HCO (3) (-) exchanger.", "output": {"entities": {"gene": [{"text": "EVA", "start": 58, "end": 61}], "disease": [{"text": "enlargement", "start": 18, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "To assess spinal inflammation by magnetic resonance imaging (MRI) before and after treatment with the tumor necrosis factor receptor fusion protein etanercept compared with placebo.", "output": {"entities": {"gene": [{"text": "MRI", "start": 61, "end": 64}], "disease": [{"text": "inflammation", "start": 17, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "In the present study, IMI, as indicated by the impaired expression of tight junction proteins, including zonula occludens-1, occludin and claudin-1, and inflammation were determined in colonic tissues of patients with 45 strangulated intestinal obstruction (STR-IO) and the adjacent \" normal \" colonic tissues of 35 patients with colon cancers by quantitative real-time polymerase chain reaction (QRT-PCR), Western blotting, immunohistochemistry and histological examination, respectively.", "output": {"entities": {"gene": [{"text": "occludin", "start": 125, "end": 133}], "disease": [{"text": "inflammation", "start": 153, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these observations implicate AT-rich DNA sensing via STING, TBK1 and IRF3-IRF7 in P. falciparum malaria.", "output": {"entities": {"gene": [{"text": "STING", "start": 67, "end": 72}], "disease": [{"text": "falciparum malaria", "start": 99, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Induction of the JAK2-V617F transgene with the interferon-inducible MxCre resulted in expression of JAK2-V617F approximately equal to wild-type Jak2 and a PV-like phenotype with increased hemoglobin, thrombocytosis, and neutrophilia.", "output": {"entities": {"gene": [{"text": "Jak2", "start": 144, "end": 148}], "disease": [{"text": "hemoglobin", "start": 188, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We have shown for the first time that mutations in the SARDH gene are associated with sarcosinemia.", "output": {"entities": {"gene": [{"text": "SARDH", "start": 55, "end": 60}], "disease": [{"text": "sarcosinemia", "start": 86, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SARDH", "start": 55, "end": 60}, "tail": {"text": "sarcosinemia", "start": 86, "end": 98}}]}}, "schema": []}
{"input": "It is suggested that BGP foci are promising candidates for the further investigation of' de novo' colorectal carcinogenesis.", "output": {"entities": {"gene": [{"text": "BGP", "start": 21, "end": 24}], "disease": [{"text": "carcinogenesis", "start": 109, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Constitutive STC2 expression in human breast cancer cell lines resulted in significant impairment of cell growth, migration and cell viability after serum withdrawal.", "output": {"entities": {"gene": [{"text": "STC2", "start": 13, "end": 17}], "disease": [{"text": "breast cancer", "start": 38, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STC2", "start": 13, "end": 17}, "tail": {"text": "breast cancer", "start": 38, "end": 51}}]}}, "schema": []}
{"input": "After 12 weeks, spinal inflammation (as assessed by T2-weighted MRI with fat saturation) regressed by 54% in the etanercept group (mean score 1. 33 per VU at baseline and 0. 61 per VU at 12 weeks; P = 0. 002) but worsened by 13% in the placebo group (0. 94 at baseline and 1. 06 at 12 weeks) (P < 0. 001 between groups).", "output": {"entities": {"gene": [{"text": "MRI", "start": 64, "end": 67}], "disease": [{"text": "inflammation", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Here, we report four de novo RRAS2 variants in three individuals with NS.", "output": {"entities": {"gene": [{"text": "RRAS2", "start": 29, "end": 34}], "disease": [{"text": "NS", "start": 70, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RRAS2", "start": 29, "end": 34}, "tail": {"text": "NS", "start": 70, "end": 72}}]}}, "schema": []}
{"input": "The aim of this study was to determine the role of PAR-1 in the development of skin fibrosis.", "output": {"entities": {"gene": [{"text": "PAR-1", "start": 51, "end": 56}], "disease": [{"text": "fibrosis", "start": 84, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Kaplan-Meier survival curve and Cox regression model were used to evaluate the clinical significance of CXCL14 expression in gastric cancer.", "output": {"entities": {"gene": [{"text": "CXCL14", "start": 104, "end": 110}], "disease": [{"text": "regression", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that deleted mtDNA had accumulated in COX deficient muscle fibres in patients with inclusion body myositis.", "output": {"entities": {"gene": [{"text": "COX", "start": 65, "end": 68}], "disease": [{"text": "inclusion body myositis", "start": 110, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Acute and chronic ethanol exposure have been shown to modulate function of the activity-dependent gene transcription factor, cAMP-responsive element binding (CREB) protein in the brain, which may be associated with the development of alcoholism.", "output": {"entities": {"gene": [{"text": "CREB", "start": 158, "end": 162}], "disease": [{"text": "alcoholism", "start": 234, "end": 244}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CREB", "start": 158, "end": 162}, "tail": {"text": "alcoholism", "start": 234, "end": 244}}]}}, "schema": []}
{"input": "To get more precise evidences, adjusted ORs (95% CI) by potential confounders (such as age, ethnicity or smoking, etc) were also calculated for XRCC1 Arg399Gln and Arg194Trp, however, the estimated pooled adjusted OR still did not change at all.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 144, "end": 149}], "disease": [{"text": "smoking", "start": 105, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Elafin-positive tumor cells were only found in glioblastoma, where they were clustered around necrotic areas.", "output": {"entities": {"gene": [{"text": "Elafin", "start": 0, "end": 6}], "disease": [{"text": "necrotic", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Because PNEC/NEB are sparsely distributed and difficult to study in native lung, we investigated small-cell lung carcinoma (SCLC) and carcinoid tumor cell lines (tumor counterparts of normal PNEC/NEB) as models for PNEC/NEB.", "output": {"entities": {"gene": [{"text": "NEB", "start": 13, "end": 16}], "disease": [{"text": "lung carcinoma", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 18, "end": 23}], "disease": [{"text": "ovarian cancer", "start": 109, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 18, "end": 23}, "tail": {"text": "ovarian cancer", "start": 109, "end": 123}}]}}, "schema": []}
{"input": "The hazard ratio (HR) for DD (multivariate analysis from Cox proportional model after adjustment for known factors of progression, such as hypertension [HPT] and proteinuria [PTO]) was 3. 07 (CI, 1. 1 to 9. 4).", "output": {"entities": {"gene": [{"text": "HPT", "start": 153, "end": 156}], "disease": [{"text": "proteinuria", "start": 162, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "], rs3817198 [lymphocyte-specific protein-1] and rs4666451) were marginally associated with mammographic density (p < 0. 10).", "output": {"entities": {"gene": [{"text": "lymphocyte-specific protein", "start": 14, "end": 41}], "disease": [{"text": "mammographic density", "start": 92, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Detected the serum IGF1, IGFBP3, body weight, body length, intestinal weight length, intestinal villi height (VH), crypt depth (CD), villi absorbing area (VSA), mucous thickness (MT), and disaccharidase at the 4th week.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 19, "end": 23}], "disease": [{"text": "weight", "start": 38, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We analyzed expression of human NEUROD1, NEUROD2, NEUROD3, and ACHAETE SCUTE 1 (HASH1) in cerebellar and cerebral primitive neuroectodermal tumors (PNETs), gliomas, and cell lines derived from a variety of neuroectodermal tumors by Northern analysis and in situ hybridization.", "output": {"entities": {"gene": [{"text": "NEUROD2", "start": 41, "end": 48}], "disease": [{"text": "gliomas", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 113, "end": 117}], "disease": [{"text": "CS", "start": 27, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 113, "end": 117}, "tail": {"text": "CS", "start": 27, "end": 29}}]}}, "schema": []}
{"input": "Furthermore, we found that expression of CD155/PVR increased Src/focal adhesion kinase signaling in a substrate-dependent manner, enhancing the adhesion-induced activation of paxillin and p130Cas in cells adhering to vitronectin.", "output": {"entities": {"gene": [{"text": "CD155", "start": 41, "end": 46}], "disease": [{"text": "adhesion", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.", "output": {"entities": {"gene": [{"text": "NPHS2", "start": 0, "end": 5}], "disease": [{"text": "idiopathic nephrotic syndrome", "start": 51, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NPHS2", "start": 0, "end": 5}, "tail": {"text": "idiopathic nephrotic syndrome", "start": 51, "end": 80}}]}}, "schema": []}
{"input": "Serum LBP concentrations increased with age (P & lt; 0. 001) and were higher in individuals who were overweight or obese than in normal-weight individuals (P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "LBP", "start": 6, "end": 9}], "disease": [{"text": "obese", "start": 115, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LBP", "start": 6, "end": 9}, "tail": {"text": "obese", "start": 115, "end": 120}}]}}, "schema": []}
{"input": "Tissue samples of primary tumors and metastatic lymph nodes from 150 patients undergoing intentionally curative surgical resections for colorectal adenocarcinoma were immunohistochemically examined for vascular endothelial growth factor-C, cyclooxygenase-2, and CD34 expressions.", "output": {"entities": {"gene": [{"text": "CD34", "start": 262, "end": 266}], "disease": [{"text": "colorectal adenocarcinoma", "start": 136, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Genetic deletion of p53 suppresses neurodegeneration in mHtt-Tg flies and neurobehavioral abnormalities of mHtt-Tg mice.", "output": {"entities": {"gene": [{"text": "p53", "start": 20, "end": 23}], "disease": [{"text": "neurodegeneration", "start": 35, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical analysis of human gastritis, gastric adenoma, and gastric cancer tissues revealed that IL-6 was frequently detected in the stroma.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 107, "end": 111}], "disease": [{"text": "gastric adenoma", "start": 49, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Attenuating MPHOSPH1 expression with a tumor-selective shRNA-expressing adenovirus (Ad-shMPP1) was sufficient to arrest HCC cell proliferation in a manner associated with an accumulation of multinucleated polyploid cells, induction of postmitotic apoptosis, and increased sensitivity to taxol cytotoxicity.", "output": {"entities": {"gene": [{"text": "HCC", "start": 120, "end": 123}], "disease": [{"text": "adenovirus", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Women who were NAT2 fast acetylators in the highest quartile for duration of active smoking had an OR of 2. 74 (95% CI 1. 42-5. 27), with a significant test of trend (p = 0. 005).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 15, "end": 19}], "disease": [{"text": "smoking", "start": 84, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome.", "output": {"entities": {"gene": [{"text": "NBAS", "start": 27, "end": 31}], "disease": [{"text": "skeletal dysplasia", "start": 116, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Taken together, the remarkable prostate-tissue specificity and androgen-dependent expression of PCGEM1 as well as its elevated expression in a significant percentage of tumor tissues suggest specific functions of PCGEM1 in the biology and tumorigenesis of the prostate gland.", "output": {"entities": {"gene": [{"text": "PCGEM1", "start": 96, "end": 102}], "disease": [{"text": "tumorigenesis", "start": 239, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "In order to elucidate the roles of the fractalkine/CX3CR1 system in microglial activation and neurodegeneration induced by status epilepticus (SE), we investigated changes in fractalkine/CX3CR1 system within the rat hippocampus following SE.", "output": {"entities": {"gene": [{"text": "fractalkine", "start": 39, "end": 50}], "disease": [{"text": "neurodegeneration", "start": 94, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Administration of luzindole to the CIP rats reduced PBF, aggravated the histological manifestations of pancreatitis, resulted in the significant augmentation of pancreatic MDA + 4-HNE content, and produced the marked increases of plasma levels of lipase, amylase and TNFalpha, comparing to the values observes in the rats with CIP alone.", "output": {"entities": {"gene": [{"text": "PBF", "start": 52, "end": 55}], "disease": [{"text": "pancreatitis", "start": 103, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "We observed a marked decrease in CDC2 and CDK2 kinase activity associated with a corresponding decrease in the amount of CDC2 but not CDK2 protein; a decreased growth potential of Adp21WAF1/CIP1-infected cells demonstrated by diminished [3H] thymidine incorporation, increased cell doubling time and G1-arrested cell cycle; an association between Adp21WAF1/CIP1-infected cells and inhibition of aneuploid cell accumulation; and an alteration of the malignant phenotype of cells was evidenced by the loss of anchorage-independent growth in soft agar and the failure to induce tumorigenesis in both peripheral and intracerebral xenograft models, including the prevention of tumor formation Adp21WAF1/CIP1 infection 2 days post tumor cell implantation.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 42, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 575, "end": 588}]}, "relations": {}}, "schema": []}
{"input": "No UGT expression was detected in another primary melanoma cell line, WM3211, or in any metastatic melanoma cell line examined.", "output": {"entities": {"gene": [{"text": "UGT", "start": 3, "end": 6}], "disease": [{"text": "metastatic melanoma", "start": 88, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Here, we screened ACT promoter and enhancers in 244 patients with sporadic Alzheimer' s disease (SAD) and 205 control patients, both of north Han-Chinese origin.", "output": {"entities": {"gene": [{"text": "ACT", "start": 18, "end": 21}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We used methylation-specific polymerase chain reaction (MS-PCR) and bisulfite sequencing to analyze the methyaltion level of the SOX1 promoter in seven HCC cell lines, 54 clinical HCCs, 42 cirrhotic livers, 21 livers with chronic hepatitis, and 15 control livers.", "output": {"entities": {"gene": [{"text": "HCC", "start": 152, "end": 155}], "disease": [{"text": "chronic hepatitis", "start": 222, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "A sporadic distribution of S100A12 was observed in a heatmap among the patients with different infections and bacterial pneumonia.", "output": {"entities": {"gene": [{"text": "S100A12", "start": 27, "end": 34}], "disease": [{"text": "sporadic", "start": 2, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "We examined the relationship between plasma RBP4 levels, expression of RBP4 in skeletal muscle and adipose tissue, and insulin sensitivity in Mexican Americans with varying degrees of obesity and glucose tolerance.", "output": {"entities": {"gene": [{"text": "RBP4", "start": 44, "end": 48}], "disease": [{"text": "insulin sensitivity", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Thus, Slit2/Robo1 signaling is oncogenic in intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "Robo1", "start": 12, "end": 17}], "disease": [{"text": "tumorigenesis", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Additionally, suppression of two of these targets, Rac2 and twinfilin, potentiated the action of the front-line chemotherapeutic vincristine, suggesting a critical relationship between cell motility and tumor relapse in hematopoietic malignancies.", "output": {"entities": {"gene": [{"text": "Rac2", "start": 51, "end": 55}], "disease": [{"text": "hematopoietic malignancies", "start": 220, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "This is the first time that both translocation and amplification involving the EWS gene and an unidentified gene are described.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 79, "end": 87}], "disease": [{"text": "translocation", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Identification of ATF-3, caveolin-1, DLC-1, and NM23-H2 as putative antitumorigenic, progesterone-regulated genes for ovarian cancer cells by gene profiling.", "output": {"entities": {"gene": [{"text": "NM23-H2", "start": 48, "end": 55}], "disease": [{"text": "ovarian cancer", "start": 118, "end": 132}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NM23-H2", "start": 48, "end": 55}, "tail": {"text": "ovarian cancer", "start": 118, "end": 132}}]}}, "schema": []}
{"input": "We purified DCP from the plasma of 17 patients with HCC, three patients with metastatic liver tumors (MTLT), 12 with acute hepatitis (AH), five with chronic hepatitis (CH), nine with liver cirrhosis (LC), and 10 normal controls (NC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 52, "end": 55}], "disease": [{"text": "chronic hepatitis", "start": 149, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Platelets from BSS patients are typically defective in surface expression of glycoprotein (GP) Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbα disulfide linked to GPIbβ, and noncovalently associated with GPIX and GPV.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 231, "end": 235}], "disease": [{"text": "adhesion", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Here we describe the novel and unusual mutation (p. T1048I) in the ATP7A gene of a child with Menkes disease.", "output": {"entities": {"gene": [{"text": "ATP7A", "start": 67, "end": 72}], "disease": [{"text": "Menkes disease", "start": 94, "end": 108}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP7A", "start": 67, "end": 72}, "tail": {"text": "Menkes disease", "start": 94, "end": 108}}]}}, "schema": []}
{"input": "Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.", "output": {"entities": {"gene": [{"text": "SCN2A", "start": 38, "end": 43}], "disease": [{"text": "optic atrophy", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "A landmark genome-wide association study (GWAS) identified polymorphisms in the IL28B gene on chromosome 19 (19q13. 13) associated with response to therapy with pegylated interferon-α (PEG-IFN) and ribavirin (RBV) and spontaneous viral clearance in acute hepatitis C. Furthermore, IL28B genotype is associated with changes of lipid metabolism and insulin resistance.", "output": {"entities": {"gene": [{"text": "IFN", "start": 189, "end": 192}], "disease": [{"text": "insulin resistance", "start": 347, "end": 365}]}, "relations": {}}, "schema": []}
{"input": "Activity of continuous infusion plus pulse interleukin-2 with famotidine in patients with metastatic kidney cancer or melanoma previously treated with interleukin-2.", "output": {"entities": {"gene": [{"text": "interleukin-2", "start": 43, "end": 56}], "disease": [{"text": "kidney cancer", "start": 101, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "interleukin-2", "start": 43, "end": 56}, "tail": {"text": "kidney cancer", "start": 101, "end": 114}}]}}, "schema": []}
{"input": "It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect.", "output": {"entities": {"gene": [{"text": "KIF11", "start": 27, "end": 32}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrated that combined administration of Ad-ERβ with SOC-ICG-Der-01/NIR thermotherapy represents a promising colon cancer therapeutic strategy.", "output": {"entities": {"gene": [{"text": "SOC", "start": 72, "end": 75}], "disease": [{"text": "colon cancer", "start": 128, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "In a Cox regression model, the adjusted hazard ratio for the risk of disease progression after treatment with EGFR TKIs was 0. 59 (95% confidence interval [CI], 0. 40-0. 87; P =. 008) for patients with EGFR mutations, 4. 58 (95% CI, 2. 07-10. 15; P <. 001) for patients with ALK rearrangements, and 4. 23 (95% CI, 1. 65-10. 8; P =. 003) for patients with KRAS mutations.", "output": {"entities": {"gene": [{"text": "ALK", "start": 275, "end": 278}], "disease": [{"text": "regression", "start": 9, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "In vivo CD4 T-cell reactivity (delayed type hypersensitivity) was assessed by Multitest Merieux.", "output": {"entities": {"gene": [{"text": "CD4", "start": 8, "end": 11}], "disease": [{"text": "hypersensitivity", "start": 44, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Among them, 18 had salivary gland mucosa-associated lymphoid tissue (MALT) B-cell lymphoma, 20 myoepithelial sialoadenitis (MESA), and 36 no lymphoproliferative disorders (LPD).", "output": {"entities": {"gene": [{"text": "LPD", "start": 172, "end": 175}], "disease": [{"text": "sialoadenitis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In contrast, hyperthermia-induced seizures did not cause significant changes in the number of detectable GAT-1-ir somata.", "output": {"entities": {"gene": [{"text": "GAT", "start": 105, "end": 108}], "disease": [{"text": "seizures", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We observed activation of Hic1 expression in the embryonic anlagen of many tissues displaying anomalies in MDS patients.", "output": {"entities": {"gene": [{"text": "Hic1", "start": 26, "end": 30}], "disease": [{"text": "MDS", "start": 107, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Hic1", "start": 26, "end": 30}, "tail": {"text": "MDS", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "We report on a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene.", "output": {"entities": {"gene": [{"text": "SOX3 gene", "start": 95, "end": 104}], "disease": [{"text": "sex reversal", "start": 31, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We have previously reported that decreased expression of RAS protein activator like-1 (RASAL1), a member of the RAS-GTPase-activating proteins that switch off RAS activity, contributes to colon tumor progression.", "output": {"entities": {"gene": [{"text": "RASAL1", "start": 87, "end": 93}], "disease": [{"text": "colon tumor", "start": 188, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate the existence of naturally-existing CD4 (+) CD25 (+) Foxp3 (+) Tregs (nTregs) influencing thyroiditis development in naive susceptible mice and that induction of thyroiditis in these mice involves overcoming peripheral homeostatic immune suppression by nTregs.", "output": {"entities": {"gene": [{"text": "CD4", "start": 57, "end": 60}], "disease": [{"text": "thyroiditis", "start": 111, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.", "output": {"entities": {"gene": [{"text": "glucose 6-phosphate translocase", "start": 23, "end": 54}], "disease": [{"text": "glycogen storage disease type Ib", "start": 67, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glucose 6-phosphate translocase", "start": 23, "end": 54}, "tail": {"text": "glycogen storage disease type Ib", "start": 67, "end": 99}}]}}, "schema": []}
{"input": "Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis.", "output": {"entities": {"gene": [{"text": "ataxia telangiectasia mutated", "start": 14, "end": 43}], "disease": [{"text": "fibrosis", "start": 128, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ataxia telangiectasia mutated", "start": 14, "end": 43}, "tail": {"text": "fibrosis", "start": 128, "end": 136}}]}}, "schema": []}
{"input": "In one case, whereas normal pancreas remained negative, the corresponding tumor and its metastasis displayed regular transcripts of pS2 and hSP.", "output": {"entities": {"gene": [{"text": "pS2", "start": 132, "end": 135}], "disease": [{"text": "metastasis", "start": 88, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Deficits in social behavior were detected in En2 (-/-) mice across maturation that included decreased play, reduced social sniffing and allogrooming, and less aggressive behavior.", "output": {"entities": {"gene": [{"text": "En2", "start": 45, "end": 48}], "disease": [{"text": "aggressive behavior", "start": 159, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Associations of HLA-DR3/DQ2 with GAD65 and DR4 with IA-2 antibodies in insulin-dependent diabetes mellitus (IDDM) and DR3/DQ2 with GAD65 antibodies in latent autoimmune diabetes in adult (LADA) patients are known.", "output": {"entities": {"gene": [{"text": "DQ2", "start": 24, "end": 27}], "disease": [{"text": "autoimmune diabetes", "start": 158, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Moreover, dominant-negative ATF6, or ATF6-targeted miRNA blocked sI-mediated grp78 induction, and the latter increased cardiac myocyte death upon simulated reperfusion, demonstrating critical roles for endogenous ATF6 in ischemia-mediated ER stress activation and cell survival.", "output": {"entities": {"gene": [{"text": "ATF6", "start": 28, "end": 32}], "disease": [{"text": "ischemia", "start": 221, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "We observed impaired glucose uptake, muscle insulin signaling (p-Akt), and increased markers of NF-κB signaling (p-IκBα), inflammation (p-JNK, IL-6), TLR4, and the rate-limiting enzyme of ceramide biosynthesis, SPT2, with HU WT (P < 0. 05), but not in HU MyD88 (-/-) mice.", "output": {"entities": {"gene": [{"text": "SPT2", "start": 211, "end": 215}], "disease": [{"text": "inflammation", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "The best-fitting combination of rs6259, rs858521, and rs727428 and body mass index, waist, hip, age, and smoking status accounted for 24% of the variance in SHBG levels (natural logarithm transformed).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 157, "end": 161}], "disease": [{"text": "body mass index", "start": 67, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "In contrast, intraventricular administration of prolactin caused bradycardia, hypotension and an enhancement in the epinephrine-induced reflex bradycardia in conscious rats.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 48, "end": 57}], "disease": [{"text": "hypotension", "start": 78, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin", "start": 48, "end": 57}, "tail": {"text": "hypotension", "start": 78, "end": 89}}]}}, "schema": []}
{"input": "Detection of t (2; 5) in anaplastic large cell lymphoma: comparison of immunohistochemical studies, FISH, and RT-PCR in paraffin-embedded tissue.", "output": {"entities": {"gene": [{"text": "FISH", "start": 100, "end": 104}], "disease": [{"text": "large cell lymphoma", "start": 36, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Proviral integrations were enriched near prostate cancer susceptibility loci in cells grown in androgen-deficient medium (p < 0. 001), and five candidate genes that influence AIPC were identified; ATPAF1, GCOM1, MEX3D, PTRF, and TRPM4.", "output": {"entities": {"gene": [{"text": "AIPC", "start": 175, "end": 179}], "disease": [{"text": "prostate cancer susceptibility", "start": 41, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "To examine the importance of the bacteriological component in TB transmission, we investigated the number of tuberculin skin test-positive (TST induration, ≥ 10 mm) contacts and secondary cases observed in contact investigations around TB cases in relation to the size of the genotype cluster the patient belonged to at the time of diagnosis.", "output": {"entities": {"gene": [{"text": "TST", "start": 140, "end": 143}], "disease": [{"text": "secondary", "start": 178, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "The tachykinin receptor 3 is associated with alcohol and cocaine dependence.", "output": {"entities": {"gene": [{"text": "tachykinin receptor 3", "start": 4, "end": 25}], "disease": [{"text": "cocaine dependence", "start": 57, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tachykinin receptor 3", "start": 4, "end": 25}, "tail": {"text": "cocaine dependence", "start": 57, "end": 75}}]}}, "schema": []}
{"input": "In two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping in & lt; i & gt; nucleoporin, 107-KD & lt;/i & gt; (& lt; i & gt; NUP107 & lt;/i & gt;).", "output": {"entities": {"gene": [{"text": "nucleoporin, 107", "start": 200, "end": 216}], "disease": [{"text": "GAMOS", "start": 81, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nucleoporin, 107", "start": 200, "end": 216}, "tail": {"text": "GAMOS", "start": 81, "end": 86}}]}}, "schema": []}
{"input": "Multivariate linear regression analysis revealed visceral NNT expression as age and gender independent predictor of BMI, waist circumference, visceral fat area, and% body fat, but not FPI and 2 h OGTT glucose.", "output": {"entities": {"gene": [{"text": "NNT", "start": 58, "end": 61}], "disease": [{"text": "waist circumference", "start": 121, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Clinicopathological significance of BGP expression in non-small-cell lung carcinoma: relationship with histological type, microvessel density and patients' survival.", "output": {"entities": {"gene": [{"text": "BGP", "start": 36, "end": 39}], "disease": [{"text": "non-small-cell lung carcinoma", "start": 54, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "p53 Gene mutations in sporadic colorectal carcinoma in Guangxi region.", "output": {"entities": {"gene": [{"text": "p53 Gene", "start": 0, "end": 8}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Heterozygous inactivating germline mutations of armadillo repeat containing 5 (ARMC5) have very recently been described as cause for sporadic PMAH.", "output": {"entities": {"gene": [{"text": "ARMC5", "start": 79, "end": 84}], "disease": [{"text": "sporadic", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "These findings provide novel insights into the crucial role of LOX-1 and Nrf2 in the pathogenesis of preeclampsia.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 73, "end": 77}], "disease": [{"text": "preeclampsia", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To study if there is any association between frequency of HLA-DRB1 and DQB1 genes and susceptibility or resistance to Helicobacter pylori (Hp) infection among children of Yi ethnic group in Kunming for understanding the immunogenetic features of the digestive diseases associated with Hp infection.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 58, "end": 66}], "disease": [{"text": "digestive diseases", "start": 250, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 53, "end": 58}], "disease": [{"text": "Rett syndrome", "start": 150, "end": 163}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 53, "end": 58}, "tail": {"text": "Rett syndrome", "start": 150, "end": 163}}]}}, "schema": []}
{"input": "To investigate whether hypoxia inducible factor (HIF)-1α modulates vasculogenic mimicry (VM) by upregulating VE-cadherin expression in esophageal squamous cell carcinoma (ESCC).", "output": {"entities": {"gene": [{"text": "VE-cadherin", "start": 109, "end": 120}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 135, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "MicroRNA-100 regulates neovascularization by suppression of mammalian target of rapamycin in endothelial and vascular smooth muscle cells.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 60, "end": 89}], "disease": [{"text": "neovascularization", "start": 23, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The level of netrin-1, netrin-1 receptors, ie, DCC, UNC5H1, UNC5H2, UNC5H3, and the proinflammatory markers cyclooxygenase-2 and inhibitor of nuclear factor-kappaB (IkappaB) alpha were analyzed in a panel of 59 primary sporadic colorectal carcinomas.", "output": {"entities": {"gene": [{"text": "netrin-1", "start": 13, "end": 21}], "disease": [{"text": "sporadic", "start": 219, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The major genetic pathways of CRC are the Chromosome Instability Pathway representing the pathway of sporadic CRC through the K-ras, APC, and P53 mutations, and the Microsatellite Instability Pathway representing the pathway of hereditary non-polyposis colon cancer through mutations in mismatch repair genes.", "output": {"entities": {"gene": [{"text": "P53", "start": 142, "end": 145}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "ERG abnormalities have been documented in other mutations of the PAX6 gene, and we propose that the retinal pathology causing these ERG abnormalities may contribute to the photophobia experienced by patients with aniridia.", "output": {"entities": {"gene": [{"text": "PAX6 gene", "start": 65, "end": 74}], "disease": [{"text": "photophobia", "start": 172, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Wistar albino rats were placed into incubators at birth and exposed to an atmosphere alternating between 50% and 10% of oxygen every 24 h. After 14 days, the animals were allowed to recover in room air and sacrificed at postnatal day 20 (P20).", "output": {"entities": {"gene": [{"text": "P20", "start": 238, "end": 241}], "disease": [{"text": "albino", "start": 7, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, among recurrent miscarriage women, the HLA-DR3 phenotypes seem to predispose to formation of ACL antibodies and ANA.", "output": {"entities": {"gene": [{"text": "ACL", "start": 108, "end": 111}], "disease": [{"text": "recurrent miscarriage", "start": 21, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.", "output": {"entities": {"gene": [{"text": "ASXL1", "start": 24, "end": 29}], "disease": [{"text": "pancreatic cancer", "start": 276, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "We assessed the effect of a neutrophil elastase inhibitor, EPI-hNE-4, in single (bleomycin, 1. 2 mg/rat intratracheally) and repeated (bleomycin, 1. 2 mg/rat plus endotoxin and 1 mg/kg intratracheally 24 h later) lung injuries to assess the role of neutrophil in fibrosis.", "output": {"entities": {"gene": [{"text": "neutrophil elastase", "start": 28, "end": 47}], "disease": [{"text": "fibrosis", "start": 263, "end": 271}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest a role of UCP2-UCP3 gene cluster haplotypes in diabetes; in particular, the effects of the high-risk haplotypes were more apparent in overweight Caucasian women.", "output": {"entities": {"gene": [{"text": "UCP3 gene", "start": 38, "end": 47}], "disease": [{"text": "overweight", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Sprague-Dawley rats received subcutaneous injections of CCl4 twice weekly in olive oil (1: 1, 0. 3 ml per kg body weight) for 6 or 12 weeks until ascites developed, or saline in olive oil as control.", "output": {"entities": {"gene": [{"text": "CCl4", "start": 56, "end": 60}], "disease": [{"text": "body weight", "start": 109, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Direct immunostaining by means of monoclonal antibodies directed against individual intermediate filament proteins keratin 8 and 17 revealed that the percentage of K8 + K17 + cells in material from patients with fibrocystic disease and fibroadenoma significantly exceeded that found in carcinoma specimens.", "output": {"entities": {"gene": [{"text": "K17", "start": 169, "end": 172}], "disease": [{"text": "fibroadenoma", "start": 236, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "Levels of factor VIII procoagulant activity, von Willebrand factor (vWF) and ristocetin cofactor were similar to findings for an identically treated comparison group who remained free of thrombotic complications.", "output": {"entities": {"gene": [{"text": "von Willebrand factor", "start": 45, "end": 66}], "disease": [{"text": "thrombotic", "start": 187, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "von Willebrand factor", "start": 45, "end": 66}, "tail": {"text": "thrombotic", "start": 187, "end": 197}}]}}, "schema": []}
{"input": "Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.", "output": {"entities": {"gene": [{"text": "MIM", "start": 102, "end": 105}], "disease": [{"text": "spondyloepimetaphyseal dysplasia", "start": 145, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The cultured CCS cells have the t (12; 22) (q13; q12) translocation and express the hybrid EWS/ATF-1 gene.", "output": {"entities": {"gene": [{"text": "EWS", "start": 91, "end": 94}], "disease": [{"text": "translocation", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In the largest study to date, we examined the association of plasma CRP with coronary artery calcification (CAC) in 914 asymptomatic subjects in the Study of Inherited Risk of Coronary Atherosclerosis (SIRCA).", "output": {"entities": {"gene": [{"text": "CAC", "start": 108, "end": 111}], "disease": [{"text": "coronary artery calcification", "start": 77, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The results support the deduction that BE is a tissue with enhanced glycoprotein synthesis machinery (DPP4, ATP2A3, AGR2) designed to provide strong mucosal defenses aimed at resisting gastro-esophageal reflux.", "output": {"entities": {"gene": [{"text": "DPP4", "start": 102, "end": 106}], "disease": [{"text": "gastro-esophageal reflux", "start": 185, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Our data constitute the first extensive study of IL-8 gene overexpression in breast cancer cells and suggest that the high expression of IL-8 in invasive cancer cells requires a complex cooperation between NF-kappaB, AP-1 and C/EBP transcription factors.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 206, "end": 215}], "disease": [{"text": "invasive cancer", "start": 145, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "An association analysis of HLA-DRB1 with systemic lupus erythematosus and rheumatoid arthritis in a Japanese population: effects of * 09: 01 allele on disease phenotypes.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 27, "end": 35}], "disease": [{"text": "systemic lupus erythematosus", "start": 41, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HLA-DRB1", "start": 27, "end": 35}, "tail": {"text": "systemic lupus erythematosus", "start": 41, "end": 69}}]}}, "schema": []}
{"input": "Wilson disease (WD) is caused by accumulation of excess copper (Cu) due to a mutation in the gene encoding the liver Cu transporter ATP7B, and is characterized by acute liver failure or cirrhosis and neuronal cell death.", "output": {"entities": {"gene": [{"text": "ATP7B", "start": 132, "end": 137}], "disease": [{"text": "cirrhosis", "start": 186, "end": 195}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATP7B", "start": 132, "end": 137}, "tail": {"text": "cirrhosis", "start": 186, "end": 195}}]}}, "schema": []}
{"input": "An increase in factor VII was found to be a risk factor for ischemic heart disease.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 15, "end": 25}], "disease": [{"text": "ischemic heart disease", "start": 60, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Our results showed the induction of HIF-1a via hypoxia and consequences of increased expressions of the TFF3 and VEGF in gastric cancer SGC-7901 cells.", "output": {"entities": {"gene": [{"text": "TFF3", "start": 104, "end": 108}], "disease": [{"text": "hypoxia", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Using PC12 cells and primary cultures of cortical neurons treated with amyloid-β (Aβ) (1-40) or Aβ (1-42) peptide, we demonstrated that β-asarone can protect PC12 cells and cortical neurons and inhibit neuronal apoptosis by activating the CaMKII-α/p-CREB/Bcl-2 pathway.", "output": {"entities": {"gene": [{"text": "CREB", "start": 250, "end": 254}], "disease": [{"text": "amyloid", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The alteration of T helper 1 (TH1) and TH2 responses and related cell-mediated immunity has been supposed to be associated with the immunological pathogenesis in the development of schizophrenia.", "output": {"entities": {"gene": [{"text": "TH1", "start": 30, "end": 33}], "disease": [{"text": "schizophrenia", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Moreover, SFRP5 inhibits cervical tumorigenesis through interfering Wnt pathway in vitro.", "output": {"entities": {"gene": [{"text": "SFRP5", "start": 10, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 34, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "In contrast, the expression of other Bcl-2 family antiapoptotic members such as Bcl-2 and Bcl-XL was not affected by ascites.", "output": {"entities": {"gene": [{"text": "Bcl-XL", "start": 90, "end": 96}], "disease": [{"text": "ascites", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We measured the homeostasis model assessment for insulin resistance (HOMA-IR), plasma adiponectin and its isoforms, and messenger RNA for adiponectin receptors (AdipoR1 and AdipoR2) on peripheral blood mononuclear cells in 54 stable transplant recipients, 50 patients established on hemodialysis, and 52 controls; groups were matched for body mass index and sex.", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 173, "end": 180}], "disease": [{"text": "body mass index", "start": 338, "end": 353}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine the association of common APOA5 genetic variants with carotid IMT and stenosis.", "output": {"entities": {"gene": [{"text": "APOA5", "start": 49, "end": 54}], "disease": [{"text": "stenosis", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The polymorphisms in TGF-beta (2) may become important information for asthma susceptibility in children.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 21, "end": 29}], "disease": [{"text": "asthma susceptibility", "start": 71, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Cardiac-specific overexpression of diacylglycerol kinase zeta attenuates left ventricular remodeling and improves survival after myocardial infarction.", "output": {"entities": {"gene": [{"text": "diacylglycerol kinase zeta", "start": 35, "end": 61}], "disease": [{"text": "myocardial infarction", "start": 129, "end": 150}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "diacylglycerol kinase zeta", "start": 35, "end": 61}, "tail": {"text": "myocardial infarction", "start": 129, "end": 150}}]}}, "schema": []}
{"input": "The production of N-cad/CTF2 was inhibited by pretreatment of γ-secretase inhibitors or siRNA transfection of nicastrin, indicating that γ-secretase is involved in the cleavage.", "output": {"entities": {"gene": [{"text": "nicastrin", "start": 110, "end": 119}], "disease": [{"text": "cad", "start": 20, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "All patients included in this series had documented deafness, associated with EVA and without any evidence of syndromic disease.", "output": {"entities": {"gene": [{"text": "EVA", "start": 78, "end": 81}], "disease": [{"text": "deafness", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Our investigations document that human thyroid cancer cell lines commonly express PPARgamma, but chromosomal translocations involving PPARgamma are uncommon.", "output": {"entities": {"gene": [{"text": "PPARgamma", "start": 82, "end": 91}], "disease": [{"text": "thyroid cancer", "start": 39, "end": 53}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PPARgamma", "start": 82, "end": 91}, "tail": {"text": "thyroid cancer", "start": 39, "end": 53}}]}}, "schema": []}
{"input": "Over-expression of Cyr61 also significantly enhanced adhesion activities of HepG2 cells to various ECM proteins.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 19, "end": 24}], "disease": [{"text": "adhesion", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Moreover evidences point out the increase in PGC1 expression induced by exercise as an important element for the improvement of insulin sensitivity in skeletal muscle via increase in mitochondria density and glucose transporter expression (GLUT4).", "output": {"entities": {"gene": [{"text": "PGC1", "start": 45, "end": 49}], "disease": [{"text": "insulin sensitivity", "start": 128, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluated the anti-tumor efficacy of humanized anti-death receptor 4 (DR4) antibody mapatumumab (Mapa) by comparing it with TRAIL in combination with hyperthermia.", "output": {"entities": {"gene": [{"text": "DR4", "start": 88, "end": 91}], "disease": [{"text": "hyperthermia", "start": 168, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "No increase in risk was conferred by smoking or alcohol use, or by a previous family history of SAH or of atherosclerosis.", "output": {"entities": {"gene": [{"text": "SAH", "start": 96, "end": 99}], "disease": [{"text": "alcohol use", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We examined MSI in 126 patients with sporadic CRC and the methylation status of the MLH1 and MSH2 promoter regions in the cases with MSI/LOH by using a panel of 5 microsatellite markers (BAT26, D5S346, D18S35, D2S123 and FGA) and methyl-specific PCR (MSP) of bisulfite converted DNA.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 93, "end": 97}], "disease": [{"text": "sporadic", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "p. H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 32, "end": 37}], "disease": [{"text": "21-hydroxylase deficiency", "start": 70, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 32, "end": 37}, "tail": {"text": "21-hydroxylase deficiency", "start": 70, "end": 95}}]}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "This study aimed to investigate whether LSD1 in metastasized MRMT-1 breast cancer cells in bone marrows participated in the production of endogenous formaldehyde in bone cancer pain rats.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 40, "end": 44}], "disease": [{"text": "bone cancer", "start": 165, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The relationship of expression of the C-C chemokines eotaxin, eotaxin 2, RANTES, monocyte chemoattractant protein-3 (MCP-3), and MCP-4 to the kinetics of infiltrating eosinophils, basophils, and other inflammatory cells was examined in allergen-induced, late-phase allergic reactions in the skin of human atopic subjects.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 73, "end": 79}], "disease": [{"text": "atopic", "start": 305, "end": 311}]}, "relations": {}}, "schema": []}
{"input": "As a possible mechanism for this improvement in weight, BML-111 was found to promote nuclear translocation of nuclear factor erythroid 2-related factor 2 (Nrf2), up-regulate the expression of antioxidant enzyme genes, superoxide dismutase (SOD) and glutathione peroxidase (GPx), and consequently inhibited trophoblast cells apoptosis.", "output": {"entities": {"gene": [{"text": "Nrf2", "start": 155, "end": 159}], "disease": [{"text": "weight", "start": 48, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that hypermethylation of MLH1, but not of MSH2, is associated with the MSI phenotype in sporadic endometrial carcinomas.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 59, "end": 63}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that hypoxia could upregulate CX3CR1 expression and lead to an increased chemotactic response to CX3CL1 in prostate cancer cells.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 46, "end": 52}], "disease": [{"text": "hypoxia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "In testes, while apoptosis-related caspase 3 and Bcl-xL mRNAs were significantly changed after 14 days, 3 beta-hydroxysteroid dehydrogenase mRNA was greatly reduced immediately after cryptorchidism.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 35, "end": 44}], "disease": [{"text": "cryptorchidism", "start": 183, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caspase 3", "start": 35, "end": 44}, "tail": {"text": "cryptorchidism", "start": 183, "end": 197}}]}}, "schema": []}
{"input": "Unresponsiveness to IFN-alpha is common in chronic hepatitis C. Since conditions associated with an increased oxidative stress (advanced age, steatosis, fibrosis, iron overload, and alcohol consumption) reduce the likelihood of response, we hypothesized that oxidative stress may affect the antiviral actions of IFN-alpha.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 20, "end": 29}], "disease": [{"text": "alcohol consumption", "start": 182, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C--> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C--> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G--> A in the paraoxonase 1 (PON1) gene and 2445G--> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.", "output": {"entities": {"gene": [{"text": "p22", "start": 257, "end": 260}], "disease": [{"text": "hypercholesterolemia", "start": 148, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.", "output": {"entities": {"gene": [{"text": "PROM1", "start": 52, "end": 57}], "disease": [{"text": "Cone-rod dystrophy", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PROM1", "start": 52, "end": 57}, "tail": {"text": "Cone-rod dystrophy", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "In the present study, we demonstrate that NF-kappaB, whether activated by recombinant human tumor necrosis factor (TNF)-alpha or by ectopic expression of the p65 subunit, is involved in extracellular matrix adhesion and invasion of osteotropic PC-3 and C4-2B, but not LNCaP, cells.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 42, "end": 51}], "disease": [{"text": "adhesion", "start": 207, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "We have performed a comprehensive mutation analysis of the EHMT1 gene in 23 patients with clinical presentations reminiscent of 9q subtelomeric deletion syndrome.", "output": {"entities": {"gene": [{"text": "EHMT1", "start": 59, "end": 64}], "disease": [{"text": "9q subtelomeric deletion syndrome", "start": 128, "end": 161}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EHMT1", "start": 59, "end": 64}, "tail": {"text": "9q subtelomeric deletion syndrome", "start": 128, "end": 161}}]}}, "schema": []}
{"input": "We report that the histone demethylase jumonji domain containing protein 2C (JMJD2C) selectively interacts with HIF-1α, but not HIF-2α, and that HIF-1α mediates recruitment of JMJD2C to the hypoxia response elements of HIF-1 target genes.", "output": {"entities": {"gene": [{"text": "jumonji", "start": 39, "end": 46}], "disease": [{"text": "hypoxia", "start": 190, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "The obtained results indicate that OFQ/N can inhibit the morphine withdrawal symptoms induced by naloxone.", "output": {"entities": {"gene": [{"text": "OFQ", "start": 35, "end": 38}], "disease": [{"text": "withdrawal symptoms", "start": 66, "end": 85}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "OFQ", "start": 35, "end": 38}, "tail": {"text": "withdrawal symptoms", "start": 66, "end": 85}}]}}, "schema": []}
{"input": "Country-specific CRC incidence data, per capita consumption data for meat and other dietary factors, prevalence of the rapid/intermediate NAT2 phenotype, and prevalence of smoking for 27 countries were used.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 138, "end": 142}], "disease": [{"text": "smoking", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Bcl-xL levels were higher in endometrial carcinoma (median, 1. 23 AU; range, 0. 03 (4. 29 AU) than in normal tissues (median, 0. 56 AU; range, 0. 46-1. 48 AU; P <. 048), whereas no significant difference was observed in cervical tissues.", "output": {"entities": {"gene": [{"text": "Bcl-xL", "start": 0, "end": 6}], "disease": [{"text": "endometrial carcinoma", "start": 29, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "In the context of Total Therapy 2, a tandem transplant trial for newly diagnosed myeloma, comprehensive information was available in 220 patients on standard prognostic factors (SPF), magnetic resonance imaging (MRI)-defined focal lesions, cytogenetic abnormalities (CA), fluorescence-in-situ-hybridisation (FISH)-derived amplification of chromosome 1q21 (amp1q21) and deletion of 13q14, as well as gene expression profiling (GEP).", "output": {"entities": {"gene": [{"text": "GEP", "start": 426, "end": 429}], "disease": [{"text": "cytogenetic abnormalities", "start": 240, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "This study was designed to elucidate the differential roles of VEGF isoforms in scar formation after trabeculectomy.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 63, "end": 67}], "disease": [{"text": "scar", "start": 80, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "At P14-15, genotype had no effect on total bradycardia, but Pet-1 (-/-) animals had up to seven times more total hypoxia (P < 0. 001), owing to longer and more frequent apneas and a normalized Vo (2).", "output": {"entities": {"gene": [{"text": "Pet-1", "start": 60, "end": 65}], "disease": [{"text": "hypoxia", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "ACT based on the administration of cytotoxic T cells genetically engineered to express a chimeric antigen receptor (CAR) recognizing CD19 expressed by B cell malignancies has been shown to induce complete lasting responses in patients with chronic lymphocytic leukaemia (CLL) and acute lymphoblastic leukaemia (ALL).", "output": {"entities": {"gene": [{"text": "ACT", "start": 0, "end": 3}], "disease": [{"text": "acute lymphoblastic leukaemia", "start": 280, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "Promoter hypermethylation of RAMP2, epidermal growth factor-containing fibulin-like extracellular matrix protein 1, and deleted in U Twenty Twenty cells was detected in 36% to 77% of 22 lung cancer cell lines and in 38% to 50% of 32 primary lung tumors, whereas hypermethylathion of these genes was rarely found in the matched normal samples.", "output": {"entities": {"gene": [{"text": "RAMP2", "start": 29, "end": 34}], "disease": [{"text": "lung cancer", "start": 186, "end": 197}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RAMP2", "start": 29, "end": 34}, "tail": {"text": "lung cancer", "start": 186, "end": 197}}]}}, "schema": []}
{"input": "Triarylmethane (TRAM)-34, a KCa3. 1 blocker, dose-dependently inhibited the generation and maintenance of the ovalbumin-induced airway inflammation associated with increased Th2-type cytokines and decreased Th1-type cytokine, as well as subepithelial extracellular matrix deposition, goblet-cell hyperplasia, and AHR in a murine model of asthma.", "output": {"entities": {"gene": [{"text": "TRAM", "start": 16, "end": 20}], "disease": [{"text": "asthma", "start": 338, "end": 344}]}, "relations": {}}, "schema": []}
{"input": "It has been shown that some thrombotic patients carry an additional genetic risk factor such as protein C, protein S, antithrombin deficiency or the G20210A mutation on the prothrombin gene.", "output": {"entities": {"gene": [{"text": "protein S", "start": 107, "end": 116}], "disease": [{"text": "thrombotic", "start": 28, "end": 38}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "protein S", "start": 107, "end": 116}, "tail": {"text": "thrombotic", "start": 28, "end": 38}}]}}, "schema": []}
{"input": "Agonists of the retinoic acid-and retinoid X-receptors inhibit hepatocyte growth factor secretion and expression in U87 human astrocytoma cells.", "output": {"entities": {"gene": [{"text": "hepatocyte growth factor", "start": 63, "end": 87}], "disease": [{"text": "astrocytoma", "start": 126, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "hepatocyte growth factor", "start": 63, "end": 87}, "tail": {"text": "astrocytoma", "start": 126, "end": 137}}]}}, "schema": []}
{"input": "When artificially immobilized, however, MATN3 induced chondrocyte adhesion via a α5β1 integrin-dependent mechanism, AKT activation and favored survival and ECM synthesis.", "output": {"entities": {"gene": [{"text": "AKT", "start": 116, "end": 119}], "disease": [{"text": "adhesion", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.", "output": {"entities": {"gene": [{"text": "SLC4A10", "start": 45, "end": 52}], "disease": [{"text": "mental retardation", "start": 100, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SLC4A10", "start": 45, "end": 52}, "tail": {"text": "mental retardation", "start": 100, "end": 118}}]}}, "schema": []}
{"input": "Patients with the CT/TT genotype reported a higher VAS leg pain intensity (P = 0. 002) and also a lower PPT in the gluteal muscles (left P = 0. 016; right P = 0. 016) compared with patients with the CC genotype during 1 year of follow-up.", "output": {"entities": {"gene": [{"text": "PPT", "start": 104, "end": 107}], "disease": [{"text": "leg pain", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Human ovarian cancer, cell lines, and primary ascites cells express the human Mullerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS.", "output": {"entities": {"gene": [{"text": "MIS", "start": 110, "end": 113}], "disease": [{"text": "ascites", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The IL-4 receptor (IL-4R) and IL-13 genes are candidate genes in atopic diseases.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 30, "end": 35}], "disease": [{"text": "atopic", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Our data also reveal the usefulness of the SP assay to identify and isolate MSC cells from carcinomas.", "output": {"entities": {"gene": [{"text": "MSC", "start": 76, "end": 79}], "disease": [{"text": "carcinomas", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "When stratified by cumulative smoking exposure, in the subgroup of smokers with high pack-years, NAT2 slow genotypes were significantly associated with increased breast cancer risk (OR = 1. 400, 95% CI = 1. 099-1. 784).", "output": {"entities": {"gene": [{"text": "NAT2", "start": 97, "end": 101}], "disease": [{"text": "smoking", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "While accounting for family clusters and blood pressure at baseline and with adjustments applied for sex, age, body mass index, smoking and drinking, total cholesterol, and antihypertensive drug treatment, all associations of systolic and diastolic blood pressure changes with nine single nucleotide polymorphisms (SNPs) in PEAR1 were all non-significant (p ≥ 0. 059).", "output": {"entities": {"gene": [{"text": "PEAR1", "start": 324, "end": 329}], "disease": [{"text": "drinking", "start": 140, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "In addition, HHV-6 DNA sequences were significantly more prevalent in LAS biopsies (13/20, 65%) than in HIV-unrelated reactive lymphadenopathies (2/10, 20%; P = 0. 02) and the presence of HHV-6 sequences correlated closely with a histologic pattern of follicular hyperplasia (13/16, 81%; P = 0. 003).", "output": {"entities": {"gene": [{"text": "LAS", "start": 70, "end": 73}], "disease": [{"text": "follicular hyperplasia", "start": 252, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "Forty-eight rats were divided into a sham group (in which sham laparotomy was performed) and a CLP group (in which peritonitis was induced by cecal ligation and perforation).", "output": {"entities": {"gene": [{"text": "CLP", "start": 95, "end": 98}], "disease": [{"text": "peritonitis", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "We studied the effects of CYP2C9, mEH, GSTA1, and GGCX genotypes on warfarin maintenance doses, accounting for age, weight, vitamin K plasma concentrations and concurrent medications, in 100 patients undergoing therapeutic anticoagulation.", "output": {"entities": {"gene": [{"text": "GSTA1", "start": 39, "end": 44}], "disease": [{"text": "weight", "start": 116, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as \" Mild \" (controls) or \" Severe \" (cases), based on renal manifestations.", "output": {"entities": {"gene": [{"text": "COL4A5", "start": 261, "end": 267}], "disease": [{"text": "mild", "start": 268, "end": 272}]}, "relations": {}}, "schema": []}
{"input": "OPG 163 A--> G, 209 G--> A, 245 T--> G, and 1181 G--> C polymorphisms; RANK 421 C--> T and 575 C--> T polymorphisms; and RANKL rs12721445 and rs2277438 polymorphisms, as well as the bone mineral density at the lumbar spine (LSBMD) and femoral neck (FNBMD) were analyzed.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 121, "end": 126}], "disease": [{"text": "bone mineral density", "start": 182, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Increased risks of colorectal cancer associated with the 113Y allele and imputed EPHX1 phenotype were observed among individuals with high body mass index (BMI; ≥ 25. 0 kg/m (2)), but not among those with low BMI (< 25. 0 kg/m (2)).", "output": {"entities": {"gene": [{"text": "EPHX1", "start": 81, "end": 86}], "disease": [{"text": "body mass index", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "One the basis of two special typical cases, the authors detail the symptoms and signs and consider the physiopathology of inappropriate secretion of antidiuretic hormone related to vincristine. Urinary ADH was measured in both cases.", "output": {"entities": {"gene": [{"text": "ADH", "start": 202, "end": 205}], "disease": [{"text": "inappropriate secretion of antidiuretic hormone", "start": 122, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ADH", "start": 202, "end": 205}, "tail": {"text": "inappropriate secretion of antidiuretic hormone", "start": 122, "end": 169}}]}}, "schema": []}
{"input": "We identified strong associations to individual disorders, such as growth hormone releasing hormone (GHRH) with anxiety disorders, prolactin regulatory element (PREB) with eating disorders, ionotropic kainate glutamate receptor 5 (GRIK5) with bipolar disorder and several SNPs associated to several disorders, that may represent individual and related disease susceptibility factors.", "output": {"entities": {"gene": [{"text": "GHRH", "start": 101, "end": 105}], "disease": [{"text": "bipolar disorder", "start": 243, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Despite the high proportion of functional revertant T cells, the patient still has severe infections and autoimmune disorders, suggesting that re-expression of WASP in T cells is not sufficient to normalize immune functions fully in patients with WAS.", "output": {"entities": {"gene": [{"text": "WASP", "start": 160, "end": 164}], "disease": [{"text": "infections", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The role of TP53 somatic mutations in the development of brain tumors has been elucidated in the individual-participant meta-analysis that provided, for the first time, strong evidence that mean age at the onset of sporadic brain tumor is significantly lower in patients with mutated compared with wild-type TP53 in all groups stratified by tumor grade.", "output": {"entities": {"gene": [{"text": "TP53", "start": 12, "end": 16}], "disease": [{"text": "sporadic", "start": 215, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "The cannabinoid receptor 1 gene (CNR1) on chromosome 6q14-15 is an excellent candidate gene for cannabis dependence due to the important role of the G-protein coupled receptor encoded by this gene in the rewarding effects of Delta9-tetrahydrocannabinol.", "output": {"entities": {"gene": [{"text": "G-protein coupled receptor", "start": 149, "end": 175}], "disease": [{"text": "cannabis dependence", "start": 96, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "G-protein coupled receptor", "start": 149, "end": 175}, "tail": {"text": "cannabis dependence", "start": 96, "end": 115}}]}}, "schema": []}
{"input": "Because it has been shown to protect striatal neurons against excitotoxic injury, a second-generation ciliary neurotrophic factor (CNTF) (AXOKINE) was administered by continuous intracerebral infusion (2 microg/day) beginning 28 h after hemorrhage and continuing for 2 weeks.", "output": {"entities": {"gene": [{"text": "CNTF", "start": 131, "end": 135}], "disease": [{"text": "hemorrhage", "start": 237, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Genetic factors, as Apo E genotypes, could allow the early identification of patients who are at a high risk for developing hyperlipidemia PST.", "output": {"entities": {"gene": [{"text": "PST", "start": 139, "end": 142}], "disease": [{"text": "hyperlipidemia", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The majority of SCH patients are sporadic, but familial SCH has been described.", "output": {"entities": {"gene": [{"text": "SCH", "start": 16, "end": 19}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "After evaluation of secondary causes of eosinophilia, the 2008 World Health Organization establishes a semimolecular classification scheme of disease subtypes including \" myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1', chronic eosinophilic leukemia, not otherwise specified \" (CEL, NOS), lymphocyte-variant HE, and idiopathic hypereosinophilic syndrome (HES), which is a diagnosis of exclusion.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 241, "end": 247}], "disease": [{"text": "abnormalities", "start": 224, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "When animals were challenged intravenously at 4 or 6 months with the uncloned pathogenic SIVmac251 strain, viremia was curtailed by approximately 1, 000-fold at peak height without any sign of hyperactivation in CD4 (+)-or CD8 (+)-T-cell compartment or increase in lymph node cell cycling.", "output": {"entities": {"gene": [{"text": "CD4", "start": 212, "end": 215}], "disease": [{"text": "viremia", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "IL-27 inhibited the production of IL-17A and IL-17F in naive T cells by suppressing, in a STAT1-dependent manner, the expression of the Th17-specific transcription factor RORgamma t. The in vivo significance of the role of IL-27 was addressed in delayed-type hypersensitivity response and experimental autoimmune encephalomyelitis (EAE).", "output": {"entities": {"gene": [{"text": "IL-27", "start": 0, "end": 5}], "disease": [{"text": "delayed-type hypersensitivity response", "start": 246, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "However, it was shown that Kindlin-2 was expressed in the stromal element of all the transplanted tumors and archival specimens of human bladder cancer.", "output": {"entities": {"gene": [{"text": "Kindlin-2", "start": 27, "end": 36}], "disease": [{"text": "bladder cancer", "start": 137, "end": 151}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Kindlin-2", "start": 27, "end": 36}, "tail": {"text": "bladder cancer", "start": 137, "end": 151}}]}}, "schema": []}
{"input": "Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.", "output": {"entities": {"gene": [{"text": "TGFB2", "start": 30, "end": 35}], "disease": [{"text": "thoracic aortic aneurysm", "start": 70, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TGFB2", "start": 30, "end": 35}, "tail": {"text": "thoracic aortic aneurysm", "start": 70, "end": 94}}]}}, "schema": []}
{"input": "We have introduced an RNA-based screen for small APP 5'-UTR binding molecules to identify leads that limit APP translation (but not APLP-1 and APLP-2) and amyloid Abeta peptide production.", "output": {"entities": {"gene": [{"text": "UTR", "start": 56, "end": 59}], "disease": [{"text": "amyloid", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We suggest that alterations in the p53 and RB pathway, both are essential in controlling the cell-cycle progression, are critical points in the tumorigenesis of sporadic and NF1-associated MPNSTs, whereas the PTEN gene seems to play no significant role in this process.", "output": {"entities": {"gene": [{"text": "p53", "start": 35, "end": 38}], "disease": [{"text": "sporadic", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In pancreatic tumor cells, exogenous MDA-7 protein activates STAT3 and kills cells via engagement of IL-20 receptors.", "output": {"entities": {"gene": [{"text": "IL-20", "start": 101, "end": 106}], "disease": [{"text": "pancreatic tumor", "start": 3, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "A total of 104 infertile men were selected with idiopathic nonobstructive azoospermia, cryptozoospermia, oligozoospermia, oligonecrozoospermia, and oligoasthenoteratozoospermia (OAT) syndrome, along with a control group of 106 men with proven paternity.", "output": {"entities": {"gene": [{"text": "OAT", "start": 178, "end": 181}], "disease": [{"text": "infertile", "start": 15, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Reporter gene assays using minimal reporters containing hypoxia response elements and activator protein-1 (AP-1) elements revealed that the activities of hypoxia inducible factor-1α (HIF-1α) and AP-1, key transcription factors for VEGF gene transcription, were suppressed by quercetin.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 107, "end": 111}], "disease": [{"text": "hypoxia", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Although other non-bone-seeking radiotracers such as iodine-123-labeled amyloid P component ((123) I-SAP), 123-iodine-Meta-iodobenzylguanidine ((123) I-mIBG), 99m-technetium-labeled protease inhibitor, and indium-111-labeled amyloid antibodies have also shown some success in identifying cardiac amyloidosis, the future, however, may lie in labeling derivatives of thioflavin-T. With the recent success of visualizing deposition of amyloid β in the brain, the US Food and Drug Administration-approved PET imaging agent (18) F-florbetapir may be used to target cardiac amyloidosis next.", "output": {"entities": {"gene": [{"text": "SAP", "start": 101, "end": 104}], "disease": [{"text": "cardiac amyloidosis", "start": 288, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "Thus, salusin-β enhanced monocyte adhesion to vascular ECs through NF-κB-mediated inflammatory responses in ECs, which can be modified by PI3K or ERK signals.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 67, "end": 72}], "disease": [{"text": "adhesion", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively.", "output": {"entities": {"gene": [{"text": "TPM2", "start": 167, "end": 171}], "disease": [{"text": "sporadic", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "The present study was designed to investigate the role of HIF-1α in mild hypoxia-induced cardiomyocytes hypertrophy and its underlying mechanism.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 58, "end": 64}], "disease": [{"text": "hypertrophy", "start": 104, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The RNA interference of amino acid transporter LAT1 inhibits the growth of KB human oral cancer cells.", "output": {"entities": {"gene": [{"text": "LAT1", "start": 47, "end": 51}], "disease": [{"text": "oral cancer", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Results from these studies support the hypothesis that combining ligand activation of PPARbeta/delta with inhibition of COX-2 activity can inhibit chemically induced skin tumor progression by modulating differentiation.", "output": {"entities": {"gene": [{"text": "COX-2", "start": 120, "end": 125}], "disease": [{"text": "skin tumor", "start": 166, "end": 176}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "COX-2", "start": 120, "end": 125}, "tail": {"text": "skin tumor", "start": 166, "end": 176}}]}}, "schema": []}
{"input": "The upregulation of NS, EGF and EGFR mRNA frequently occurs in ESCC tissues and is associated with malignancy of human esophageal squamous tumors.", "output": {"entities": {"gene": [{"text": "EGF", "start": 24, "end": 27}], "disease": [{"text": "esophageal", "start": 119, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Thus, suppression of topo IIbeta and/or PRDX2 levels in myeloid leukemia cells provides a novel approach for improving ATRA-based differentiation therapy.", "output": {"entities": {"gene": [{"text": "PRDX2", "start": 40, "end": 45}], "disease": [{"text": "myeloid leukemia", "start": 56, "end": 72}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PRDX2", "start": 40, "end": 45}, "tail": {"text": "myeloid leukemia", "start": 56, "end": 72}}]}}, "schema": []}
{"input": "Intriguingly, HOXD13, a member of the HOXD cluster not normally expressed in hematopoietic cells, was recently identified as a partner of NUP98 in a t (2; 11) translocation associated with t-AML/MDS.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 138, "end": 143}], "disease": [{"text": "translocation", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "These findings suggested that CSC-like SP cells expressing alpha2-, alpha5-, beta3-, and beta5-integrin, and CD44, may play an important role for peritoneal metastasis in gastric carcinoma.", "output": {"entities": {"gene": [{"text": "beta3", "start": 77, "end": 82}], "disease": [{"text": "gastric carcinoma", "start": 171, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "By logistic regression, with age and factor VIII (categorical [< or = 150%, > 150%]) as explanatory variables and group (cases, controls) as the dependent variable, after adjusting for age, high factor VIII was a significant predictor for miscarriage (odds ratio, 3. 28; 95% confidence interval, 1. 34-8. 04; P =. 01).", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 37, "end": 48}], "disease": [{"text": "miscarriage", "start": 239, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Our objective was to examine the association of genetic variation at IGF1 with height, weight and BMI using a sample of premenopausal women.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 69, "end": 73}], "disease": [{"text": "weight", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Expression of the Rap1 guanine nucleotide exchange factor, MR-GEF, is altered in individuals with bipolar disorder.", "output": {"entities": {"gene": [{"text": "guanine nucleotide exchange factor", "start": 23, "end": 57}], "disease": [{"text": "bipolar disorder", "start": 98, "end": 114}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "guanine nucleotide exchange factor", "start": 23, "end": 57}, "tail": {"text": "bipolar disorder", "start": 98, "end": 114}}]}}, "schema": []}
{"input": "We concluded that GGT is positively related to age in the 20s to late 30s and to BMI in overweight subjects; both relationships of age and BMI were independent of alcohol consumption.", "output": {"entities": {"gene": [{"text": "GGT", "start": 18, "end": 21}], "disease": [{"text": "alcohol consumption", "start": 163, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We measured DNA methylation in 342 transitional cell carcinoma tumors at BCL2, PTGS2 (COX2), DAPK, CDH1 (ECAD), EDNRB, RASSF1A, RUNX3, TERT, and TIMP3.", "output": {"entities": {"gene": [{"text": "RUNX3", "start": 128, "end": 133}], "disease": [{"text": "transitional cell carcinoma", "start": 35, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The objectives of this study were to assess RelB expression relative to markers of inflammation as well as its association with cardiovascular and pulmonary features of COPD patients at stable-state and exacerbation.", "output": {"entities": {"gene": [{"text": "RelB", "start": 44, "end": 48}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Additionally, interactions between FGB and with environmental factors (alcohol and smoking in men, and BMI in women) were found.", "output": {"entities": {"gene": [{"text": "FGB", "start": 35, "end": 38}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "However, the effects of targeting of mTORC2 on malignant pheochromocytomas (PCC) and paragangliomas (PGL) have not been reported.", "output": {"entities": {"gene": [{"text": "mTORC2", "start": 37, "end": 43}], "disease": [{"text": "paragangliomas", "start": 85, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Muscle biopsies from untreated patients with dermatomyositis, polymyositis, inclusion body myositis, and controls were investigated for the expression of endothelial (CD31, von Willebrand factor, vascular endothelial growth factor receptor 2), hematopoietic (CD34, CD133, CD45), and myogenic (Pax7, MyoD) markers by immunohistochemistry and reverse-transcriptase-polymerase chain reaction.", "output": {"entities": {"gene": [{"text": "Pax7", "start": 293, "end": 297}], "disease": [{"text": "dermatomyositis", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "There is a considerable amount of evidence supporting a role for the 5-HT (7) receptor in depression.", "output": {"entities": {"gene": [{"text": "5-HT (7", "start": 69, "end": 76}], "disease": [{"text": "depression", "start": 90, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (7", "start": 69, "end": 76}, "tail": {"text": "depression", "start": 90, "end": 100}}]}}, "schema": []}
{"input": "The inactivation of the ALK oncogene on doxycycline treatment was sufficient to induce sustained regression of both hematopoietic tumors and skin disease.", "output": {"entities": {"gene": [{"text": "ALK", "start": 24, "end": 27}], "disease": [{"text": "regression", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Overall, LOH at any 3p region was frequent (80%) in both groups of cancers and in their associated VIN lesions.", "output": {"entities": {"gene": [{"text": "VIN", "start": 99, "end": 102}], "disease": [{"text": "cancers", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Neurological function (assessed using the Modified Neurological Severity Score), infarct volume, MMP2/AQP4/AQP9 mRNA and protein expression, and inflammatory cell infiltration were all evaluated at 24 h post-reperfusion.", "output": {"entities": {"gene": [{"text": "AQP9", "start": 107, "end": 111}], "disease": [{"text": "infarct", "start": 81, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "P21 and P15 proteins mainly distributed in the interstitium of portal areas, the piece meal necrotic sites and the nuclei and cytoplasm of the hepatocytes.", "output": {"entities": {"gene": [{"text": "P15", "start": 8, "end": 11}], "disease": [{"text": "necrotic", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The three stop codon mutants and one of the splice mutants had phenotypes indistinguishable from the Pde6b (rd1) mouse in rapidity of onset of retinal degeneration, suggesting that they are null alleles.", "output": {"entities": {"gene": [{"text": "Pde6b", "start": 101, "end": 106}], "disease": [{"text": "retinal degeneration", "start": 143, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Pde6b", "start": 101, "end": 106}, "tail": {"text": "retinal degeneration", "start": 143, "end": 163}}]}}, "schema": []}
{"input": "The baseline IP-10 levels were significantly correlated with the degree of fibrosis and had the ability to differentiate between patients with mild, moderate and advanced stages of fibrosis (F0-1: 95. 24 ± 33. 08 pg/ml, n = 25; F2: 158. 70 ± 52. 74 pg/ml, n = 37; F3-4: 357. 45 ± 162. 18 pg/ml, n = 22; P < 0. 001).", "output": {"entities": {"gene": [{"text": "IP-10", "start": 13, "end": 18}], "disease": [{"text": "fibrosis", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We find that four alleles (R185Q, L289M, A455S, and A472T) result in mild (< 30%), six (Q19P, A167V, R185W, D426N, V427M, and R431H) in moderate (30%-70%), and five (P406L, L441P, R453C, T466M, and Q521E) in severe (> 70%) reduction in POX activity, whereas one (Q521R) increases POX activity.", "output": {"entities": {"gene": [{"text": "POX", "start": 236, "end": 239}], "disease": [{"text": "mild", "start": 69, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Our findings are the first to suggest that impairment of SHP-1 expression is involved in the physiopathology of schizophrenia, opening fruitful new avenues for ameliorating treatment at least of negative symptoms.", "output": {"entities": {"gene": [{"text": "SHP-1", "start": 57, "end": 62}], "disease": [{"text": "schizophrenia", "start": 112, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SHP-1", "start": 57, "end": 62}, "tail": {"text": "schizophrenia", "start": 112, "end": 125}}]}}, "schema": []}
{"input": "The aim of this study was to determine whether TNF-α-308 gene polymorphism was associated with smoking-related COPD and whether it was associated with pulmonary function parameters (PFTs), body mass index (BMI), and prognosis.", "output": {"entities": {"gene": [{"text": "TNF-α", "start": 47, "end": 52}], "disease": [{"text": "smoking", "start": 95, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "The evidence of a relation between folate intake and one-carbon metabolism (OCM) with pancreatic cancer (PanCa) is inconsistent.", "output": {"entities": {"gene": [{"text": "OCM", "start": 76, "end": 79}], "disease": [{"text": "pancreatic cancer", "start": 86, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Further, cleaved CRIPTO was detected in media from seminoma and embryonal carcinoma cell lines, suggesting that cleaved CRIPTO may provide diagnostic indication of germ cell cancer.", "output": {"entities": {"gene": [{"text": "CRIPTO", "start": 17, "end": 23}], "disease": [{"text": "germ cell cancer", "start": 164, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "In particular, increased levels of MIF were associated with hypergammaglobulinemia.", "output": {"entities": {"gene": [{"text": "MIF", "start": 35, "end": 38}], "disease": [{"text": "hypergammaglobulinemia", "start": 60, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Expression of HSPF1 and LIM in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "HSPF1", "start": 14, "end": 19}], "disease": [{"text": "bipolar disorder", "start": 83, "end": 99}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSPF1", "start": 14, "end": 19}, "tail": {"text": "bipolar disorder", "start": 83, "end": 99}}]}}, "schema": []}
{"input": "We also identified an excess of rare promoter and 5' untranslated region (UTR) variants in psoriasis cases compared to controls (p = 0. 041), whereas there was no significant difference in the number of rare coding and rare 3' UTR variants.", "output": {"entities": {"gene": [{"text": "UTR", "start": 74, "end": 77}], "disease": [{"text": "psoriasis", "start": 91, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The most frequently observed brain structural anomalies included agenesis of the corpus callosum and neuronal migration/organisation disorders as well as intracerebral cysts, porencephaly and cerebellar malformations.", "output": {"entities": {"gene": [{"text": "neuronal migration", "start": 101, "end": 119}], "disease": [{"text": "porencephaly", "start": 175, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.", "output": {"entities": {"gene": [{"text": "ECEL1", "start": 30, "end": 35}], "disease": [{"text": "distal arthrogryposis type 5D", "start": 69, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ECEL1", "start": 30, "end": 35}, "tail": {"text": "distal arthrogryposis type 5D", "start": 69, "end": 98}}]}}, "schema": []}
{"input": "BS type II is caused by mutations in the KCNJ1 gene and usually presents with transient hyperkalemia.", "output": {"entities": {"gene": [{"text": "KCNJ1 gene", "start": 41, "end": 51}], "disease": [{"text": "hyperkalemia", "start": 88, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The present study aimed at searching for association between 5-HTR2A polymorphism and schizotypic personality traits being considered as recognized phenotype predisposing to schizophrenia.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 63, "end": 68}], "disease": [{"text": "personality traits", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to assess the expression of LST1 in colonic epithelium and endothelium during intestinal inflammation.", "output": {"entities": {"gene": [{"text": "LST1", "start": 54, "end": 58}], "disease": [{"text": "inflammation", "start": 115, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Administration of CBD-VEGF also induced reduction of scar size, whereas native VEGF did not have these effects.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 22, "end": 26}], "disease": [{"text": "scar", "start": 53, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Using this sensitive approach, TP53 was found to be frequently mutated in both BRCA1 (34 of 35, 97%) and sporadic (35 of 38, 92%) BLCs.", "output": {"entities": {"gene": [{"text": "TP53", "start": 31, "end": 35}], "disease": [{"text": "sporadic", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The 12-bp deletion is in linkage disequilibrium with the minor \" T \" allele of the-656 C/T SNP (NT_033927. 7 (SERPINH1): g. 5495402C > T) that reduces promoter activity in amnion fibroblast cells and is associated with a significantly increased risk of preterm birth as a result of premature rupture of membranes.", "output": {"entities": {"gene": [{"text": "SERPINH1", "start": 110, "end": 118}], "disease": [{"text": "preterm birth", "start": 253, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "To test further the hypothesis that the TRH-induced TSH response is a vulnerability marker for alcoholism, we tested 25 young men with an alcoholic father [family history-positive (FHP)] and matched them, on alcohol consumption, to 25 young men with no identified first-or second-degree relatives with alcoholism [family history-negative (FHN)].", "output": {"entities": {"gene": [{"text": "TRH", "start": 40, "end": 43}], "disease": [{"text": "alcohol consumption", "start": 208, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Although similar light microscopic features are noted in EMC and SMC, fundamental differences are noted at the ultrastructural and molecular levels, suggesting that EMC and SMC represent two distinct entities in the chondrosarcoma family of tumors.", "output": {"entities": {"gene": [{"text": "SMC", "start": 65, "end": 68}], "disease": [{"text": "chondrosarcoma", "start": 216, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Normal Sprague-Dawley rat mammary gland epithelial cells and mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo [4, 5-b] pyridine, a carcinogen found in the diet, were examined for the expression of peroxisome proliferator-activated receptor alpha (PPAR alpha).", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor alpha", "start": 217, "end": 265}], "disease": [{"text": "carcinomas", "start": 75, "end": 85}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "peroxisome proliferator-activated receptor alpha", "start": 217, "end": 265}, "tail": {"text": "carcinomas", "start": 75, "end": 85}}]}}, "schema": []}
{"input": "None of the control cases (2 M, 3 F, 20-76 years), of cases showing slight vascular proliferation, dermal fibrosis and inflammation after radiotherapy of breast cancer (12 F, 48-79 years), of cases of atypical vascular lesions after radiotherapy (16 F, 29-81 years), and of cases of angiosarcomas of skin and soft tissues unrelated to radiotherapy (3 M, 5 F, 25-92 years) showed an amplification of MYC by FISH analysis.", "output": {"entities": {"gene": [{"text": "MYC", "start": 399, "end": 402}], "disease": [{"text": "inflammation", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In chronic inflammatory demyelinating polyneuropathy, we did not find an association with CD1 genes, but we found an association with a homozygous genotype for a low repeat number of tandem GA in the SH2D2A gene.", "output": {"entities": {"gene": [{"text": "CD1", "start": 90, "end": 93}], "disease": [{"text": "chronic inflammatory demyelinating polyneuropathy", "start": 3, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The younger patients had absent to mild foveal atrophy on OCT, and four of the six demonstrated foveal and parafoveal hyperfluorescence on FAF.", "output": {"entities": {"gene": [{"text": "FAF", "start": 139, "end": 142}], "disease": [{"text": "foveal atrophy", "start": 40, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, TNF-alpha present in RCM of A549 was found to mediate nuclear factor-kappaB (NF-kappaB) translocation to nucleus, whereas the soluble TRAIL present in RCM of H460 cells mobilized the nuclear translocation of PAR-4 (a proapoptotic protein).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 17, "end": 26}], "disease": [{"text": "translocation", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "MicroRNA-195 inhibits proliferation, invasion and metastasis in breast cancer cells by targeting FASN, HMGCR, ACACA and CYP27B1.", "output": {"entities": {"gene": [{"text": "HMGCR", "start": 103, "end": 108}], "disease": [{"text": "metastasis", "start": 50, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "HMGA1a expression was induced by hypoxia and the protein was accumulated in the nuclear speckles with the endogenous splicing factor SC35.", "output": {"entities": {"gene": [{"text": "splicing factor SC35", "start": 117, "end": 137}], "disease": [{"text": "hypoxia", "start": 33, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Loss of function of FMR1 is a model for neurodevelopmental and behavioural disorders, including mental retardation, autism, anxiety, and mood instability.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 20, "end": 24}], "disease": [{"text": "mood instability", "start": 137, "end": 153}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FMR1", "start": 20, "end": 24}, "tail": {"text": "mood instability", "start": 137, "end": 153}}]}}, "schema": []}
{"input": "We investigated the possibility that a proportion of children with sporadic rhabdomyosarcoma (RMS) carry constitutional mutations of the p53 tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "p53 tumor suppressor gene", "start": 137, "end": 162}], "disease": [{"text": "sporadic", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "However, no differences in allele or genotype frequencies were detected between sporadic CRC cases and controls, and no associations were observed for SLC10A2, TP53, and VDR polymorphisms.", "output": {"entities": {"gene": [{"text": "TP53", "start": 160, "end": 164}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "CRP, fibrinogen, vWF, factor VIII and liver parameters were highly and positively correlated.", "output": {"entities": {"gene": [{"text": "factor VIII", "start": 22, "end": 33}], "disease": [{"text": "fibrinogen", "start": 5, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "Among children with celiac disease the most frequent and significant haplotypes were A1/B8, A9/B5, A19/B12, A28/B22, A28/Cw1, A9/DQ3, B8/Cw7, B18/Cw5, B22/Cw1, B5/DR5, B8/DR3, B12/DR7, B5/DQ3, DR3/DQ2, DR4/DQ8 (3) and DR5/DQ3, showing a positive linkage disequilibrium.", "output": {"entities": {"gene": [{"text": "DR4", "start": 202, "end": 205}], "disease": [{"text": "celiac disease", "start": 20, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "We recommend sequencing the TIMM8a gene, thorough ophthalmological examination, and measuring visual evoked potentials in clinically suspected male patients with either progressive hearing impairment, dystonia, or visual disability in order to establish an early diagnosis and provide appropriate genetic counselling.", "output": {"entities": {"gene": [{"text": "TIMM8a gene", "start": 28, "end": 39}], "disease": [{"text": "progressive hearing impairment", "start": 169, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.", "output": {"entities": {"gene": [{"text": "SOS1", "start": 82, "end": 86}], "disease": [{"text": "normal cognition", "start": 119, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Cell death involved activation of extracellular signal-related kinase (ERK), which in turn activated caspase 3 and ataxia telangiectasia and Rad3-related (ATR), both of which contributed to cytotoxicity.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 101, "end": 110}], "disease": [{"text": "telangiectasia", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The expression of NS, EGF and EGFR mRNA was determined in paired normal esophageal and ESCC tissues of 62 patients using in situ hybridization.", "output": {"entities": {"gene": [{"text": "EGF", "start": 22, "end": 25}], "disease": [{"text": "esophageal", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The polymorphism of IL-12 as well as IL-6 and IL-2 genes may contribute to susceptibility and pathogenesis of TA by altering cytokine production and inducing inflammation.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 46, "end": 50}], "disease": [{"text": "inflammation", "start": 158, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "An increase of OLFM-4 mRNA was observed in the endometrium of endometriosis patients.", "output": {"entities": {"gene": [{"text": "OLFM-4", "start": 15, "end": 21}], "disease": [{"text": "endometriosis", "start": 62, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OLFM-4", "start": 15, "end": 21}, "tail": {"text": "endometriosis", "start": 62, "end": 75}}]}}, "schema": []}
{"input": "In these Chinese patients, variants in GUCY2D are the most common cause of LCA (16. 1% cases), followed by CRB1 (11. 5%), RPGRIP1 (8%), RPE65 (5. 7%), SPATA7 (4. 6%), CEP290 (4. 6%), CRX (3. 4%), LCA5 (2. 3%), MERTK (2. 3%), AIPL1 (1. 1%), and RDH12 (1. 1%).", "output": {"entities": {"gene": [{"text": "GUCY2D", "start": 39, "end": 45}], "disease": [{"text": "LCA", "start": 75, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GUCY2D", "start": 39, "end": 45}, "tail": {"text": "LCA", "start": 75, "end": 78}}]}}, "schema": []}
{"input": "Treatment of malignant, non-resectable, epithelial origin esophageal tumours with the humanized anti-epidermal growth factor antibody nimotuzumab combined with radiation therapy and chemotherapy.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 101, "end": 124}], "disease": [{"text": "esophageal", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The surface antigen expression of oMSCs was consistent with that of MSCs; they lacked the hematopoietic and common leukocyte markers (CD34, CD45) while expressing those related to adhesion (CD29, CD166, CD44) and stem cells (CD90, CD105, CD73).", "output": {"entities": {"gene": [{"text": "CD166", "start": 196, "end": 201}], "disease": [{"text": "adhesion", "start": 180, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "Biochemical characterizations of mucin produced by adenocarcinoma cells were focused on one of the cell lines, CL2 cells, which showed the most prominent reactivity with mucin-specific monoclonal antibody.", "output": {"entities": {"gene": [{"text": "CL2", "start": 111, "end": 114}], "disease": [{"text": "adenocarcinoma", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The main goal of this work is to investigate the killing effects and molecular mechanism of photodynamic therapy (PDT) mediated by the Ad5/F35-APE1 siRNA recombinant adenovirus in combination with a hematoporphrphyrin derivative (HpD) in the A549 human lung adenocarcinoma cell line in vitro to provide a theoretical reference for treating lung cancer by HpD-PDT.", "output": {"entities": {"gene": [{"text": "APE1", "start": 143, "end": 147}], "disease": [{"text": "adenovirus", "start": 166, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "SP1 was detected in 56/100 (56%) samples in levels that correlated with the overall viral load.", "output": {"entities": {"gene": [{"text": "SP1", "start": 0, "end": 3}], "disease": [{"text": "viral load", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The classical AH8. 1 (HLA-A1-B8-DR3-DQ2) is the most common Caucasian haplotype, associated with several autoimmune diseases, immunologic hyperreactivity and rapid progression to the acquired immunodeficiency syndrome.", "output": {"entities": {"gene": [{"text": "DR3", "start": 32, "end": 35}], "disease": [{"text": "immunodeficiency syndrome", "start": 192, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The mutation pattern was compared with data from sporadic sarcomas recorded in the IARC TP53 somatic mutations database.", "output": {"entities": {"gene": [{"text": "TP53", "start": 88, "end": 92}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Renal sodium retention in liver cirrhosis, nephrotic syndrome and hypoxia have been linked to 11beta-HSD2 reduced activity.", "output": {"entities": {"gene": [{"text": "HSD2", "start": 101, "end": 105}], "disease": [{"text": "liver cirrhosis", "start": 26, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HSD2", "start": 101, "end": 105}, "tail": {"text": "liver cirrhosis", "start": 26, "end": 41}}]}}, "schema": []}
{"input": "Variants near CHRNB3-CHRNA6 are associated with DSM-5 cocaine use disorder: evidence for pleiotropy.", "output": {"entities": {"gene": [{"text": "CHRNA6", "start": 21, "end": 27}], "disease": [{"text": "cocaine use", "start": 54, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNA6", "start": 21, "end": 27}, "tail": {"text": "cocaine use", "start": 54, "end": 65}}]}}, "schema": []}
{"input": "Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA.", "output": {"entities": {"gene": [{"text": "PTPN22", "start": 29, "end": 35}], "disease": [{"text": "GCA", "start": 112, "end": 115}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTPN22", "start": 29, "end": 35}, "tail": {"text": "GCA", "start": 112, "end": 115}}]}}, "schema": []}
{"input": "Moreover, B-CLL cells formed podosomes upon adhesion to FN-H89, VCAM-1, or fibronectin; MMP-9 localized to podosomes in a PI3-K-dependent manner and degraded a fibronectin/gelatin matrix.", "output": {"entities": {"gene": [{"text": "PI3", "start": 122, "end": 125}], "disease": [{"text": "adhesion", "start": 44, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Studies in mice revealed that LTCCs indirectly also contribute to neurological symptoms in Ca2 + channelopathies affecting non-LTCCs, such as Cav2. 1 alpha1 in tottering mice.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 91, "end": 94}], "disease": [{"text": "channelopathies", "start": 97, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Collagen & #8197; I & #8197; and IGF-1 expression was increased, and SIRT1 expression was decreased (0. 67 & #177; 0. 04 vs 1. 05 & #177; 0. 07, P & lt; 0. 001) in TNBS-induced colitis compared with the control group.", "output": {"entities": {"gene": [{"text": "IGF-1", "start": 33, "end": 38}], "disease": [{"text": "colitis", "start": 177, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IGF-1", "start": 33, "end": 38}, "tail": {"text": "colitis", "start": 177, "end": 184}}]}}, "schema": []}
{"input": "The recently discovered dendritic cell nuclear protein-1 is the product of a novel candidate gene for major depression.", "output": {"entities": {"gene": [{"text": "dendritic cell nuclear protein-1", "start": 24, "end": 56}], "disease": [{"text": "major depression", "start": 102, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "dendritic cell nuclear protein-1", "start": 24, "end": 56}, "tail": {"text": "major depression", "start": 102, "end": 118}}]}}, "schema": []}
{"input": "Therefore, we studied the induction of Th1 (TNF-alpha, IFN-gamma, IL-1beta and IL-2), Th2 (IL-4), IL-10 cytokines and adhesion molecule sICAM-1 in the lymphocytes isolated from symptomatic and asymptomatic NCC cases by stimulating them with Taenia solium cyst fluid antigens.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 79, "end": 83}], "disease": [{"text": "asymptomatic", "start": 193, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "This finding is consistent with the hypothesis that whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype.", "output": {"entities": {"gene": [{"text": "DOK7", "start": 79, "end": 83}], "disease": [{"text": "fetal akinesia", "start": 178, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DOK7", "start": 79, "end": 83}, "tail": {"text": "fetal akinesia", "start": 178, "end": 192}}]}}, "schema": []}
{"input": "Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.", "output": {"entities": {"gene": [{"text": "RDX", "start": 83, "end": 86}], "disease": [{"text": "Nonsyndromic Hearing Impairment", "start": 20, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RDX", "start": 83, "end": 86}, "tail": {"text": "Nonsyndromic Hearing Impairment", "start": 20, "end": 51}}]}}, "schema": []}
{"input": "BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 10, "end": 15}], "disease": [{"text": "familial breast cancer", "start": 53, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 10, "end": 15}, "tail": {"text": "familial breast cancer", "start": 53, "end": 75}}]}}, "schema": []}
{"input": "Three of 259 patients (1%) with ARM and 2 of 28 patients (7%) with other maculopathies including 1 of 3 patients with adult-onset foveomacular vitelliform dystrophy and 1 of 5 patients with a bull' s eye maculopathy, but none of the controls, were found to possess amino acid-changing variants in the VMD2 gene.", "output": {"entities": {"gene": [{"text": "VMD2 gene", "start": 301, "end": 310}], "disease": [{"text": "bull' s eye maculopathy", "start": 192, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "We generated a plasmid using adenovirus to express HRP isoenzyme C (HRPC) with the HCC marker, alpha-fetoprotein (AFP), as the promoter (pAdv-AFP-HRPC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 83, "end": 86}], "disease": [{"text": "adenovirus", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "These include STARS, a hypertrophy-responsive gene; SNF1-kinase, a potential modulator of ATP levels; and AXUD1, a downstream target of the proapoptotic regulator AXIN1.", "output": {"entities": {"gene": [{"text": "AXIN1", "start": 163, "end": 168}], "disease": [{"text": "hypertrophy", "start": 23, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Using a two-stage case-control design, we searched for pairwise interactions between cigarette smoking and alcohol intake respectively with 9 single nucleotide polymorphisms (SNPs) at ERAP1, PTTG1, CSMD1, GJB2, SERPINB8, ZNF816A and TNIP1/ANXA6 that have been associated with risk for psoriasis in 7, 223 subjects.", "output": {"entities": {"gene": [{"text": "ERAP1", "start": 184, "end": 189}], "disease": [{"text": "alcohol intake", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "CEACAM1 is a known tumor suppressor that regulates apoptosis in colon cells, and its loss is one of the most frequent events in early tumorigenesis of CRC.", "output": {"entities": {"gene": [{"text": "CEACAM1", "start": 0, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Valproic acid reduces neuritic plaque formation and improves learning deficits in APP (Swe)/PS1 (A246E) transgenic mice via preventing the prenatal hypoxia-induced down-regulation of neprilysin.", "output": {"entities": {"gene": [{"text": "APP", "start": 82, "end": 85}], "disease": [{"text": "hypoxia", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "The main purpose of this study was to establish the prognostic value, if any, of terminal transferase (TdT) expression in myeloid leukaemia.", "output": {"entities": {"gene": [{"text": "terminal transferase", "start": 81, "end": 101}], "disease": [{"text": "myeloid leukaemia", "start": 122, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR).", "output": {"entities": {"gene": [{"text": "VLDLR", "start": 299, "end": 304}], "disease": [{"text": "progressive cerebellar ataxia", "start": 89, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The weight of adult mutant mice is approximately half that of littermate controls, and serum IGF-I is reduced.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 93, "end": 98}], "disease": [{"text": "weight", "start": 4, "end": 10}]}, "relations": {}}, "schema": []}
{"input": "We systematically investigated the association of 48 SNPS in four vitamin D metabolizing genes [CYP27A1, GC, CYP27B1 and CYP24A1] with serum 25-hydroxyvitamin D [25 (OH) D] and 1, 25-dihydroxyvitamin D [1, 25 (OH) (2) D] levels and the association of these SNPS and an additional 164 SNPS in eight downstream mediators of vitamin D signaling [VDR, RXRA, RXRB, PPAR, NCOA1, NCOA2, NCOA3 and SMAD3] with prostate cancer risk in the 749 incident prostate cancer cases and 781 controls of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial.", "output": {"entities": {"gene": [{"text": "RXRB", "start": 354, "end": 358}], "disease": [{"text": "prostate cancer", "start": 402, "end": 417}]}, "relations": {}}, "schema": []}
{"input": "Our results show that aneuploid tumors, EZH2 expression and paxillin expression correlate with more aggressive phenotype of breast cancer.", "output": {"entities": {"gene": [{"text": "EZH2", "start": 40, "end": 44}], "disease": [{"text": "aneuploid", "start": 22, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Among active smokers more than 20 pack-years of smoking was associated with an OR of 1. 34 (95% CI 0. 92-1. 96); more elevated among NAT2 fast acetylators OR 1. 93 (95% CI 1. 01-3. 69) but not elevated among NAT2 slow acetylators.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 133, "end": 137}], "disease": [{"text": "smoking", "start": 48, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis of early passage COX2 transfected MCF7 cells demonstrated significant genomic instability as compared to parental MCF7 cells.", "output": {"entities": {"gene": [{"text": "COX2", "start": 38, "end": 42}], "disease": [{"text": "genomic instability", "start": 91, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that pulmonary overexpression of prostacyclin synthase may prevent the development of murine lung tumors.", "output": {"entities": {"gene": [{"text": "prostacyclin synthase", "start": 49, "end": 70}], "disease": [{"text": "lung tumors", "start": 109, "end": 120}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "prostacyclin synthase", "start": 49, "end": 70}, "tail": {"text": "lung tumors", "start": 109, "end": 120}}]}}, "schema": []}
{"input": "We have previously shown the implication of the multifunctional protein SPARC (Secreted protein acidic and rich in cysteine)/osteonectin in insulin resistance but potential effects on beta-cell function have not been assessed.", "output": {"entities": {"gene": [{"text": "osteonectin", "start": 125, "end": 136}], "disease": [{"text": "insulin resistance", "start": 140, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In order to assess the role of these genes in sporadic RER + colorectal carcinoma, we have carried out a mutation analysis of MSH2 and MLH1 by two-dimensional (2-D) DNA electrophoresis, including heteroduplexing and separation in a denaturing gradient.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 126, "end": 130}], "disease": [{"text": "sporadic", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.", "output": {"entities": {"gene": [{"text": "PFKM", "start": 124, "end": 128}], "disease": [{"text": "phosphofructokinase deficiency", "start": 21, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PFKM", "start": 124, "end": 128}, "tail": {"text": "phosphofructokinase deficiency", "start": 21, "end": 51}}]}}, "schema": []}
{"input": "Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease.", "output": {"entities": {"gene": [{"text": "dihydrolipoamide branched-chain transacylase", "start": 22, "end": 66}], "disease": [{"text": "motor dysfunction", "start": 81, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "By contrast, 7/57 patients with food allergy (12%) and 6/102 subjects with eczema (6%) carried the TLR-4 mutation.", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 99, "end": 104}], "disease": [{"text": "food allergy", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "ANXA3 was also associated with susceptibility to systemic lupus erythematosus (P = 0. 0040), and B3GNT2 and ARID5B were associated with Graves' disease (P = 3. 5 & #215; 10 (-4) and 2. 9 & #215; 10 (-4), respectively).", "output": {"entities": {"gene": [{"text": "ANXA3", "start": 0, "end": 5}], "disease": [{"text": "systemic lupus erythematosus", "start": 49, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANXA3", "start": 0, "end": 5}, "tail": {"text": "systemic lupus erythematosus", "start": 49, "end": 77}}]}}, "schema": []}
{"input": "A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of the EGF gene (+ 61 A > G) may influence its expression and contribute to cancer predisposition and aggressiveness.", "output": {"entities": {"gene": [{"text": "EGF gene", "start": 87, "end": 95}], "disease": [{"text": "aggressiveness", "start": 182, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "For APOE epsilon4 carriers, only wake after sleep onset (WASO) increased in association with lower cognitive function as indicated by the Mini-Mental State Examination (MMSE); for non-epsilon4 subjects, increases in WASO and declines in total sleep time, sleep efficiency, and the amplitude of the rest/activity circadian rhythm over time were associated with lower performance on the MMSE.", "output": {"entities": {"gene": [{"text": "APOE", "start": 4, "end": 8}], "disease": [{"text": "circadian rhythm", "start": 312, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "Moreover, metabolite of HO-1, carbon monoxide (CO), also diminished ROS formation and EV71 replication which were reversed by pretreatment with a CO scavenger (hemoglobin) and a cyclic GMP-dependent protein kinase (PKG) inhibitor (KT5823).", "output": {"entities": {"gene": [{"text": "PKG", "start": 215, "end": 218}], "disease": [{"text": "hemoglobin", "start": 160, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "HBZ-Tg mice were more vulnerable to both infections than non-Tg mice.", "output": {"entities": {"gene": [{"text": "HBZ", "start": 0, "end": 3}], "disease": [{"text": "infections", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "TTV DNA was detected in 11 of 40 patients (27. 5%) with non-B, non-C chronic hepatitis, 13 of 46 patients (28. 3%) with type B chronic hepatitis, 21 of 55 patients (38. 2%) with type C chronic hepatitis, and 41 of 131 subjects (31. 3%) with normal liver function tests.", "output": {"entities": {"gene": [{"text": "TTV", "start": 0, "end": 3}], "disease": [{"text": "chronic hepatitis", "start": 69, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "85 pediatric-and 117 adult-onset CD patients were tested for the three main NOD2 CD-associated variants (p. R702W, p. G908R and p. 10007fs) and clinical data of at least two years of follow-up were compared regarding disease behaviour and activity, response to therapy and bone mineral density (BMD).", "output": {"entities": {"gene": [{"text": "NOD2", "start": 76, "end": 80}], "disease": [{"text": "bone mineral density", "start": 273, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Reduced or absent NF1 gene expression was documented in 7 of these 20 tumors (35%) including 1 of 4 sporadic tumors, 3 of 10 tumors from patients with multiple endocrine neoplasia (MEN) 2A, 2 of 4 tumors from patients with MEN2B, and 1 of 2 tumors from patients with von Hippel-Lindau syndrome.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 18, "end": 26}], "disease": [{"text": "sporadic", "start": 100, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.", "output": {"entities": {"gene": [{"text": "CHD7", "start": 16, "end": 20}], "disease": [{"text": "chromosome translocation", "start": 87, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found that crizotinib induces apoptosis in colon cancer cells through the BH3-only protein PUMA.", "output": {"entities": {"gene": [{"text": "BH3-only protein", "start": 92, "end": 108}], "disease": [{"text": "colon cancer", "start": 61, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "As such, PLA2G5 tipped the immune balance toward an M2 state, thereby counteracting adipose tissue inflammation, insulin resistance, hyperlipidemia, and obesity.", "output": {"entities": {"gene": [{"text": "PLA2G5", "start": 9, "end": 15}], "disease": [{"text": "inflammation", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Western-blot was used to detect the expression of AQP4 in the border of the infarct region.", "output": {"entities": {"gene": [{"text": "AQP4", "start": 50, "end": 54}], "disease": [{"text": "infarct", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Examining a pathophysiological role of SgII in the initial phase of post-infarction HF, the SgII fragment secretoneurin reduced myocardial ischemia-reperfusion injury and cardiomyocyte apoptosis by 30% and rapidly increased cardiomyocyte Erk1/2 and Stat3 phosphorylation.", "output": {"entities": {"gene": [{"text": "Stat3", "start": 249, "end": 254}], "disease": [{"text": "infarction", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We assessed whether TNF gene polymorphism and plasma concentrations of TNF-alpha were related to the occurrence of ASP and septic shock from it.", "output": {"entities": {"gene": [{"text": "ASP", "start": 115, "end": 118}], "disease": [{"text": "septic shock", "start": 123, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Musashi1 (Msi1) is an evolutionarily conserved RNA-binding protein (RBP) that has profound implications in cellular processes such as stem cell maintenance, nervous system development, and tumorigenesis.", "output": {"entities": {"gene": [{"text": "RBP", "start": 68, "end": 71}], "disease": [{"text": "tumorigenesis", "start": 189, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation. A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 320, "end": 325}], "disease": [{"text": "RTT", "start": 0, "end": 3}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 320, "end": 325}, "tail": {"text": "RTT", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "Here, we report the identification of five rare de novo missense variants in DDX6 in probands presenting with intellectual disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, arched eyebrows, and low-set ears.", "output": {"entities": {"gene": [{"text": "DDX6", "start": 77, "end": 81}], "disease": [{"text": "developmental delay", "start": 135, "end": 154}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DDX6", "start": 77, "end": 81}, "tail": {"text": "developmental delay", "start": 135, "end": 154}}]}}, "schema": []}
{"input": "The present study examined the regulation of the major antiapoptotic (Bcl-2, Bcl-xl) and proapoptotic (Bax) genes by repeated unpredictable stress (an animal model of depression) and antidepressant treatments (ADT).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 70, "end": 75}], "disease": [{"text": "depression", "start": 167, "end": 177}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 70, "end": 75}, "tail": {"text": "depression", "start": 167, "end": 177}}]}}, "schema": []}
{"input": "Initial adhesion activates NF-kappaB, which led to IL-1 production.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 27, "end": 36}], "disease": [{"text": "adhesion", "start": 8, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The 5-HT1D alpha receptor was found to be expressed in two human glioma cell lines but not in normal astrocytes.", "output": {"entities": {"gene": [{"text": "5-HT1D", "start": 4, "end": 10}], "disease": [{"text": "glioma", "start": 65, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We studied the associations between 18 single nucleotide polymorphisms (SNPs) in CHRNA5-CHRNA3-CHRNB4 and systolic blood pressure (SBP), diastolic blood pressure (DBP), and body mass index (BMI) in 5402 young adults from the Northern Finland Birth Cohort 1966.", "output": {"entities": {"gene": [{"text": "DBP", "start": 163, "end": 166}], "disease": [{"text": "systolic blood pressure", "start": 106, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In univariate analysis ACE DD genotype significantly linked to grades IV and V reflux (p = 0. 007) rather than renal parenchymal damage (p = 0. 284).", "output": {"entities": {"gene": [{"text": "ACE", "start": 23, "end": 26}], "disease": [{"text": "reflux", "start": 79, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that the pattern of SFRP2 methylation may differ throughout the promoter during progressive tumorigenesis.", "output": {"entities": {"gene": [{"text": "SFRP2", "start": 36, "end": 41}], "disease": [{"text": "tumorigenesis", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Our study does not support a major contribution of the HCRTR2 G1246A polymorphism to the pathogenesis of migraine in contrast to its effects in cluster headache.", "output": {"entities": {"gene": [{"text": "HCRTR2", "start": 55, "end": 61}], "disease": [{"text": "migraine", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The promising therapeutic targets for osteosarcoma patients include: integrin, ezrin, statin, NOTCH/HES1, matrix metalloproteinases (MMPs), m-calpain, and Src, which are involved in tumor cell invasion and metastasis; aldolase A, fructose-bisphosphate, sulfotransferase family 3A, member 1, BCL2-associated athanogene 3, heat shock protein 70 (HSP70), B-cell lymphoma 2-interacting mediator (BIM), polo-like kinase 1, hypoxia inducible factor 1, alpha subunit, minibrain-related kinase, Bcl-xl, caspase-3, midkine, high mobility group box 1 protein (HMGB1), and Beclin1, which are involved in tumor proliferation and apoptosis; met proto-oncogene (hepatocyte growth factor receptor), v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, insulin-like growth factor (IGF)-1R, fms-related tyrosine kinase 4, platelet-derived growth factor receptor, beta polypeptide, IGF-I/II, and c-kit, which are involved in tumor growth; endosialin, VEGF, thrombin, and MMPs, which are involved in tumor angiogenesis; transforming growth factor-α/β, parathyroid hormone-like hormone, interleukin-6, interleukin-11, receptor activator of nuclear factor-κB ligand, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1, and cathepsin, which are involved in osteoclast function; Myc, HSP90, p-Met, p-Akt, p-STAT3, and cyclin D1, which are transcriptional factors; p-GP, hydroxysteroid (17-beta) dehydrogenase 10, HMGB1, BIM, inorganic phosphate, Bcl-2, PARP, mdm2, p21, Bax, and mitogen-activated protein kinase 1, which are involved in drug sensitivity.", "output": {"entities": {"gene": [{"text": "minibrain-related kinase", "start": 461, "end": 485}], "disease": [{"text": "tumor angiogenesis", "start": 987, "end": 1005}]}, "relations": {}}, "schema": []}
{"input": "USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction.", "output": {"entities": {"gene": [{"text": "USH2", "start": 39, "end": 43}], "disease": [{"text": "vestibular dysfunction", "start": 133, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Our observations suggest that MLH1 is mutated more frequently than MSH2 in sporadic colorectal cancers with microsatellite instability.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 67, "end": 71}], "disease": [{"text": "sporadic", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "WT showed increased expression of beta-MHC and ANF mRNAs in the hearts 1 day after Dox treatment; this expression peaked at 3 days, suggesting that the WT suffered from congestive heart failure.", "output": {"entities": {"gene": [{"text": "ANF", "start": 47, "end": 50}], "disease": [{"text": "congestive heart failure", "start": 169, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Thus HME is probably a genetically mosaic disease caused by gain of function in phosphatidylinositol 3-kinase (PI3K)-AKT3-mTOR signaling.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 111, "end": 115}], "disease": [{"text": "HME", "start": 5, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PI3K", "start": 111, "end": 115}, "tail": {"text": "HME", "start": 5, "end": 8}}]}}, "schema": []}
{"input": "We randomly assigned 418 previously untreated patients who had metastatic melanoma without a BRAF mutation to receive nivolumab (at a dose of 3 mg per kilogram of body weight every 2 weeks and dacarbazine-matched placebo every 3 weeks) or dacarbazine (at a dose of 1000 mg per square meter of body-surface area every 3 weeks and nivolumab-matched placebo every 2 weeks).", "output": {"entities": {"gene": [{"text": "BRAF", "start": 93, "end": 97}], "disease": [{"text": "body weight", "start": 163, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Reexpression of either of two of the silenced genes, HOXB13 and SYK, resulted in reduced colony formation in vitro and diminished tumor formation in vivo, indicating that these genes function as tumor suppressors in melanoma.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 53, "end": 59}], "disease": [{"text": "melanoma", "start": 216, "end": 224}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HOXB13", "start": 53, "end": 59}, "tail": {"text": "melanoma", "start": 216, "end": 224}}]}}, "schema": []}
{"input": "Our data also demonstrate that, among infertile men with varicocele, severely oligozoospermic and OAT men with varicocele have higher incidences of genetic defects than mildly oligozoospermic and azoospermic men.", "output": {"entities": {"gene": [{"text": "OAT", "start": 98, "end": 101}], "disease": [{"text": "infertile", "start": 38, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to investigate whether and at what stage hypermethylation of the tachykinin-1 (TAC1) gene is associated with human esophageal neoplastic transformation.", "output": {"entities": {"gene": [{"text": "TAC1", "start": 91, "end": 95}], "disease": [{"text": "esophageal", "start": 127, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "The most sensitive sites where application of SP into the NTS evoked dose-dependent hypotension and bradycardia were at the level of the posterior tip of the area postrema (zero level) and at the level of the obex.", "output": {"entities": {"gene": [{"text": "SP", "start": 46, "end": 48}], "disease": [{"text": "hypotension", "start": 84, "end": 95}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SP", "start": 46, "end": 48}, "tail": {"text": "hypotension", "start": 84, "end": 95}}]}}, "schema": []}
{"input": "A total of 96 sporadic serous tumors including 25 SBTs (11 atypical proliferative serous tumors and 14 intraepithelial low-grade serous carcinomas [noninvasive micropapillary serous carcinomas, MPSCs]), 12 low-grade serous carcinomas (invasive MPSCs), and 59 high-grade serous carcinomas were analyzed for their p53 mutational status of exons 5 to 9.", "output": {"entities": {"gene": [{"text": "p53", "start": 312, "end": 315}], "disease": [{"text": "sporadic", "start": 14, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p. N98S, p. N98I, p. D134H) and 2 subjects with clinical features of both LQTS and CPVT (p. D132E, p. Q136P).", "output": {"entities": {"gene": [{"text": "CALM2", "start": 52, "end": 57}], "disease": [{"text": "CPVT", "start": 166, "end": 170}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CALM2", "start": 52, "end": 57}, "tail": {"text": "CPVT", "start": 166, "end": 170}}]}}, "schema": []}
{"input": "The ability of simultaneously enforced expression of COP1 and constitutively active GSK3β to decrease c-Jun abundance in invasive breast cancer cells allowed us to conclude that c-Jun is negatively regulated through the coordinated action of COP1 and GSK3β.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 102, "end": 107}], "disease": [{"text": "invasive breast cancer", "start": 121, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "MPI and coronary angiography revealed that 15 patients had chest pain with true ischemia and reversible myocardial perfusion defects (multiple and mild) but normal epicardial coronary arteries (microvascular angina), while 15 patients had significant coronary artery disease (CAD), and 20 hypertensive patients showed normal perfusion scan and coronary angiography.", "output": {"entities": {"gene": [{"text": "MPI", "start": 0, "end": 3}], "disease": [{"text": "chest pain", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": ": The TOP-PUMA adenovirus inhibited AGS cell growth in a dose-and time-dependent fashion.", "output": {"entities": {"gene": [{"text": "TOP", "start": 6, "end": 9}], "disease": [{"text": "adenovirus", "start": 15, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "NGA can prevent SiO2-induced macrophage activation and apoptosis via HMGB1 inhibition and SiO2-induced fibrosis via the MCPIP1 pathway.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 69, "end": 74}], "disease": [{"text": "fibrosis", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "These results are promising, because they are relevant to developing a novel IL-27-based strategy that can treat both the tumor and the bone, by using this simple and effective sonodelivery method for treating prostate tumor bone metastases.", "output": {"entities": {"gene": [{"text": "IL-27", "start": 77, "end": 82}], "disease": [{"text": "prostate tumor", "start": 210, "end": 224}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-27", "start": 77, "end": 82}, "tail": {"text": "prostate tumor", "start": 210, "end": 224}}]}}, "schema": []}
{"input": "These findings suggest that the LRMP V141L polymorphism can predict survival in lung ADCA and that the role of LRMP and CASC1 in human lung cancer risk may differ from that in mice.", "output": {"entities": {"gene": [{"text": "ADCA", "start": 85, "end": 89}], "disease": [{"text": "lung cancer", "start": 135, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We propose that sigma-2/PGRMC1 is a key mediator of the pathological effects of Abeta oligomers in AD and is a tractable target for small molecule disease-modifying therapeutics.", "output": {"entities": {"gene": [{"text": "PGRMC1", "start": 24, "end": 30}], "disease": [{"text": "AD", "start": 99, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PGRMC1", "start": 24, "end": 30}, "tail": {"text": "AD", "start": 99, "end": 101}}]}}, "schema": []}
{"input": "SCD patients show higher level expression of both EKLF and PlGF mRNA in circulating blood cells, and markers of iron overload are associated with high PlGF and early mortality.", "output": {"entities": {"gene": [{"text": "EKLF", "start": 50, "end": 54}], "disease": [{"text": "iron overload", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms at the glutathione S-transferase, GSTP1 locus: a novel mechanism for susceptibility and development of atopic airway inflammation.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 48, "end": 53}], "disease": [{"text": "inflammation", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 42, "end": 47}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "An opposite effect was observed in the hippocampus, where CFA down-regulated NK-1 receptor and BDNF gene expression, phenomena previously observed in immobilization models of stress and depression.", "output": {"entities": {"gene": [{"text": "NK-1 receptor", "start": 77, "end": 90}], "disease": [{"text": "depression", "start": 186, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NK-1 receptor", "start": 77, "end": 90}, "tail": {"text": "depression", "start": 186, "end": 196}}]}}, "schema": []}
{"input": "These findings confirm the neoplastic nature of a subset IMT with ALK abnormalities and suggest that aneuploid IMT is a subset with more aggressive clinical behavior.", "output": {"entities": {"gene": [{"text": "ALK", "start": 66, "end": 69}], "disease": [{"text": "aneuploid", "start": 101, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome.", "output": {"entities": {"gene": [{"text": "TMEM67", "start": 106, "end": 112}], "disease": [{"text": "COACH syndrome", "start": 87, "end": 101}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMEM67", "start": 106, "end": 112}, "tail": {"text": "COACH syndrome", "start": 87, "end": 101}}]}}, "schema": []}
{"input": "Mutations in the NF2 gene were found in both sporadic meningiomas and vestibular schwannomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 17, "end": 25}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies.", "output": {"entities": {"gene": [{"text": "MRI", "start": 105, "end": 108}], "disease": [{"text": "brachycephaly", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Top-ranked endophenotypes included the Beck Depression Inventory, bilateral ventral diencephalon volume, and expression levels of the RNF123 transcript.", "output": {"entities": {"gene": [{"text": "RNF123", "start": 134, "end": 140}], "disease": [{"text": "Depression", "start": 44, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RNF123", "start": 134, "end": 140}, "tail": {"text": "Depression", "start": 44, "end": 54}}]}}, "schema": []}
{"input": "Interleukin-1 beta has potent OAF activity, can increase the expression of adhesion molecules, and can induce paracrine IL-6 production (see Fig.", "output": {"entities": {"gene": [{"text": "OAF", "start": 30, "end": 33}], "disease": [{"text": "adhesion", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the RET-GDNF signaling pathway in Ondine' s curse.", "output": {"entities": {"gene": [{"text": "RET", "start": 17, "end": 20}], "disease": [{"text": "Ondine' s curse", "start": 47, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 17, "end": 20}, "tail": {"text": "Ondine' s curse", "start": 47, "end": 62}}]}}, "schema": []}
{"input": "In addition, mutations in the Synaptotagmin 2 C2B domain represent an important cause of presynaptic congenital myasthenic syndromes and link them with hereditary motor axonopathies.", "output": {"entities": {"gene": [{"text": "Synaptotagmin 2", "start": 30, "end": 45}], "disease": [{"text": "presynaptic congenital myasthenic syndromes", "start": 89, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Synaptotagmin 2", "start": 30, "end": 45}, "tail": {"text": "presynaptic congenital myasthenic syndromes", "start": 89, "end": 132}}]}}, "schema": []}
{"input": "We generated transgenic mice that express a chimeric membrane protein consisting of hen egg lysozyme and a hemoglobin epitope tag under the control of the Clara cell secretory protein promoter, which largely limited transgene expression to the respiratory bronchioles.", "output": {"entities": {"gene": [{"text": "Clara cell secretory protein", "start": 155, "end": 183}], "disease": [{"text": "hemoglobin", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The disparate up-regulation of several genes in adult T-cell leukemia (ATL) versus HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP), seropositive carriers (SPC) and uninfected normals may reflect events at the molecular level related to leukemogenesis or to processes maintaining the heme-oncologic phenotype.", "output": {"entities": {"gene": [{"text": "SPC", "start": 175, "end": 178}], "disease": [{"text": "tropical spastic paraparesis", "start": 112, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Here we characterized TGF-beta3 signaling and the expression patterns of the critical extracellular matrix component versican in leiomyoma and myometrial tissue and cell culture.", "output": {"entities": {"gene": [{"text": "beta3", "start": 26, "end": 31}], "disease": [{"text": "leiomyoma", "start": 129, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The ratios of CTLA-4 (+)/CD28 (+) in miscarriage were significantly lower than that of the normal pregnancy both in the peripheral and in deciduas.", "output": {"entities": {"gene": [{"text": "CD28", "start": 25, "end": 29}], "disease": [{"text": "miscarriage", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "MRI best demonstrated the cerebellar lesion, revealing great uniformity amongst the cases.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "cerebellar lesion", "start": 26, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Steroidogenic acute regulatory protein (StAR) and the intramitochondrial translocation of cholesterol.", "output": {"entities": {"gene": [{"text": "Steroidogenic acute regulatory protein", "start": 0, "end": 38}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Amyloid precursor-like protein 2 (APLP2) has recently been implicated in the survival of cancer cells and in our current study, APLP2' s contribution to the survival of Ewing sarcoma cells was examined.", "output": {"entities": {"gene": [{"text": "APLP2' s", "start": 128, "end": 136}], "disease": [{"text": "sarcoma", "start": 175, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "The functional polymorphism Asn (107) Ile (rs324981, A > T) of the neuropeptide S receptor (NPSR1) gene is involved in the modulation of traits that affect alcohol use.", "output": {"entities": {"gene": [{"text": "neuropeptide S", "start": 67, "end": 81}], "disease": [{"text": "alcohol use", "start": 156, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Controls included seven cases of benign panniculitis and seven other peripheral T cell lymphomas involving the skin and subcutaneous tissues: two peripheral T cell lymphomas, not otherwise specified (PTL, NOS), four anaplastic large cell lymphomas (ALCL), one T/NK cell lymphoma.", "output": {"entities": {"gene": [{"text": "PTL", "start": 200, "end": 203}], "disease": [{"text": "lymphomas", "start": 87, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Defective epithelial repair in the setting of chronic lung disease has been suggested to contribute to uncontrolled extracellular matrix (ECM) deposition and development of fibrosis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 138, "end": 141}], "disease": [{"text": "fibrosis", "start": 173, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Loss of p27Kip1 enhances tumor progression in chronic hepatocyte injury-induced liver tumorigenesis with widely ranging effects on Cdk2 or Cdc2 activation.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 131, "end": 135}], "disease": [{"text": "tumorigenesis", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "No effect of MBL2 genotypes on the presence of diarrhoea, granuloma formation, lymphadenopathy, splenomegaly, frequency of respiratory tract infection or the number of antibiotic courses of the patients was observed.", "output": {"entities": {"gene": [{"text": "MBL2", "start": 13, "end": 17}], "disease": [{"text": "lymphadenopathy", "start": 79, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression level of an epigenetically regulated schizophrenia candidate gene GAD67 was strongly and negatively correlated with the mRNA expression levels of HDAC1, HDAC3 and HDAC4 levels.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 166, "end": 171}], "disease": [{"text": "schizophrenia", "start": 57, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC1", "start": 166, "end": 171}, "tail": {"text": "schizophrenia", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "The aim of this study was to analyse 99 HYP families for PEX gene mutations, and to correlate predicted changes in the protein structure with Zn2 + metallopeptidase gene function.", "output": {"entities": {"gene": [{"text": "PEX", "start": 57, "end": 60}], "disease": [{"text": "HYP", "start": 40, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PEX", "start": 57, "end": 60}, "tail": {"text": "HYP", "start": 40, "end": 43}}]}}, "schema": []}
{"input": "Our patient, carrying a partial deletion of the DGCR2 region and of the HDR1 region, including the GATA3 gene, showed, unexpectedly, only few of the clinical features of DiGeorge 2 syndrome (psychomotor retardation, palpebral ptosis, epicanthic folds, anteverted nares, cryptorchidism, hand/foot abnormalities) and did not show other typical signs, such as cardiac defect, cleft palate, and abnormal T cell levels.", "output": {"entities": {"gene": [{"text": "DGCR2", "start": 48, "end": 53}], "disease": [{"text": "cryptorchidism", "start": 270, "end": 284}]}, "relations": {}}, "schema": []}
{"input": "Ghrelin did not modify body weight or serum glucose, leptin or adiponectin, but increased total ghrelin (P < 0. 05), IGF-I (P < 0. 01) and prolactin (P < 0. 01) levels.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 117, "end": 122}], "disease": [{"text": "body weight", "start": 23, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Role of thymidine phosphorylase and orotate phosphoribosyltransferase mRNA expression and its ratio to dihydropyrimidine dehydrogenase in the prognosis and clinicopathological features of patients with pancreatic cancer.", "output": {"entities": {"gene": [{"text": "thymidine phosphorylase", "start": 8, "end": 31}], "disease": [{"text": "pancreatic cancer", "start": 202, "end": 219}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thymidine phosphorylase", "start": 8, "end": 31}, "tail": {"text": "pancreatic cancer", "start": 202, "end": 219}}]}}, "schema": []}
{"input": "Other important chemotherapy-related cardiac toxicities discussed include fluorouracil-induced angina and arrhythmias, interleukin-4 induced-cardiomyopathy, and cardiotoxicity associated with autologous bone marrow transplantation procedures.", "output": {"entities": {"gene": [{"text": "interleukin-4", "start": 119, "end": 132}], "disease": [{"text": "cardiomyopathy", "start": 141, "end": 155}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-4", "start": 119, "end": 132}, "tail": {"text": "cardiomyopathy", "start": 141, "end": 155}}]}}, "schema": []}
{"input": "Non-CpG G: C > A: T transitions in the 35 codons are rare in familial cancers (p53, BRCA1, or BRCA2-related), but frequent in sporadic cancers in organs where Li-Fraumeni-related carcinogenesis is common e. g.", "output": {"entities": {"gene": [{"text": "p53", "start": 79, "end": 82}], "disease": [{"text": "sporadic", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we report two children with novel homozygous missense mutations in the GDF5 gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c. 608C & #8201; & gt; & #8201; A, which predicts p. Thr203Asn) and the other was within the region coding for the active domain (c. 1456 G & #8201; & gt; & #8201; A, which predicts p. Val486Met).", "output": {"entities": {"gene": [{"text": "GDF5", "start": 86, "end": 90}], "disease": [{"text": "brachydactyly type C", "start": 112, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GDF5", "start": 86, "end": 90}, "tail": {"text": "brachydactyly type C", "start": 112, "end": 132}}]}}, "schema": []}
{"input": "Most of the melanoma markers used today are melanocytic markers or pigmentation pathway-associated genes driven by the microphthalmia transcription factor, MITF, and include among others, tyrosinase, dopachrome tautomerase, DCT, melan-A and S100B.", "output": {"entities": {"gene": [{"text": "DCT", "start": 224, "end": 227}], "disease": [{"text": "pigmentation", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "It was also observed that the expressions of putative ovarian cancer stem cell markers, CD133 and CD44 were induced under hypoxia.", "output": {"entities": {"gene": [{"text": "CD44", "start": 98, "end": 102}], "disease": [{"text": "hypoxia", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "While head injury alone was not associated with PD risk, our data suggest head injury may initiate and/or accelerate neurodegeneration when levels of synuclein are high, as in those with Rep1 expansion.", "output": {"entities": {"gene": [{"text": "Rep1", "start": 187, "end": 191}], "disease": [{"text": "neurodegeneration", "start": 117, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of MYD88 signaling reduced IκBα and NF-κB p65 phosphorylation, as well as NF-κB nuclear staining, in Waldenström' s macroglobulinemia cells expressing MYD88 L265P.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 47, "end": 52}], "disease": [{"text": "macroglobulinemia", "start": 127, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Gene set enhancement analysis (GSEA) demonstrates that elevated MMP10 expression correlates with both cancer stem cell and tumor metastasis genomic signatures in human lung cancer.", "output": {"entities": {"gene": [{"text": "MMP10", "start": 64, "end": 69}], "disease": [{"text": "tumor metastasis", "start": 123, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP10", "start": 64, "end": 69}, "tail": {"text": "tumor metastasis", "start": 123, "end": 139}}]}}, "schema": []}
{"input": "A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.", "output": {"entities": {"gene": [{"text": "GPIX", "start": 126, "end": 130}], "disease": [{"text": "Bernard-Soulier syndrome", "start": 17, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPIX", "start": 126, "end": 130}, "tail": {"text": "Bernard-Soulier syndrome", "start": 17, "end": 41}}]}}, "schema": []}
{"input": "A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.", "output": {"entities": {"gene": [{"text": "calcium-sensing receptor", "start": 31, "end": 55}], "disease": [{"text": "autosomal dominant hypocalcemia", "start": 89, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "calcium-sensing receptor", "start": 31, "end": 55}, "tail": {"text": "autosomal dominant hypocalcemia", "start": 89, "end": 120}}]}}, "schema": []}
{"input": "The exaggerated response of HRC knockout mice to the induction of cardiac hypertrophy is consistent with a regulatory role for HRCBP in calcium handling in vivo and suggests that mutations in HRC, in combination with other genetic or environmental factors, might contribute to pathological hypertrophy and heart failure.", "output": {"entities": {"gene": [{"text": "HRC", "start": 28, "end": 31}], "disease": [{"text": "hypertrophy", "start": 74, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Thus, we show that GIT2 is an essential terminator of TLR signaling and that loss of GIT2 leads to uncontrolled inflammation and severe organ damage.", "output": {"entities": {"gene": [{"text": "GIT2", "start": 19, "end": 23}], "disease": [{"text": "inflammation", "start": 112, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the coding areas of the WNT10B gene, which is co-expressed with WNT10A during odontogenesis, and the WNT6 gene which is located at the same chromosomal locus as WNT10A in humans, do not contribute to the tooth agenesis phenotype.", "output": {"entities": {"gene": [{"text": "WNT6 gene", "start": 114, "end": 123}], "disease": [{"text": "tooth agenesis", "start": 217, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "We report that missense mutations in ZBTB20, residing within the 3q13. 31 microdeletion syndrome critical region, underlie Primrose syndrome.", "output": {"entities": {"gene": [{"text": "ZBTB20", "start": 37, "end": 43}], "disease": [{"text": "Primrose syndrome", "start": 123, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZBTB20", "start": 37, "end": 43}, "tail": {"text": "Primrose syndrome", "start": 123, "end": 140}}]}}, "schema": []}
{"input": "We studied the gene expression by quantitative reverse transcription polymerase chain reaction of TNFSF11 (RANKL), TNFSF11A (RANK), TNFRSF11B (OPG), CCL3 (MIP1A), CCL4 (MIP1B), PTHR1 (PTHrp), DKK1, CKS2, PSME2 and DHFR in purified, immunophenotypic FACS-sorted plasma cells from 171 newly diagnosed MM patients, 20 patients with monoclonal gammopathy of undetermined significance and 12 controls.", "output": {"entities": {"gene": [{"text": "PTHR1", "start": 177, "end": 182}], "disease": [{"text": "monoclonal gammopathy of undetermined significance", "start": 329, "end": 379}]}, "relations": {}}, "schema": []}
{"input": "The complex has been proposed to be involved in two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2; Online Mendelian Inheritance in Man (OMIM) 607473), and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR; OMIM 122700).", "output": {"entities": {"gene": [{"text": "VKCFD2", "start": 146, "end": 152}], "disease": [{"text": "warfarin resistance", "start": 259, "end": 278}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VKCFD2", "start": 146, "end": 152}, "tail": {"text": "warfarin resistance", "start": 259, "end": 278}}]}}, "schema": []}
{"input": "Poly (ADP-ribose) polymerases (PARPs) modify target proteins post-translationally with poly (ADP-ribose) (PAR) or mono (ADP-ribose) (MAR) using NAD (+) as substrate.", "output": {"entities": {"gene": [{"text": "PAR", "start": 31, "end": 34}], "disease": [{"text": "mono", "start": 114, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Both presented with recurrent otitis media and sinopulmonary infections, CD4 + T cell lymphopenia, and defective DCH skin test responses to recall T cell antigens.", "output": {"entities": {"gene": [{"text": "CD4", "start": 73, "end": 76}], "disease": [{"text": "recurrent otitis media", "start": 20, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We chose the insulinoma model, a paradigmatic example of well-differentiated pancreatic NETs, to study whether MENIN interferes with the expression of v-MAF musculoaponeurotic fibrosarcoma oncogene homologue A (MAFA), a master glucose-dependent transcription factor in differentiated β-cells.", "output": {"entities": {"gene": [{"text": "MAF", "start": 153, "end": 156}], "disease": [{"text": "insulinoma", "start": 13, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Involvement of MMP-9, uPAR and cathepsin B in adhesion, migration, invasion, proliferation, metastasis and tumor growth has been well established.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 31, "end": 42}], "disease": [{"text": "adhesion", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "There was no association between PON1 Q192R and either self-report of pregnancy-induced hypertension or gestational hyperglycaemia but the prevalence of reporting having a preterm birth increased with each R allele: per allele odds ratio 1. 20 [95% confidence interval (CI) 1. 03, 1. 41].", "output": {"entities": {"gene": [{"text": "PON1", "start": 33, "end": 37}], "disease": [{"text": "preterm birth", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Physical inactivity, large body mass index, cigarette smoking, using aspirin/nonsteroidal anti-inflammatory drugs, and other dietary factors appeared to be comparably associated with colon cancer in those with and without p53 mutations.", "output": {"entities": {"gene": [{"text": "p53", "start": 222, "end": 225}], "disease": [{"text": "body mass index", "start": 27, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle' s disease.", "output": {"entities": {"gene": [{"text": "myophosphorylase", "start": 52, "end": 68}], "disease": [{"text": "McArdle' s disease", "start": 100, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "myophosphorylase", "start": 52, "end": 68}, "tail": {"text": "McArdle' s disease", "start": 100, "end": 118}}]}}, "schema": []}
{"input": "The results of this study, combined with those of previous studies, suggest that factor VII may be a useful additional marker of the risk for ischemic heart disease and merits further investigation.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 81, "end": 91}], "disease": [{"text": "ischemic heart disease", "start": 142, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "One single nucleotide polymorphism (SNP) in the gene encoding P53 (Arg72Pro, RS1042522), one dinucleotide polymorphism (G4C14-to-A4T14, RS 2273953, RS1801173) in the gene encoding P73, and two further SNPs in the same gene (-386 G/A, RS3765728; exon 5 T/C, RS1801174) were studied to determine whether DNA variations could influence the occurrence of the disease in a sample of Italian subjects with the sporadic late-onset form of AD.", "output": {"entities": {"gene": [{"text": "P53", "start": 62, "end": 65}], "disease": [{"text": "sporadic", "start": 404, "end": 412}]}, "relations": {}}, "schema": []}
{"input": "The resultant cancers share several features and differences with lung cancers containing sporadic EGFR mutations.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 99, "end": 103}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Recent work has shown that orthostatic intolerance is influenced by endothelial nitric oxide synthase gene polymorphisms.", "output": {"entities": {"gene": [{"text": "endothelial nitric oxide synthase", "start": 68, "end": 101}], "disease": [{"text": "orthostatic intolerance", "start": 27, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The mRNA expression level of an epigenetically regulated schizophrenia candidate gene GAD67 was strongly and negatively correlated with the mRNA expression levels of HDAC1, HDAC3 and HDAC4 levels.", "output": {"entities": {"gene": [{"text": "HDAC3", "start": 173, "end": 178}], "disease": [{"text": "schizophrenia", "start": 57, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC3", "start": 173, "end": 178}, "tail": {"text": "schizophrenia", "start": 57, "end": 70}}]}}, "schema": []}
{"input": "Finally, we showed that eye-specific expression of APP induced retina degeneration and cell cycle re-entry, both phenotypes were mildly ameliorated by loss of Polo.", "output": {"entities": {"gene": [{"text": "APP", "start": 51, "end": 54}], "disease": [{"text": "retina degeneration", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the genes encoding subunit polypeptides of the alpha 6 beta 4 integrin (ITGA6 and ITGB4) have been demonstrated in EB-PA patients.", "output": {"entities": {"gene": [{"text": "ITGB4", "start": 95, "end": 100}], "disease": [{"text": "EB-PA", "start": 128, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB4", "start": 95, "end": 100}, "tail": {"text": "EB-PA", "start": 128, "end": 133}}]}}, "schema": []}
{"input": "Mutations in dysferlin result in limb girdle muscular dystrophy type 2B and Miyoshi myopathy.", "output": {"entities": {"gene": [{"text": "dysferlin", "start": 13, "end": 22}], "disease": [{"text": "limb girdle muscular dystrophy type 2B", "start": 33, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dysferlin", "start": 13, "end": 22}, "tail": {"text": "limb girdle muscular dystrophy type 2B", "start": 33, "end": 71}}]}}, "schema": []}
{"input": "NAT2 fast acetylator genotype is associated with an increased risk of lung cancer among never-smoking women in Taiwan.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In contrast to previous phenotyping studies, no relationship was found between NAT2 polymorphism and NIDDM or its complications such as nephropathy or neuropathy.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 79, "end": 83}], "disease": [{"text": "nephropathy", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Tolerance to autoimmune thyroiditis: (CD4 +) CD25 + regulatory T cells influence susceptibility but do not supersede MHC class II restriction.", "output": {"entities": {"gene": [{"text": "CD4", "start": 38, "end": 41}], "disease": [{"text": "thyroiditis", "start": 24, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "KCNT1 mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features.", "output": {"entities": {"gene": [{"text": "KCNT1", "start": 0, "end": 5}], "disease": [{"text": "ADNFLE", "start": 91, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNT1", "start": 0, "end": 5}, "tail": {"text": "ADNFLE", "start": 91, "end": 97}}]}}, "schema": []}
{"input": "AAT S or Z polymorphisms are present in 25% of persons with anxiety disorder and 42% of persons with bipolar disorder compared to 10% of control group without pre-existing affective disorder.", "output": {"entities": {"gene": [{"text": "AAT", "start": 0, "end": 3}], "disease": [{"text": "bipolar disorder", "start": 101, "end": 117}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AAT", "start": 0, "end": 3}, "tail": {"text": "bipolar disorder", "start": 101, "end": 117}}]}}, "schema": []}
{"input": "The study included five Hispanic women, one with HAD, two HIV-1-infected without cognitive impairment, and two seronegative controls.", "output": {"entities": {"gene": [{"text": "HAD", "start": 49, "end": 52}], "disease": [{"text": "cognitive impairment", "start": 81, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These observations indicate that NIK regulates proinflammatory responses of renal proximal tubular epithelial cells via mechanisms involving TRAF3 and suggest a role for NF-κB noncanonical pathway activation in modulating diabetes-induced inflammation in renal tubular epithelium.", "output": {"entities": {"gene": [{"text": "TRAF3", "start": 141, "end": 146}], "disease": [{"text": "diabetes", "start": 222, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "TRO activates two parallel pathways: I] EGFR/MEK1/2/ERK1/2 and II] NHE1 inhibition/cellular acidosis.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 45, "end": 49}], "disease": [{"text": "acidosis", "start": 92, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The observation of excess NMS in a 26-weeks'-gestation stillborn prompted us to screen the HRAS gene for mutation.", "output": {"entities": {"gene": [{"text": "HRAS gene", "start": 91, "end": 100}], "disease": [{"text": "stillborn", "start": 55, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Clear cell sarcoma (CCS) typically presents as a tumor in the deep soft tissue of extremities, but when centered in the dermis it may be confused with a melanocytic nevus, primary nodular or metastatic melanoma.", "output": {"entities": {"gene": [{"text": "CCS", "start": 20, "end": 23}], "disease": [{"text": "melanocytic nevus", "start": 153, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In a California population-based case-control study, we genotyped 421 infants born with an isolated cleft and 299 nonmal-formed controls for 2 NAT1 and 3 NAT2 single nucleotide polymorphisms Although smoking was independently associated with increased risks for both isolated cleft lip +/-cleft palate and isolated cleft palate, no independent associations were found for NAT1 1088 or 1095 genotypes or for NAT2 acetylator status.]", "output": {"entities": {"gene": [{"text": "NAT2", "start": 154, "end": 158}], "disease": [{"text": "smoking", "start": 200, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In the Caucasian population, patients affected by the most frequent forms of congenital muscular dystrophies (MDC) are commonly divided into two groups.", "output": {"entities": {"gene": [{"text": "MDC", "start": 110, "end": 113}], "disease": [{"text": "muscular dystrophies", "start": 88, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 28, "end": 32}], "disease": [{"text": "autosomal dominant macrothrombocytopenia with leukocyte inclusions", "start": 83, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 28, "end": 32}, "tail": {"text": "autosomal dominant macrothrombocytopenia with leukocyte inclusions", "start": 83, "end": 149}}]}}, "schema": []}
{"input": "Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.", "output": {"entities": {"gene": [{"text": "ATM", "start": 87, "end": 90}], "disease": [{"text": "Ataxia-telangiectasia", "start": 0, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 87, "end": 90}, "tail": {"text": "Ataxia-telangiectasia", "start": 0, "end": 21}}]}}, "schema": []}
{"input": "Stromal cell-derived factor 1 alpha (SDF-1alpha) and its receptor CXCR4 play important roles in the pathogenesis of human immunodeficiency virus type one (HIV-1)-associated dementia (HAD) by serving as a HIV-1 co-receptor and affecting cell migration, virus-mediated neurotoxicity, and neurodegeneration.", "output": {"entities": {"gene": [{"text": "HAD", "start": 183, "end": 186}], "disease": [{"text": "neurodegeneration", "start": 286, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "In obesity, reduction of adipose EFNB1 may accelerate the vicious cycle involved in adipose tissue inflammation.", "output": {"entities": {"gene": [{"text": "EFNB1", "start": 33, "end": 38}], "disease": [{"text": "obesity", "start": 3, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EFNB1", "start": 33, "end": 38}, "tail": {"text": "obesity", "start": 3, "end": 10}}]}}, "schema": []}
{"input": "[] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11. 2 microdeletion and a hemizygous SCARF2 mutation.", "output": {"entities": {"gene": [{"text": "SCARF2", "start": 145, "end": 151}], "disease": [{"text": "cataracts", "start": 51, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Genes expressed more abundantly in R + cells are associated with (1) tumour growth and metastasis including, betaigH3, mts1, igfbp5 protease, and mystique; (2) cell division, including cyclin A1 and cdk1; (3) signal transduction, including pkcdeltabp and lmw-ptp; and (4) metabolism including ATPase H + transporter and ferritin.", "output": {"entities": {"gene": [{"text": "mts1", "start": 119, "end": 123}], "disease": [{"text": "ptp", "start": 259, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Western blotting and immunohistochemistry of these cells indicated a fall in the expression level of E-cadherin and an increase in fibronectin expression after 48 h. PAR1 activation also induced significant increases in nuclear levels of the Snail which is a repressor of E-cadherin gene expression.", "output": {"entities": {"gene": [{"text": "PAR1", "start": 166, "end": 170}], "disease": [{"text": "fall", "start": 69, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "ADNP haploinsufficiency in mice, which results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal beclin1 and increased Bcl2 expression (mimicking schizophrenia and normal human aging).", "output": {"entities": {"gene": [{"text": "beclin1", "start": 142, "end": 149}], "disease": [{"text": "schizophrenia", "start": 191, "end": 204}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beclin1", "start": 142, "end": 149}, "tail": {"text": "schizophrenia", "start": 191, "end": 204}}]}}, "schema": []}
{"input": "The CYP1A1 * 2A polymorphism was found to have significant association with chronic obstructive pneumonopathy (p = 0. 045), peripheral circulatory problems (trend p = 0. 042), arteritis (p = 0. 022), allergies (trend p = 0. 046), hemorrhoids (trend p = 0. 026), allergic dermatitis (p = 0. 0016) and miscarriages (p = 0. 012).", "output": {"entities": {"gene": [{"text": "CYP1A1", "start": 4, "end": 10}], "disease": [{"text": "allergies", "start": 200, "end": 209}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A1", "start": 4, "end": 10}, "tail": {"text": "allergies", "start": 200, "end": 209}}]}}, "schema": []}
{"input": "COX-2 (PTGS2) gene methylation in epithelial, subepithelial lymphocyte and stromal tissue compartments in a spectrum of esophageal squamous neoplasia.", "output": {"entities": {"gene": [{"text": "PTGS2", "start": 7, "end": 12}], "disease": [{"text": "esophageal", "start": 120, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "eIF3f: a central regulator of the antagonism atrophy/hypertrophy in skeletal muscle.", "output": {"entities": {"gene": [{"text": "eIF3f", "start": 0, "end": 5}], "disease": [{"text": "atrophy", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Human salivary gland adenocarcinoma (SGT) cells were used in this study.", "output": {"entities": {"gene": [{"text": "SGT", "start": 37, "end": 40}], "disease": [{"text": "salivary gland adenocarcinoma", "start": 6, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "MATERIALS AND METHODS: We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.", "output": {"entities": {"gene": [{"text": "EDAR", "start": 107, "end": 111}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Exon by exon mutation analysis of FUCA1, the structural gene of alpha-l-fucosidase, has identified the mutation (s) in nearly all fucosidosis patients investigated.", "output": {"entities": {"gene": [{"text": "FUCA1", "start": 34, "end": 39}], "disease": [{"text": "fucosidosis", "start": 130, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FUCA1", "start": 34, "end": 39}, "tail": {"text": "fucosidosis", "start": 130, "end": 141}}]}}, "schema": []}
{"input": "For the in vivo study, rats harboring 9L brain tumors were inoculated with MSC-EGFP or MSC-CD.", "output": {"entities": {"gene": [{"text": "MSC", "start": 75, "end": 78}], "disease": [{"text": "brain tumors", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN).", "output": {"entities": {"gene": [{"text": "CHN", "start": 96, "end": 99}], "disease": [{"text": "congenital hypomyelinating neuropathy", "start": 57, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The use of replication-competent adenovirus deficient of the E1B gene coupled to an AFP-targeting strategy may be a safe and efficacious treatment for HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 151, "end": 154}], "disease": [{"text": "adenovirus", "start": 33, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "beta-amyloid precursor protein", "start": 86, "end": 116}], "disease": [{"text": "Alzheimer' s disease", "start": 126, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-amyloid precursor protein", "start": 86, "end": 116}, "tail": {"text": "Alzheimer' s disease", "start": 126, "end": 146}}]}}, "schema": []}
{"input": "Administration of SIS3 also attenuated EMT and invasion of HepG2 and BEL7402 cells during starvation.", "output": {"entities": {"gene": [{"text": "EMT", "start": 39, "end": 42}], "disease": [{"text": "starvation", "start": 90, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of Icmt significantly decreases the activation of both RhoA and Rac1; an increase in Rho GDP-dissociation inhibitor (RhoGDI) binding in the absence of methylation appears to contribute to this effect.", "output": {"entities": {"gene": [{"text": "Icmt", "start": 14, "end": 18}], "disease": [{"text": "dissociation", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Results of this study demonstrate the dependence of insulin-like growth binding proteins as well as IGF2BP3 and HTRA1 gene expressions in U87 glioma cells on ERN1 signaling enzyme function and hypoxia, indicating its participation in the regulation of metabolic and proliferative processes via IGF/INS receptors, because endoplasmic reticulum stress is an important component of tumor growth and metabolic diseases.", "output": {"entities": {"gene": [{"text": "HTRA1 gene", "start": 112, "end": 122}], "disease": [{"text": "hypoxia", "start": 193, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Indomethacin reduced PGE2 content in normal and tumor tissue with subsequently decreased IP, HPGD and PPARgamma receptor expression in both tumor and normal colon tissue, while subtype EP1-4 receptors were not significantly influenced by indomethacin treatment.", "output": {"entities": {"gene": [{"text": "EP1", "start": 185, "end": 188}], "disease": [{"text": "tumor", "start": 48, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "In a previous study, several HLA-B and HLA-C alleles and haplotypes were positively or negatively associated with the occurrence and prognosis of glioblastoma multiforme (GBM).", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 29, "end": 34}], "disease": [{"text": "glioblastoma multiforme", "start": 146, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The elevated expression of the prolactin receptor in carcinomas concomitant with several components of the mitogenic prolactin signaling pathway implicated prolactin/prolactin receptor/Stat5a/cyclin D1 in rat mammary gland malignancy.", "output": {"entities": {"gene": [{"text": "Stat5a", "start": 185, "end": 191}], "disease": [{"text": "carcinomas", "start": 53, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Stat5a", "start": 185, "end": 191}, "tail": {"text": "carcinomas", "start": 53, "end": 63}}]}}, "schema": []}
{"input": "Consequently, UCP gene transfer prevented muscle degeneration and autoamputation of ischemic limb.", "output": {"entities": {"gene": [{"text": "UCP", "start": 14, "end": 17}], "disease": [{"text": "autoamputation", "start": 66, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We investigated the phenotype of cells expressing messenger RNA encoding interleukin 4 (IL-4), IL-5, IL-2, and interferon gamma (IFN-gamma) in bronchoalveolar lavage (BAL) and bronchial biopsies (BX) from seven mild atopic asthmatic patients and nine nonasthmatic controls.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 88, "end": 92}], "disease": [{"text": "mild", "start": 211, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "We found no evidence of dual infections with HTLV-II among the seropositive asymptomatic persons or in patients with either ATL or HAM/TSP.", "output": {"entities": {"gene": [{"text": "TSP", "start": 135, "end": 138}], "disease": [{"text": "infections", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We determined the KIT and PDGFRA mutation status of 1, 105 unique GISTs using a combination of denaturing high-performance liquid chromatography and direct sequencing.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 26, "end": 32}], "disease": [{"text": "GIST", "start": 66, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PDGFRA", "start": 26, "end": 32}, "tail": {"text": "GIST", "start": 66, "end": 70}}]}}, "schema": []}
{"input": "Adenosine deaminase did not influence the control coronary flow, but significantly reduced autoregulation, hypoxic vasodilation, reactive hyperemia and functional adrenaline-induced hyperemia.", "output": {"entities": {"gene": [{"text": "Adenosine deaminase", "start": 0, "end": 19}], "disease": [{"text": "hyperemia", "start": 138, "end": 147}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Adenosine deaminase", "start": 0, "end": 19}, "tail": {"text": "hyperemia", "start": 138, "end": 147}}]}}, "schema": []}
{"input": "In a South African LQT1 founder population segregating KCNQ1-A341V, we correlated major cardiac events to resting heart rate (HR) and to baroreflex sensitivity (BRS) on and off beta-adrenergic blockers (BB).", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 55, "end": 60}], "disease": [{"text": "heart rate", "start": 114, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Underexpression and overexpression of Mthfr/MTHFR increase MTX-induced myelosuppression but have distinct effects on plasma homocysteine and nephrotoxicity.", "output": {"entities": {"gene": [{"text": "MTX", "start": 59, "end": 62}], "disease": [{"text": "myelosuppression", "start": 71, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Regenerating bile ductules at the interface of portal tracts and necrotic areas stained intensely for MDR1, MRP1, and MRP3.", "output": {"entities": {"gene": [{"text": "MRP1", "start": 108, "end": 112}], "disease": [{"text": "necrotic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We show that RKIP inhibits let-7 targets (HMGA2, BACH1) that in turn upregulate bone metastasis genes (MMP1, OPN, CXCR4).", "output": {"entities": {"gene": [{"text": "RKIP", "start": 13, "end": 17}], "disease": [{"text": "bone metastasis", "start": 80, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Giant axonal neuropathy (GAN; MIM 256850) is a severe childhood onset autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system.", "output": {"entities": {"gene": [{"text": "MIM", "start": 30, "end": 33}], "disease": [{"text": "childhood onset", "start": 54, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These observations suggest a protective role of the high activity ACP1 phenotypes against seizures in children.", "output": {"entities": {"gene": [{"text": "ACP1", "start": 66, "end": 70}], "disease": [{"text": "seizures", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "To observe the therapeutic effects of coexpression of Smad7 and uPA genes, the recombinant adenovirus were delivered into CCL4-induced fibrosis models.", "output": {"entities": {"gene": [{"text": "CCL4", "start": 122, "end": 126}], "disease": [{"text": "adenovirus", "start": 91, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Hence, HADH/ERAB was suggested to mediate the amyloid-induced neurodegeneration.", "output": {"entities": {"gene": [{"text": "HADH", "start": 7, "end": 11}], "disease": [{"text": "neurodegeneration", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We studied the MLH1 and MSH2 promoter methylation status in 29 presumably sporadic uterine endometrioid carcinomas (UECs), which had previously been characterized for the MSI phenotype and a subset for DNA MMR gene mutational status.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 24, "end": 28}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Functional characterization of two novel mutations in TTF-1/NKX2. 1 homeodomain in patients with benign hereditary chorea.", "output": {"entities": {"gene": [{"text": "TTF-1", "start": 54, "end": 59}], "disease": [{"text": "benign hereditary chorea", "start": 97, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTF-1", "start": 54, "end": 59}, "tail": {"text": "benign hereditary chorea", "start": 97, "end": 121}}]}}, "schema": []}
{"input": "Caffeine and halothane sensitivity of intracellular Ca2 + release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 52, "end": 55}], "disease": [{"text": "malignant hyperthermia", "start": 154, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "EWSR1-CREB1 is a novel translocation recently described in clear cell sarcoma of the GI tract.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 0, "end": 5}], "disease": [{"text": "translocation", "start": 23, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Phagocytosis of glioma cells by activated microglia was dependent on Siglec-h and its adapter molecule DAP12.", "output": {"entities": {"gene": [{"text": "DAP12", "start": 103, "end": 108}], "disease": [{"text": "glioma", "start": 16, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "The ratios of the consumed coagulation factors: FVIII of (86. 1 +/-1. 8)%, fibrinogen of (89. 6 +/-0. 6)%, vWF (55 +/-1. 4)%, TF (62 +/-2. 5)%.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 48, "end": 53}], "disease": [{"text": "fibrinogen", "start": 75, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "However, the serum concentration of PEDF, as measured by enzyme-linked immunosorbent assay, was decreased in patients with cirrhosis or HCC complicated by cirrhosis compared to healthy volunteers and patients with chronic hepatitis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 136, "end": 139}], "disease": [{"text": "chronic hepatitis", "start": 214, "end": 231}]}, "relations": {}}, "schema": []}
{"input": "Because recent genome-wide association (GWA) studies have linked a region of the 3'-UTR of IKZF1 with C-ALL susceptibility, we tested whether IKZF1 is associated with the autoimmune disease type 1 diabetes.", "output": {"entities": {"gene": [{"text": "UTR", "start": 84, "end": 87}], "disease": [{"text": "autoimmune disease", "start": 171, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Treatment of LX-2 cells with TRAIL decreased the active trimer formation of HSF1, increased the dephosphorylation of HSF1 (Ser (230)), and enhanced the translocation of HSF1 into cytosol.", "output": {"entities": {"gene": [{"text": "HSF1", "start": 76, "end": 80}], "disease": [{"text": "translocation", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.", "output": {"entities": {"gene": [{"text": "SKI", "start": 32, "end": 35}], "disease": [{"text": "SGS", "start": 106, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SKI", "start": 32, "end": 35}, "tail": {"text": "SGS", "start": 106, "end": 109}}]}}, "schema": []}
{"input": "After serum shock, both types of cells showed clear circadian expressions of Bmal1, Cry1, Cry2, Per1, Per2, Per3 and Rev-erbα mRNA; meanwhile the Clock mRNA show a rhythmic expression in plaque-derived SMCs but not in normal carotid VSMCs.", "output": {"entities": {"gene": [{"text": "Cry1", "start": 84, "end": 88}], "disease": [{"text": "shock", "start": 12, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "LDL-added platelets showed increased p38MAPK (+ 59%) and PKC (+ 51%) phosphorylation, p47 (phox) translocation to platelet membrane (+ 34%) and NOX2 activation (+ 30%), which were inhibited by ox-LDL receptor antagonists.", "output": {"entities": {"gene": [{"text": "NOX2", "start": 144, "end": 148}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "As a positional candidate we investigated SLC30A4 in the chromosome 15q15-linked schizophrenic phenotype periodic catatonia (MIM 605419), by means of a systematic mutation screening in affected individuals from exceptionally large pedigrees with perfect co-segregation of a chromosomal segment between marker D15S1042 and D15S659 in all affected individuals.", "output": {"entities": {"gene": [{"text": "MIM", "start": 125, "end": 128}], "disease": [{"text": "periodic catatonia", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that platelet aggregation and adhesion have been delayed in children with IDA; however, platelet function abnormalities are not associated with CD62P expression on platelet surface.", "output": {"entities": {"gene": [{"text": "CD62P", "start": 167, "end": 172}], "disease": [{"text": "abnormalities", "start": 129, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "METHODS: APOBEC3G variants were detected using real-time polymerase chain reaction in HIV-1-infected children from Pediatric AIDS Clinical Trials Group (PACTG) protocols P152 and P300 that evaluated the effectiveness of 3 mono-or dual-nucleoside reverse transcriptase inhibitor treatments.", "output": {"entities": {"gene": [{"text": "APOBEC3G", "start": 9, "end": 17}], "disease": [{"text": "mono", "start": 222, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "To comprehend the role of pyridoxal 5'-phosphate (PLP) in epilepsy or seizure, we investigated whether the expressions of two PLP synthetic enzymes (pyridoxal kinase, PLK; pyridoxine-5'-phosphate oxidase, PNPO) are altered in the hippocampus and whether changes in paired-pulse responses in the hippocampus are associated with altered PLP synthetic enzyme expressions following status epilepticus (SE).", "output": {"entities": {"gene": [{"text": "PLK", "start": 167, "end": 170}], "disease": [{"text": "epilepsy", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The PTB patients were categorized on the basis of their bacillary load as 3 +, 2 +, 1 +, negative and on the extent of lung involvement as having minimal, moderate, and far-advanced lung disease.", "output": {"entities": {"gene": [{"text": "PTB", "start": 4, "end": 7}], "disease": [{"text": "lung disease", "start": 182, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The absence of MyD88, but not combined blockade of IL-1β and IL-18 signaling, resulted in greater infectivity, as reflected by levels of RV in feces, intestinal lysates and viremia.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 15, "end": 20}], "disease": [{"text": "viremia", "start": 173, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Bacterial binding leads to CFTR-dependent bacterial internalization, initiation of NF-kappaB nuclear translocation, cellular desquamation, and eventual apoptosis of the infected cells, all of which are critical for innate immune resistance to infection with this pathogen.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 27, "end": 31}], "disease": [{"text": "desquamation", "start": 125, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Expression of these viral genes resulted in the development of malignant tumors in restricted tissues; in the case of the HBx transgenic mice, hepatocellular carcinomas and in the E1a/E1b transgenic mice, gastric carcinomas.", "output": {"entities": {"gene": [{"text": "E1b", "start": 184, "end": 187}], "disease": [{"text": "carcinomas", "start": 158, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Thus, SPRY4 is a tumor suppressor at 5q whose disruption contributes to a lethal AML subtype that appears to acquire RAS pathway activation through a loss of negative regulators.", "output": {"entities": {"gene": [{"text": "SPRY4", "start": 6, "end": 11}], "disease": [{"text": "AML", "start": 81, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPRY4", "start": 6, "end": 11}, "tail": {"text": "AML", "start": 81, "end": 84}}]}}, "schema": []}
{"input": "Genetic variation in the beta2 (ADRB2) and beta3 (ADRB3) adrenergic receptor genes are associated with obesity and insulin resistance.", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 50, "end": 55}], "disease": [{"text": "insulin resistance", "start": 115, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Ets-1 up-regulation is involved in the development of retinal neovascularization, and inhibition of Ets-1 may be beneficial in the treatment of ischemic ocular diseases.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 0, "end": 5}], "disease": [{"text": "retinal neovascularization", "start": 54, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In this study, we have identified an autosomal dominant GPR54 mutation--the substitution of proline for arginine at codon 386 (Arg386Pro)--in an adopted girl with idiopathic central precocious puberty (whose biologic family was not available for genetic studies).", "output": {"entities": {"gene": [{"text": "GPR54", "start": 56, "end": 61}], "disease": [{"text": "idiopathic central precocious puberty", "start": 163, "end": 200}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR54", "start": 56, "end": 61}, "tail": {"text": "idiopathic central precocious puberty", "start": 163, "end": 200}}]}}, "schema": []}
{"input": "Glucose metabolism, insulin sensitivity, and gene expression of key adipocyte genes, including adiponectin, interleukin 6 (Il6), 11 beta-hydroxysteroid dehydrogenase (11beta Hsd), peroxisome proliferator-activated receptor gamma (Ppar gamma), forkhead box O1 (Foxo1), glucose transporter 4 (Glut4), CCAAT/enhancer binding protein (C/ebp alpha), and fatty acid synthase (Fasn) were characterized in adipocytes from epididymal and subcutaneous fat depots of 28-week-old male WOKW rats and Dark Agouti (DA) controls.", "output": {"entities": {"gene": [{"text": "Foxo1", "start": 260, "end": 265}], "disease": [{"text": "insulin sensitivity", "start": 20, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The inhibitory role of miR-214 in cervical cancer cells through directly targeting mitochondrial transcription factor A (TFAM).", "output": {"entities": {"gene": [{"text": "TFAM", "start": 121, "end": 125}], "disease": [{"text": "cervical cancer", "start": 34, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "MUC5B promoter polymorphism and interstitial lung abnormalities.", "output": {"entities": {"gene": [{"text": "MUC5B", "start": 0, "end": 5}], "disease": [{"text": "abnormalities", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In contrast, animals infected with viruses with STAT2 or mda5 defect or both STAT2 and mda5 defects developed a mild self-limiting disease similar to that associated with the V-knockout virus.", "output": {"entities": {"gene": [{"text": "STAT2", "start": 48, "end": 53}], "disease": [{"text": "mild", "start": 112, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Odds ratios for carrying the mutation were 7. 6 and 3 in FAD and sporadic AD cases, respectively.", "output": {"entities": {"gene": [{"text": "FAD", "start": 57, "end": 60}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.", "output": {"entities": {"gene": [{"text": "TGFB1", "start": 0, "end": 5}], "disease": [{"text": "Camurati-Engelmann disease", "start": 42, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFB1", "start": 0, "end": 5}, "tail": {"text": "Camurati-Engelmann disease", "start": 42, "end": 68}}]}}, "schema": []}
{"input": "These results indicate that TG mice overexpressing H-PGDS abundantly produced PGD (2) in adipose tissues, resulting in pronounced adipogenesis and increased insulin sensitivity.", "output": {"entities": {"gene": [{"text": "H-PGDS", "start": 51, "end": 57}], "disease": [{"text": "insulin sensitivity", "start": 157, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Sixty-two CHEK2 1100delC MBC patients were selected from three cohorts genotyped for CHEK2 1100delC (one non-BRCA1/2 cohort and two sporadic cohorts).", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 10, "end": 15}], "disease": [{"text": "sporadic", "start": 132, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Higher expression of PLA2G2A, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B endometriosis cells compared to HIESC control cells.", "output": {"entities": {"gene": [{"text": "ABCC4", "start": 56, "end": 61}], "disease": [{"text": "endometriosis", "start": 79, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCC4", "start": 56, "end": 61}, "tail": {"text": "endometriosis", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "To investigate the in vivo effects of simvastatin in RANKL-treated mice, we examined the bone mineral density (BMD) of a mouse model of bone loss, and found that simvastatin significantly reduced bone loss by suppressing osteoclast numbers in vivo, even in the presence of high concentrations of RANKL.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 53, "end": 58}], "disease": [{"text": "bone mineral density", "start": 89, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.", "output": {"entities": {"gene": [{"text": "FLNA", "start": 137, "end": 141}], "disease": [{"text": "OPD1", "start": 103, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLNA", "start": 137, "end": 141}, "tail": {"text": "OPD1", "start": 103, "end": 107}}]}}, "schema": []}
{"input": "These results identify a miRNA that targets both FGF2 and VEGFA in cancers, demonstrate the anti-angiogenesis role of miR-503 in tumorigenesis, and provide a novel mechanism for hypoxia-induced FGF2 and VEGFA through HIF1α-mediated inhibition of miR-503.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 49, "end": 53}], "disease": [{"text": "hypoxia", "start": 178, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Thus, MeCP2 is essential for myofibroblast differentiation and pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 6, "end": 11}], "disease": [{"text": "pulmonary fibrosis", "start": 63, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MeCP2", "start": 6, "end": 11}, "tail": {"text": "pulmonary fibrosis", "start": 63, "end": 81}}]}}, "schema": []}
{"input": "This study identifies RhoE as a direct target for HIF-1 in gastric cancer cells.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 22, "end": 26}], "disease": [{"text": "gastric cancer", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Among the downregulated miRNAs, we observed that miR-654-3p levels decrease with long-term PTC progression in Tg-Braf mice and inversely correlate with EMT.", "output": {"entities": {"gene": [{"text": "miR-654", "start": 49, "end": 56}], "disease": [{"text": "PTC", "start": 91, "end": 94}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-654", "start": 49, "end": 56}, "tail": {"text": "PTC", "start": 91, "end": 94}}]}}, "schema": []}
{"input": "AKT-GSK3beta signaling is a target of lithium and as such has been implicated in the pathogenesis of mood disorders.", "output": {"entities": {"gene": [{"text": "AKT", "start": 0, "end": 3}], "disease": [{"text": "mood disorders", "start": 101, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AKT", "start": 0, "end": 3}, "tail": {"text": "mood disorders", "start": 101, "end": 115}}]}}, "schema": []}
{"input": "Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.", "output": {"entities": {"gene": [{"text": "ROMK", "start": 50, "end": 54}], "disease": [{"text": "hyperkalemia", "start": 19, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "The convalescent NAT correlated well with the initial viral load and was independently associated with severity of the viral illness, including pneumonia.", "output": {"entities": {"gene": [{"text": "NAT", "start": 17, "end": 20}], "disease": [{"text": "pneumonia", "start": 144, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "Quantitative real-time polymerase chain reaction experiments revealed that reduced expression of Glo1 mRNA was observed in major depressive and bipolar disorder patients in a current depressive state, as compared with healthy control subjects.", "output": {"entities": {"gene": [{"text": "Glo1", "start": 97, "end": 101}], "disease": [{"text": "depressive state", "start": 183, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Glo1", "start": 97, "end": 101}, "tail": {"text": "depressive state", "start": 183, "end": 199}}]}}, "schema": []}
{"input": "Cyclin E2 induction of genomic instability by a mechanism distinct from cyclin E1 indicates that these two proteins have unique functions in a cancer setting.", "output": {"entities": {"gene": [{"text": "cyclin E1", "start": 72, "end": 81}], "disease": [{"text": "genomic instability", "start": 23, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Vector capsid dose-dependent inflammation of transduced liver has limited the ability of adeno-associated virus (AAV) factor IX (FIX) gene therapy vectors to reliably convert severe to mild hemophilia B in human clinical trials.", "output": {"entities": {"gene": [{"text": "AAV", "start": 113, "end": 116}], "disease": [{"text": "inflammation", "start": 29, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "To study the relationship between perinatal prognosis in cases of preterm labor (PTL) and polymicrobial infection in amniotic fluid (AF) and intra-amniotic (IA) inflammation using a highly sensitive and reliable PCR-based method.", "output": {"entities": {"gene": [{"text": "PTL", "start": 81, "end": 84}], "disease": [{"text": "polymicrobial infection", "start": 90, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the CD4 (-)-LAK can kill the CD34 + leukemia cells, discriminating from the normal hematopoietic progenitors.", "output": {"entities": {"gene": [{"text": "CD4", "start": 31, "end": 34}], "disease": [{"text": "leukemia", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "To explore the relationship between the polymorphism of HLA-DRB1 *, DQB * genes and the susceptibility of pneumoconiosis.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 56, "end": 64}], "disease": [{"text": "pneumoconiosis", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The incidence of anemia was highest in patients with Hb < 14. 0 g/dl and CLcr < 90 ml/min (76%), followed by Hb < 14. 0 g/dl and ITPA CC (57%).", "output": {"entities": {"gene": [{"text": "CLcr", "start": 73, "end": 77}], "disease": [{"text": "anemia", "start": 17, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "These are the first mutations to be recognized in the uroporphyrinogen III synthase gene from congenital erythropoietic porphyria patients.", "output": {"entities": {"gene": [{"text": "uroporphyrinogen III synthase", "start": 54, "end": 83}], "disease": [{"text": "congenital erythropoietic porphyria", "start": 94, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "uroporphyrinogen III synthase", "start": 54, "end": 83}, "tail": {"text": "congenital erythropoietic porphyria", "start": 94, "end": 129}}]}}, "schema": []}
{"input": "The Bcl-2/Bax ratio was higher in pleuritis than in MMs, compared to normal pleurae (441%, p = ns and 22%, p = ns, respectively); the difference between Bcl-2/Bax ratio in inflammatory and neoplastic pleural samples was significant (p = 0. 00375).", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 4, "end": 9}], "disease": [{"text": "pleuritis", "start": 34, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "A 3'-UTR BPI polymorphism was simultaneously associated with plasma BPI concentration, waist-to-hip ratio, fasting and postload insulin concentration, fasting plasma triglycerides, and insulin sensitivity.", "output": {"entities": {"gene": [{"text": "UTR", "start": 5, "end": 8}], "disease": [{"text": "waist-to-hip ratio", "start": 87, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Histopathological analysis revealed mild focal lung inflammation more frequently in the EGTA, C10, and C12 groups than in vehicle controls, with greater intensity in the C12 group relative to the other groups.", "output": {"entities": {"gene": [{"text": "C10", "start": 94, "end": 97}], "disease": [{"text": "mild", "start": 36, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "By polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP), the Cyclin D1 (A870G) genotyping was performed among 178 patients with esophageal or esophageal-gastric junction carcinoma (120 with esophageal squamous cell cancer and 58 with cardiac adenoma cancer) and 122 health controls.", "output": {"entities": {"gene": [{"text": "Cyclin D1", "start": 94, "end": 103}], "disease": [{"text": "esophageal", "start": 161, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).", "output": {"entities": {"gene": [{"text": "RIM1", "start": 55, "end": 59}], "disease": [{"text": "CORD7", "start": 121, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RIM1", "start": 55, "end": 59}, "tail": {"text": "CORD7", "start": 121, "end": 126}}]}}, "schema": []}
{"input": "Memory cells, and IL-2 receptors also were elevated in the GN group.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 18, "end": 22}], "disease": [{"text": "GN", "start": 59, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-2", "start": 18, "end": 22}, "tail": {"text": "GN", "start": 59, "end": 61}}]}}, "schema": []}
{"input": "However, whereas the majority of sporadic breast tumors that stained negative for p53 accumulation had wild-type TP53, the majority of BRCA1-associated breast tumors that stained negative for p53 accumulation had protein-truncating TP53 mutations (nonsense, frameshift, and splice mutations).", "output": {"entities": {"gene": [{"text": "TP53", "start": 113, "end": 117}], "disease": [{"text": "sporadic", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Our recent studies, based on the reported interrelationship between c-Myc and Sirt1 (mammalian orthologue of yeast sir2 [silent information regulator 2]) expression and their role in mitochondrial biogenesis and function, demonstrated a significant downregulation of Sirt1 protein expression and an upregulation of c-Myc following trauma-hemorrhage (T-H).", "output": {"entities": {"gene": [{"text": "c-Myc", "start": 68, "end": 73}], "disease": [{"text": "hemorrhage", "start": 338, "end": 348}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to evaluate the energy metabolism and mitochondrial function in skeletal muscle from patients with Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) or chronic progressive external ophthalmoplegia (CPEO) using phosphorus magnetic resonance spectroscopy ((31) P-MRS), to determine whether abnormally increasing cytochrome c oxidase (COX), as detected in muscle biopsy, could be a cause for MELAS.", "output": {"entities": {"gene": [{"text": "COX", "start": 395, "end": 398}], "disease": [{"text": "chronic progressive external ophthalmoplegia", "start": 215, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Here, we investigated the impact of these compounds on the instability of F508del-CFTR, the most common CF mutation.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 82, "end": 86}], "disease": [{"text": "CF", "start": 82, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 82, "end": 86}, "tail": {"text": "CF", "start": 82, "end": 84}}]}}, "schema": []}
{"input": "We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 101, "end": 107}], "disease": [{"text": "ALL", "start": 52, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A2", "start": 101, "end": 107}, "tail": {"text": "ALL", "start": 52, "end": 55}}]}}, "schema": []}
{"input": "In conclusion, the expression of miR-143 and miR-215 in serum were significantly up-regulated in patients with chronic hepatitis and HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 133, "end": 136}], "disease": [{"text": "chronic hepatitis", "start": 111, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "ErbB kinases and NDF signaling in human prostate cancer cells.", "output": {"entities": {"gene": [{"text": "NDF", "start": 17, "end": 20}], "disease": [{"text": "prostate cancer", "start": 40, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Moreover, EFEMP1 decreased secretion of MMPs and inhibited tumor cell proliferation, metastasis and invasion in vitro and suppressed tumorigenesis in nude mice.", "output": {"entities": {"gene": [{"text": "EFEMP1", "start": 10, "end": 16}], "disease": [{"text": "tumorigenesis", "start": 133, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In addition, an approximately 2-fold elevation of SK1 mRNA expression was observed in lung cancer tissue versus normal tissue, as well as in several other solid tumors.", "output": {"entities": {"gene": [{"text": "SK1", "start": 50, "end": 53}], "disease": [{"text": "lung cancer", "start": 86, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "It was our aim to characterize the LEP-2548G > A leptin polymorphism and lipid profile in obese and normal-weight individuals.", "output": {"entities": {"gene": [{"text": "LEP", "start": 35, "end": 38}], "disease": [{"text": "weight", "start": 107, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of FGL2 expression in HCCLM6 cells (hFGL2 (low) HCCLM6) resulted in delayed xenografts tumour growth within an observation period of 42 days and decreased vascularization, which was accompanied by decreased phosphorylation of extracellular signal-regulated kinase (ERK) and c-Jun N-terminal kinase (JNK).", "output": {"entities": {"gene": [{"text": "ERK", "start": 275, "end": 278}], "disease": [{"text": "vascularization", "start": 165, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "We now report a TBDN patient who is compound heterozygous for a recessive and a dominant glycine substitution mutation in COL7A1.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 122, "end": 128}], "disease": [{"text": "TBDN", "start": 16, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 122, "end": 128}, "tail": {"text": "TBDN", "start": 16, "end": 20}}]}}, "schema": []}
{"input": "Stratified analysis indicated that an increased risk of progression was observed in subjects carrying the XRCC1-399Arg/Gln + Gln/Gln genotype (OR = 1. 60; 95% CI = 1. 09-2. 36) or OGG1-326Ser/Cys + Cys/Cys genotype (OR = 1. 95; 95% CI = 1. 03-3. 71) with intestinal metaplasia or dysplasia at baseline or carrying the XRCC1-399Arg/Gln + Gln/Gln genotype and smoking (OR = 1. 58; 95% CI = 1. 02-2. 45).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 106, "end": 111}], "disease": [{"text": "smoking", "start": 358, "end": 365}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to analyze the impact of genetic alterations in the NF2 gene on epidemiologic, clinical, and radiologic features of patients with sporadic VS.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 78, "end": 86}], "disease": [{"text": "sporadic", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Transfection of the antisense C2GnT-1 cDNA resulted in a significant reduction of either selectin ligand expression or selectin-dependent cell adhesion in BCP-leukemia cell line KM3 cells.", "output": {"entities": {"gene": [{"text": "C2GnT", "start": 30, "end": 35}], "disease": [{"text": "leukemia", "start": 159, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "This study was conducted to investigate the HO-1 expression of lungs in lung injury by chrysotile asbestos in vivo and in vitro.", "output": {"entities": {"gene": [{"text": "HO-1", "start": 44, "end": 48}], "disease": [{"text": "lung injury", "start": 72, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HO-1", "start": 44, "end": 48}, "tail": {"text": "lung injury", "start": 72, "end": 83}}]}}, "schema": []}
{"input": "There was abundant PHF-tau present, which on Western blots, was indistinguishable from the PHF-tau typical of cases of sporadic Alzheimer' s disease and that of another FAD mutation (valine to isoleucine), previously (Neurosci.", "output": {"entities": {"gene": [{"text": "FAD", "start": 169, "end": 172}], "disease": [{"text": "sporadic", "start": 119, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.", "output": {"entities": {"gene": [{"text": "CYP21", "start": 0, "end": 5}], "disease": [{"text": "21-hydroxylase deficiency", "start": 50, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21", "start": 0, "end": 5}, "tail": {"text": "21-hydroxylase deficiency", "start": 50, "end": 75}}]}}, "schema": []}
{"input": "In this study the GSTmu phenotype and ADH genotype at the ADH3 locus were investigated in a group of 39 alcoholic men with upper respiratory/digestive tract cancer: 21 with oropharyngeal cancer and 18 with laryngeal cancer.", "output": {"entities": {"gene": [{"text": "ADH", "start": 38, "end": 41}], "disease": [{"text": "oropharyngeal cancer", "start": 173, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "These data indicated for the first time that it is possible that the VDR and CASR gene variants through their effects on LH and SHBG levels, and insulin resistance are involved in pathogenesis of PCOS.", "output": {"entities": {"gene": [{"text": "CASR gene", "start": 77, "end": 86}], "disease": [{"text": "insulin resistance", "start": 145, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Our results show that ten eleven translocation (TET) methylcytosine dioxygenase, predominantly TET1 in HCC cells, is a direct target of miR-494.", "output": {"entities": {"gene": [{"text": "HCC", "start": 103, "end": 106}], "disease": [{"text": "translocation", "start": 33, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Epidemiological studies have revealed that low plasma SHBG levels are an early indicator of insulin resistance and predict the development of type 2 diabetes mellitus (T2DM) in both men and women.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 54, "end": 58}], "disease": [{"text": "insulin resistance", "start": 92, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Compared with sporadic EOC patients, both BRCA1-and BRCA2-associated patients have improved outcomes after primary therapy, including chemotherapy.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 52, "end": 57}], "disease": [{"text": "sporadic", "start": 14, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Finally, because both the opiate and 5-HT2A antagonists reduce the ingestion of saccharin and chocolate solutions differentially, it is apparent that preferences for alternative palatable fluids should be examined when candidate drugs are screened for suppressing alcohol drinking and ultimately the treatment of alcohol abuse.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 37, "end": 43}], "disease": [{"text": "alcohol abuse", "start": 313, "end": 326}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2A", "start": 37, "end": 43}, "tail": {"text": "alcohol abuse", "start": 313, "end": 326}}]}}, "schema": []}
{"input": "Attenuation of HIF-1 and NF-κB transcriptional activity by siRNAs or pharmacological inhibitors, abrogated hypoxia-induced upregulation of CX3CR1, and also prevented the migration and invasion of DU145 cells under a hypoxic environment.", "output": {"entities": {"gene": [{"text": "CX3CR1", "start": 139, "end": 145}], "disease": [{"text": "hypoxic", "start": 216, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene.", "output": {"entities": {"gene": [{"text": "MEF2C", "start": 143, "end": 148}], "disease": [{"text": "autism spectrum disorder", "start": 56, "end": 80}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MEF2C", "start": 143, "end": 148}, "tail": {"text": "autism spectrum disorder", "start": 56, "end": 80}}]}}, "schema": []}
{"input": "Serum resistin level was correlated with insulin resistance, lower HDL cholesterol, and high-sensitivity C-reactive protein in the Japanese general population.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 105, "end": 123}], "disease": [{"text": "insulin resistance", "start": 41, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "TRMT11", "start": 33, "end": 39}], "disease": [{"text": "liver cancer", "start": 201, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRMT11", "start": 33, "end": 39}, "tail": {"text": "liver cancer", "start": 201, "end": 213}}]}}, "schema": []}
{"input": "Oxidized protein level, translocation of Bcl-2, Bax and cytochrome c between cytosol and mitochondria, and expression of peroxisome proliferator-activated receptors γ (PPARγ) and UCP2 were examined in the hippocampal CA3 subfield following KA-induced status epilepticus.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 168, "end": 173}], "disease": [{"text": "translocation", "start": 24, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "This study broadens the mutational spectrum of SCA35 and stresses the importance of TG6 in cerebellar functions.", "output": {"entities": {"gene": [{"text": "TG6", "start": 84, "end": 87}], "disease": [{"text": "SCA35", "start": 47, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TG6", "start": 84, "end": 87}, "tail": {"text": "SCA35", "start": 47, "end": 52}}]}}, "schema": []}
{"input": "Collectively, these results suggest that E (2) treatment down-regulates cell proliferation by modulating the expression of cyclin A, cyclin D1 and cyclin E. E (2) treatment simultaneously impaired cell migration by inhibiting the expression of uPA, tPA, MMP-2, and MMP-9 through E (2)/ERs-p38α MAPK signaling pathway in human LoVo colon cancer cells.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 147, "end": 155}], "disease": [{"text": "colon cancer", "start": 331, "end": 343}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated previously that c-Jun, JunB and c-Fos RNA were dysregulated in metastatic melanoma cells compared with normal human melanocytes.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 32, "end": 37}], "disease": [{"text": "metastatic melanoma", "start": 79, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We report molecular cytogenetic characterization of mosaic supernumerary r (1) (p13. 2q23. 3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses.", "output": {"entities": {"gene": [{"text": "p13", "start": 80, "end": 83}], "disease": [{"text": "psychomotor retardation", "start": 149, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Ad-BRCA1 treatment in SHR rats was associated with a sustained increase in aortic BRCA1 expression, lower aortic ROS production, reduced γH2A. X levels, greater RAD51 foci, and decreases in blood pressure.", "output": {"entities": {"gene": [{"text": "RAD51", "start": 161, "end": 166}], "disease": [{"text": "blood pressure", "start": 190, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "PRSS56 is a good candidate for the causal gene for nanophthalmos in our families.", "output": {"entities": {"gene": [{"text": "PRSS56", "start": 0, "end": 6}], "disease": [{"text": "nanophthalmos", "start": 51, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRSS56", "start": 0, "end": 6}, "tail": {"text": "nanophthalmos", "start": 51, "end": 64}}]}}, "schema": []}
{"input": "A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.", "output": {"entities": {"gene": [{"text": "ZFHX1B", "start": 27, "end": 33}], "disease": [{"text": "Mowat-Wilson syndrome", "start": 67, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZFHX1B", "start": 27, "end": 33}, "tail": {"text": "Mowat-Wilson syndrome", "start": 67, "end": 88}}]}}, "schema": []}
{"input": "] 3 +, CD14 +, CD19 +, CD68 +) were isolated by magnetic bead system and the expression of proinflammatory (CD40, tumor necrosis factor-alpha [TNFalpha]), proapoptotic (caspase-3 [CPP32], poly (ADP-ribose) polymerase [PARP]) and adhesion relevant (CD38) genes was measured by quantitative polymerase chain reaction (PCR).", "output": {"entities": {"gene": [{"text": "CD19", "start": 15, "end": 19}], "disease": [{"text": "adhesion", "start": 229, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Treatment with 9-cis retinoic acid significantly inhibited Wnt5b expression in myometrial SMC but not in their leiomyoma counterparts.", "output": {"entities": {"gene": [{"text": "Wnt5b", "start": 59, "end": 64}], "disease": [{"text": "leiomyoma", "start": 111, "end": 120}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Wnt5b", "start": 59, "end": 64}, "tail": {"text": "leiomyoma", "start": 111, "end": 120}}]}}, "schema": []}
{"input": "Among patients with an acute coronary syndrome those being HPA-3b homozygous have a tendency to develop ST segment elevation myocardial infarction instead of non-ST segment elevation infarction or unstable angina.", "output": {"entities": {"gene": [{"text": "HPA", "start": 59, "end": 62}], "disease": [{"text": "infarction", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We tested 538 patients for p53 codon 72 variants, including 167 unrelated patients with pathogenic germline mutations in MSH2 or MLH1 and colorectal carcinoma as first tumour, 126 patients with sporadic microsatellite stable colorectal cancers, and 245 healthy controls.", "output": {"entities": {"gene": [{"text": "p53", "start": 27, "end": 30}], "disease": [{"text": "sporadic", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Conversely, DNA damage-induced mono-ubiquitination of both PCNA and FANCD2 is attenuated in Rad18-deficient cells, demonstrating that Rad18 contributes to activation of the FA pathway.", "output": {"entities": {"gene": [{"text": "Rad18", "start": 92, "end": 97}], "disease": [{"text": "mono", "start": 31, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Addition of either superoxide dismutase (SOD) or catalase reduced arsenic induced cell transformation and tumor formation.", "output": {"entities": {"gene": [{"text": "catalase", "start": 49, "end": 57}], "disease": [{"text": "tumor", "start": 106, "end": 111}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 49, "end": 57}, "tail": {"text": "tumor", "start": 106, "end": 111}}]}}, "schema": []}
{"input": "The MSCs from the human bone marrow were transfected with recombinant adenovirus encoding endostatin and EGFP (MSC-EN cells).", "output": {"entities": {"gene": [{"text": "MSC", "start": 4, "end": 7}], "disease": [{"text": "adenovirus", "start": 70, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.", "output": {"entities": {"gene": [{"text": "coproporphyrinogen oxidase", "start": 23, "end": 49}], "disease": [{"text": "hereditary coproporphyria", "start": 66, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coproporphyrinogen oxidase", "start": 23, "end": 49}, "tail": {"text": "hereditary coproporphyria", "start": 66, "end": 91}}]}}, "schema": []}
{"input": "The present study did not find any significant association of NQO1 609C > T and NQO2-3423G > A polymorphisms with susceptibility to EC or its clinical phenotypes (histopathology, tumor location or lymph node metastasis) or interactions with lifestyle risk factors (tobacco usage, smoking, alcohol habit and occupational exposures).", "output": {"entities": {"gene": [{"text": "NQO2", "start": 80, "end": 84}], "disease": [{"text": "smoking", "start": 280, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 148, "end": 153}], "disease": [{"text": "OD", "start": 25, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR1", "start": 148, "end": 153}, "tail": {"text": "OD", "start": 25, "end": 27}}]}}, "schema": []}
{"input": "By applying whole-exome sequencing and filtering for X-chromosomal variants, we identified a de novo nonsense mutation in NDUFB11 (Xp11. 23) in one female individual and a heterozygous 1-bp deletion in a second individual, her asymptomatic mother, and an affected aborted fetus of the subject' s mother.", "output": {"entities": {"gene": [{"text": "NDUFB11", "start": 122, "end": 129}], "disease": [{"text": "asymptomatic", "start": 227, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison' s disease.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 62, "end": 68}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Reduction of insulinotropic properties of GLP-1 and GIP after glucocorticoid-induced insulin resistance.", "output": {"entities": {"gene": [{"text": "GIP", "start": 52, "end": 55}], "disease": [{"text": "insulin resistance", "start": 85, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We conclude that IRP1 is translocated to the ER by multiple signals in HepG2 cells, including hypoxia, thereby facilitating its role in regulation of hepatic gene expression.", "output": {"entities": {"gene": [{"text": "IRP1", "start": 17, "end": 21}], "disease": [{"text": "hypoxia", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In order to determine the role of proteins involved in G (1) control in tumorigenesis, we focused on Cdk2 and Cdk4, two cyclin-dependent kinases that in association with cyclin E and cyclin D promote the G (1)/S phase transition.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 101, "end": 105}], "disease": [{"text": "tumorigenesis", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Childhood SES as indexed by Father' s Education Level was associated with larger systolic blood pressure (SBP) (p <. 05) and diastolic blood pressure (DBP) (p =. 01) responses to mental stress.", "output": {"entities": {"gene": [{"text": "DBP", "start": 151, "end": 154}], "disease": [{"text": "systolic blood pressure", "start": 81, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We have used our unique murine model of PBC in dominant-negative TGF-β receptor type II transgenic mice to delineate critical early immunopathological pathways, and previously showed that dnTGFβRII CD8 T cells transfer biliary disease.", "output": {"entities": {"gene": [{"text": "CD8", "start": 198, "end": 201}], "disease": [{"text": "biliary disease", "start": 219, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyperaldosteronism, mild metabolic alkalosis, hypomagnesemia and hypocalciuria.", "output": {"entities": {"gene": [{"text": "NCCT", "start": 30, "end": 34}], "disease": [{"text": "mild", "start": 142, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Here, we found that intrathecal injection of BAM8-22 (a 15-amino acid peptide MrgC agonist) and JHU58 (a novel dipeptide MrgC agonist) inhibited both mechanical and heat hypersensitivity in rats after an L5 spinal nerve ligation (SNL).", "output": {"entities": {"gene": [{"text": "SNL", "start": 230, "end": 233}], "disease": [{"text": "hypersensitivity", "start": 170, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Herein we report the clinical and the most relevant molecular genetic findings obtained in a LHON family with a new mitochondrial DNA mutations at np 14498 in the ND 6 gene.", "output": {"entities": {"gene": [{"text": "ND 6", "start": 163, "end": 167}], "disease": [{"text": "LHON", "start": 93, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND 6", "start": 163, "end": 167}, "tail": {"text": "LHON", "start": 93, "end": 97}}]}}, "schema": []}
{"input": "Following caspase 8 activation, Bid, a proapoptotic Bcl-2 member, was cleaved and this cleavage then triggered Bax conformational changes and Bax translocation from cytosol to mitochondrial membrane.", "output": {"entities": {"gene": [{"text": "caspase 8", "start": 10, "end": 19}], "disease": [{"text": "translocation", "start": 146, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "We examined the prevalence, genotype-phenotype correlation, and natural history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM).", "output": {"entities": {"gene": [{"text": "lamin A/C", "start": 83, "end": 92}], "disease": [{"text": "DCM", "start": 156, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lamin A/C", "start": 83, "end": 92}, "tail": {"text": "DCM", "start": 156, "end": 159}}]}}, "schema": []}
{"input": "In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment.", "output": {"entities": {"gene": [{"text": "LAMC3", "start": 36, "end": 41}], "disease": [{"text": "brain", "start": 29, "end": 34}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LAMC3", "start": 36, "end": 41}, "tail": {"text": "brain", "start": 29, "end": 34}}]}}, "schema": []}
{"input": "The ploidy between BRCA2-mutated (n = 71) and matched sporadic (n = 165) cancers was compared.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 19, "end": 24}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Since Th1 and Th2 cytokines differentially regulate the ratio between IL-1beta and IL-1Ra, these findings suggest that dysregulation of IL-1beta/IL-1Ra, probably due to interaction between epithelium and immuno-competent cells in the airway, is important in asthma inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 6, "end": 9}], "disease": [{"text": "inflammation", "start": 265, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "In addition, induction of insulin resistance by the intake of high fructose is more rapid in MOR knockout mice than in wild-type mice.", "output": {"entities": {"gene": [{"text": "MOR", "start": 93, "end": 96}], "disease": [{"text": "insulin resistance", "start": 26, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 46, "end": 71}], "disease": [{"text": "acute intermittent porphyria", "start": 121, "end": 149}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 46, "end": 71}, "tail": {"text": "acute intermittent porphyria", "start": 121, "end": 149}}]}}, "schema": []}
{"input": "To report a novel mutation in the TGFBI gene, c. 1761_1763del (p. His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD).", "output": {"entities": {"gene": [{"text": "TGFBI", "start": 34, "end": 39}], "disease": [{"text": "LCD", "start": 145, "end": 148}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBI", "start": 34, "end": 39}, "tail": {"text": "LCD", "start": 145, "end": 148}}]}}, "schema": []}
{"input": "The presence of variant alleles in TP53BP1 rs560191, CASP7 rs7907519 or BCL2 rs12454712 enhanced the risk of smoking by 2. 08-2. 58 times [interaction odds ratio (ORi) = 2. 08-2. 58, adjusted P-value (Padj) = 0. 02-0. 04].", "output": {"entities": {"gene": [{"text": "CASP7", "start": 53, "end": 58}], "disease": [{"text": "smoking", "start": 109, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "This is usually a biochemical characteristic of EDS IV, caused by mutations of COL3A1.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 79, "end": 85}], "disease": [{"text": "EDS IV", "start": 48, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 79, "end": 85}, "tail": {"text": "EDS IV", "start": 48, "end": 54}}]}}, "schema": []}
{"input": "Here we show that silencing of PTH receptor 1 (PPR) in T cells blocks the bone loss and the osteoclastic expansion induced by cPTH, thus demonstrating that PPR signaling in T cells is central for PTH-induced reduction of bone mass.", "output": {"entities": {"gene": [{"text": "PTH receptor", "start": 31, "end": 43}], "disease": [{"text": "bone mass", "start": 221, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "These results show that BPI ameliorates hypercoagulability after hemorrhagic shock and suggest that endotoxin plays a role in the pathogenesis of thrombogenic responses after hemorrhagic shock.", "output": {"entities": {"gene": [{"text": "BPI", "start": 24, "end": 27}], "disease": [{"text": "hypercoagulability", "start": 40, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "As predicted for dysregulation of c-maf by translocation, there is selective expression of one c-maf allele in 2 informative lines with translocations.", "output": {"entities": {"gene": [{"text": "c-maf", "start": 34, "end": 39}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Moreover, in young patients with breast carcinoma, the rates of Ki67 with the overexpression of HER2/neu and p53 mutations are higher, and it shows a more aggressive behavior than other tumors assessed in this age group.", "output": {"entities": {"gene": [{"text": "HER2/neu", "start": 96, "end": 104}], "disease": [{"text": "aggressive behavior", "start": 155, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Mutations of TPM3 gene have been found in nemaline myopathy, congenital fiber type disproportion, but never before in cap disease.", "output": {"entities": {"gene": [{"text": "TPM3 gene", "start": 13, "end": 22}], "disease": [{"text": "myopathy, congenital", "start": 51, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The AP-1 repressor protein, JDP2, potentiates hepatocellular carcinoma in mice.", "output": {"entities": {"gene": [{"text": "JDP2", "start": 28, "end": 32}], "disease": [{"text": "hepatocellular carcinoma", "start": 46, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JDP2", "start": 28, "end": 32}, "tail": {"text": "hepatocellular carcinoma", "start": 46, "end": 70}}]}}, "schema": []}
{"input": "They furthermore suggest that the stellate cell phenotype observed in U343 MG-A astrocytoma cells after cyclin-dependent kinase inhibitor (CKI) induction and RA treatment is accompanied by an inhibition and inactivation of rhoA in this cell system.", "output": {"entities": {"gene": [{"text": "CKI", "start": 139, "end": 142}], "disease": [{"text": "astrocytoma", "start": 80, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.", "output": {"entities": {"gene": [{"text": "PSD95", "start": 287, "end": 292}], "disease": [{"text": "major depression", "start": 434, "end": 450}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 287, "end": 292}, "tail": {"text": "major depression", "start": 434, "end": 450}}]}}, "schema": []}
{"input": "Among the 11 prognostic risk genes, v-maf avian musculoaponeurotic fibrosarcoma oncogene homologue F (MAFF), SRY (sex-determining region Y)-box 4 (SOX4), and retinoic acid receptor, alpha (RARA) encoded transcription factors.", "output": {"entities": {"gene": [{"text": "RARA", "start": 189, "end": 193}], "disease": [{"text": "fibrosarcoma", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Early progression (first 36 months) occurred in 2% of patients with diploid ABH positive tumors and in 31% of those with aneuploid ABH negative tumors (p less than 0. 008).", "output": {"entities": {"gene": [{"text": "ABH", "start": 76, "end": 79}], "disease": [{"text": "aneuploid", "start": 121, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.", "output": {"entities": {"gene": [{"text": "MAML3", "start": 15, "end": 20}], "disease": [{"text": "sarcoma", "start": 54, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAML3", "start": 15, "end": 20}, "tail": {"text": "sarcoma", "start": 54, "end": 61}}]}}, "schema": []}
{"input": "The protective mechanism of ischemic postconditioning was investigated by comparing its effects on apoptosis, production of the neurotoxic cytokine IL-1β and the transcription and expression of TLR2, TLR4 and IRAK4 in the 2 and 4. 5 hour ischemia groups.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 194, "end": 198}], "disease": [{"text": "ischemia", "start": 238, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "The prevalence of PFO was significantly higher in migraine patients with aura and the homozygous variant of the MTHFR gene.", "output": {"entities": {"gene": [{"text": "MTHFR gene", "start": 112, "end": 122}], "disease": [{"text": "aura", "start": 73, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "This issue was examined in a model of ischemia-reperfusion stress when cultures of endothelial cells (EC) from human umbilical vein were infected with virus-based vectors expressing Hsp70 or Hsp27, or Hsp56, or green fluorescent protein (GFP) and exposed to 20 hours of hypoxia followed by reoxygenation.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 182, "end": 187}], "disease": [{"text": "hypoxia", "start": 270, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "The constitutive androstane receptor (CAR) may participate in insulin resistance in pregnancy, and sex steroids, estradiol (E (2)) and progesterone, may also be involved.", "output": {"entities": {"gene": [{"text": "constitutive androstane receptor", "start": 4, "end": 36}], "disease": [{"text": "insulin resistance", "start": 62, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Thus, allogeneic Th1 CD4 (+) cells generated during GVHD traffic to hematopoietic sites and induce bone marrow failure via IFNγ-mediated toxicity.", "output": {"entities": {"gene": [{"text": "CD4", "start": 21, "end": 24}], "disease": [{"text": "bone marrow failure", "start": 99, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Because in the muscle of patients with sporadic inclusion body myositis (sIBM) clonally expanded CD8 + T cells invade major histocompatibility complex (MHC) class I-expressing muscle fibres, we investigated ICOS. ICOS-L interactions and correlated their expression with perforin, a marker for cytotoxic effector function by autoinvasive CD8 + T cells.", "output": {"entities": {"gene": [{"text": "CD8", "start": 97, "end": 100}], "disease": [{"text": "sporadic inclusion body myositis", "start": 39, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230), an autosomal recessive genetic disease that is characterized by the swelling of multiple joints and disproportionate dwarfism.", "output": {"entities": {"gene": [{"text": "WISP3", "start": 0, "end": 5}], "disease": [{"text": "progressive pseudorheumatoid dysplasia", "start": 41, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WISP3", "start": 0, "end": 5}, "tail": {"text": "progressive pseudorheumatoid dysplasia", "start": 41, "end": 79}}]}}, "schema": []}
{"input": "It also suggests that the genetic effect of ADH2 * 1 plays an important role in alcohol drinking behavior and in the occurrence of liver injury, but the effect is so mild that it does not influence the glucose-insulin axis or prevalence of diabetes.", "output": {"entities": {"gene": [{"text": "ADH2", "start": 44, "end": 48}], "disease": [{"text": "mild", "start": 166, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Using gene-specific primers in semi-quantitative reverse-transcriptase polymerase-chain-reaction experiments we found elevated expression of eotaxin-and RANTES-mRNA but no MCP-3-mRNA in non-atopic and atopic nasal polyps when compared to normal nasal mucosa.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 153, "end": 159}], "disease": [{"text": "atopic", "start": 190, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Pure autosomal dominant spastic paraplegia (SPG) is a genetically heterogeneous neurodegenerative disorder of the central nervous system clinically characterized by progressive spasticity mainly affecting the lower limbs.", "output": {"entities": {"gene": [{"text": "SPG", "start": 44, "end": 47}], "disease": [{"text": "progressive spasticity", "start": 165, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "For EDNRA, we found a weak association of the exon 8 variant with HT (p = 0. 019) and association of the 5'-UTR variant with elevation in systolic and diastolic blood pressure (BP) (p = 0. 038 and 0. 0031, respectively).", "output": {"entities": {"gene": [{"text": "EDNRA", "start": 4, "end": 9}], "disease": [{"text": "diastolic blood pressure", "start": 151, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that genetic variation in TNF may contribute to childhood asthma and that associations may be modified by parental smoking.", "output": {"entities": {"gene": [{"text": "TNF", "start": 46, "end": 49}], "disease": [{"text": "smoking", "start": 135, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.", "output": {"entities": {"gene": [{"text": "SPG15", "start": 4, "end": 9}], "disease": [{"text": "Kjellin syndrome", "start": 228, "end": 244}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SPG15", "start": 4, "end": 9}, "tail": {"text": "Kjellin syndrome", "start": 228, "end": 244}}]}}, "schema": []}
{"input": "HLA-A * 6801-02 and DRB1 * 1601-1606 frequencies appeared elevated in a subset of patients with serositis and DRB1 * 0401-1122 frequency was elevated in those displaying neurologic disorder.", "output": {"entities": {"gene": [{"text": "HLA-A", "start": 0, "end": 5}], "disease": [{"text": "serositis", "start": 96, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Limited epidemiological evidence suggests that genetic polymorphisms of drug-metabolizing enzymes such as cytochrome P450 (CYP), glutathione S-transferase (GST) and N-acetyltransferase (NAT) may be involved in tobacco-related hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "NAT", "start": 186, "end": 189}], "disease": [{"text": "hepatocarcinogenesis", "start": 226, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.", "output": {"entities": {"gene": [{"text": "STRA6", "start": 13, "end": 18}], "disease": [{"text": "alveolar capillary dysplasia", "start": 131, "end": 159}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "STRA6", "start": 13, "end": 18}, "tail": {"text": "alveolar capillary dysplasia", "start": 131, "end": 159}}]}}, "schema": []}
{"input": "The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE genotypes predisposing to iron overload (p. Cys282Tyr + and p. His63Asp +/+; p = 0. 01), and the p. 736Val variant was negatively associated with hepatic iron accumulation independently of age, gender, HFE genotype, and beta-thalassemia trait (OR 0. 59, 0. 39-0. 88).", "output": {"entities": {"gene": [{"text": "TMPRSS6", "start": 17, "end": 24}], "disease": [{"text": "beta-thalassemia", "start": 319, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "Moreover, overexpression of calpastatin or knockdown of AIF expression conferred neuroprotection against cell death in neuronal cultures and in hippocampal CA1 neurons after transient global ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 156, "end": 159}], "disease": [{"text": "ischemia", "start": 191, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "Because progerin also accumulates during physiological ageing, our results provide an in vitro iPSC-based model to study the pathogenesis of human premature and physiological vascular ageing.", "output": {"entities": {"gene": [{"text": "progerin", "start": 8, "end": 16}], "disease": [{"text": "ageing", "start": 55, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Although the mouse model does not display the full pathology of PAH, the inhibition of miR-145 by modified ASOs is promising for prevention and reversion of vascular remodeling.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 87, "end": 94}], "disease": [{"text": "vascular remodeling", "start": 157, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Killing effect of Ad5/F35-APE1 siRNA recombinant adenovirus in combination with hematoporphrphyrin derivative-mediated photodynamic therapy on human nonsmall cell lung cancer.", "output": {"entities": {"gene": [{"text": "APE1", "start": 26, "end": 30}], "disease": [{"text": "adenovirus", "start": 49, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent.", "output": {"entities": {"gene": [{"text": "COL7A1", "start": 36, "end": 42}], "disease": [{"text": "PEB", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL7A1", "start": 36, "end": 42}, "tail": {"text": "PEB", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "Circulating levels of interleukin-6 (IL-6), soluble IL-6 receptor (sIL-6R), tumor necrosis factor-alpha-receptor (TNF-RII), and soluble intercellular adhesion molecule (sICAM) did not differ between those with and without depression.", "output": {"entities": {"gene": [{"text": "tumor necrosis factor-alpha-receptor", "start": 76, "end": 112}], "disease": [{"text": "depression", "start": 222, "end": 232}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tumor necrosis factor-alpha-receptor", "start": 76, "end": 112}, "tail": {"text": "depression", "start": 222, "end": 232}}]}}, "schema": []}
{"input": "We investigated the effect of short hair pin ribonucleic acid (RNA) specific for human telomerase reverse transcriptase messenger RNA on the expression of the proteins c-myc (the transcription factor c-myc is a shortlived nuclear phospho-protein involved in cell proliferation and differentiation, belongs to the myc family), proliferating cell nuclear antigen and Caspase-3 in nasopharyngeal carcinoma cells.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase", "start": 87, "end": 119}], "disease": [{"text": "pin", "start": 41, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Thus, we investigated the time course of mRNA expression of cytokines known as causative factors in a model of RIF in rats before and on day 10 after unilateral ureteral obstruction (UUO), when first signs of fibrosis were visible, as well as during progressive RIF.", "output": {"entities": {"gene": [{"text": "RIF", "start": 111, "end": 114}], "disease": [{"text": "fibrosis", "start": 209, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Hence EWS should not be used as an internal control for the RNA quality in a RT-PCR based test for the presence of the translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 6, "end": 9}], "disease": [{"text": "translocation", "start": 119, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "We investigated 18 adrenals with APA and 15 with non-functioning adrenal incidentaloma (NFAI) for expression of Disabled-2 and GIRK4, two markers of zona glomerulosa (ZG), and 77 adrenals with APA with known mutational status for GIRK4 expression.", "output": {"entities": {"gene": [{"text": "APA", "start": 33, "end": 36}], "disease": [{"text": "adrenal incidentaloma", "start": 65, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "High-dose paclitaxel with granulocyte colony-stimulating factor in patients with advanced breast cancer refractory to anthracycline therapy: a European Cancer Center trial.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 26, "end": 63}], "disease": [{"text": "breast cancer", "start": 90, "end": 103}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 26, "end": 63}, "tail": {"text": "breast cancer", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "Overexpression via adenovirus-mediated gene transfer and siRNA-mediated gene silencing established that hepatocyte nuclear factor 4 (HNF-4) is an important regulator of apoM gene transcription in hepatic cells.", "output": {"entities": {"gene": [{"text": "hepatocyte nuclear factor 4", "start": 104, "end": 131}], "disease": [{"text": "adenovirus", "start": 19, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Because smoking and obesity are known and suspected pancreas cancer risk factors, and have been associated with DNA damage and oxidative stress in target tissues, we estimated odds ratios (ORs), interaction contrast ratios (ICRs), and 95% confidence intervals for the combined effects of XRCC1 genotype and smoking or body mass index (in kg/m (2)).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 288, "end": 293}], "disease": [{"text": "smoking", "start": 8, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "ADAM9, 12 and 15 are implicated in the malignant growth of GC cells, perhaps via the interaction with adhesion molecules, or the proteolytic' shedding' of signaling molecules and the consequent transactivation of their receptors, such as the epithelial growth factor receptor and its ligands.", "output": {"entities": {"gene": [{"text": "ADAM9", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "STAT3 and STAT1 mediate IL-11-dependent and inflammation-associated gastric tumorigenesis in gp130 receptor mutant mice.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 10, "end": 15}], "disease": [{"text": "inflammation", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Moreover, two inhibitors of anoctamin ion channels, tannic acid and a more selective inhibitor of anoctamin 1, significantly inhibited PLC cyst growth and cyst enlargement in an embryonic kidney cyst model.", "output": {"entities": {"gene": [{"text": "PLC", "start": 135, "end": 138}], "disease": [{"text": "enlargement", "start": 160, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "We further showed that the FGF2/FGFR pathways may play a role in the directional movement of MSC to the Rif-1 fibrosarcoma.", "output": {"entities": {"gene": [{"text": "MSC", "start": 93, "end": 96}], "disease": [{"text": "fibrosarcoma", "start": 110, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In this case control genetic association study, we genotyped four functional polymorphisms in low-affinity FcγRs, including FCGR2A 131H/R, FCGR3A 158F/V, FCGR3B NA1/NA2, and FCGR2B 232I/T, in 117 patients with cryptococcal meningitis and 190 healthy controls by multiplex SNaPshot technology.", "output": {"entities": {"gene": [{"text": "FCGR3A", "start": 139, "end": 145}], "disease": [{"text": "cryptococcal meningitis", "start": 210, "end": 233}]}, "relations": {}}, "schema": []}
{"input": "We quantified urinary mRNA levels of interleukin (IL) 9, IL-10, IL-22, and their corresponding transcription factors in 73 patients with active lupus nephritis, 13 patients with hypertensive nephrosclerosis (HTN), and 25 healthy subjects.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 64, "end": 69}], "disease": [{"text": "lupus nephritis", "start": 144, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Compared to DAF-sufficient littermate controls, DAF-deficient female MRL/lpr mice developed exacerbated lymphadenopathy and splenomegaly, higher serum anti-chromatin autoantibody levels, and aggravated dermatitis.", "output": {"entities": {"gene": [{"text": "DAF", "start": 12, "end": 15}], "disease": [{"text": "splenomegaly", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "-308G/A TNF-alpha and + 874A/T INF-gamma genes polymorphisms probably do not play important role in pancreatic diseases.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 8, "end": 17}], "disease": [{"text": "pancreatic diseases", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Based on these data, it appears that OPG may have tumor-promoting roles in the pathogenesis of lymphangioleiomyomatosis, perhaps acting as both autocrine and paracrine factors.", "output": {"entities": {"gene": [{"text": "OPG", "start": 37, "end": 40}], "disease": [{"text": "lymphangioleiomyomatosis", "start": 95, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In heterozygous Dll1 mutant mice endothelial Notch activation and ephrin-B2 induction after hindlimb ischemia were absent, arterial collateral growth was abrogated and recovery of blood flow was severely impaired, but perivascular vascular endothelial growth factor and EphB4 expression was unaltered.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 270, "end": 275}], "disease": [{"text": "ischemia", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Because the new RET alleles described here involve cysteine residues in a region of protein previously associated with FMTC and MEN2A, it is very likely that they represent mutations that predispose to the development of MTC.", "output": {"entities": {"gene": [{"text": "RET", "start": 16, "end": 19}], "disease": [{"text": "FMTC", "start": 119, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RET", "start": 16, "end": 19}, "tail": {"text": "FMTC", "start": 119, "end": 123}}]}}, "schema": []}
{"input": "Inactivation of the effectors of replicative senescence, i. e. genes encoding one or more elements of the p16/pRB and/or ARF/p53/p21 anti-proliferative pathways, is required for telomerase depression leading to immortalization.", "output": {"entities": {"gene": [{"text": "ARF", "start": 121, "end": 124}], "disease": [{"text": "depression", "start": 189, "end": 199}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARF", "start": 121, "end": 124}, "tail": {"text": "depression", "start": 189, "end": 199}}]}}, "schema": []}
{"input": "We examined 124 untreated primary breast cancer patients comprising 100 sporadic and 24 familial cases including 56 age-matched healthy controls for the presence of BRCA1, BRCA2 and the p53 gene mutations using PCR-SSCP and direct nucleotide sequencing.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 186, "end": 194}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Alternatively spliced variants of the follicle-stimulating hormone receptor gene in the testis of infertile men.", "output": {"entities": {"gene": [{"text": "follicle-stimulating hormone receptor", "start": 38, "end": 75}], "disease": [{"text": "infertile", "start": 98, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: Mutational loss of tumor suppressor phosphatase and tensin homologue deleted on chromosome ten (PTEN) is associated with malignant progression in many cancers, including colorectal cancer (CRC).", "output": {"entities": {"gene": [{"text": "tensin", "start": 64, "end": 70}], "disease": [{"text": "cancers", "start": 163, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Three hundred Chinese (91 normal weight subjects, 209 overweight/obesity subjects) were genotyped for the UCP3 gene-55 (C > T) by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).", "output": {"entities": {"gene": [{"text": "UCP3 gene", "start": 106, "end": 115}], "disease": [{"text": "overweight", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We found no association between MGMT expression and the somatic mutation spectrum at APC, beta-catenin, K-ras, or p53, but decreased MGMT expression was weakly associated with the presence of a G: C > A: T change at any one of these loci.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 32, "end": 36}], "disease": [{"text": "somatic mutation", "start": 56, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "We describe the neuropathological and biochemical autopsy findings in 3 patients with autosomal dominant adult neuronal ceroid lipofuscinosis (ANCL, Parry type; MIM 162350), from a family with 6 affected individuals in 3 generations.", "output": {"entities": {"gene": [{"text": "MIM", "start": 161, "end": 164}], "disease": [{"text": "adult neuronal ceroid lipofuscinosis", "start": 105, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "RNA in situ studies on mouse embryo tissue sections show that Ofd1 is developmentally regulated and is expressed in all tissues affected in OFD1 syndrome.", "output": {"entities": {"gene": [{"text": "Ofd1", "start": 62, "end": 66}], "disease": [{"text": "OFD1", "start": 140, "end": 144}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Ofd1", "start": 62, "end": 66}, "tail": {"text": "OFD1", "start": 140, "end": 144}}]}}, "schema": []}
{"input": "For this purpose, we have investigated the menin gene mutations in 21 sporadic parathyroid adenomas, 2 parathyroid carcinomas, 4 sporadic insulinomas, and 1 malignant VIP (vasoactive intestinal polypeptide) oma with WDHA (watery diarrhea, hypokalemia, and achlorhydria) syndrome, using PCR-single strand conformation polymorphism analysis and DNA sequencing.", "output": {"entities": {"gene": [{"text": "VIP", "start": 167, "end": 170}], "disease": [{"text": "watery diarrhea", "start": 222, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Th17 cells, a subset of IL-17-producing T cells distinct from Th1 or Th2 cells has been described as key players in inflammation and autoimmune diseases as well as cancer development.", "output": {"entities": {"gene": [{"text": "Th1", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 116, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "We applied immunohistochemistry to identify, and double-labeling to colocalize, IL-4 and IL-5 to distinct inflammatory cells in resected bronchi from (1) 11 asymptomatic smokers (AS), (2) 11 smokers with CB, and (3) 10 smokers with CB and AO.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 80, "end": 84}], "disease": [{"text": "asymptomatic", "start": 157, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "This study investigated the efficacy and safety of vorinostat, a deacetylase (HDAC) inhibitor, in the treatment of laser-induced corneal haze following photorefractive keratectomy (PRK) in rabbits in vivo and transforming growth factor beta 1 (TGFβ1)-induced corneal fibrosis in vitro.", "output": {"entities": {"gene": [{"text": "HDAC", "start": 78, "end": 82}], "disease": [{"text": "corneal haze", "start": 129, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Expression of RANTES, eotaxin-2, ICAM-1, LFA-1 and CCR-3 in chronic rhinosinusitis patients with nasal polyposis.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 41, "end": 46}], "disease": [{"text": "nasal polyposis", "start": 97, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Both AP1 and NF-kappaB, transcription factors that regulate IL-2 gene expression, were activated in vivo in sarcoid pulmonary CD4 (+) T lymphocytes.", "output": {"entities": {"gene": [{"text": "CD4", "start": 126, "end": 129}], "disease": [{"text": "sarcoid", "start": 108, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Our study revealed that ccRCC tumors exhibited a 56% decrease in THRB and a 37% increase in DNA methyltransferase 1 (DNMT1) expression when compared with paired non-neoplastic control samples.", "output": {"entities": {"gene": [{"text": "THRB", "start": 65, "end": 69}], "disease": [{"text": "non-neoplastic", "start": 161, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Biotin-responsive basal ganglia disease maps to 2q36. 3 and is due to mutations in SLC19A3.", "output": {"entities": {"gene": [{"text": "SLC19A3", "start": 83, "end": 90}], "disease": [{"text": "Biotin-responsive basal ganglia disease", "start": 0, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC19A3", "start": 83, "end": 90}, "tail": {"text": "Biotin-responsive basal ganglia disease", "start": 0, "end": 39}}]}}, "schema": []}
{"input": "Sibpair analyses performed on i49 multiplex French families with type 2 diabetes excluded MAPK8IP1 as a major diabetogenic locus.", "output": {"entities": {"gene": [{"text": "MAPK8IP1", "start": 90, "end": 98}], "disease": [{"text": "type 2 diabetes", "start": 65, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MAPK8IP1", "start": 90, "end": 98}, "tail": {"text": "type 2 diabetes", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "Cisplatin chemotherapy, a mainstay of SCC treatment, promotes dissociation of p63 and HDAC from the PUMA promoter, leading to increased histone acetylation, PUMA activation, and apoptosis.", "output": {"entities": {"gene": [{"text": "p63", "start": 78, "end": 81}], "disease": [{"text": "dissociation", "start": 62, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "When the expression constructs were injected two days before transient forebrain ischemia, the loss of CA1 hippocampal neurons observed seven days later was significantly reduced on the injected side compared with controls.", "output": {"entities": {"gene": [{"text": "CA1", "start": 103, "end": 106}], "disease": [{"text": "ischemia", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined.", "output": {"entities": {"gene": [{"text": "dyskerin", "start": 137, "end": 145}], "disease": [{"text": "X-linked dyskeratosis congenita", "start": 20, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "dyskerin", "start": 137, "end": 145}, "tail": {"text": "X-linked dyskeratosis congenita", "start": 20, "end": 51}}]}}, "schema": []}
{"input": "In preimplantation embryos, the incidence of chromosomal abnormalities due to a previous aneuploid miscarriage after either NC or ART is significantly higher than in the control group.", "output": {"entities": {"gene": [{"text": "ART", "start": 130, "end": 133}], "disease": [{"text": "miscarriage", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "The controversial role of Sirtuins in tumorigenesis-SIRT7 joins the debate.", "output": {"entities": {"gene": [{"text": "SIRT7", "start": 52, "end": 57}], "disease": [{"text": "tumorigenesis", "start": 38, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To address whether the deficiency in autologous tumor recognition might be related to a deficiency in Ag presentation, we screened for the presence of TAP1 and TAP2 transcripts by polymerase chain reaction, Southern blotting, and scanning densitometry using sequence-specific primers and probes.", "output": {"entities": {"gene": [{"text": "TAP2", "start": 160, "end": 164}], "disease": [{"text": "tumor", "start": 48, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Previous studies suggest that NOLC1 is crucial for normal cell growth, and plays a role in the regulation of tumorigenesis of nasopharyngeal carcinoma (NPC) and demonstrate that both NOLC1 and tumor protein 53 work synergistically to activate the MDM2 promoter in NPC cells.", "output": {"entities": {"gene": [{"text": "NOLC1", "start": 30, "end": 35}], "disease": [{"text": "tumorigenesis", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Finally, we investigated whether a period of drug withdrawal for a further 7 days affected the neuroprotection produced by the PPARγ agonists.", "output": {"entities": {"gene": [{"text": "PPARγ", "start": 127, "end": 132}], "disease": [{"text": "drug withdrawal", "start": 45, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that the natural 385A SNP in the human FAAH gene produces a mutant enzyme with reduced cellular stability, thus fortifying a potential link between functional abnormalities in the endocannabinoid system and drug abuse and dependence.", "output": {"entities": {"gene": [{"text": "FAAH gene", "start": 63, "end": 72}], "disease": [{"text": "abnormalities", "start": 183, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We found that all 21 normal esophageal tissues had unmethylated MGMT; however, among 119 ESCC, 46 (38. 7%) had hypermethylated MGMT.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 64, "end": 68}], "disease": [{"text": "esophageal", "start": 28, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients.", "output": {"entities": {"gene": [{"text": "NF1", "start": 93, "end": 96}], "disease": [{"text": "neurofibromatosis type 1", "start": 119, "end": 143}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NF1", "start": 93, "end": 96}, "tail": {"text": "neurofibromatosis type 1", "start": 119, "end": 143}}]}}, "schema": []}
{"input": "Airway wall inflammation, IL-4, and mucus hypersecretion are thought to be associated.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 26, "end": 30}], "disease": [{"text": "inflammation", "start": 12, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Human breast carcinoma (MCF7-MLNr) cells resistant to the bifunctional drugs L-phenylalanine mustard (L-PAM, 5-fold resistance), mechlorethamine (9-fold), cisplatin (3-fold), and BCNU (3-fold) were used to investigate the role of DNA repair in the development of resistance to alkylating agents.", "output": {"entities": {"gene": [{"text": "MLNr", "start": 29, "end": 33}], "disease": [{"text": "breast carcinoma", "start": 6, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Clinically amyopathic dermatomyositis (C-ADM) is also reported to be complicated with A/SIP, especially in those patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibody.", "output": {"entities": {"gene": [{"text": "ADM", "start": 41, "end": 44}], "disease": [{"text": "amyopathic dermatomyositis", "start": 11, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In melanoma, RHAMM mRNA expression was detected in metastases (80%) but not in primary tumors.", "output": {"entities": {"gene": [{"text": "RHAMM", "start": 13, "end": 18}], "disease": [{"text": "melanoma", "start": 3, "end": 11}]}, "relations": {}}, "schema": []}
{"input": "CRP and SAP are produced primarily in the liver while PTX3 is produced in a variety of tissues during inflammation.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 54, "end": 58}], "disease": [{"text": "inflammation", "start": 102, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "As part of the Genetic Epidemiology Network of Arteriopathy study, hypertensive non-Hispanic White sibships were screened using 471 single nucleotide polymorphisms (SNPs) to identify genes influencing coronary artery calcification (CAC) measured by computed tomography.", "output": {"entities": {"gene": [{"text": "CAC", "start": 232, "end": 235}], "disease": [{"text": "coronary artery calcification", "start": 201, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "To further validate the role of PIN1 in hepatocarcinogenesis, PIN was suppressed by RNA interference (siRNA) in the HCC cell line PLC/PRF/5.", "output": {"entities": {"gene": [{"text": "PIN1", "start": 32, "end": 36}], "disease": [{"text": "hepatocarcinogenesis", "start": 40, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "However, JAK2 mutations also occur in about 60% of patients with ET, which underlines the need for BM examination in distinguishing JAK2-mutated ET from PV when the hemoglobin/hematocrit level is diagnostically equivocal (ie, as in \" masked \" PV).", "output": {"entities": {"gene": [{"text": "JAK2", "start": 9, "end": 13}], "disease": [{"text": "hemoglobin", "start": 165, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The levels of various chemokines (MIP-1α, MCP-1, IL-8 and IP-10) and chemokine receptors (CXCR1, CXCR2 and CCR1) in neutrophils from healthy individuals and pulmonary tuberculosis patients were studied following infection with Mycobacterium tuberculosis strains (clinical--S7 and S10 and laboratory--H37Rv).", "output": {"entities": {"gene": [{"text": "CXCR2", "start": 97, "end": 102}], "disease": [{"text": "pulmonary tuberculosis", "start": 157, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Selenium status also modifies the effect of the mitochondrial superoxide dismutase (SOD2) SNP Ala16Val on prostate cancer risk.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 84, "end": 88}], "disease": [{"text": "prostate cancer", "start": 106, "end": 121}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOD2", "start": 84, "end": 88}, "tail": {"text": "prostate cancer", "start": 106, "end": 121}}]}}, "schema": []}
{"input": "HbAlc, insulin requirements, body weight, and parameters of the IGF-IGF-binding protein axis were assessed before and during treatment.", "output": {"entities": {"gene": [{"text": "IGF", "start": 64, "end": 67}], "disease": [{"text": "body weight", "start": 29, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated cardiomyopathy (DCM) associated with conduction system disease and/or skeletal myopathy.", "output": {"entities": {"gene": [{"text": "lamin A/C", "start": 17, "end": 26}], "disease": [{"text": "DCM", "start": 100, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lamin A/C", "start": 17, "end": 26}, "tail": {"text": "DCM", "start": 100, "end": 103}}]}}, "schema": []}
{"input": "NEDD4L is involved in the regulation of plasma volume and blood pressure by controlling cell surface expression of the kidney epithelial Na (+) channel.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 0, "end": 6}], "disease": [{"text": "blood pressure", "start": 58, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The results showed ANXA1 down-regulation in dysplastic, tumourous and metastatic lesions and provided evidence for the progressive migration of ANXA1 from the nucleus towards the membrane during laryngeal tumorigenesis.", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 19, "end": 24}], "disease": [{"text": "tumorigenesis", "start": 205, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Fourteen markers were genotyped within two alcohol metabolism genes [Alcohol dehydrogenase (ADH) gene clusters (ADH1B and ADH1C) and Aldehyde dehydrogenase (ALDH2)], one microsomal ethanol oxidizing enzyme cytochrome p450 (CYP2E1) and three oxidative stress response (OSR) genes (MnSOD, GSTT1 and GSTM1) among 490 Bengali individuals (322 ALD and 168 control) from Eastern and North-Eastern India and validation was performed in a new cohort of 150 Bengali patients including 100 ALD and 50 advanced non-alcoholic steatohepatitis (NASH).", "output": {"entities": {"gene": [{"text": "ADH", "start": 92, "end": 95}], "disease": [{"text": "alcoholic steatohepatitis", "start": 504, "end": 529}]}, "relations": {}}, "schema": []}
{"input": "Firm conclusions on the potential interaction between lactobacillus colonization and genetic variations in DC-SIGN in association with the development of allergic disorders cannot be drawn, given the limited power of our study.", "output": {"entities": {"gene": [{"text": "DC-SIGN", "start": 107, "end": 114}], "disease": [{"text": "allergic disorders", "start": 154, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "Plasma soluble HLA-G is a potential biomarker for diagnosis of colorectal, gastric, esophageal and lung cancer.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 15, "end": 20}], "disease": [{"text": "esophageal", "start": 84, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Another mutant that produces a mild renal phenotype (G47R) was capable of performing all functions of wild-type barttin but bound to ClC-K channels less effectively.", "output": {"entities": {"gene": [{"text": "barttin", "start": 112, "end": 119}], "disease": [{"text": "mild", "start": 31, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "There was also a significant difference between the current smoking and nonsmoking groups in the allele frequency of the CCK-45C/T polymorphism.", "output": {"entities": {"gene": [{"text": "CCK", "start": 121, "end": 124}], "disease": [{"text": "smoking", "start": 60, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the BGP foci may play a very important role in the' de novo' colorectal carcinogenesis from the frequent genetic alterations of p53, and that there may be two major pathways, i. e., the p53-APC pathway and the p53 alone pathway, from the chain of genetic alterations between BGP foci and' de novo' carcinoma.", "output": {"entities": {"gene": [{"text": "BGP", "start": 31, "end": 34}], "disease": [{"text": "carcinogenesis", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Microarray and bioinformatics analysis suggested that overexpression of AKR1C3 in PC-3 cells modulates estrogen and androgen metabolism, activates insulin-like growth factor (IGF)-1 and Akt signaling pathways, as well as promotes tumor angiogenesis and aggressiveness.", "output": {"entities": {"gene": [{"text": "IGF", "start": 175, "end": 178}], "disease": [{"text": "aggressiveness", "start": 253, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "We examined 52 SNPs within the SIRT genes (11 in SIRT1, 7 in SIRT2, 14 in SIRT3, 7 in SIRT4, 9 in SIRT5, and 4 in SIRT6) in 3 independent Japanese populations with type 2 diabetes (study 1: 747 cases (overt proteinuria), 557 controls; study 2: 455 cases (overt proteinuria) and 965 controls; study 3: 300 cases (end-stage renal disease) and 218 controls).", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 49, "end": 54}], "disease": [{"text": "end-stage renal disease", "start": 312, "end": 335}]}, "relations": {}}, "schema": []}
{"input": "PHEX is predominantly expressed in bones and teeth and in the parathyroid gland of patients with chronic renal failure and tertiary hyperparathyroidism.]", "output": {"entities": {"gene": [{"text": "PHEX", "start": 0, "end": 4}], "disease": [{"text": "chronic renal failure", "start": 97, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Screening for HPE-associated genes in humans suggests the involvement of NODAL or SHH signaling, or both.", "output": {"entities": {"gene": [{"text": "NODAL", "start": 73, "end": 78}], "disease": [{"text": "HPE", "start": 14, "end": 17}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NODAL", "start": 73, "end": 78}, "tail": {"text": "HPE", "start": 14, "end": 17}}]}}, "schema": []}
{"input": "Store-operated Ca2 + current in prostate cancer epithelial cells. Role of endogenous Ca2 + transporter type 1.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 15, "end": 18}], "disease": [{"text": "prostate cancer", "start": 32, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of Nm23H1 but not H2 also inhibited tumorigenesis by human cervical cancer HeLa cells with p53 deficiency.", "output": {"entities": {"gene": [{"text": "Nm23H1", "start": 18, "end": 24}], "disease": [{"text": "tumorigenesis", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Laboratory markers of low activity of tPA/plasmin were analyzed in 70 schizophrenia adults (DSM-IV), and 98 age-matched controls, consecutively selected at university hospitals.", "output": {"entities": {"gene": [{"text": "plasmin", "start": 42, "end": 49}], "disease": [{"text": "schizophrenia", "start": 70, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "plasmin", "start": 42, "end": 49}, "tail": {"text": "schizophrenia", "start": 70, "end": 83}}]}}, "schema": []}
{"input": "In contrast, the adhesion avidity of the strains was narrow, normally distributed for high, moderate, or low adhesion reference saliva or pure gp340 regardless of the sequence type.", "output": {"entities": {"gene": [{"text": "gp340", "start": 143, "end": 148}], "disease": [{"text": "adhesion", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "GADD45B inhibits MKK7-induced cardiac hypertrophy and the polymorphisms of GADD45B is associated with inter-ventricular septum hypertrophy.", "output": {"entities": {"gene": [{"text": "MKK7", "start": 17, "end": 21}], "disease": [{"text": "cardiac hypertrophy", "start": 30, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Multifocal occurrence, potential malignancy, genetic aspects, possible coincidence of thyroid carcinoma, and hormone production have to be considered in patients with head and neck PGLs.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 181, "end": 185}], "disease": [{"text": "carcinoma", "start": 94, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "However, it was reported that traditionally oncolytic adenovirus lack the HCC specificity.", "output": {"entities": {"gene": [{"text": "HCC", "start": 74, "end": 77}], "disease": [{"text": "adenovirus", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The presence of a translocation of chromosomal material encoding the Testis-Determining Factor from Y to another chromosome has been one of the hypothesis to explain testicular development in XX sex-reversed patients.", "output": {"entities": {"gene": [{"text": "Testis-Determining Factor", "start": 69, "end": 94}], "disease": [{"text": "translocation", "start": 18, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "This study establishes the role of both FHC and pHLA in modulating NK cell cytokine secretion and adhesion functions by interacting with KIR3DL1.", "output": {"entities": {"gene": [{"text": "KIR3DL1", "start": 137, "end": 144}], "disease": [{"text": "adhesion", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "She had no TEF/EA or heart defects.", "output": {"entities": {"gene": [{"text": "TEF", "start": 11, "end": 14}], "disease": [{"text": "heart defects", "start": 21, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Combined prenatal and postnatal expression produced increased aggression and enhanced response to psychostimulants in male mice along with increased linear density of dendritic spines on neurons of the dentate gyrus of the hippocampus, and lower levels of endogenous DISC1 and LIS1.", "output": {"entities": {"gene": [{"text": "DISC1", "start": 267, "end": 272}], "disease": [{"text": "aggression", "start": 62, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we have examined the prevalence of TTV in various types of chronic hepatitis in Japan.", "output": {"entities": {"gene": [{"text": "TTV", "start": 46, "end": 49}], "disease": [{"text": "chronic hepatitis", "start": 70, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "We previously showed that p53 is a major player in cisplatin hypersensitivity and therefore investigated whether Oct-4 may directly affect p53 activity.", "output": {"entities": {"gene": [{"text": "p53", "start": 26, "end": 29}], "disease": [{"text": "hypersensitivity", "start": 61, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "We studied the PEX26 genotype in fibroblasts of eight CG8 patients--four with the ZS phenotype, two with NALD, and two with IRD.", "output": {"entities": {"gene": [{"text": "PEX26", "start": 15, "end": 20}], "disease": [{"text": "NALD", "start": 105, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PEX26", "start": 15, "end": 20}, "tail": {"text": "NALD", "start": 105, "end": 109}}]}}, "schema": []}
{"input": "These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2.", "output": {"entities": {"gene": [{"text": "COL11A2", "start": 129, "end": 136}], "disease": [{"text": "fibrochondrogenesis", "start": 37, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL11A2", "start": 129, "end": 136}, "tail": {"text": "fibrochondrogenesis", "start": 37, "end": 56}}]}}, "schema": []}
{"input": "Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "CCDC114", "start": 41, "end": 48}], "disease": [{"text": "primary ciliary dyskinesia", "start": 63, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCDC114", "start": 41, "end": 48}, "tail": {"text": "primary ciliary dyskinesia", "start": 63, "end": 89}}]}}, "schema": []}
{"input": "This paper reports a summary of our comparative analysis of the uterine expression of interleukin-23 (IL-23), IL-27 and TWEAK in the CBA/J femalexDBA/2 male mouse mating combination, a model of immune-mediated early pregnancy loss.", "output": {"entities": {"gene": [{"text": "IL-27", "start": 110, "end": 115}], "disease": [{"text": "early pregnancy loss", "start": 210, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.", "output": {"entities": {"gene": [{"text": "MRI", "start": 362, "end": 365}], "disease": [{"text": "neurofibromas", "start": 202, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Importantly, a particular mucin gene expression pattern was observed in ileal mucosa close to the ulcer margins in ulcer associated cell lineage, with the appearance of MUC5AC and MUC6 mRNAs and peptides, which are normally restricted to the stomach (MUC5AC and MUC6) and duodenum (MUC6), and disappearance of MUC2.", "output": {"entities": {"gene": [{"text": "MUC2", "start": 310, "end": 314}], "disease": [{"text": "ulcer", "start": 98, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "In the presence of a family history of hypertension and detection of 90 kDa ACE, we noted a maximal flow mediated dilation of 12. 1 +/-5. 0 vs 16. 1 +/-6. 0% in those without a previous history of hypertension and lacking urinary 90 kDa ACE (P < 0. 05).", "output": {"entities": {"gene": [{"text": "ACE", "start": 76, "end": 79}], "disease": [{"text": "dilation", "start": 114, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of Rap1GAP did not enhance the dissociation of cell aggregates nor did it impair the accumulation of β-catenin and E-cadherin at cell-cell contacts.", "output": {"entities": {"gene": [{"text": "Rap1GAP", "start": 18, "end": 25}], "disease": [{"text": "dissociation", "start": 46, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Recently, it was reported that CTF translocated into the nucleus, binding with Fe65 and CP2, and in turn, affected transcription of genes including glycogen synthase kinase-3beta, which results in the induction of tau-rich neurofibrillary tangles and subsequently cell death.", "output": {"entities": {"gene": [{"text": "Fe65", "start": 79, "end": 83}], "disease": [{"text": "neurofibrillary tangles", "start": 223, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Additionally, xenografts derived from HSulf-1-expressing stable clones of carcinoma cells showed reduced vessel density, marked necrosis, and apoptosis, indicative of inhibition of angiogenesis.", "output": {"entities": {"gene": [{"text": "HSulf-1", "start": 38, "end": 45}], "disease": [{"text": "necrosis", "start": 128, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The expression of CD80, CD86, CD83, and S-100 proteins was assessed in esophageal carcinoma tissues using immunohistochemical method.", "output": {"entities": {"gene": [{"text": "CD86", "start": 24, "end": 28}], "disease": [{"text": "esophageal carcinoma", "start": 71, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "WISE enrolled women with symptoms and signs of ischemia referred for coronary angiography; WTH enrolled asymptomatic, community-based women without heart disease.", "output": {"entities": {"gene": [{"text": "WISE", "start": 0, "end": 4}], "disease": [{"text": "asymptomatic", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "To gain further information on this topic, we compared TPO levels and platelet counts in two series of patients hospitalized for acute illnesses: one with strong elevation of both erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), and the other with normal values.", "output": {"entities": {"gene": [{"text": "TPO", "start": 55, "end": 58}], "disease": [{"text": "erythrocyte sedimentation rate", "start": 180, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200).", "output": {"entities": {"gene": [{"text": "OPG", "start": 23, "end": 26}], "disease": [{"text": "gliomas", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Although the pattern was similar to the DBP response, alpha (1A)-AR Cys347 allelic carriers had only a moderately increased systolic blood pressure (SBP) response at the 2 time points.", "output": {"entities": {"gene": [{"text": "DBP", "start": 40, "end": 43}], "disease": [{"text": "systolic blood pressure", "start": 124, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We tested the following hypotheses for HASMCs: 1) smoking with or without airway obstruction modulates IL-8, GM-CSF, and VEGF release; and 2) corticosteroids, but not resveratrol, fail to inhibit cytokine release in COPD.", "output": {"entities": {"gene": [{"text": "GM-CSF", "start": 109, "end": 115}], "disease": [{"text": "smoking", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "SNAP-25 gene polymorphisms and weight gain in schizophrenic patients.", "output": {"entities": {"gene": [{"text": "SNAP-25", "start": 0, "end": 7}], "disease": [{"text": "weight gain", "start": 31, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to analyse whether HLA-DR alleles play a role in the resistance or susceptibility to streptococci-related disorders including rheumatic heart disease (RHD) as a sequela of ARF and recurrent streptococcal pharyngitis in Turkish patients.", "output": {"entities": {"gene": [{"text": "ARF", "start": 198, "end": 201}], "disease": [{"text": "streptococcal pharyngitis", "start": 216, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "To determine whether patients with schizophrenia and bipolar disorder have different thalamic expression patterns of 2 homeobox genes, DLX1 and SHOX2 (alias OG12X or SHOT) compared with psychiatric and nonpsychiatric control subjects.", "output": {"entities": {"gene": [{"text": "homeobox", "start": 119, "end": 127}], "disease": [{"text": "bipolar disorder", "start": 53, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "homeobox", "start": 119, "end": 127}, "tail": {"text": "bipolar disorder", "start": 53, "end": 69}}]}}, "schema": []}
{"input": "Plasma NGAL may play a role in the development of insulin resistance in GDM, and the high levels of NGAL expression in SAT in overweight women with GDM suggests that NGAL in SAT is associated with obesity in women with GDM.", "output": {"entities": {"gene": [{"text": "NGAL", "start": 7, "end": 11}], "disease": [{"text": "overweight", "start": 126, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Combining adenosine deaminase with propranolol further reduced peak conductance and the hyperemia volume compared with enzyme pretreatment alone.", "output": {"entities": {"gene": [{"text": "adenosine deaminase", "start": 10, "end": 29}], "disease": [{"text": "hyperemia", "start": 88, "end": 97}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "adenosine deaminase", "start": 10, "end": 29}, "tail": {"text": "hyperemia", "start": 88, "end": 97}}]}}, "schema": []}
{"input": "The ACT polymorphism was analysed in 218 sporadic late-onset AD patients and 101 healthy control subjects from Eastern Finland.", "output": {"entities": {"gene": [{"text": "ACT", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In advanced atherosclerotic lesions, TIMP4 was detected around necrotic lipid cores, whereas TIMP3 and caspase 3 resided within and around the core regions, indicating different roles for TIMP3 and TIMP4 in inflammation-induced apoptosis and in matrix turnover.", "output": {"entities": {"gene": [{"text": "caspase 3", "start": 103, "end": 112}], "disease": [{"text": "necrotic", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.", "output": {"entities": {"gene": [{"text": "COL2A1", "start": 197, "end": 203}], "disease": [{"text": "Kniest dysplasia", "start": 208, "end": 224}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL2A1", "start": 197, "end": 203}, "tail": {"text": "Kniest dysplasia", "start": 208, "end": 224}}]}}, "schema": []}
{"input": "The aggressiveness of human gliomas appears to be correlated with the upregulation of interleukin 6 (IL-6) gene.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 101, "end": 105}], "disease": [{"text": "aggressiveness", "start": 4, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "Mosquito salivary gland extracts induce EBV-infected NK cell oncogenesis via CD4 T cells in patients with hypersensitivity to mosquito bites.", "output": {"entities": {"gene": [{"text": "CD4", "start": 77, "end": 80}], "disease": [{"text": "hypersensitivity", "start": 106, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Painful hypersensitivity to norepinephrine (NE) has been reported in various chronic pain conditions that exhibit sympathetically-maintained pain (SMP), particularly CRPS-I and II.", "output": {"entities": {"gene": [{"text": "SMP", "start": 147, "end": 150}], "disease": [{"text": "hypersensitivity", "start": 8, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.", "output": {"entities": {"gene": [{"text": "SMC1L1", "start": 78, "end": 84}], "disease": [{"text": "X-linked Cornelia de Lange syndrome", "start": 35, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMC1L1", "start": 78, "end": 84}, "tail": {"text": "X-linked Cornelia de Lange syndrome", "start": 35, "end": 70}}]}}, "schema": []}
{"input": "The pathogenesis of the drug-induced valvulopathy is considered FGFR1c-mediated, based on the specificity of the mAbs and FGFR1 mRNA expression in the heart valves.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 64, "end": 69}], "disease": [{"text": "valvulopathy", "start": 37, "end": 49}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR1", "start": 64, "end": 69}, "tail": {"text": "valvulopathy", "start": 37, "end": 49}}]}}, "schema": []}
{"input": "Regarding WASP function in cytoskeletal organization, we investigated whether these platelet abnormalities could be due to a defect in proplatelet formation or in megakaryocyte (MK) migration.", "output": {"entities": {"gene": [{"text": "WASP", "start": 10, "end": 14}], "disease": [{"text": "platelet abnormalities", "start": 84, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We report on a secreted protein found in mammalian cochlear outer hair cells (OHC) that is a member of the carcinoembryonic antigen-related cell adhesion molecule (CEACAM) family of adhesion proteins.", "output": {"entities": {"gene": [{"text": "carcinoembryonic antigen", "start": 107, "end": 131}], "disease": [{"text": "adhesion", "start": 145, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia.", "output": {"entities": {"gene": [{"text": "CACNA1B", "start": 83, "end": 90}], "disease": [{"text": "bipolar disorder", "start": 190, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CACNA1B", "start": 83, "end": 90}, "tail": {"text": "bipolar disorder", "start": 190, "end": 206}}]}}, "schema": []}
{"input": "Depression of MAD2 inhibits apoptosis of gastric cancer cells by upregulating Bcl-2 and interfering mitochondrion pathway.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 78, "end": 83}], "disease": [{"text": "Depression", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 78, "end": 83}, "tail": {"text": "Depression", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "Amplification of the HER-2 receptor tyrosine kinase has been implicated in the pathogenesis and aggressive behavior of approximately 25% of invasive human breast cancers.", "output": {"entities": {"gene": [{"text": "HER-2", "start": 21, "end": 26}], "disease": [{"text": "aggressive behavior", "start": 96, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "The birth weight lowering effect of the C-allele of rs900400 located near LEKR1 and CCNL1 was replicated in the Danish population.", "output": {"entities": {"gene": [{"text": "LEKR1", "start": 74, "end": 79}], "disease": [{"text": "birth weight", "start": 4, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "In addition, some studies indicated that MTA1 participated in invasion, metastasis, and survival of cancer cells by regulating cell migration, adhesion and proliferation.", "output": {"entities": {"gene": [{"text": "MTA1", "start": 41, "end": 45}], "disease": [{"text": "adhesion", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in intron 2, exon 3, and the 3'-UTR were in statistically significant linkage disequilibrium with diabetes in the case-control group (P = 0. 006), but not the sibling pairs (P = 0. 097).", "output": {"entities": {"gene": [{"text": "UTR", "start": 46, "end": 49}], "disease": [{"text": "diabetes", "start": 112, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "By analyzing lung cancer transcriptome sequencing and genomic data, we identified a novel R3HDM2-NFE2 fusion in the H1792 cell line.", "output": {"entities": {"gene": [{"text": "R3HDM2", "start": 90, "end": 96}], "disease": [{"text": "lung cancer", "start": 13, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "A critical role for PKR complexes with TRBP in Immunometabolic regulation and eIF2α phosphorylation in obesity.", "output": {"entities": {"gene": [{"text": "TRBP", "start": 39, "end": 43}], "disease": [{"text": "obesity", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Cx43 siRNA, but not mismatch siRNA, alleviated mechanical hypersensitivity in SNL rats.", "output": {"entities": {"gene": [{"text": "SNL", "start": 78, "end": 81}], "disease": [{"text": "hypersensitivity", "start": 58, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 14, "end": 22}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Methylation-dependent activation of CDX1 through NF-κB: a link from inflammation to intestinal metaplasia in the human stomach.", "output": {"entities": {"gene": [{"text": "CDX1", "start": 36, "end": 40}], "disease": [{"text": "inflammation", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In neonatal diabetes mellitus resulting from mutations in EIF2AK3, PTF1A, HNF1B, PDX1 or RFX6, pancreatic aplasia or hypoplasia is typical.", "output": {"entities": {"gene": [{"text": "RFX6", "start": 89, "end": 93}], "disease": [{"text": "pancreatic aplasia", "start": 95, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "We have identified six nucleotide changes in the cystatin B gene of non-Finnish EPM1 families from northern Africa and Europe.", "output": {"entities": {"gene": [{"text": "cystatin B", "start": 49, "end": 59}], "disease": [{"text": "EPM1", "start": 80, "end": 84}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cystatin B", "start": 49, "end": 59}, "tail": {"text": "EPM1", "start": 80, "end": 84}}]}}, "schema": []}
{"input": "In this study we have examined the effect of single-gene deletions for interferon (IFN)-gamma, interleukin (IL)-4, IL-6 or CD28 in B10. S (H-2 (s)) mice on heavy metal-induced autoimmunity.", "output": {"entities": {"gene": [{"text": "B10", "start": 131, "end": 134}], "disease": [{"text": "autoimmunity", "start": 176, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We have shown previously that \" sporadic \" MMP + colon cancers exhibit a paradoxical low incidence of somatic mutations in the p53 tumor suppressor gene and the c-K-ras proto-oncogene.", "output": {"entities": {"gene": [{"text": "p53 tumor suppressor gene", "start": 127, "end": 152}], "disease": [{"text": "sporadic", "start": 32, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show how Ras activation causes aberrant nuclear localization of phosphorylated mitogen-activated protein (MAP)/extracellular signal-regulated kinase (ERK; MEK) MEK1/2 to drive neoplastic transformation.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 178, "end": 182}], "disease": [{"text": "neoplastic transformation", "start": 194, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "Arginase type II (ARG2), ethylmalonic encephalopathy 1 (ETHE1), transmembrane protein 176A (TMEM176A) and TMEM176B genes were significantly confirmed in the validation set.", "output": {"entities": {"gene": [{"text": "TMEM176A", "start": 92, "end": 100}], "disease": [{"text": "ethylmalonic encephalopathy", "start": 25, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Non-allele-specific ALK RT-qPCR revealed ALK overexpression and 5' RACE PCR revealed that the patient' s lymphoma expressed a TRAF1-ALK fusion.", "output": {"entities": {"gene": [{"text": "RACE", "start": 67, "end": 71}], "disease": [{"text": "lymphoma", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "KCND3 mutations cause SCA19 by impaired protein maturation and/or reduced channel function.", "output": {"entities": {"gene": [{"text": "KCND3", "start": 0, "end": 5}], "disease": [{"text": "SCA19", "start": 22, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCND3", "start": 0, "end": 5}, "tail": {"text": "SCA19", "start": 22, "end": 27}}]}}, "schema": []}
{"input": "Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles.", "output": {"entities": {"gene": [{"text": "DYT11", "start": 34, "end": 39}], "disease": [{"text": "Myoclonus-dystonia syndrome", "start": 0, "end": 27}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DYT11", "start": 34, "end": 39}, "tail": {"text": "Myoclonus-dystonia syndrome", "start": 0, "end": 27}}]}}, "schema": []}
{"input": "In comparison with UCP3-55CC carriers, children carrying-55CT and TT showed a significant reduction in the risk of overweight (OR, 0. 67; 95% CI, 0. 46-0. 98; P = 0. 039).", "output": {"entities": {"gene": [{"text": "UCP3", "start": 19, "end": 23}], "disease": [{"text": "overweight", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The association between SNPs and plasma PTX3 levels was tested across genotypes in a subset of recipients with idiopathic pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 40, "end": 44}], "disease": [{"text": "idiopathic pulmonary fibrosis", "start": 111, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Selective GPR55 antagonism reduces chemoresistance in cancer cells.", "output": {"entities": {"gene": [{"text": "GPR55", "start": 10, "end": 15}], "disease": [{"text": "cancer", "start": 54, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR55", "start": 10, "end": 15}, "tail": {"text": "cancer", "start": 54, "end": 60}}]}}, "schema": []}
{"input": "Higher perilipin 2, angiopoietin-like 4 and fatty-acid binding protein 4 mRNA levels in OP suggest activation of other transcription factors or hypoxic conditions in OP bone.", "output": {"entities": {"gene": [{"text": "perilipin 2", "start": 7, "end": 18}], "disease": [{"text": "hypoxic", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The expression pattern of genes known to be involved in the pathogenesis of sporadic CRC was assessed immunohistochemically: E-cadherin, beta-catenin, deleted in colon cancer (DCC), and p53.", "output": {"entities": {"gene": [{"text": "p53", "start": 186, "end": 189}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Efficient cross-presentation of disulfide-rich antigens requires a complex pathway involving GILT-mediated reduction, unfolding, and partial proteolysis, followed by translocation into the cytosol for proteasomal processing.", "output": {"entities": {"gene": [{"text": "GILT", "start": 93, "end": 97}], "disease": [{"text": "translocation", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The effect of early intervention with a peroxisome proliferator-activated receptor-gamma (PPARgamma) agonist on skeletal muscle GLUT4 translocation and insulin signaling was examined in intrauterine (IUGR) and postnatal (PNGR) growth-restricted pregestational female rat offspring.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor-gamma", "start": 40, "end": 88}], "disease": [{"text": "translocation", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "At preoperative evaluation, 54% of the study group had a well-differentiated HCC, 42% had AFP mRNA in the blood, 40% had a tumor larger than 5 cm and 56% had more than one nodule.", "output": {"entities": {"gene": [{"text": "HCC", "start": 77, "end": 80}], "disease": [{"text": "nodule", "start": 172, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "METHODS: We evaluated the methylation status of four genes (TGFB2, SLIT2, HS3ST2, and TMEFF2) in biopsies of four groups of patients: 60 patients with sporadic CRC, 32 patients with IBD-associated neoplasia, 85 patients with IBD without associated neoplasia (20 at high risk and 65 at low risk), and 28 healthy controls.", "output": {"entities": {"gene": [{"text": "TMEFF2", "start": 86, "end": 92}], "disease": [{"text": "sporadic", "start": 151, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "NIK-and IKKβ-binding protein promotes colon cancer metastasis by activating the classical NF-κB pathway and MMPs.", "output": {"entities": {"gene": [{"text": "NIK", "start": 0, "end": 3}], "disease": [{"text": "colon cancer", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.", "output": {"entities": {"gene": [{"text": "fumarylacetoacetase", "start": 54, "end": 73}], "disease": [{"text": "tyrosinemia type 1", "start": 87, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fumarylacetoacetase", "start": 54, "end": 73}, "tail": {"text": "tyrosinemia type 1", "start": 87, "end": 105}}]}}, "schema": []}
{"input": "Notch3 and Notch4 are not expressed in normal liver and in chronic hepatitis surrounding HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 89, "end": 92}], "disease": [{"text": "chronic hepatitis", "start": 59, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Among pulmonary tuberculosis patients (PTB), Esp1 (3/11) and Esp6 (5/11) were recognized.", "output": {"entities": {"gene": [{"text": "Esp1", "start": 45, "end": 49}], "disease": [{"text": "pulmonary tuberculosis", "start": 6, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "We compared the density of neurofibrillary tangles (NT) and neuritic (senile) plaques (NP) in 10 cortical areas, the amygdala, the hippocampus, the parahippocampal gyrus, and the cerebellum in patients with familial (FAD) and sporadic (SAD) Alzheimer' s disease with early (< 55 years), intermediate (55-70 years) and late (> 70 years) ages of onset of dementia and age-matched controls.", "output": {"entities": {"gene": [{"text": "FAD", "start": 217, "end": 220}], "disease": [{"text": "sporadic", "start": 226, "end": 234}]}, "relations": {}}, "schema": []}
{"input": "Since HCC develops mainly in patients with chronic hepatitis or cirrhosis induced by viral or inflammatory factors, understanding the role of LECT2 in liver carcinogenesis is of interest and may lead to new therapeutic perspectives.", "output": {"entities": {"gene": [{"text": "HCC", "start": 6, "end": 9}], "disease": [{"text": "chronic hepatitis", "start": 43, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "There is still controversy over the role of TTV in chronic hepatitis.", "output": {"entities": {"gene": [{"text": "TTV", "start": 44, "end": 47}], "disease": [{"text": "chronic hepatitis", "start": 51, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Reduced thrombosis in Klkb1-/-mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor.", "output": {"entities": {"gene": [{"text": "Mas", "start": 60, "end": 63}], "disease": [{"text": "thrombosis", "start": 8, "end": 18}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Mas", "start": 60, "end": 63}, "tail": {"text": "thrombosis", "start": 8, "end": 18}}]}}, "schema": []}
{"input": "Three hundred and eight unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions.", "output": {"entities": {"gene": [{"text": "CYP21A2", "start": 34, "end": 41}], "disease": [{"text": "21-OHD", "start": 58, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CYP21A2", "start": 34, "end": 41}, "tail": {"text": "21-OHD", "start": 58, "end": 64}}]}}, "schema": []}
{"input": "We also observed that CST6, CXCL14, DHRS3, and SPP1 were associated with PTC lymph node metastasis, with CST6, CXCL14, and SPP1 being positively correlated with metastasis and DHRS3 being negatively correlated.", "output": {"entities": {"gene": [{"text": "SPP1", "start": 47, "end": 51}], "disease": [{"text": "lymph node metastasis", "start": 77, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "These observations indicate that IL-21 amplifies an inflammatory milieu that promotes CAC, and suggest that IL-21 blockade may be useful in reducing the risk of UC-associated colon cancer.", "output": {"entities": {"gene": [{"text": "CAC", "start": 86, "end": 89}], "disease": [{"text": "colon cancer", "start": 175, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "In AMI patients with in-hospital complications (n = 15; pump failure in ten, recurrent myocardial infarction in one, malignant ventricular arrhythmia in three and cardiac death in one), spontaneous and stimulated levels of TACE and TNF-alpha were higher than in patients without complications (P < 0. 01).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 232, "end": 241}], "disease": [{"text": "cardiac death", "start": 163, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, transplantation of normal hepatocytes prevented fulminant hepatitis, reduces chronic inflammation, and improved 6-month survival in LEC rats.", "output": {"entities": {"gene": [{"text": "LEC", "start": 147, "end": 150}], "disease": [{"text": "fulminant hepatitis", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Whereas the involvement of the NF1 gene in neurofibroma development in NF1 patients has been fairly well characterized, the significance of inactivation of this gene in sporadic neurofibromas remains less well investigated.", "output": {"entities": {"gene": [{"text": "NF1 gene", "start": 31, "end": 39}], "disease": [{"text": "sporadic", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype.", "output": {"entities": {"gene": [{"text": "NIPAL4", "start": 31, "end": 37}], "disease": [{"text": "ARCI", "start": 128, "end": 132}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NIPAL4", "start": 31, "end": 37}, "tail": {"text": "ARCI", "start": 128, "end": 132}}]}}, "schema": []}
{"input": "It acts via two distinct receptors, ET-A and ET-B, and is involved in inflammation and atherogenesis.", "output": {"entities": {"gene": [{"text": "ET-A", "start": 36, "end": 40}], "disease": [{"text": "inflammation", "start": 70, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Autozygosity mapping and exome sequencing identified a homozygous frameshift deletion (c. 811delA; p. Ser271fs) in & lt; i & gt; KRT83 & lt;/i & gt;, which co-segregated with the PSEK phenotype in the family and which is expected to abolish keratin 83, a type II keratin of hair and skin.", "output": {"entities": {"gene": [{"text": "keratin 83", "start": 241, "end": 251}], "disease": [{"text": "PSEK", "start": 179, "end": 183}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 83", "start": 241, "end": 251}, "tail": {"text": "PSEK", "start": 179, "end": 183}}]}}, "schema": []}
{"input": "A total of 102 SCD patients underwent biomicroscopical and retinal examination, in addition to evaluations of haemoglobin (Hb) and haematocrit (Ht) levels, fetal haemoglobin (HbF) estimations, serum creatinine and albuminuria levels, glomerular filtration rate (GFR) values, phenotypes, beta-globin gene haplotypes and alpha-thalassaemia.", "output": {"entities": {"gene": [{"text": "GFR", "start": 262, "end": 265}], "disease": [{"text": "albuminuria", "start": 214, "end": 225}]}, "relations": {}}, "schema": []}
{"input": "Methylation analysis in four genes (MDR1, IL8, RARB, TGFBR2) previously linked to HNSCC or inflammation shows significantly increased methylation in tumor samples compared with normal oral mucosa.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 53, "end": 59}], "disease": [{"text": "inflammation", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Notably, cDNA sequencing of Wnt/beta-catenin pathway regulatory genes, including adenomatous polyposis coli, GSK3beta, axin 1, beta-catenin, lymphoid enhancer factor-1, cyclin D1, and c-myc, revealed a novel in-frame splice deletion of the GSK3beta kinase domain in the GMP of BC samples that was not detectable by sequencing in blasts or normal progenitors.", "output": {"entities": {"gene": [{"text": "GMP", "start": 270, "end": 273}], "disease": [{"text": "adenomatous polyposis coli", "start": 81, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Associations between PITX2 methylation and biochemical recurrence were assessed using the log rank test and Cox regression controlling for prostate cancer features.", "output": {"entities": {"gene": [{"text": "PITX2", "start": 21, "end": 26}], "disease": [{"text": "regression", "start": 112, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Polypeptide YY (PYY) cells and tissue levels of PYY, SP and VIP were significantly decreased in the IL-2-/-mice during the course of bowel inflammation compared with the healthy IL-2 +/-and IL-2 +/+ controls.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 100, "end": 104}], "disease": [{"text": "inflammation", "start": 139, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Proviral DNA coding for the Tax protein was found by polymerase chain reaction amplification in DNA extracted from lesions of every patient with TSP/HAM or HTLV-I-associated polymyositis.", "output": {"entities": {"gene": [{"text": "TSP", "start": 145, "end": 148}], "disease": [{"text": "polymyositis", "start": 174, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the L1CAM gene produce a phenotype characterised by X linked hydrocephalus, mental retardation, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 17, "end": 22}], "disease": [{"text": "X linked hydrocephalus", "start": 65, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 17, "end": 22}, "tail": {"text": "X linked hydrocephalus", "start": 65, "end": 87}}]}}, "schema": []}
{"input": "For the second aim, we performed CDY1-DAZ gene dosage in 229 infertile patients and 263 normozoospermic controls.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 38, "end": 41}], "disease": [{"text": "infertile", "start": 61, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Moderately immunogenic HPV16-associated tumours TC-1 (MHC class I +, HPV16 E6/E7 +, G12V Ha-ras +) and MK16/1/IIIABC (MK16, MHC class I-, HPV16 E6/E7 +, G12V Ha-ras +), both of the H-2b haplotype and transplanted in syngeneic mice, were used to examine the effects of local IL-2 and GM-CSF cytokine or gene therapy in the treatment of minimal residual tumour disease.", "output": {"entities": {"gene": [{"text": "TC-1", "start": 48, "end": 52}], "disease": [{"text": "residual tumour", "start": 343, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "Possible future targeting for \" hypoxic \" glioma cells includes the targets for the AP-1 transcription factor complex (FOS), as well as blockade of the enzyme AKR1C3 with nonsteroidal anti-inflammatory drugs.", "output": {"entities": {"gene": [{"text": "FOS", "start": 119, "end": 122}], "disease": [{"text": "hypoxic", "start": 32, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE (SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains.", "output": {"entities": {"gene": [{"text": "ERCC2", "start": 36, "end": 41}], "disease": [{"text": "XP group D", "start": 57, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ERCC2", "start": 36, "end": 41}, "tail": {"text": "XP group D", "start": 57, "end": 67}}]}}, "schema": []}
{"input": "In addition, strong expression of SAA mRNA and protein was found in the ovarian carcinoma cell line OVCAR-3.", "output": {"entities": {"gene": [{"text": "SAA", "start": 34, "end": 37}], "disease": [{"text": "ovarian carcinoma", "start": 72, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).", "output": {"entities": {"gene": [{"text": "MTR", "start": 139, "end": 142}], "disease": [{"text": "microsatellite instability", "start": 292, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "SAT1 cortical expression levels were also found to be significantly lower in an independent sample of German subjects with major depression who died by suicide in comparison with controls.", "output": {"entities": {"gene": [{"text": "SAT1", "start": 0, "end": 4}], "disease": [{"text": "major depression", "start": 123, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SAT1", "start": 0, "end": 4}, "tail": {"text": "major depression", "start": 123, "end": 139}}]}}, "schema": []}
{"input": "Thus TSP-1 might mediate AGE-induced distal renal tubule hypertrophy.", "output": {"entities": {"gene": [{"text": "TSP-1", "start": 5, "end": 10}], "disease": [{"text": "hypertrophy", "start": 57, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that caveolin-1 protein expression is consistently reduced in a panel of lung and cervical cancer derived cell lines and that this reduction is not due to hyperactivation of p42/44 MAP kinase (a known negative regulator of caveolin-1 transcription).", "output": {"entities": {"gene": [{"text": "p42", "start": 188, "end": 191}], "disease": [{"text": "cervical cancer", "start": 96, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Long-term antidepressant treatment restores clonidine' s effect on growth hormone secretion in a genetic animal model of depression.", "output": {"entities": {"gene": [{"text": "growth hormone", "start": 67, "end": 81}], "disease": [{"text": "depression", "start": 121, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "growth hormone", "start": 67, "end": 81}, "tail": {"text": "depression", "start": 121, "end": 131}}]}}, "schema": []}
{"input": "At low nanomolar concentrations, BPA, TBBPA, and TCBPA decreased chemerin expression and secretion only in granulosa cell tumor COV434 cells by both peroxisome proliferator-activated receptor & #947; and estrogen receptor signaling pathways.", "output": {"entities": {"gene": [{"text": "chemerin", "start": 65, "end": 73}], "disease": [{"text": "granulosa cell tumor", "start": 107, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "chemerin", "start": 65, "end": 73}, "tail": {"text": "granulosa cell tumor", "start": 107, "end": 127}}]}}, "schema": []}
{"input": "The efficacy of CHK1 inhibitors is not altered by hypoxia, but is enhanced after reoxygenation.", "output": {"entities": {"gene": [{"text": "CHK1", "start": 16, "end": 20}], "disease": [{"text": "hypoxia", "start": 50, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "The next best SNP was rs12201676 located at 6q15 (p = 2. 67 & #215; 10 (-4), 2. 12 & #215; 10 (-5), 3. 88 & #215; 10 (-8) for schizophrenia, bipolar disorder and meta-analysis, respectively), near two flanking genes, GABRR1 and GABRR2 (15 and 17kb away, respectively).", "output": {"entities": {"gene": [{"text": "GABRR1", "start": 217, "end": 223}], "disease": [{"text": "bipolar disorder", "start": 141, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABRR1", "start": 217, "end": 223}, "tail": {"text": "bipolar disorder", "start": 141, "end": 157}}]}}, "schema": []}
{"input": "The present findings are the first to disclose an association between the pro-ghrelin and GHS-R1A genes and heavy alcohol use, further strengthening the role of the ghrelin system in addictive behaviors and brain reward.", "output": {"entities": {"gene": [{"text": "GHS-R1A", "start": 90, "end": 97}], "disease": [{"text": "heavy alcohol use", "start": 108, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GHS-R1A", "start": 90, "end": 97}, "tail": {"text": "heavy alcohol use", "start": 108, "end": 125}}]}}, "schema": []}
{"input": "Methylation-specific PCR (MSP) analysis showed that four of 13 ovarian cancer cell lines and two of 17 primary ovarian cancers had methylated SFRP1, while an immortalized ovarian epithelial cell line, HOSE, and seven ovarian endometrial cyst samples did not.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 142, "end": 147}], "disease": [{"text": "endometrial cyst", "start": 225, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Follicular thyroid carcinoma but not adenoma recruits tumor-associated macrophages by releasing CCL15.", "output": {"entities": {"gene": [{"text": "CCL15", "start": 96, "end": 101}], "disease": [{"text": "tumor", "start": 54, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "CLPTM1L expression was required in vitro for morphologic transformation by H-RasV12 or K-RasV12, anchorage-independent growth, and survival of anoikis of lung tumor cells.", "output": {"entities": {"gene": [{"text": "CLPTM1L", "start": 0, "end": 7}], "disease": [{"text": "lung tumor", "start": 154, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CLPTM1L", "start": 0, "end": 7}, "tail": {"text": "lung tumor", "start": 154, "end": 164}}]}}, "schema": []}
{"input": "In this study, the clinical value of reverse transcription-polymerase chain reaction (RT-PCR) to amplify mRNA for tyrosine hydroxylase (TH) and magnetic resonance imaging (MRI) during the clinical course of patients with advanced neuroblastoma, was evaluated.", "output": {"entities": {"gene": [{"text": "MRI", "start": 172, "end": 175}], "disease": [{"text": "neuroblastoma", "start": 230, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "NAT are polymorphic in the population and metabolize important carcinogenic products directly involved in the tumor initiation process.", "output": {"entities": {"gene": [{"text": "NAT", "start": 0, "end": 3}], "disease": [{"text": "tumor initiation", "start": 110, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The males bearing alcoholism-susceptible homozygotes at both loci (inactive ADH1B Arg/Arg and active ALDH2 Glu/Glu genotypes) have a 10 times greater risk for suicide compared with the males bearing alcoholism-protective homozygotes at both loci.", "output": {"entities": {"gene": [{"text": "ALDH2", "start": 101, "end": 106}], "disease": [{"text": "suicide", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "This comprehensive analysis of literature-based candidate genes suggests that SNPs in several candidate genes, including TGFB1, IL1RL1, IL18R1, and DPP10, might contribute to childhood asthma susceptibility in a Mexican population.", "output": {"entities": {"gene": [{"text": "TGFB1", "start": 121, "end": 126}], "disease": [{"text": "asthma susceptibility", "start": 185, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "GRIP1 (-/-) embryos develop abnormalities of the dermo-epidermal junction, resulting in extensive skin blistering around day 12 of embryonic life.", "output": {"entities": {"gene": [{"text": "GRIP1", "start": 0, "end": 5}], "disease": [{"text": "abnormalities", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Comparing genotypes for measures of poor lung function, inflammation, and admission to intensive care, these authors identified three variants of the SP-A gene SFTPA2 that positively correlated with flu severity.", "output": {"entities": {"gene": [{"text": "SP-A", "start": 150, "end": 154}], "disease": [{"text": "flu", "start": 199, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Among some SAD patients, it is possible that the sustained ingestion of high-fat diet will rather activate the transcription of the neuropeptide Y gene than deactivate it, indicating a defect in macronutrient selection.", "output": {"entities": {"gene": [{"text": "neuropeptide Y", "start": 132, "end": 146}], "disease": [{"text": "SAD", "start": 11, "end": 14}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "neuropeptide Y", "start": 132, "end": 146}, "tail": {"text": "SAD", "start": 11, "end": 14}}]}}, "schema": []}
{"input": "And higher expression of SPRY4-IT1 was found in renal cancer cell lines compared with the normal human proximal tubule epithelial cell line HK-2.", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 25, "end": 34}], "disease": [{"text": "renal cancer", "start": 48, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "On the contrary, DOK1 was found to be strongly overexpressed in serous EOC tumors as compared to normal tissue and importantly, DOK1 overexpression significantly correlated with improved progression-free survival (PFS) values of serous EOC patients.", "output": {"entities": {"gene": [{"text": "DOK1", "start": 17, "end": 21}], "disease": [{"text": "tumors", "start": 75, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Finally, T cells from low-IFN-response patients exhibited functional abnormalities, including decreased expression of activation markers CD69, CD25, and CD71; TH1 cytokines interleukin-2, IFN-gamma, and tumor necrosis factor alpha, and reduced survival following stimulation with anti-CD3/CD28 antibodies compared to controls.", "output": {"entities": {"gene": [{"text": "CD71", "start": 153, "end": 157}], "disease": [{"text": "abnormalities", "start": 69, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Thus, altered SERT activity represents a potential contributor to serotonergic abnormalities in TD.", "output": {"entities": {"gene": [{"text": "SERT", "start": 14, "end": 18}], "disease": [{"text": "abnormalities", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "C57Bl/J6 mice were treated with vehicle, CoPP (20 mg/kg), CoPP plus the HO-1 inhibitor tin protoporphyrin (SnPP; 20 mg/kg) or SnPP alone for 18 h. Intravital microscopy was used to quantitate thrombus formation in cremaster arterioles in response to laser ablation of the endothelium.", "output": {"entities": {"gene": [{"text": "HO", "start": 72, "end": 74}], "disease": [{"text": "thrombus", "start": 192, "end": 200}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "HO", "start": 72, "end": 74}, "tail": {"text": "thrombus", "start": 192, "end": 200}}]}}, "schema": []}
{"input": "Several transgenic mouse models of Hippo pathway members (Nf2, Mob1, LATS1 and YAP1 mutants) develop various types of sarcoma.", "output": {"entities": {"gene": [{"text": "Mob1", "start": 63, "end": 67}], "disease": [{"text": "sarcoma", "start": 118, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The IGF-1R-expression correlated positively with the MIB-1 index in neurofibroma (r = 0. 372, p = 0. 021, N = 38).", "output": {"entities": {"gene": [{"text": "MIB-1", "start": 53, "end": 58}], "disease": [{"text": "neurofibroma", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "The patients who developed impotence were maintained on higher doses of sulpiride and exhibited higher prolactin levels in comparison to the potent patients.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 103, "end": 112}], "disease": [{"text": "impotence", "start": 27, "end": 36}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prolactin", "start": 103, "end": 112}, "tail": {"text": "impotence", "start": 27, "end": 36}}]}}, "schema": []}
{"input": "The persistently expanded TCR-beta chain sequences of CD4 + peripheral blood T cells were identifiable in genomic DNA isolated from archival tissue of intestine from subjects with Crohn' s disease and ulcerative colitis by Southern blotting and direct DNA sequencing.", "output": {"entities": {"gene": [{"text": "CD4", "start": 54, "end": 57}], "disease": [{"text": "ulcerative colitis", "start": 201, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "We have shown that MM cells express the cell surface adhesion molecules CD29/CDw49d (VLA-4), CD18/CD11a (LFA-1) and CD44, and may localize to marrow via specific adherence to both extracellular matrix proteins and to bone marrow stromal cells (BMSCs).", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 105, "end": 110}], "disease": [{"text": "adhesion", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "MRI performed at 4 months of age showed tight posterior fossa, bilateral perisylvian polymicrogyria, enlargement of the straight sinus, and a thickened corpus callosum.", "output": {"entities": {"gene": [{"text": "MRI", "start": 0, "end": 3}], "disease": [{"text": "enlargement", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "LOX affects the EMT of gastric cancer cells in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "LOX", "start": 0, "end": 3}], "disease": [{"text": "hypoxic", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Excessive CD14 mRNA expression may enhance synthesis and release of TNF-alpha stimulated by endotoxin translocation, and the interaction between CD14 and TNF-alpha may play an important role in mediating multiple organ damage secondary to major burns.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 68, "end": 77}], "disease": [{"text": "translocation", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "However, little is known about the effects of nuclear HMGB1 on cardiac hypertrophy and heart failure.", "output": {"entities": {"gene": [{"text": "HMGB1", "start": 54, "end": 59}], "disease": [{"text": "cardiac hypertrophy", "start": 63, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "However, reduced expression of SOCS3 occurred not only in HCC but also in nontumor regions, and this reduction was stronger as the fibrosis grade increased.", "output": {"entities": {"gene": [{"text": "HCC", "start": 58, "end": 61}], "disease": [{"text": "fibrosis", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The CCR5 chemokine receptor directs the immune response to a Th1 pattern and the mutant allele of this genotype (Δ32/Δ32) results in a less effective response, thus leading to a milder inflammation.", "output": {"entities": {"gene": [{"text": "Th1", "start": 61, "end": 64}], "disease": [{"text": "inflammation", "start": 185, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "We have extended previous studies to investigate the expression of a comprehensive range of CT genes (MAGE-A1,-A3,-A6,-A12, BAGE, GAGE, HAGE, LAGE-1, NY-ESO-1 and RAGE) for their expression in a cohort of acute and chronic myeloid leukaemia patient samples.", "output": {"entities": {"gene": [{"text": "LAGE-1", "start": 142, "end": 148}], "disease": [{"text": "chronic myeloid leukaemia", "start": 215, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "APOA1 + 83 M2 (+/-) and APOC3 SstI polymorphisms were not associated with gallstone disease.", "output": {"entities": {"gene": [{"text": "APOA1", "start": 0, "end": 5}], "disease": [{"text": "gallstone disease", "start": 74, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "These observations point to a cardiovascular protective effect of PTX3 potentially associated with the ability of tuning inflammation and favor the hypothesis that the increased levels of PTX3 in subjects with cardiovascular diseases may reflect a protective physiological mechanism, which correlates with the immunoinflammatory response observed in several cardiovascular disorders.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 66, "end": 70}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "The role of TBX2 and TBX4 in pulmonary hypertension warrants investigation.", "output": {"entities": {"gene": [{"text": "TBX2", "start": 12, "end": 16}], "disease": [{"text": "pulmonary hypertension", "start": 29, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 40, "end": 46}], "disease": [{"text": "CEL", "start": 96, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIP1L1", "start": 40, "end": 46}, "tail": {"text": "CEL", "start": 96, "end": 99}}]}}, "schema": []}
{"input": "These observations suggest a major role for nm23-H1 and nm23-H2 in tumorigenesis of unfavorable neuroblastomas.", "output": {"entities": {"gene": [{"text": "nm23-H1", "start": 44, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In this study, we determined the methylation frequency of 5 genes, including p16, Runx3, MGMT, DAPK, and RASSF1A, by methylation-specific polymerase chain reaction, in a series of formalin-fixed paraffin-embedded tissues including normal gastric mucosa (n = 20), intestinal metaplasia (n = 14), gastric epithelial dysplasia (n = 27), and early gastric adenocarcinoma (n = 16).", "output": {"entities": {"gene": [{"text": "MGMT", "start": 89, "end": 93}], "disease": [{"text": "epithelial dysplasia", "start": 303, "end": 323}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that miR-204/miR-211 downregulation accounts at least partially for the Hmx1 upregulation and the miR-204/miR-211-Hmx1 signaling axis may contribute to immune-suppression in the host thereby the Candidemia-induced kidney dysfunction.", "output": {"entities": {"gene": [{"text": "Hmx1", "start": 94, "end": 98}], "disease": [{"text": "kidney dysfunction", "start": 236, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration.", "output": {"entities": {"gene": [{"text": "PRPF31", "start": 96, "end": 102}], "disease": [{"text": "retinal degeneration", "start": 162, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "This is the first study to provide a direct demonstration that p53 dysfunction can arise in a sporadic tumor by a mechanism that does not involve TP53 mutation.", "output": {"entities": {"gene": [{"text": "p53", "start": 63, "end": 66}], "disease": [{"text": "sporadic", "start": 94, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In hippocampus, neurons in the CA1 region are more susceptible to ischemia-induced neuronal death than neurons in the CA3 region, and in response to transient forebrain ischemia a family of calcium-dependent receptors for alpha-latrotoxin is differentially expressed in the two regions.", "output": {"entities": {"gene": [{"text": "CA1", "start": 31, "end": 34}], "disease": [{"text": "ischemia", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Essential requirement of toll-like receptor 4 expression on CD11c + cells for locoregional immunotherapy of malignant ascites using a streptococcal preparation OK-432.", "output": {"entities": {"gene": [{"text": "CD11c", "start": 60, "end": 65}], "disease": [{"text": "malignant ascites", "start": 108, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "For multivariate analysis risk factors, such as gender, age at diagnosis, history of urinary tract infection, reflux grade and ACE genotype, were analyzed in logistic regression model.", "output": {"entities": {"gene": [{"text": "ACE", "start": 127, "end": 130}], "disease": [{"text": "reflux", "start": 110, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Patient genotypes for CYP2B6 (* 6 & * 11), CYP3A5 (* 3, * 6 & * 7) and ABCB1 c. 4046A > G, baseline biochemistries and CD4 and viral load change from baseline were determined.", "output": {"entities": {"gene": [{"text": "CYP2B6", "start": 22, "end": 28}], "disease": [{"text": "viral load", "start": 127, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Here we report the characterization of a human NK cell subset located in mucosa-associated lymphoid tissues, such as tonsils and Peyer' s patches, which is hard-wired to secrete interleukin (IL)-22, IL-26 and leukaemia inhibitory factor.", "output": {"entities": {"gene": [{"text": "IL-26", "start": 199, "end": 204}], "disease": [{"text": "leukaemia", "start": 209, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we examine the effects of 1R-Chl on transcription of other members of the H4 gene family, with the result that mRNA transcription of most genomic copies of H4 are down-regulated by 1R-Chl in a human pancreatic cancer cell line (MIA PaCa-2), but not in a cell line of non-cancerous origin (HEK293 cells).", "output": {"entities": {"gene": [{"text": "H4 gene", "start": 96, "end": 103}], "disease": [{"text": "pancreatic cancer", "start": 221, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "In the Avon Longitudinal Study of Parents and Children, rapid infancy weight gain was associated with increased risk of obesity at 5 and 8 years, with evidence of insulin resistance, exaggerated adrenarche and reduced levels of sex hormone binding globulin (SHBG).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 258, "end": 262}], "disease": [{"text": "insulin resistance", "start": 163, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "Successful treatment of acute promyelocytic leukemia with a t (X; 17) (p11. 4; q21) and BCOR-RARA fusion gene.", "output": {"entities": {"gene": [{"text": "BCOR", "start": 88, "end": 92}], "disease": [{"text": "acute promyelocytic leukemia", "start": 24, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BCOR", "start": 88, "end": 92}, "tail": {"text": "acute promyelocytic leukemia", "start": 24, "end": 52}}]}}, "schema": []}
{"input": "We explored the effect of CYP1B1 genotype on breast cancer risk in subgroups defined by body mass index, family history, smoking and catechol-O-methyl transferase genotype, but found no convincing evidence for interaction.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 26, "end": 32}], "disease": [{"text": "smoking", "start": 121, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Previously, the vacuolar H (+)-ATPase subunit gene ATP6V0A1 was found within the confidence interval for linkage with catestatin secretion in a genome-wide study, and its 3'-UTR polymorphism T + 3246C (rs938671) was associated with both catestatin processing from CHGA and population blood pressure.", "output": {"entities": {"gene": [{"text": "ATP6V0A1", "start": 51, "end": 59}], "disease": [{"text": "blood pressure", "start": 284, "end": 298}]}, "relations": {}}, "schema": []}
{"input": "Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.", "output": {"entities": {"gene": [{"text": "uroporphyrinogen III synthase", "start": 90, "end": 119}], "disease": [{"text": "Congenital erythropoietic porphyria", "start": 0, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "uroporphyrinogen III synthase", "start": 90, "end": 119}, "tail": {"text": "Congenital erythropoietic porphyria", "start": 0, "end": 35}}]}}, "schema": []}
{"input": "The relationship between smoking and colorectal cancer risk and whether such effect is modified by variations in the NAT2 genotype is investigated.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 117, "end": 121}], "disease": [{"text": "smoking", "start": 25, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.", "output": {"entities": {"gene": [{"text": "MYB", "start": 0, "end": 3}], "disease": [{"text": "angiocentric glioma", "start": 26, "end": 45}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYB", "start": 0, "end": 3}, "tail": {"text": "angiocentric glioma", "start": 26, "end": 45}}]}}, "schema": []}
{"input": "The relationship between Helicobacter pylori infection and gastric antrum adenocarcinoma (GAA) has previously been demonstrated and supported with strong epidemiological evidence.", "output": {"entities": {"gene": [{"text": "GAA", "start": 90, "end": 93}], "disease": [{"text": "adenocarcinoma", "start": 74, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Proteinuria, histopathology, polymorphonuclear (PMN) influx, expression of tubulointerstitial markers for oxidative stress 4-hydroxy-2-Nonenal (HNE) and fibrosis (α-smooth muscle actin), proximal tubular damage (Kim-1), Peroxisome Proliferator-Activated Receptor γ (PPAR γ) and inflammatory cytokines [Monocyte Chemotactic Protein-1, tumor necrosis factor-alpha (TNF-α) and Transforming growth factor beta (TGF-β)] were analyzed.", "output": {"entities": {"gene": [{"text": "HNE", "start": 144, "end": 147}], "disease": [{"text": "fibrosis", "start": 153, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that 1) FISH is an effective and economical method to reveal cryptic abnormalities of band 4q22-q24 resulting in TET2 deletions; 2) in these patients, TET2 deletion is the unifying genetic event; and 3) the different breakpoints within the 4q22-q25 region suggest that deletions are not mediated by repetitive sequences.", "output": {"entities": {"gene": [{"text": "TET2", "start": 140, "end": 144}], "disease": [{"text": "abnormalities", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "CHRNB3", "start": 120, "end": 126}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CHRNB3", "start": 120, "end": 126}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.", "output": {"entities": {"gene": [{"text": "TGFB1", "start": 29, "end": 34}], "disease": [{"text": "Camurati-Engelmann disease", "start": 45, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFB1", "start": 29, "end": 34}, "tail": {"text": "Camurati-Engelmann disease", "start": 45, "end": 71}}]}}, "schema": []}
{"input": "This study was performed to evaluate the methylation status of p16INK4a and p14ARF genes, as well as its association with p16 and p53 expression, microsatellite instability (MI) status, and various clinicopathologic parameters in sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 130, "end": 133}], "disease": [{"text": "sporadic", "start": 230, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Low grade B-cell non-Hodgkin' s lymphomas (B-NHL) represent a markedly heterogeneous group of lymphoproliferative disorders, including B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-CCL/SLL), lymphoplasmacytoid lymphoma (LPL), follicular lymphoma (FL), mucosa-associated lymphoid tissue lymphoma (MALTL), and splenic lymphoma with villous lymphocytes (SLVL).", "output": {"entities": {"gene": [{"text": "LPL", "start": 240, "end": 243}], "disease": [{"text": "follicular lymphoma", "start": 246, "end": 265}]}, "relations": {}}, "schema": []}
{"input": "The metastatic liver tumors showed focal, negative or sporadic positive appearances of p53, however, Ki-67 LI were scattering among them.", "output": {"entities": {"gene": [{"text": "p53", "start": 87, "end": 90}], "disease": [{"text": "sporadic", "start": 54, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The NPPA T2238C and SCNN1A A663T were associated with decreased fasting insulin levels after adjusting for body mass index (P = 0. 015 and 0. 028).", "output": {"entities": {"gene": [{"text": "SCNN1A", "start": 20, "end": 26}], "disease": [{"text": "body mass index", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, one of the BFPP-associated mutations, L640R, does not affect collagen III-induced lipid raft association of GPR56.", "output": {"entities": {"gene": [{"text": "GPR56", "start": 121, "end": 126}], "disease": [{"text": "BFPP", "start": 24, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPR56", "start": 121, "end": 126}, "tail": {"text": "BFPP", "start": 24, "end": 28}}]}}, "schema": []}
{"input": "HDAC9, TWIST1 and FERD3L gene expression in asymptomatic stable and unstable carotid plaques.", "output": {"entities": {"gene": [{"text": "TWIST1", "start": 7, "end": 13}], "disease": [{"text": "asymptomatic", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "At baseline, after 2 and 4 months, and every 6 months thereafter, GFR (51Cr-EDTA-clearance), albuminuria and 24-h blood pressure were determined.", "output": {"entities": {"gene": [{"text": "GFR", "start": 66, "end": 69}], "disease": [{"text": "albuminuria", "start": 93, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In addition, in a family affected by dominantly inherited early-onset osteoporosis, a heterozygous WNT1 missense mutation was identified in affected individuals.", "output": {"entities": {"gene": [{"text": "WNT1", "start": 99, "end": 103}], "disease": [{"text": "osteoporosis", "start": 70, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT1", "start": 99, "end": 103}, "tail": {"text": "osteoporosis", "start": 70, "end": 82}}]}}, "schema": []}
{"input": "In multiple linear regression models including adjustment for age, sex, smoking and genotype, the adjusted relative risks (and 95% confidence intervals) were 1. 18 (0. 98-1. 41) and 0. 84 (0. 69-1. 00) for carriers of XRCC1 codon 280 and BLHX codon 1450 variant alleles, respectively.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 218, "end": 223}], "disease": [{"text": "smoking", "start": 72, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In the replication, two of these 18 SNPs showed nominal significance: the VDBP rs12512631 T > C was associated with a better DSS [combined hazards ratio (HR) = 0. 66]; and the same for RXRA rs7850212 C > A (combined HR = 0. 38), which were further confirmed by the Fine and Gray competing-risks regression model.", "output": {"entities": {"gene": [{"text": "RXRA", "start": 185, "end": 189}], "disease": [{"text": "regression", "start": 295, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "The HGF + G-CSF group exhibited improved left ventricular systolic and diastolic function and experienced less adverse ventricular remodeling, as manifested by decreased left ventricular dilatation and increased border zone wall thickness.", "output": {"entities": {"gene": [{"text": "HGF", "start": 4, "end": 7}], "disease": [{"text": "ventricular remodeling", "start": 119, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Fourier-domain 3D OCT was performed in a number of symptomatic and asymptomatic subjects from these two pedigrees.", "output": {"entities": {"gene": [{"text": "OCT", "start": 18, "end": 21}], "disease": [{"text": "asymptomatic", "start": 67, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Family members of an apparently sporadic case of atrial standstill underwent genetic screening of SCN5A and atrial-specific genes including Cx40.", "output": {"entities": {"gene": [{"text": "Cx40", "start": 140, "end": 144}], "disease": [{"text": "atrial standstill", "start": 49, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Schizophrenia subjects showed significant decreases in mRNA levels of GAD (67), GAD (65), GAT-1, mGluR2, and neuronal nitric oxide synthase.", "output": {"entities": {"gene": [{"text": "GAT-1", "start": 90, "end": 95}], "disease": [{"text": "Schizophrenia", "start": 0, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAT-1", "start": 90, "end": 95}, "tail": {"text": "Schizophrenia", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "We present a haplotype-phenotype correlation study of CAPN10 haplotypes in 148 women showing ecographically detected polycystic ovaries (PCO) combined with one or more of these clinical symptoms: amenorrhea or severe oligomenorrhea, hyperandrogenism, and anovulatory infertility, as well as 93 unrelated controls.", "output": {"entities": {"gene": [{"text": "CAPN10", "start": 54, "end": 60}], "disease": [{"text": "amenorrhea", "start": 196, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "However, analysis of the concurrence of the double genotypes of the TAP-1 polymorphism at codon 333 and the LT-alpha genes showed differences between controls and atopic patients (P < 0. 02).", "output": {"entities": {"gene": [{"text": "TAP", "start": 68, "end": 71}], "disease": [{"text": "atopic", "start": 163, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "These results raise the possibility that mutation of the SOD1 is responsible for FALS with broader pathological involvement.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 57, "end": 61}], "disease": [{"text": "FALS", "start": 81, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SOD1", "start": 57, "end": 61}, "tail": {"text": "FALS", "start": 81, "end": 85}}]}}, "schema": []}
{"input": "These findings suggest that loss of PBRM1 or BAP1 are key events in ccRCC, whereas other pathways may support tumorigenesis in non-ccRCC subtypes.", "output": {"entities": {"gene": [{"text": "BAP1", "start": 45, "end": 49}], "disease": [{"text": "tumorigenesis", "start": 110, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "By inter-group comparison, expression of TNF-α, IFN-γ of granulomas in the hyperplasia group was significantly higher than that of the necrosis group, while the expression of TGF-β, IL-4 of granulomas in the necrosis group was significantly higher than that of the hyperplasia group.", "output": {"entities": {"gene": [{"text": "IFN", "start": 48, "end": 51}], "disease": [{"text": "hyperplasia", "start": 75, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "The expression of estrogen receptor (ER), progesterone receptor (PR), tumor suppressor oncogene p53, and Ki-67 was compared in uterine smooth muscle tumors, including leiomyosarcoma (LMS), tumor of uncertain malignant potential (UMP), cellular leiomyoma (CL), bizarre leiomyoma (BL), and usual leiomyoma (UL).", "output": {"entities": {"gene": [{"text": "p53", "start": 96, "end": 99}], "disease": [{"text": "cellular leiomyoma", "start": 235, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "ERT improves CAC and endothelial function and thus may attenuate development of cardiovascular disease in the long term in this patient population.", "output": {"entities": {"gene": [{"text": "ERT", "start": 0, "end": 3}], "disease": [{"text": "cardiovascular disease", "start": 80, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Recent studies reported that SPOP may be a tumor suppressor gene (TSG) and somatic mutation of SPOP was detected in prostate cancer (PCA).", "output": {"entities": {"gene": [{"text": "TSG", "start": 66, "end": 69}], "disease": [{"text": "prostate cancer", "start": 116, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Recently, an IL6 promoter polymorphism (G/C) at position-174 was found to be associated with measures of insulin sensitivity.", "output": {"entities": {"gene": [{"text": "IL6", "start": 13, "end": 16}], "disease": [{"text": "insulin sensitivity", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects.", "output": {"entities": {"gene": [{"text": "MTOR", "start": 23, "end": 27}], "disease": [{"text": "FCDII", "start": 67, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MTOR", "start": 23, "end": 27}, "tail": {"text": "FCDII", "start": 67, "end": 72}}]}}, "schema": []}
{"input": "We generated HLA-DR3. Abetao and HLA-DQ8. Abetao transgenic mice in NOD and HLA-DQ8. Abetao in B10 background to study spontaneous autoimmunity.", "output": {"entities": {"gene": [{"text": "B10", "start": 95, "end": 98}], "disease": [{"text": "autoimmunity", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The p53 mutations detected in hereditary tumors included rare single nucleotide deletions and unusual double-base substitutions compared to the typical ultraviolet light induced missense mutations found in sporadic tumors.", "output": {"entities": {"gene": [{"text": "p53", "start": 4, "end": 7}], "disease": [{"text": "sporadic", "start": 206, "end": 214}]}, "relations": {}}, "schema": []}
{"input": "In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 291, "end": 296}], "disease": [{"text": "translocation", "start": 297, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "We found that overexpression of GRK2 through recombinant adenovirus transduction inhibits the growth of human HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 110, "end": 113}], "disease": [{"text": "adenovirus", "start": 57, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "We found that EMMPRIN-2 overexpression and Cathepsin B down-regulation significantly inhibited the invasion, migration and adhesion of Tca8133 cells, suggesting that Cathepsin B is required for EMMPRIN-2 enhanced cell migration and invasion in head and neck cancer.", "output": {"entities": {"gene": [{"text": "Cathepsin B", "start": 43, "end": 54}], "disease": [{"text": "adhesion", "start": 123, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Logistic regression identified the following as predictors of albuminuria: GG genotype: P = 0. 003 (OR 4. 2; CI 1. 61-10. 96); low GFR: P = 0. 003 (OR 0. 97; CI 0. 95-0. 99); and high plasma adiponectin: P = 0. 012 (OR 1. 07; CI 1. 01-1. 14).", "output": {"entities": {"gene": [{"text": "GFR", "start": 131, "end": 134}], "disease": [{"text": "albuminuria", "start": 62, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The presence of multiple, low-molecular-weight, insulinlike growth factor (IGF)-binding proteins in lung tumor cell-conditioned medium and lung cancer patient serum has been recently reported.", "output": {"entities": {"gene": [{"text": "IGF", "start": 75, "end": 78}], "disease": [{"text": "weight", "start": 40, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Compared with Wistar-Kyoto (WKY) rats, there were marked increases in systolic blood pressure and profilin-1 expression and reduced ACE2 and peroxisome proliferator activated receptor-γ (PPARγ) levels in aorta of SHR, associated with elevated extracellular-signal regulated kinase 1/2 (ERK1/2) and c-Jun N-terminal kinase (JNK) phosphorylation signaling and aortic hypertrophy characterized with increased media thickness, which were strikingly reversed by telmisartan.", "output": {"entities": {"gene": [{"text": "JNK", "start": 323, "end": 326}], "disease": [{"text": "hypertrophy", "start": 365, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "Strikingly, TCR ligation in activated T cells triggered increased recruitment of SAP to NTB-A, dissociation of the phosphatase SHP-1, and colocalization of NTB-A with CD3 aggregates.", "output": {"entities": {"gene": [{"text": "NTB-A", "start": 88, "end": 93}], "disease": [{"text": "dissociation", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Loss of striatal cannabinoid CB1 receptor function in attention-deficit & #8202;/& #8202; hyperactivity disorder mice with point-mutation of the dopamine transporter.", "output": {"entities": {"gene": [{"text": "CB1", "start": 29, "end": 32}], "disease": [{"text": "attention-deficit", "start": 54, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CB1", "start": 29, "end": 32}, "tail": {"text": "attention-deficit", "start": 54, "end": 71}}]}}, "schema": []}
{"input": "Mutation of the PI3' kinase gene in a human colon carcinoma cell line, HCC2998.", "output": {"entities": {"gene": [{"text": "PI3", "start": 16, "end": 19}], "disease": [{"text": "colon carcinoma", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Because monocyte activation and differentiation influence retroviral transcription and replication, we investigated the contribution of these processes to the expression of four HERV families (HERV-W, HERV-K, HERV-E, and HERV-H) in human monocytes, and autopsied brain tissue from patients with brain diseases associated with increased macrophage activity.", "output": {"entities": {"gene": [{"text": "HERV-W", "start": 193, "end": 199}], "disease": [{"text": "brain diseases", "start": 295, "end": 309}]}, "relations": {}}, "schema": []}
{"input": "Nonproliferative fibrocystic lesions showed variable expression of p68, with high levels seen within foci of apocrine metaplasia and low levels in cystically dilated terminal duct units.", "output": {"entities": {"gene": [{"text": "p68", "start": 67, "end": 70}], "disease": [{"text": "apocrine metaplasia", "start": 109, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "TRIF (-/-) mice infected with K. pneumoniae showed impaired survival and reduced bacterial clearance, neutrophil influx, histopathologic evidence of inflammation, and TNF-alpha, IL-6, KC, MIP-2, but not LIX, expression in the lungs.", "output": {"entities": {"gene": [{"text": "LIX", "start": 203, "end": 206}], "disease": [{"text": "inflammation", "start": 149, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "K8-and K18-overexpressing pancreata were histologically similar to WT, whereas K8/K18 pancreata displayed age-enhanced vacuolization and atrophy of the exocrine pancreas and exhibited keratin hyperphosphorylation.", "output": {"entities": {"gene": [{"text": "K18", "start": 7, "end": 10}], "disease": [{"text": "atrophy", "start": 137, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Small interfering RNA (siRNA) targeting LOX was used to silence LOX expression of hypoxic NSCLC cells, SPCA1 and A549.", "output": {"entities": {"gene": [{"text": "LOX", "start": 40, "end": 43}], "disease": [{"text": "hypoxic", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "This study aims to investigate whether NRP-1 expression is associated with the clinicopathology of gastric cancer, and involved in the growth and metastasis of gastric cancer cells.", "output": {"entities": {"gene": [{"text": "NRP", "start": 39, "end": 42}], "disease": [{"text": "gastric cancer", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The P50 of the stripped hemolysis was normal.", "output": {"entities": {"gene": [{"text": "P50", "start": 4, "end": 7}], "disease": [{"text": "hemolysis", "start": 24, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Point mutations on the human skeletal muscle Ca2 + channel give rise to hypokalemic periodic paralysis and malignant hyperthermia.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 45, "end": 48}], "disease": [{"text": "malignant hyperthermia", "start": 107, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.", "output": {"entities": {"gene": [{"text": "EBF3", "start": 190, "end": 194}], "disease": [{"text": "tumorigenesis", "start": 401, "end": 414}]}, "relations": {}}, "schema": []}
{"input": "TMP treatment can inhibit such increase and even make the adhesion probability lower than the resting state.", "output": {"entities": {"gene": [{"text": "TMP", "start": 0, "end": 3}], "disease": [{"text": "adhesion", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "Antisense significantly reduced (by about 50%) the volume of water drunk in response to intracerebroventricular (icv) renin or isoproterenol but did not reduce drinking in response to the physiological challenge of icv angiotensin II, icv carbachol, intravenous hypertonic saline, water deprivation or subcutaneous injection of polyethylene glycol.", "output": {"entities": {"gene": [{"text": "renin", "start": 118, "end": 123}], "disease": [{"text": "drunk", "start": 67, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "renin", "start": 118, "end": 123}, "tail": {"text": "drunk", "start": 67, "end": 72}}]}}, "schema": []}
{"input": "Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA/B, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 90, "end": 96}], "disease": [{"text": "abnormalities", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "p53 hypersensitivity is the predominant mechanism of the unique responsiveness of testicular germ cell tumor (TGCT) cells to cisplatin.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "hypersensitivity", "start": 4, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Several polymorphisms of the Pitx3 gene have been linked with sporadic and early-onset forms of PD, but different studies have given conflicting or inconsistent findings.", "output": {"entities": {"gene": [{"text": "Pitx3 gene", "start": 29, "end": 39}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our result illustrates the repertoire of KRT9 mutation underlying the occurrence of EPPK in a Japanese family and is an important contribution to the investigation of the genotype/phenotype correlation.", "output": {"entities": {"gene": [{"text": "KRT9", "start": 41, "end": 45}], "disease": [{"text": "EPPK", "start": 84, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT9", "start": 41, "end": 45}, "tail": {"text": "EPPK", "start": 84, "end": 88}}]}}, "schema": []}
{"input": "To explain the observations in the context of chlamydial infection and trachoma we propose a two-stage model of response and disease that balances the cytolytic response of KIR expressing NK cells with the ability to secrete interferon gamma, a combination that may cause pathology.", "output": {"entities": {"gene": [{"text": "KIR", "start": 173, "end": 176}], "disease": [{"text": "trachoma", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Interactome analysis identified four PR-genes in signaling pathways whose dysregulation is correlated directly with pathogenesis: GRK5 and KLK6 in Alzheimer' s disease; FGF14 in craniosynostosis, mental retardation and FLT1 in neuroferritinopathy.", "output": {"entities": {"gene": [{"text": "KLK6", "start": 139, "end": 143}], "disease": [{"text": "neuroferritinopathy", "start": 227, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that 17 SNPs within GRIA1, GRIA2 and GRIA4 may not be associated with the development and treatment outcomes in BD.", "output": {"entities": {"gene": [{"text": "GRIA1", "start": 40, "end": 45}], "disease": [{"text": "BD", "start": 132, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRIA1", "start": 40, "end": 45}, "tail": {"text": "BD", "start": 132, "end": 134}}]}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "LIPC", "start": 238, "end": 242}], "disease": [{"text": "smoking", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "Our findings implicate MST1 as a key determinant of neurodegeneration in ALS.", "output": {"entities": {"gene": [{"text": "MST1", "start": 23, "end": 27}], "disease": [{"text": "neurodegeneration", "start": 52, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Patients with nephrotic-range proteinuria show a significant increase in tubulointerstitial expression of IL-10, whereas the immunoreactivity for TNF-alpha reflects the extent of interstitial fibrosis.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 106, "end": 111}], "disease": [{"text": "proteinuria", "start": 30, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "According to the location of significant signals, our study indicated that exon 13-15 of CNTNAP2 may play important roles in both schizophrenia and major depression in the Han Chinese population.", "output": {"entities": {"gene": [{"text": "CNTNAP2", "start": 89, "end": 96}], "disease": [{"text": "major depression", "start": 148, "end": 164}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CNTNAP2", "start": 89, "end": 96}, "tail": {"text": "major depression", "start": 148, "end": 164}}]}}, "schema": []}
{"input": "All five pancreatic cancer cell lines showed DR5 protein expression and varying sensitivity to TRA-8-mediated cytotoxicity.", "output": {"entities": {"gene": [{"text": "DR5", "start": 45, "end": 48}], "disease": [{"text": "pancreatic cancer", "start": 9, "end": 26}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DR5", "start": 45, "end": 48}, "tail": {"text": "pancreatic cancer", "start": 9, "end": 26}}]}}, "schema": []}
{"input": "A subset of human MPNSTs, both NF-1-related and sporadic, overexpress EGFR via true genomic amplification of the short arm of chromosome 7 (7p12).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 70, "end": 74}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "SAA-positive hepatocellular neoplasms/nodules showed significantly more extensive sinusoidal dilatation, inflammatory reaction, abnormally thick arteries and cellular atypia than FNH-like nodules (P < 0. 05).", "output": {"entities": {"gene": [{"text": "SAA", "start": 0, "end": 3}], "disease": [{"text": "dilatation", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "GPX1 Pro (198) Leu polymorphism, erythrocyte GPX activity, interaction with alcohol consumption and smoking, and risk of colorectal cancer.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 0, "end": 4}], "disease": [{"text": "alcohol consumption", "start": 76, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "On the basis of these results, mutations of the phospholipase A2 gene, at least in the region close to the polymorphism examined between exons 1 and 2, are not involved in the pathogenesis of bipolar mood disorder.", "output": {"entities": {"gene": [{"text": "phospholipase A2", "start": 48, "end": 64}], "disease": [{"text": "bipolar mood disorder", "start": 192, "end": 213}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "phospholipase A2", "start": 48, "end": 64}, "tail": {"text": "bipolar mood disorder", "start": 192, "end": 213}}]}}, "schema": []}
{"input": "The NF2 gene, recently isolated from chromosome 22, is mutated in both sporadic and NF2 tumors such as schwannomas, meningiomas and ependymomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 4, "end": 12}], "disease": [{"text": "sporadic", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In this report we examine the activities of the lysosomal endoproteinase cathepsin B and its endogenous inhibitor (s) in the red and white skeletal muscles of guinea pigs with nutritional muscular myopathy induced by vitamin E deficiency.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 73, "end": 84}], "disease": [{"text": "myopathy", "start": 197, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cathepsin B", "start": 73, "end": 84}, "tail": {"text": "myopathy", "start": 197, "end": 205}}]}}, "schema": []}
{"input": "We suggest that AgRP improves uremic cachexia and muscle wasting by a peripheral mechanism involving the balance between myostatin and IGF-I.", "output": {"entities": {"gene": [{"text": "AgRP", "start": 16, "end": 20}], "disease": [{"text": "cachexia", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "HMAECs were treated with high or normal glucose and TLR-2, TLR-4, MyD88, IRF3, TRIF, nuclear NF-κB p65, IL-8, IL-1β, TNF-α, MCP-1, ICAM-1, sVCAM-1, monocyte adhesion to HMAECs, heparan sulfate and hyaluronic acid were measured.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 93, "end": 98}], "disease": [{"text": "adhesion", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The respiratory depression, which was due to loss of mitochondrial cytochrome c, was associated with decreased capacity of respiratory chain oxidative phosphorylation and enhanced cellular level of ROS.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 67, "end": 79}], "disease": [{"text": "respiratory depression", "start": 4, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "DOX induced left-ventricular dysfunction, oxidative/nitrosative stress coupled with impaired antioxidant defense, activation of MAPK (p38 and JNK), and cell death and/or fibrosis in hearts of wide-type mice (CB1 (+/+)), and these effects were markedly attenuated in CB1 knockouts (CB1 (-/-)).", "output": {"entities": {"gene": [{"text": "p38", "start": 134, "end": 137}], "disease": [{"text": "ventricular dysfunction", "start": 17, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum.", "output": {"entities": {"gene": [{"text": "IRF2", "start": 52, "end": 56}], "disease": [{"text": "eczema herpeticum", "start": 100, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The excessive deposition of versican in keloids was examined by immunohistochemical analysis and by upregulation of the versican gene in these lesions by real-time PCR.", "output": {"entities": {"gene": [{"text": "versican gene", "start": 120, "end": 133}], "disease": [{"text": "keloids", "start": 40, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function.", "output": {"entities": {"gene": [{"text": "ATP13A2", "start": 282, "end": 289}], "disease": [{"text": "Kufor-Rakeb syndrome", "start": 211, "end": 231}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP13A2", "start": 282, "end": 289}, "tail": {"text": "Kufor-Rakeb syndrome", "start": 211, "end": 231}}]}}, "schema": []}
{"input": "The associations between LEP rs17151919 with weight tended to strengthen with time-the difference in weight associated with each additional minor allele increased from 2. 6 kg at baseline to 4. 8 kg at year 20 (SNP * time interaction p = 0. 0193).", "output": {"entities": {"gene": [{"text": "LEP", "start": 25, "end": 28}], "disease": [{"text": "weight", "start": 45, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Reduction of EphA2 phosphorylation by LCA may represent a novel approach for future anti-apoptotic treatment of heart failure and atrial fibrillation.", "output": {"entities": {"gene": [{"text": "EphA2", "start": 13, "end": 18}], "disease": [{"text": "heart failure", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal dominant with linkage to chromosome 2q; early adult onset type 1, or Nonaka myopathy, an autosomal recessive disease linked to 9p1-q1 and considered indistinguishable from hereditary inclusion body myopathy; early adult onset type 2, or Miyoshi myopathy, with autosomal recessive inheritance linked to chromosome 2p12-p14; and early adult onset type 3, or Laing myopathy, autosomal dominant with linkage to chromosome 14.", "output": {"entities": {"gene": [{"text": "p14", "start": 667, "end": 670}], "disease": [{"text": "distal myopathy", "start": 184, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots.", "output": {"entities": {"gene": [{"text": "MRI", "start": 61, "end": 64}], "disease": [{"text": "hypertrophy", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Suppression of LPS-induced neutrophilia by formoterol was impaired in Cebpb (ΔLE) mice and Cxcl1 expression was increased.", "output": {"entities": {"gene": [{"text": "Cebpb", "start": 70, "end": 75}], "disease": [{"text": "neutrophilia", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We sought to evaluate the predictive value of food sensitization and food allergy, FLG haploinsufficiency, and their combination in infants with early-onset eczema for persistent eczema and childhood asthma.", "output": {"entities": {"gene": [{"text": "FLG", "start": 83, "end": 86}], "disease": [{"text": "food allergy", "start": 69, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 35, "end": 44}], "disease": [{"text": "hemophilia B", "start": 58, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 35, "end": 44}, "tail": {"text": "hemophilia B", "start": 58, "end": 70}}]}}, "schema": []}
{"input": "Based on these and other observations, we propose that PEX11 proteins act directly in peroxisome division, and that their loss has indirect effects on peroxisome metabolism.", "output": {"entities": {"gene": [{"text": "PEX11", "start": 55, "end": 60}], "disease": [{"text": "peroxisome division", "start": 86, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PEX11", "start": 55, "end": 60}, "tail": {"text": "peroxisome division", "start": 86, "end": 105}}]}}, "schema": []}
{"input": "Mosaic supernumerary r (1) (p13. 2q23. 3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.", "output": {"entities": {"gene": [{"text": "p13", "start": 28, "end": 31}], "disease": [{"text": "psychomotor retardation", "start": 95, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, CD23 ligation is an alternative pathway in the induction of inflammatory product synthesis by astrocytes and participates in CNS inflammation.", "output": {"entities": {"gene": [{"text": "CD23", "start": 15, "end": 19}], "disease": [{"text": "inflammation", "start": 144, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Effects of obesity and stable weight reduction on UCP2 and UCP3 gene expression in humans.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 50, "end": 54}], "disease": [{"text": "weight reduction", "start": 30, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "After imputation of data from the 1000 Genomes Project into a genome-wide dataset of Ghanaian individuals with tuberculosis and controls, we identified a resistance locus on chromosome 11p13 downstream of the WT1 gene (encoding Wilms tumor 1).", "output": {"entities": {"gene": [{"text": "WT1 gene", "start": 209, "end": 217}], "disease": [{"text": "tuberculosis", "start": 111, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "One-way analysis of variance (ANOVA) revealed no significant differences among 5 groups (depressive, cyclothymic, hyperthymic, irritable and anxious temperament) in healthy subjects for all the scores of affective temperaments by TEMPS-A.", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 30, "end": 35}], "disease": [{"text": "irritable", "start": 127, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 214, "end": 218}], "disease": [{"text": "melanoma", "start": 352, "end": 360}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAX6", "start": 214, "end": 218}, "tail": {"text": "melanoma", "start": 352, "end": 360}}]}}, "schema": []}
{"input": "Alternatively, an ongoing beta cell destruction and tissue inflammation, initiated by ppins/(K (b)/A (12-21))-specific CD8 T-cells in pCI/ppins + pCI/ppinsΔA (12-21) co-immunized PD-L1 (-/-) mice, facilitated the expansion of ppinsΔA (12-21)/(K (b)/B (22-29))-specific CD8 T-cells.", "output": {"entities": {"gene": [{"text": "PD-L1", "start": 179, "end": 184}], "disease": [{"text": "inflammation", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In comparison with the Ad-GFP group, the Ad-ACE2 group exhibited reduced systolic blood pressure, urinary albumin excretion, creatinine clearance, glomeruli sclerosis index and renal malondialdehyde level; downregulated transforming growth factor (TGF)-β1, vascular endothelial growth factor (VEGF) and collagen IV protein expression; and increased renal superoxide dismutase activity.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 293, "end": 297}], "disease": [{"text": "systolic blood pressure", "start": 73, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Identification of c-Yes expression in the nuclei of hepatocellular carcinoma cells: involvement in the early stages of hepatocarcinogenesis.", "output": {"entities": {"gene": [{"text": "c-Yes", "start": 18, "end": 23}], "disease": [{"text": "hepatocarcinogenesis", "start": 119, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Five IL18 tagging single nucleotide polymorphisms (rs1946519, rs2043055, rs549908, rs360729, rs3882891) were selected and genotyped in the Gene-Diet Attica Investigation on childhood obesity (GENDAI) (age range 10-14 yrs); in young European men in the second European Atherosclerosis Research offspring Study (EARSII), an offspring study (age range 18-28 yrs) and in a group of healthy women from the Greek Obese Women study (GrOW) (age range 18-74 yrs).", "output": {"entities": {"gene": [{"text": "IL18", "start": 5, "end": 9}], "disease": [{"text": "childhood obesity", "start": 173, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Using the pathophysiology of CIPA as a foundation, this review investigates the ways in which NGF-dependent neurons contribute to interoception, homeostasis and emotional responses and, together with the brain, immune and endocrine systems, play crucial roles in pain, itch and inflammation.", "output": {"entities": {"gene": [{"text": "NGF", "start": 94, "end": 97}], "disease": [{"text": "itch", "start": 269, "end": 273}]}, "relations": {}}, "schema": []}
{"input": "Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.", "output": {"entities": {"gene": [{"text": "RAB3GAP1", "start": 21, "end": 29}], "disease": [{"text": "warburg micro syndrome", "start": 90, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RAB3GAP1", "start": 21, "end": 29}, "tail": {"text": "warburg micro syndrome", "start": 90, "end": 112}}]}}, "schema": []}
{"input": "It has been shown that Yes-associated protein (YAP) acts as a transcriptional co-activator to regulate p73-dependent apoptosis in response to DNA damage in some cell types, and promyelocytic leukemia (PML) protein is involved in the regulation loop through stabilization of YAP through sumoylation.", "output": {"entities": {"gene": [{"text": "YAP", "start": 47, "end": 50}], "disease": [{"text": "promyelocytic leukemia", "start": 177, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "There was a significant decrease in bone mineral density (BMD) and bone mineral content (BMC) of the tibia bones together with a decrease in osteoprotegrin (OPG) expression but with a significant increase in receptor activator of nuclear factor kappa B ligand (RANKL) expression in osteoporotic rats.", "output": {"entities": {"gene": [{"text": "RANKL", "start": 261, "end": 266}], "disease": [{"text": "bone mineral density", "start": 36, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "C-type natriuretic peptide (CNP) dilates arteries, lowers blood pressure and inhibits proliferation of vascular smooth muscle cells via the type B natriuretic peptide receptor (NPRB).", "output": {"entities": {"gene": [{"text": "NPRB", "start": 177, "end": 181}], "disease": [{"text": "blood pressure", "start": 58, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "GWAS was performed for two pneumoproteins, Clara cell secretory protein (CC16) and surfactant protein D (SP-D), and five systemic inflammatory markers (C-reactive protein, fibrinogen, IL-6, IL-8, and tumor necrosis factor-α) in 1, 951 subjects with COPD.", "output": {"entities": {"gene": [{"text": "SP-D", "start": 105, "end": 109}], "disease": [{"text": "fibrinogen", "start": 172, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "We found that Dnmt3a expression was regulated in mouse nucleus accumbens (NAc) by chronic cocaine use and chronic social defeat stress.", "output": {"entities": {"gene": [{"text": "Dnmt3a", "start": 14, "end": 20}], "disease": [{"text": "cocaine use", "start": 90, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Dnmt3a", "start": 14, "end": 20}, "tail": {"text": "cocaine use", "start": 90, "end": 101}}]}}, "schema": []}
{"input": "Complementary fluorescence in situ hybridization analysis showed that the translocation breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 and FSHMD1A at 4q35.", "output": {"entities": {"gene": [{"text": "DUX4", "start": 162, "end": 166}], "disease": [{"text": "translocation", "start": 74, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "However, the degree of TP53 mRNA expression was predictive of sensitivity to C75-induced cytotoxicity, with low-TP53 mRNA expressing breast cancer cells showing hypersensitivity to FAS blockade.", "output": {"entities": {"gene": [{"text": "TP53", "start": 23, "end": 27}], "disease": [{"text": "hypersensitivity", "start": 161, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE).", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 13, "end": 18}], "disease": [{"text": "CIP", "start": 149, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCN9A", "start": 13, "end": 18}, "tail": {"text": "CIP", "start": 149, "end": 152}}]}}, "schema": []}
{"input": "In patients and rats, septic shock was associated with a decreased expression of ACTH, unchanged expression of V1B receptor, CRHR1 and AVP mRNA, and increased expression of parvocellular iNOS compared to controls.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 81, "end": 85}], "disease": [{"text": "septic shock", "start": 22, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "The genotypic frequency of the HOX-1 group I was significantly higher than group II in the very severe COPD patients (36. 8% vs 22. 4%, P < 0. 01, OR = 2. 0, 95% CI 1. 3-3. 1), while the genotypic frequency of the HOX-1 group II was lower in the mild COPD (16. 0% vs 26. 0%, P = 0. 02, OR = 0. 5, 95% CI 0. 3-0. 9).", "output": {"entities": {"gene": [{"text": "HOX-1", "start": 31, "end": 36}], "disease": [{"text": "mild", "start": 246, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Microdissected tumor tissues were characterized by real-time quantitative PCR for the expression of HLA-ABC, beta2-microglobulin and the members of the antigen processing machinery (APM) of HLA class I molecules (LMP2, LMP7, TAP1, TAP2 and tapasin).", "output": {"entities": {"gene": [{"text": "TAP2", "start": 231, "end": 235}], "disease": [{"text": "tumor", "start": 15, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "KLK31P is a novel androgen regulated and transcribed pseudogene of kallikreins that is expressed at lower levels in prostate cancer cells than in normal prostate cells.", "output": {"entities": {"gene": [{"text": "KLK31P", "start": 0, "end": 6}], "disease": [{"text": "prostate cancer", "start": 116, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "KLK31P", "start": 0, "end": 6}, "tail": {"text": "prostate cancer", "start": 116, "end": 131}}]}}, "schema": []}
{"input": "Low-density lipoprotein receptor-related protein associated protein (LRPAP1) insertion/deletion polymorphism influences cholesterol homeostasis and may confer risk for gallstone disease and gallbladder carcinoma (GBC) incidence usually parallels with the prevalence of cholelithiosis.", "output": {"entities": {"gene": [{"text": "lipoprotein receptor-related protein", "start": 12, "end": 48}], "disease": [{"text": "gallstone disease", "start": 168, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Mutant alleles of the CRX gene have recently been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber congenital amaurosis (LCA).", "output": {"entities": {"gene": [{"text": "CRX", "start": 22, "end": 25}], "disease": [{"text": "Leber congenital amaurosis", "start": 131, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRX", "start": 22, "end": 25}, "tail": {"text": "Leber congenital amaurosis", "start": 131, "end": 157}}]}}, "schema": []}
{"input": "Gene-smoking interaction analyses revealed a statistically significant interaction between cumulative cigarette smoking and the XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms: these polymorphisms were significantly associated with lung cancer in nonsmokers and light smokers (< 25 PY; OR = 4. 92, p = 0. 021 for XRCC1 399 Gln/Gln; OR = 3. 62, p = 0. 049 for XPD 751 Gln/Gln), but not in heavy smokers (> or = 25 PY; OR = 0. 68, p = 0. 566 for XRCC1 399 Gln/Gln; OR = 0. 46, p = 0. 295 for XPD 751 Gln/Gln).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 128, "end": 133}], "disease": [{"text": "smoking", "start": 5, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "The beta subunit of the mitochondrial H (+)-ATP synthase (beta-F1-ATPase) and heat shock protein 60 (Hsp 60), and the glycolytic glyceraldehyde-3-phosphate dehydrogenase (GAPDH), used to define the bioenergetic cellular (BEC) index, were identified using mass spectrometry and specific antibodies.", "output": {"entities": {"gene": [{"text": "GAPDH", "start": 171, "end": 176}], "disease": [{"text": "shock", "start": 83, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Our study also indicates that epilepsy surgery is a valuable alternative in the treatment of drug-resistant DEPDC5-positive focal epilepsies, even if the MRI is unremarkable.", "output": {"entities": {"gene": [{"text": "MRI", "start": 154, "end": 157}], "disease": [{"text": "epilepsy", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family.", "output": {"entities": {"gene": [{"text": "BBS10", "start": 25, "end": 30}], "disease": [{"text": "Bardet-Biedl Syndrome", "start": 135, "end": 156}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BBS10", "start": 25, "end": 30}, "tail": {"text": "Bardet-Biedl Syndrome", "start": 135, "end": 156}}]}}, "schema": []}
{"input": "Numerous CD30 + large cells were present in 4 LCT-CTCL consistent with secondary CD30 + ALCL; CD30 was expressed by < 10% of the large cells in another case and was negative in the other 3 lymphomas.", "output": {"entities": {"gene": [{"text": "LCT", "start": 46, "end": 49}], "disease": [{"text": "lymphomas", "start": 189, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Decreased NKX3. 1 protein expression in focal prostatic atrophy, prostatic intraepithelial neoplasia, and adenocarcinoma: association with gleason score and chromosome 8p deletion.", "output": {"entities": {"gene": [{"text": "NKX3. 1", "start": 10, "end": 17}], "disease": [{"text": "atrophy", "start": 56, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "DCC encodes a transmembrane glycoprotein closely related to the adhesion molecules of the Neural Cell Adhesion Molecule (N-CAM) family.", "output": {"entities": {"gene": [{"text": "DCC", "start": 0, "end": 3}], "disease": [{"text": "adhesion", "start": 64, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Exposure of mice to ESAT-6 induced localized inflammatory cell aggregate formation with characteristics of early granuloma concomitant with increased keratinocyte chemoattractant CXCL1 staining in bronchiolar and alveolar type II epithelial cells and alveolar macrophages.", "output": {"entities": {"gene": [{"text": "CXCL1", "start": 179, "end": 184}], "disease": [{"text": "granuloma", "start": 113, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "The FASN inhibitors cerulenin and orlistat reduced the growth of two LS cell lines (LiSa2, SW872), as did inhibition of ACC with soraphen A. CDDO-Me, a synthetic triterpenoid, suppressed expression of Spot 14 and FASN genes and likewise inhibited LS cell growth.", "output": {"entities": {"gene": [{"text": "FASN", "start": 4, "end": 8}], "disease": [{"text": "LS", "start": 69, "end": 71}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FASN", "start": 4, "end": 8}, "tail": {"text": "LS", "start": 69, "end": 71}}]}}, "schema": []}
{"input": "We produced an LRAT gene knock-out mouse strain and assessed whether LRAT-/-mice were more susceptible to vitamin A deficiency than wild type (WT) mice.", "output": {"entities": {"gene": [{"text": "LRAT", "start": 15, "end": 19}], "disease": [{"text": "vitamin A deficiency", "start": 106, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LRAT", "start": 15, "end": 19}, "tail": {"text": "vitamin A deficiency", "start": 106, "end": 126}}]}}, "schema": []}
{"input": "SOX30 was expressed in normal and peri-tumoral lung tissues in which SOX30 was unmethylated, but was silenced or downregulated in lung cancer cell lines and primary lung tumor tissues harboring a hypermethylated SOX30.", "output": {"entities": {"gene": [{"text": "SOX30", "start": 0, "end": 5}], "disease": [{"text": "lung cancer", "start": 130, "end": 141}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SOX30", "start": 0, "end": 5}, "tail": {"text": "lung cancer", "start": 130, "end": 141}}]}}, "schema": []}
{"input": "However, whether brain tumor-resident Tregs are thymus-derived natural Tregs (nTregs) or induced Tregs (iTregs), by the conversion of conventional CD4 (+) T cells, has not been established.", "output": {"entities": {"gene": [{"text": "CD4", "start": 147, "end": 150}], "disease": [{"text": "brain tumor", "start": 17, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The BPA patients had a later onset of panic disorder and a higher familial prevalence of PD.", "output": {"entities": {"gene": [{"text": "BPA", "start": 4, "end": 7}], "disease": [{"text": "panic disorder", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Exposure of cultured undifferentiated human keratinocytes to a sterile nontoxic small molecule of < 10 kDa from S. epidermidis conditioned culture medium (SECM), but not similar preparations from other bacteria, enhanced human beta-defensin 2 (hBD2) and hBD3 mRNA expression and increased the capacity of cell lysates to inhibit the growth of group A Streptococcus (GAS) and S. aureus.", "output": {"entities": {"gene": [{"text": "hBD2", "start": 244, "end": 248}], "disease": [{"text": "sterile", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12.", "output": {"entities": {"gene": [{"text": "TGFBI gene", "start": 99, "end": 109}], "disease": [{"text": "sporadic", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The full-length cDNA sequences of JS-1 and JS-2 were determined from a non-tumor esophageal epithelial cell line by 3' and 5' rapid amplification of cDNA ends (RACE).", "output": {"entities": {"gene": [{"text": "RACE", "start": 160, "end": 164}], "disease": [{"text": "esophageal", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "We had previously shown that one single nucleotide polymorphism (SNP) of the IL18 gene was associated with cardiovascular disease (CVD) through an interaction with smoking.", "output": {"entities": {"gene": [{"text": "IL18 gene", "start": 77, "end": 86}], "disease": [{"text": "smoking", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Both severe hypoxia with nutrient deprivation and HIF-1α transfection led to the cessation of DCP production, by attenuating protein synthesis through the hypophosphorylation of mammalian target of rapamycin and its effector proteins, indicative of a further phenotypic shift involving impaired liver-specific protein synthesis.", "output": {"entities": {"gene": [{"text": "mammalian target of rapamycin", "start": 178, "end": 207}], "disease": [{"text": "hypoxia", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "For Latin Americans, a significant difference in individual cases versus controls was observed for FMO3 158 and 257 for schizophrenia delusions as well as hallucinations and delusions.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 99, "end": 103}], "disease": [{"text": "delusions", "start": 134, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Hence, S100P could be considered a potential drug target or a chemosensitization target, and could also serve as a biomarker for aggressive, hormone-refractory and metastatic prostate cancer.", "output": {"entities": {"gene": [{"text": "S100P", "start": 7, "end": 12}], "disease": [{"text": "metastatic prostate cancer", "start": 164, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "We investigated HIV-1 replication in CD14 (+) monocytes and resting and activated CD4 (+) T cells by measuring the levels of cell-associated viral DNA and mRNA and the genetic evolution of HIV-1 in seven acutely infected patients whose plasma viremia had been < 100 copies/ml for 803 to 1, 544 days during highly active antiretroviral therapy (HAART).", "output": {"entities": {"gene": [{"text": "CD14", "start": 37, "end": 41}], "disease": [{"text": "viremia", "start": 243, "end": 250}]}, "relations": {}}, "schema": []}
{"input": "Four independent deletions were located within the protein tyrosine phosphatase gene, PTPRD, recently implicated as a candidate gene for restless legs syndrome, which frequently presents with ADHD.", "output": {"entities": {"gene": [{"text": "PTPRD", "start": 86, "end": 91}], "disease": [{"text": "ADHD", "start": 192, "end": 196}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTPRD", "start": 86, "end": 91}, "tail": {"text": "ADHD", "start": 192, "end": 196}}]}}, "schema": []}
{"input": "Twice-daily administration of Ex-4 (1 μg/kg) for 3 days after ischemia (30 min before and 30 min after ischemia on the day of surgery and 2 more days) decreased the number of Fluoro-Jade B-stained cells in the CA1 pyramidal region of the hippocampus of the ischemic brain.", "output": {"entities": {"gene": [{"text": "CA1", "start": 210, "end": 213}], "disease": [{"text": "ischemia", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Univariate Cox proportional hazard analyses showed a higher risk of late xerostomia for patients with XRCC3 722 TT/CT alleles.", "output": {"entities": {"gene": [{"text": "XRCC3", "start": 102, "end": 107}], "disease": [{"text": "xerostomia", "start": 73, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that the cytogenetically defined translocation t (X; 1) (p11. 2; p34) observed in papillary renal cell carcinomas results in the fusion of the splicing factor gene PSF located at 1p34 to the TFE3 helix-loop-helix transcription factor gene at Xp11. 2.", "output": {"entities": {"gene": [{"text": "PSF", "start": 179, "end": 182}], "disease": [{"text": "translocation", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, a role for Atp8b3 in mouse sperm cell capacitation has been suggested, whereas deficiency of Atp10a and Atp10d leads to insulin resistance and obesity in mice.", "output": {"entities": {"gene": [{"text": "Atp8b3", "start": 24, "end": 30}], "disease": [{"text": "insulin resistance", "start": 133, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Deficiency in coagulation factor IX, a plasma glycoprotein constituent of the clotting cascade, results in hemophilia B, an inherited recessive X-linked bleeding disorder.", "output": {"entities": {"gene": [{"text": "coagulation factor IX", "start": 14, "end": 35}], "disease": [{"text": "hemophilia B", "start": 107, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "coagulation factor IX", "start": 14, "end": 35}, "tail": {"text": "hemophilia B", "start": 107, "end": 119}}]}}, "schema": []}
{"input": "To evaluate the inhibitory effect of vasostatin gene mediated by a replication deficient recombinant adenovirus (Ad) on human pancreatic cancer in vivo and to investigate the mechanism of action of vasostatin.", "output": {"entities": {"gene": [{"text": "vasostatin", "start": 37, "end": 47}], "disease": [{"text": "adenovirus", "start": 101, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that genetic variants within the GHSR are associated with parameters of left ventricular mass (LVM) and geometry.", "output": {"entities": {"gene": [{"text": "GHSR", "start": 49, "end": 53}], "disease": [{"text": "left ventricular mass", "start": 88, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine if XRCC2 mutation is important to uterine carcinosarcoma tumorigenesis and whether the XRCC2 poly-T tract is a target for mutation in cells lacking MMR.", "output": {"entities": {"gene": [{"text": "MMR", "start": 171, "end": 174}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "They also led to increased collagen and fibroblast levels and upregulated transforming growth factor-β (1) (TGF-β (1)) and vimentin transcripts, providing measures of fibrosis and reduced Nav1. 5 expression.", "output": {"entities": {"gene": [{"text": "Nav1. 5", "start": 188, "end": 195}], "disease": [{"text": "fibrosis", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Psychopathological symptoms, doses, and duration of treatment with risperidone, sex, skin color, body mass index (BMI), use of other psychotropic drugs, and polymorphisms of DRD2, HTR2C, CYP2D6, LEP, LEPR, MC4R, and SCARB2 genes were evaluated.", "output": {"entities": {"gene": [{"text": "SCARB2", "start": 216, "end": 222}], "disease": [{"text": "skin color", "start": 85, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "R77H did not affect neutrophil adhesion, neutrophil transmigration in vivo or Toll-like receptor 7/8-mediated cytokine release by monocytes or dendritic cells with or without CR3 pre-engagement by iC3b-coated targets.", "output": {"entities": {"gene": [{"text": "Toll-like receptor 7", "start": 78, "end": 98}], "disease": [{"text": "adhesion", "start": 31, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "We also examined β-catenin expression and the mutation spectrum of PPP2R1A and Wnt pathway genes in 11 cases of GD-CCP, 25 cases of gastric polyps of fundic gland type (GPs-FG), and 21 cases of GPs-FG with dysplasia (GP-FGD).", "output": {"entities": {"gene": [{"text": "β-catenin", "start": 17, "end": 26}], "disease": [{"text": "gastric polyps", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the role of matrix metalloproteinase (MMP)-9 deletion on citrate synthase (CS) activity postmyocardial infarction (MI).", "output": {"entities": {"gene": [{"text": "citrate synthase", "start": 69, "end": 85}], "disease": [{"text": "infarction", "start": 115, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we reviewed data regarding to the pivotal role played by the zinc-gene interaction in affecting some relevant cytokines (IL-6 and TNF-alpha) and heat shock proteins (Hsp70-2) in ageing, successful ageing (nonagenarians) and in some age-related diseases (atherosclerosis and infections).", "output": {"entities": {"gene": [{"text": "Hsp70-2", "start": 181, "end": 188}], "disease": [{"text": "atherosclerosis", "start": 269, "end": 284}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Hsp70-2", "start": 181, "end": 188}, "tail": {"text": "atherosclerosis", "start": 269, "end": 284}}]}}, "schema": []}
{"input": "We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4).", "output": {"entities": {"gene": [{"text": "AP-4", "start": 254, "end": 258}], "disease": [{"text": "developmental delay", "start": 61, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene.", "output": {"entities": {"gene": [{"text": "FCN2 gene", "start": 133, "end": 142}], "disease": [{"text": "recurrent infections", "start": 53, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Thymidylate synthase (TS) and dihydrofolate reductase (DHFR) are target enzymes of inhibition by pemetrexed, an antifolate for treatment of advanced non-small-cell lung cancer (NSCLC).", "output": {"entities": {"gene": [{"text": "DHFR", "start": 55, "end": 59}], "disease": [{"text": "lung cancer", "start": 164, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "Administration of spironolactone (10 and 20 mg/kg) significantly attenuated chronic constriction injury-induced pain related behaviour and foot deformity along with attenuation of TNF-& #945; levels, without modulating vincristine-induced neuropathic pain.", "output": {"entities": {"gene": [{"text": "TNF", "start": 180, "end": 183}], "disease": [{"text": "neuropathic pain", "start": 239, "end": 255}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 180, "end": 183}, "tail": {"text": "neuropathic pain", "start": 239, "end": 255}}]}}, "schema": []}
{"input": "Of 12 esophageal cancer specimens heterozygous for the RsaI polymorphism, 6 (50%) exhibited LOI of H19, but none of the 18 colorectal cancer specimens heterozygous for the RsaI polymorphism exhibited LOI of H19.", "output": {"entities": {"gene": [{"text": "H19", "start": 99, "end": 102}], "disease": [{"text": "esophageal cancer", "start": 6, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.", "output": {"entities": {"gene": [{"text": "EDA1", "start": 17, "end": 21}], "disease": [{"text": "anhidrotic ectodermal dysplasia", "start": 82, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA1", "start": 17, "end": 21}, "tail": {"text": "anhidrotic ectodermal dysplasia", "start": 82, "end": 113}}]}}, "schema": []}
{"input": "The aim of this study was to determine the effect of bacterial infection on Foxo3a in intestinal epithelial cells and to examine the contribution of Foxo3a in intestinal inflammation.", "output": {"entities": {"gene": [{"text": "Foxo3a", "start": 76, "end": 82}], "disease": [{"text": "inflammation", "start": 170, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "To clarify the role of 14-3-3sigma, we examined the protein expressions of 14-3-3sigma, cyclin B1, and p53 in 93 cases of intrahepatic cholangiocarcinoma by immunohistochemical staining.", "output": {"entities": {"gene": [{"text": "cyclin B1", "start": 88, "end": 97}], "disease": [{"text": "intrahepatic cholangiocarcinoma", "start": 122, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "To assess genetic and environmental influences on low back and neck pain in a classic twin design and to examine the extent to which these are explained by structural changes seen on magnetic resonance imaging (MRI) and psychological and lifestyle variables.", "output": {"entities": {"gene": [{"text": "MRI", "start": 211, "end": 214}], "disease": [{"text": "neck pain", "start": 63, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Screening of DKK1 in a cohort of 65 CMI sporadic patients identified another missense variant, the c. 359G & gt; T (p. (R120L)), in two unrelated patients.", "output": {"entities": {"gene": [{"text": "DKK1", "start": 13, "end": 17}], "disease": [{"text": "CMI", "start": 36, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DKK1", "start": 13, "end": 17}, "tail": {"text": "CMI", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "[Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome].", "output": {"entities": {"gene": [{"text": "DAZ", "start": 95, "end": 98}], "disease": [{"text": "infertile", "start": 31, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "All C57BL/6, BALB/c, CBA/J, or Swiss Webster died of acute toxoplasmosis by 3-9 days postinfection upon inoculation with same dose of tachyzoites of the PLK strain.", "output": {"entities": {"gene": [{"text": "PLK", "start": 153, "end": 156}], "disease": [{"text": "toxoplasmosis", "start": 59, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that NO derived from iNOS may be a key factor in the pathogenesis of acute INDO-induced enteropathy in rats.", "output": {"entities": {"gene": [{"text": "iNOS", "start": 38, "end": 42}], "disease": [{"text": "enteropathy", "start": 105, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "iNOS", "start": 38, "end": 42}, "tail": {"text": "enteropathy", "start": 105, "end": 116}}]}}, "schema": []}
{"input": "RAD51 paralog B (RAD51B), the preferential translocation partner of HMGA2, was up-regulated in MED12 mutant lesions, suggesting a role for this gene in the genesis of leiomyomas.", "output": {"entities": {"gene": [{"text": "RAD51B", "start": 17, "end": 23}], "disease": [{"text": "translocation", "start": 43, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Recent studies showed that nutrient and oxygen starvation during tissue ischemia induce certain ER stress response genes, including GRP78; however, the role of ATF6 in mediating this induction has not been examined.", "output": {"entities": {"gene": [{"text": "ATF6", "start": 160, "end": 164}], "disease": [{"text": "ischemia", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "In addition to the reproductive defects, heritable phenotypes were observed in mice with ataxia (Myo5a), tremors (Pmp22), growth retardation (unknown gene), and hydrocephalus (unknown gene).", "output": {"entities": {"gene": [{"text": "Pmp22", "start": 114, "end": 119}], "disease": [{"text": "ataxia", "start": 89, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Expression of K14 (R125C)/K5 caused semi-lethality; adult survivors developed wing blisters and were flightless due to a lack of intercellular adhesion during wing heart development.", "output": {"entities": {"gene": [{"text": "K14", "start": 14, "end": 17}], "disease": [{"text": "adhesion", "start": 143, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "In particular, we identified increases in the mutagenic nonhomologous end joining and single-strand annealing mechanisms in sporadic breast cancers with wild-type BRCA1 and BRCA2, and, thus, similar phenotypes to tumors with mutant alleles of BRCA1 and BRCA2.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 173, "end": 178}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "CaT1 expression correlates with tumor grade in prostate cancer.", "output": {"entities": {"gene": [{"text": "CaT1", "start": 0, "end": 4}], "disease": [{"text": "prostate cancer", "start": 47, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CaT1", "start": 0, "end": 4}, "tail": {"text": "prostate cancer", "start": 47, "end": 62}}]}}, "schema": []}
{"input": "STAT1 and miR-146a may be upregulated during inflammation and via proinflammatory cytokines and chemokines in SLE.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 0, "end": 5}], "disease": [{"text": "inflammation", "start": 45, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "A20 deletion and TNFA/B/C gain were significantly associated (p < 0. 001) and exclusively found in cases without characteristic translocation.", "output": {"entities": {"gene": [{"text": "TNFA", "start": 17, "end": 21}], "disease": [{"text": "translocation", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The aim of the present research was to investigate the possible in vitro stimulatory effect of substance P (SP) on blasts induction in childhood common acute lymphoblastic leukaemia (ALL).", "output": {"entities": {"gene": [{"text": "substance P", "start": 95, "end": 106}], "disease": [{"text": "common acute lymphoblastic leukaemia", "start": 145, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "We describe a knockin mouse with mutationally activated Met (Met (mut)) that develops a high incidence of diverse mammary tumors with basal characteristics, including metaplasia, absence of progesterone receptor and ERBB2 expression, and expression of cytokeratin 5.", "output": {"entities": {"gene": [{"text": "ERBB2", "start": 216, "end": 221}], "disease": [{"text": "metaplasia", "start": 167, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Thus, our results demonstrate that NOX1 is involved in the mechanisms of angiotensin II-dependent aortic dissection.", "output": {"entities": {"gene": [{"text": "angiotensin II", "start": 73, "end": 87}], "disease": [{"text": "aortic dissection", "start": 98, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin II", "start": 73, "end": 87}, "tail": {"text": "aortic dissection", "start": 98, "end": 115}}]}}, "schema": []}
{"input": "The association between the expression of excision repair cross‑complementing gene 1 (ERCC1), thymidylate synthase (TYMS), ribonuleotide reductase M1 (RRM1), βIII‑tubulin (TUBB3), non‑muscle myosin II, myoglobin and MyoD1 in metastatic lung adenocarcinoma, and clinical outcomes with platinum‑based chemotherapy treatment is not well‑established.", "output": {"entities": {"gene": [{"text": "TUBB3", "start": 172, "end": 177}], "disease": [{"text": "metastatic lung adenocarcinoma", "start": 225, "end": 255}]}, "relations": {}}, "schema": []}
{"input": "The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.", "output": {"entities": {"gene": [{"text": "cytoskeletal protein", "start": 250, "end": 270}], "disease": [{"text": "atelosteogenesis", "start": 62, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "This approach to controlling the release behavior of TAT-HSP27 using microsphere/hydrogel combination delivery systems may be useful for treating myocardial infarction in a minimally invasive manner.", "output": {"entities": {"gene": [{"text": "TAT", "start": 53, "end": 56}], "disease": [{"text": "myocardial infarction", "start": 146, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The FUS-CREB3L2 fusion transcripts were not detected in any of the 123 other soft-tissue tumors, including desmoid-type fibromatoses, myxofibrosarcomas, soft-tissue perineuriomas, and congenital or adult fibrosarcomas.", "output": {"entities": {"gene": [{"text": "FUS", "start": 4, "end": 7}], "disease": [{"text": "desmoid", "start": 107, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P & #8202; & lt; & #8202; 0. 005).", "output": {"entities": {"gene": [{"text": "EGFR", "start": 31, "end": 35}], "disease": [{"text": "dermatitis", "start": 129, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGFR", "start": 31, "end": 35}, "tail": {"text": "dermatitis", "start": 129, "end": 139}}]}}, "schema": []}
{"input": "We investigated whether the RyR2 rs3766871 variant is associated with aborted sudden cardiac death or ICD therapy for ventricular tachycardia (VT)/fibrillation (VF) in heart failure (HF) patients implanted with a cardioverter defibrillator (ICD).", "output": {"entities": {"gene": [{"text": "RyR2", "start": 28, "end": 32}], "disease": [{"text": "aborted sudden cardiac death", "start": 70, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We analyzed exons 19 and 21 coding for the receptor tyrosine kinase of the epidermal growth factor gene in 105 samples of esophageal (Barrett' s) adenocarcinoma by denaturing high-pressure liquid chromatography.", "output": {"entities": {"gene": [{"text": "epidermal growth factor", "start": 75, "end": 98}], "disease": [{"text": "esophageal", "start": 122, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Human mutations of ank lead to craniometaphyseal dysplasia, a disease which is characterized by the overgrowth of craniofacial bones and osteopenia in long bones, suggesting that ANK plays a regulatory role in osteoblast differentiation.", "output": {"entities": {"gene": [{"text": "ANK", "start": 179, "end": 182}], "disease": [{"text": "osteopenia", "start": 137, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "For instance, GLUT2 translocation from an intracellular pool to the apical membrane after a sugar meal transiently increases sugar uptake by enterocytes (reviewed in 32).", "output": {"entities": {"gene": [{"text": "GLUT2", "start": 14, "end": 19}], "disease": [{"text": "translocation", "start": 20, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "We show that DCOVA-P30 vaccine also stimulates more efficient therapeutic immunity against OVA-expressing BL6-10OVA melanoma than DCOVA in C57BL/6 mice.", "output": {"entities": {"gene": [{"text": "P30", "start": 19, "end": 22}], "disease": [{"text": "melanoma", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "There is evidence that several cytokines, including adiponectin, TNF-alpha, and IL-6, are involved in insulin sensitivity.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 80, "end": 84}], "disease": [{"text": "insulin sensitivity", "start": 102, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "We analyzed for LINE-1 hypomethylation and hypermethylation at 7 CIMP-specific CpG islands (CACNA1G, CRABP1, IGF2, MLH1, NEUROG1, RUNX3 and SOCS1); microsatellite instability (MSI); KRAS, BRAF and PIK3CA mutations; and expression of TP53 (p53), CTNNB1 (β-catenin), CDKN1A (p21), CDKN1B (p27), CCND1 (cyclin D1), FASN (fatty acid synthase) and PTGS2 (cyclooxygenase-2).", "output": {"entities": {"gene": [{"text": "SOCS1", "start": 140, "end": 145}], "disease": [{"text": "microsatellite instability", "start": 148, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "The purpose of our study was to evaluate the expression and correlation of heparanase and VEGF in hypoxia-induced retinal neovascularization.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 75, "end": 85}], "disease": [{"text": "hypoxia", "start": 98, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "The role of the LPA pathway in driving chronic lung diseases such as idiopathic pulmonary fibrosis (IPF) has gained considerable academic and industry attention.", "output": {"entities": {"gene": [{"text": "LPA", "start": 16, "end": 19}], "disease": [{"text": "lung diseases", "start": 47, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we detected the endogenous protein complex containing ICAT, AR, and β-catenin in prostate cancer cells using immunoprecipitation assays.", "output": {"entities": {"gene": [{"text": "ICAT", "start": 64, "end": 68}], "disease": [{"text": "prostate cancer", "start": 91, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "PLAA has not previously been described as a susceptibility gene, but 9p21 is implied as a schizophrenia linkage region.", "output": {"entities": {"gene": [{"text": "PLAA", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 90, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLAA", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 90, "end": 103}}]}}, "schema": []}
{"input": "To investigate whether or not alternatively spliced variants of the FSH receptor gene occur in human testis and whether the presence of the splicing variants is associated with spermatogenic defects and serum FSH concentration in infertile men.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 68, "end": 80}], "disease": [{"text": "infertile", "start": 230, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "We determined clinical and biochemical parameters in two familial and four sporadic Japanese patient and analyzed the status of the NR3C2 gene.", "output": {"entities": {"gene": [{"text": "NR3C2 gene", "start": 132, "end": 142}], "disease": [{"text": "sporadic", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "A more complete understanding of the physiologic roles of PLC isozymes and their contributions to specific aspects of cellular function should advance our understanding of vascular tone/reactivity and hypertrophy/remodeling in normal and hypertensive states.", "output": {"entities": {"gene": [{"text": "PLC", "start": 58, "end": 61}], "disease": [{"text": "hypertrophy", "start": 201, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We also evaluated the expression level of Kv1. 3 in each stage of breast cancer using mRNA isolated from breast cancer patients.", "output": {"entities": {"gene": [{"text": "Kv1. 3", "start": 42, "end": 48}], "disease": [{"text": "breast cancer", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.", "output": {"entities": {"gene": [{"text": "LIPN", "start": 14, "end": 18}], "disease": [{"text": "congenital ichthyosis", "start": 97, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LIPN", "start": 14, "end": 18}, "tail": {"text": "congenital ichthyosis", "start": 97, "end": 118}}]}}, "schema": []}
{"input": "This distinguishes MSSE from the Marfan syndrome-related disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.", "output": {"entities": {"gene": [{"text": "TGFBR1", "start": 98, "end": 104}], "disease": [{"text": "MSSE", "start": 19, "end": 23}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGFBR1", "start": 98, "end": 104}, "tail": {"text": "MSSE", "start": 19, "end": 23}}]}}, "schema": []}
{"input": "(1) Patients with primary (n = 13) and secondary (n = 11) PAH but not those with chronic thromboembolic pulmonary hypertension (n = 8) had increased plasma levels of soluble (s) CD40L compared with control subjects (n = 8).", "output": {"entities": {"gene": [{"text": "CD40L", "start": 178, "end": 183}], "disease": [{"text": "pulmonary hypertension", "start": 104, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD40L", "start": 178, "end": 183}, "tail": {"text": "pulmonary hypertension", "start": 104, "end": 126}}]}}, "schema": []}
{"input": "In an attempt to dissect the role played by mGluR2 and mGluR3 in cue-induced reinstatement, we analyzed the mRNA expression patterns in several relevant brain areas but did not find any significant differences between cocaine addict-like and non-addict-like rats, suggesting that the behavioral differences observed are due to translational rather than transcriptional regulation.", "output": {"entities": {"gene": [{"text": "mGluR3", "start": 55, "end": 61}], "disease": [{"text": "cocaine addict", "start": 218, "end": 232}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mGluR3", "start": 55, "end": 61}, "tail": {"text": "cocaine addict", "start": 218, "end": 232}}]}}, "schema": []}
{"input": "DNA cytophotometry was performed in 12 cases of eAd HCC, in which the early HCC component, advanced HCC component and non-tumorous liver tissue showing chronic hepatitis or cirrhosis were analyzed separately.", "output": {"entities": {"gene": [{"text": "HCC", "start": 52, "end": 55}], "disease": [{"text": "chronic hepatitis", "start": 152, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using markers from Xq26-q27, followed by linkage analysis and sequencing of a candidate gene, solute carrier family 25, member 14 (SLC25A14), in four affected individuals from four families linked to this region.", "output": {"entities": {"gene": [{"text": "SLC25A14", "start": 288, "end": 296}], "disease": [{"text": "congenital nystagmus", "start": 103, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that the HNF1A p. I27L (rs1169288) variant may be a significant risk factor of T2DM in normal-weight subjects and that earlier inconsistent results may have been due, in part, to subjects' weight status.", "output": {"entities": {"gene": [{"text": "HNF1A", "start": 32, "end": 37}], "disease": [{"text": "weight", "start": 117, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Thus, it appears that genetically determined signals for either proliferation or differentiation would lead CD5 + B cells to cause distinct disease, i. e., autoimmune disease or lymphoid malignancy.", "output": {"entities": {"gene": [{"text": "CD5", "start": 108, "end": 111}], "disease": [{"text": "autoimmune disease", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "In group III, protein loss was detected in 12/38 patients (9 MLH1, 3 MSH2), while in 3/11 patients with concurrent endometrial hyperplasia protein loss was also observed in the hyperplasia.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 61, "end": 65}], "disease": [{"text": "hyperplasia", "start": 127, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Nonetheless, mice with null mutations for NF-L or for both NF-M and NF-H genes developed severe atrophy of ventral and dorsal root axons.", "output": {"entities": {"gene": [{"text": "NF-M", "start": 59, "end": 63}], "disease": [{"text": "atrophy", "start": 96, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.", "output": {"entities": {"gene": [{"text": "SMARCD1", "start": 54, "end": 61}], "disease": [{"text": "hypotonia", "start": 138, "end": 147}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMARCD1", "start": 54, "end": 61}, "tail": {"text": "hypotonia", "start": 138, "end": 147}}]}}, "schema": []}
{"input": "We pooled data from 10 existing studies and also conducted a meta-analysis of 13 studies published from 1996 to October 2006 that were conducted among women, were published in English, and had adequate information on smoking and NAT2 genotyping.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 229, "end": 233}], "disease": [{"text": "smoking", "start": 217, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Since the combined effects of CD40 plus interleukin-4 (IL-4) mediate IgH isotype class switch recombination (CSR), and this process involves DNA double strand break repair (DSBR), we hypothesized that CD40 and/or IL-4 activation of MM cells could induce abnormal DNA DSBR and lead to genomic instability and clonal evolution.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 55, "end": 59}], "disease": [{"text": "genomic instability", "start": 284, "end": 303}]}, "relations": {}}, "schema": []}
{"input": "The effects of heat treatment on the viability and fibrinolytic potential of four cultured human carcinoma cell lines, fibrosarcoma cells (HT-1080), lung adenocarcinoma cells with highly metastatic potential (HAL-8), melanoma cells (Bowes) and osteosarcoma cells (NY), determined by measuring their levels of urokinase-type plasminogen activator (u-PA) and its specific receptor (u-PAR), were investigated by comparing them with those of human umbilical vein endothelial cells (HUVECs).", "output": {"entities": {"gene": [{"text": "HAL", "start": 209, "end": 212}], "disease": [{"text": "fibrosarcoma", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate that miR-142-3p downregulation has a role in thyroid tumorigenesis, by regulating ASH1L and MLL1.", "output": {"entities": {"gene": [{"text": "MLL1", "start": 115, "end": 119}], "disease": [{"text": "tumorigenesis", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In infertile men with a microdeletion of the DAZ gene, this method allows amplification of an internal control when a deletion of that portion of the Yq chromosome is observed on a single amplification.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 45, "end": 48}], "disease": [{"text": "infertile", "start": 3, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Wild-type or APP/PS1 mice that received type II collagen (CII) in complete Freund' s adjuvant (CFA) at 2 months of age revealed characteristics of RA, such as joint swelling, synovitis, and cartilage and bone degradation 4 months later.", "output": {"entities": {"gene": [{"text": "APP", "start": 13, "end": 16}], "disease": [{"text": "synovitis", "start": 175, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "HGF gene therapy could be a new approach for preventing excessive dermal scarring in wound healing.", "output": {"entities": {"gene": [{"text": "HGF gene", "start": 0, "end": 8}], "disease": [{"text": "scarring", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "We developed an all-in-one web-based tool for genotyping Mtb, referred to as the Total Genotyping Solution for TB (TGS-TB), to facilitate multiple genotyping platforms using NGS for spoligotyping and the detection of phylogenies with core genomic SNVs, IS6110 insertion sites, and 43 customized loci for variable number tandem repeat (VNTR) through a user-friendly, simple click interface.", "output": {"entities": {"gene": [{"text": "TGS", "start": 115, "end": 118}], "disease": [{"text": "all", "start": 16, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Clear cell sarcoma (CCS), a rare tumour of deep soft tissues, often has a t (12; 22) (q13; q12) translocation that induces the formation of a hybrid EWS/ATF-1 gene.", "output": {"entities": {"gene": [{"text": "EWS", "start": 149, "end": 152}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "PRI-2191 alone had no effect on gene expression, but it enhanced the seizure-evoked expression of HSP-70, had an opposite effect on BDNF mRNA level and did not affect prepro-TRH mRNA level.", "output": {"entities": {"gene": [{"text": "TRH", "start": 174, "end": 177}], "disease": [{"text": "seizure", "start": 69, "end": 76}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRH", "start": 174, "end": 177}, "tail": {"text": "seizure", "start": 69, "end": 76}}]}}, "schema": []}
{"input": "Here, the role of c-FLIP in the regulation of death receptor-mediated apoptosis in pancreatic cancer was investigated.", "output": {"entities": {"gene": [{"text": "c-FLIP", "start": 18, "end": 24}], "disease": [{"text": "pancreatic cancer", "start": 83, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "c-FLIP", "start": 18, "end": 24}, "tail": {"text": "pancreatic cancer", "start": 83, "end": 100}}]}}, "schema": []}
{"input": "Although it is not a primary cause of retinal blindness in humans, we show that an allele of AHI1 is associated with a more than sevenfold increase in relative risk of retinal degeneration within a cohort of individuals with the hereditary kidney disease nephronophthisis.", "output": {"entities": {"gene": [{"text": "AHI1", "start": 93, "end": 97}], "disease": [{"text": "retinal degeneration", "start": 168, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AHI1", "start": 93, "end": 97}, "tail": {"text": "retinal degeneration", "start": 168, "end": 188}}]}}, "schema": []}
{"input": "Multivariate analysis by ordinal regression showed that pneumonia (odds ratio, 3. 39; 95% confidence interval, 1. 49-7. 61; P =. 004) and sputum production (odds ratio, 1. 75; 95% CI, 1. 01-3. 01; P =. 046) were the 2 independent factors associated with a higher level of convalescent NAT.", "output": {"entities": {"gene": [{"text": "NAT", "start": 285, "end": 288}], "disease": [{"text": "pneumonia", "start": 56, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "The SE and the IL10 GGC haplotype are associated with severe progression of radiographic damage, in contrast to the DQA1 * 05-DQB1 * 02 haplotype and the TNF-308A allele, which are associated with mild radiographic progression in early UA.", "output": {"entities": {"gene": [{"text": "GGC", "start": 20, "end": 23}], "disease": [{"text": "mild", "start": 197, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "MSH6 germline mutations are rare in colorectal cancer families.", "output": {"entities": {"gene": [{"text": "MSH6", "start": 0, "end": 4}], "disease": [{"text": "colorectal cancer", "start": 36, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MSH6", "start": 0, "end": 4}, "tail": {"text": "colorectal cancer", "start": 36, "end": 53}}]}}, "schema": []}
{"input": "When included in the same model, CFTR genotype, but not sweat chloride, was independently associated with survival and with lung function, height, and BMI.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 33, "end": 37}], "disease": [{"text": "height", "start": 139, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "These results showed that, in contrast to the reports on breast cancer, NDP kinase/nm23 expression in human pancreatic cancer is positively associated with lymph node metastasis or perineural invasion and with poor prognosis.", "output": {"entities": {"gene": [{"text": "NDP", "start": 72, "end": 75}], "disease": [{"text": "lymph node metastasis", "start": 156, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "Assessment of smoking status and smoking exposure in current/light/heavy smokers showed that the risk of COPD was significantly elevated among individuals with 3-4 of hOGG1 326Cys and XRCC1 399Gln alleles (adjusted OR = 8. 32, 95% CI 3. 59-19. 27, P = 0. 000; OR = 5. 46, 95% CI 2. 06-14. 42, P = 0. 001; OR = 2. 93, 95% CI 1. 43-6. 02, P = 0. 003; respectively).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 184, "end": 189}], "disease": [{"text": "smoking", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "The precise disease mechanism (s) in familial forms and sporadic forms of PDB is unclear, although defective RANK-NF-kappaB signalling has been suggested to contribute to the increased activity of pagetic osteoclasts in the former.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 114, "end": 123}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The phosphorylation of NHERF1 in the serine site was regulated by PRL-3 and showed cytoplasmic translocation upon dephosphorylation, which resulted in a decrease in nuclear PTEN.", "output": {"entities": {"gene": [{"text": "PRL-3", "start": 66, "end": 71}], "disease": [{"text": "translocation", "start": 95, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "P2X (7) receptor message and protein expression and functional activity were tested in two cell lines (FB1 and FB2) established from either anaplastic or papillary primary thyroid cancer and in several histological samples of human papillary cancer.", "output": {"entities": {"gene": [{"text": "FB1", "start": 103, "end": 106}], "disease": [{"text": "cancer", "start": 180, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Progesterone receptor gene polymorphisms are not associated with preterm birth in a Hispanic population.", "output": {"entities": {"gene": [{"text": "Progesterone receptor gene", "start": 0, "end": 26}], "disease": [{"text": "preterm birth", "start": 65, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "The beat shock protein HSP70 recognizes a specific region of SOX9 hitherto of unknown function which may facilitate the assembly of multi-protein complexes at promoter enhancer regions.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 23, "end": 28}], "disease": [{"text": "shock", "start": 9, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Tissue glutathione content declined gradually during ischemia to reperfusion and was partially recovered with CAPE treatment.", "output": {"entities": {"gene": [{"text": "CAPE", "start": 110, "end": 114}], "disease": [{"text": "ischemia", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "TAC1 promoter hypermethylation was examined by real-time methylation-specific PCR in 258 human esophageal specimens and 126 plasma samples from patients or tissues at various stages of neoplastic evolution.", "output": {"entities": {"gene": [{"text": "TAC1", "start": 0, "end": 4}], "disease": [{"text": "esophageal", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Seventy-nine specimens of ascites and pleural fluids were analyzed by diagnostic cytology, DNA flow cytometry, and for the expression of the following markers: Ber-EP4, progesterone (PR), MUC4, and thyroid transcription factor-1 (TTF-1).", "output": {"entities": {"gene": [{"text": "MUC4", "start": 188, "end": 192}], "disease": [{"text": "ascites", "start": 26, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "These CR1 (hu) Tg/CFH (-/-) mice spontaneously developed proliferative glomerulonephritis, which was accelerated in a chronic serum sickness model by active immunization with heterologous apoferritin.", "output": {"entities": {"gene": [{"text": "apoferritin", "start": 188, "end": 199}], "disease": [{"text": "proliferative glomerulonephritis", "start": 57, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Although the severity of fibrosis varied among the specimens tested, ECM gene expression was consistently high without substantial changes through the clinical course.", "output": {"entities": {"gene": [{"text": "ECM", "start": 69, "end": 72}], "disease": [{"text": "fibrosis", "start": 25, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Role of ADAM-17, p38 MAPK, cathepsins, and the proteasome pathway in the synthesis and shedding of fractalkine/CX₃ CL1 in rheumatoid arthritis.", "output": {"entities": {"gene": [{"text": "CL1", "start": 115, "end": 118}], "disease": [{"text": "rheumatoid arthritis", "start": 122, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We have demonstrated that these (CD4 +) CD25 + regulatory T cells (Treg) influence susceptibility to thyroiditis in naive, as well as mTg-tolerized mice.", "output": {"entities": {"gene": [{"text": "CD4", "start": 33, "end": 36}], "disease": [{"text": "thyroiditis", "start": 101, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "mRNA and protein levels of TNFalpha, IL-12 (p35), IL-12 (p40), IL-15, IL-18 and IL-23 (p19) were quantified in biopsies from active CD patients, CD patients on a gluten-free diet (GFD), healthy controls, and patients with non-CD inflammation and mild histological changes in the intestine.", "output": {"entities": {"gene": [{"text": "p19", "start": 87, "end": 90}], "disease": [{"text": "inflammation", "start": 229, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "In addition, we demonstrate for the first time that rHuEpo reduces considerably hippocampal neurodegeneration following SE. rHuEpo may thus supplement astroglial induction of Epo to promote enhanced hippocampal neuronal survival following SE.", "output": {"entities": {"gene": [{"text": "Epo", "start": 55, "end": 58}], "disease": [{"text": "neurodegeneration", "start": 92, "end": 109}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Epo", "start": 55, "end": 58}, "tail": {"text": "neurodegeneration", "start": 92, "end": 109}}]}}, "schema": []}
{"input": "Here, we examined at what stage of breast disease 14-3-3 zeta overexpression occurs, and we found that increased expression of 14-3-3 zeta begins at atypical ductal hyperplasia, an early stage of breast disease.", "output": {"entities": {"gene": [{"text": "14-3-3 zeta", "start": 50, "end": 61}], "disease": [{"text": "breast disease", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate Ets-1 and HIF1alpha as critical regulators of basal and hypoxia-or ROS-induced ZNF267 expression in HCC, and further suggest that the pro-tumorigenic effect of these factors is at least in part mediated via increased ZNF267 expression in HCC.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 24, "end": 29}], "disease": [{"text": "hypoxia", "start": 80, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Secretory nonpancreatic phospholipase A2 (group II sPLA2) is induced in inflammation and present in atherosclerotic lesions.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 51, "end": 56}], "disease": [{"text": "inflammation", "start": 72, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The present study indicates that the hOGG1 gene Cys/Cys variant is associated with a significant decrease in insulin sensitivity in subjects with normal glucose tolerance.", "output": {"entities": {"gene": [{"text": "hOGG1", "start": 37, "end": 42}], "disease": [{"text": "insulin sensitivity", "start": 109, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "HOE 140 significantly reduced the hyperemia induced by bradykinin and intraduodenal capsaicin or acid.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 55, "end": 65}], "disease": [{"text": "hyperemia", "start": 34, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 55, "end": 65}, "tail": {"text": "hyperemia", "start": 34, "end": 43}}]}}, "schema": []}
{"input": "chronic atrophic gastritis, intestinal metaplasia and invasive carcinoma, are associated with a reallocation of the LGR5 (+) cells.", "output": {"entities": {"gene": [{"text": "LGR5", "start": 116, "end": 120}], "disease": [{"text": "chronic atrophic gastritis", "start": 0, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Our aims were to replicate some previously reported associations of single nucleotide polymorphisms (SNPs) in five genes (A2BP1, COG5, GDF5, HFE, ESR1) with hand osteoarthritis (OA), and to examine whether genes (BCAP29, DIO2, DUS4L, DVWA, HLA, PTGS2, PARD3B, TGFB1 and TRIB1) associated with OA at other joint sites were associated with hand OA among Finnish women.", "output": {"entities": {"gene": [{"text": "TRIB1", "start": 270, "end": 275}], "disease": [{"text": "osteoarthritis", "start": 162, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.", "output": {"entities": {"gene": [{"text": "PINK1 gene", "start": 22, "end": 32}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "NEF3", "start": 186, "end": 190}], "disease": [{"text": "bipolar disorder", "start": 332, "end": 348}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NEF3", "start": 186, "end": 190}, "tail": {"text": "bipolar disorder", "start": 332, "end": 348}}]}}, "schema": []}
{"input": "The present study suggests that, in a subgroup of patients with complete heart block, the development of heart block is B27-associated, and that the pathophysiological mechanism is similar to that leading to ankylosing spondylitis.", "output": {"entities": {"gene": [{"text": "B27", "start": 120, "end": 123}], "disease": [{"text": "complete heart block", "start": 64, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Surprisingly, biallelic mutations in the BRCA2 breast-cancer-susceptibility gene were found in Fanconi anemia (FA), a rare hereditary disorder characterized by chromosomal instability, hypersensitivity to DNA cross-linking agents, and cancer susceptibility.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 41, "end": 46}], "disease": [{"text": "chromosomal instability", "start": 160, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Using combined molecular biological, fluorescence microscopy, and biophysical approaches, we examined the effect of chronic hypoxia (3% O2, 72 h) on AP-1 DNA binding activity, CCE, and transient receptor potential (TRP) gene expression in human (h) PAEC.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 149, "end": 153}], "disease": [{"text": "hypoxia", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Hypermethylation of TSG can be detected in serum of prostate cancer patients.", "output": {"entities": {"gene": [{"text": "TSG", "start": 20, "end": 23}], "disease": [{"text": "prostate cancer", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Twenty-nine (21%) and 40 (40%) study and SOC patients, respectively, had advanced fibrosis (F3/4; P = 0. 001).", "output": {"entities": {"gene": [{"text": "SOC", "start": 41, "end": 44}], "disease": [{"text": "fibrosis", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "AGR2 SV-G and SV-H are potential diagnostic biomarkers for the non-invasive detection of PCa using urine exosomes.", "output": {"entities": {"gene": [{"text": "AGR2", "start": 0, "end": 4}], "disease": [{"text": "PCa", "start": 89, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGR2", "start": 0, "end": 4}, "tail": {"text": "PCa", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "This suggests CKI defects are frequently responsible for neoplastic transformation in canine mammary carcinomas.", "output": {"entities": {"gene": [{"text": "CKI", "start": 14, "end": 17}], "disease": [{"text": "neoplastic transformation", "start": 57, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "To investigate the correlation between the expressions of human telomerase reverse transcriptase (hTERT) and vascular endothelial growth factor (VEGF) in prostate cancer (PCa) and benign prostatic hyperplasia (BPH), and to determine if hTERT was correlated with VEGF-promoted tumor cell proliferation in prostate cancer.", "output": {"entities": {"gene": [{"text": "telomerase reverse transcriptase", "start": 64, "end": 96}], "disease": [{"text": "benign prostatic hyperplasia", "start": 180, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "No difference in occurrence of mutations between polyploid and diploid tumors was observed for BAP1, SF3B1, EIF1AX, GNAQ, and GNA11.", "output": {"entities": {"gene": [{"text": "BAP1", "start": 95, "end": 99}], "disease": [{"text": "polyploid", "start": 49, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Moreover, mouse hearts isolated from GNB3 (-/-) and controls responded equivalently to muscarinic receptor-and β-adrenergic receptor-stimulated bradycardia and tachycardia, respectively.", "output": {"entities": {"gene": [{"text": "GNB3", "start": 37, "end": 41}], "disease": [{"text": "bradycardia", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that changes are apparent in markers for abnormal glial-neuronal communication (connexin 43 and aquaporin 4) in brains of subjects with autism.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 99, "end": 110}], "disease": [{"text": "autism", "start": 155, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "connexin 43", "start": 99, "end": 110}, "tail": {"text": "autism", "start": 155, "end": 161}}]}}, "schema": []}
{"input": "Key attributes defining the malignant phenotype of melanoma cells including survival, invasiveness, and switch from E-cadherin to N-cadherin expression were more prominent in cells with lower GCLC expression.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 192, "end": 196}], "disease": [{"text": "melanoma", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Glutathione S-transferase mu 3 (GSTM3) has been proven to be downregulated in renal cell carcinoma (RCC).", "output": {"entities": {"gene": [{"text": "GSTM3", "start": 32, "end": 37}], "disease": [{"text": "renal cell carcinoma", "start": 78, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Weight, height, BMI, SBP, DBP, fasting glucose, lipid profile, proinsulin, insulin, leptin, and adiponectin (RIA) of patients were also obtained.", "output": {"entities": {"gene": [{"text": "DBP", "start": 26, "end": 29}], "disease": [{"text": "height", "start": 8, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia: A Low-Burden Disease with Dramatic Response to Imatinib-A Report of 5 Cases from South India.", "output": {"entities": {"gene": [{"text": "FIP1L1", "start": 0, "end": 6}], "disease": [{"text": "Chronic Eosinophilic Leukemia", "start": 23, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FIP1L1", "start": 0, "end": 6}, "tail": {"text": "Chronic Eosinophilic Leukemia", "start": 23, "end": 52}}]}}, "schema": []}
{"input": "Two RANTES-403 (G to A) and-28 (C to G), an-1055 IL-13 (C to T), and a-444 (A to C) leukotriene C4 synthase (LTC4S) single nucleotide polymorphisms (SNPs) have been shown in Caucasians and Asians as asthma and atopy risk factors.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 49, "end": 54}], "disease": [{"text": "atopy", "start": 210, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Multivariate survival analysis using Cox regression model confirmed FGFR1-positive patients had a significant reduction in the risk of death compared to FGFR1-negative patients (HR 0. 6; p = 0. 02).", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 68, "end": 73}], "disease": [{"text": "regression", "start": 41, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The defective gene responsible for this disease was recently isolated, and several different mutations in the novel gene, AIRE, have been identified, by us and by others, in patients with APECED.", "output": {"entities": {"gene": [{"text": "AIRE", "start": 122, "end": 126}], "disease": [{"text": "APECED", "start": 188, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 122, "end": 126}, "tail": {"text": "APECED", "start": 188, "end": 194}}]}}, "schema": []}
{"input": "Simultaneously expressed miR-424 and miR-381 synergistically suppress the proliferation and survival of renal cancer cells---Cdc2 activity is up-regulated by targeting WEE1.", "output": {"entities": {"gene": [{"text": "WEE1", "start": 168, "end": 172}], "disease": [{"text": "renal cancer", "start": 104, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "PRKAR1A is a key component of the cyclic AMP signaling pathway that has been implicated in endocrine tumorigenesis and could, at least partly, function as a tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 0, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "The results of this study suggest that GSTP1, INSIG2 and IL4Ra may influence the lifetime asthma susceptibility through gene-gene interactions in schoolchildren.", "output": {"entities": {"gene": [{"text": "INSIG2", "start": 46, "end": 52}], "disease": [{"text": "asthma susceptibility", "start": 90, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate that miR-323 may increase VEGF-A-mediated cancer vascularization in PC cells through AdipoR1 suppression.", "output": {"entities": {"gene": [{"text": "AdipoR1", "start": 106, "end": 113}], "disease": [{"text": "vascularization", "start": 70, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "In previous studies, we have shown the clinical significance of two tyrosine kinases identified in gastric cancer, tie-1 and mkk4.", "output": {"entities": {"gene": [{"text": "mkk4", "start": 125, "end": 129}], "disease": [{"text": "gastric cancer", "start": 99, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In vivo experiments with murine models have shown that SP-D can protect against allergic challenge via a range of mechanisms including inhibition of allergen-IgE interaction, histamine release by sensitised mast cells, downregulation of specific IgE production, suppression of pulmonary and peripheral eosinophilia, inhibition of mechanisms that cause airway remodelling, and induction of apoptosis in sensitised eosinophils.", "output": {"entities": {"gene": [{"text": "SP-D", "start": 55, "end": 59}], "disease": [{"text": "airway remodelling", "start": 352, "end": 370}]}, "relations": {}}, "schema": []}
{"input": "We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied.", "output": {"entities": {"gene": [{"text": "SMCHD1", "start": 67, "end": 73}], "disease": [{"text": "BAMS", "start": 141, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMCHD1", "start": 67, "end": 73}, "tail": {"text": "BAMS", "start": 141, "end": 145}}]}}, "schema": []}
{"input": "Pharmacological inhibition of Pin1 by Juglone prevents hyperglycemia-induced vascular dysfunction.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 30, "end": 34}], "disease": [{"text": "hyperglycemia", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "A feasibility study was performed to examine the safety and toxicity profile of daily gefitinib (250 mg) administration with concurrent definitive thoracic radiation therapy (TRT) in patients with unresectable non-small cell lung cancer (NSCLC) of stage III.", "output": {"entities": {"gene": [{"text": "TRT", "start": 175, "end": 178}], "disease": [{"text": "thoracic", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We examined toll-like receptor 4 (TLR4) as a candidate gene for AMD susceptibility because: (i) the TLR4 gene is located on chromosome 9q32-33, a region exhibiting evidence of linkage to AMD in three independent reports; (ii) the TLR4-D299G variant is associated with reduced risk of atherosclerosis, a chronic inflammatory disease with subendothelial accumulation; (iii) the TLR4 is not only a key mediator of proinflammatory signaling pathways but also linked to regulation of cholesterol efflux and (iv) the TLR4 participates in phagocytosis of photoreceptor outer segments by the RPE.", "output": {"entities": {"gene": [{"text": "RPE", "start": 584, "end": 587}], "disease": [{"text": "atherosclerosis", "start": 284, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Using the polymerase chain reaction, we have amplified exons 5 and 6 of the human p53 gene from paired samples of tumour and blood DNA of 60 patients with sporadic breast tumours and from placental or tonsil DNA of 30 normal controls.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 82, "end": 90}], "disease": [{"text": "sporadic", "start": 155, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Factor VII antigen and coagulant activity was significantly elevated in first degree relatives, as was factor VII antigen in the patients with ischemic heart disease.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 103, "end": 113}], "disease": [{"text": "ischemic heart disease", "start": 143, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The expression level of Mimitin was found to be correlated with that of c-Myc and cell proliferation, but not with the histopathological grade, stage of cancer, or age of patients.", "output": {"entities": {"gene": [{"text": "Mimitin", "start": 24, "end": 31}], "disease": [{"text": "cancer", "start": 153, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Proatherosclerotic lipid abnormalities are associated with both enhanced oxidant stress and the generation of biologically active oxidized lipids, including potential ligands for the scavenger receptor CD36, a major platelet glycoprotein.", "output": {"entities": {"gene": [{"text": "CD36", "start": 202, "end": 206}], "disease": [{"text": "abnormalities", "start": 25, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "A 73-year-old man presented with typical lesions of disseminated superficial porokeratosis (DSP) and multiple seborrhoeic keratoses on his face, trunk and extremities, and later developed a keratoacanthoma on his lip.", "output": {"entities": {"gene": [{"text": "DSP", "start": 92, "end": 95}], "disease": [{"text": "keratoacanthoma", "start": 190, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "To identify other genes that may interact with DJ-1A in regulating cell survival, we performed genetic interaction studies and identified components of the phosphatidylinositol 3-kinase (PI3K)/Akt-signaling pathway as specific modulators of DJ-1A RNAi-induced neurodegeneration.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 187, "end": 191}], "disease": [{"text": "neurodegeneration", "start": 260, "end": 277}]}, "relations": {}}, "schema": []}
{"input": "Activation of MyD88-dependent TLR1/2 signaling by misfolded α-synuclein, a protein linked to neurodegenerative disorders.", "output": {"entities": {"gene": [{"text": "MyD88", "start": 14, "end": 19}], "disease": [{"text": "neurodegenerative disorders", "start": 93, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "),-21,-22 [20]/idemx2 [5] and displays known, chordoma-typical genetic changes, such as chromosomal gains at T/brachyury locus (6q27), losses at 9p24. 3-p13. 1 (includes the CDKN2a/CDKN2b locus), 10p15. 3-q23. 32 (includes the PTEN locus) and losses of 10q25. 2 (includes the PDCD4 locus).", "output": {"entities": {"gene": [{"text": "CDKN2b", "start": 181, "end": 187}], "disease": [{"text": "chordoma", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "After evaluation of secondary causes of eosinophilia, the 2008 World Health Organization establishes a semi-molecular classification scheme of disease subtypes including' myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1', chronic eosinophilic leukemia, not otherwise specified, (CEL, NOS), lymphocyte-variant hypereosinophilia, and idiopathic hypereosinophilic syndrome (HES), which is a diagnosis of exclusion.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 241, "end": 247}], "disease": [{"text": "abnormalities", "start": 224, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "In addition, AR inhibition also prevented the hypoxia-induced inflammatory molecules such as Cox-2 and PGE2 and expression of extracellular matrix proteins such as MMP2, vimentin, uPAR, and lysyl oxidase 2.", "output": {"entities": {"gene": [{"text": "lysyl oxidase", "start": 190, "end": 203}], "disease": [{"text": "hypoxia", "start": 46, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Collagen & #8197; I & #8197; and IGF-1 expression was increased, and SIRT1 expression was decreased (0. 67 & #177; 0. 04 vs 1. 05 & #177; 0. 07, P & lt; 0. 001) in TNBS-induced colitis compared with the control group.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 69, "end": 74}], "disease": [{"text": "colitis", "start": 177, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIRT1", "start": 69, "end": 74}, "tail": {"text": "colitis", "start": 177, "end": 184}}]}}, "schema": []}
{"input": "Ten weeks after the onset of diabetes, albuminuria and expression of nephrin, synaptopodin, and zonula occludens-1 were examined by immunofluorescence and immunoblotting.", "output": {"entities": {"gene": [{"text": "synaptopodin", "start": 78, "end": 90}], "disease": [{"text": "diabetes", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "In this work, we present the construction of a recombinant adenovirus carrying the XPD gene, which is coexpressed with the EGFP reporter gene by an IRES sequence, making it easier to follow cell infection.", "output": {"entities": {"gene": [{"text": "XPD gene", "start": 83, "end": 91}], "disease": [{"text": "adenovirus", "start": 59, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into this issue, we analysed tumours from 65 Jewish women with ovarian cancer, 29 (45%) were 185delAG BRCA1 mutation carriers, and 36 (55%) were non-carriers of any of the predominant Jewish mutations in BRCA1 or BRCA2 (sporadic).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 229, "end": 234}], "disease": [{"text": "sporadic", "start": 236, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "MYC mRNA expression was significantly higher in tumors than in non-neoplastic samples.", "output": {"entities": {"gene": [{"text": "MYC", "start": 0, "end": 3}], "disease": [{"text": "non-neoplastic", "start": 63, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In the diabetes-linked region of chromosome 18q12-q21, a candidate gene, deleted in colorectal carcinoma (DCC), was tested for association with human autoimmunity in 3, 380 families with type 1 diabetes, MS, and RA.", "output": {"entities": {"gene": [{"text": "DCC", "start": 106, "end": 109}], "disease": [{"text": "diabetes", "start": 7, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "We have examined the hypothesis that expression of the BRCA2 gene may be suppressed in sporadic breast cancers by a mechanism that is associated with increased methylation of cytosine residues in the promoter region.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 55, "end": 65}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "The frequency of HLA-B (*) 07 (28. 57%) and DRB1 (*) 11 (15. 48%) was increased in the nut-allergic patients compared to the atopic controls (12. 20% and 3. 66%, respectively) but not when compared to the blood donors (28. 86% and 10. 12%).", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 17, "end": 22}], "disease": [{"text": "atopic", "start": 125, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Following TETA treatment, levels of D-amino acid oxidase-1, epoxide hydrolase-1, aquaporin-1, and a number of mitochondrial proteins were normalized, with concomitant amelioration of albuminuria.", "output": {"entities": {"gene": [{"text": "D-amino acid oxidase", "start": 36, "end": 56}], "disease": [{"text": "albuminuria", "start": 183, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Epigenetic modification of RhoE expression in gastric cancer cells.", "output": {"entities": {"gene": [{"text": "RhoE", "start": 27, "end": 31}], "disease": [{"text": "gastric cancer", "start": 46, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Hence, we aimed at identifying any potential association of CHOP 5' UTR-c. 279T > C and + nt30C > T genotypes and corresponding haplotypes with overweight condition/pre-obesity and tumors/cancer in an Italian dataset.", "output": {"entities": {"gene": [{"text": "CHOP", "start": 60, "end": 64}], "disease": [{"text": "overweight", "start": 144, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4B).", "output": {"entities": {"gene": [{"text": "CEACAM16", "start": 13, "end": 21}], "disease": [{"text": "nonsyndromic hearing loss", "start": 47, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CEACAM16", "start": 13, "end": 21}, "tail": {"text": "nonsyndromic hearing loss", "start": 47, "end": 72}}]}}, "schema": []}
{"input": "These findings suggest the possible role of ADM and SEPX1 as biomarkers of schizophrenia.", "output": {"entities": {"gene": [{"text": "SEPX1", "start": 52, "end": 57}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEPX1", "start": 52, "end": 57}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "However, TNF-induced NF-kappaB activation was significantly enhanced in mda-7-transfected cells, as indicated by DNA binding, p65 translocation, and NF-kappaB-dependent reporter gene expression.", "output": {"entities": {"gene": [{"text": "TNF", "start": 9, "end": 12}], "disease": [{"text": "translocation", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "The TWEAK/Fn14 pathway contributed to cell death and interstitial inflammation during acute kidney injury, to glomerular injury in lupus nephritis, to hyperlipidemia-associated kidney injury, and to tubular cell hyperplasia following unilateral nephrectomy.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 4, "end": 9}], "disease": [{"text": "hyperlipidemia", "start": 151, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Human gastric cancer cells were transfected with miR-34 mimics or infected with the lentiviral miR-34-MIF expression system, and validated by miR-34 reporter assay using Bcl-2 3' UTR reporter.", "output": {"entities": {"gene": [{"text": "MIF", "start": 102, "end": 105}], "disease": [{"text": "gastric cancer", "start": 6, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Here we explore the relevance of Cited1 to intestinal tumorigenesis.", "output": {"entities": {"gene": [{"text": "Cited1", "start": 33, "end": 39}], "disease": [{"text": "tumorigenesis", "start": 54, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "In vitro assays, our results indicated that knockdown of SPRY4-IT1 reduced renal cancer cell proliferation, migration, and invasion.", "output": {"entities": {"gene": [{"text": "SPRY4-IT1", "start": 57, "end": 66}], "disease": [{"text": "renal cancer", "start": 75, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Our results were consistent with the hypothesis that BRCA1 and BRCA2 mutations have a limited role in sporadic ovarian carcinogenesis in the Korean population.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 63, "end": 68}], "disease": [{"text": "sporadic", "start": 102, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "We tested the relationship of CD64 with mucosal inflammation and clinical relapse in pediatric Crohn' s disease (CD).", "output": {"entities": {"gene": [{"text": "CD64", "start": 30, "end": 34}], "disease": [{"text": "mucosal inflammation", "start": 40, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Animal studies have shown dopamine transporter protein (DAT1) knock out mice are growth retarded and hyperactive.", "output": {"entities": {"gene": [{"text": "DAT1", "start": 56, "end": 60}], "disease": [{"text": "growth retarded", "start": 81, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the protective effects of hrHGF against neuronal death in the hippocampal CA1 after transient forebrain ischemia could be related to an ERK-dependent pathway.", "output": {"entities": {"gene": [{"text": "CA1", "start": 101, "end": 104}], "disease": [{"text": "ischemia", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "OCT imaging in an asymptomatic 8-year-old individual with the Q293K mutation demonstrated bilateral subfoveal lesions and unilateral serous retinal detachment.", "output": {"entities": {"gene": [{"text": "OCT", "start": 0, "end": 3}], "disease": [{"text": "asymptomatic", "start": 18, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Preclinical evaluation of melanin-concentrating hormone receptor 1 antagonism for the treatment of obesity and depression.", "output": {"entities": {"gene": [{"text": "melanin-concentrating hormone receptor 1", "start": 26, "end": 66}], "disease": [{"text": "depression", "start": 111, "end": 121}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "melanin-concentrating hormone receptor 1", "start": 26, "end": 66}, "tail": {"text": "depression", "start": 111, "end": 121}}]}}, "schema": []}
{"input": "Twenty one cases of apocrine adenosis were stained with monoclonal antibodies to p185, the protein product of the c-erbB2 oncogene, the protein product of the p53 tumour suppressor gene and to the cell cycle related protein Ki67.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 224, "end": 228}], "disease": [{"text": "adenosis", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Associations of TIM1 haplotypes with baseline clinical data (sero-status, plasma viral load, CD4 cell count, and symptomatic AIDS) and survival status during 3 years of follow-up were evaluated.", "output": {"entities": {"gene": [{"text": "TIM1", "start": 16, "end": 20}], "disease": [{"text": "viral load", "start": 81, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).", "output": {"entities": {"gene": [{"text": "CFTR", "start": 16, "end": 20}], "disease": [{"text": "cystic fibrosis", "start": 37, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 16, "end": 20}, "tail": {"text": "cystic fibrosis", "start": 37, "end": 52}}]}}, "schema": []}
{"input": "MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 0, "end": 4}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 53, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 0, "end": 4}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 53, "end": 88}}]}}, "schema": []}
{"input": "A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 26, "end": 31}], "disease": [{"text": "Rett syndrome", "start": 93, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 26, "end": 31}, "tail": {"text": "Rett syndrome", "start": 93, "end": 106}}]}}, "schema": []}
{"input": "Renin is important in blood pressure and volume control and a HindIII restriction fragment length polymorphism (RFLP) is present within the human renin gene locus.", "output": {"entities": {"gene": [{"text": "renin gene", "start": 146, "end": 156}], "disease": [{"text": "blood pressure", "start": 22, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "The CTL line was shown to be phenotypically stable in terms of high levels of cytokine (IFN-gamma, tumor necrosis factor, and granulocyte-macrophage colony-stimulating factor) production, expression of homing-adhesion molecules, ability to lyse peptide-pulsed targets, and ability to lyse human carcinoma cells endogenously expressing CEA in a MHC-restricted manner.", "output": {"entities": {"gene": [{"text": "CEA", "start": 335, "end": 338}], "disease": [{"text": "adhesion", "start": 209, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053).", "output": {"entities": {"gene": [{"text": "MIM", "start": 93, "end": 96}], "disease": [{"text": "autism", "start": 55, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The study was aimed to explore the effects of tumor necrosis factor-& #945; (TNF-& #945;) induced protein 6 (TSG-6) on acute lung injury (ALI) following paraquat exposure in rats.", "output": {"entities": {"gene": [{"text": "TSG-6", "start": 109, "end": 114}], "disease": [{"text": "acute lung injury", "start": 119, "end": 136}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "TSG-6", "start": 109, "end": 114}, "tail": {"text": "acute lung injury", "start": 119, "end": 136}}]}}, "schema": []}
{"input": "With the advent of powerful screening techniques, TTR has also been linked to a number of other pathological conditions, including Parkinson' s disease, schizophrenia, depression, among others.", "output": {"entities": {"gene": [{"text": "TTR", "start": 50, "end": 53}], "disease": [{"text": "depression", "start": 168, "end": 178}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TTR", "start": 50, "end": 53}, "tail": {"text": "depression", "start": 168, "end": 178}}]}}, "schema": []}
{"input": "In order to gain understanding of the cellular mechanisms of malignant transformation in chronic venous leg ulcers, we analysed by immunohistochemistry the presence of p21, p53, bcl-2 and Ki-67 in ulcers with and without squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "p21", "start": 168, "end": 171}], "disease": [{"text": "ulcers", "start": 108, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "There are some indications that a beneficial effect can be found as a less severe course of viral infections among B27-carriers.", "output": {"entities": {"gene": [{"text": "B27", "start": 115, "end": 118}], "disease": [{"text": "viral infections", "start": 92, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "APOBEC3A", "start": 29, "end": 37}], "disease": [{"text": "psychosis", "start": 165, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "APOBEC3A", "start": 29, "end": 37}, "tail": {"text": "psychosis", "start": 165, "end": 174}}]}}, "schema": []}
{"input": "Previous findings replicated among white participants in multivariable adjusted models: the T-allele of rs780094 was associated with lower fasting glucose (p = 10 (-7)) and insulin levels (p = 10 (-6)), lower insulin resistance (HOMA-IR, p = 10 (-9)), less prevalent diabetes (p = 10 (-6)), and higher CRP (p = 10 (-8)), 2-h postprandial glucose (OGTT, p = 10 (-6)), and triglyceride levels (p = 10 (-31)).", "output": {"entities": {"gene": [{"text": "CRP", "start": 302, "end": 305}], "disease": [{"text": "insulin resistance", "start": 209, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Polymorphisms in CARD8 and TIMP2 are proposed to modify the development and/or calcification of pleural thickenings.", "output": {"entities": {"gene": [{"text": "TIMP2", "start": 27, "end": 32}], "disease": [{"text": "calcification", "start": 79, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIMP2", "start": 27, "end": 32}, "tail": {"text": "calcification", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "Immunohistochemistry showed significant increase of GATA-3 expression in the nasal tissue of group B but much lesser than that in group C. IFN-gamma can inhibit the composition of IL-4 and IL-5, and inhibit the airway inflammation with eosinophilic infiltration and the serum levels of total IgE and ovalbumin specific IgE, probably through the mechanism of restraining the Th2 reaction by blockade of GATA-3 expression in the nasal tissue.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 180, "end": 184}], "disease": [{"text": "inflammation", "start": 218, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "In HER-2-negative patients, Ki67 was reduced by 62 and 71% at 2 and 12 weeks, respectively (P < 0. 0001 for both), but HER-2-positive patients showed no significant fall.", "output": {"entities": {"gene": [{"text": "Ki67", "start": 28, "end": 32}], "disease": [{"text": "fall", "start": 165, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in DHFR, resulting in profound enzyme deficiency.", "output": {"entities": {"gene": [{"text": "DHFR", "start": 270, "end": 274}], "disease": [{"text": "pancytopenia", "start": 138, "end": 150}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DHFR", "start": 270, "end": 274}, "tail": {"text": "pancytopenia", "start": 138, "end": 150}}]}}, "schema": []}
{"input": "BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 10, "end": 15}], "disease": [{"text": "breast cancer", "start": 45, "end": 58}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 10, "end": 15}, "tail": {"text": "breast cancer", "start": 45, "end": 58}}]}}, "schema": []}
{"input": "Many sporadic PD patients have a defect in mitochondria respiration, and some of the genes that cause PD are mitochondrial-related (e. g., PINK1, Parkin, DJ1).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 139, "end": 144}], "disease": [{"text": "sporadic", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Coagulation factor VII (FVII) levels in plasma are usually related to ischemic heart disease (IHD) and cerebral infarction shares many of the risk factors related to IHD.", "output": {"entities": {"gene": [{"text": "factor VII", "start": 12, "end": 22}], "disease": [{"text": "ischemic heart disease", "start": 70, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effects of lithium (Li) and prostaglandin A1 (PGA1) on the expression of heat shock factor 1 (HSF-1), heat shock proteins (HSP), and apoptosis protease activating factor-1 (Apaf-1) induced by permanent focal ischemia in rats.", "output": {"entities": {"gene": [{"text": "PGA1", "start": 65, "end": 69}], "disease": [{"text": "shock", "start": 97, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Although the SRC family members are likely to play a role in the response of fibroid SMC to estrogen, via ERalpha, changes in their levels do not appear to contribute to the increased sensitivity of fibroid SMC to estrogen.", "output": {"entities": {"gene": [{"text": "SMC", "start": 85, "end": 88}], "disease": [{"text": "fibroid", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "On fresh leukemic cells taken from 30 patients with acute promyelocytic leukemia (APL) the membrane expression of a series of adhesion molecules including beta 2 integrins (CD11a/LFA-1, CD11b/Mac-1), selectin ligands (CD15/Le (x), CD15s/sLex) and tyrosine-phosphatase isoforms (CD45RA, CD45R0) was analyzed.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 179, "end": 184}], "disease": [{"text": "adhesion", "start": 126, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Transgenic mice expressing either wild-type or inactive ADAR2 isoforms demonstrated adult onset obesity characterized by hyperglycemia, hyperleptinemia, and increased adiposity.", "output": {"entities": {"gene": [{"text": "ADAR2", "start": 56, "end": 61}], "disease": [{"text": "hyperglycemia", "start": 121, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Single nucleotide polymorphisms (SNPs) in the genes encoding interferon response factor (IRF)-5, IRF-8 and glypican-5 (GPC5) have been associated with disease activity in multiple sclerosis (MS) patients treated with interferon (IFN)-β.", "output": {"entities": {"gene": [{"text": "IRF", "start": 89, "end": 92}], "disease": [{"text": "multiple sclerosis", "start": 171, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "We further showed that knockdown of Dnmt1 and restoration of SFRP1 inhibited core-induced in vivo tumor growth and aggressiveness in a xenograft HCC model.", "output": {"entities": {"gene": [{"text": "HCC", "start": 145, "end": 148}], "disease": [{"text": "aggressiveness", "start": 115, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that KIAA1377 and C5orf42 synergistically play a role as susceptibility genes for monomelic amyotrophy.", "output": {"entities": {"gene": [{"text": "KIAA1377", "start": 24, "end": 32}], "disease": [{"text": "monomelic amyotrophy", "start": 101, "end": 121}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIAA1377", "start": 24, "end": 32}, "tail": {"text": "monomelic amyotrophy", "start": 101, "end": 121}}]}}, "schema": []}
{"input": "APOE haplotypes influence bone mineral density in Caucasian males but not females.", "output": {"entities": {"gene": [{"text": "APOE", "start": 0, "end": 4}], "disease": [{"text": "bone mineral density", "start": 26, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The combination of RSV with pharmacological inhibitor of VEGF-B might, therefore, be a promising modality for clinical pancreatic cancer therapy.", "output": {"entities": {"gene": [{"text": "VEGF-B", "start": 57, "end": 63}], "disease": [{"text": "pancreatic cancer", "start": 119, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VEGF-B", "start": 57, "end": 63}, "tail": {"text": "pancreatic cancer", "start": 119, "end": 136}}]}}, "schema": []}
{"input": "MYH7 gene studies revealed the 5533C & gt; T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied.", "output": {"entities": {"gene": [{"text": "MYH7", "start": 0, "end": 4}], "disease": [{"text": "myosin storage myopathy", "start": 75, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH7", "start": 0, "end": 4}, "tail": {"text": "myosin storage myopathy", "start": 75, "end": 98}}]}}, "schema": []}
{"input": "We have previously identified Urokinase Plasminogen Activator Receptor (PLAUR) as an asthma susceptibility gene.", "output": {"entities": {"gene": [{"text": "PLAUR", "start": 72, "end": 77}], "disease": [{"text": "asthma susceptibility", "start": 85, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We examined the sequential expression of hyperplasia, micronucleated cells, ornithine decarboxylase (ODC) activity, polyamine levels, transglutaminase I activity, epidermal growth factor receptor (EGF-R) levels, keratins, gamma-glutamyltranspeptidase (GGT), transforming growth factor-beta 1 (TGF-beta 1), leukoplakia, and carcinomas induced during carcinogenesis.", "output": {"entities": {"gene": [{"text": "ODC", "start": 101, "end": 104}], "disease": [{"text": "leukoplakia", "start": 306, "end": 317}]}, "relations": {}}, "schema": []}
{"input": "A linkage disequilibrium between TNF2 allele and HLA-DR3 was seen, this haplotype was not associated with severity of acute pancreatitis or outcome of septic shock in ASP patients.", "output": {"entities": {"gene": [{"text": "ASP", "start": 167, "end": 170}], "disease": [{"text": "septic shock", "start": 151, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the role of myosin II in glioma motility and invasiveness by examining the effects of two inhibitors of myosin light chain kinase, ML7 and KT5926.", "output": {"entities": {"gene": [{"text": "myosin light chain kinase", "start": 125, "end": 150}], "disease": [{"text": "glioma", "start": 46, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "myosin light chain kinase", "start": 125, "end": 150}, "tail": {"text": "glioma", "start": 46, "end": 52}}]}}, "schema": []}
{"input": "In conclusion, there is a high prevalence, mostly asymptomatic, of cardiac disease (26%) among first-and second-degree family members of patients with NCC.", "output": {"entities": {"gene": [{"text": "NCC", "start": 151, "end": 154}], "disease": [{"text": "asymptomatic", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "When cholestasis was induced in pregnant rats, BVR alpha, SVCT1 and SVCT2 expression in maternal and fetal livers was stimulated, and this was further enhanced by UDCA treatment.", "output": {"entities": {"gene": [{"text": "SVCT2", "start": 68, "end": 73}], "disease": [{"text": "cholestasis", "start": 5, "end": 16}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SVCT2", "start": 68, "end": 73}, "tail": {"text": "cholestasis", "start": 5, "end": 16}}]}}, "schema": []}
{"input": "ACE gene, ATIR gene and inflammation factors including tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), IL-8, IL-10, C reactive protein (CRP), fibrinogen (Fg), fibrin monome polymerized velocity (FMPV), absorbance maximum (A (max)), FMPV/A (max), were measured.", "output": {"entities": {"gene": [{"text": "IL-10", "start": 124, "end": 129}], "disease": [{"text": "fibrinogen", "start": 157, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "No significant differences between familial and sporadic cases were found within the MHC region (including the following loci: HLA-DQ,-DR, heat shock protein (HSP) 70, tumour necrosis factor (TNF), HLA-B and-A).", "output": {"entities": {"gene": [{"text": "TNF", "start": 192, "end": 195}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "While many studies have addressed the atherogenic or anti-atherogenic potential of this polymorphism, little is known about its effect on neurodegeneration, despite the fact that CETP is expressed in the brain and the disturbance of cholesterol homeostasis appears to be an important factor in the pathogenesis of Alzheimer' s disease (AD).", "output": {"entities": {"gene": [{"text": "CETP", "start": 179, "end": 183}], "disease": [{"text": "neurodegeneration", "start": 138, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD.", "output": {"entities": {"gene": [{"text": "CBFA1", "start": 25, "end": 30}], "disease": [{"text": "CCD", "start": 66, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CBFA1", "start": 25, "end": 30}, "tail": {"text": "CCD", "start": 66, "end": 69}}]}}, "schema": []}
{"input": "Metastatic spread of Erbb2-transformed carcinoma cells also required CD4 (+) CD25 (+) T cells, whose major pro-metastatic function was RANKL production.", "output": {"entities": {"gene": [{"text": "CD4", "start": 69, "end": 72}], "disease": [{"text": "carcinoma", "start": 39, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "No association with growth was found with a polymorphism of the PTH receptor gene otherwise found to be associated with adult height.", "output": {"entities": {"gene": [{"text": "PTH receptor", "start": 64, "end": 76}], "disease": [{"text": "height", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "In this report, we present 3 patients from 2 different families displaying very low density lipoprotein receptor-associated pontocerebellar hypoplasia, cortical dysplasia, mental retardation, and bipedal gait.", "output": {"entities": {"gene": [{"text": "very low density lipoprotein receptor", "start": 75, "end": 112}], "disease": [{"text": "cortical dysplasia", "start": 152, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The 4th gene, tyrosinase, has been previously linked to schizophrenia through the cosegregation of oculocutaneous albinism with psychosis in several pedigrees.", "output": {"entities": {"gene": [{"text": "tyrosinase", "start": 14, "end": 24}], "disease": [{"text": "psychosis", "start": 128, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosinase", "start": 14, "end": 24}, "tail": {"text": "psychosis", "start": 128, "end": 137}}]}}, "schema": []}
{"input": "Stratified by gender, the associations of S447X polymorphism with the serum lipids (TG, HDL), blood pressures (SBP, DBP) and their abnormalities were analyzed by univariate and multivariate methods.", "output": {"entities": {"gene": [{"text": "DBP", "start": 116, "end": 119}], "disease": [{"text": "abnormalities", "start": 131, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Detection of TIAM1 expression in tumor samples from 56 OSCC patients and oral mucosa samples from 20 healthy people was performed by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "TIAM1", "start": 13, "end": 18}], "disease": [{"text": "OSCC", "start": 55, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TIAM1", "start": 13, "end": 18}, "tail": {"text": "OSCC", "start": 55, "end": 59}}]}}, "schema": []}
{"input": "Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia.", "output": {"entities": {"gene": [{"text": "nuclear mitotic apparatus protein", "start": 52, "end": 85}], "disease": [{"text": "acute promyelocytic leukaemia", "start": 117, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nuclear mitotic apparatus protein", "start": 52, "end": 85}, "tail": {"text": "acute promyelocytic leukaemia", "start": 117, "end": 146}}]}}, "schema": []}
{"input": "However, atopic asthmatic patients who were homozygous GG for the RANTES-28C > G tended to have lower PC20 methacholine than those carrying the wild genotype.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 66, "end": 72}], "disease": [{"text": "atopic", "start": 9, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "The mutant OX40 protein was poorly expressed on the cell surface and failed to bind OX40L, resulting in complete functional OX40 deficiency.", "output": {"entities": {"gene": [{"text": "OX40", "start": 11, "end": 15}], "disease": [{"text": "OX40 deficiency", "start": 124, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "OX40", "start": 11, "end": 15}, "tail": {"text": "OX40 deficiency", "start": 124, "end": 139}}]}}, "schema": []}
{"input": "The expression of cdc2, cdk2, cyclin B1 and cyclin A polypeptides was detectable in all lines examined, and moderate variation in protein level does not provide evidence for any obvious abnormalities in the cancer cell lines studied.", "output": {"entities": {"gene": [{"text": "cdk2", "start": 24, "end": 28}], "disease": [{"text": "abnormalities", "start": 186, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "The Ewing sarcoma family of tumors (ESFT) is defined by cell surface expression of CD99 and a translocation involving EWS and an ETS partner.", "output": {"entities": {"gene": [{"text": "EWS", "start": 118, "end": 121}], "disease": [{"text": "translocation", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "TRPV1, a well-established member of the TRP family, is implicated in a range of functions including inflammation, painful stimuli sensation, and mechanotransduction.", "output": {"entities": {"gene": [{"text": "TRP", "start": 0, "end": 3}], "disease": [{"text": "inflammation", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "The authors have screened 17 exons of the NF2 gene in 91 sporadic vestibular schwannomas, 2 NF2, and 1 vagal schwannoma.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 42, "end": 50}], "disease": [{"text": "sporadic", "start": 57, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "To conduct a full genome search for genes potentially influencing two related phenotypes: body mass index (BMI, kg/m2) and percent body fat (PBF) from bioelectric impedance in men and women.", "output": {"entities": {"gene": [{"text": "PBF", "start": 141, "end": 144}], "disease": [{"text": "body mass index", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "In the literature, five other patients developed APL after treatment for lymphoma, from a total of 59 patients developing sAPL after treatment for any type of neoplasia.", "output": {"entities": {"gene": [{"text": "sAPL", "start": 122, "end": 126}], "disease": [{"text": "lymphoma", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Fluorescence in situ hybridization analysis with a probe for the NUP98 gene, which is located at chromosome band 11p15, showed that the probe hybridized to both derivative chromosomes 11 and 20 as well as to the remaining normal chromosome 11, indicating that the NUP98 gene was split and involved in this translocation.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 65, "end": 75}], "disease": [{"text": "translocation", "start": 306, "end": 319}]}, "relations": {}}, "schema": []}
{"input": "Treatment of HCMEC with IL-18 increases 1) NF-kappaB DNA binding activity; 2) induces kappaB-driven luciferase activity; 3) induces IL-1beta and TNF-alpha expression via NF-kappaB activation; 4) inhibits antiapoptotic Bcl-2 and Bcl-X (L); 5) up-regulates proapoptotic Fas, Fas-L, and Bcl-X (S) expression; 6) induces fas and Fas-L promoter activities via NF-kappaB activation; 7) activates caspases-8,-3,-9, and BID; 8) induces cytochrome c release into the cytoplasm; 9) inhibits FLIP; and 10) induces HCME cell death by apoptosis as seen by increased annexin V staining and increased levels of mono-and oligonucleosomal fragmented DNA.", "output": {"entities": {"gene": [{"text": "BID", "start": 412, "end": 415}], "disease": [{"text": "mono", "start": 596, "end": 600}]}, "relations": {}}, "schema": []}
{"input": "Studies suggest that long-term therapy reduces the risk of HCC in patients with active disease and again primarily in those with advanced fibrosis or cirrhosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 59, "end": 62}], "disease": [{"text": "fibrosis", "start": 138, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We sought to determine the altered gene expression profile of this category in dilated cardiomyopathy (DCM) patients and relate the altered gene expression with the clinical signs present in our patients, such as ventricular dysfunction and sustained monomorphic ventricular tachycardia (SMVT).", "output": {"entities": {"gene": [{"text": "SMVT", "start": 288, "end": 292}], "disease": [{"text": "ventricular dysfunction", "start": 213, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "Lanoteplase plasma clearance averaged 3 L/h (50 ml/min), whereas the mean plasma clearance of approximately 24 L/h (400 ml/min) for alteplase approaches hepatic blood flow following acute myocardial infarction.", "output": {"entities": {"gene": [{"text": "alteplase", "start": 132, "end": 141}], "disease": [{"text": "myocardial infarction", "start": 188, "end": 209}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "alteplase", "start": 132, "end": 141}, "tail": {"text": "myocardial infarction", "start": 188, "end": 209}}]}}, "schema": []}
{"input": "U2AF1 mutation could also predict shorter time-to-leukemia transformation (TTL) in younger patients (P = 0. 020).", "output": {"entities": {"gene": [{"text": "TTL", "start": 75, "end": 78}], "disease": [{"text": "leukemia", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Further studies in various human cancer tissues using a large sample size and in vitro functional studies as well as clinical comparison research studies would give us a better evaluation of TESTIN' s role and its possible future application in molecular diagnosis and treatment of different cancer types, including head and neck squamous cell carcinoma.", "output": {"entities": {"gene": [{"text": "TESTIN' s", "start": 191, "end": 200}], "disease": [{"text": "head and neck squamous cell carcinoma", "start": 316, "end": 353}]}, "relations": {}}, "schema": []}
{"input": "The expression of human vaspin (serpinA12) is positively correlated to body mass index and insulin sensitivity and increases glucose tolerance in vivo, suggesting a compensatory role in response to diminished insulin signaling in obesity.", "output": {"entities": {"gene": [{"text": "serpinA12", "start": 32, "end": 41}], "disease": [{"text": "body mass index", "start": 71, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Vascular endothelial growth factor (VEGF) is a candidate susceptibility gene to inflammatory bowel disease (IBD), both from a functional as well as genetic perspective.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 36, "end": 40}], "disease": [{"text": "bowel disease", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Features not present in classical HCS were a mild/moderate mental retardation and a respiratory chain complex IV deficiency documented in patient 2.", "output": {"entities": {"gene": [{"text": "HCS", "start": 34, "end": 37}], "disease": [{"text": "mild", "start": 45, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Ninety-nine patients with HS, 182 patients with IS (symptomatic control subjects), and 80 asymptomatic control subjects were genotyped for the ACT polymorphism using polymerase chain reaction amplification.", "output": {"entities": {"gene": [{"text": "ACT", "start": 143, "end": 146}], "disease": [{"text": "asymptomatic", "start": 90, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Therefore, it is possible that the early-onset form of retinal degeneration seen in LCA patients with AIPL1 mutations may be due to a defect in the regulation of cell cycle progression during photoreceptor maturation.", "output": {"entities": {"gene": [{"text": "AIPL1", "start": 102, "end": 107}], "disease": [{"text": "retinal degeneration", "start": 55, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In vitro, TNFα treatment of nasopharyngeal carcinoma HK1 cells was found to induce TNFAIP2 expression, and siRNA-based knockdown of TNFAIP2 dramatically reduced the migration and invasion of nasopharyngeal carcinoma HK1 cells.", "output": {"entities": {"gene": [{"text": "HK1", "start": 53, "end": 56}], "disease": [{"text": "nasopharyngeal carcinoma", "start": 28, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Indoleamine 2, 3-dioxygenase, tryptophan catabolism, and Mycobacterium avium subsp. paratuberculosis: a model for chronic mycobacterial infections.", "output": {"entities": {"gene": [{"text": "Indoleamine 2, 3-dioxygenase", "start": 0, "end": 28}], "disease": [{"text": "mycobacterial infections", "start": 122, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3 & #183; 29, 1 & #183; 47-7 & #183; 37, 5 & #183; 40 & #215; 10 (-3)) and rs3887412 in ABCC1 (3 & #183; 36, 1 & #183; 47-7 & #183; 67, p = 5 & #183; 70 & #215; 10 (-3)).", "output": {"entities": {"gene": [{"text": "ABCC1", "start": 278, "end": 283}], "disease": [{"text": "peripheral neuropathy", "start": 31, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCC1", "start": 278, "end": 283}, "tail": {"text": "peripheral neuropathy", "start": 31, "end": 52}}]}}, "schema": []}
{"input": "Catalase protects cardiomyocyte function in models of type 1 and type 2 diabetes.", "output": {"entities": {"gene": [{"text": "Catalase", "start": 0, "end": 8}], "disease": [{"text": "type 2 diabetes", "start": 65, "end": 80}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Catalase", "start": 0, "end": 8}, "tail": {"text": "type 2 diabetes", "start": 65, "end": 80}}]}}, "schema": []}
{"input": "The variant translocation t (12; 22) (q13; q12) and associated EWS-CHOP fusion transcript are rare.", "output": {"entities": {"gene": [{"text": "EWS", "start": 63, "end": 66}], "disease": [{"text": "translocation", "start": 12, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "UNG2 is also involved in innate immune response against retroviral infections.", "output": {"entities": {"gene": [{"text": "UNG2", "start": 0, "end": 4}], "disease": [{"text": "infections", "start": 67, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The variables included age, gender, CFTR mutations, FEV1% predicted, FVC% predicted, height, weight, Brasfield chest xray score, pancreatic sufficiency status and clinical microbiology results.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 36, "end": 40}], "disease": [{"text": "height", "start": 85, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Importantly, exposure of fibroblasts to stress factors such as acidosis or hypoxia markedly upregulated SLC19A3 in control cells, but failed to elevate SLC19A3 expression in the patient' s fibroblasts.", "output": {"entities": {"gene": [{"text": "SLC19A3", "start": 104, "end": 111}], "disease": [{"text": "acidosis", "start": 63, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "The cytoplasmic cyclin E signal may be attributed, in part, to the presence of truncated low-molecular-weight isoforms of cyclin E. In order to isolate the effect of cyclin E on the appearance of centrosome abnormalities, a U2OS tetracycline-repressible cyclin E cell line that has a normal centrosome profile by default was used.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 16, "end": 24}], "disease": [{"text": "weight", "start": 103, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Dufaston therapy of glandular cystic hyperplasia and zoladex therapy of adenomatous hyperplasia normalized expression of Fas receptor, PCNA, and insulin-like growth factor 1 genes, while the expression of IFN-gamma and IL-6 genes, which was normal in hyperplasia, decreased (p < 0. 05).", "output": {"entities": {"gene": [{"text": "IFN", "start": 205, "end": 208}], "disease": [{"text": "hyperplasia", "start": 37, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS).", "output": {"entities": {"gene": [{"text": "CBS", "start": 209, "end": 212}], "disease": [{"text": "olivopontocerebellar degeneration", "start": 101, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Taken together, these data provide support for an expanded role of SHBG in the pathophysiology of insulin resistance and T2DM.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 67, "end": 71}], "disease": [{"text": "insulin resistance", "start": 98, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Association results in humans indicate pleiotropic effects for SNPs within or surrounding CNTN4 on obesity, lipids and blood pressure traits and for SNPs near IL5RA, TRNT1, CRBN, and LRRN1 on central obesity and blood pressure.", "output": {"entities": {"gene": [{"text": "LRRN1", "start": 183, "end": 188}], "disease": [{"text": "blood pressure", "start": 119, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Supershift assays suggest that this binding is due to AP-1 nuclear factors and that members of the jun family are induced to a greater degree than fos by hypoxia.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 54, "end": 58}], "disease": [{"text": "hypoxia", "start": 154, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "These observations may support a genotype-phenotype correlation in HOS patients with TBX5 mutation.", "output": {"entities": {"gene": [{"text": "TBX5", "start": 85, "end": 89}], "disease": [{"text": "HOS", "start": 67, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX5", "start": 85, "end": 89}, "tail": {"text": "HOS", "start": 67, "end": 70}}]}}, "schema": []}
{"input": "Cyclin A1 mRNA was detectable in 11 of 11 patients with acute myeloid leukemia, three of three patients with acute biphenotypic leukemia, eight of eight patients with myelodysplastic syndrome, 59 of 69 patients with chronic myelogenous leukemia (CML) at diagnosis, 13 of 15 patients with CML in blastic transformation, 10 of 18 patients with chronic lymphocytic leukemia, two of nine patients with essential thrombocythemia, and only two of 10 patients with acute lymphoblastic leukemia (ALL) with both cyclin A1 RT-PCR positive ALL leukemias being undifferentiated relapses.", "output": {"entities": {"gene": [{"text": "cyclin A1", "start": 503, "end": 512}], "disease": [{"text": "essential thrombocythemia", "start": 398, "end": 423}]}, "relations": {}}, "schema": []}
{"input": "AIM: To obtain new insights regarding the expression differences of these factors and their relationship and to investigate the correlation between gender and clinical features in patients with prolactinoma.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "prolactinoma", "start": 194, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "However, among all cases, we found that individuals inheriting a variant NAT1 allele, NAT1 * 10, have a significantly elevated risk for gastric cancer (OR = 2. 2, 95% CI 1.", "output": {"entities": {"gene": [{"text": "NAT1", "start": 73, "end": 77}], "disease": [{"text": "gastric cancer", "start": 136, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "To evaluate main effects and gene-gene interactions of haplotype tagging single nucleotide polymorphisms of genes involved in regulatory T-cell function-IL6, IL6R, IL10, heme-oxygenase 1 (HMOX1), IL2, Toll-like receptor 2 (TLR2), TGFB1, TGF-beta receptor (TGFBR)-1, TGFBR2, IL2RA, and forkhead box protein 3 (FOXP3)-in relation to atopy and asthma.", "output": {"entities": {"gene": [{"text": "HMOX1", "start": 188, "end": 193}], "disease": [{"text": "atopy", "start": 331, "end": 336}]}, "relations": {}}, "schema": []}
{"input": "Our report supports the idea that EPG5-related Vici syndrome is both a neurodevelopmental and neurodegenerative disorder. & #169; 2017 Wiley Periodicals, Inc.", "output": {"entities": {"gene": [{"text": "EPG5", "start": 34, "end": 38}], "disease": [{"text": "Vici syndrome", "start": 47, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EPG5", "start": 34, "end": 38}, "tail": {"text": "Vici syndrome", "start": 47, "end": 60}}]}}, "schema": []}
{"input": "To examine the involvement of DcR3 in the immune evasions of virus-associated lymphoma, we analyzed the amplification and expression of DcR3, using dot blot and in situ hybridization (ISH), in 45 cases, which included 17 cases with Epstein-Barr virus (EBV)-associated lymphoma (seven pyothorax-associated B-cell lymphomas (PAL); ten natural killer lymphoma (NKL)), seven cases with adult T-cell leukemia lymphoma (ATLL), 13 Hodgkin' s disease (eight EBV-associated cases; five non-EBV-associated cases), and eight control cases (three reactive lymphadenopathy; five non-EBV-associated-B-cell lymphoma).", "output": {"entities": {"gene": [{"text": "PAL", "start": 323, "end": 326}], "disease": [{"text": "lymphoma", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "PAR-2 deficiency was found to modulate articular inflammation in murine models of arthritis that require prior immunization and was associated with reduced levels of anti-mBSA IgG and lymph node cell proliferation in AIA.", "output": {"entities": {"gene": [{"text": "PAR", "start": 0, "end": 3}], "disease": [{"text": "arthritis", "start": 82, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "BDGI overexpression inhibits the proliferation, decreases anchorage-dependent growth, and reduces migration of MCF-7 human breast cancer cells, whereas down-regulation of BDGI expression promotes the proliferation of MCF-7 and HeLa cervix epitheloid carcinoma cells.", "output": {"entities": {"gene": [{"text": "BDGI", "start": 0, "end": 4}], "disease": [{"text": "carcinoma", "start": 250, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "Four weeks after an injection of STZ, the renal 11beta-HSD2 and mRNA levels were significantly lower in diabetic rats than in control rats, and the mean systolic blood pressure was 14. 8% higher in diabetic rats than in controls.", "output": {"entities": {"gene": [{"text": "STZ", "start": 33, "end": 36}], "disease": [{"text": "systolic blood pressure", "start": 153, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 64, "end": 70}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 95, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 64, "end": 70}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 95, "end": 125}}]}}, "schema": []}
{"input": "Molecular genetic deletion experiments for the azoospermia factor region in distal Yq11 showed the retention of the DAZ gene and meiotic pairing configurations suggested that the man' s infertility could be due to the pairing behaviour of the Y; 6 translocation chromosome with the X chromosome visualised by synaptonemal complex analysis at the electron microscopy level.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 116, "end": 119}], "disease": [{"text": "infertility", "start": 186, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "PRRT2 mutations account for 61. 5% (8 out of 13) of familial PKD/IC and 33. 3% (5 out of 15) of apparently sporadic PKD/IC in the Taiwanese cohort.", "output": {"entities": {"gene": [{"text": "PRRT2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "SRS children who carry such an epimutation have increased levels of IGF-I and IGFBP-3 in relation to their stature and body weight, suggesting IGF-I resistance.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 68, "end": 73}], "disease": [{"text": "body weight", "start": 119, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We have characterized a novel calpastatin-overexpressing transgenic mouse model, demonstrating a substantial increase in calpastatin expression within nervous system and peripheral tissues and associated reduction in protease activity.", "output": {"entities": {"gene": [{"text": "calpastatin", "start": 30, "end": 41}], "disease": [{"text": "nervous system", "start": 151, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Evolving expression of adhesion molecules and cytokines indicates a shift from Th1 to Th2 immune responses as infection progresses.", "output": {"entities": {"gene": [{"text": "Th1", "start": 79, "end": 82}], "disease": [{"text": "adhesion", "start": 23, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "When we screened for deletions on the Yq of males suffering from infertility, we found that HSFY was involved in interstitial deletions on the Y chromosomes for two azoospermic males who had DBY, USP9Y, and DAZ but did not have RBMY located on the AZFb.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 207, "end": 210}], "disease": [{"text": "infertility", "start": 65, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Results of this year' s investigations further elucidated the genetic associations of tropical pancreatitis, a reversible mislocalization of ductal CFTR in AIP, the association of asymptomatic pancreatic hyperenzymemia with pancreatic disorders, limitations of diagnostic tests for EPI, diagnosis of chronic pancreatitis by EUS and endoscopic pancreatic function testing and treatment of pain.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 148, "end": 152}], "disease": [{"text": "asymptomatic", "start": 180, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "On a standard diet, Mpv17-/-mouse shows hardly any symptom of liver dysfunction, but a ketogenic diet (KD) leads these animals to liver cirrhosis and failure.", "output": {"entities": {"gene": [{"text": "Mpv17", "start": 20, "end": 25}], "disease": [{"text": "liver dysfunction", "start": 62, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Risks for venous thromboembolism in genetically affected persons are substantially higher among patients with coexistent predispositions for thrombosis, such as advanced age, use of oral contraceptives, hyperhomocystinemia, and deficiencies of protein C and protein S. Factor V Leiden mutation does not seem to increase risks for arterial thrombosis.", "output": {"entities": {"gene": [{"text": "protein C", "start": 244, "end": 253}], "disease": [{"text": "hyperhomocystinemia", "start": 203, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "This is the first report of a pedigree in which 4 asymptomatic members carry the E383K substitution in NOD2, as well as the first observation of an asymptomatic carrier state for any of the NOD2 \" Blau mutations. \"", "output": {"entities": {"gene": [{"text": "NOD2", "start": 103, "end": 107}], "disease": [{"text": "asymptomatic", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Affected individuals presented with muscle weakness and/or paresthesia and showed hypocalcemia, hyperphosphatemia, and elevated serum PTH.", "output": {"entities": {"gene": [{"text": "PTH", "start": 134, "end": 137}], "disease": [{"text": "paresthesia", "start": 59, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The loss of active Pin1 leads to the accumulation of abnormal tau and the overproduction of β-amyloid, the cardinal features of Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "Pin1", "start": 19, "end": 23}], "disease": [{"text": "amyloid", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Sequencing of the human lumican and fibromodulin genes has excluded them as candidate genes for MYP3 associated high grade myopia.", "output": {"entities": {"gene": [{"text": "fibromodulin", "start": 36, "end": 48}], "disease": [{"text": "myopia", "start": 123, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of the NF-kappaB signaling pathway significantly attenuated the increases in IkappaBalpha and bdnf mRNA levels that occurred during prolonged seizure activity, suggesting that the NF-kappaB pathway was involved in the up-regulation of these transcripts during status epilepticus.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 18, "end": 27}], "disease": [{"text": "status epilepticus", "start": 271, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "Irrespective of PCOS, variant alleles of TLR2 S450S increased triglycerides, fasting insulin levels, and insulin resistance in obese women.", "output": {"entities": {"gene": [{"text": "TLR2", "start": 41, "end": 45}], "disease": [{"text": "insulin resistance", "start": 105, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Simpson-Golabi-Behmel (SGB) syndrome is an X-linked condition with pre-and postnatal overgrowth, characteristic facies, and visceral and skeletal anomalies.", "output": {"entities": {"gene": [{"text": "SGB", "start": 23, "end": 26}], "disease": [{"text": "facies", "start": 112, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Four days after 2', 3'-dideoxycytidine administration, rats had developed thermal allodynia as well as mechanical hyperalgesia and allodynia, which dose-dependently decreased after epidural injection of MDL 11, 939, a 5-HT2A receptor antagonist.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 218, "end": 224}], "disease": [{"text": "mechanical hyperalgesia", "start": 103, "end": 126}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2A", "start": 218, "end": 224}, "tail": {"text": "mechanical hyperalgesia", "start": 103, "end": 126}}]}}, "schema": []}
{"input": "Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants.", "output": {"entities": {"gene": [{"text": "ERCC4", "start": 50, "end": 55}], "disease": [{"text": "oropharyngeal cancer", "start": 15, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "GRPR-KO mice were found to present with increased depression-like behavior.", "output": {"entities": {"gene": [{"text": "GRPR", "start": 0, "end": 4}], "disease": [{"text": "depression", "start": 50, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRPR", "start": 0, "end": 4}, "tail": {"text": "depression", "start": 50, "end": 60}}]}}, "schema": []}
{"input": "Furthermore, we observed an interesting correlation between Na (+), K (+)-ATPase activity and mood that may relate to both unipolar depression and bipolar disorder.", "output": {"entities": {"gene": [{"text": "ATPase", "start": 74, "end": 80}], "disease": [{"text": "bipolar disorder", "start": 147, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATPase", "start": 74, "end": 80}, "tail": {"text": "bipolar disorder", "start": 147, "end": 163}}]}}, "schema": []}
{"input": "And in consideration of the key role of B10 cells play in maintaining peripheral tolerance, we conjectured that a deficit of these cells could contribute to the autoimmunity in patients with Wiskott-Aldrich syndrome (WAS).", "output": {"entities": {"gene": [{"text": "B10", "start": 40, "end": 43}], "disease": [{"text": "autoimmunity", "start": 161, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 77, "end": 82}], "disease": [{"text": "Pfeiffer syndrome", "start": 0, "end": 17}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 77, "end": 82}, "tail": {"text": "Pfeiffer syndrome", "start": 0, "end": 17}}]}}, "schema": []}
{"input": "Indeed, the three loci (FGGY, ITPR2 and DPP6) identified in previous GWAS of sporadic ALS were not significantly associated with disease in our study.", "output": {"entities": {"gene": [{"text": "FGGY", "start": 24, "end": 28}], "disease": [{"text": "sporadic", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "HLA-DQ alpha and HLA-DX alpha gene polymorphisms were analyzed by Southern blot techniques in 78 Caucasoid insulin-dependent diabetes mellitus (IDDM) subjects and 55 control subjects.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 24, "end": 34}], "disease": [{"text": "insulin-dependent diabetes mellitus", "start": 107, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene.", "output": {"entities": {"gene": [{"text": "VPS33B", "start": 148, "end": 154}], "disease": [{"text": "ARC) syndrome", "start": 46, "end": 59}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VPS33B", "start": 148, "end": 154}, "tail": {"text": "ARC) syndrome", "start": 46, "end": 59}}]}}, "schema": []}
{"input": "ERM samples were obtained by vitrectomy from 22 cases with PDR aged 56 +/-11 years with 18 +/-10 years of diabetes and 15 cases with idiopathic ERM.", "output": {"entities": {"gene": [{"text": "ERM", "start": 0, "end": 3}], "disease": [{"text": "diabetes", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Despite the mutant TLR-4 predisposition for UC pancolitis, smoking was associated with more limited disease (P < 0. 001).", "output": {"entities": {"gene": [{"text": "TLR-4", "start": 19, "end": 24}], "disease": [{"text": "smoking", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "CIG was intragastrically administered daily after EAE initiation for 20days and reduced disease severity, incidence, disease onset and ongoing paralysis.", "output": {"entities": {"gene": [{"text": "CIG", "start": 0, "end": 3}], "disease": [{"text": "paralysis", "start": 143, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "The findings of this study show that copper, hydrogen peroxide, and lipid peroxides accumulate to drastically high levels in LEC rat serum in acute hepatitis but not chronic hepatitis.", "output": {"entities": {"gene": [{"text": "LEC", "start": 125, "end": 128}], "disease": [{"text": "acute hepatitis", "start": 142, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "We found synergistic and cumulative effects between specific genotype patterns and smoking in determining the risk of CAD, especially between PAI-1 (4G5G + 5G5G) + IL-6 (CC) and smoking (SIM = 4. 18 and p = 0. 0005, OR = 9. 20, respectively).", "output": {"entities": {"gene": [{"text": "IL-6", "start": 164, "end": 168}], "disease": [{"text": "smoking", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.", "output": {"entities": {"gene": [{"text": "PXR", "start": 8, "end": 11}], "disease": [{"text": "obesity", "start": 108, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PXR", "start": 8, "end": 11}, "tail": {"text": "obesity", "start": 108, "end": 115}}]}}, "schema": []}
{"input": "The natural history of hereditary and BRCA1-and BRCA2-associated epithelial ovarian cancer may differ from that of sporadic disease.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 48, "end": 53}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Ten genes [macrophage inhibitory cytokine-1, CGD, fibronectin (FN), hypoxia-inducible factor 1, Fc-epsilon-receptor gamma-chain, lactate dehydrogenase A, HLA-DBP1, AH receptor, tissue inhibitor of metalloproteinase (TIMP-1), and glycyl-tRNA-synthetase] were found to be up-regulated > 2-fold in 40-100% of cancers, whereas 9 genes (GADD153, polykystic kidney disease-1, CYR61, DPC4, HBA1, gravin, DLG3, protein tyrosine phosphatase sigma, and heterochromatin protein 1 homologue-alpha) were down-regulated to < 50% of their normal levels in 40-94% of cases.", "output": {"entities": {"gene": [{"text": "HBA1", "start": 383, "end": 387}], "disease": [{"text": "cancers", "start": 306, "end": 313}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that a major cause of high c-Jun abundance in invasive breast cancer cells is prolonged c-Jun protein stability owing to poor poly-ubiquitination of c-Jun.", "output": {"entities": {"gene": [{"text": "c-Jun", "start": 48, "end": 53}], "disease": [{"text": "invasive breast cancer", "start": 67, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Over-excretion of angiotensin I converting enzyme (ACE) and aldosterone is reported to stimulate intimal hyperplasia and the genetic effect of these molecules may alter the process of in-stent restenosis.", "output": {"entities": {"gene": [{"text": "ACE", "start": 51, "end": 54}], "disease": [{"text": "intimal hyperplasia", "start": 97, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "A comparison of the laboratory features of JAK2 V617-positive and JAK2 wild-type ET patients clearly showed that JAK2 V617-positive ET is characterized by higher values for hemoglobin, hematocrit, and neutrophil counts; lower values for serum erythropoietin (EPO) levels, serum ferritin, and mean corpuscular volume; and by increased cellularity of the bone marrow in biopsy material.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 43, "end": 47}], "disease": [{"text": "hemoglobin", "start": 173, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Protective role of Mincle in bacterial pneumonia by regulation of neutrophil mediated phagocytosis and extracellular trap formation.", "output": {"entities": {"gene": [{"text": "Mincle", "start": 19, "end": 25}], "disease": [{"text": "bacterial pneumonia", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The aims of this study were 1) to evaluate whether the duration of obesity is a risk factor for type 2 DM, HT and HL, 2) to determine the incidence of impaired fasting glucose (IFG), impaired glucose tolerance (IGT), type 2 DM, HT and HL in the patients attending our clinic because of obesity and 3) to determine the correlation between DM, HT and HL and age, body mass index (BMI), duration of obesity and waist-hip ratio (WHR).", "output": {"entities": {"gene": [{"text": "IFG", "start": 177, "end": 180}], "disease": [{"text": "body mass index", "start": 361, "end": 376}]}, "relations": {}}, "schema": []}
{"input": "Also, when we compare the FEP patients after risperidone treatment with controls, this difference remains significant, and no significant differences were observed in GCH1 mRNA levels when comparing patients before and after risperidone treatment.", "output": {"entities": {"gene": [{"text": "GCH1", "start": 167, "end": 171}], "disease": [{"text": "FEP", "start": 26, "end": 29}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GCH1", "start": 167, "end": 171}, "tail": {"text": "FEP", "start": 26, "end": 29}}]}}, "schema": []}
{"input": "Thrombophilic risk factors analyzed were hyperhomocysteinemia, MTHFR gene mutation, factor V Leiden mutation, protein C and S deficiency, antithrombin deficiency, prothrombin gene mutation, anticardiolipin antibodies and lupus anticoagulant.", "output": {"entities": {"gene": [{"text": "MTHFR gene", "start": 63, "end": 73}], "disease": [{"text": "lupus anticoagulant", "start": 221, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.", "output": {"entities": {"gene": [{"text": "rhodopsin", "start": 75, "end": 84}], "disease": [{"text": "Retinitis punctata albescens", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "rhodopsin", "start": 75, "end": 84}, "tail": {"text": "Retinitis punctata albescens", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "We hypothesize that LR11 loss may be specific to sporadic AD and influence amyloid pathology through mechanisms independent of substrate-enzyme interactions regulated by FAD mutations.", "output": {"entities": {"gene": [{"text": "FAD", "start": 170, "end": 173}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphisms.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 80, "end": 84}], "disease": [{"text": "smoking", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Expression and mechanism of PinX1 and telomerase activity in the carcinogenesis of esophageal epithelial cells.", "output": {"entities": {"gene": [{"text": "PinX1", "start": 28, "end": 33}], "disease": [{"text": "esophageal", "start": 83, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P & #8202; & lt; & #8202; 0. 005).", "output": {"entities": {"gene": [{"text": "VCAM1", "start": 73, "end": 78}], "disease": [{"text": "dermatitis", "start": 129, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VCAM1", "start": 73, "end": 78}, "tail": {"text": "dermatitis", "start": 129, "end": 139}}]}}, "schema": []}
{"input": "Overexpression of cyclin E in breast tumors is associated with a poor response to tamoxifen therapy, greater genomic instability, more aggressive behavior, and a poor clinical prognosis.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 18, "end": 26}], "disease": [{"text": "genomic instability", "start": 109, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Basic and clinical research has demonstrated that dementia of sporadic Alzheimer' s disease (sAD) type is associated with dysfunction of the insulin-receptor (IR) system followed by decreased glucose transport via glucose transporter GLUT4 and decreased glucose metabolism in brain cells.", "output": {"entities": {"gene": [{"text": "GLUT4", "start": 234, "end": 239}], "disease": [{"text": "dementia", "start": 50, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GLUT4", "start": 234, "end": 239}, "tail": {"text": "dementia", "start": 50, "end": 58}}]}}, "schema": []}
{"input": "Our work provides a new insight that BACE1 overexpression not only promotes neuritic plaque formation but may also potentiate neurodegeneration mediated by SET elevation in Alzheimer-associated dementia in DS.", "output": {"entities": {"gene": [{"text": "SET", "start": 156, "end": 159}], "disease": [{"text": "neuritic plaque", "start": 76, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "CSNK1e had previously been implicated in the regulation of developmental pathways and circadian rhythms, whereas our data provide a previously unknown link with oncogenic MYC.", "output": {"entities": {"gene": [{"text": "MYC", "start": 171, "end": 174}], "disease": [{"text": "circadian rhythms", "start": 86, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous.", "output": {"entities": {"gene": [{"text": "COX", "start": 22, "end": 25}], "disease": [{"text": "neuromuscular disorders", "start": 80, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "ET-1-induced MIP-1β promoter luciferase activity was attenuated when any of the five hypoxia-response elements, AP-1, or NF-κB binding motifs in the proximal MIP-1β promoter (-1053/+ 43 bp) were mutated.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 112, "end": 116}], "disease": [{"text": "hypoxia", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The tumor cells of malignant histiocytosis generally expressed the monocyte markers CD11b, CD11c, CD14, and CD45, especially after induction with phorbol ester.", "output": {"entities": {"gene": [{"text": "CD11b", "start": 84, "end": 89}], "disease": [{"text": "malignant histiocytosis", "start": 19, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We looked at 4 patients with severe and unusual infections in whom MBP gene mutations were the only identified cause of immunodeficiency and one patient with combined MBP and IgA deficiency.", "output": {"entities": {"gene": [{"text": "MBP", "start": 67, "end": 70}], "disease": [{"text": "immunodeficiency", "start": 120, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.", "output": {"entities": {"gene": [{"text": "desmoplakin", "start": 132, "end": 143}], "disease": [{"text": "Severe dermatitis, multiple allergies, and metabolic wasting syndrome", "start": 0, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "desmoplakin", "start": 132, "end": 143}, "tail": {"text": "Severe dermatitis, multiple allergies, and metabolic wasting syndrome", "start": 0, "end": 69}}]}}, "schema": []}
{"input": "Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.", "output": {"entities": {"gene": [{"text": "GNAS", "start": 116, "end": 120}], "disease": [{"text": "pseudohypoparathyroidism type Ia", "start": 43, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAS", "start": 116, "end": 120}, "tail": {"text": "pseudohypoparathyroidism type Ia", "start": 43, "end": 75}}]}}, "schema": []}
{"input": "Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.", "output": {"entities": {"gene": [{"text": "TKT", "start": 13, "end": 16}], "disease": [{"text": "Short Stature, Developmental Delay, and Congenital Heart Defects", "start": 55, "end": 119}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TKT", "start": 13, "end": 16}, "tail": {"text": "Short Stature, Developmental Delay, and Congenital Heart Defects", "start": 55, "end": 119}}]}}, "schema": []}
{"input": "Protein C, protein S, antithrombin, D-dimer, fibrinogen, homocysteine, anticardiolipin antibodies (aCL), lupus anticoagulant (LAC), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation were evaluated.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 194, "end": 199}], "disease": [{"text": "lupus anticoagulant", "start": 105, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "HCS, a relatively mild syndrome, is characterised by cystinuria type I, generalised hypotonia at birth, growth retardation and minor facial dysmorphic features.", "output": {"entities": {"gene": [{"text": "HCS", "start": 0, "end": 3}], "disease": [{"text": "mild", "start": 18, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that TLR2 expression might be involved in sporadic colorectal carcinogenesis, whereas TLR4 is not.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 106, "end": 110}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The potential role of transcription factor aryl hydrocarbon receptor in downregulation of hepatic cytochrome P-450 during sepsis.", "output": {"entities": {"gene": [{"text": "aryl hydrocarbon receptor", "start": 43, "end": 68}], "disease": [{"text": "sepsis", "start": 122, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "On electron microscopy, thickness of the glomerular basement membrane (BGM) was found to distinguish benign familial hematuria (BFH-10 cases) from non familial idiopathic recurrent hematuria (IRH-9 cases).", "output": {"entities": {"gene": [{"text": "BGM", "start": 71, "end": 74}], "disease": [{"text": "benign familial hematuria", "start": 101, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "TRIM37del2 was also found in normal ovary but in a proportion of sporadic fibrothecomas, the TRIM37del2: TRIM37 ratio was increased.", "output": {"entities": {"gene": [{"text": "TRIM37", "start": 0, "end": 6}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Anti-inflammation treatment restored p21 expression, delayed tumorigenesis, and increased survival of Tgfbr2 (fspKO) mice.", "output": {"entities": {"gene": [{"text": "Tgfbr2", "start": 102, "end": 108}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "SH2B3 (LNK) mutations from myeloproliferative neoplasms patients have mild loss of function against wild type JAK2 and JAK2 V617F.", "output": {"entities": {"gene": [{"text": "LNK", "start": 7, "end": 10}], "disease": [{"text": "mild", "start": 70, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Apart from HLA-DQA1 * 0201, which was less common in patients with colonic carcinoma than controls, no other HLA-DQA1 and no HLA-DQB1 allele were present at altered frequency in patients with gastric or colonic cancer.", "output": {"entities": {"gene": [{"text": "HLA-DQB1", "start": 125, "end": 133}], "disease": [{"text": "colonic cancer", "start": 203, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "We used a PCR/silver stain method to determine whether triplet-repeat instability (TRI) was present in DNA from malignant breast tumors, and analyzed microsatellite instability (MSI) in triplets SCA1, SCA2, SCA3, SCA6, HD, DRPLA and X25-GAA.", "output": {"entities": {"gene": [{"text": "GAA", "start": 237, "end": 240}], "disease": [{"text": "microsatellite instability", "start": 150, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The intriguing finding was that the HCC in the patient was positively stained for chromogranin A (CgA), a cellular marker for endocrine and neuroendocrine tumors.", "output": {"entities": {"gene": [{"text": "HCC", "start": 36, "end": 39}], "disease": [{"text": "neuroendocrine tumors", "start": 140, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Results of the study are compatible with the majority of previous studies that indicate little or no association of NAT2, smoking, or their interaction with the occurrence of breast cancer.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 116, "end": 120}], "disease": [{"text": "smoking", "start": 122, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Together, these observations prompted us to investigate whether dopamine can regulate PIMT expression in SH-SY5Y neuroblastoma cells.", "output": {"entities": {"gene": [{"text": "PIMT", "start": 86, "end": 90}], "disease": [{"text": "neuroblastoma", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Quantitative MRI measurements indicated that this correlation is based on the diffuse nature of the heterotopic nodules rather than on the total volume of abnormal heterotopic tissue.", "output": {"entities": {"gene": [{"text": "MRI", "start": 13, "end": 16}], "disease": [{"text": "heterotopic tissue", "start": 164, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "Two SAGE cDNA libraries were constructed, one using a pool of mRNA obtained from five GH-secreting pituitary tumors and another from three normal pituitaries.", "output": {"entities": {"gene": [{"text": "SAGE", "start": 4, "end": 8}], "disease": [{"text": "pituitary tumors", "start": 99, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "However, the role of IRG1 in tumorigenesis remains unclear.", "output": {"entities": {"gene": [{"text": "IRG1", "start": 21, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 29, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Among ACL antibody positive recurrent miscarriage patients, significantly more were positive for the HLA-DR3 phenotype and negative for the HLA-DR2 phenotypes compared with healthy controls (P < 0. 05).", "output": {"entities": {"gene": [{"text": "ACL", "start": 6, "end": 9}], "disease": [{"text": "recurrent miscarriage", "start": 28, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest an indirect pathway for Bcl-2 over-expression in PhIP-induced colon tumors involving beta-catenin, c-Myc and E2F1.", "output": {"entities": {"gene": [{"text": "Bcl-2", "start": 47, "end": 52}], "disease": [{"text": "colon tumors", "start": 85, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bcl-2", "start": 47, "end": 52}, "tail": {"text": "colon tumors", "start": 85, "end": 97}}]}}, "schema": []}
{"input": "Increasing evidence supports a link between expressions of CD4, CD25, Foxp3, and CXCL13 in thymic hyperplasia with myasthenia gravis (MG) patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 59, "end": 62}], "disease": [{"text": "thymic hyperplasia", "start": 91, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The new ARID genes include nine with loss-of-function mutations (ABI2, MAPK8, MPDZ, PIDD1, SLAIN1, TBC1D23, TRAPPC6B, UBA7 and USP44), and missense mutations include the first reports of variants in BDNF or TET1 associated with ID.", "output": {"entities": {"gene": [{"text": "TBC1D23", "start": 99, "end": 106}], "disease": [{"text": "ID", "start": 10, "end": 12}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TBC1D23", "start": 99, "end": 106}, "tail": {"text": "ID", "start": 10, "end": 12}}]}}, "schema": []}
{"input": "The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, dystonia, and spasticity, but little evidence of cerebellar disease.", "output": {"entities": {"gene": [{"text": "ADCA", "start": 59, "end": 63}], "disease": [{"text": "dystonia", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients.", "output": {"entities": {"gene": [{"text": "SLC7A9", "start": 14, "end": 20}], "disease": [{"text": "cystinuria", "start": 94, "end": 104}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC7A9", "start": 14, "end": 20}, "tail": {"text": "cystinuria", "start": 94, "end": 104}}]}}, "schema": []}
{"input": "Nucleobindin 2 (NUCB2) has been reported to play an important role in both tumorigenesis and cancer progression.", "output": {"entities": {"gene": [{"text": "NUCB2", "start": 16, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The present study examined GAT-1-immunolabeling in infant rats with two types of developmental seizures, one induced by corticotropin-releasing hormone (CRH) lasting about 2 h and the other by hyperthermia (a model of febrile seizures) lasting only 20 min.", "output": {"entities": {"gene": [{"text": "GAT", "start": 27, "end": 30}], "disease": [{"text": "seizures", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "We therefore further compared the antithrombotic (Benefit: dose required for 50% inhibition of fibrinogen decrease: ED50) and hemorrhagic (Risk: minimum dose required for significant prolongation of bleeding time) effects of MR-33 and LMW-heparin in the thromboplastin-induced DIC model.", "output": {"entities": {"gene": [{"text": "thromboplastin", "start": 254, "end": 268}], "disease": [{"text": "DIC", "start": 277, "end": 280}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "thromboplastin", "start": 254, "end": 268}, "tail": {"text": "DIC", "start": 277, "end": 280}}]}}, "schema": []}
{"input": "Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently discovered primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3-and TLR4-interferon (IFN)-alpha/beta pathways.", "output": {"entities": {"gene": [{"text": "IFN", "start": 221, "end": 224}], "disease": [{"text": "primary immunodeficiency", "start": 99, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Loss of H19 imprinting in esophageal cancer.", "output": {"entities": {"gene": [{"text": "H19", "start": 8, "end": 11}], "disease": [{"text": "esophageal cancer", "start": 26, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) +/-mice develop a number of different cancers, including prostate cancer.", "output": {"entities": {"gene": [{"text": "tensin", "start": 16, "end": 22}], "disease": [{"text": "cancers", "start": 103, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "In searching for androgen-responsive genes in human prostate cancer cells, we have isolated two cDNAs that encode alternate forms of a novel Src homology 3 domain-containing guanine nucleotide exchange factor (SGEF).", "output": {"entities": {"gene": [{"text": "SGEF", "start": 210, "end": 214}], "disease": [{"text": "prostate cancer", "start": 52, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Aurora-A kinase (Aur-A) is a member of the serine/threonine kinase family that regulates the cell division process, and has recently been implicated in tumorigenesis.", "output": {"entities": {"gene": [{"text": "Aurora-A kinase", "start": 0, "end": 15}], "disease": [{"text": "tumorigenesis", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "In addition, DJ-1 knockdown resulted in the decreased proliferation, adhesion and invasion of HepG2 cells in vitro, and inhibited the growth of HepG2-induced tumor in vivo.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 13, "end": 17}], "disease": [{"text": "adhesion", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The sum score (in tertiles) and an IGF1 19-CA repeat polymorphism (19/19, 19/non-19 and non-19/non-19 repeats) in combination with body size (mostly in tertiles) and (non-) occupational physical activity (> 12, 8-12 and < 8 kJ/min in the job and > 90, > 60-90, > 30-60 and ≤ 30 min/day) were analyzed by Cox regression.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 35, "end": 39}], "disease": [{"text": "regression", "start": 308, "end": 318}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that there was a significant decrease in glandular expression of ANXA1 in ductal carcinoma in situ and invasive ductal carcinoma compared with either normal breast tissue or hyperplasia (P <. 0001).", "output": {"entities": {"gene": [{"text": "ANXA1", "start": 84, "end": 89}], "disease": [{"text": "hyperplasia", "start": 193, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "We analyzed genetic, cognitive and social behavior in a unique individual with WS features (heart defects, small size, facies), but with an atypical deletion of a set of genes that includes GTF2IRD1, but not GTF2I.", "output": {"entities": {"gene": [{"text": "GTF2IRD1", "start": 190, "end": 198}], "disease": [{"text": "facies", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "This study examines the persistence and fitness of multidrug-resistant (MDR) viruses acquired during primary human immunodeficiency virus infection (PHI).", "output": {"entities": {"gene": [{"text": "PHI", "start": 149, "end": 152}], "disease": [{"text": "human immunodeficiency virus infection", "start": 109, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to investigate whether an experimental link could be made between the ability of a novel fibroblast growth factor 2 (FGF2) gene formulation to promote neovascularization, and its ability to restore myocardial function.", "output": {"entities": {"gene": [{"text": "FGF2", "start": 147, "end": 151}], "disease": [{"text": "neovascularization", "start": 181, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "In particular, the presence of helminth infection coincident with malaria profoundly alters the production of malaria-specific IFN-γ, IL-12p70, CXCL9, CXCL10 and CXCL11, cytokines/chemokines known to be critical in mediating malaria-specific immunity.", "output": {"entities": {"gene": [{"text": "IFN", "start": 127, "end": 130}], "disease": [{"text": "helminth infection", "start": 31, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "L-type Ca2 + channels in Ca2 + channelopathies.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 7, "end": 10}], "disease": [{"text": "channelopathies", "start": 31, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Mechanisms postulated to link folate and B12 metabolism with cancer, including genome-wide hypomethylation, gene-specific promoter hypermethylation, and DNA uracil misincorporation, have been observed in prostate tumor cells.", "output": {"entities": {"gene": [{"text": "B12", "start": 41, "end": 44}], "disease": [{"text": "cancer", "start": 61, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Under dietary high fat loading, Agtrap (-/-) mice displayed systemic metabolic dysfunction, characterized by an increased accumulation of pad fat, hypertension, dyslipidemia, and insulin resistance, along with adipose tissue inflammation.", "output": {"entities": {"gene": [{"text": "Agtrap", "start": 32, "end": 38}], "disease": [{"text": "inflammation", "start": 225, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide evidence that GPR109A is a target for the drug Fumaderm and suggest that niacin should be investigated to treat psoriasis in addition to its role in treating lipid disorders.", "output": {"entities": {"gene": [{"text": "GPR109A", "start": 35, "end": 42}], "disease": [{"text": "psoriasis", "start": 133, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPR109A", "start": 35, "end": 42}, "tail": {"text": "psoriasis", "start": 133, "end": 142}}]}}, "schema": []}
{"input": "CSP-C is not expressed in B-lymphoblastoid cell lines or in the T-leukemia cell line MOLT4.", "output": {"entities": {"gene": [{"text": "CSP-C", "start": 0, "end": 5}], "disease": [{"text": "leukemia", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Exercise-induced HGF production was inversely related to peak VO2 (r =-0. 664, p < 0. 01) and positively related to levels of brain natriuretic peptide (BNP), a biochemical marker for post-infarction ventricular remodeling (r = 0. 686, p < 0. 01).", "output": {"entities": {"gene": [{"text": "HGF", "start": 17, "end": 20}], "disease": [{"text": "ventricular remodeling", "start": 200, "end": 222}]}, "relations": {}}, "schema": []}
{"input": "Collectively, these data suggest that the cAMP/Rap1B/B-Raf pathway modulates the expression of p27 and the cytoplasmic mislocalization of p27-cyclin D1 in tuberous sclerosis gene-regulated-renal cancer.", "output": {"entities": {"gene": [{"text": "Rap1B", "start": 47, "end": 52}], "disease": [{"text": "renal cancer", "start": 189, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The 4th gene, tyrosinase, has been previously linked to schizophrenia through the cosegregation of oculocutaneous albinism with psychosis in several pedigrees.", "output": {"entities": {"gene": [{"text": "tyrosinase", "start": 14, "end": 24}], "disease": [{"text": "psychosis", "start": 128, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosinase", "start": 14, "end": 24}, "tail": {"text": "psychosis", "start": 128, "end": 137}}]}}, "schema": []}
{"input": "No noticeable toxicity concerning AAV was detected as inferred from monitoring changes in animal body weight as well as basic organ structure and histological morphology, and by analyzing mouse liver and kidney function.", "output": {"entities": {"gene": [{"text": "AAV", "start": 34, "end": 37}], "disease": [{"text": "body weight", "start": 97, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "Expression of the zebrafish Smoa1-EGFP itself did not lead to tumor formation either in founder fish or subsequent generations, however, co-expressing a constitutively active human AKT1 resulted in several tumor types, including spindle cell sarcoma, rhabdomyoma, ocular melanoma, astrocytoma, and myxoma.", "output": {"entities": {"gene": [{"text": "AKT1", "start": 181, "end": 185}], "disease": [{"text": "rhabdomyoma", "start": 251, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "We used tissue derived from patients with invasive cervical cancer (ICC) (n = 111, composed of two histologic groups: squamous cell carcinoma (n = 67) and adenocarcinoma (n = 44)), cervical intraepithelial neoplasia (CIN) III (n = 101), and non-cancer controls (NCC, n = 98).", "output": {"entities": {"gene": [{"text": "NCC", "start": 262, "end": 265}], "disease": [{"text": "invasive cervical cancer", "start": 42, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "On multivariate analysis, endothelium-dependent dilation was inversely related to age (r =-0. 33, P < 0. 001), vessel size (r =-0. 41, P < 0. 001) but not ACE genotype (r = 0. 002, P = 0. 97).", "output": {"entities": {"gene": [{"text": "ACE", "start": 155, "end": 158}], "disease": [{"text": "dilation", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Paeonia suffruticosa Andrews (PSA) pretreatment suppressed SBC formation in the 3D skin model, and erythema formation and pigmentation in volunteers exposed to UVB irradiation.", "output": {"entities": {"gene": [{"text": "PSA", "start": 30, "end": 33}], "disease": [{"text": "pigmentation", "start": 122, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "As Mitf is implicated in control of proliferation, we have explored the possibility that inducing Mitf expression via lipid-mediated activation of the p38 stress-signalling pathway may represent a re-pigmentation strategy.", "output": {"entities": {"gene": [{"text": "p38", "start": 151, "end": 154}], "disease": [{"text": "pigmentation", "start": 200, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "We also suggested the potential value of AC9 as a biomarker in the clinical diagnosis and treatment of leukemia.", "output": {"entities": {"gene": [{"text": "AC9", "start": 41, "end": 44}], "disease": [{"text": "leukemia", "start": 103, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "CCAT2 is a lung adenocarcinoma-specific long non-coding RNA and promotes invasion of non-small cell lung cancer.", "output": {"entities": {"gene": [{"text": "CCAT2", "start": 0, "end": 5}], "disease": [{"text": "non-small cell lung cancer", "start": 85, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "We assessed the contribution of AANAT gene variability to susceptibility to MD considering common and rare genetic variations through a sequential sequencing and single nucleotide polymorphism (SNP)-based genotyping approach in a sample of 445 unrelated patients with MD (257 unipolar MD, 188 bipolar depression) and 440 community-based screened control subjects.", "output": {"entities": {"gene": [{"text": "AANAT", "start": 32, "end": 37}], "disease": [{"text": "bipolar depression", "start": 293, "end": 311}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AANAT", "start": 32, "end": 37}, "tail": {"text": "bipolar depression", "start": 293, "end": 311}}]}}, "schema": []}
{"input": "Spinal K252a treatment did not alter hypersensitivity from spinal nerve ligation (SNL), but blocked the SNL-associated increase in dopamine-β-hydroxylase (DβH) fiber density in the spinal cord dorsal horn while reducing spinal choline acetyltransferase (ChAT)-immunoreactivity.", "output": {"entities": {"gene": [{"text": "SNL", "start": 82, "end": 85}], "disease": [{"text": "hypersensitivity", "start": 37, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "This study highlights differences both in PBGD gene mutations causing AIP and in SNPs between white and black peoples; the allele frequencies provided contribute to a better knowledge of the variability of these markers among the major population groups, especially in sub-Saharan West African and Afro-Caribbean populations.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 42, "end": 46}], "disease": [{"text": "AIP", "start": 70, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 42, "end": 46}, "tail": {"text": "AIP", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "In 14 cases (34%), allelic imbalance was detected in chronic hepatitis or cirrhosis without HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 92, "end": 95}], "disease": [{"text": "chronic hepatitis", "start": 53, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "The EWS/FLI-1 fusion gene, resulting from a t (11; 22) translocation, plays a key role in the pathogenesis of Ewing' s sarcoma.", "output": {"entities": {"gene": [{"text": "EWS", "start": 4, "end": 7}], "disease": [{"text": "translocation", "start": 55, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We also performed the following blood tests: hemacytometric analysis including platelet count, prothrombin time, activated partial thromboplastin time, fibrinogen, erythrocyte sedimentation rate, C-reactive protein, protein S, protein C, antithrombin III, and activated protein C resistance.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 238, "end": 254}], "disease": [{"text": "fibrinogen", "start": 152, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The lymphokine profile of immunocompromised patients with recurrent HCV infection or rejection does not differ principally from that of patients with HCV-induced hepatitis and cirrhosis, but seems to show a TH1 profile significantly more often.", "output": {"entities": {"gene": [{"text": "TH1", "start": 207, "end": 210}], "disease": [{"text": "cirrhosis", "start": 176, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "MST1 functions as a key modulator of neurodegeneration in a mouse model of ALS.", "output": {"entities": {"gene": [{"text": "MST1", "start": 0, "end": 4}], "disease": [{"text": "neurodegeneration", "start": 37, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "High frequency of CD4 + CXCR5 + TFH cells in patients with immune-active chronic hepatitis B.", "output": {"entities": {"gene": [{"text": "CD4", "start": 18, "end": 21}], "disease": [{"text": "active chronic hepatitis", "start": 66, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Since cytokines are believed to be involved in this process, the aim of this study was to investigate possible changes in the mRNA and protein expression of pro-inflammatory cytokines (interleukin (IL)-1alpha, IL-1beta, IL-12, IL-18) and anti-inflammatory cytokines (IL-4, IL-10, IL-13) in the human cervix during pregnancy, term and preterm labor.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 267, "end": 271}], "disease": [{"text": "preterm labor", "start": 334, "end": 347}]}, "relations": {}}, "schema": []}
{"input": "The distribution of TGIF in leiomyoma and myometrial tissues by immunohistochemistry stain, mRNA, and protein expression levels by real-time quantitative polymerase chain-reaction (QPCR) and Western blot.", "output": {"entities": {"gene": [{"text": "TGIF", "start": 20, "end": 24}], "disease": [{"text": "leiomyoma", "start": 28, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Rasburicase is a recombinant urate oxidase that is produced by a genetically modified Saccharomyces cerevisiae and has been approved for prophylaxis and treatment of tumor lysis syndrome in 2001.", "output": {"entities": {"gene": [{"text": "urate oxidase", "start": 29, "end": 42}], "disease": [{"text": "tumor lysis syndrome", "start": 166, "end": 186}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "urate oxidase", "start": 29, "end": 42}, "tail": {"text": "tumor lysis syndrome", "start": 166, "end": 186}}]}}, "schema": []}
{"input": "DNA2 knockdowns are deficient in HDR (homology-directed repair) and the S phase checkpoint and exhibit genome instability and sensitivity to agents that cause replication stress.", "output": {"entities": {"gene": [{"text": "DNA2", "start": 0, "end": 4}], "disease": [{"text": "genome instability", "start": 103, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the HLA-DQB1 gene is involved in the pathogenesis of human dilated cardiomyopathy.", "output": {"entities": {"gene": [{"text": "HLA-DQB1 gene", "start": 31, "end": 44}], "disease": [{"text": "cardiomyopathy", "start": 94, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In contrast, several single nucleotide polymorphisms in CRP were significantly associated with plasma C-reactive protein levels but had no relation with coronary artery calcification.", "output": {"entities": {"gene": [{"text": "CRP", "start": 56, "end": 59}], "disease": [{"text": "coronary artery calcification", "start": 153, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that Ccl-2 protein serves to integrate mechanical and endocrine signals contributing to uterine inflammation and the induction of labor and thus may represent a novel target for therapeutic prevention of preterm labor in humans.", "output": {"entities": {"gene": [{"text": "Ccl-2", "start": 25, "end": 30}], "disease": [{"text": "preterm labor", "start": 224, "end": 237}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Ccl-2", "start": 25, "end": 30}, "tail": {"text": "preterm labor", "start": 224, "end": 237}}]}}, "schema": []}
{"input": "The PR isoforms positively correlated with the mRNA levels of HER/ErbB receptors and ligands associated with a more differentiated phenotype (HER3, HER4, EGF, AREG, NRG3 and NRG4) while they correlated negatively with those associated with aggressiveness (EGFR, TGFa, HB-EGF, EREG, and NRG2).", "output": {"entities": {"gene": [{"text": "NRG4", "start": 174, "end": 178}], "disease": [{"text": "aggressiveness", "start": 240, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.", "output": {"entities": {"gene": [{"text": "HFE", "start": 0, "end": 3}], "disease": [{"text": "infant birthweight", "start": 74, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HFE", "start": 0, "end": 3}, "tail": {"text": "infant birthweight", "start": 74, "end": 92}}]}}, "schema": []}
{"input": "We investigated the expression of heat shock protein 70 (Hsp70), nuclear factor of activated T cells 5 (NFAT5), and hypoxia-induced factor-1α (HIF-1α) in the placentas of normal and preeclamptic pregnancies and in human placental hypoxia models in vitro to examine the regulatory mechanisms of placental Hsp70 expression.", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 57, "end": 62}], "disease": [{"text": "hypoxia", "start": 116, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "The effects of ES (0. 3-0. 5 mA) or the central administration of corticotropin-releasing factor (CRF; astressin, 10 microg/kg) or cholecystokinin (CCKB; 20 microg/kg) receptor antagonists and peripheral glucocorticoid receptor (RU-486; 10 mg/kg) or ganglion (hexamethonium; 15 mg/kg) blockers on TNBS-induced colitis were studied by the assessment of macroscopic score, histological analysis and tissue myeloperoxidase activity.", "output": {"entities": {"gene": [{"text": "glucocorticoid receptor", "start": 204, "end": 227}], "disease": [{"text": "ganglion", "start": 250, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Our findings further support that LRRK1 would cause a subset of OSMD cases.", "output": {"entities": {"gene": [{"text": "LRRK1", "start": 34, "end": 39}], "disease": [{"text": "OSMD", "start": 64, "end": 68}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRRK1", "start": 34, "end": 39}, "tail": {"text": "OSMD", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "GABBR2 is a genetic factor that determines RTT-or EE-like phenotype expression depending on the variant positions.", "output": {"entities": {"gene": [{"text": "GABBR2", "start": 0, "end": 6}], "disease": [{"text": "EE", "start": 50, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GABBR2", "start": 0, "end": 6}, "tail": {"text": "EE", "start": 50, "end": 52}}]}}, "schema": []}
{"input": "Both the simple obesity and the normal-weight group had the Ala55Val variants of Ala/Ala, Val/Val and Ala/Val in the UCP2 gene, and the Ala55Val genotype distributions between the two groups was significantly different (chi2 = 11. 97, P < 0. 05).", "output": {"entities": {"gene": [{"text": "UCP2 gene", "start": 117, "end": 126}], "disease": [{"text": "weight", "start": 39, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "In addition, there was also no significant difference in the nm23-H1/NDP kinase staining intensity of primary and metastatic lymph node lesions of tumors with lymph node metastases.", "output": {"entities": {"gene": [{"text": "NDP", "start": 69, "end": 72}], "disease": [{"text": "lymph node metastases", "start": 159, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "Upregulated mRNAs included heme oxygenase 1 (HO1), 8-oxoguanine DNA glycosylase 1 (OGG1), glutathione reductase (GSR), cyclin-dependent kinase inhibitor 1A (CDKN1 [p21 (waf1)]) and Mn + superoxide dismutase precursor (SOD2); while cytochrome P450 1A1 (CYP1A1) and heat shock 70kD protein 1 (HSPA1A) were downregulated.", "output": {"entities": {"gene": [{"text": "glutathione reductase", "start": 90, "end": 111}], "disease": [{"text": "shock", "start": 269, "end": 274}]}, "relations": {}}, "schema": []}
{"input": "The aim of the study is to determine whether serum concentrations of interleukin (IL)-1and IL-6 correlate with indices of bone mineral metabolism in children with idiopathic osteoporosis and osteopenia.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 91, "end": 95}], "disease": [{"text": "idiopathic osteoporosis", "start": 163, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "MED1 mutations have been associated with microsatellite instability and accelerated colorectal cancer (CRC) tumorigenesis.", "output": {"entities": {"gene": [{"text": "MED1", "start": 0, "end": 4}], "disease": [{"text": "tumorigenesis", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Intravitreal administration of either species of PEDF significantly inhibited retinal neovascularization (83% for PEDF A and 55% for PEDF B; P = 0. 024 and 0. 0026, respectively).", "output": {"entities": {"gene": [{"text": "PEDF", "start": 49, "end": 53}], "disease": [{"text": "retinal neovascularization", "start": 78, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer.", "output": {"entities": {"gene": [{"text": "MASPIN", "start": 90, "end": 96}], "disease": [{"text": "breast cancer", "start": 152, "end": 165}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MASPIN", "start": 90, "end": 96}, "tail": {"text": "breast cancer", "start": 152, "end": 165}}]}}, "schema": []}
{"input": "A recent genome-wide association study in Caucasians revealed that three loci (rs174547 in fatty acid desaturase 1 (FADS1), rs2338104 near mevalonate kinase/methylmalonic aciduria, cobalamin deficiency, cblB type (MVK/MMAB) and rs10468017 near hepatic lipase (LIPC)) influence the plasma concentrations of high-density lipoprotein-cholesterol (HDL-C) and triglycerides (TG).", "output": {"entities": {"gene": [{"text": "LIPC", "start": 260, "end": 264}], "disease": [{"text": "cobalamin deficiency", "start": 181, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Additional studies will examine whether glyoxalase-I has an impact beyond that of a biomarker to predict the genetic predisposition to anxiety-and depression-like behavior.", "output": {"entities": {"gene": [{"text": "glyoxalase-I", "start": 40, "end": 52}], "disease": [{"text": "depression", "start": 147, "end": 157}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "glyoxalase-I", "start": 40, "end": 52}, "tail": {"text": "depression", "start": 147, "end": 157}}]}}, "schema": []}
{"input": "By 1 year most Spnb3 (-/-) animals develop a myoclonic seizure disorder with significant reductions of EAAT4, EAAT1, GluRdelta, IP3R, and NCAM140.", "output": {"entities": {"gene": [{"text": "IP3R", "start": 128, "end": 132}], "disease": [{"text": "myoclonic seizure disorder", "start": 45, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemistry verified that infection with CNHK500-p53 was associated with selective replication of adenovirus and production of p53 protein in telomerase-positive and hypoxia-inducible factor-dependent HCC cells.", "output": {"entities": {"gene": [{"text": "HCC", "start": 210, "end": 213}], "disease": [{"text": "adenovirus", "start": 107, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "SGK1 transcript levels were differentially increased by differentiation or hypoxia (treatment with CoCl (2)).", "output": {"entities": {"gene": [{"text": "SGK1", "start": 0, "end": 4}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "However, the role of RALT in cardiac hypertrophy remains unclear.", "output": {"entities": {"gene": [{"text": "RALT", "start": 21, "end": 25}], "disease": [{"text": "cardiac hypertrophy", "start": 29, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "The VHL tumor suppressor gene (TSG) at 3p25-26 is strongly implicated in the pathogenesis of clear cell renal cell carcinoma (cRCC).", "output": {"entities": {"gene": [{"text": "TSG", "start": 31, "end": 34}], "disease": [{"text": "clear cell renal cell carcinoma", "start": 93, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Southern analysis and long distance PCR confirmed BCL3/IgH Calpha translocation in one case.", "output": {"entities": {"gene": [{"text": "BCL3", "start": 50, "end": 54}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Based on these clinical and molecular findings, we propose the association of PPP1R12A pathogenic variants with a congenital malformations syndrome affecting the embryogenesis of the brain and genitourinary systems and including disorders of sex development.", "output": {"entities": {"gene": [{"text": "PPP1R12A", "start": 78, "end": 86}], "disease": [{"text": "disorders of sex development", "start": 229, "end": 257}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPP1R12A", "start": 78, "end": 86}, "tail": {"text": "disorders of sex development", "start": 229, "end": 257}}]}}, "schema": []}
{"input": "This study was carried out to investigate the impact of IL-2 deficiency on the neuroendocrine system in normal colon, and the neuroendocrine changes during colonic inflammation.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 56, "end": 60}], "disease": [{"text": "inflammation", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "BACKGROUND: Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population.", "output": {"entities": {"gene": [{"text": "Golgb1", "start": 130, "end": 136}], "disease": [{"text": "hemorrhagic stroke", "start": 198, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "Here we report that SERPINB13, a gene downregulated in head and neck cancers, is a novel RUNX1transcriptional target.", "output": {"entities": {"gene": [{"text": "SERPINB13", "start": 20, "end": 29}], "disease": [{"text": "cancers", "start": 69, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "KIT expression may represent a potential diagnostic pitfall in the evaluation of YWHAE-NUTM2A/B endometrial stromal sarcoma presenting with pelvic/abdominal mass, particularly in situations where its uterine origin is not definitive, and thus a panel of antibodies that includes ANO1 and cyclin D1 is necessary.", "output": {"entities": {"gene": [{"text": "cyclin D1", "start": 288, "end": 297}], "disease": [{"text": "abdominal mass", "start": 147, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46, XX, der (17) t (5; 17) (p13. 1; p13. 3) mat chromosome complement.", "output": {"entities": {"gene": [{"text": "p13", "start": 405, "end": 408}], "disease": [{"text": "pectus excavatum", "start": 283, "end": 299}]}, "relations": {}}, "schema": []}
{"input": "Ferrochelatase-deficient (fch/fch) mice are an animal model for human EPP.", "output": {"entities": {"gene": [{"text": "Ferrochelatase", "start": 0, "end": 14}], "disease": [{"text": "EPP", "start": 70, "end": 73}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Ferrochelatase", "start": 0, "end": 14}, "tail": {"text": "EPP", "start": 70, "end": 73}}]}}, "schema": []}
{"input": "Thus, priming conditions of leukemia-specific CD4 T cells critically determines the balance between immunity or tolerance toward leukemia.", "output": {"entities": {"gene": [{"text": "CD4", "start": 46, "end": 49}], "disease": [{"text": "leukemia", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "We demonstrate that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease.", "output": {"entities": {"gene": [{"text": "TGFBR2", "start": 174, "end": 180}], "disease": [{"text": "food allergy", "start": 254, "end": 266}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, INI-1, a partner gene for ALL-1, is considered to be highly conserved in acute leukemia cases.", "output": {"entities": {"gene": [{"text": "INI", "start": 15, "end": 18}], "disease": [{"text": "acute leukemia", "start": 88, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We demonstrated that hypoxia and reoxygenation did not alter APP mRNA and protein level, However compared to those of controls, BACE1 mRNA levels were up-regulated by 31. 5% (P = 0. 028) and 35. 1% (P = 0. 005) at 12h and 24h and the protein levels increased to 22% (P = 0. 021), 42% (P = 0. 000) and 51. 5% (P = 0. 000) at 0h, 12h and 24h after reoxygenation, respectively.", "output": {"entities": {"gene": [{"text": "APP", "start": 61, "end": 64}], "disease": [{"text": "hypoxia", "start": 21, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Three clones, with Bak protein levels similar to those seen in colon cancer cell lines and significantly lower than those found in the parental cells, were further evaluated.", "output": {"entities": {"gene": [{"text": "Bak", "start": 19, "end": 22}], "disease": [{"text": "colon cancer", "start": 63, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Bak", "start": 19, "end": 22}, "tail": {"text": "colon cancer", "start": 63, "end": 75}}]}}, "schema": []}
{"input": "Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.", "output": {"entities": {"gene": [{"text": "KCNQ1", "start": 32, "end": 37}], "disease": [{"text": "long QT syndrome 1", "start": 63, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNQ1", "start": 32, "end": 37}, "tail": {"text": "long QT syndrome 1", "start": 63, "end": 81}}]}}, "schema": []}
{"input": "These studies showed that, like in the mouse, human PAP7 is highly expressed in steroidogenic tissues, where it follows the pattern of PRKAR1A expression, suggesting that it participates in PRKAR1A-mediated tumorigenesis and hypercortisolism.", "output": {"entities": {"gene": [{"text": "PAP7", "start": 52, "end": 56}], "disease": [{"text": "hypercortisolism", "start": 225, "end": 241}]}, "relations": {}}, "schema": []}
{"input": "Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 47, "end": 53}], "disease": [{"text": "variable expressivity", "start": 142, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Since there is no information on expression of PI3K isoforms in oral cancer, we studied the expression of different isoforms of PI3K (p110α, p110γ, PI3K-C2, Vps34p and p85α) in tumor samples and PBMC by RT and q-RTPCR and serum levels of PI3K p110α by SPR and ELISA techniques in 108 patients with tobacco-related oral squamous cell carcinoma (OSCC) and 46 normal subjects.", "output": {"entities": {"gene": [{"text": "SPR", "start": 252, "end": 255}], "disease": [{"text": "squamous cell carcinoma", "start": 319, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "Moreover, the relationship among hypoxia, histone acetylation disorder, low lncRNA-LET expression level, and metastasis was found in clinical hepatocellular carcinoma samples.", "output": {"entities": {"gene": [{"text": "lncRNA-LET", "start": 76, "end": 86}], "disease": [{"text": "hepatocellular carcinoma", "start": 142, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Combined allelic loss of both BRCA1 and BRCA2 gene was seen in 12 of the 17 (71%) informative hereditary tumours, whereas copy number losses of both BRCA genes was seen in only 4/14 (29%) sporadic control tumours studied by FISH.", "output": {"entities": {"gene": [{"text": "BRCA2 gene", "start": 40, "end": 50}], "disease": [{"text": "sporadic", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "In summary, our data shows that USP44 is epigenetically inactivated in colorectal adenomas, but this alone is not sufficient to cause aneuploidy in colorectal neoplasia.", "output": {"entities": {"gene": [{"text": "USP44", "start": 32, "end": 37}], "disease": [{"text": "aneuploidy", "start": 134, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "In vivo treatment of insulin-resistant high-fat diet (HFD)-fed C57BL/6 mice with CFE (200 mg/kg/d) for 6 weeks considerably reduced insulin resistance, glucose intolerance, plasma triacylglycerol, non-esterified fatty acids (NEFA) and LDL/VLDL cholesterol.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 225, "end": 229}], "disease": [{"text": "insulin resistance", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, we show that ANKRD11 restores a native conformation to the mutant p53 protein and causes dissociation of the mutant p53-p63 complex.", "output": {"entities": {"gene": [{"text": "p63", "start": 137, "end": 140}], "disease": [{"text": "dissociation", "start": 106, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best' s disease).", "output": {"entities": {"gene": [{"text": "VMD2", "start": 27, "end": 31}], "disease": [{"text": "Best' s disease", "start": 126, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 27, "end": 31}, "tail": {"text": "Best' s disease", "start": 126, "end": 141}}]}}, "schema": []}
{"input": "These data suggest that hypoxic environments upregulate the IL-8 gene via cooperation of NF-kappaB and AP-1 and contribute to the progression and metastasis of human pancreatic cancer.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 103, "end": 107}], "disease": [{"text": "hypoxic", "start": 24, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that a deficient Th17 pathway suppresses the accumulation of IFN-γ producing cells in liver during the early phase of cholangitis.", "output": {"entities": {"gene": [{"text": "IFN", "start": 79, "end": 82}], "disease": [{"text": "cholangitis", "start": 136, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "3) the view that the very properties of accumulating anergic self-reactive CD5 + B lymphocytes may provide a bridge between autoimmunity and immune incompetence.", "output": {"entities": {"gene": [{"text": "CD5", "start": 75, "end": 78}], "disease": [{"text": "autoimmunity", "start": 124, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "NNK upregulated ERK1/2 phosphorylation, stimulated expression of the gene encoding the tumor-promoter HGF, downregulated expression of the tumor suppressor gene CDKN2A, and induced tumorigenic transformation of MCF10A cells.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 16, "end": 20}], "disease": [{"text": "tumorigenic transformation", "start": 181, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In fact, AAV-BDNF-treated rats displayed plantar, weight-supported hindlimb stepping on a stationary platform, that is, without the assistance of a moving treadmill and without step training.", "output": {"entities": {"gene": [{"text": "AAV", "start": 9, "end": 12}], "disease": [{"text": "weight", "start": 50, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In 1989, van Schaftingen has reported decreased D-glycerate kinase activity in the liver of a single patient with D-glyceric aciduria.", "output": {"entities": {"gene": [{"text": "glycerate kinase", "start": 50, "end": 66}], "disease": [{"text": "D-glyceric aciduria", "start": 114, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "glycerate kinase", "start": 50, "end": 66}, "tail": {"text": "D-glyceric aciduria", "start": 114, "end": 133}}]}}, "schema": []}
{"input": "The more prominent neurological signs observed in FAD may be explained by more severe neurodegeneration than are found in sporadic cases.", "output": {"entities": {"gene": [{"text": "FAD", "start": 50, "end": 53}], "disease": [{"text": "sporadic", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the interaction between Nedd4-2 and ENaC may play a crucial role in Na + homeostasis and blood pressure (BP) regulation.", "output": {"entities": {"gene": [{"text": "Nedd4-2", "start": 51, "end": 58}], "disease": [{"text": "blood pressure", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "HER-2/neu overexpression and/or gene amplification occurs in several human malignancies, frequently correlates with tumor aggressiveness, and provides the basis for treatment with trastuzumab.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 0, "end": 9}], "disease": [{"text": "aggressiveness", "start": 122, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, sequence analysis of the DENND1A gene of patients with PCOS did not identify alterations that alone could be responsible for the PCOS pathogenesis, but a missense SNP (rs189947178) was identified in one patient and significantly more carriers of rs189947178 were found among patients with PCOS and moderate hirsutism vs. controls.", "output": {"entities": {"gene": [{"text": "DENND1A gene", "start": 40, "end": 52}], "disease": [{"text": "hirsutism", "start": 322, "end": 331}]}, "relations": {}}, "schema": []}
{"input": "Corticosterone produced dose-dependent increases in depression-like behavior and decreases in reelin expression, neurogenesis, and cell maturation regardless of mouse genotype.", "output": {"entities": {"gene": [{"text": "reelin", "start": 94, "end": 100}], "disease": [{"text": "depression", "start": 52, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "reelin", "start": 94, "end": 100}, "tail": {"text": "depression", "start": 52, "end": 62}}]}}, "schema": []}
{"input": "Analysis of filtered gene expression data using Ingenuity Pathways Analysis (Ingenuity Systems, http://www. ingenuity. com) revealed that a number of genes pertaining to neuronal plasticity (RhoA, Rac1, Cdc42, BDNF, and Trk), neurodegeneration (Caspase3, Calpain 1, Bax, a Cytochrome c, and Smac/Diablo), and inflammation/immune-response pathways (TNF-alpha, CCL2, Cox2) were modulated in a temporal fashion after KA treatment.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 359, "end": 363}], "disease": [{"text": "neurodegeneration", "start": 226, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Although the association between the common allelic variation of apolipoprotein E (APOE), fracture risk, bone loss and bone mineral density (BMD) has been examined in several studies, the results of these investigations are contradictory.", "output": {"entities": {"gene": [{"text": "APOE", "start": 83, "end": 87}], "disease": [{"text": "bone mineral density", "start": 119, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These results demonstrate a new mechanism whereby p38alpha negatively regulates cell proliferation by antagonizing the JNK-c-Jun pathway in multiple cell types and in liver cancer development.", "output": {"entities": {"gene": [{"text": "p38alpha", "start": 50, "end": 58}], "disease": [{"text": "liver cancer", "start": 167, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p38alpha", "start": 50, "end": 58}, "tail": {"text": "liver cancer", "start": 167, "end": 179}}]}}, "schema": []}
{"input": "Acute cystitis demonstrated the most robust changes (P </= 0. 005; IL-1beta, 330-fold increase; IL-2, 20-fold increase; IL-4, 8-fold increase; IL-6, 80-fold increase) in cytokine mRNA expression and TNF-alpha or TNF-beta mRNA were only increased (2-10-fold) after acute cystitis.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 143, "end": 147}], "disease": [{"text": "acute cystitis", "start": 264, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "To determine whether other mutations occur in the NBFs of CFTR, we determined the nucleotide sequences of exons 9, 10, 11 and 12 (encoding the first NBF) and exons 20, 21 and 22 (encoding most of the second NBF) from 20 Caucasian and 18 American-black CF patients.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 58, "end": 62}], "disease": [{"text": "CF", "start": 58, "end": 60}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 58, "end": 62}, "tail": {"text": "CF", "start": 58, "end": 60}}]}}, "schema": []}
{"input": "Morphologically, HDGF-siRNA-treated tumors exhibited markedly reduced blood vessel formation and increased necrosis, whereas the Ki67 labeling indices were similar in tumors treated with controls.", "output": {"entities": {"gene": [{"text": "HDGF", "start": 17, "end": 21}], "disease": [{"text": "necrosis", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Comparative analysis of the NF2, TP53, PTEN, KRAS, NRAS and HRAS genes in sporadic and radiation-induced human meningiomas.", "output": {"entities": {"gene": [{"text": "TP53", "start": 33, "end": 37}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Recently, Branson and coworkers reported a strong association between binge-eating disorder (BED) and variants in the melanocortin-4 receptor gene (MC4R).", "output": {"entities": {"gene": [{"text": "MC4R", "start": 148, "end": 152}], "disease": [{"text": "binge-eating disorder", "start": 70, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "In cultured vascular smooth muscle cells, Ang II promotes translocation of Atox1 to the nucleus, thereby increasing SOD3 transcription by binding to Atox1-responsive element in the SOD3 promoter.", "output": {"entities": {"gene": [{"text": "Atox1", "start": 75, "end": 80}], "disease": [{"text": "translocation", "start": 58, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Using an atypical microdeletion, which does not encompass PLP1, we implicate a novel gene GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.", "output": {"entities": {"gene": [{"text": "GLRA4", "start": 90, "end": 95}], "disease": [{"text": "behavioral problems", "start": 133, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Statistical analysis showed that high HET/SAF-B expression in these tumors was associated with low S-phase fraction and with aneuploidy, consistent with our results from transfection experiments in tissue culture cells.", "output": {"entities": {"gene": [{"text": "HET", "start": 38, "end": 41}], "disease": [{"text": "aneuploidy", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "The effects of the polymorphisms in OSAHS group on body mass index (BMI), neck circumference (NC), waist/hip rate (WHR), apnea-hypopnea index (AHI), systolic blood pressure (SBP), diastolic blood pressure (DBP) were analyzed.", "output": {"entities": {"gene": [{"text": "DBP", "start": 206, "end": 209}], "disease": [{"text": "systolic blood pressure", "start": 149, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "To investigate its functional importance in colorectal cancer, HCT-15 and LoVo colon cancer cells were depleted of NEDD4 by small interfering RNA.", "output": {"entities": {"gene": [{"text": "NEDD4", "start": 115, "end": 120}], "disease": [{"text": "colon cancer", "start": 79, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "It is further hypothesized that MC2R blockade should allow using lower glucocorticoid doses to treat congenital adrenal hyperplasia (CAH) due to enzyme deficiency of either 21-hydroxylase (CYP21B) or 11-hydroxylase (CYP11B1), thus reaching a better final adult height than with current therapeutic strategies.", "output": {"entities": {"gene": [{"text": "MC2R", "start": 32, "end": 36}], "disease": [{"text": "height", "start": 261, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Several lines of evidence in both human and animal studies suggest that variation in neuropeptide Y (NPY) or its receptor genes (NPY1R, NPY2R and NPY5R) is associated with alcohol dependence as well as alcohol withdrawal symptoms.", "output": {"entities": {"gene": [{"text": "NPY5R", "start": 146, "end": 151}], "disease": [{"text": "alcohol dependence", "start": 172, "end": 190}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY5R", "start": 146, "end": 151}, "tail": {"text": "alcohol dependence", "start": 172, "end": 190}}]}}, "schema": []}
{"input": "Postmortem brain studies have shown that HDAC1-a lysine deacetylase with broad activity against histones and nonhistone proteins-is frequently expressed at increased levels in prefrontal cortex (PFC) of subjects diagnosed with schizophrenia and related disease.", "output": {"entities": {"gene": [{"text": "HDAC1", "start": 41, "end": 46}], "disease": [{"text": "schizophrenia", "start": 227, "end": 240}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC1", "start": 41, "end": 46}, "tail": {"text": "schizophrenia", "start": 227, "end": 240}}]}}, "schema": []}
{"input": "Six genes were identified as of interest for a follow-up, based on the strength of the association and based on the interest as potential candidate target for developing new treatment for depression: Solute Carrier Family 4 Member 10 (SLC4A10), Dipeptidyl Peptidase IV (DPP4), Dopamine Receptor D3 (DRD3), Zinc Finger Protein 80 (ZNF80), Nitric Oxide Synthase 2A (NOS2A) and Peroxisome Proliferator-Activated Receptor-Gamma, Coactivator 1, Alpha (PPARGC1A).", "output": {"entities": {"gene": [{"text": "NOS2A", "start": 364, "end": 369}], "disease": [{"text": "depression", "start": 188, "end": 198}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2A", "start": 364, "end": 369}, "tail": {"text": "depression", "start": 188, "end": 198}}]}}, "schema": []}
{"input": "Human and murine Jak2 transcripts are expressed at similar levels, and mice develop modest increases in hemoglobin and platelet levels reminiscent of human JAK2 V617F-positive essential thrombocythemia.", "output": {"entities": {"gene": [{"text": "Jak2", "start": 17, "end": 21}], "disease": [{"text": "hemoglobin", "start": 104, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 57, "end": 82}], "disease": [{"text": "acute intermittent porphyria", "start": 105, "end": 133}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 57, "end": 82}, "tail": {"text": "acute intermittent porphyria", "start": 105, "end": 133}}]}}, "schema": []}
{"input": "Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.", "output": {"entities": {"gene": [{"text": "leptin receptor", "start": 11, "end": 26}], "disease": [{"text": "uniparental disomy", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "TNF-alpha treatment led to a strong translocation of p65 and p50, whereas pretreatment with IL-10 followed by TNF-alpha blocked p65 translocation but did not alter the strong translocation of p50.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 0, "end": 9}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "We validated this technique with T cell lines and peripheral blood mononuclear cells (PBMCs) from ADA-deficient patients that showed severely reduced levels of ADA expression (ADA-dull) by FACS and Western blot analyses.", "output": {"entities": {"gene": [{"text": "ADA", "start": 98, "end": 101}], "disease": [{"text": "dull", "start": 180, "end": 184}]}, "relations": {}}, "schema": []}
{"input": "The CCND1 c. 870G & gt; A polymorphism is a risk factor for t (11; 14) (q13; q32) multiple myeloma.", "output": {"entities": {"gene": [{"text": "CCND1", "start": 4, "end": 9}], "disease": [{"text": "multiple myeloma", "start": 82, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CCND1", "start": 4, "end": 9}, "tail": {"text": "multiple myeloma", "start": 82, "end": 98}}]}}, "schema": []}
{"input": "Genes that are connected to adhesion and inflammation: E-selectin, ICAM-1 integrins, glycoprotein IIb, IL-2, IL-4, IL-1b, and transforming growth factor-beta (TGF-beta).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 109, "end": 113}], "disease": [{"text": "inflammation", "start": 41, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Overexpressed HIF-1 alpha and VEGF RNA quickly decreased to the normal level in the scar regions at 7 to 10 d after the occurrence of ischemic colitis.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 30, "end": 34}], "disease": [{"text": "scar", "start": 84, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "This study found that MAC was not required for immune mediated demyelination; but that MAC enhanced early symptoms and early demyelination in EAN, either by direct lysis or by sub-lytic induction of vascular endothelial expression of ICAM-1 and P-selectin.", "output": {"entities": {"gene": [{"text": "P-selectin", "start": 245, "end": 255}], "disease": [{"text": "demyelination", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Akt/protein kinase B and ERK1/2, two protein kinases critical for cell growth and hypertrophy, were activated in diabetes, and AS treatment almost abolished their activation.", "output": {"entities": {"gene": [{"text": "protein kinase B", "start": 4, "end": 20}], "disease": [{"text": "hypertrophy", "start": 82, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We analyzed somatic mutation of BAX and BAK genes in 47 gastric, 47 colorectal, 47 breast, 47 lung and 47 prostate carcinomas, and 47 acute leukemias by a polymerase chain reaction and single-strand conformation polymorphism assay.", "output": {"entities": {"gene": [{"text": "BAX", "start": 32, "end": 35}], "disease": [{"text": "somatic mutation", "start": 12, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "They are associated with aggressive behavior and poor prognosis, and typically do not express hormone receptors or HER-2 (\" triple-negative \" phenotype).", "output": {"entities": {"gene": [{"text": "HER-2", "start": 115, "end": 120}], "disease": [{"text": "aggressive behavior", "start": 25, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "A novel type 1 diabetes locus was mapped to the interleukin-2 receptor alpha gene (IL2RA) on chromosome 10p15. 1, encoding an important modulator of immunity.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 71, "end": 81}], "disease": [{"text": "type 1 diabetes", "start": 8, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "With rare exceptions, all five anti-PSMA mAbs reacted strongly with the neovasculature of a wide spectrum of malignant neoplasms: conventional (clear cell) renal carcinoma (11 of 11 cases), transitional cell carcinoma of the urinary bladder (6 of 6 cases), testicular embryonal carcinoma (1 of 1 case), colonic adenocarcinoma (5 of 5 cases), neuroendocrine carcinoma (5 of 5 cases), glioblastoma multiforme (1 of 1 cases), malignant melanoma (5 of 5 cases), pancreatic duct carcinoma (4 of 4 cases), non-small cell lung carcinoma (5 of 5 cases), soft tissue sarcoma (5 of 6 cases), breast carcinoma (5 of 6 cases), and prostatic adenocarcinoma (2 of 12 cases).", "output": {"entities": {"gene": [{"text": "PSMA", "start": 36, "end": 40}], "disease": [{"text": "testicular embryonal carcinoma", "start": 257, "end": 287}]}, "relations": {}}, "schema": []}
{"input": "Rat NP22 may affect microtubule or microfilament function, thereby regulating the neuroplastic changes associated with the development of alcohol dependence and physical withdrawal.", "output": {"entities": {"gene": [{"text": "NP22", "start": 4, "end": 8}], "disease": [{"text": "alcohol dependence", "start": 138, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NP22", "start": 4, "end": 8}, "tail": {"text": "alcohol dependence", "start": 138, "end": 156}}]}}, "schema": []}
{"input": "The translocation results in a fusion gene between NUP98 at 11p15 and PSIP1 encoding two transcriptional coactivators, p52 and p75, at 9p22.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 51, "end": 56}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Thus, IGF-I overexpression had no significant effect on weight gain and islet cell compensation in response to high-fat diet-induced obesity.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 6, "end": 11}], "disease": [{"text": "weight gain", "start": 56, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the AIRE PHD finger have been linked to autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).", "output": {"entities": {"gene": [{"text": "AIRE", "start": 17, "end": 21}], "disease": [{"text": "APECED", "start": 117, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 17, "end": 21}, "tail": {"text": "APECED", "start": 117, "end": 123}}]}}, "schema": []}
{"input": "Most CD8 + cells in skin lesions of CD3 + CD4 + mycosis fungoides are CD3 + T cells that lack CD11b, CD16, CD56, CD57, and human Hanukah factor mRNA.", "output": {"entities": {"gene": [{"text": "CD8", "start": 5, "end": 8}], "disease": [{"text": "skin lesions", "start": 20, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "In two of these families we used a functional assay to demonstrate an almost total loss of cathepsin C activity in PLS patients and reduced activity in obligate carriers.", "output": {"entities": {"gene": [{"text": "cathepsin C", "start": 91, "end": 102}], "disease": [{"text": "PLS", "start": 115, "end": 118}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cathepsin C", "start": 91, "end": 102}, "tail": {"text": "PLS", "start": 115, "end": 118}}]}}, "schema": []}
{"input": "Nevertheless, severe malaria was not associated with polymorphisms located at positions-308A and-238A in the TNF alpha gene promoter or with a high TNF level in plasma in children from Bamako, Mali.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 113, "end": 123}], "disease": [{"text": "severe malaria", "start": 14, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The objectives of this study were to investigate the dysplasia, histological malformations, and genetic abnormalities in male rats induced by maternal exposure to di-n-butyl phthalate (DBP).", "output": {"entities": {"gene": [{"text": "DBP", "start": 185, "end": 188}], "disease": [{"text": "abnormalities", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Comparison of the three predicted human MTG8-related polypeptides to their Drosophila counterpart (nervy) highlights four separate regions of sequence conservation that may correspond to distinct domains.", "output": {"entities": {"gene": [{"text": "MTG8", "start": 40, "end": 44}], "disease": [{"text": "nervy", "start": 99, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "Pyrosequencing analysis of the promoter region revealed that LRRC3B was significantly hypermethylated in gastric tumors.", "output": {"entities": {"gene": [{"text": "LRRC3B", "start": 61, "end": 67}], "disease": [{"text": "gastric tumors", "start": 105, "end": 119}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LRRC3B", "start": 61, "end": 67}, "tail": {"text": "gastric tumors", "start": 105, "end": 119}}]}}, "schema": []}
{"input": "Our results suggest that TNFAIP8 might be an effective therapeutic target for ESCC in the future.", "output": {"entities": {"gene": [{"text": "TNFAIP8", "start": 25, "end": 32}], "disease": [{"text": "ESCC", "start": 78, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNFAIP8", "start": 25, "end": 32}, "tail": {"text": "ESCC", "start": 78, "end": 82}}]}}, "schema": []}
{"input": "The authors previously reported ornithine cytotoxicity in ornithine-δ-aminotransferase (OAT)-deficient human retinal pigment epithelial (RPE) cells as an in vitro model of gyrate atrophy of the choroid and retina (GA).", "output": {"entities": {"gene": [{"text": "RPE", "start": 137, "end": 140}], "disease": [{"text": "gyrate atrophy of the choroid and retina", "start": 172, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "This study sought to identify loci for coronary artery calcification (CAC) in patients with chronic kidney disease (CKD).", "output": {"entities": {"gene": [{"text": "CAC", "start": 70, "end": 73}], "disease": [{"text": "coronary artery calcification", "start": 39, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "24 testicular germ cell tumors, 4 testicular cancer cell lines (TERA I, TERA II, HTE, HTH), 8 benign testicular tumors and 9 samples of normal testicular parenchyma were examined.", "output": {"entities": {"gene": [{"text": "HTE", "start": 81, "end": 84}], "disease": [{"text": "testicular tumors", "start": 101, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.", "output": {"entities": {"gene": [{"text": "PMP22", "start": 8, "end": 13}], "disease": [{"text": "hereditary neuropathy with liability to pressure palsies", "start": 49, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PMP22", "start": 8, "end": 13}, "tail": {"text": "hereditary neuropathy with liability to pressure palsies", "start": 49, "end": 105}}]}}, "schema": []}
{"input": "We found that expression of CD151 was positively related to metastatic potential of HCC cell lines, and modified cells with CD151 (high) showed higher secretion of matrix metalloproteinase 9 and aggressiveness in vitro and higher metastatic ability in vivo.", "output": {"entities": {"gene": [{"text": "HCC", "start": 84, "end": 87}], "disease": [{"text": "aggressiveness", "start": 195, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Orexin A expression and promoter methylation in patients with cannabis dependence in comparison to nicotine-dependent cigarette smokers and nonsmokers.", "output": {"entities": {"gene": [{"text": "Orexin", "start": 0, "end": 6}], "disease": [{"text": "cannabis dependence", "start": 62, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Orexin", "start": 0, "end": 6}, "tail": {"text": "cannabis dependence", "start": 62, "end": 81}}]}}, "schema": []}
{"input": "Here we show that forced expression of occludin induces anoikis and promotes oxidative stress-induced premature senescence in breast carcinoma cells, which is accompanied by upregulation of negative cell cycle regulators such as p16 (INK4A), p21 (Waf1/Cip1) and p27 (Kip1) but not p53.", "output": {"entities": {"gene": [{"text": "occludin", "start": 39, "end": 47}], "disease": [{"text": "breast carcinoma", "start": 126, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "occludin", "start": 39, "end": 47}, "tail": {"text": "breast carcinoma", "start": 126, "end": 142}}]}}, "schema": []}
{"input": "Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.", "output": {"entities": {"gene": [{"text": "GARS", "start": 23, "end": 27}], "disease": [{"text": "distal hereditary motor neuropathy type V", "start": 52, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GARS", "start": 23, "end": 27}, "tail": {"text": "distal hereditary motor neuropathy type V", "start": 52, "end": 93}}]}}, "schema": []}
{"input": "Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "keratin 1", "start": 46, "end": 55}], "disease": [{"text": "striate palmoplantar keratoderma", "start": 67, "end": 99}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 1", "start": 46, "end": 55}, "tail": {"text": "striate palmoplantar keratoderma", "start": 67, "end": 99}}]}}, "schema": []}
{"input": "African American, Caucasian, Chinese, and Japanese women in SWAN enrolled in the Sex Steroid Hormone Genetics Protocol from whom fasting glucose and insulin measures (for estimating insulin sensitivity), diabetes status, and metabolic syndrome classification were obtained.", "output": {"entities": {"gene": [{"text": "SWAN", "start": 60, "end": 64}], "disease": [{"text": "insulin sensitivity", "start": 182, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "One of the most common forms of carcinoma in women, cervical invasive squamous cell carcinoma (CIC), often coexists with multiple lesions of cervical intraepithelial neoplasia (CIN).", "output": {"entities": {"gene": [{"text": "CIC", "start": 95, "end": 98}], "disease": [{"text": "squamous cell carcinoma", "start": 70, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.", "output": {"entities": {"gene": [{"text": "KRAS", "start": 16, "end": 20}], "disease": [{"text": "encephalocraniocutaneous lipomatosis", "start": 86, "end": 122}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRAS", "start": 16, "end": 20}, "tail": {"text": "encephalocraniocutaneous lipomatosis", "start": 86, "end": 122}}]}}, "schema": []}
{"input": "Additionally, we demonstrated that reduction of ERK1/2 activity led to C/EBPbeta Thr (235) dephosphorylation and moderate growth retardation.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 48, "end": 52}], "disease": [{"text": "growth retardation", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "The changes in expression of seven transcripts, WDR35, FLF45244, DHCR24, TIGD7, TOPBP1, TSHZ1, and FAM8A1 were strongly correlated with the changes in body weight, fasting plasma glucose and glycosylated hemoglobin content.", "output": {"entities": {"gene": [{"text": "TOPBP1", "start": 80, "end": 86}], "disease": [{"text": "body weight", "start": 151, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "To determine whether cytokines are generated in vivo in subjects with asthma, we have measured cytokine levels (tumor necrosis factor [TNF], granulocyte-macrophage-colony-stimulating factor [GM-CSF], interleukin [IL]-1 alpha, IL-1 beta, IL-2, IL-4, and IL-6) in the airways of subjects with symptomatic (N = 24) and asymptomatic (N = 9) asthma with immunoassays (GM-CSF, IL-1 alpha, IL-1 beta, IL-2, and IL-4) or bioassays (TNF and IL-6) and the polymerase chain reaction (IL-1 beta and TNF).", "output": {"entities": {"gene": [{"text": "IL-4", "start": 243, "end": 247}], "disease": [{"text": "asymptomatic", "start": 316, "end": 328}]}, "relations": {}}, "schema": []}
{"input": "Bone marrow transfer experiments showing that macrophages from ApoE (-/-) Akt1 (-/-) donors were not sufficient to worsen atherogenesis when transferred to ApoE (-/-) recipients suggest that lesion expansion in the ApoE (-/-) Akt1 (-/-) strain might be of vascular origin.", "output": {"entities": {"gene": [{"text": "Akt1", "start": 74, "end": 78}], "disease": [{"text": "atherogenesis", "start": 122, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "We used a candidate gene strategy in a study of polymorphic markers within or close to genes encoding cytokines (interferon-gamma (IFN-gamma), interleukin-2 (IL-2), IL-4, IL-4 receptor (IL-4R), IL-10, transforming growth factor-beta1 and-beta2) and myelin proteins (2', 3'-cyclic-nucleotide 3'-phosphohydrolase (CNP: ase), myelin associated glycoprotein, oligodendrocyte myelin glycoprotein, proteolipid protein) in 34 Swedish multiplex MS families and in 147 sporadic MS patients and 95 healthy controls.", "output": {"entities": {"gene": [{"text": "IFN", "start": 131, "end": 134}], "disease": [{"text": "sporadic", "start": 460, "end": 468}]}, "relations": {}}, "schema": []}
{"input": "Combining TNFSF15 and ASCA IgA can be used as a predictor for the stenosis/perforating phenotype of Crohn' s disease.", "output": {"entities": {"gene": [{"text": "TNFSF15", "start": 10, "end": 17}], "disease": [{"text": "stenosis", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Predominant TcR V beta3 gene usage in liver tissue in primary sclerosing cholangitis may indicate the presence of a specific antigen in this tissue with the capacity of selectively driving T cells, utilizing the V beta3 gene segment product, in primary sclerosing cholangitis patients.", "output": {"entities": {"gene": [{"text": "beta3", "start": 18, "end": 23}], "disease": [{"text": "primary sclerosing cholangitis", "start": 54, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We genotyped a set of 341 single nucleotide polymorphisms (SNPs) encompassing the EphB2 locus, including known and novel coding and noncoding variants, in 490 AA sporadic PC cases and 567 matched controls.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 82, "end": 87}], "disease": [{"text": "sporadic", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, DNP also increased HSP70-2 RNA transcription through directly binding to the hypoxia-responsive elements (HRE) and heat shock elements (HSE) located in the HSP70-2 promoter.", "output": {"entities": {"gene": [{"text": "HSP70-2", "start": 32, "end": 39}], "disease": [{"text": "shock", "start": 133, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Heart failure was produced by myocardial infarction, and was associated with markedly increased AMPK and SIRT1 protein levels.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 105, "end": 110}], "disease": [{"text": "Heart failure", "start": 0, "end": 13}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "SIRT1", "start": 105, "end": 110}, "tail": {"text": "Heart failure", "start": 0, "end": 13}}]}}, "schema": []}
{"input": "The differential expression of 105 cancer-related microRNAs was examined and compared in HCT116 cells and HKe3 cells (HCT116 cells in which mutated KRAS allele was deleted) in 3D culture.", "output": {"entities": {"gene": [{"text": "HKe3", "start": 106, "end": 110}], "disease": [{"text": "cancer", "start": 35, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Intraperitoneal injection of LSD1 inhibitor pargyline from 3 d to 14 d after inoculation of MRMT-1 cancer cells reduced bone cancer pain behaviors.", "output": {"entities": {"gene": [{"text": "LSD1", "start": 29, "end": 33}], "disease": [{"text": "bone cancer", "start": 120, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Unselected patients (108) who underwent curative colorectal resection for sporadic colorectal cancer in a three-year period were evaluated for MSI using 6 microsatellite markers, and for the presence of p27, p53, Fhit, Mlh1 and Msh2 proteins by means of immunostaining.", "output": {"entities": {"gene": [{"text": "p53", "start": 208, "end": 211}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: While there was no change in Slit3, Robo1 or Robo4 expression, Slit2 expression was significantly lower in obese placenta compared to lean placenta.", "output": {"entities": {"gene": [{"text": "Slit2", "start": 72, "end": 77}], "disease": [{"text": "obese", "start": 116, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Tubular and interstitial PTEN expression was dramatically decreased in several models of renal injury, including aristolochic acid nephropathy (AAN), streptozotocin (STZ)-mediated injury and ureteral unilateral obstruction (UUO), correlating with Akt, p53 and SMAD3 activation and fibrosis.", "output": {"entities": {"gene": [{"text": "STZ", "start": 166, "end": 169}], "disease": [{"text": "aristolochic acid nephropathy", "start": 113, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "We performed a sequence analysis of PINK1 in 115 patients diagnosed with Parkinson' s disease (PD) from southern Italy, including 93 sporadic cases with EOPD, 9 familial cases with EOPD, and 13 familial cases with LOPD.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 36, "end": 41}], "disease": [{"text": "sporadic", "start": 133, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the diversity of the CD4 + T-cell repertoire in this disorder, a detailed clonal analysis was performed in five individuals with active sarcoidosis who demonstrated preferential accumulation of T cells expressing the T-cell receptor variable gene family V beta 8 in either the lung or blood.", "output": {"entities": {"gene": [{"text": "CD4", "start": 33, "end": 36}], "disease": [{"text": "sarcoidosis", "start": 148, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "In older women, SHBG is negatively associated with MetS independently of confounders, including inflammatory markers and insulin resistance.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 16, "end": 20}], "disease": [{"text": "insulin resistance", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 33, "end": 38}], "disease": [{"text": "Pfeiffer syndrome", "start": 57, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 33, "end": 38}, "tail": {"text": "Pfeiffer syndrome", "start": 57, "end": 74}}]}}, "schema": []}
{"input": "Persons with unexplained early-onset stroke have been targeted for screening surveys for Fabry disease, the most common of the three X-linked lysosomal disorders, because Fabry patients with stroke are more likely to have the life-threatening progressive cardiac and renal manifestations and would therefore most benefit from early diagnosis and intervention with enzyme replacement therapy (ERT).", "output": {"entities": {"gene": [{"text": "ERT", "start": 392, "end": 395}], "disease": [{"text": "stroke", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Transfection of Sctr in Y1 adrenocortical carcinoma cells, expressing low endogenous levels of Sctr, stimulates cell proliferation also, in part, via the PI3K/AKT signaling cascade.", "output": {"entities": {"gene": [{"text": "Sctr", "start": 16, "end": 20}], "disease": [{"text": "adrenocortical carcinoma", "start": 27, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In this study, a novel dual-regulated oncolytic adenovirus GD55 targeting HCC was first constructed based on our cancer targeted gene-viral therapeutic strategy.", "output": {"entities": {"gene": [{"text": "HCC", "start": 74, "end": 77}], "disease": [{"text": "adenovirus", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "PATIENTS AND METHODS: Pretreatment tumor biopsy specimens from 50 patients with NSCLC including stage IIIB with malignant pleural effusion or stage IV or recurrent disease were analyzed for p53, Bcl-2, Bax, and ERCC1 expression by immunohistochemistry.", "output": {"entities": {"gene": [{"text": "ERCC1", "start": 211, "end": 216}], "disease": [{"text": "malignant pleural effusion", "start": 112, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Our results demonstrate: (i) the major histocompatibility complex (MHC: H-2 in mouse, HLA in man: mouse chromosome 17/human 6p; candidates class II and class III including TNF alpha/beta genes) shows both linkage to, and allelic association with, leprosy per se, but is only weakly associated with visceral leishmaniasis and shows neither linkage to nor allelic association with tuberculosis; (ii) no evidence for linkage between NRAMP1, the positionally cloned candidate for the murine macrophage resistance gene Ity/Lsh/Bcg (mouse chromosome 1/human 2q35), and susceptibility to tuberculosis or visceral leishmaniasis could be demonstrated in this Brazilian population; (iii) the region of human chromosome 17q (candidates NOS2A, SCYA2-5) homologous with distal mouse chromosome 11, originally identified as carrying the Scl1 gene controlling healing versus nonhealing responses to Leishmania major, is linked to tuberculosis susceptibility; and (iv) the' T helper 2' cytokine gene cluster (proximal murine chromosome 11/human 5q; candidates IL4, IL5, IL9, IRF1, CD14) controlling later phases of murine L. major infection, is not linked to human disease susceptibility for any of the three infections, but shows linkage to and highly significant allelic association with ability to mount an immune response to mycobacterial antigens.", "output": {"entities": {"gene": [{"text": "SCYA2", "start": 732, "end": 737}], "disease": [{"text": "leprosy", "start": 247, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "Importantly, due to the restricted expression of IL-22R1, IL-22 therapy is expected to have few side effects, thus making IL-22 a potential candidate for treatment of alcoholic liver disease.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 49, "end": 54}], "disease": [{"text": "alcoholic liver disease", "start": 167, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "We thus found it relevant to elucidate whether parental HLA-C and-Bw polymorphism play a role in recurrent miscarriage (RM).", "output": {"entities": {"gene": [{"text": "HLA-C", "start": 56, "end": 61}], "disease": [{"text": "recurrent miscarriage", "start": 97, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Recently, heterozygous missense mutations in KIF22, a gene which encodes a member of the kinesin-like protein family, have been identified in sporadic as well as familial cases of SEMDJL2.", "output": {"entities": {"gene": [{"text": "KIF22", "start": 45, "end": 50}], "disease": [{"text": "sporadic", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Differentiation induction and proliferation inhibition were required for optimal suppression of leukemogenesis, as indicated by the effects of p42 C/EBPalpha, which were more potent than those of K298E C/EBPalpha, a mutant defective in DNA binding and transcription activation that failed to induce granulocyte differentiation.", "output": {"entities": {"gene": [{"text": "p42", "start": 143, "end": 146}], "disease": [{"text": "leukemogenesis", "start": 96, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia.", "output": {"entities": {"gene": [{"text": "CDP", "start": 13, "end": 16}], "disease": [{"text": "skeletal dysplasia", "start": 130, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that besides B27, other HLA-linked factors influence susceptibility to spondylitic disorders and might act as' modifier' genes for the type and severity of spondylo-arthropathy in a B27-positive individual.", "output": {"entities": {"gene": [{"text": "B27", "start": 32, "end": 35}], "disease": [{"text": "arthropathy", "start": 184, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "HLA analysis did not show any allelic association of C4A * Q0 or C4B * Q0 with any HLA antigen in vitiligo, but confirmed the previous findings of a negative association with HLA-DR3 and a positive association with HLA-DR4.", "output": {"entities": {"gene": [{"text": "C4B", "start": 65, "end": 68}], "disease": [{"text": "vitiligo", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Preselected clinical and laboratory variables (age, sex, location of VTE, body mass index, factor V Leiden, prothrombin G20210A mutation, D-dimer, and in vitro thrombin generation) were analyzed in a Cox proportional hazards model, and those variables that were significantly associated with recurrence were used to compute risk scores.", "output": {"entities": {"gene": [{"text": "factor V Leiden", "start": 91, "end": 106}], "disease": [{"text": "body mass index", "start": 74, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of the Myc-Skp2-Miz1 complex is found in metastatic human cancers and is correlated with RhoA expression.", "output": {"entities": {"gene": [{"text": "Miz1", "start": 31, "end": 35}], "disease": [{"text": "cancers", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Although certain atypical histologic features were observed in the FOSB-rearranged EH, including solid growth, increased cellularity, mild to moderate nuclear pleomorphism, and necrosis in 3/9 cases, no overt sarcomatous areas were discerned to objectively separate the lesions from the fusion-negative EH.", "output": {"entities": {"gene": [{"text": "FOSB", "start": 67, "end": 71}], "disease": [{"text": "necrosis", "start": 177, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "By relieving a cAMP-negative constraint, PDE4B plays an essential role in T (H) 2-cell activation and dendritic cell recruitment during airway inflammation.", "output": {"entities": {"gene": [{"text": "PDE4B", "start": 41, "end": 46}], "disease": [{"text": "inflammation", "start": 143, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Using tandem mass spectrometric analysis, we now have established that the C106 thiol and the C23-C45 disulfide bond are required for HMGB1 to induce nuclear NF-κB translocation and tumor necrosis factor (TNF) production in macrophages.", "output": {"entities": {"gene": [{"text": "TNF", "start": 205, "end": 208}], "disease": [{"text": "translocation", "start": 164, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "We observed a higher risk associated with alcohol consumption and smoking among homozygous GPX1 (198) Leu carriers, with incidence rate ratios for colorectal cancer of 1. 45 (95% CI: 1. 17-1. 81, P = 0. 02) per 10g alcohol intake per day and 2. 56 (95% CI: 0. 99-6. 61, P = 0. 02) among ever smokers compared with never smokers at enrolment.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 91, "end": 95}], "disease": [{"text": "alcohol intake", "start": 215, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, a signaling pathway for the development of fibrosis involves the regulation of TIMP-1 expression by phosphorylated JunD.", "output": {"entities": {"gene": [{"text": "JunD", "start": 130, "end": 134}], "disease": [{"text": "fibrosis", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome.", "output": {"entities": {"gene": [{"text": "FMRP", "start": 39, "end": 43}], "disease": [{"text": "fragile X syndrome", "start": 149, "end": 167}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMRP", "start": 39, "end": 43}, "tail": {"text": "fragile X syndrome", "start": 149, "end": 167}}]}}, "schema": []}
{"input": "A case-control study was designed to investigate the effects of eight known risk factors [breast feeding, ABO incompatibility, premature birth, infection, cephalohematoma, asphyxia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and variant UDP-glucuronosyltransferase 1A1 (UGT1A1) gene] and a suspicious analog [organic anion transporter 2 (OATP 2) gene] on severe hyperbilirubinemia in Taiwanese neonates.", "output": {"entities": {"gene": [{"text": "OATP", "start": 348, "end": 352}], "disease": [{"text": "cephalohematoma", "start": 155, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "The promoter methylation of DAPK1, FHIT, MGMT, and CDKN2A in cervical cancer vs. intraepithelial neoplasia vs. normal cervical tissue was 75. 5 vs. 31. 8 vs. 4. 2% (p < 0. 0001), 66. 0 vs. 59. 1 vs. 25. 0% (p = 0. 0033), 34. 0 vs. 27. 3 vs. 20. 8% (p = 0. 76), and 17. 0 vs. 31. 8 vs. 8. 3% (p = 0. 11), respectively.", "output": {"entities": {"gene": [{"text": "MGMT", "start": 41, "end": 45}], "disease": [{"text": "intraepithelial neoplasia", "start": 81, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.", "output": {"entities": {"gene": [{"text": "FOXF1", "start": 100, "end": 105}], "disease": [{"text": "ACD/MPV", "start": 109, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXF1", "start": 100, "end": 105}, "tail": {"text": "ACD/MPV", "start": 109, "end": 116}}]}}, "schema": []}
{"input": "Also, Ki-67 proliferation index ⠉ ¥ 20% in more studies was associated with p53-positive. Therefore, tumors which are HER2-positive and have a Ki-67⠉ ¥ 20% had a more aggressive behavior compared to HER2-positive and Ki-67 < 20% lesions.", "output": {"entities": {"gene": [{"text": "HER2", "start": 120, "end": 124}], "disease": [{"text": "aggressive behavior", "start": 171, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Ten Aza-dC and/or TSA up-regulated genes (CPEB1, CD9, GJA1, BCL7c, GADD45G, AKAP12, TFPI2, CCNA1, SPARC, and BNIP3) were selected for methylation analysis in six MM cell lines, 24 samples from patients with monoclonal gammopathy of undetermined significance (MGUS), and 111 samples from patients with MM.", "output": {"entities": {"gene": [{"text": "CPEB1", "start": 42, "end": 47}], "disease": [{"text": "monoclonal gammopathy of undetermined significance", "start": 207, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient' s asymptomatic maternal relatives.", "output": {"entities": {"gene": [{"text": "COX", "start": 108, "end": 111}], "disease": [{"text": "asymptomatic", "start": 226, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Cytogenetic analysis of amniocytes revealed an unbalanced de novo translocation between chromosomes X and Y [karyotype 46, X, der (X) t (X; Y) (p22. 3; q11. 2). ish der (X) (DXZ1 +, DMD +, KAL-, STS-, SRY-), 22q11. 2 (Tuple1 x 2)].", "output": {"entities": {"gene": [{"text": "SRY", "start": 201, "end": 204}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In Scandinavian sarcoidosis patients, we have previously described a correlation between lung-accumulated CD4 + T cells expressing the T-cell receptor (TCR) V alpha 2. 3 gene segment and a particular HLA type (DR3 [17], DQ2).", "output": {"entities": {"gene": [{"text": "CD4", "start": 106, "end": 109}], "disease": [{"text": "sarcoidosis", "start": 16, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Serum IL-4 levels in the mild, moderate, and severe groups were significantly higher than those in the control group; significant differences were found among these three groups with increased severity of AD.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 6, "end": 10}], "disease": [{"text": "mild", "start": 25, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Rapid early weight gain leads to taller childhood stature and higher insulin-like growth factor I (IGF-I) levels, possibly through early induction of growth hormone (GH) receptor numbers, and such children are also at risk of childhood obesity.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 99, "end": 104}], "disease": [{"text": "weight gain", "start": 12, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "EMS spectrum disorder also showed similar findings, but with DRB1 * 04 being a risk factor and DRB1 * 07 and DQA1 * 0201 being protective.", "output": {"entities": {"gene": [{"text": "DQA1", "start": 109, "end": 113}], "disease": [{"text": "EMS", "start": 0, "end": 3}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DQA1", "start": 109, "end": 113}, "tail": {"text": "EMS", "start": 0, "end": 3}}]}}, "schema": []}
{"input": "The expression of TFF2 was immunohistochemically analyzed in paraffin-embedded samples from 119 patients with endoscopic biopsy and subtotal gastrectomy specimens of gastric mucosal lesions, including 16 cases of chronic superficial gastritis (CSG), 20 chronic atrophic gastritis (CAG), 35 intestinal metaplasia (IM), 23 gastric epithelial dysplasia (GED) and 25 gastric carcinoma (CA), and Helicobacter pylori infection was detected by Warthin-Starry staining.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 18, "end": 22}], "disease": [{"text": "epithelial dysplasia", "start": 329, "end": 349}]}, "relations": {}}, "schema": []}
{"input": "The proliferating cell nuclear antigen (PCNA) (by immunohistochemistry) and the HDV RNA (by in situ hybridization) were stained in neoplastic and non-neoplastic liver tissues of 19 patients with chronic HDV infection, including four cases of cirrhosis with superimposed hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "PCNA", "start": 40, "end": 44}], "disease": [{"text": "non-neoplastic", "start": 146, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Thirteen nonsynonymous variants, 5 of which had a minor allele frequency of < 0. 05, were genotyped in 210 familial cases, 47 of which with a known TMPRSS2-ERG status, 329 sporadic cases, and 512 controls.", "output": {"entities": {"gene": [{"text": "TMPRSS2", "start": 148, "end": 155}], "disease": [{"text": "sporadic", "start": 172, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "DNA repair gene XRCC1 polymorphisms, smoking, and bladder cancer risk: a meta-analysis.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 16, "end": 21}], "disease": [{"text": "smoking", "start": 37, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In this study, a comprehensive genetic analysis of SMAD4, BMPR1A, PTEN and ENG is performed through direct sequencing and multiplex ligation-dependent probe amplification (MLPA) in JPS patients.", "output": {"entities": {"gene": [{"text": "ENG", "start": 75, "end": 78}], "disease": [{"text": "JPS", "start": 181, "end": 184}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ENG", "start": 75, "end": 78}, "tail": {"text": "JPS", "start": 181, "end": 184}}]}}, "schema": []}
{"input": "Whether mutations in the melanocortin-4 receptor (MC4R) are the cause of binge eating disorder was controversial.", "output": {"entities": {"gene": [{"text": "MC4R", "start": 50, "end": 54}], "disease": [{"text": "binge eating disorder", "start": 73, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "A variable number of tandem repeats (VNTR) polymorphism in the promoter of PTTG1IP, pituitary tumor transforming gene binding factor targeted by estrogen receptor α (ERα) in endocrine neoplasia, has been shown to be functional, but its relevance to cancer etiology was unknown.", "output": {"entities": {"gene": [{"text": "PTTG1IP", "start": 75, "end": 82}], "disease": [{"text": "endocrine neoplasia", "start": 174, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Given the neuroprotective activity of FGF-2, the data presented here might be relevant to the deficit in cognition and other symptoms that appear in schizophrenia.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 38, "end": 43}], "disease": [{"text": "schizophrenia", "start": 149, "end": 162}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-2", "start": 38, "end": 43}, "tail": {"text": "schizophrenia", "start": 149, "end": 162}}]}}, "schema": []}
{"input": "Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus.", "output": {"entities": {"gene": [{"text": "TREX1", "start": 31, "end": 36}], "disease": [{"text": "chilblain lupus", "start": 63, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TREX1", "start": 31, "end": 36}, "tail": {"text": "chilblain lupus", "start": 63, "end": 78}}]}}, "schema": []}
{"input": "In addition, interactions between genotype and smoking, benign breast disease, family history of breast cancer, body mass index (BMI), alcohol consumption, and hormonal risk factors, hormone receptor status, and breast cancer pathology were calculated also using logistic regression and χ (2).", "output": {"entities": {"gene": [{"text": "hormone receptor", "start": 183, "end": 199}], "disease": [{"text": "smoking", "start": 47, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "This locus harbours four strong candidate genes for schizophrenia: atractin (ATRN), pantonate-kinase2 (PANK2), oxytocin (OXT) and arginine-vasopressin (AVP).", "output": {"entities": {"gene": [{"text": "PANK2", "start": 103, "end": 108}], "disease": [{"text": "schizophrenia", "start": 52, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PANK2", "start": 103, "end": 108}, "tail": {"text": "schizophrenia", "start": 52, "end": 65}}]}}, "schema": []}
{"input": "Furthermore, Epo increased the secretion of interleukin (IL)-4, IL-5, IL-6, IL-8, IL-10, IL-12, IL-13, GM-CSF and interferon-γ by A2780 cells that grew in hypoxic conditions.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 96, "end": 101}], "disease": [{"text": "hypoxic", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Two new gastric cancer molecular markers (tie-1 and mkk4) have been identified through the use of these profiles and demonstrated effective as clinical prognostic indicators.", "output": {"entities": {"gene": [{"text": "mkk4", "start": 52, "end": 56}], "disease": [{"text": "gastric cancer", "start": 8, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Defects in the photoreceptor-specific gene aryl hydrocarbon receptor interacting protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding disease with early-onset retinal degeneration and vision loss.", "output": {"entities": {"gene": [{"text": "Aipl1", "start": 97, "end": 102}], "disease": [{"text": "retinal degeneration", "start": 204, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "In 40 patients, biopsy specimens were taken from the left ventricle area of presumed ischemia for p50, p65 and IкBα quantification.", "output": {"entities": {"gene": [{"text": "p50", "start": 98, "end": 101}], "disease": [{"text": "ischemia", "start": 85, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the & #945; & #946;-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.", "output": {"entities": {"gene": [{"text": "TBCD", "start": 38, "end": 42}], "disease": [{"text": "intellectual disability", "start": 404, "end": 427}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TBCD", "start": 38, "end": 42}, "tail": {"text": "intellectual disability", "start": 404, "end": 427}}]}}, "schema": []}
{"input": "Anyhow, if there is an influence of genetic variation in DGAT2 on body weight regulation, it might either be conferred by the less common variants (MAF < 0. 1) or the detected, rare non-synonymous variants.", "output": {"entities": {"gene": [{"text": "MAF", "start": 148, "end": 151}], "disease": [{"text": "body weight", "start": 66, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "Two genomewide association studies of predominantly sporadic but also familial cases of TGCT have implicated the KIT-ligand, SPRY4, and BAK1 genes as TGCT risk modifiers.", "output": {"entities": {"gene": [{"text": "BAK1", "start": 136, "end": 140}], "disease": [{"text": "sporadic", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.", "output": {"entities": {"gene": [{"text": "CSMD2", "start": 117, "end": 122}], "disease": [{"text": "depression", "start": 48, "end": 58}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CSMD2", "start": 117, "end": 122}, "tail": {"text": "depression", "start": 48, "end": 58}}]}}, "schema": []}
{"input": "We show that miR-17-5p is an oncogenic miRNA that regulates tumorigenesis and progression by targeting the gene encoding P130 and subsequently activating the Wnt/β-catenin pathway.", "output": {"entities": {"gene": [{"text": "P130", "start": 121, "end": 125}], "disease": [{"text": "tumorigenesis", "start": 60, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "In this study, we measured the mRNA levels of VLDLR and ApoER2 in blood lymphocytes from patients with schizophrenia (drug-naive patients (n = 20) and medicated patients (n = 20)) and age-and gender-matched healthy controls (n = 40) using quantitative real-time RT-PCR.", "output": {"entities": {"gene": [{"text": "ApoER2", "start": 56, "end": 62}], "disease": [{"text": "schizophrenia", "start": 103, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ApoER2", "start": 56, "end": 62}, "tail": {"text": "schizophrenia", "start": 103, "end": 116}}]}}, "schema": []}
{"input": "Association of the R67X and W303X non-sense polymorphisms in the protein Z-dependent protease inhibitor gene with idiopathic recurrent miscarriage.", "output": {"entities": {"gene": [{"text": "protein Z", "start": 65, "end": 74}], "disease": [{"text": "recurrent miscarriage", "start": 125, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype.", "output": {"entities": {"gene": [{"text": "SLC17A5", "start": 72, "end": 79}], "disease": [{"text": "Salla disease", "start": 115, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC17A5", "start": 72, "end": 79}, "tail": {"text": "Salla disease", "start": 115, "end": 128}}]}}, "schema": []}
{"input": "In accordance with these results, PON1 (0) mice MPM exhibited 130% increased translocation of the cytosolic p47phox component of NADPH-oxidase to the macrophage plasma membrane, suggesting increased activation of macrophage NADPH-oxidase in PON1 (0) mice, compared to control mice MPM.", "output": {"entities": {"gene": [{"text": "PON1", "start": 34, "end": 38}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These phenomena coordinately trigger a TLX1-driven pre-leukemic phenotype in human thymic precursor cells, reminiscent of the thymus regression observed in murine TLX1 tumor models, and create a strong genetic pressure for acquiring activating NOTCH1 mutations as a prerequisite for full leukemic transformation.", "output": {"entities": {"gene": [{"text": "NOTCH1", "start": 244, "end": 250}], "disease": [{"text": "regression", "start": 133, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long-term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons.", "output": {"entities": {"gene": [{"text": "GNMT", "start": 40, "end": 44}], "disease": [{"text": "GNMT deficiency", "start": 151, "end": 166}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNMT", "start": 40, "end": 44}, "tail": {"text": "GNMT deficiency", "start": 151, "end": 166}}]}}, "schema": []}
{"input": "Delineation of the translocation breakpoints showed that the ERBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13. 1 and GPC6 in 13q32.", "output": {"entities": {"gene": [{"text": "Erbin", "start": 99, "end": 104}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "A T & gt; C transition causing a Leu & gt; Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.", "output": {"entities": {"gene": [{"text": "arylsulfatase A", "start": 89, "end": 104}], "disease": [{"text": "metachromatic leukodystrophy", "start": 130, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "arylsulfatase A", "start": 89, "end": 104}, "tail": {"text": "metachromatic leukodystrophy", "start": 130, "end": 158}}]}}, "schema": []}
{"input": "The aim of the present study was to evaluate the association of apolipoprotein A-IV (APOA4) polymorphisms with coronary artery calcification (CAC) progression, a marker of subclinical atherosclerosis.", "output": {"entities": {"gene": [{"text": "CAC", "start": 142, "end": 145}], "disease": [{"text": "coronary artery calcification", "start": 111, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "TrkC expression was correlated with clinical stage, lymph node metastasis, MVD, LVD, and poor prognosis.", "output": {"entities": {"gene": [{"text": "TrkC", "start": 0, "end": 4}], "disease": [{"text": "lymph node metastasis", "start": 52, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We show that the SBK1 is expressed in most of the cells and tissues examined, and the protein is highly up-regulated in ovarian serous adenocarcinoma while down-regulated in esophagus squamous cell carcinoma and stomach adenocarcinoma.", "output": {"entities": {"gene": [{"text": "SBK1", "start": 17, "end": 21}], "disease": [{"text": "ovarian serous adenocarcinoma", "start": 120, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis.", "output": {"entities": {"gene": [{"text": "FOXE3", "start": 0, "end": 5}], "disease": [{"text": "congenital primary aphakia", "start": 111, "end": 137}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FOXE3", "start": 0, "end": 5}, "tail": {"text": "congenital primary aphakia", "start": 111, "end": 137}}]}}, "schema": []}
{"input": "We used the hemagglutinating virus of Japan-liposome complex to transfect human angiotensin-converting enzyme (ACE) cDNA, driven by the cytomegalovirus enhancer and beta-actin promoter, into the lateral cerebroventricle of male Sprague-Dawley rats.", "output": {"entities": {"gene": [{"text": "ACE", "start": 111, "end": 114}], "disease": [{"text": "cytomegalovirus", "start": 136, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "We find that, as in humans, combination antiretroviral therapy (ART) in humanized (hu-) Rag2 (-/-) gamma (c) (-/-) mice allows suppression of viremia below the limits of detection and recovery of CD4 (+) cells, while interruption of ART results in viral rebound and renewed loss of CD4 (+) T cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 196, "end": 199}], "disease": [{"text": "viremia", "start": 142, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The natural dietary compound pterostilbene has an anti-proliferative effect and induces apoptosis in breast cancer cells in & #160; vitro via Bax activation and overexpression, resulting in increased MnSOD, Smac/DIABLO, and cytochrome C activity and cytosolic Ca (2 +) overload.", "output": {"entities": {"gene": [{"text": "Bax", "start": 142, "end": 145}], "disease": [{"text": "breast cancer", "start": 101, "end": 114}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Bax", "start": 142, "end": 145}, "tail": {"text": "breast cancer", "start": 101, "end": 114}}]}}, "schema": []}
{"input": "The tyrosine kinase receptor EphB4 interacts with its ephrinB2 ligand to act as a bidirectional signaling system that mediates adhesion, migration, and guidance by controlling attractive and repulsive activities.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 29, "end": 34}], "disease": [{"text": "adhesion", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "This study assessed the relationship between changes in CD4 T-cell count, HIV Viral Load (VL) level and evolutionary patterns in Antiretroviral (ARV) resistance mutations of circulating HIV in those with persistent viraemia despite treatment.", "output": {"entities": {"gene": [{"text": "CD4", "start": 56, "end": 59}], "disease": [{"text": "viraemia", "start": 215, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Engulfment and cell motility 1 presents with synergetic action in helping Dock180 to activate Rac1 and promote cell motility, and thus promote untoward expansion and aggressiveness of SOC.", "output": {"entities": {"gene": [{"text": "SOC", "start": 184, "end": 187}], "disease": [{"text": "aggressiveness", "start": 166, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "A suspicion of malignancy is critical to determine the workup and surgical approach in adrenal (A-PGL) and extra-adrenal (E-PGL) paragangliomas (PGLs).", "output": {"entities": {"gene": [{"text": "PGLs", "start": 145, "end": 149}], "disease": [{"text": "malignancy", "start": 15, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "This is the first evidence that human cancer cells differentially express CTGF protein and mRNA under the control of hypoxic conditions.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 74, "end": 78}], "disease": [{"text": "hypoxic", "start": 117, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Expression of the Ca2 +-selective cation channel TRPV6 in human prostate cancer: a novel prognostic marker for tumor progression.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 18, "end": 21}], "disease": [{"text": "prostate cancer", "start": 64, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "We tested 140 healthy individuals for factor V (FV) 1691G/A, FV4070G/A, FII 20210G/A, factor XIII (FXIII) exon 2G/T, fibrinogen beta-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA1) a/b, apolipoprotein B (ApoB) 10708 G/A, apolipoprotein E (ApoE) E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5, 10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a PCR and reverse hybridization technique that detects all of them simultaneously.", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 267, "end": 283}], "disease": [{"text": "fibrinogen", "start": 117, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Interferon gamma (IFN-γ) expression in monocytes correlated negatively with brachial artery flow-mediated dilatation also in the Leu7Pro7 group (p = 0. 037).", "output": {"entities": {"gene": [{"text": "Interferon gamma", "start": 0, "end": 16}], "disease": [{"text": "dilatation", "start": 106, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "In order to clarify the meaning of decreased expression of HBB in ATC, the expression status of HBB was investigated with ACL, ATC, papillary thyroid cancer (PTC) and normal human tissues.", "output": {"entities": {"gene": [{"text": "ACL", "start": 122, "end": 125}], "disease": [{"text": "papillary thyroid cancer", "start": 132, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "This study failed to show any role of the p53 polymorphism on age of colorectal cancer onset in Lynch syndrome and sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 42, "end": 45}], "disease": [{"text": "sporadic", "start": 115, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Studies at the protein level, allowed through E. coli expression of wildtype and L68Q mutated cystatin C genes, revealed that both protein variants effectively inhibit the cysteine proteinase cathepsin B (equilibrium constants for dissociation: 0. 4 and 0. 3 nM, respectively), but differ considerably in their tendency to dimerize and form aggregates.", "output": {"entities": {"gene": [{"text": "cathepsin B", "start": 192, "end": 203}], "disease": [{"text": "dissociation", "start": 231, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "However, the role of IRF2 in hepatic injury during hypoxic or inflammatory conditions is unknown.", "output": {"entities": {"gene": [{"text": "IRF2", "start": 21, "end": 25}], "disease": [{"text": "hypoxic", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Additional inactivation of Cx30. 2, a subunit for gap junctions with low conductance expressed in the atrioventricular canal and unaffected by the loss of Tbx2, did not affect the functionality of the accessory pathways.", "output": {"entities": {"gene": [{"text": "Cx30. 2", "start": 27, "end": 34}], "disease": [{"text": "atrioventricular canal", "start": 102, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "We investigated a C to T transition at base pair 2149 in the amyloid precursor protein gene in 41 Japanese cases of early-onset familial Alzheimer' s disease (FAD), late-onset FAD and sporadic Alzheimer' s disease (AD) by polymerase chain reaction and restriction enzyme polymorphism with BclI.", "output": {"entities": {"gene": [{"text": "FAD", "start": 159, "end": 162}], "disease": [{"text": "sporadic", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.", "output": {"entities": {"gene": [{"text": "Endothelin-3", "start": 0, "end": 12}], "disease": [{"text": "congenital central hypoventilation syndrome", "start": 36, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Endothelin-3", "start": 0, "end": 12}, "tail": {"text": "congenital central hypoventilation syndrome", "start": 36, "end": 79}}]}}, "schema": []}
{"input": "BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 178, "end": 182}], "disease": [{"text": "sporadic", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "This dissociation is completely sensitive to rapamycin (an mTOR inhibitor) but not wortmannin (a phosphoinositide 3-kinase [PI3K] inhibitor).", "output": {"entities": {"gene": [{"text": "PI3K", "start": 124, "end": 128}], "disease": [{"text": "dissociation", "start": 5, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Chest pain after intravenous corticotropin-releasing hormone.", "output": {"entities": {"gene": [{"text": "corticotropin-releasing hormone", "start": 29, "end": 60}], "disease": [{"text": "Chest pain", "start": 0, "end": 10}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "corticotropin-releasing hormone", "start": 29, "end": 60}, "tail": {"text": "Chest pain", "start": 0, "end": 10}}]}}, "schema": []}
{"input": "These results indicate that estrogen but not progestin modulates HER-2/neu protooncogene expression in these breast cancer cell lines and suggest that aggressiveness associated with high levels of HER-2/neu mRNA and protein may be uncoupled from estrogen-stimulated proliferation in these cells.", "output": {"entities": {"gene": [{"text": "HER-2/neu", "start": 65, "end": 74}], "disease": [{"text": "aggressiveness", "start": 151, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We propose and test a specific mechanism of neoplastic transformation, and genetic resistance, involving the MDV oncogene Meq, host gene products of the Nuclear Factor Kappa B (NF-κB) family and CD30; we also identify a novel Meq protein interactome.", "output": {"entities": {"gene": [{"text": "CD30", "start": 195, "end": 199}], "disease": [{"text": "neoplastic transformation", "start": 44, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Primary end points were flow-mediated dilation and high-sensitivity C-reactive protein (hs-CRP) levels; secondary end points were lipid and glucose parameters, homeostasis model assessment (HOMA) of insulin sensitivity, endothelial function score, and circulating levels of interleukin (IL)-6, IL-18, and adiponectin.", "output": {"entities": {"gene": [{"text": "CRP", "start": 91, "end": 94}], "disease": [{"text": "insulin sensitivity", "start": 199, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "In addition, we performed CNV analysis of individuals from 215 BD trios and identified de novo CNVs involving the NRXN1 and DRD5 genes.", "output": {"entities": {"gene": [{"text": "NRXN1", "start": 114, "end": 119}], "disease": [{"text": "BD", "start": 63, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRXN1", "start": 114, "end": 119}, "tail": {"text": "BD", "start": 63, "end": 65}}]}}, "schema": []}
{"input": "Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls.", "output": {"entities": {"gene": [{"text": "DIXDC1", "start": 12, "end": 18}], "disease": [{"text": "bipolar disorder", "start": 49, "end": 65}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DIXDC1", "start": 12, "end": 18}, "tail": {"text": "bipolar disorder", "start": 49, "end": 65}}]}}, "schema": []}
{"input": "CDK4, p27, and E2F-1 were positive in 60% (12 of 20), 25% (5 of 20), and 65% (13 of 20), respectively, in chondrosarcoma of the jaws.", "output": {"entities": {"gene": [{"text": "p27", "start": 6, "end": 9}], "disease": [{"text": "chondrosarcoma", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The homozygous Prkcqrpea1 and the null Prkcqtm1Litt mutants are reliable novel mouse models of RD and can also be used to study the effects of the disruption of PRKCQ (PKC & #952;) signaling in RPE cells.", "output": {"entities": {"gene": [{"text": "PRKCQ", "start": 161, "end": 166}], "disease": [{"text": "RD", "start": 95, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PRKCQ", "start": 161, "end": 166}, "tail": {"text": "RD", "start": 95, "end": 97}}]}}, "schema": []}
{"input": "Outcome in untransplanted DOCK8 deficient patients is poor because of frequent life-threatening infections, CNS bleeding and infarction, and increased susceptibility to malignancy.", "output": {"entities": {"gene": [{"text": "DOCK8", "start": 26, "end": 31}], "disease": [{"text": "infarction", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD).", "output": {"entities": {"gene": [{"text": "MKKS", "start": 27, "end": 31}], "disease": [{"text": "McKusick-Kaufman syndrome", "start": 0, "end": 25}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MKKS", "start": 27, "end": 31}, "tail": {"text": "McKusick-Kaufman syndrome", "start": 0, "end": 25}}]}}, "schema": []}
{"input": "We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 80, "end": 85}], "disease": [{"text": "sporadic", "start": 38, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.", "output": {"entities": {"gene": [{"text": "eIF2B", "start": 72, "end": 77}], "disease": [{"text": "leukoencephalopathy with vanishing white matter", "start": 88, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "eIF2B", "start": 72, "end": 77}, "tail": {"text": "leukoencephalopathy with vanishing white matter", "start": 88, "end": 135}}]}}, "schema": []}
{"input": "In this study, we analysed mutations in the NCCT gene of seven Japanese patients with GS.", "output": {"entities": {"gene": [{"text": "NCCT", "start": 44, "end": 48}], "disease": [{"text": "GS", "start": 86, "end": 88}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NCCT", "start": 44, "end": 48}, "tail": {"text": "GS", "start": 86, "end": 88}}]}}, "schema": []}
{"input": "PTHR1 mutations associated with Ollier disease result in receptor loss of function.", "output": {"entities": {"gene": [{"text": "PTHR1", "start": 0, "end": 5}], "disease": [{"text": "Ollier disease", "start": 32, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTHR1", "start": 0, "end": 5}, "tail": {"text": "Ollier disease", "start": 32, "end": 46}}]}}, "schema": []}
{"input": "Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second locus with either a homozygous or compound heterozygous variant in a candidate gene (myosin binding protein C, fast type [MYBPC2] and vacuolar protein sorting 8 [VPS8], 2 families, 4. 2%) or in another disease-associated genes (6 families, 12. 5%), indicating a potential mutational burden contributing to disease expression.", "output": {"entities": {"gene": [{"text": "VPS8", "start": 274, "end": 278}], "disease": [{"text": "arthrogryposis", "start": 57, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VPS8", "start": 274, "end": 278}, "tail": {"text": "arthrogryposis", "start": 57, "end": 71}}]}}, "schema": []}
{"input": "Eight network 2 genes (KIAA0101, HDAC2, SUMO1, RBBP4, NONO, RBBP7, HTRA2, and MTA2) were significantly differentially expressed in an array of 18 different sarcoma types.", "output": {"entities": {"gene": [{"text": "RBBP7", "start": 60, "end": 65}], "disease": [{"text": "sarcoma", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "All patients with classic Hallervorden-Spatz syndrome and one third of those with atypical disease had PANK2 mutations.", "output": {"entities": {"gene": [{"text": "PANK2", "start": 103, "end": 108}], "disease": [{"text": "Hallervorden-Spatz syndrome", "start": 26, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PANK2", "start": 103, "end": 108}, "tail": {"text": "Hallervorden-Spatz syndrome", "start": 26, "end": 53}}]}}, "schema": []}
{"input": "Rap1GAP is thought of as a putative tumor suppressor gene and plays an important role in human tumor progression including pancreatic cancer, thyroid cancer and melanoma.", "output": {"entities": {"gene": [{"text": "Rap1GAP", "start": 0, "end": 7}], "disease": [{"text": "melanoma", "start": 161, "end": 169}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rap1GAP", "start": 0, "end": 7}, "tail": {"text": "melanoma", "start": 161, "end": 169}}]}}, "schema": []}
{"input": "The NUP98-NSD1 fusion, product of the t (5; 11) (q35; p15. 5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 4, "end": 9}], "disease": [{"text": "chromosomal translocation", "start": 62, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "To determine whether mutations occur in the putative NBF of ALD protein, we analyzed by denaturing gradient gel electrophoresis (DGGE) exon 6 and 8 that encode most part of this domain in 50 ALD patients.", "output": {"entities": {"gene": [{"text": "ALD", "start": 60, "end": 63}], "disease": [{"text": "ALD", "start": 191, "end": 194}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ALD", "start": 60, "end": 63}, "tail": {"text": "ALD", "start": 191, "end": 194}}]}}, "schema": []}
{"input": "Blot rolling assays and flow-based adhesion assays using microbeads coated with CEA immunopurified from LS174T colon carcinoma cells and selectins as substrate reveal that CEA possesses E-and L-, but not P-, selectin ligand activity.", "output": {"entities": {"gene": [{"text": "CEA", "start": 80, "end": 83}], "disease": [{"text": "adhesion", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, results from this study suggest that impaired hepatic proteasome function by alcohol exposure may contribute to hepatic accumulation of RIP3 resulting in necroptosis and steatosis while RIP1 kinase activity is important for alcohol-induced inflammation.", "output": {"entities": {"gene": [{"text": "RIP3", "start": 151, "end": 155}], "disease": [{"text": "steatosis", "start": 185, "end": 194}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "RIP3", "start": 151, "end": 155}, "tail": {"text": "steatosis", "start": 185, "end": 194}}]}}, "schema": []}
{"input": "Six microRNAs (miR-9, miR-145, miR-150, miR-155, miR-203, and miR-205) were evaluated using real-time PCR in 11 patients with metastatic melanoma and in 16 patients without melanoma.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 22, "end": 29}], "disease": [{"text": "metastatic melanoma", "start": 126, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Relative to carriers of the wild type (Gly/Gly) ADD1 gene, patients carrying the mutated Trp ADD1 allele had higher blood pressure (systolic blood pressure (SBP) 143. 2 +/-1. 0 versus 140. 6 +/-0. 6 mmHg P = 0. 027 and diastolic blood pressure (DBP) 94. 2 +/-0. 77 versus 92. 3 +/-0. 5 mmHg, P = 0. 03), lower PRA and EO, consistent with the hypothesis of the renal sodium retaining effect of the Trp allele.", "output": {"entities": {"gene": [{"text": "DBP", "start": 245, "end": 248}], "disease": [{"text": "systolic blood pressure", "start": 132, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "We measured hcrtR1 and hcrtR2 expression in the frontal cortex and pons using the RT-PCR method in murine models (8-week-old and 27-week-old orexin/ataxin-3 transgenic (TG) hypocretin cell ablated mice and wild-type mice from the same litter, 10 mice for each group), in canine models (8 genetically narcoleptic Dobermans with null mutations in the hcrtR2, 9 control Dobermans, 3 sporadic ligand-deficient narcoleptics, and 4 small breed controls), and in humans (5 narcolepsy-cataplexy patients with hypocretin deficiency (average age 77. 0 years) and 5 control subjects (72. 6 years).", "output": {"entities": {"gene": [{"text": "hcrtR2", "start": 23, "end": 29}], "disease": [{"text": "sporadic", "start": 380, "end": 388}]}, "relations": {}}, "schema": []}
{"input": "Studies in two related patients with a partial trisomy 18p revealed three copies of the PACAP gene and elevated PACAP concentrations in plasma.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 88, "end": 93}], "disease": [{"text": "partial trisomy", "start": 39, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Methylation of sFRP1, 2, 5 and WIF-1 genes might serve as biomarkers for the early detection of colorectal tumor.", "output": {"entities": {"gene": [{"text": "sFRP1", "start": 15, "end": 20}], "disease": [{"text": "colorectal tumor", "start": 96, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sFRP1", "start": 15, "end": 20}, "tail": {"text": "colorectal tumor", "start": 96, "end": 112}}]}}, "schema": []}
{"input": "TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset).", "output": {"entities": {"gene": [{"text": "ADAMTS13", "start": 55, "end": 63}], "disease": [{"text": "neonatal onset", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "By using a rat model of bone cancer pain based on intratibial injection of MRMT-1 tumour cells, we documented a prominent decrease in expression of KCNQ2 and KCNQ3 proteins and a reduction of M-current density in small-sized dorsal root ganglia (DRG) neurons, which were associated with enhanced excitability of these DRG neurons and the hyperalgesic behaviours in bone cancer rats.", "output": {"entities": {"gene": [{"text": "DRG", "start": 246, "end": 249}], "disease": [{"text": "cancer pain", "start": 29, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "On the other hand, polymorphisms in XRCC1 codon 399 and codon 194 do not seem to play a role in the aetiology of smoking-related laryngeal SCC, once its distribution was similar in both analysed groups.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 36, "end": 41}], "disease": [{"text": "smoking", "start": 113, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation at the MGP locus could modulate the development of coronary artery calcification (CAC).", "output": {"entities": {"gene": [{"text": "CAC", "start": 100, "end": 103}], "disease": [{"text": "coronary artery calcification", "start": 69, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Analysis of somatic cell hybrids segregating the translocation chromosomes showed that the chromosome 11 breakpoint occurs within NUP98.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 130, "end": 135}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "All these data indicate that ERBB2 is a marker of aggressiveness of the tumour.", "output": {"entities": {"gene": [{"text": "ERBB2", "start": 29, "end": 34}], "disease": [{"text": "aggressiveness", "start": 50, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that airway epithelial cell ingestion of bacteria followed by cellular desquamation may protect the lung from infection, and epithelial cells expressing mutant forms of the cystic fibrosis transmembrane conductance regulator (CFTR) may be defective in this function.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 242, "end": 246}], "disease": [{"text": "desquamation", "start": 87, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "There was no relationship between p16 (INK4a) overexpression and inflammation or hormonal status.", "output": {"entities": {"gene": [{"text": "INK4a", "start": 39, "end": 44}], "disease": [{"text": "inflammation", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "CD4 + and CD8 + clonal T cell expansions indicate a role of antigens in ankylosing spondylitis; a study in HLA-B27 + monozygotic twins.", "output": {"entities": {"gene": [{"text": "CD4", "start": 0, "end": 3}], "disease": [{"text": "ankylosing spondylitis", "start": 72, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Through family studies and analysis of patients with congenital chromosome abnormalities, the germ-line mutation responsible for the hereditary form of the eye tumour, retinoblastoma, has been assigned to the q14 region on chromosome 13 and closely linked to an enzyme called esterase D (ESD).", "output": {"entities": {"gene": [{"text": "ESD", "start": 288, "end": 291}], "disease": [{"text": "chromosome abnormalities", "start": 64, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.", "output": {"entities": {"gene": [{"text": "MGC10986", "start": 116, "end": 124}], "disease": [{"text": "breast cancer", "start": 256, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MGC10986", "start": 116, "end": 124}, "tail": {"text": "breast cancer", "start": 256, "end": 269}}]}}, "schema": []}
{"input": "Tyrosine phosphorylation of paxillin, a biochemical marker of focal contact formation, was conserved upon serum starvation when MARCKS was overexpressed, while it was almost abolished in the control cells.", "output": {"entities": {"gene": [{"text": "MARCKS", "start": 128, "end": 134}], "disease": [{"text": "starvation", "start": 112, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Fgf8 (fibroblast growth factor 8) was initially cloned from a mouse mammary tumor cell line derived from the androgen-dependent Shionogi carcinoma 115.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor 8", "start": 6, "end": 32}], "disease": [{"text": "mammary tumor", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "By performing tests according to the Fisher product method (FPM), an association between HTR2A and the personality trait reward dependence could be shown.", "output": {"entities": {"gene": [{"text": "HTR2A", "start": 89, "end": 94}], "disease": [{"text": "personality trait", "start": 103, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that a disproportionate increase in CTGF relative to BNP in cardiac myocytes plays a central role in the induction of excessive myocardial fibrosis and diastolic heart failure.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 55, "end": 59}], "disease": [{"text": "myocardial fibrosis", "start": 147, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Thus, we explored the role of Mir-217 on inflammation and fibrosis in RMCs cultured with high glucose in vitro through Sirt1/HIF-1 & #945; signaling pathway.", "output": {"entities": {"gene": [{"text": "Mir-217", "start": 30, "end": 37}], "disease": [{"text": "inflammation", "start": 41, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Mir-217", "start": 30, "end": 37}, "tail": {"text": "inflammation", "start": 41, "end": 53}}]}}, "schema": []}
{"input": "In a screen of a large series of early colorectal adenomas, a precocious step during colorectal tumorigenesis, we identified 11 mutations in SMC1A core cohesin subunit.", "output": {"entities": {"gene": [{"text": "SMC1A", "start": 141, "end": 146}], "disease": [{"text": "tumorigenesis", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate.", "output": {"entities": {"gene": [{"text": "GNS", "start": 81, "end": 84}], "disease": [{"text": "MPS IIID", "start": 0, "end": 8}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNS", "start": 81, "end": 84}, "tail": {"text": "MPS IIID", "start": 0, "end": 8}}]}}, "schema": []}
{"input": "Transient overexpression of p65 subunit of NF-kappaB in PC-3 cells up-regulated CXCR4 receptor expression and increased the adhesion and TEM of these cells in response to SDF-1alpha gradient.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 43, "end": 52}], "disease": [{"text": "adhesion", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Ten mutations in the guanylate cyclase activator 1A (GUCA1A) have been previously identified and reported in patients with retinal degeneration, including patients from 12 families with cone-rod dystrophy (CORD) and in an isolated patient with retinitis pigmentosa (RP).", "output": {"entities": {"gene": [{"text": "GUCA1A", "start": 53, "end": 59}], "disease": [{"text": "retinal degeneration", "start": 123, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "We illustrate this method with three breast cancer susceptibility genotypes: population screening data evaluating the 185delAG mutation at BRCA1 and the 6174delT mutation at BRCA2 in a Ashkenazi Jewish population, and case control data for the slow acetylation genotype at the N-acetyl transferase 2 (NAT2) gene in combination with smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 301, "end": 305}], "disease": [{"text": "smoking", "start": 332, "end": 339}]}, "relations": {}}, "schema": []}
{"input": "In line with TERT expression being driven by active IRX2 regulatory elements, we found a high expression of IRX2 in CCSKs irrespective of fusion gene status.", "output": {"entities": {"gene": [{"text": "TERT", "start": 13, "end": 17}], "disease": [{"text": "CCSK", "start": 116, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TERT", "start": 13, "end": 17}, "tail": {"text": "CCSK", "start": 116, "end": 120}}]}}, "schema": []}
{"input": "Thus, TMEM106B is an FTLD-TDP risk gene, with microRNA-132/212 depression as an event which can lead to aberrant overexpression of TMEM106B, which in turn alters progranulin pathways.", "output": {"entities": {"gene": [{"text": "progranulin", "start": 162, "end": 173}], "disease": [{"text": "depression", "start": 63, "end": 73}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "progranulin", "start": 162, "end": 173}, "tail": {"text": "depression", "start": 63, "end": 73}}]}}, "schema": []}
{"input": "Some brain regions of the Polish FAD patients showed a massive increase of amyloid, such as the molecular layer of the cerebellum where a 7-and 25-fold increase was noted, compared with DS and sporadic AD patients respectively.", "output": {"entities": {"gene": [{"text": "FAD", "start": 33, "end": 36}], "disease": [{"text": "sporadic", "start": 193, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "Defective aldosterone receptor binding is present in pseudohypoaldosteronism, and sporadic as well as familial cases have been reported.", "output": {"entities": {"gene": [{"text": "aldosterone receptor", "start": 10, "end": 30}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Prompted by the observation of higher expression of Rac1b, an alternatively spliced Rac1 isoform, in pancreatic ductal epithelial cells and in patients with chronic pancreatitis vs. PDAC, as well as in long-time vs. short-time survivors among PDAC patients, we asked whether Rac1b might negatively affect TGF-β1 prometastatic function.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 52, "end": 56}], "disease": [{"text": "chronic pancreatitis", "start": 157, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "However, rats with chronic progressive nephropathy showed augmented renal content of angiotensinogen protein (13. 5 +/-3. 5 versus 2. 2 +/-0. 4 pixels in control rats; P & lt; 0. 05), enhanced expression of cathepsin D-a renin-like enzyme-in cortical collecting tubules (103. 5 +/-27. 0 versus 66. 2 +/-3. 6 cells/mm2 in controls; P & lt; 0. 01), and increased expression of AT1 receptor in interstitium (54. 7 +/-7. 8 versus 1. 3 +/-0. 4 cells/mm2 in controls; P & lt; 0. 001).", "output": {"entities": {"gene": [{"text": "cathepsin D", "start": 207, "end": 218}], "disease": [{"text": "nephropathy", "start": 39, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cathepsin D", "start": 207, "end": 218}, "tail": {"text": "nephropathy", "start": 39, "end": 50}}]}}, "schema": []}
{"input": "GAS impetigo may cause acute glomerulonephritis, but such infections do not result in ARF.", "output": {"entities": {"gene": [{"text": "ARF", "start": 86, "end": 89}], "disease": [{"text": "acute glomerulonephritis", "start": 23, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The protein expression of HA-Cyclin D1 were all reduced three days after infection by adding adenovirus expressing human Slug to PC-3 carrying pMIGW-Cyclin D1-HA vector compared to negative control, which is dose-dependent.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 129, "end": 133}], "disease": [{"text": "adenovirus", "start": 93, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Local expression of TNF-alpha (Th1) and IL-4 (Th2) in wart tissue was determined using in-situ hybridization technique.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 20, "end": 29}], "disease": [{"text": "wart", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "In endometrial complex, hyperplasia, and endometrioid adenocarcinoma, neoplastic proliferations associated with estrogen excess, the expression of EIG121 was significantly elevated (on average 3. 8-fold in hyperplasias and 21-fold in grade 1 tumors).", "output": {"entities": {"gene": [{"text": "EIG121", "start": 147, "end": 153}], "disease": [{"text": "hyperplasia", "start": 24, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "To test whether loss of Cav1 accelerates tumorigenesis, we generated a novel mouse model of CRC by crossing C57BL/6 Apc (min/+) with B6129 Cav1 knockout (Cav1-/-) mice.", "output": {"entities": {"gene": [{"text": "Cav1", "start": 24, "end": 28}], "disease": [{"text": "tumorigenesis", "start": 41, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "LST1 and NCR3 expression in autoimmune inflammation and in response to IFN-gamma, LPS and microbial infection.", "output": {"entities": {"gene": [{"text": "LST1", "start": 0, "end": 4}], "disease": [{"text": "inflammation", "start": 39, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "SSeCKS is down-regulated in many tumor types including prostate, and when re-expressed in MAT-LyLu (MLL) prostate cancer cells, SSeCKS selectively inhibits metastasis by suppressing neovascularization at distal sites, correlating with its ability to down-regulate proangiogenic genes including Vegfa.", "output": {"entities": {"gene": [{"text": "SSeCKS", "start": 0, "end": 6}], "disease": [{"text": "neovascularization", "start": 182, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in FAM126A, a gene of unknown function.", "output": {"entities": {"gene": [{"text": "FAM126A", "start": 97, "end": 104}], "disease": [{"text": "Hypomyelination and congenital cataract", "start": 0, "end": 39}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FAM126A", "start": 97, "end": 104}, "tail": {"text": "Hypomyelination and congenital cataract", "start": 0, "end": 39}}]}}, "schema": []}
{"input": "At the same time, we also examined the effect of hypoxia and reoxygenation on APP mRNA and protein levels.", "output": {"entities": {"gene": [{"text": "APP", "start": 78, "end": 81}], "disease": [{"text": "hypoxia", "start": 49, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The molecular characteristics of HERV-W env also differ from what was observed in Multiple Sclerosis (MS) and may represent distinct features of the genome of patients with BD and SZ.", "output": {"entities": {"gene": [{"text": "HERV-W env", "start": 33, "end": 43}], "disease": [{"text": "BD", "start": 173, "end": 175}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HERV-W env", "start": 33, "end": 43}, "tail": {"text": "BD", "start": 173, "end": 175}}]}}, "schema": []}
{"input": "Reduced NIS gene expression in thyroid cancer is likely due in part, to impaired trans-activation at the proximal promoter and/or the upstream enhancer.", "output": {"entities": {"gene": [{"text": "NIS", "start": 8, "end": 11}], "disease": [{"text": "thyroid cancer", "start": 31, "end": 45}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NIS", "start": 8, "end": 11}, "tail": {"text": "thyroid cancer", "start": 31, "end": 45}}]}}, "schema": []}
{"input": "We determined the function of Nox4 in situations of increased stress induced by ischemia or angiotensin II with global and tamoxifen-inducible Nox4 (-/-) mice.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 30, "end": 34}], "disease": [{"text": "ischemia", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Co-culture of allogeneic CD4 + T cells with OX40L-transduced leukaemia-DCs was superior in the generation of interferon (IFN)-gamma producing CD4 + T cells and in production of IFN-gamma.", "output": {"entities": {"gene": [{"text": "CD4", "start": 25, "end": 28}], "disease": [{"text": "leukaemia", "start": 61, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 (NAD (P) H steroid dehydrogenase-like protein) encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway.", "output": {"entities": {"gene": [{"text": "MIM", "start": 50, "end": 53}], "disease": [{"text": "nevus", "start": 136, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The incidence of IDC-P was significantly increased in BRCA2 carriers (42%, n = 33, p = 0. 004) but not in BRCAX patients (25. 8%, n = 62, p = 0. 102) when both groups were compared with sporadic cases (9%, n = 32).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 54, "end": 59}], "disease": [{"text": "sporadic", "start": 186, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase.", "output": {"entities": {"gene": [{"text": "kynureninase", "start": 89, "end": 101}], "disease": [{"text": "xanthurenic aciduria", "start": 33, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "kynureninase", "start": 89, "end": 101}, "tail": {"text": "xanthurenic aciduria", "start": 33, "end": 53}}]}}, "schema": []}
{"input": "The development of DNA-based methods for detection of unknown mutations and further characterization of ATM mutation pattern will facilitate identification of A-T carriers and assessment of their cancer risk.", "output": {"entities": {"gene": [{"text": "ATM", "start": 104, "end": 107}], "disease": [{"text": "A-T", "start": 159, "end": 162}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 104, "end": 107}, "tail": {"text": "A-T", "start": 159, "end": 162}}]}}, "schema": []}
{"input": "Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA, C, D2, E, F, G and BRCA2).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 154, "end": 159}], "disease": [{"text": "chromosomal instability", "start": 46, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that the up-regulation of STC2 gene expression resulting from abnormal α-klotho-Fgf23 signaling may contribute to limitation of ectopic calcification and thus STC2 represents a novel target gene for cardio-renal syndrome.", "output": {"entities": {"gene": [{"text": "Fgf23", "start": 102, "end": 107}], "disease": [{"text": "ectopic calcification", "start": 150, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "In this review we summarize the role of LTCCs for human diseases caused by genetic Ca2 + channel defects (channelopathies).", "output": {"entities": {"gene": [{"text": "Ca2", "start": 83, "end": 86}], "disease": [{"text": "channelopathies", "start": 106, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Cytokines participate in the development and progression of silicosis and PTB.", "output": {"entities": {"gene": [{"text": "PTB", "start": 74, "end": 77}], "disease": [{"text": "silicosis", "start": 60, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Here we evaluated the expression of the inducible co-stimulator (ICOS) on lung and blood CD4 (+) T cell subsets in sarcoidosis patients with different prognosis, by flow cytometry.", "output": {"entities": {"gene": [{"text": "CD4", "start": 89, "end": 92}], "disease": [{"text": "sarcoidosis", "start": 115, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.", "output": {"entities": {"gene": [{"text": "acid beta-galactosidase", "start": 116, "end": 139}], "disease": [{"text": "Morquio B disease", "start": 23, "end": 40}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid beta-galactosidase", "start": 116, "end": 139}, "tail": {"text": "Morquio B disease", "start": 23, "end": 40}}]}}, "schema": []}
{"input": "MATERIALS AND METHODS: Four groups were studied, which included 157 patients with HCC, 73 with liver cirrhosis (LC) and 97 with chronic hepatitis (CH), along with 80 healthy subjects.", "output": {"entities": {"gene": [{"text": "HCC", "start": 82, "end": 85}], "disease": [{"text": "chronic hepatitis", "start": 128, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, we have identified elevated expression of messenger ribonucleic acid encoding RANTES and monocyte chemotactic protein-3 in the bronchial mucosa of atopic asthmatic patients relative to controls.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 93, "end": 99}], "disease": [{"text": "atopic", "start": 162, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "We propose that increasing the activation of the cyclic AMP (cAMP)/protein kinase A signaling pathway will inhibit transforming growth factor-beta1 (TGF-β1)-induced ECM synthesis and myofibroblast formation and may provide a means to blunt fibrosis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 165, "end": 168}], "disease": [{"text": "fibrosis", "start": 240, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "BVVL and FL are severe progressive diseases with overlapping symptoms although only hRFT2 mutated patients manifest deafness.", "output": {"entities": {"gene": [{"text": "hRFT2", "start": 84, "end": 89}], "disease": [{"text": "deafness", "start": 116, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The aim of our study was to evaluate the influence of ischemic preconditioning on pancreatic regeneration and pancreatic presence of platelet-derived growth factor-A (PDGF-A) and vascular endothelial growth factor (VEGF) in the course of ischemia/reperfusion-induced pancreatitis.", "output": {"entities": {"gene": [{"text": "PDGF-A", "start": 167, "end": 173}], "disease": [{"text": "ischemia", "start": 238, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "To understand the molecular pathogenesis of colitis-associated colorectal neoplasia (UC-CRN), we studied the frequency of microsatellite instability (MSI) and mutations in p53, BRAF and KRAS genes in the tissues of patients with long standing UC with or without neoplasia and compared them with colitis patients without risk of neoplasia, and those with sporadic colorectal neoplasia (S-CRN) in an area with lower prevalence for either disease.", "output": {"entities": {"gene": [{"text": "p53", "start": 172, "end": 175}], "disease": [{"text": "sporadic", "start": 354, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "This study demonstrates for the first time that genetic variations in Na +, K +-ATPase are associated with BD, suggesting a role of this enzyme in the etiology of this disease.", "output": {"entities": {"gene": [{"text": "ATPase", "start": 80, "end": 86}], "disease": [{"text": "BD", "start": 107, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATPase", "start": 80, "end": 86}, "tail": {"text": "BD", "start": 107, "end": 109}}]}}, "schema": []}
{"input": "The extent of hyperalgesia was greater in KO versus WT mice, suggesting a role of CRF1 receptors in the upward modulation of endogenous opioid release.", "output": {"entities": {"gene": [{"text": "CRF1", "start": 82, "end": 86}], "disease": [{"text": "hyperalgesia", "start": 14, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CRF1", "start": 82, "end": 86}, "tail": {"text": "hyperalgesia", "start": 14, "end": 26}}]}}, "schema": []}
{"input": "The present study demonstrated that manifestation and disappearance of depression-like behavior are in parallel with increase and decrease in cortical neuronal excitability in mice and suggested that regulation of BK channels by Homer1a is involved in this parallelism.", "output": {"entities": {"gene": [{"text": "Homer1a", "start": 229, "end": 236}], "disease": [{"text": "depression", "start": 71, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Homer1a", "start": 229, "end": 236}, "tail": {"text": "depression", "start": 71, "end": 81}}]}}, "schema": []}
{"input": "Genetic polymorphism of the carcinogen metabolizing enzyme N-acetyl transferase 2 (NAT2) may influence susceptibility to bladder cancers related to smoking or to occupational exposure to arylamine carcinogens.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 83, "end": 87}], "disease": [{"text": "smoking", "start": 148, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Herein, we studied 10 combined cutaneous squamous cell and neuroendocrine carcinomas for immunohistochemical expression of p53, retinoblastoma 1 protein, neurofilament, p63, and cytokeratin 20 (CK20).", "output": {"entities": {"gene": [{"text": "CK20", "start": 194, "end": 198}], "disease": [{"text": "retinoblastoma", "start": 128, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Tumors samples were analyzed for methylation in LINE-1 and 16 CpG islands (CACNA1G, CDKN2A [p16], CRABP1, IGF2, MLH1, NEUROG1, RUNX3, SOCS1, CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14 [ARF], and WRN); microsatellite instability (MSI); the CpG island methylator phenotype (CIMP); 18q loss of heterozygosity; KRAS, BRAF, and PIK3CA mutations; and expression of beta-catenin, p53, p21, p27, cyclin D1, fatty acid synthase, and cyclooxygenase-2.", "output": {"entities": {"gene": [{"text": "SOCS1", "start": 134, "end": 139}], "disease": [{"text": "microsatellite instability", "start": 203, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest loss of function of IL36RN as the genetic basis of GPP and implicate innate immune dysregulation in this severe episodic inflammatory disease, thereby highlighting IL-1 signaling as a potential target for therapeutic intervention.", "output": {"entities": {"gene": [{"text": "IL36RN", "start": 43, "end": 49}], "disease": [{"text": "GPP", "start": 74, "end": 77}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IL36RN", "start": 43, "end": 49}, "tail": {"text": "GPP", "start": 74, "end": 77}}]}}, "schema": []}
{"input": "Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 24, "end": 33}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 72, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 24, "end": 33}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 72, "end": 110}}]}}, "schema": []}
{"input": "This study was carried out 1. to set up a method to examine the relative quantity of mRNA of CL-R, RAMP1, RAMP2 and RAMP3 in human coronary (CA), pulmonary (PA) and middle cerebral arteries (MCA), and 2. to examine the level of mRNA expression in cerebra-and cardiovascular diseases.", "output": {"entities": {"gene": [{"text": "RAMP3", "start": 116, "end": 121}], "disease": [{"text": "cardiovascular diseases", "start": 259, "end": 282}]}, "relations": {}}, "schema": []}
{"input": "MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia.", "output": {"entities": {"gene": [{"text": "MCIDAS", "start": 0, "end": 6}], "disease": [{"text": "primary ciliary dyskinesia", "start": 153, "end": 179}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCIDAS", "start": 0, "end": 6}, "tail": {"text": "primary ciliary dyskinesia", "start": 153, "end": 179}}]}}, "schema": []}
{"input": "The present study examined the prodynorphin and kappa opioid receptor mRNA expression levels in the anterior cingulate and dorsolateral prefrontal cortices of subjects diagnosed with schizophrenia, bipolar disorder, or major depression as compared with normal controls without a psychiatric diagnosis.", "output": {"entities": {"gene": [{"text": "prodynorphin", "start": 31, "end": 43}], "disease": [{"text": "major depression", "start": 219, "end": 235}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "prodynorphin", "start": 31, "end": 43}, "tail": {"text": "major depression", "start": 219, "end": 235}}]}}, "schema": []}
{"input": "Taken together, our results suggest that knockdown of AEG-1 could decrease EMT and chemoresistance in cervical cancer cells and attenuate their aggressive behavior.", "output": {"entities": {"gene": [{"text": "AEG-1", "start": 54, "end": 59}], "disease": [{"text": "aggressive behavior", "start": 144, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2. 66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 186, "end": 195}], "disease": [{"text": "haemophilia B", "start": 254, "end": 267}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 186, "end": 195}, "tail": {"text": "haemophilia B", "start": 254, "end": 267}}]}}, "schema": []}
{"input": "Thus, (1) IGF-1 enhances recovery from nephrotoxic ARF both functionally and histologically; (2) in nephrotoxic ARF, there is (a) a reduction in IGF-1 mRNA expression that is not prevented by IGF-1 infusion, and (b) an increase in renal IGFBP-1 mRNA.", "output": {"entities": {"gene": [{"text": "IGFBP-1", "start": 237, "end": 244}], "disease": [{"text": "ARF", "start": 51, "end": 54}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGFBP-1", "start": 237, "end": 244}, "tail": {"text": "ARF", "start": 51, "end": 54}}]}}, "schema": []}
{"input": "We report the genomic organization of ATP8B1 and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations.", "output": {"entities": {"gene": [{"text": "ATP8B1", "start": 38, "end": 44}], "disease": [{"text": "PFIC", "start": 88, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP8B1", "start": 38, "end": 44}, "tail": {"text": "PFIC", "start": 88, "end": 92}}]}}, "schema": []}
{"input": "The first sign of retinal degeneration was detected at the electron microscopic level around 3 weeks of age when occasional small lipid-like droplets were detected in the retinal pigment epithelium (RPE).", "output": {"entities": {"gene": [{"text": "RPE", "start": 199, "end": 202}], "disease": [{"text": "retinal degeneration", "start": 18, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we found that treatment of human brain endothelial cells with MIF had no effect on human monocyte adhesion to endothelium.", "output": {"entities": {"gene": [{"text": "MIF", "start": 75, "end": 78}], "disease": [{"text": "adhesion", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "A 773-bp fragment of the 6-Kbp DNA segment increased downstream gene expression eightfold, suggesting that triplication of this sequence may lead to dysregulation of the downstream gene, MMP19, in CODA patients.", "output": {"entities": {"gene": [{"text": "MMP19", "start": 187, "end": 192}], "disease": [{"text": "CODA", "start": 197, "end": 201}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MMP19", "start": 187, "end": 192}, "tail": {"text": "CODA", "start": 197, "end": 201}}]}}, "schema": []}
{"input": "They demonstrate that MTP is a target of the transcription factor FoxO1 and that excessive VLDL production associated with insulin resistance is caused by the inability of insulin to regulate FoxO1 transcriptional activation of MTP.", "output": {"entities": {"gene": [{"text": "MTP", "start": 22, "end": 25}], "disease": [{"text": "insulin resistance", "start": 123, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Human immunodeficiency virus-infected macaques exhibited plasma viremia (≥ 10 (8) copies/ml) followed by a precipitous CD4 (+) T-cell (from 40-70 to ≤ 5%) decline.", "output": {"entities": {"gene": [{"text": "CD4", "start": 119, "end": 122}], "disease": [{"text": "viremia", "start": 64, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Thus, both increased wild-type ATAXIN1 levels and PUM1 haploinsufficiency could contribute to human neurodegeneration.", "output": {"entities": {"gene": [{"text": "PUM1", "start": 50, "end": 54}], "disease": [{"text": "neurodegeneration", "start": 100, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Since approximately 20% of Caucasian patients with HNF-1alpha mutations have been shown to be obese or overweight, we also examined the association of genetic variations in TCF1 with body weight in Japanese subjects.", "output": {"entities": {"gene": [{"text": "TCF1", "start": 173, "end": 177}], "disease": [{"text": "body weight", "start": 183, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Immunoblotting confirmed HIF-1α, Ets-1, VEGF and MMP-2 are up-regulated in HASMC exposed to hypoxia (p < 0. 05), while transcription for MMP-1, MT-MMP-1, MMP-9, MMP-2 and MMP-7 (p < 0. 05) increased in hypoxic HASMCs.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 33, "end": 38}], "disease": [{"text": "hypoxic", "start": 202, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 26, "end": 30}], "disease": [{"text": "Marfan syndrome", "start": 58, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 26, "end": 30}, "tail": {"text": "Marfan syndrome", "start": 58, "end": 73}}]}}, "schema": []}
{"input": "We found that in hepatocellular carcinomas, in the late glycogen-poor passages (C1I (late)), and in the tumorigenic subline (C1Ict) of C1I cells, and in MH3924A cells the mRNA expression of inhibitor-1 is significantly increased.", "output": {"entities": {"gene": [{"text": "inhibitor-1", "start": 190, "end": 201}], "disease": [{"text": "hepatocellular carcinomas", "start": 17, "end": 42}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "inhibitor-1", "start": 190, "end": 201}, "tail": {"text": "hepatocellular carcinomas", "start": 17, "end": 42}}]}}, "schema": []}
{"input": "WISPs may play important but contrasting roles in colorectal cancer with WISP-1 appearing to act as a factor stimulating aggressiveness, WISP-2 as a tumour suppressor and WISP-3 having no definable beneficial or detrimental role.", "output": {"entities": {"gene": [{"text": "WISP-1", "start": 73, "end": 79}], "disease": [{"text": "aggressiveness", "start": 121, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Recently, we have demonstrated that the adenoviral vector is able to deliver the β-defensin 2 gene to the middle ear epithelial cells in vitro and in vivo, and adenovirus-mediated overexpression of β-defensin 2 is protective for experimental OM.", "output": {"entities": {"gene": [{"text": "β-defensin 2", "start": 81, "end": 93}], "disease": [{"text": "adenovirus", "start": 160, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that APP/SOD1 overexpressing mice are less sensitive for neuropathic pain associated with neuroma.", "output": {"entities": {"gene": [{"text": "APP", "start": 26, "end": 29}], "disease": [{"text": "neuroma", "start": 111, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair.", "output": {"entities": {"gene": [{"text": "P2RY5", "start": 57, "end": 62}], "disease": [{"text": "hypotrichosis simplex", "start": 151, "end": 172}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "P2RY5", "start": 57, "end": 62}, "tail": {"text": "hypotrichosis simplex", "start": 151, "end": 172}}]}}, "schema": []}
{"input": "Novel MRI techniques may aid in the in vivo assessment of acute plaque inflammation in humans.", "output": {"entities": {"gene": [{"text": "MRI", "start": 6, "end": 9}], "disease": [{"text": "inflammation", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "In vitro, periostin increased proliferation, adhesion, migration, and collagen production in RPE cells through integrin αV-mediated FAK and AKT phosphorylation.", "output": {"entities": {"gene": [{"text": "RPE", "start": 93, "end": 96}], "disease": [{"text": "adhesion", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "A significant association was found between MPL-mutant allele burden greater than 50% and marrow fibrosis.", "output": {"entities": {"gene": [{"text": "MPL", "start": 44, "end": 47}], "disease": [{"text": "fibrosis", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "DNA double-strand break (DSB) induction and its repair kinetics in lymphocytes of head-and-neck cancer patients undergoing chemoradiation therapy was analyzed by counting γ-H2AX foci, neutral comet assay, and a modified version of neutral filter elution assay.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 173, "end": 177}], "disease": [{"text": "neck cancer", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that human airway smooth muscle cells (HASMCs) participate in linking inflammation with remodeling and that associated genes become differentially suppressed by ambrisentan (A-receptor selective ETRA) and bosentan (nonselective/dual ETRA).", "output": {"entities": {"gene": [{"text": "ETRA", "start": 211, "end": 215}], "disease": [{"text": "inflammation", "start": 86, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Expression of CD1 molecules has been observed on endoneurial machrophages in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and vasculitis and polymorphisms of CID1A and CD1E genes have been associated with susceptibility to develop Guillain-Barré syndrome.", "output": {"entities": {"gene": [{"text": "CD1", "start": 14, "end": 17}], "disease": [{"text": "chronic inflammatory demyelinating polyneuropathy", "start": 91, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "During adenovirus infection, NHEJ is inhibited by viral proteins E4 34k and E1B 55k, which redirect the Cul5/Rbx1/Elongin BC ubiquitin E3 ligase to polyubiquitinate and promote degradation of ligase IV.", "output": {"entities": {"gene": [{"text": "Rbx1", "start": 109, "end": 113}], "disease": [{"text": "adenovirus infection", "start": 7, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "We assessed alcohol intake using self-reported drink-units/day and conventional alcohol abuse biomarkers (serum γ-glutamyltrasferase [GGT] and mean corpuscular volume of erythrocytes [MCV]).", "output": {"entities": {"gene": [{"text": "GGT", "start": 134, "end": 137}], "disease": [{"text": "alcohol intake", "start": 12, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Severe fibrotic liver tissues from patients had increased levels of phosphorylated PERK and reduced levels of HNRNPA1 in HSCs, compared with mild fibrotic liver tissues.", "output": {"entities": {"gene": [{"text": "PERK", "start": 83, "end": 87}], "disease": [{"text": "mild", "start": 141, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "This hypothesis may explain why psoriasin expression is highest in high-grade and/or estrogen receptor-negative tumors, as these are associated with increased hypoxia and ROS, a setting in which the angiogenic effects of psoriasin are most important.", "output": {"entities": {"gene": [{"text": "psoriasin", "start": 32, "end": 41}], "disease": [{"text": "hypoxia", "start": 159, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "We found no association between E-selectin or P-selectin polymorphisms and premature birth, nor did we find any association between E-selectin or P-selectin and early postnatal sepsis or bronchopulmonary dysplasia.", "output": {"entities": {"gene": [{"text": "E-selectin", "start": 32, "end": 42}], "disease": [{"text": "premature birth", "start": 75, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.", "output": {"entities": {"gene": [{"text": "PHLDA2", "start": 192, "end": 198}], "disease": [{"text": "alcohol dependence", "start": 240, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PHLDA2", "start": 192, "end": 198}, "tail": {"text": "alcohol dependence", "start": 240, "end": 258}}]}}, "schema": []}
{"input": "Rescuing nerve injury-induced reduction of Kv1. 2 in the injured L5 DRG attenuated the development and maintenance of SNL-induced pain hypersensitivity without affecting acute pain and locomotor function.", "output": {"entities": {"gene": [{"text": "SNL", "start": 118, "end": 121}], "disease": [{"text": "hypersensitivity", "start": 135, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "The data indicate that CIN genomes harbor unfixed mutations in addition to human papilloma virus infection but require additional driver hits such as PIK3CA, TP53, STK11 and MAPK1 mutations for CSCC progression.", "output": {"entities": {"gene": [{"text": "MAPK1", "start": 174, "end": 179}], "disease": [{"text": "human papilloma virus infection", "start": 75, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The position of the chromosome translocation breakpoints are shown to be restricted to introns 7-10 of the EWS gene and widely dispersed within introns 3-9 of the Ets-related genes.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 107, "end": 115}], "disease": [{"text": "chromosome translocation", "start": 20, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Six cases came from families with linkage to HPC-1, 3 were known to have linkage to Xq27-28, and 4 had no linkage to a known locus; 7 cases were analyzed from patients who showed no known linkage (sporadic tumors) as controls.", "output": {"entities": {"gene": [{"text": "HPC-1", "start": 45, "end": 50}], "disease": [{"text": "sporadic", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "The phosphatidylinositol 3-kinase delta (PI3-K delta), a member of the PI3K class IA family, has been implicated in the regulation of inflammation since it is predominantly expressed in leukocytes.", "output": {"entities": {"gene": [{"text": "PI3", "start": 41, "end": 44}], "disease": [{"text": "inflammation", "start": 134, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "The current study is focused on the antitumor effect of TSLC1-armed survivin-regulated oncolytic adenovirus for HCC and to explore their molecular mechanism.", "output": {"entities": {"gene": [{"text": "HCC", "start": 112, "end": 115}], "disease": [{"text": "adenovirus", "start": 97, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Elevated levels of CRP are produced in response to inflammatory cytokines and are associated with atherosclerosis, hypertension, cardiovascular disease and insulin resistance.", "output": {"entities": {"gene": [{"text": "CRP", "start": 19, "end": 22}], "disease": [{"text": "insulin resistance", "start": 156, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Egr-1-deficient mice accumulated lower levels of phosphacan RNA and protein than wild-type mice after stroke, but there were no measurable differences in neurite outgrowth toward the infarct area between the two groups.", "output": {"entities": {"gene": [{"text": "phosphacan", "start": 49, "end": 59}], "disease": [{"text": "infarct", "start": 183, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "The majority of sporadic cancers exhibit loss of p53 activity due to mutations or deletions of TP53, and alterations in its signaling pathway.", "output": {"entities": {"gene": [{"text": "TP53", "start": 95, "end": 99}], "disease": [{"text": "sporadic", "start": 16, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "After studying ten unrelated acrodysostosis cases, we report here de novo PRKAR1A mutations in five out of the ten individuals (we found c. 1102C & gt; T [p. Arg368 (& #8727;)] in four of the ten and c. 1117T & gt; C [p. Tyr373His] in one of the ten).", "output": {"entities": {"gene": [{"text": "PRKAR1A", "start": 74, "end": 81}], "disease": [{"text": "acrodysostosis", "start": 29, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PRKAR1A", "start": 74, "end": 81}, "tail": {"text": "acrodysostosis", "start": 29, "end": 43}}]}}, "schema": []}
{"input": "Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 59, "end": 68}], "disease": [{"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 59, "end": 68}, "tail": {"text": "Epidermolytic palmoplantar keratoderma", "start": 0, "end": 38}}]}}, "schema": []}
{"input": "Th2 cells produce cytokines (IL-4, IL-10 and IL-13) that are crucial for control of extracellular helminthic infections and promote atopic and allergic diseases.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 45, "end": 50}], "disease": [{"text": "atopic", "start": 132, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "The underlying genetic abnormalities in familial combined hyperlipidemia (FCH) have not been elucidated, although previous association and linkage studies have implicated the apoA-I/C-III/A-IV gene cluster.", "output": {"entities": {"gene": [{"text": "IV gene", "start": 190, "end": 197}], "disease": [{"text": "familial combined hyperlipidemia", "start": 40, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "The deletions of Rb, ARHI, and FAT, as well as amplification of N-myc, FASL, GITRL, and EGFR, may be the crucial factors for tumorigenesis and the aggressive biological behavior of PPNET.", "output": {"entities": {"gene": [{"text": "GITRL", "start": 77, "end": 82}], "disease": [{"text": "tumorigenesis", "start": 125, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "These results emphasize the necessity of considering the complete DNA sequencing of the SLC26A4 gene in molecular diagnosis of deafness, especially when phenotypes such as congenital, invariable, and progressive hearing loss with EVA are present.", "output": {"entities": {"gene": [{"text": "EVA", "start": 230, "end": 233}], "disease": [{"text": "deafness", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "None of the tested DENND1A variants were associated with PCOS features (hirsutism, insulin sensitivity, menses pattern, free testosterone, and free androgen index).", "output": {"entities": {"gene": [{"text": "DENND1A", "start": 19, "end": 26}], "disease": [{"text": "insulin sensitivity", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "We investigated the role of genetic variation in CD40 and CD40L genes in subclinical atherosclerosis assessed by coronary artery calcification (CAC) and carotid intima-media thickness in 620 individuals from 230 families in the DHS.", "output": {"entities": {"gene": [{"text": "CAC", "start": 144, "end": 147}], "disease": [{"text": "coronary artery calcification", "start": 113, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "PPP3CC", "start": 210, "end": 216}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PPP3CC", "start": 210, "end": 216}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "We searched in Pubmed and Embase for studies evaluating the association between the-159C/T gene polymorphism and tuberculosis risk.", "output": {"entities": {"gene": [{"text": "T gene", "start": 89, "end": 95}], "disease": [{"text": "tuberculosis", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.", "output": {"entities": {"gene": [{"text": "RNF168", "start": 62, "end": 68}], "disease": [{"text": "telangiectasia", "start": 116, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Tumor samples from 61 patients with pathologically confirmed epithelial ovarian adenocarcinoma with matched clinicopathologic features were studied, including 18 with BRCA1 founder mutations, 16 with BRCA2 founder mutations, and 27 without either founder mutation (termed sporadic cancers).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 200, "end": 205}], "disease": [{"text": "sporadic", "start": 272, "end": 280}]}, "relations": {}}, "schema": []}
{"input": "Nine genes were identified (false discovery rate < 0. 1) that were regulated by NME1 in both the WM1158 and WRO82 cell lines, each possessing one or more such metastasis-relevant activities as stress fiber formation and focal adhesion (PPM1E, ZYX, PFN1), chemotaxis (CCR1) epithelial-mesenchymal signaling (WNT6), differentiation and morphogenesis (TBX4, ZFP36L2), and G protein modulation (GPR52 and PFN1).", "output": {"entities": {"gene": [{"text": "GPR52", "start": 391, "end": 396}], "disease": [{"text": "metastasis", "start": 159, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, there was also complete loss of MSH2/MSH6 in a distinct focus of 20 colonic crypts that were morphologically non-neoplastic, thus supporting the possibility of biallelic loss of MMR before initiation of neoplasia.", "output": {"entities": {"gene": [{"text": "MMR", "start": 193, "end": 196}], "disease": [{"text": "non-neoplastic", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "When compared to WRN-mutant WS, LMNA-mutant atypical WS patients appear to show earlier onset and possibly more severe ageing-related symptoms.", "output": {"entities": {"gene": [{"text": "LMNA", "start": 32, "end": 36}], "disease": [{"text": "ageing", "start": 119, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "PDGFA was expressed within tumour cells in primary DSRT specimens, but it was absent in Wilms tumours expressing WT1 and Ewing sarcomas with an EWS-Fli translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 144, "end": 147}], "disease": [{"text": "translocation", "start": 152, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "AGAT enzyme activity was detectable in both human and rat myocardia and was elevated in heart failure.", "output": {"entities": {"gene": [{"text": "AGAT", "start": 0, "end": 4}], "disease": [{"text": "heart failure", "start": 88, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AGAT", "start": 0, "end": 4}, "tail": {"text": "heart failure", "start": 88, "end": 101}}]}}, "schema": []}
{"input": "We investigated inhibitory and activation motif expression of killer immunoglobulin-like receptor (KIR) by natural killer (NK) cells, which may be pathogenetically involved in endometriosis.", "output": {"entities": {"gene": [{"text": "KIR", "start": 99, "end": 102}], "disease": [{"text": "endometriosis", "start": 176, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Multivariate logistic regression analysis showed HOMA-IR index and International Normalization Ratio independently associated with fibrosis in CHC; in HCC, HbA1c, cholesterol and bilirubin were independently associated with fibrosis.", "output": {"entities": {"gene": [{"text": "HCC", "start": 151, "end": 154}], "disease": [{"text": "fibrosis", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In summary, in vivo MT from melanoma patients contain public TRB as well as T cells with specificity for characterized melanoma antigens.", "output": {"entities": {"gene": [{"text": "TRB", "start": 61, "end": 64}], "disease": [{"text": "melanoma", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "SET7 was required for GATA1-induced breast tumor angiogenesis and growth in nude mice.", "output": {"entities": {"gene": [{"text": "GATA1", "start": 22, "end": 27}], "disease": [{"text": "tumor angiogenesis", "start": 43, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Annexin A11-positive protein aggregates were abundant in spinal cord motor neurons and hippocampal neuronal axons in an ALS patient carrying the p. D40G mutation.", "output": {"entities": {"gene": [{"text": "Annexin A11", "start": 0, "end": 11}], "disease": [{"text": "ALS", "start": 120, "end": 123}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Annexin A11", "start": 0, "end": 11}, "tail": {"text": "ALS", "start": 120, "end": 123}}]}}, "schema": []}
{"input": "RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.", "output": {"entities": {"gene": [{"text": "RSPH3", "start": 0, "end": 5}], "disease": [{"text": "Primary Ciliary Dyskinesia", "start": 22, "end": 48}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RSPH3", "start": 0, "end": 5}, "tail": {"text": "Primary Ciliary Dyskinesia", "start": 22, "end": 48}}]}}, "schema": []}
{"input": "Stratified analyses and interaction models, using generalized estimating equations (GEEs), were used to explore interactions between lead and hemoglobin, and DRD2 Taq IA categories [homozygous variant (A1) vs. presence of wild-type allele (A2)].", "output": {"entities": {"gene": [{"text": "DRD2", "start": 158, "end": 162}], "disease": [{"text": "hemoglobin", "start": 142, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "Since there is no previous report that supports a possible role of GRO-α/CXCR2 receptor complex during inflammation and neovascularization existing in the autoimmune disease Sjögren' s syndrome (SS), in this study, we examined CXCR2 and its ligand GRO-α expression in SS tissues.", "output": {"entities": {"gene": [{"text": "CXCR2", "start": 73, "end": 78}], "disease": [{"text": "autoimmune disease", "start": 155, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that ERK1/2 pathway is involved in the up-regulation of VEGF expression ionizing radiation mediated by AP-1, which may lead to further neovascularization and proliferation of glioblastoma cells resistant to radiation therapy.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 125, "end": 129}], "disease": [{"text": "neovascularization", "start": 157, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "We found that hypoxia significantly enhances the inflammatory effect of CD40L in both endothelial and monocytic cells (THP1).", "output": {"entities": {"gene": [{"text": "THP1", "start": 119, "end": 123}], "disease": [{"text": "hypoxia", "start": 14, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Expansion and contraction of HIV-specific CD4 T cells with short bursts of viremia, but physical loss of the majority of these cells with sustained viral replication.", "output": {"entities": {"gene": [{"text": "CD4", "start": 42, "end": 45}], "disease": [{"text": "viremia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that therapeutic upregulation of hypermethylated in cancer 1 may provide an important means of targeting ecotropic viral integration site 1-positive cancers.", "output": {"entities": {"gene": [{"text": "viral integration site 1", "start": 130, "end": 154}], "disease": [{"text": "cancers", "start": 164, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "The expression analysis of XCI-related genes revealed that the XIST and SATB1 expression was downregulated in 36% and 46% of 11 leiomyoma specimens, respectively, while the HNRNPU and SMCHD1 expression was not altered.", "output": {"entities": {"gene": [{"text": "SMCHD1", "start": 184, "end": 190}], "disease": [{"text": "leiomyoma", "start": 128, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Connective tissue growth factor increased by hypoxia may initiate angiogenesis in collaboration with matrix metalloproteinases.", "output": {"entities": {"gene": [{"text": "Connective tissue growth factor", "start": 0, "end": 31}], "disease": [{"text": "hypoxia", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, GSTP1 A/G gene polymorphism is not associated with the susceptibility of squamous cell carcinomas, adenocarcinomas, small cell carcinoma, non-small cell carcinoma or large cell carcinoma.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 15, "end": 20}], "disease": [{"text": "small cell carcinoma", "start": 131, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Consistent comigration of the rearranged EWS and WT1 bands in multiple enzyme digests indicated fusion of the genomic sequences, presumably due to the translocation t (11; 22) (p13; q12).", "output": {"entities": {"gene": [{"text": "EWS", "start": 41, "end": 44}], "disease": [{"text": "translocation", "start": 151, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "The t (11; 22) (p13; q12) chromosomal translocation that defines DSRT produces a chimaeric protein containing the potential transactivation domain of the Ewing-sarcoma protein (EWS) fused to zinc fingers 2-4 of the Wilms tumour suppressor and transcriptional repressor WT1 (refs 2, 3).", "output": {"entities": {"gene": [{"text": "EWS", "start": 177, "end": 180}], "disease": [{"text": "chromosomal translocation", "start": 26, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 88, "end": 97}], "disease": [{"text": "hemophilia B", "start": 22, "end": 34}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 88, "end": 97}, "tail": {"text": "hemophilia B", "start": 22, "end": 34}}]}}, "schema": []}
{"input": "A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.", "output": {"entities": {"gene": [{"text": "NRAS", "start": 14, "end": 18}], "disease": [{"text": "Schimmelpenning syndrome", "start": 46, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NRAS", "start": 14, "end": 18}, "tail": {"text": "Schimmelpenning syndrome", "start": 46, "end": 70}}]}}, "schema": []}
{"input": "Whereas CDC25A overexpression is observed in various human cancer tissues, it has not been determined whether deregulated CDC25A expression triggers or promotes tumorigenesis in vivo.", "output": {"entities": {"gene": [{"text": "CDC25A", "start": 8, "end": 14}], "disease": [{"text": "tumorigenesis", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "A total of four single nucleotide polymorphisms (SNPs) in the genes UCP1, UCP2, UCP3, and ADRB1 were examined for association with obesity and insulin sensitivity (HOMA (IR)) in obese (n = 292) and healthy non-obese (n = 481) females.", "output": {"entities": {"gene": [{"text": "UCP1", "start": 68, "end": 72}], "disease": [{"text": "insulin sensitivity", "start": 143, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Secondary objectives are to identify potential mechanisms for ROS increases and to evaluate whether ROS increase uncoupling protein (UCP)-2, a mitochondrial protein that promotes ATP depletion and necrosis.", "output": {"entities": {"gene": [{"text": "UCP", "start": 133, "end": 136}], "disease": [{"text": "necrosis", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "Seven dysplastic ACF harbored beta-catenin mutations at codon 32, 34, or 36 in exon 2, and one had an Apc mutation at the boundary of intron 10 and exon 11.", "output": {"entities": {"gene": [{"text": "beta-catenin", "start": 30, "end": 42}], "disease": [{"text": "ACF", "start": 17, "end": 20}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "beta-catenin", "start": 30, "end": 42}, "tail": {"text": "ACF", "start": 17, "end": 20}}]}}, "schema": []}
{"input": "Phenotypically, papF and papG mediate digalactoside [alpha-D-Galp-(1----4)-beta-D-Galp)-specific adhesion.", "output": {"entities": {"gene": [{"text": "Galp", "start": 61, "end": 65}], "disease": [{"text": "adhesion", "start": 97, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "We undertook this study to explore the importance of PAR-2 activation in 4 murine models of arthritis and to analyze the expression of PAR-2 in human arthritic synovium.", "output": {"entities": {"gene": [{"text": "PAR", "start": 53, "end": 56}], "disease": [{"text": "arthritis", "start": 92, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We examined whether common single nucleotide polymorphisms (SNPs) in the AQP7 gene modulate the risk of obesity and related abnormalities.", "output": {"entities": {"gene": [{"text": "AQP7 gene", "start": 73, "end": 82}], "disease": [{"text": "abnormalities", "start": 124, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: The combination of the IL-13, IL-13Rα1, and CTLA4 polymorphisms was selected through MDR analysis of the data pertaining to children with atopic and non-atopic asthma (accuracy = 0. 5459, cross validation consistency (CVC) = 10/10).", "output": {"entities": {"gene": [{"text": "IL-13", "start": 32, "end": 37}], "disease": [{"text": "atopic", "start": 147, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "The observation that breast tumors arising in a double heterozygote show biallelic inactivation of either BRCA1 or BRCA2, but not both, suggests that these genetic events are functionally equivalent in initiating tumorigenesis.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 115, "end": 120}], "disease": [{"text": "tumorigenesis", "start": 213, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "To clarify the role of inflammation in the pathogenesis of small vessel disease of the brain, we investigated the association between common variation in the C-reactive protein (CRP) and interleukin (IL)-6 genes, plasma CRP and IL6 levels, and presence of MRI-defined white matter lesions (WML) and brain infarcts (BI) in elderly participants of the Cardiovascular Health Study.", "output": {"entities": {"gene": [{"text": "MRI", "start": 256, "end": 259}], "disease": [{"text": "inflammation", "start": 23, "end": 35}]}, "relations": {}}, "schema": []}
{"input": "Two distinct deleterious mutations (c. 502A & gt; G and c. 666_676 + 1del12) identified in an unrelated PN patient confirmed that the C16orf57 gene is responsible for PN.", "output": {"entities": {"gene": [{"text": "C16orf57", "start": 134, "end": 142}], "disease": [{"text": "PN", "start": 104, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "C16orf57", "start": 134, "end": 142}, "tail": {"text": "PN", "start": 104, "end": 106}}]}}, "schema": []}
{"input": "Similarly, high CPE-ΔN mRNA copy numbers in resected pheochromocytomas/paragangliomas (PHEOs/PGLs), rare neuroendocrine tumors, accurately predicted future metastasis or recurrence.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 93, "end": 97}], "disease": [{"text": "metastasis", "start": 156, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "Three single nucleotide polymorphisms (SNPs) of LPL designated as Ser447stop, HindIII and PvuII were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method in 273 prostate cancer patients, 205 benign prostatic hyperplasia (BPH) patients and 230 male controls.", "output": {"entities": {"gene": [{"text": "LPL", "start": 48, "end": 51}], "disease": [{"text": "benign prostatic hyperplasia", "start": 229, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "The negative effects of smoke on birth weight is more marked in AK11 mothers than in AK1 * 2 carriers.", "output": {"entities": {"gene": [{"text": "AK1", "start": 64, "end": 67}], "disease": [{"text": "birth weight", "start": 33, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "However, it is unclear whether the NF-κB/intercellular adhesion molecule-1 (ICAM-1) pathway is involved in the adhesion of neutrophils and renal injury after hypoxia-ischemia (HI) in neonates.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 35, "end": 40}], "disease": [{"text": "adhesion", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Increased activity of GGT correlates with adverse prognosis in patients with breast cancer.", "output": {"entities": {"gene": [{"text": "GGT", "start": 22, "end": 25}], "disease": [{"text": "breast cancer", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "High ANCCA expression was positively correlated with the International Federation of Gynecology and Obstetrics (FIGO) stage, histological grade, depth of myometrial invasion, lymph node metastasis, lymph vascular space involvement, and recurrence but not with age and histological type.", "output": {"entities": {"gene": [{"text": "ANCCA", "start": 5, "end": 10}], "disease": [{"text": "lymph node metastasis", "start": 175, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "We identified three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 51, "end": 56}], "disease": [{"text": "Myhre syndrome", "start": 121, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMAD4", "start": 51, "end": 56}, "tail": {"text": "Myhre syndrome", "start": 121, "end": 135}}]}}, "schema": []}
{"input": "However, the protein expression of TLR3 and TLR4 was significantly increased in depressed suicide victims, but not in depressed non-suicide subjects compared with controls.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 44, "end": 48}], "disease": [{"text": "suicide", "start": 90, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "In our series, we did not find an association between SSNHL and abnormal levels of antithrombin III, protein C, protein S, D-dimer, or fibrinogen; activated protein C resistance; or factor V G1691A, prothrombin G20210A, or MTHFR C677T mutations.", "output": {"entities": {"gene": [{"text": "antithrombin III", "start": 83, "end": 99}], "disease": [{"text": "fibrinogen", "start": 135, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Kv1. 3 voltage-gated K (+) channel subunit as a potential diagnostic marker and therapeutic target for breast cancer.", "output": {"entities": {"gene": [{"text": "Kv1. 3", "start": 0, "end": 6}], "disease": [{"text": "breast cancer", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "This enabled us to dissect the molecular functions of intracellular and extracellular LOXL2s and examine their contributions to breast cancer metastasis/invasion.", "output": {"entities": {"gene": [{"text": "LOXL2", "start": 86, "end": 91}], "disease": [{"text": "breast cancer", "start": 128, "end": 141}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LOXL2", "start": 86, "end": 91}, "tail": {"text": "breast cancer", "start": 128, "end": 141}}]}}, "schema": []}
{"input": "distinct clones of translocation) was found among cervical carcinoma at the different stages (IB1, IIA and IIB).", "output": {"entities": {"gene": [{"text": "IB1", "start": 94, "end": 97}], "disease": [{"text": "translocation", "start": 19, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that hypermethylation of HOXB13 is a late event of breast tumorigenesis and a poor prognostic indicator of node-positive cancer patients.", "output": {"entities": {"gene": [{"text": "HOXB13", "start": 47, "end": 53}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "This study explored the polymorphisms of TIM3 gene in 535 patients with HBV-related liver diseases including 213 chronic hepatitis, 178 cirrhosis and 144 HCC, 72 HBV infection resolvers and 182 healthy controls and analyzed the effects of these polymorphisms on the disease susceptibility and HCC traits.", "output": {"entities": {"gene": [{"text": "HCC", "start": 154, "end": 157}], "disease": [{"text": "chronic hepatitis", "start": 113, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "An mtDNA mutation, 14453G--& gt; A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.", "output": {"entities": {"gene": [{"text": "NADH dehydrogenase subunit 6", "start": 43, "end": 71}], "disease": [{"text": "MELAS syndrome", "start": 95, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NADH dehydrogenase subunit 6", "start": 43, "end": 71}, "tail": {"text": "MELAS syndrome", "start": 95, "end": 109}}]}}, "schema": []}
{"input": "The mutation rate of genes other than mismatch repair or p53 is the same in colon cancer and in normal cells, indicating that a' mutator phenotype', increasing the rate of mutations in many genes, is not an essential feature of sporadic cancers; conversely, fusion genes, TEL-AML1/AML1-ETO, typical of leukemia, are 100 times more frequent at birth than in overt leukemia in children, indicating that further selective events are needed to cause malignancy.", "output": {"entities": {"gene": [{"text": "p53", "start": 57, "end": 60}], "disease": [{"text": "sporadic", "start": 228, "end": 236}]}, "relations": {}}, "schema": []}
{"input": "As noted in a previous report, MUC1-CT was recruited to genomic regions upstream of the connective tissue growth factor (CTGF) accompanied with β-catenin and p53, resulting in the hypoxic induction of CTGF.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 121, "end": 125}], "disease": [{"text": "hypoxic", "start": 180, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "This study explores the effect of LOX on invasion and migration of NSCLC cells under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "LOX", "start": 34, "end": 37}], "disease": [{"text": "hypoxic", "start": 85, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "This study aimed at establishing bacterial flagellin-recognizing toll-like receptor 5 (TLR5) as a novel link between gut microbiota composition, adipose tissue inflammation, and obesity.", "output": {"entities": {"gene": [{"text": "TLR5", "start": 87, "end": 91}], "disease": [{"text": "inflammation", "start": 160, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "In a murine itch model, ET-1-induced scratching behavior was substantially augmented by pharmacological ECE-1 inhibition and abrogated by treatment with an ERK1/2 inhibitor.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 156, "end": 160}], "disease": [{"text": "itch", "start": 12, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.", "output": {"entities": {"gene": [{"text": "hydroxymethylbilane synthase", "start": 68, "end": 96}], "disease": [{"text": "Acute intermittent porphyria", "start": 0, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hydroxymethylbilane synthase", "start": 68, "end": 96}, "tail": {"text": "Acute intermittent porphyria", "start": 0, "end": 28}}]}}, "schema": []}
{"input": "We analyzed NF2 gene promoter methylation in 35 sporadic VS by methylation-specific PCR.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 12, "end": 20}], "disease": [{"text": "sporadic", "start": 48, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "Neurological examination of all nine subjects from three generations harboring the novel cav-3 mutation showed clear evidence of rippling muscle disease.", "output": {"entities": {"gene": [{"text": "cav-3", "start": 89, "end": 94}], "disease": [{"text": "rippling muscle disease", "start": 129, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "cav-3", "start": 89, "end": 94}, "tail": {"text": "rippling muscle disease", "start": 129, "end": 152}}]}}, "schema": []}
{"input": "They suggest that loss of Cdx2 expression or transcriptional activity is an infrequent event during tumorigenesis, which does not contribute to molecular mechanisms underlying initiation and progression of most colorectal tumors.", "output": {"entities": {"gene": [{"text": "Cdx2", "start": 26, "end": 30}], "disease": [{"text": "tumorigenesis", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "The association of apolipoprotein E (APOE) genotypes with bone mineral density (BMD) and risk of osteoporosis have remained unclear.", "output": {"entities": {"gene": [{"text": "APOE", "start": 37, "end": 41}], "disease": [{"text": "bone mineral density", "start": 58, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PINK1 and DJ-1 are less common, accounting for-1-8%, and-1-2% of the sporadic cases with early-onset.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Because reversion is not observed with other disease-causing keratin mutations, the results of this study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant mosaicism in IWC.", "output": {"entities": {"gene": [{"text": "KRT1", "start": 116, "end": 120}], "disease": [{"text": "IWC", "start": 211, "end": 214}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KRT1", "start": 116, "end": 120}, "tail": {"text": "IWC", "start": 211, "end": 214}}]}}, "schema": []}
{"input": "LRRC4/NGL-2 regulates neurite outgrowth and lamina-specific dendritic segmentation, suggesting that LRRC4/NGL-2 is important for the development of the nervous system.", "output": {"entities": {"gene": [{"text": "NGL", "start": 6, "end": 9}], "disease": [{"text": "nervous system", "start": 152, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "By Cox relative hazard analysis, both SPP1-ht2 and-1, 800G > T were associated with age of HCC occurrence among chronic hepatitis patients, e. g.", "output": {"entities": {"gene": [{"text": "HCC", "start": 91, "end": 94}], "disease": [{"text": "chronic hepatitis", "start": 112, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Genomic DNAs were extracted from formalin-fixed, paraffin-embedded liver tissues obtained at surgery or autopsy in 3 normal individuals and 96 patients with hepatitis C virus-induced chronic liver disease; 3 with chronic hepatitis, 20 with liver cirrhosis and 73 with HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 268, "end": 271}], "disease": [{"text": "chronic hepatitis", "start": 213, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "It thus appears that the expression of the RLF gene and its products are down-regulated in Leydig cell hyperplasia and adenoma, consistent with a concomitant dedifferentiation of these cells.", "output": {"entities": {"gene": [{"text": "RLF gene", "start": 43, "end": 51}], "disease": [{"text": "adenoma", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "When joint effects of endotoxin exposure and smoking were considered, the effect modification of TNF and LTA polymorphisms was prominent in never smokers.", "output": {"entities": {"gene": [{"text": "TNF", "start": 97, "end": 100}], "disease": [{"text": "smoking", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "A single 40_63del24 mutation in COL4A3 seems to result in mild or no renal manifestations, whereas the homozygous state of 40_63del24 in COL4A3 gene or compound heterozygous mutation of 40_63del24 plus another nonsense or frameshift mutation in COL4A3 gene seems to result severe ARAS with hearing loss.", "output": {"entities": {"gene": [{"text": "COL4A3 gene", "start": 137, "end": 148}], "disease": [{"text": "mild", "start": 58, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "Thus, altered CDC42 signaling via CDC42EP3 may perturb synaptic plasticity and contribute to the spine deficits observed in layer 3 pyramidal neurons in schizophrenia.", "output": {"entities": {"gene": [{"text": "CDC42EP3", "start": 34, "end": 42}], "disease": [{"text": "schizophrenia", "start": 153, "end": 166}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CDC42EP3", "start": 34, "end": 42}, "tail": {"text": "schizophrenia", "start": 153, "end": 166}}]}}, "schema": []}
{"input": "To investigate whether the loss of MSH2 was a common feature of liposarcoma, we examined the MSH2 expression in an additional two sporadic liposarcomas, both of which were stained with anti-MSH2 antibody.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 35, "end": 39}], "disease": [{"text": "sporadic", "start": 130, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "We performed a genome-wide linkage scan with microsatellite markers after excluding mutations in three known genes (SCN9A, SCN10A, and TRPA1) that cause similar pain syndrome to our findings, and we mapped the genetic locus to a 7. 81 Mb region on chromosome 3p22. 3-p21. 32.", "output": {"entities": {"gene": [{"text": "p21", "start": 267, "end": 270}], "disease": [{"text": "pain syndrome", "start": 161, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Here we identified two unrelated FA-affected individuals, each harboring biallelic mutations in UBE2T.", "output": {"entities": {"gene": [{"text": "UBE2T", "start": 96, "end": 101}], "disease": [{"text": "FA", "start": 33, "end": 35}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UBE2T", "start": 96, "end": 101}, "tail": {"text": "FA", "start": 33, "end": 35}}]}}, "schema": []}
{"input": "We also provide evidence that ATM protein binds to p53 and this association is defective in A-T cells compatible with the defective p53 response in these cells.", "output": {"entities": {"gene": [{"text": "ATM", "start": 30, "end": 33}], "disease": [{"text": "A-T", "start": 92, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATM", "start": 30, "end": 33}, "tail": {"text": "A-T", "start": 92, "end": 95}}]}}, "schema": []}
{"input": "Hypermethylation of tumor suppressor genes (TSG) is thought to play an important role in tumorigenesis of prostate cancer.", "output": {"entities": {"gene": [{"text": "TSG", "start": 44, "end": 47}], "disease": [{"text": "prostate cancer", "start": 106, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Prorenin induces ERK activation in endothelial cells to enhance neovascularization independently of the renin-angiotensin system.", "output": {"entities": {"gene": [{"text": "ERK", "start": 17, "end": 20}], "disease": [{"text": "neovascularization", "start": 64, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "This study shows that a significant proportion of sporadic VS (> 40%) have unmethylated wild-type NF2 genes.", "output": {"entities": {"gene": [{"text": "NF2 genes", "start": 98, "end": 107}], "disease": [{"text": "sporadic", "start": 50, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Our aim was to verify if the triad KL-NFKB1-TNF is also dysregulated in temporal lobe epilepsy associated with hippocampal sclerosis (TLE (HS)) patients.", "output": {"entities": {"gene": [{"text": "NFKB1", "start": 38, "end": 43}], "disease": [{"text": "temporal lobe epilepsy", "start": 72, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Endogenous REDD1 is required for both dissociation of endogenous TSC2/14-3-3 and inhibition of mTORC1 in response to hypoxia.", "output": {"entities": {"gene": [{"text": "TSC2", "start": 65, "end": 69}], "disease": [{"text": "dissociation", "start": 38, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "In SON, a significant increase in both VP and OT mRNA expression was observed 6 h after dehydration reaching a peak at 24 h and returning to basal levels of expression at 72 h. In the PVN, an increase in both VP and OTmRNA expression occurred 24 h after dehydration.", "output": {"entities": {"gene": [{"text": "SON", "start": 3, "end": 6}], "disease": [{"text": "dehydration", "start": 88, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Fetal growth restriction (FGR) is associated with thrombosis of the placenta and an increased risk of subsequent vascular disease in the mother and fetus.", "output": {"entities": {"gene": [{"text": "FGR", "start": 26, "end": 29}], "disease": [{"text": "vascular disease", "start": 113, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "CONCLUSION: Because tumor growth is often associated with an increase of LPA concentration in ascites, stimulation of VEGF production in PMC might have an important role in the growth of cancer cells disseminated in the peritoneal cavity.", "output": {"entities": {"gene": [{"text": "LPA", "start": 73, "end": 76}], "disease": [{"text": "ascites", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The association between silicosis and pulmonary tuberculosis (PTB) has been well established.", "output": {"entities": {"gene": [{"text": "PTB", "start": 62, "end": 65}], "disease": [{"text": "silicosis", "start": 24, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Interleukin (IL)-12-driven primary hypothyroidism: the contrasting roles of two Th1 cytokines (IL-12 and interferon-gamma).", "output": {"entities": {"gene": [{"text": "Th1", "start": 80, "end": 83}], "disease": [{"text": "primary hypothyroidism", "start": 27, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1.", "output": {"entities": {"gene": [{"text": "GLUT1", "start": 325, "end": 330}], "disease": [{"text": "hemolysis", "start": 199, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "She subsequently developed a rapidly progressing T-cell leukaemia, with a CD4 + CD8 + T-cell phenotype, about five years after the first appearance of additional chromosome translocations in the clone cells.", "output": {"entities": {"gene": [{"text": "CD4", "start": 74, "end": 77}], "disease": [{"text": "leukaemia", "start": 56, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the effects on IAP of vitamin E administration in adolescents with type 1 diabetes and early signs of microangiopathy, 12 adolescents (aged 11-21 y; diabetes duration 10-18) were studied.", "output": {"entities": {"gene": [{"text": "IAP", "start": 27, "end": 30}], "disease": [{"text": "microangiopathy", "start": 114, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "In this study we analyzed a series of 33 BRCA1, 22 BRCA2, and 128 sporadic tumors by RNA profiling to investigate the classification potential of RNA profiles to predict BRCA1/2 mutation status.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 51, "end": 56}], "disease": [{"text": "sporadic", "start": 66, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "P-STAT1 in the liver tissue prior to IFN therapy correlated with an increased BMI and increased insulin resistance, and might be a useful predictor of HCV clearance by IFN therapy.", "output": {"entities": {"gene": [{"text": "IFN", "start": 37, "end": 40}], "disease": [{"text": "insulin resistance", "start": 96, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that MALAT1 is a metastasis-suppressing lncRNA rather than a metastasis promoter in breast cancer, calling for rectification of the model for this highly abundant and conserved lncRNA.", "output": {"entities": {"gene": [{"text": "MALAT1", "start": 32, "end": 38}], "disease": [{"text": "metastasis", "start": 44, "end": 54}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MALAT1", "start": 32, "end": 38}, "tail": {"text": "metastasis", "start": 44, "end": 54}}]}}, "schema": []}
{"input": "Interestingly, overexpression of caveolin-1 restores cellular senescence in both A549 and H460 lung cancer cells and inhibits their transformed phenotype.", "output": {"entities": {"gene": [{"text": "caveolin-1", "start": 33, "end": 43}], "disease": [{"text": "lung cancer", "start": 95, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "caveolin-1", "start": 33, "end": 43}, "tail": {"text": "lung cancer", "start": 95, "end": 106}}]}}, "schema": []}
{"input": "Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.", "output": {"entities": {"gene": [{"text": "REEP1", "start": 30, "end": 35}], "disease": [{"text": "distal hereditary motor neuropathy type V", "start": 57, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "REEP1", "start": 30, "end": 35}, "tail": {"text": "distal hereditary motor neuropathy type V", "start": 57, "end": 98}}]}}, "schema": []}
{"input": "Many studies have shown that p53 loss is an important risk factor for malignant adrenocortical tumour onset and it has been reported that somatic mutations in TP53 gene occur in 27 to 70% of adult sporadic ACCs.", "output": {"entities": {"gene": [{"text": "TP53 gene", "start": 159, "end": 168}], "disease": [{"text": "sporadic", "start": 197, "end": 205}]}, "relations": {}}, "schema": []}
{"input": "We found that ATGL knockdown enhanced monocyte adhesion via increased expression of TNFα-induced intercellular adhesion molecule-1 (ICAM-1).", "output": {"entities": {"gene": [{"text": "ATGL", "start": 14, "end": 18}], "disease": [{"text": "adhesion", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "The frequency of susceptible IL10-ht2 was much higher in HCC patients and significantly increased in order of susceptibility to HBV progression from chronic hepatitis to liver cirrhosis and HCC among hepatitis B patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 57, "end": 60}], "disease": [{"text": "chronic hepatitis", "start": 149, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "No interference by the international normalized ratio, activated partial thromboplastin time (aPTT), protein S activity, fibrinogen and factor VIII (FVIII) levels, or lupus anticoagulant ratio was detected.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 149, "end": 154}], "disease": [{"text": "fibrinogen", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In this issue of Blood, Rumi et al and Rotunno et al demonstrate that essential thrombocythemia (ET) patients with calreticulin mutations exhibit lower leukocyte and hemoglobin values, higher platelet counts, and a lower thrombosis risk vs JAK2-mutated ET.", "output": {"entities": {"gene": [{"text": "JAK2", "start": 240, "end": 244}], "disease": [{"text": "hemoglobin", "start": 166, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Analysis of the regulation of c-jun, jun-B, and c-fos RNA transcript expression was performed in human primary melanocytes and metastatic melanoma cell strains.", "output": {"entities": {"gene": [{"text": "c-jun", "start": 30, "end": 35}], "disease": [{"text": "metastatic melanoma", "start": 127, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "To examine ART-27 loss in prostate cancer progression, immunohistochemistry was conducted on a tissue array containing samples from primary tumors of individuals who were clinically followed and later shown to have either recurrent or nonrecurrent disease.", "output": {"entities": {"gene": [{"text": "ART-27", "start": 11, "end": 17}], "disease": [{"text": "prostate cancer", "start": 26, "end": 41}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ART-27", "start": 11, "end": 17}, "tail": {"text": "prostate cancer", "start": 26, "end": 41}}]}}, "schema": []}
{"input": "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.", "output": {"entities": {"gene": [{"text": "acid ceramidase", "start": 89, "end": 104}], "disease": [{"text": "Farber disease", "start": 159, "end": 173}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "acid ceramidase", "start": 89, "end": 104}, "tail": {"text": "Farber disease", "start": 159, "end": 173}}]}}, "schema": []}
{"input": "The presence of Epstein-Barr virus does not seem to be a good marker for distinguishing between NK/T lymphoma and PTL involving the nasal region.", "output": {"entities": {"gene": [{"text": "PTL", "start": 114, "end": 117}], "disease": [{"text": "lymphoma", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "These included the intermediate filament protein nestin, which was up-regulated in the infarct border zone.", "output": {"entities": {"gene": [{"text": "intermediate filament protein", "start": 19, "end": 48}], "disease": [{"text": "infarct", "start": 87, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We have established that HMIA associated with a TTC7A defect is characterized by multiorgan impairments.", "output": {"entities": {"gene": [{"text": "TTC7A", "start": 48, "end": 53}], "disease": [{"text": "HMIA", "start": 25, "end": 29}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTC7A", "start": 48, "end": 53}, "tail": {"text": "HMIA", "start": 25, "end": 29}}]}}, "schema": []}
{"input": "Six differentially regulated genes (DRGs) (FOSL1, SRF, JUN, TFAP4, SOX9, and HLF) and 16 transcription factor-to-target differentially co-expressed gene links or pairs (TF2target DCLs) appear to be the key differential factors in MDD; in contrast, one DRG (PATZ1) and eight TF2target DCLs appear to be the key differential factors in SSD.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 67, "end": 71}], "disease": [{"text": "MDD", "start": 230, "end": 233}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SOX9", "start": 67, "end": 71}, "tail": {"text": "MDD", "start": 230, "end": 233}}]}}, "schema": []}
{"input": "Loss of the SFRP1 protein can potentially activate the WNT pathway and this analysis highlighted hypermethylation of several other WNT pathway regulating genes and demonstrated a poorer survival outcome for patients with somatic mutation of these genes.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 12, "end": 17}], "disease": [{"text": "somatic mutation", "start": 221, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "Preoperative sera of 36 patients with ovarian cancer and of 16 with benign tumors were analyzed using commercially available copy number assay kits to measure the cfDNA level of genes including beta-2-microglobulin (B2M), member RAS oncogene family (RAB25), claudin 4 (CLDN4) and ATP-binding cassette subfamily F member 2 (ABCF2).", "output": {"entities": {"gene": [{"text": "B2M", "start": 216, "end": 219}], "disease": [{"text": "benign tumors", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "In our study, medication-free subjects with fully remitted major depression underwent a paradigm of catecholamine depletion, via use of the tyrosine hydroxylase inhibitor alpha-methylparatyrosine.", "output": {"entities": {"gene": [{"text": "tyrosine hydroxylase", "start": 140, "end": 160}], "disease": [{"text": "major depression", "start": 59, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "tyrosine hydroxylase", "start": 140, "end": 160}, "tail": {"text": "major depression", "start": 59, "end": 75}}]}}, "schema": []}
{"input": "Heterozygous CBP-deficient mice showed increased insulin sensitivity and were completely protected from body weight gain induced by a high-fat diet.", "output": {"entities": {"gene": [{"text": "CBP", "start": 13, "end": 16}], "disease": [{"text": "body weight gain", "start": 104, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "The association between polymorphisms in serotonergic genes (SERT and 5-HT2A, 5-HT2C) suggests that these genetic factors can modulate vulnerability to puerperal psychosis in female bipolar participants.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 70, "end": 76}], "disease": [{"text": "puerperal psychosis", "start": 152, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Consistent with the patient' s mild clinical phenotype, the I439S mutation conferred intermediate levels of repressor activity of DAX-1 when compared with mutations associated with classic AHC.", "output": {"entities": {"gene": [{"text": "DAX-1", "start": 130, "end": 135}], "disease": [{"text": "AHC", "start": 189, "end": 192}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX-1", "start": 130, "end": 135}, "tail": {"text": "AHC", "start": 189, "end": 192}}]}}, "schema": []}
{"input": "Previous studies demonstrated that not only CCR5 expression was altered in autoimmune and hypersensitivity disorders, but also that the mutation is associated with the diseases.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 44, "end": 48}], "disease": [{"text": "hypersensitivity", "start": 90, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "The density of FGF-2 mRNA + cells in CA4 was reduced in depression compared to controls.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 15, "end": 20}], "disease": [{"text": "depression", "start": 56, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-2", "start": 15, "end": 20}, "tail": {"text": "depression", "start": 56, "end": 66}}]}}, "schema": []}
{"input": "The serum anti-p53 antibody in 86 patients with HCC, 20 with chronic hepatitis (CH) and 20 with liver cirrhosis (LC) was measured by an enzyme-linked immunosorbent assay (ELISA).", "output": {"entities": {"gene": [{"text": "HCC", "start": 48, "end": 51}], "disease": [{"text": "chronic hepatitis", "start": 61, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Transfection of siRNA-targeting SEMA3B and SEMA3F in endometrial cancer cells attenuated P4 or 1, 25 (OH) (2) D (3)-induced growth inhibition.", "output": {"entities": {"gene": [{"text": "SEMA3F", "start": 43, "end": 49}], "disease": [{"text": "endometrial cancer", "start": 53, "end": 71}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEMA3F", "start": 43, "end": 49}, "tail": {"text": "endometrial cancer", "start": 53, "end": 71}}]}}, "schema": []}
{"input": "In a total of 123 Danish and Czech women with recurrent miscarriage, serum was investigated for six different APL antibodies including anticardiolipin (ACL) antibody.", "output": {"entities": {"gene": [{"text": "ACL", "start": 152, "end": 155}], "disease": [{"text": "recurrent miscarriage", "start": 46, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Two haplotypes (MICA: A5-C1_4_1: 5; P = 0. 002; OR 2. 63, 95% CI 1. 46-4. 74 and MICB: CA16-C1_4_1: 3; P = 0. 014; OR 0. 68, 95% CI 0. 50-0. 92) showed significant differences between periodontitis patients and controls.", "output": {"entities": {"gene": [{"text": "MICB", "start": 81, "end": 85}], "disease": [{"text": "periodontitis", "start": 184, "end": 197}]}, "relations": {}}, "schema": []}
{"input": "Ex-vivo colon culture experiments indicated that IL-22 was able to induce Th1-like inflammation via signal transducer and activator of transcription factor-1 (STAT1) and CXCL10 induction in the presence of type I interferon (IFN).", "output": {"entities": {"gene": [{"text": "STAT1", "start": 159, "end": 164}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "WISP-1 seems to act as a tumor suppressor and WISP-2 as a factor that stimulates aggressiveness; WISP-3 has no definable beneficial or detrimental role.", "output": {"entities": {"gene": [{"text": "WISP-1", "start": 0, "end": 6}], "disease": [{"text": "aggressiveness", "start": 81, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Lung injury and inflammation were assessed and pulmonary and hepatic CYP1A1 and CYP1A2 levels were quantified at the enzyme activity, protein and mRNA level.", "output": {"entities": {"gene": [{"text": "CYP1A2", "start": 80, "end": 86}], "disease": [{"text": "Lung injury", "start": 0, "end": 11}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CYP1A2", "start": 80, "end": 86}, "tail": {"text": "Lung injury", "start": 0, "end": 11}}]}}, "schema": []}
{"input": "These results provide evidence that prenatal exposure to DBP can lead to combined anorectal and urogenital malformations as well as dysplasia of the testes.", "output": {"entities": {"gene": [{"text": "DBP", "start": 57, "end": 60}], "disease": [{"text": "malformations", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "At the same level of DOCA-salt hypertension, the SHR. BN-D1Mit3/Igf2 congenic strain showed significantly greater proteinuria and histologically assessed renal vascular and glomerular injury than the SHR progenitor strain.", "output": {"entities": {"gene": [{"text": "Igf2", "start": 64, "end": 68}], "disease": [{"text": "proteinuria", "start": 114, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "The possible role of EZH2 and DNMT1 polymorphisms in sporadic triple-negative breast carcinoma in southern Chinese females.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 30, "end": 35}], "disease": [{"text": "sporadic", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c. 1836_1837insT, and one nonsense mutation, c. 599C & gt; A (p. S200X), in an infantile patient, and one deletion mutation, c. 1911 + 1_1911 + 5delGTAAG, and one missense mutation, c. 2041G & gt; A, in an adult late-onset patient.", "output": {"entities": {"gene": [{"text": "GALC", "start": 42, "end": 46}], "disease": [{"text": "Krabbe disease", "start": 91, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GALC", "start": 42, "end": 46}, "tail": {"text": "Krabbe disease", "start": 91, "end": 105}}]}}, "schema": []}
{"input": "In addition, the ME of B. microstachya (3--300 mg kg (-1), i. p., 30 min earlier) inhibited, in a graded manner, the hyperalgesia induced by bradykinin (3. 2 microg/paw), substance P (13. 5 microg/paw), carrageenan (300 microg/paw), capsaicin (100 microg/paw) and adrenaline (100 ng/paw) in the rat paw, with mean ID50 values of 20. 5, 17. 9, 101. 8, 54. 2 and 99. 7 mg kg (-1), respectively.", "output": {"entities": {"gene": [{"text": "substance P", "start": 171, "end": 182}], "disease": [{"text": "hyperalgesia", "start": 117, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "substance P", "start": 171, "end": 182}, "tail": {"text": "hyperalgesia", "start": 117, "end": 129}}]}}, "schema": []}
{"input": "Cerebral MRI showed only diffuse mild enlargement of the cortical sulci and the molecular genetics analysis of the PRNP was normal.", "output": {"entities": {"gene": [{"text": "MRI", "start": 9, "end": 12}], "disease": [{"text": "enlargement", "start": 38, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency, is reported.", "output": {"entities": {"gene": [{"text": "HSD17B3", "start": 60, "end": 67}], "disease": [{"text": "17 beta-HSD 3 deficiency", "start": 92, "end": 116}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD17B3", "start": 60, "end": 67}, "tail": {"text": "17 beta-HSD 3 deficiency", "start": 92, "end": 116}}]}}, "schema": []}
{"input": "Dose dependent effects of intravenous NaIO3 (20-70 mg/kg) on development of retinal degeneration (fundus photography) and RPE and retinal neuronal loss (histology) were determined in wild type and αB crystallin knockout mice.", "output": {"entities": {"gene": [{"text": "RPE", "start": 122, "end": 125}], "disease": [{"text": "retinal degeneration", "start": 76, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "GPX1 Pro (198) Leu polymorphism, erythrocyte GPX activity, interaction with alcohol consumption and smoking, and risk of colorectal cancer.", "output": {"entities": {"gene": [{"text": "GPX1", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 100, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes.", "output": {"entities": {"gene": [{"text": "MIM", "start": 78, "end": 81}], "disease": [{"text": "spastic paraplegia", "start": 58, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.", "output": {"entities": {"gene": [{"text": "KVLQT1", "start": 96, "end": 102}], "disease": [{"text": "Romano-Ward syndrome", "start": 10, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KVLQT1", "start": 96, "end": 102}, "tail": {"text": "Romano-Ward syndrome", "start": 10, "end": 30}}]}}, "schema": []}
{"input": "Repression of JAK2 transcription by G9a decreased H3Y41 phosphorylation and promoted inhibition of the recently identified JAK2-H3Y41P-HP1α pathway-mediated leukemogenesis.", "output": {"entities": {"gene": [{"text": "G9a", "start": 36, "end": 39}], "disease": [{"text": "leukemogenesis", "start": 157, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have indicated that the immune mediator CD40-CD40L (CD40 ligand), which is expressed on several inflammatory cells within human atherosclerotic lesions, has roles in atherogenesis.", "output": {"entities": {"gene": [{"text": "CD40 ligand", "start": 67, "end": 78}], "disease": [{"text": "atherogenesis", "start": 181, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "We describe a Norwegian family with typical CS in which a heterozygous deletion removes the entire MNX1 gene but no other known genes.", "output": {"entities": {"gene": [{"text": "MNX1", "start": 99, "end": 103}], "disease": [{"text": "CS", "start": 44, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MNX1", "start": 99, "end": 103}, "tail": {"text": "CS", "start": 44, "end": 46}}]}}, "schema": []}
{"input": "Further investigation revealed that only EDEM1 and EDEM3 bind with SEL1L, an ER membrane adaptor protein involved in translocation of ERAD substrates from the ER to the cytoplasm.", "output": {"entities": {"gene": [{"text": "SEL1L", "start": 67, "end": 72}], "disease": [{"text": "translocation", "start": 117, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Moreover, FATP4 and CD36 expression levels correlated with measures of obesity and insulin resistance that are influenced by both genetic and non-genetic factors (FATP4 versus BMI: r = 0. 53, p = 0. 0001; FATP4 versus body fat: r = 0. 51, p = 0. 002; FATP4 versus homeostasis model assessment [HOMA]: r = 0. 49, p = 0. 001; CD36 versus BMI: r = 0. 50, p = 0. 02; CD36 versus body fat: r = 0. 63, p = 0. 001; CD36 versus HOMA: r = 0. 34, p = 0. 06).", "output": {"entities": {"gene": [{"text": "FATP4", "start": 10, "end": 15}], "disease": [{"text": "insulin resistance", "start": 83, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "These findings establish MTDH as an important therapeutic target for simultaneously enhancing chemotherapy efficacy and reducing metastasis risk.", "output": {"entities": {"gene": [{"text": "MTDH", "start": 25, "end": 29}], "disease": [{"text": "metastasis", "start": 129, "end": 139}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "MTDH", "start": 25, "end": 29}, "tail": {"text": "metastasis", "start": 129, "end": 139}}]}}, "schema": []}
{"input": "FOXE1 and NKX2-1 are two known genetic risk factors for the predisposition to sporadic papillary thyroid carcinoma (PTC) in Europeans, but their association in other ethnicities is still unknown.", "output": {"entities": {"gene": [{"text": "NKX2-1", "start": 10, "end": 16}], "disease": [{"text": "sporadic", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated.", "output": {"entities": {"gene": [{"text": "ABCR", "start": 118, "end": 122}], "disease": [{"text": "STGD1", "start": 145, "end": 150}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCR", "start": 118, "end": 122}, "tail": {"text": "STGD1", "start": 145, "end": 150}}]}}, "schema": []}
{"input": "Early-onset Alzheimer' s disease (EOAD) can be familial (FAD) or sporadic EOAD (sEOAD); both have a disease onset ≤ 65 years of age.", "output": {"entities": {"gene": [{"text": "FAD", "start": 57, "end": 60}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We here describe an overexpression of MIF in ovarian cancer that correlates with malignancy and the presence of ascites.", "output": {"entities": {"gene": [{"text": "MIF", "start": 38, "end": 41}], "disease": [{"text": "ascites", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "The deleted in colorectal cancer (DCC) protein is an adhesion family molecule of unequivocal importance in neural development that has also been implicated in several malignancies, including neuroblastoma, through its apparent loss of function.", "output": {"entities": {"gene": [{"text": "DCC", "start": 34, "end": 37}], "disease": [{"text": "adhesion", "start": 53, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "This study reports a set of dizygotic twins with CH due to the mutations in the DUOX2/DUOXA2 system.", "output": {"entities": {"gene": [{"text": "DUOXA2", "start": 86, "end": 92}], "disease": [{"text": "dizygotic twins", "start": 28, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Thyroid tumor cell lines (BCPAP [papillary thyroid cancer] and ML-1 [follicular thyroid cancer]) were cultured with estradiol with and without an estrogen receptor (ER) inhibitor (fulvestrant or ICI) and used to treat human umbilical vein endothelial cells (HUVECs).", "output": {"entities": {"gene": [{"text": "ML-1", "start": 63, "end": 67}], "disease": [{"text": "follicular thyroid cancer", "start": 69, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The presence of a P53 mutation in 80% of these cancers indicates that P53 mutation is common but not required for BRCA-linked ovarian tumorigenesis; notably, a significantly higher proportion of the P53 mutations in BRCA2-linked cancers were deletions or insertions compared with the more typical spectrum of missense mutations seen in BRCA1-linked cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 216, "end": 221}], "disease": [{"text": "tumorigenesis", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Increased endothelial nitric-oxide synthase expression reduces hypertension and hyperinsulinemia in fructose-treated rats.", "output": {"entities": {"gene": [{"text": "endothelial nitric-oxide synthase", "start": 10, "end": 43}], "disease": [{"text": "hyperinsulinemia", "start": 80, "end": 96}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "endothelial nitric-oxide synthase", "start": 10, "end": 43}, "tail": {"text": "hyperinsulinemia", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "An increase of HIC to greater than 3 times the upper limit of normal is highly unlikely in hyperferritinemic subjects who do not have HFE-related hereditary hemochromatosis or causes of secondary iron overload.", "output": {"entities": {"gene": [{"text": "HIC", "start": 15, "end": 18}], "disease": [{"text": "secondary", "start": 186, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Cysteine-rich 61 (Cyr61), a member of the CCN protein family, possesses diverse functionality in cellular processes such as adhesion, migration, proliferation, and survival.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 18, "end": 23}], "disease": [{"text": "adhesion", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Neurotensin, calcitonin gene-related peptide, and neuropeptide Y exhibited no physiologically significant changes in heart rate.", "output": {"entities": {"gene": [{"text": "calcitonin gene-related peptide", "start": 13, "end": 44}], "disease": [{"text": "heart rate", "start": 117, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "Here, we demonstrate that 1-year-old Kcne2 (-/-) mice in a pathogen-free environment all exhibit a severe gastric preneoplastic phenotype comprising gastritis cystica profunda, 6-fold increased stomach mass, increased Ki67 and nuclear Cyclin D1 expression, and TFF2-and cytokeratin 7-expressing metaplasia.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 261, "end": 265}], "disease": [{"text": "metaplasia", "start": 295, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we observed that TTK silencing led to an increase in H2AX phosphorylation, activation of caspases 3/7, sub-G1 cell population accumulation and high annexin V staining, as well as to a decrease in G1 phase cell population and an increased aneuploidy.", "output": {"entities": {"gene": [{"text": "annexin V", "start": 158, "end": 167}], "disease": [{"text": "aneuploidy", "start": 248, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Acid-labile subunit deficiency due to IGFALS mutations is a rare cause of growth retardation in children.", "output": {"entities": {"gene": [{"text": "IGFALS", "start": 38, "end": 44}], "disease": [{"text": "Acid-labile subunit deficiency", "start": 0, "end": 30}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IGFALS", "start": 38, "end": 44}, "tail": {"text": "Acid-labile subunit deficiency", "start": 0, "end": 30}}]}}, "schema": []}
{"input": "cDNA microarray and Western blot analyses reveal that the gap junctional intracellular communication molecule connexin 43 (Cx-43), known to be involved in tumor cell diapedesis and attachment to endothelial cells, is significantly decreased after PAR-1 silencing in metastatic melanoma cell lines.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 110, "end": 121}], "disease": [{"text": "metastatic melanoma", "start": 266, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "The level of SRIF in the SME was lower and the plasma concentration of GH was higher in the depression-model group than in the other groups.", "output": {"entities": {"gene": [{"text": "GH", "start": 71, "end": 73}], "disease": [{"text": "depression", "start": 92, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GH", "start": 71, "end": 73}, "tail": {"text": "depression", "start": 92, "end": 102}}]}}, "schema": []}
{"input": "During the last two decades, NPY body fluid concentrations and NPY/PYY brain receptor numbers have been demonstrated to be altered during the course of Alzheimer' s disease.", "output": {"entities": {"gene": [{"text": "PYY", "start": 67, "end": 70}], "disease": [{"text": "Alzheimer' s disease", "start": 152, "end": 172}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PYY", "start": 67, "end": 70}, "tail": {"text": "Alzheimer' s disease", "start": 152, "end": 172}}]}}, "schema": []}
{"input": "Zebrafish with genetic knockdown of mybpc3 by morpholino showed ventricular hypertrophy with increased myocardial wall thickness and diastolic heart failure, manifesting as decreased ventricular diastolic relaxation velocity, pericardial effusion, and dilatation of the atrium.", "output": {"entities": {"gene": [{"text": "mybpc3", "start": 36, "end": 42}], "disease": [{"text": "dilatation", "start": 252, "end": 262}]}, "relations": {}}, "schema": []}
{"input": "Although autoimmunity against MOBP has been associated with multiple sclerosis pathogenesis, anti-MOBP pathogenic T cells have been poorly investigated as compared to T cells against other encephalitogenic myelin proteins.", "output": {"entities": {"gene": [{"text": "MOBP", "start": 30, "end": 34}], "disease": [{"text": "autoimmunity", "start": 9, "end": 21}]}, "relations": {}}, "schema": []}
{"input": "Using an online SAGE database (http://www. ncbi. nlm. gov/SAGE), we found the tag for mesothelin to be consistently present in the mesothelioma, ovarian cancer, and pancreatic cancer libraries but not in normal pancreas libraries.", "output": {"entities": {"gene": [{"text": "SAGE", "start": 16, "end": 20}], "disease": [{"text": "mesothelioma", "start": 131, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of ornithine decarboxylase antizyme 1 causes loss of uptake regulation leading to increased N1, N11-bis (ethyl) norspermine (BENSpm) accumulation and toxicity in NCI H157 lung cancer cells.", "output": {"entities": {"gene": [{"text": "ornithine decarboxylase antizyme 1", "start": 13, "end": 47}], "disease": [{"text": "lung cancer", "start": 181, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "AIM: MATERIAL AND METHODOLOGY: Our study included 108 cases of non-small cell lung cancer who were admitted in our hospital.", "output": {"entities": {"gene": [{"text": "AIM", "start": 0, "end": 3}], "disease": [{"text": "non-small cell lung cancer", "start": 63, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "DNA from 886 Caucasian participants (198 non-reflux controls, 305 RE, 254 BE, 129 EAC) was collected for the determination of the Myo9B gene polymorphism (rs2305764).", "output": {"entities": {"gene": [{"text": "Myo9B gene", "start": 130, "end": 140}], "disease": [{"text": "reflux", "start": 45, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To better elucidate the pathogenesis of lymphocyte recruitment of memory CD4 (+) T cells in inflammatory myopathies, we studied the expression of CCR5 and CCR7 on CD4 memory T cells in muscle tissue from 11 patients with juvenile dermatomyositis, six adult patients with polymyositis, two patients with Duchenne muscular dystrophy, and two patients with spinal muscular atrophy.", "output": {"entities": {"gene": [{"text": "CCR7", "start": 155, "end": 159}], "disease": [{"text": "spinal muscular atrophy", "start": 354, "end": 377}]}, "relations": {}}, "schema": []}
{"input": "We analyzed mutations in the COL7A1 gene in a Chinese family including 5 affected individuals with typical DEB-Pr and in a patient previously reported with sporadic DEB-Pr.", "output": {"entities": {"gene": [{"text": "COL7A1 gene", "start": 29, "end": 40}], "disease": [{"text": "sporadic", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "p53 expression was detected in 20/26 (77%) BRCA1-, 10/22 (45%) BRCA2-associated and 25/72 (35%) grade-matched sporadic tumours.", "output": {"entities": {"gene": [{"text": "p53", "start": 0, "end": 3}], "disease": [{"text": "sporadic", "start": 110, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "More detailed characterization was achieved by using chromosome 2 arm-specific and marker-specific DNA libraries, which were constructed by microdissection of the two arms chromosome 2 and SMC with subsequent amplification of the chromosomal material by a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR).", "output": {"entities": {"gene": [{"text": "SMC", "start": 189, "end": 192}], "disease": [{"text": "arms", "start": 167, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Because anti-human antibodies developed in these mice, LDLR (-/-)/low-density lipoprotein receptor Rag 1 double-knockout mice (lacking the ability to make immunoglobulins due to loss of T-and B-cell function) were treated with an adenoviral vector encoding adenovirus expressed (Adv)-IK17-scFv or control adenovirus-enhanced green fluorescent protein vector intravenously every 2 weeks for 16 weeks.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 55, "end": 59}], "disease": [{"text": "adenovirus", "start": 257, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Cellular damage by oxygen free radicals is a primary driving force for aging and increased activation of redox-regulated transcription factors, such as NF-kappaB that regulate the expression of pro-inflammatory molecules, has been documented in aged animals/individuals versus their young counterparts.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 152, "end": 161}], "disease": [{"text": "aging", "start": 71, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "We examined the association of insulin resistance and MetSyn with coronary artery calcification (CAC) in 840 asymptomatic nondiabetic subjects.", "output": {"entities": {"gene": [{"text": "CAC", "start": 97, "end": 100}], "disease": [{"text": "coronary artery calcification", "start": 66, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Altogether, our data suggest that MHA, SBS, FTNS, EPS, and APSM comprise a phenotypic spectrum of disorders, all caused by MYH9 mutations.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 123, "end": 127}], "disease": [{"text": "MHA", "start": 34, "end": 37}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 123, "end": 127}, "tail": {"text": "MHA", "start": 34, "end": 37}}]}}, "schema": []}
{"input": "Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "HNPCC", "start": 9, "end": 14}], "disease": [{"text": "colorectal cancer", "start": 76, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HNPCC", "start": 9, "end": 14}, "tail": {"text": "colorectal cancer", "start": 76, "end": 93}}]}}, "schema": []}
{"input": "We examined the expression of nape-pld mRNA, CB1 and FAAH in human placenta hypothesizing that their altered signaling may contribute to spontaneous miscarriage.", "output": {"entities": {"gene": [{"text": "nape-pld", "start": 30, "end": 38}], "disease": [{"text": "miscarriage", "start": 149, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.", "output": {"entities": {"gene": [{"text": "SLC4A11", "start": 54, "end": 61}], "disease": [{"text": "Fuchs corneal dystrophy", "start": 79, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC4A11", "start": 54, "end": 61}, "tail": {"text": "Fuchs corneal dystrophy", "start": 79, "end": 102}}]}}, "schema": []}
{"input": "In the set of HCC versus liver cirrhosis the AUC values were 0. 744 (AFP), 0. 918 (hCE1) and 0. 938 (combination of AFP and hCE1), respectively.", "output": {"entities": {"gene": [{"text": "hCE1", "start": 83, "end": 87}], "disease": [{"text": "liver cirrhosis", "start": 25, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "These data suggest an oncodevelopmental link between neoplasia and hyperplasia and demonstrate that CEACAM1 acts as a regulator of apoptosis in the colonic epithelium.", "output": {"entities": {"gene": [{"text": "CEACAM1", "start": 100, "end": 107}], "disease": [{"text": "hyperplasia", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Krabbe disease is a devastating neurodegenerative disease characterized by widespread demyelination that is caused by defects in the enzyme galactocerebrosidase (GALC).", "output": {"entities": {"gene": [{"text": "GALC", "start": 162, "end": 166}], "disease": [{"text": "demyelination", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "In addition, coexpression of CD10 and α-SMA markers was observed in the stromal components in 3 APA cases, in line with the results of normal secretory endometrial and adenomyoma samples, suggesting that cells progress to myofibromatous cells in response to differentiation-promoting events.", "output": {"entities": {"gene": [{"text": "APA", "start": 96, "end": 99}], "disease": [{"text": "adenomyoma", "start": 168, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We studied nerve conduction values, postural adaptation, sympathetic skin reflex, the variation in heart rate by the Valsalva ratio and pupillometry in 7 members of a French family in which CMT due to a Thr124Met mutation in the myelin protein zero (MPZ) gene was diagnosed.", "output": {"entities": {"gene": [{"text": "MPZ", "start": 250, "end": 253}], "disease": [{"text": "heart rate", "start": 99, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "In human colon carcinoma Colo205 and HT29 xenografts grown in human endosialin-transgenic mice, endosialin expression was largely confined to NG2-expressing perivascular cells and not CD31-positive endothelial cells.", "output": {"entities": {"gene": [{"text": "NG2", "start": 142, "end": 145}], "disease": [{"text": "colon carcinoma", "start": 9, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "In human breast cancer MCF-7 cells, sera from maternal HFD-exposed Tg offspring elicited changes in PTEN, BCL2 and IL6 gene expression, mimicking in vivo exposure; increased cell viability and mammosphere formation and induced measures [insulin receptor substrate-1 (IRS-1), IRS-2] of insulin sensitivity.", "output": {"entities": {"gene": [{"text": "IL6 gene", "start": 115, "end": 123}], "disease": [{"text": "insulin sensitivity", "start": 285, "end": 304}]}, "relations": {}}, "schema": []}
{"input": "In this study we performed the genetic analysis of FSHR and LHR and semen investigation in 14 infertile men with normal level of T and elevated levels of FSH and/or LH in the absence of other causes of infertility.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 51, "end": 55}], "disease": [{"text": "infertility", "start": 202, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "In addition to vascular repair, there is increasing evidence to show that FIR can be applied to a variety of diseases, including cardiovascular disorders, hypertension and arthritis.", "output": {"entities": {"gene": [{"text": "FIR", "start": 74, "end": 77}], "disease": [{"text": "cardiovascular disorders", "start": 129, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "To substantiate this notion we performed sequence analysis of the SCAD gene in 10 patients with ethylmalonic aciduria and diagnosed with SCAD deficiency in fibroblasts.", "output": {"entities": {"gene": [{"text": "SCAD", "start": 66, "end": 70}], "disease": [{"text": "SCAD deficiency", "start": 137, "end": 152}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SCAD", "start": 66, "end": 70}, "tail": {"text": "SCAD deficiency", "start": 137, "end": 152}}]}}, "schema": []}
{"input": "The Ile164 variant of the beta2-adrenoceptor has been shown to alter cardiovascular phenotypes and adversely affect survival in heart failure patients.", "output": {"entities": {"gene": [{"text": "beta2", "start": 26, "end": 31}], "disease": [{"text": "heart failure", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "The location of the OSM gene was determined relative to the t (11; 22) (q24; q12) of Ewing' s sarcoma and found to be distal to the translocation breakpoint on chromosome 22.", "output": {"entities": {"gene": [{"text": "OSM gene", "start": 20, "end": 28}], "disease": [{"text": "sarcoma", "start": 94, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "We identified a novel PAX8 mutation R52P, dominantly inherited in a three-generation pedigree and leading to non-congenital, early-onset, non-goitre, non-autoimmune hypothyroidism with gradual postnatal regression of the thyroid size and function.", "output": {"entities": {"gene": [{"text": "PAX8", "start": 22, "end": 26}], "disease": [{"text": "autoimmune hypothyroidism", "start": 154, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Reverse transcriptase polymerase chain reaction analysis of the PDZRN3, CNTN3, STXBP5, PVRL3, HSPB8, and CCDC60 genes revealed slight variation in the copy number of transcripts, but without correlation to the chromosomal rearrangements in translocation-associated and sporadic conventional RCCs.", "output": {"entities": {"gene": [{"text": "CNTN3", "start": 72, "end": 77}], "disease": [{"text": "translocation", "start": 240, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "In the kidney of the FFA-bound BSA-overloaded mouse, which is a well-established experimental model of FFA-associated tubulointerstitial inflammation, mRNA expression of SIRT3 was significantly decreased and negatively correlated with mRNA expression of an inflammatory cytokine, monocyte chemoattractant protein-1 (MCP-1).", "output": {"entities": {"gene": [{"text": "SIRT3", "start": 170, "end": 175}], "disease": [{"text": "inflammation", "start": 137, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Analysis of HLA-class-II-encoded antigen-processing genes TAP1 and TAP2 in primary biliary cirrhosis.", "output": {"entities": {"gene": [{"text": "TAP1", "start": 58, "end": 62}], "disease": [{"text": "primary biliary cirrhosis", "start": 75, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "We attempted to gain insight into the potential contribution of ovarian cancer genomic instability resulted from TP53 mutation to the aberrant expression of multidrug resistance gene MDR1.", "output": {"entities": {"gene": [{"text": "gene MDR1", "start": 178, "end": 187}], "disease": [{"text": "genomic instability", "start": 79, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Keap1 knockdown inhibited TNF-α-induced expression of intracellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) by suppressing NF-κB activation via inhibition of its upstream modulators, Akt, NIK, and IKK, resulting in the elevation of monocyte adhesion to endothelial cells.", "output": {"entities": {"gene": [{"text": "Keap1", "start": 0, "end": 5}], "disease": [{"text": "adhesion", "start": 68, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Association of IL13 with total IgE: evidence against an inverse association of atopy and diabetes.", "output": {"entities": {"gene": [{"text": "IL13", "start": 15, "end": 19}], "disease": [{"text": "atopy", "start": 79, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In our present study, the positive rate and the mean optical density (MOD) value of CrkL expression in PTC and PMC tissues were statistically significantly different, compared with nodular goiter (p = 0. 021, 0. 037) and normal thyroid tissues (p = 0. 003, 0. 009), respectively.", "output": {"entities": {"gene": [{"text": "CrkL", "start": 84, "end": 88}], "disease": [{"text": "nodular goiter", "start": 181, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "No association was seen between systolic blood pressure (SBP) and any of the three genotypes at amino acid position 389 in hypertensive patients, neither between the Ser49Gly polymorphisms and hypertension, nor between the Ser49Gly genotypes and DBP and heart rate.", "output": {"entities": {"gene": [{"text": "DBP", "start": 246, "end": 249}], "disease": [{"text": "systolic blood pressure", "start": 32, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Apolipoprotein E expression promotes lung adenocarcinoma proliferation and migration and as a potential survival marker in lung cancer.", "output": {"entities": {"gene": [{"text": "Apolipoprotein E", "start": 0, "end": 16}], "disease": [{"text": "lung cancer", "start": 123, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Apolipoprotein E", "start": 0, "end": 16}, "tail": {"text": "lung cancer", "start": 123, "end": 134}}]}}, "schema": []}
{"input": "Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors, respectively, in a large panel of 941 individuals including 295 patients with ASD, 362 controls and 284 individuals from different ethnic backgrounds.", "output": {"entities": {"gene": [{"text": "MTNR1A", "start": 42, "end": 48}], "disease": [{"text": "ASD", "start": 179, "end": 182}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MTNR1A", "start": 42, "end": 48}, "tail": {"text": "ASD", "start": 179, "end": 182}}]}}, "schema": []}
{"input": "Allelic status of 1p, 14q, and 22q and NF2 gene mutations in sporadic schwannomas.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 39, "end": 47}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "The ex vivo expansion and reinfusion of autologous B10 cells may provide a novel and effective in vivo treatment for severe autoimmune diseases that are resistant to current therapies.", "output": {"entities": {"gene": [{"text": "B10", "start": 51, "end": 54}], "disease": [{"text": "autoimmune diseases", "start": 124, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "Renal function, diabetes prevalence, systolic blood pressure, heart rate and ejection fraction differed significantly in the high PTX3 (≥ 3. 0 ng/ml, n = 107) and low PTX3 (< 3. 0 ng/ml, n = 418) groups (all p < 0. 05).", "output": {"entities": {"gene": [{"text": "PTX3", "start": 130, "end": 134}], "disease": [{"text": "systolic blood pressure", "start": 37, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "INT1 and GLI genes are not rearranged or amplified in benign pleomorphic adenomas with chromosome abnormalities of 12q13-15.", "output": {"entities": {"gene": [{"text": "GLI", "start": 9, "end": 12}], "disease": [{"text": "chromosome abnormalities", "start": 87, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Presenilin 2 was identified in primitive islet and duct cells of human foetal pancreas and in proliferating exocrine duct cells in human pancreatitis but not found in islet amyloid deposits in Type 2 diabetic subjects.", "output": {"entities": {"gene": [{"text": "Presenilin 2", "start": 0, "end": 12}], "disease": [{"text": "amyloid deposits", "start": 173, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "We next exposed pregnant mice to 3μg/kg of TCDD throughout gestation and lactation to elucidate effects of developmental AHR activation on later-life T cell development and T-ALL-like thymoma susceptibility induced by Notch1.", "output": {"entities": {"gene": [{"text": "AHR", "start": 121, "end": 124}], "disease": [{"text": "thymoma", "start": 184, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "Primary cell cultures were initiated from ascites harvested at surgery which were used to characterize response to MIS.", "output": {"entities": {"gene": [{"text": "MIS", "start": 115, "end": 118}], "disease": [{"text": "ascites", "start": 42, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.", "output": {"entities": {"gene": [{"text": "CRX", "start": 85, "end": 88}], "disease": [{"text": "Cone-rod dystrophy", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CRX", "start": 85, "end": 88}, "tail": {"text": "Cone-rod dystrophy", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "To test the hypothesis that cardiomyocyte-restricted expression of a known PAO is sufficient to cause heart failure, transgenic mice were created expressing polyglutamine repeats of 83 (PQ83) or 19 (PQ19).", "output": {"entities": {"gene": [{"text": "PAO", "start": 75, "end": 78}], "disease": [{"text": "heart failure", "start": 102, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our study suggests that EMX2 may have important roles as a novel suppressor in human lung cancer.", "output": {"entities": {"gene": [{"text": "EMX2", "start": 40, "end": 44}], "disease": [{"text": "lung cancer", "start": 101, "end": 112}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EMX2", "start": 40, "end": 44}, "tail": {"text": "lung cancer", "start": 101, "end": 112}}]}}, "schema": []}
{"input": "Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "Progranulin", "start": 0, "end": 11}], "disease": [{"text": "bipolar disorder", "start": 50, "end": 66}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Progranulin", "start": 0, "end": 11}, "tail": {"text": "bipolar disorder", "start": 50, "end": 66}}]}}, "schema": []}
{"input": "Type 2 diabetes risk alleles near BCAR1 and in ANK1 associate with decreased β-cell function whereas risk alleles near ANKRD55 and GRB14 associate with decreased insulin sensitivity in the Danish Inter99 cohort.", "output": {"entities": {"gene": [{"text": "GRB14", "start": 131, "end": 136}], "disease": [{"text": "insulin sensitivity", "start": 162, "end": 181}]}, "relations": {}}, "schema": []}
{"input": "In particular, 4 genes of them, which were cytochrome C oxidase Va, PPBP, EPHX2 and PON1, were first reported to correlate with tumorigenesis.", "output": {"entities": {"gene": [{"text": "PPBP", "start": 68, "end": 72}], "disease": [{"text": "tumorigenesis", "start": 128, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, S6K1 overexpression exerts the same effects as Arg-II on endothelial senescence and inflammation responses, which are prevented by silencing Arg-II, demonstrating a role of Arg-II as the mediator of S6K1-induced endothelial aging.", "output": {"entities": {"gene": [{"text": "S6K1", "start": 13, "end": 17}], "disease": [{"text": "aging", "start": 237, "end": 242}]}, "relations": {}}, "schema": []}
{"input": "Our data validate the concept of enhanced anti-tumor immunity by repetitive ACT of ex vivo cblb siRNA-silenced hyper-reactive CD8 (+) T cells as add-on adjuvant therapy to augment the efficacy of existing cancer immunotherapy regimens in clinical practice.", "output": {"entities": {"gene": [{"text": "CD8", "start": 126, "end": 129}], "disease": [{"text": "tumor immunity", "start": 47, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Recently, FOXC1, a forkhead box transcription factor, was identified as a functionally important biomarker of breast cancer aggressiveness and the basal-like breast cancer subtype.", "output": {"entities": {"gene": [{"text": "FOXC1", "start": 10, "end": 15}], "disease": [{"text": "aggressiveness", "start": 124, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.", "output": {"entities": {"gene": [{"text": "SP110", "start": 72, "end": 77}], "disease": [{"text": "veno-occlusive disease", "start": 89, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "This behavior, primarily mediated by stimulation of 5-HT2A receptors, has been proposed to model tic symptoms seen in Tourette' s syndrome (TS).", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 52, "end": 58}], "disease": [{"text": "tic", "start": 97, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Five novel LMNA mutations (K97E, E111X, R190W, E317K, four base pair insertion at 1, 713 cDNA) were identified in five cases of familial autosomal dominant DCM with AVB (5/15: 33%).", "output": {"entities": {"gene": [{"text": "LMNA", "start": 11, "end": 15}], "disease": [{"text": "DCM", "start": 156, "end": 159}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LMNA", "start": 11, "end": 15}, "tail": {"text": "DCM", "start": 156, "end": 159}}]}}, "schema": []}
{"input": "Our findings support the hypothesis that BDNF and MEK1 mRNA expression levels are more obviously decreased in patients with TRD.", "output": {"entities": {"gene": [{"text": "MEK1", "start": 50, "end": 54}], "disease": [{"text": "TRD", "start": 124, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MEK1", "start": 50, "end": 54}, "tail": {"text": "TRD", "start": 124, "end": 127}}]}}, "schema": []}
{"input": "Some cases have been described with a phenotype much closer to idiopathic Parkinson' s disease, but it does not appear that PINK1 is a major risk factor for the sporadic disease.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 124, "end": 129}], "disease": [{"text": "sporadic", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, inhibition of RRM1 by siRNA significantly reduced the dNTP pool, Ras/Raf and MMP-9 activities and the levels of p-MEK, p-ERK and NF-κB, resulting in growth retardation and reduced invasion in AGS and NCI-N87 cells.", "output": {"entities": {"gene": [{"text": "ERK", "start": 134, "end": 137}], "disease": [{"text": "growth retardation", "start": 162, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that distinct protein expression patterns, affecting TXNL1 and HDAC2, distinguish aneuploid with poor prognosis from diploid colorectal cancers.", "output": {"entities": {"gene": [{"text": "TXNL1", "start": 73, "end": 78}], "disease": [{"text": "aneuploid", "start": 102, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "In the present studies we investigated the clinical features and the mutations in the hURAT1 gene in seven families with presecretory reabsorption defect-type renal hypouricemia and in one family with the postsecretory reabsorption defect type.", "output": {"entities": {"gene": [{"text": "hURAT1", "start": 86, "end": 92}], "disease": [{"text": "renal hypouricemia", "start": 159, "end": 177}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hURAT1", "start": 86, "end": 92}, "tail": {"text": "renal hypouricemia", "start": 159, "end": 177}}]}}, "schema": []}
{"input": "The diagnosis of UMS was confirmed on mutation analysis of TBX3.", "output": {"entities": {"gene": [{"text": "TBX3", "start": 59, "end": 63}], "disease": [{"text": "UMS", "start": 17, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TBX3", "start": 59, "end": 63}, "tail": {"text": "UMS", "start": 17, "end": 20}}]}}, "schema": []}
{"input": "Two siblings with SOD were homozygous for an Arg53Cys missense mutation within the HESX1 homeodomain which destroyed its ability to bind target DNA.", "output": {"entities": {"gene": [{"text": "HESX1", "start": 83, "end": 88}], "disease": [{"text": "SOD", "start": 18, "end": 21}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HESX1", "start": 83, "end": 88}, "tail": {"text": "SOD", "start": 18, "end": 21}}]}}, "schema": []}
{"input": "The results found that 51/128 of HCC, 11/76 of chronic hepatitis, 11/22 of liver cirrhosis and 8/54 of nasopharynx cancer patients had antibodies against HCC-22-5.", "output": {"entities": {"gene": [{"text": "HCC", "start": 33, "end": 36}], "disease": [{"text": "chronic hepatitis", "start": 47, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Several genes and transcripts involved in lipolysis were down-regulated, such as AKAP1, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing obese to lean subjects.", "output": {"entities": {"gene": [{"text": "NPY1R", "start": 119, "end": 124}], "disease": [{"text": "obese", "start": 168, "end": 173}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NPY1R", "start": 119, "end": 124}, "tail": {"text": "obese", "start": 168, "end": 173}}]}}, "schema": []}
{"input": "This mutation was a G-to-T transversion, involving the substitution of the normal glycine (GGT) with cystein (TGT) and thought to be a somatic mutation.", "output": {"entities": {"gene": [{"text": "TGT", "start": 110, "end": 113}], "disease": [{"text": "somatic mutation", "start": 135, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "ESR1 SNPs were analysed for association with adipocyte lipolysis and lipogenesis phenotypes in 204 obese women by simple regression.", "output": {"entities": {"gene": [{"text": "ESR1", "start": 0, "end": 4}], "disease": [{"text": "regression", "start": 121, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.", "output": {"entities": {"gene": [{"text": "S100A6", "start": 66, "end": 72}], "disease": [{"text": "medulloblastoma", "start": 134, "end": 149}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100A6", "start": 66, "end": 72}, "tail": {"text": "medulloblastoma", "start": 134, "end": 149}}]}}, "schema": []}
{"input": "The exaggerated BPD-like phenotype observed in hyperoxia-exposed LysM-Cre/Foxm1 (-/-) mice was associated with increased expression of neutrophil-derived myeloperoxidase, proteinase 3, and cathepsin g, all of which are critical for lung remodeling and inflammation.", "output": {"entities": {"gene": [{"text": "proteinase 3", "start": 171, "end": 183}], "disease": [{"text": "hyperoxia", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "The transformation of infected CD4 T cells and the pathogenesis of leukemia have been studied with great limitation in tissue culture and patients.", "output": {"entities": {"gene": [{"text": "CD4", "start": 31, "end": 34}], "disease": [{"text": "leukemia", "start": 67, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "In summary, our data show that dominant mutations in USP8 cause Cushing' s disease via activation of EGF receptor signaling.", "output": {"entities": {"gene": [{"text": "USP8", "start": 53, "end": 57}], "disease": [{"text": "Cushing' s disease", "start": 64, "end": 82}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USP8", "start": 53, "end": 57}, "tail": {"text": "Cushing' s disease", "start": 64, "end": 82}}]}}, "schema": []}
{"input": "These results confirm ATR, MED1, and CHK1 as targets of the mutator pathway in stomach tumorigenesis, and also suggest a potential role of MED1 increasing, together with hMSH3 and hMSH6, the genomic instability in the mutator pathway as a secondary mutator.", "output": {"entities": {"gene": [{"text": "MED1", "start": 27, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 87, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Patients with severe disease presented higher hemolysis and higher plasma concentrations of Cu/Zn superoxide dismutase (SOD-1) and lower concentrations of PGE (2) and TGF-beta than those with mild disease.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 167, "end": 175}], "disease": [{"text": "hemolysis", "start": 46, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.", "output": {"entities": {"gene": [{"text": "protective protein/cathepsin A", "start": 38, "end": 68}], "disease": [{"text": "galactosialidosis", "start": 118, "end": 135}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "protective protein/cathepsin A", "start": 38, "end": 68}, "tail": {"text": "galactosialidosis", "start": 118, "end": 135}}]}}, "schema": []}
{"input": "In conclusion, high incidence of EBV was observed in PTL among Koreans, with predilection for angiocentric lymphomas and extranodal presentation, especially involving nose, skin, and gastrointestinal tract.", "output": {"entities": {"gene": [{"text": "PTL", "start": 53, "end": 56}], "disease": [{"text": "lymphomas", "start": 107, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of orai1 with adenovirus harboring orai1 siRNA or inhibition of orai1 Ca (2 +) entry with SKF96365 for 4 weeks dramatically inhibits atherosclerotic plaque development in high-cholesterol diet feeding apolipoprotein E (-/-) mice.", "output": {"entities": {"gene": [{"text": "orai1", "start": 13, "end": 18}], "disease": [{"text": "adenovirus", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Biochemical analysis of liver extracts isolated from several rats showed that oral administration of BCAA (0. 75g/kg body weight (BW)) induced phosphorylation of 4E-BP1 and stimulated the enzymatic activity of p70 S6K.", "output": {"entities": {"gene": [{"text": "4E-BP1", "start": 162, "end": 168}], "disease": [{"text": "body weight", "start": 117, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Materials and METHODS: Tumor specimens and adjacent non-neoplastic tongue tissues from 74 patients with tongue carcinoma and human tongue carcinoma cell line Tca8113 were examined using immunohistochemistry and RT-PCR to determine the expressions of Notch1, Notch3, Jagged1, and Jagged2.", "output": {"entities": {"gene": [{"text": "Notch1", "start": 250, "end": 256}], "disease": [{"text": "non-neoplastic", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "However, a recent study reported the presence of MMR-deficiency in non-neoplastic colonic crypts in LS; thus the possibility can be raised that these crypts may be tumor precursors, and as such, biallelic loss of MMR may occur prior to neoplasia.", "output": {"entities": {"gene": [{"text": "MMR", "start": 49, "end": 52}], "disease": [{"text": "non-neoplastic", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Human monocyte chemoattractant protein (MCP)-4 is a novel CC chemokine with activities on monocytes, eosinophils, and basophils induced in allergic and nonallergic inflammation that signals through the CC chemokine receptors (CCR)-2 and-3.", "output": {"entities": {"gene": [{"text": "MCP", "start": 40, "end": 43}], "disease": [{"text": "inflammation", "start": 164, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Our data show that normal XX males, with alteration in copy number or, possibly, in the critical sequence upstream to SOX9 are a new category of infertility inherited in a dominant way with expression limited to the XX background.", "output": {"entities": {"gene": [{"text": "SOX9", "start": 118, "end": 122}], "disease": [{"text": "infertility", "start": 145, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Explicit role of peroxisome proliferator-activated receptor gamma in gallic acid-mediated protection against ischemia-reperfusion-induced acute kidney injury in rats.", "output": {"entities": {"gene": [{"text": "peroxisome proliferator-activated receptor gamma", "start": 17, "end": 65}], "disease": [{"text": "ischemia", "start": 109, "end": 117}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "peroxisome proliferator-activated receptor gamma", "start": 17, "end": 65}, "tail": {"text": "ischemia", "start": 109, "end": 117}}]}}, "schema": []}
{"input": "Our data showed that the presence of cytogenetic aberrations in successfully expanded HM-MSC stromal layers derives from the persistence of contaminating hemopoietic cells (HC), which is greatly supported by in vitro culture conditions that could mimic in vivo microenvironmental niche.", "output": {"entities": {"gene": [{"text": "MSC", "start": 89, "end": 92}], "disease": [{"text": "cytogenetic aberrations", "start": 37, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "Regulation of DDAH1 by miR-21 plays a role in the development of hypoxia-induced pulmonary hypertension and may be of broader significance in pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 23, "end": 29}], "disease": [{"text": "hypoxia", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that ICs on circulating CD4 + blood lymphocytes are primarily associated with CD4 + lymphocyte depletion whereas the plasma viral load is primarily associated with decreased T lymphocyte activation, lower CD16 + counts, and higher CD8 + DR + lymphocytes which might be the effector cells for virus elimination.", "output": {"entities": {"gene": [{"text": "CD16", "start": 222, "end": 226}], "disease": [{"text": "viral load", "start": 141, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.", "output": {"entities": {"gene": [{"text": "Foxo3a", "start": 40, "end": 46}], "disease": [{"text": "Obese", "start": 0, "end": 5}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Foxo3a", "start": 40, "end": 46}, "tail": {"text": "Obese", "start": 0, "end": 5}}]}}, "schema": []}
{"input": "Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic epilepsy model, the expressions of both P2X2 and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil.", "output": {"entities": {"gene": [{"text": "P2X4", "start": 139, "end": 143}], "disease": [{"text": "epilepsy", "start": 90, "end": 98}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P2X4", "start": 139, "end": 143}, "tail": {"text": "epilepsy", "start": 90, "end": 98}}]}}, "schema": []}
{"input": "NAT2 slow acetylator phenotype or genotype is related to reduced ability to detoxify these xenobiotics that are carcinogenic in tissues in which smoking-related cancers develop (e. g.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 145, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "In addition, by comparing sFRP1 methylation status in HCC tumours with normal, cirrhotic and chronic hepatitis liver tissues, we identified sFRP1 gene as a potential early marker of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 54, "end": 57}], "disease": [{"text": "chronic hepatitis", "start": 93, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Forty patients with known AD without evidence of autoimmune disease were screened for mutations in MC2R, MRAP and STAR.", "output": {"entities": {"gene": [{"text": "MC2R", "start": 99, "end": 103}], "disease": [{"text": "autoimmune disease", "start": 49, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "These findings indicate that ischemia and estradiol act synergistically to promote activation of STAT3 and STAT3-dependent transcription of survivin in insulted CA1 neurons and identify STAT3 and survivin as potentially important therapeutic targets in an in vivo model of global ischemia.", "output": {"entities": {"gene": [{"text": "CA1", "start": 161, "end": 164}], "disease": [{"text": "ischemia", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We found that the plasma HGF level in LEC rats rose markedly during the fulminant hepatitis phase, fell during the phase of chronic/cholangiofibrosis, and fluctuated during the hepatoma phase.", "output": {"entities": {"gene": [{"text": "HGF", "start": 25, "end": 28}], "disease": [{"text": "fulminant hepatitis", "start": 72, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Although the etiology of idiopathic sudden sensorineural hearing loss (SSNHL) remains unclear, the pathologically increased permeability of blood vessels, elucidated by gadolinium-enhanced magnetic resonance imaging (MRI), suggests the involvement of inflammation.", "output": {"entities": {"gene": [{"text": "MRI", "start": 217, "end": 220}], "disease": [{"text": "inflammation", "start": 251, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "Because of the small size of the series, HFE C282Y mutation should be investigated on a larger scale in patients with HCC in NCL with iron overload in order to confirm this association.", "output": {"entities": {"gene": [{"text": "NCL", "start": 125, "end": 128}], "disease": [{"text": "iron overload", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Opposite effects of GSTM1--and GSTT1: gene deletion variants on bone mineral density.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 20, "end": 25}], "disease": [{"text": "bone mineral density", "start": 64, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Patients with myasthenia gravis have antibodies and T cells that react with the beta1-and beta2-adrenergic receptors.", "output": {"entities": {"gene": [{"text": "beta2", "start": 90, "end": 95}], "disease": [{"text": "myasthenia gravis", "start": 14, "end": 31}]}, "relations": {}}, "schema": []}
{"input": "Group II was subdivided into GII-A (chronic hepatitis patients, n = 119), GII-B (post hepatitis cirrhosis, n = 66) and GII-C (HCC on top of cirrhosis, n = 71).", "output": {"entities": {"gene": [{"text": "HCC", "start": 126, "end": 129}], "disease": [{"text": "chronic hepatitis", "start": 36, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "We found a close relationship between pRB expression and PCNA in non-neoplastic mucosas as well as in gastric carcinomas.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 57, "end": 61}], "disease": [{"text": "non-neoplastic", "start": 65, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Claudin 5 showed only weak staining in VIN I and VIN II-III, and positive expression was also low in the carcinoma group.", "output": {"entities": {"gene": [{"text": "Claudin 5", "start": 0, "end": 9}], "disease": [{"text": "carcinoma", "start": 105, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "Using samples and data from 717 untreated participants in the Swiss HIV Cohort Study and a genome-wide association study design, we searched for human genetic determinants of plasma levels of intestinal fatty acid-binding protein (I-FABP/FABP2), a marker of gut damage, and of soluble CD14 (sCD14), a marker of lipopolysaccharide bioactivity and microbial translocation.", "output": {"entities": {"gene": [{"text": "FABP2", "start": 238, "end": 243}], "disease": [{"text": "translocation", "start": 356, "end": 369}]}, "relations": {}}, "schema": []}
{"input": "Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.", "output": {"entities": {"gene": [{"text": "ND6", "start": 94, "end": 97}], "disease": [{"text": "Leigh syndrome", "start": 33, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ND6", "start": 94, "end": 97}, "tail": {"text": "Leigh syndrome", "start": 33, "end": 47}}]}}, "schema": []}
{"input": "To determine the extent of somatic alteration involving BRCA2 in sporadic ovarian cancer, 50 tumors were analyzed for mutations throughout the entire BRCA2 coding region.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 56, "end": 61}], "disease": [{"text": "sporadic", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Regarding the TP53 Arg72Pro, we showed statistical significance for ProPro + ProArg comparing to ArgArg (OR 2. 34, 95%, CI 1. 17-4. 70) in hereditary compared to sporadic group.", "output": {"entities": {"gene": [{"text": "TP53", "start": 14, "end": 18}], "disease": [{"text": "sporadic", "start": 162, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Murine CASK is disrupted in a sex-linked cleft palate mouse mutant.", "output": {"entities": {"gene": [{"text": "CASK", "start": 7, "end": 11}], "disease": [{"text": "cleft palate", "start": 41, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CASK", "start": 7, "end": 11}, "tail": {"text": "cleft palate", "start": 41, "end": 53}}]}}, "schema": []}
{"input": "In conclusion, lncRNA BANCR plays a significant role in retinoblastoma aggressiveness and prognosis and may act as a promising target for therapeutic strategy and prognostic prediction.", "output": {"entities": {"gene": [{"text": "BANCR", "start": 22, "end": 27}], "disease": [{"text": "aggressiveness", "start": 71, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.", "output": {"entities": {"gene": [{"text": "AVPR2", "start": 51, "end": 56}], "disease": [{"text": "NDI", "start": 13, "end": 16}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AVPR2", "start": 51, "end": 56}, "tail": {"text": "NDI", "start": 13, "end": 16}}]}}, "schema": []}
{"input": "Noticeable decrease in microsomal protein level MOS terminal component--cytochrome P-450 and MOS median link--cytochrome b5 contents in microsomal fraction implicated in renal pathologic process was established in development of acute unilateral pyelonephritis.", "output": {"entities": {"gene": [{"text": "MOS", "start": 48, "end": 51}], "disease": [{"text": "pyelonephritis", "start": 246, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "In the present paper we tested the enrichment of molecular pathways related to inflammatory cascades (IL-1, IL-2, IL-6, IL-8, TNF and INF) testing whether genes related to these systems hold more variations associated with the risk for BD than expected.", "output": {"entities": {"gene": [{"text": "TNF", "start": 126, "end": 129}], "disease": [{"text": "BD", "start": 236, "end": 238}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 126, "end": 129}, "tail": {"text": "BD", "start": 236, "end": 238}}]}}, "schema": []}
{"input": "The effects of t10, c12-CLA and c9, t11-CLA on PTPgamma mRNA expression in human breast epithelial cells and stromal cells, isolated from surgical specimens of mammoplasty and breast cancer patients, were detected and quantified by RT-PCR RESULTS: The PTPgamma mRNA expression was lower in cancer than in normal breast cells.", "output": {"entities": {"gene": [{"text": "t11", "start": 36, "end": 39}], "disease": [{"text": "breast cancer", "start": 176, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Collectively, the data argue for a dosage effect of Tg737 on the limb phenotypes and that the polydactyly is independent of Shh misexpression.", "output": {"entities": {"gene": [{"text": "Tg737", "start": 52, "end": 57}], "disease": [{"text": "polydactyly", "start": 94, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Tg737", "start": 52, "end": 57}, "tail": {"text": "polydactyly", "start": 94, "end": 105}}]}}, "schema": []}
{"input": "Radiation dose was associated with noncardia gastric cancer in subjects with both the LTA 252G-allele and never smoking/quit smoking histories (RR = 3. 8 (95% CI: 1. 7-5. 9), p =. 009).", "output": {"entities": {"gene": [{"text": "LTA", "start": 86, "end": 89}], "disease": [{"text": "smoking", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Restoration of ING4 may be a novel strategy for the treatment of metastatic CRC.", "output": {"entities": {"gene": [{"text": "ING4", "start": 15, "end": 19}], "disease": [{"text": "CRC", "start": 76, "end": 79}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ING4", "start": 15, "end": 19}, "tail": {"text": "CRC", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "In this study, we comprehensively characterized the dysplasia, histological malformations, and genetic changes of ARMs & hypospadias in male rats after maternal exposure to di-n-butyl phthalate (DBP) by gastric intubation at doses of 850mg/kg bw/day during GD11-15.", "output": {"entities": {"gene": [{"text": "DBP", "start": 195, "end": 198}], "disease": [{"text": "malformations", "start": 76, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The identification of Bmp15 and Gdf9 gene mutations as the causal mechanism underlying the highly prolific or infertile nature of several sheep strains in a dosage-sensitive manner also highlighted the crucial role these two genes play in ovarian function.", "output": {"entities": {"gene": [{"text": "Gdf9 gene", "start": 32, "end": 41}], "disease": [{"text": "infertile", "start": 110, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In vitro VEGF exposure of normal PBMC lead to repolarization from Th1 to Th2 emulating the state of metastatic melanoma.", "output": {"entities": {"gene": [{"text": "Th1", "start": 66, "end": 69}], "disease": [{"text": "metastatic melanoma", "start": 100, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Intratumoral administration of IL-4-PE caused significant regression of established tumors in a dose dependent manner and increased the overall survival without any visible toxicity.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 31, "end": 35}], "disease": [{"text": "regression", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we found less mesangial hypertrophy in STZ-treated Gas6 knockout mice than control mice.", "output": {"entities": {"gene": [{"text": "STZ", "start": 49, "end": 52}], "disease": [{"text": "hypertrophy", "start": 34, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.", "output": {"entities": {"gene": [{"text": "Membrane cofactor protein", "start": 0, "end": 25}], "disease": [{"text": "HELLP syndrome", "start": 128, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Membrane cofactor protein", "start": 0, "end": 25}, "tail": {"text": "HELLP syndrome", "start": 128, "end": 142}}]}}, "schema": []}
{"input": "Tumours were investigated by means of immunohistochemistry, RT-PCR (EWSR1-FLI1, EWSR1-ERG and EWSR1-FEV transcripts), FISH analysis (EWSR1 break-apart and specific EWSR1-FEV translocation) and spectral karyotyping (SKY).", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 68, "end": 73}], "disease": [{"text": "translocation", "start": 174, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Similarly, we found that HMGA1a and COX-2 are overexpressed in human leiomyosarcomas, a highly malignant uterine cancer.", "output": {"entities": {"gene": [{"text": "HMGA1a", "start": 25, "end": 31}], "disease": [{"text": "leiomyosarcomas", "start": 69, "end": 84}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGA1a", "start": 25, "end": 31}, "tail": {"text": "leiomyosarcomas", "start": 69, "end": 84}}]}}, "schema": []}
{"input": "None of the tested DENND1A variants were associated with PCOS features (hirsutism, insulin sensitivity, menses pattern, free testosterone, and free androgen index).", "output": {"entities": {"gene": [{"text": "DENND1A", "start": 19, "end": 26}], "disease": [{"text": "hirsutism", "start": 72, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Our results have identified miR-210 as a hypoxia-inducible miRNA both in vitro and in vivo, which inhibits pulmonary vascular smooth muscle cell apoptosis in hypoxia by specifically repressing E2F3 expression.", "output": {"entities": {"gene": [{"text": "E2F3", "start": 193, "end": 197}], "disease": [{"text": "hypoxia", "start": 41, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "To our knowledge, this is the second report of the translocation involving NUP98 and TOP1 genes in AMoL.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 75, "end": 80}], "disease": [{"text": "translocation", "start": 51, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, polymorphisms of GSTT1, EPHX1, MTHFR, MTR and NAT2 differentially affect the frequency of CTAs, CSAs and CTGs, showing interaction with smoking and age.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 61, "end": 65}], "disease": [{"text": "smoking", "start": 151, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "A novel t (4; 22) (q31; q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 41, "end": 46}], "disease": [{"text": "extraskeletal Ewing sarcoma", "start": 65, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EWSR1", "start": 41, "end": 46}, "tail": {"text": "extraskeletal Ewing sarcoma", "start": 65, "end": 92}}]}}, "schema": []}
{"input": "Testosterone exposure has been implicated in prostate carcinogenesis, and genes that alter its metabolism, such as CYP3A4, have been associated with prostate cancer susceptibility.", "output": {"entities": {"gene": [{"text": "CYP3A4", "start": 115, "end": 121}], "disease": [{"text": "prostate cancer susceptibility", "start": 149, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Mutations within the LIM domain gene LHX3 are associated with a recessive phenotype characterised by deficiencies in GH, thyroid-stimulating hormone (TSH), luteinising hormone (LH) and follicle-stimulating hormone (FSH) with sparing of the corticotrophs, in association with a short stiff neck with limited rotation.", "output": {"entities": {"gene": [{"text": "LHX3", "start": 37, "end": 41}], "disease": [{"text": "stiff neck", "start": 283, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "To investigate whether PI3K contributes to patterns of risky alcohol drinking in human, we investigated genetic variations in PIK3R1, encoding the 85 kD regulatory subunit of PIK, in 145 family trios consisting of 15-16 year old adolescents and their parents.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 23, "end": 27}], "disease": [{"text": "alcohol drinking", "start": 61, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The effect of Sema3E on prostate cancer cell lines was determined by adhesion assays and transwell migration assays.", "output": {"entities": {"gene": [{"text": "Sema3E", "start": 14, "end": 20}], "disease": [{"text": "adhesion", "start": 69, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID.", "output": {"entities": {"gene": [{"text": "ARID1B", "start": 0, "end": 6}], "disease": [{"text": "mild", "start": 71, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Induction of glucose-regulated protein 78 by chronic hypoxia in human gastric tumor cells through a protein kinase C-epsilon/ERK/AP-1 signaling cascade.", "output": {"entities": {"gene": [{"text": "AP-1", "start": 129, "end": 133}], "disease": [{"text": "hypoxia", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The association of MID1 with OS suggests an important role for this gene in midline development.", "output": {"entities": {"gene": [{"text": "MID1", "start": 19, "end": 23}], "disease": [{"text": "OS", "start": 29, "end": 31}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MID1", "start": 19, "end": 23}, "tail": {"text": "OS", "start": 29, "end": 31}}]}}, "schema": []}
{"input": "Our preliminary results suggest that vaginal progesterone might prevent spontaneous preterm labor through a mechanism involving anti-inflammatory effects on UCFs, particularly suppression of IL-6 production.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 191, "end": 195}], "disease": [{"text": "preterm labor", "start": 84, "end": 97}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IL-6", "start": 191, "end": 195}, "tail": {"text": "preterm labor", "start": 84, "end": 97}}]}}, "schema": []}
{"input": "Mutations in the FSH receptor (FSHR) could be activating, leading to a predisposition to OHSS, or inactivating, resulting in sterility.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 31, "end": 35}], "disease": [{"text": "sterility", "start": 125, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the mechanism of fractalkine (FKN)/CX3 CL1 synthesis and shedding in rheumatoid arthritis synovial fibroblasts (RASFs) and in rat adjuvant-induced arthritis (AIA).", "output": {"entities": {"gene": [{"text": "CL1", "start": 51, "end": 54}], "disease": [{"text": "arthritis", "start": 92, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Dominant-negative Cdc42, introduced with a retroviral vector, resulted in fibers that appeared atrophic.", "output": {"entities": {"gene": [{"text": "Cdc42", "start": 18, "end": 23}], "disease": [{"text": "atrophic", "start": 95, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.", "output": {"entities": {"gene": [{"text": "RDS", "start": 40, "end": 43}], "disease": [{"text": "retinitis punctata albescens", "start": 85, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RDS", "start": 40, "end": 43}, "tail": {"text": "retinitis punctata albescens", "start": 85, "end": 113}}]}}, "schema": []}
{"input": "Clinical evaluations including alcohol consumption, percentage of alcohol drinkers, plasma glucose, HbA1c, insulin, AST, ALT, gamma-GTP, and prevalence of diabetes were compared among the ADH2 genotypes.", "output": {"entities": {"gene": [{"text": "AST", "start": 116, "end": 119}], "disease": [{"text": "alcohol consumption", "start": 31, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.", "output": {"entities": {"gene": [{"text": "fibroblast growth factor receptor-2", "start": 52, "end": 87}], "disease": [{"text": "Crouzon syndrome", "start": 96, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "fibroblast growth factor receptor-2", "start": 52, "end": 87}, "tail": {"text": "Crouzon syndrome", "start": 96, "end": 112}}]}}, "schema": []}
{"input": "Olanzapine-induced weight gain is associated with the-759C/T and-697G/C polymorphisms of the HTR2C gene.", "output": {"entities": {"gene": [{"text": "HTR2C", "start": 93, "end": 98}], "disease": [{"text": "weight gain", "start": 19, "end": 30}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HTR2C", "start": 93, "end": 98}, "tail": {"text": "weight gain", "start": 19, "end": 30}}]}}, "schema": []}
{"input": "Data about patient characteristics, response to and outcome after primary therapy, including chemotherapy, were collected from 99 BRCA1, 13 BRCA2 and 222 sporadic patients.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 140, "end": 145}], "disease": [{"text": "sporadic", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "To determine the frequency and nature of constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma, we analyzed DNA from peripheral blood and from tumor tissue.", "output": {"entities": {"gene": [{"text": "RB1", "start": 56, "end": 59}], "disease": [{"text": "retinoblastoma", "start": 112, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 56, "end": 59}, "tail": {"text": "retinoblastoma", "start": 112, "end": 126}}]}}, "schema": []}
{"input": "These results indicate that the t (1; 19) translocation converts a nonactivating DNA-binding protein into a potent transcriptional activator, suggesting an unusual mechanism for oncogenic transformation.", "output": {"entities": {"gene": [{"text": "DNA-binding protein", "start": 81, "end": 100}], "disease": [{"text": "translocation", "start": 42, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "Ectopic miR-125a-3p expression with chemotherapy attenuated silica-induced pulmonary fibrosis.", "output": {"entities": {"gene": [{"text": "miR-125a", "start": 8, "end": 16}], "disease": [{"text": "pulmonary fibrosis", "start": 75, "end": 93}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-125a", "start": 8, "end": 16}, "tail": {"text": "pulmonary fibrosis", "start": 75, "end": 93}}]}}, "schema": []}
{"input": "Likewise, the defective adenovirus-anti-bcl-2 ribozyme induces extensive apoptosis in several androgen-sensitive (LNCaP) and androgen-insensitive (LNCaP/bcl-2 and PC-3) human prostate cancer cell lines that express differing amounts of bcl-2 protein.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 163, "end": 167}], "disease": [{"text": "adenovirus", "start": 24, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we tested the hypothesis that AhR-deficient fetal human pulmonary microvascular endothelial cells (HPMEC) will have decreased RelB activation and AOE, which will in turn predispose them to increased oxidative stress, inflammation, and cell death compared to AhR-sufficient HPMEC upon exposure to hyperoxia.", "output": {"entities": {"gene": [{"text": "RelB", "start": 137, "end": 141}], "disease": [{"text": "inflammation", "start": 228, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "DRB1 * 0401 and DRB1 * 01 tend to be associated with anti-citrullinated fibrinogen, but this is not statistically significant.", "output": {"entities": {"gene": [{"text": "DRB1", "start": 0, "end": 4}], "disease": [{"text": "fibrinogen", "start": 72, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Daily injection of the antagonist, MCP-1 (9-76), prevented the onset of arthritis as monitored by measuring joint swelling and by histopathological evaluation of the joints.", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 35, "end": 40}], "disease": [{"text": "joint swelling", "start": 108, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Here, we studied a rat model of mild-to-moderate SAH intended to minimize ischemia/hypoxia to examine the role of sulfonylurea receptor 1 (SUR1) in the inflammatory response induced by SAH.", "output": {"entities": {"gene": [{"text": "SUR1", "start": 139, "end": 143}], "disease": [{"text": "hypoxia", "start": 83, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "By suppressing the phosphoinositide 3-kinase (PI3K)-AKT-mammalian target of rapamycin (mTOR) pathway through its lipid phosphatase activity, PTEN governs a plethora of cellular processes including survival, proliferation, energy metabolism and cellular architecture.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 46, "end": 50}], "disease": [{"text": "plethora", "start": 156, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that: 1) the prevalence of K-ras and p53 genetic alterations found in ulcerative colitis-associated colonic carcinomas appears to be lower than in sporadic carcinomas; 2) K-ras mutations can be detected in dysplasia, villous regeneration, and active colitis and affect a subpopulation of the cells composing the lesions; 3) diverse genetic alterations can be detected in the same patient and the dysplastic lesions can exhibit a different genotype than the carcinomas; and 4) at least part of active colitis and villous regeneration lesions should be considered as preneoplastic in ulcerative colitis.", "output": {"entities": {"gene": [{"text": "p53", "start": 58, "end": 61}], "disease": [{"text": "sporadic", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Expression of cell cycle-regulating genes was studied in human myeloid leukemia cell lines ML-1, ML-2 and ML-3 during induction of differentiation in vitro.", "output": {"entities": {"gene": [{"text": "ML-1", "start": 91, "end": 95}], "disease": [{"text": "myeloid leukemia", "start": 63, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The majority of the SMC (15) s were shown to have asymmetrical breakpoints, with the two inverted arms of the SMC being unequal in length.", "output": {"entities": {"gene": [{"text": "SMC", "start": 20, "end": 23}], "disease": [{"text": "arms", "start": 98, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our data provide evidence that miR-145 is an invasion suppressor in metastatic melanoma cells.", "output": {"entities": {"gene": [{"text": "miR-145", "start": 46, "end": 53}], "disease": [{"text": "metastatic melanoma", "start": 83, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.", "output": {"entities": {"gene": [{"text": "iduronate-2-sulfatase", "start": 164, "end": 185}], "disease": [{"text": "Hunter syndrome", "start": 54, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "iduronate-2-sulfatase", "start": 164, "end": 185}, "tail": {"text": "Hunter syndrome", "start": 54, "end": 69}}]}}, "schema": []}
{"input": "Subtle decreases in DNA methylation and gene expression at the mouse Igf2 locus following prenatal alcohol exposure: effects of a methyl-supplemented diet.", "output": {"entities": {"gene": [{"text": "Igf2", "start": 69, "end": 73}], "disease": [{"text": "prenatal alcohol exposure", "start": 90, "end": 115}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Igf2", "start": 69, "end": 73}, "tail": {"text": "prenatal alcohol exposure", "start": 90, "end": 115}}]}}, "schema": []}
{"input": "In this study, we retrospectively evaluated the prognostic and predictive impact of c-kit in a high risk subgroup of breast cancer patients (> 9 axillary node metastases) who received high-dose (HDCT) or dose-dense (DDCT) conventional chemotherapy and correlated these findings with the expression of the basal-type markers CK5 and CK 17, estrogen (ER) and progesterone (PR) receptor, Her-2/neu and MIB 1.", "output": {"entities": {"gene": [{"text": "DDCT", "start": 216, "end": 220}], "disease": [{"text": "metastases", "start": 159, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.", "output": {"entities": {"gene": [{"text": "WNT10A", "start": 12, "end": 18}], "disease": [{"text": "odonto-onycho-dermal dysplasia", "start": 87, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WNT10A", "start": 12, "end": 18}, "tail": {"text": "odonto-onycho-dermal dysplasia", "start": 87, "end": 117}}]}}, "schema": []}
{"input": "Since, the risk of developing gonadoblastoma in TS patients with mosaicism for a Y derivative chromosome and because association of alopecia universalis and TS is uncommon, fluorescence in situ hybridization (FISH) was performed to search for a second cell population.", "output": {"entities": {"gene": [{"text": "FISH", "start": 209, "end": 213}], "disease": [{"text": "gonadoblastoma", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "Point mutations or deletion copy number variants of the PAFAH1B1 gene in this genomic region cause lissencephaly, whereas extended deletions involving both PAFAH1B1 and YWHAE result in Miller-Dieker syndrome characterised by facial dysmorphisms and a more severe grade of lissencephaly.", "output": {"entities": {"gene": [{"text": "YWHAE", "start": 169, "end": 174}], "disease": [{"text": "Miller-Dieker syndrome", "start": 185, "end": 207}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "YWHAE", "start": 169, "end": 174}, "tail": {"text": "Miller-Dieker syndrome", "start": 185, "end": 207}}]}}, "schema": []}
{"input": "RPS6KB1 and CDC2 overexpression is common in DLBCL.", "output": {"entities": {"gene": [{"text": "RPS6KB1", "start": 0, "end": 7}], "disease": [{"text": "DLBCL", "start": 45, "end": 50}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RPS6KB1", "start": 0, "end": 7}, "tail": {"text": "DLBCL", "start": 45, "end": 50}}]}}, "schema": []}
{"input": "These abnormalities may be genetically determined, as suggested by the association of a microsatellite flanking the HSD11B2 gene with hypertension in black patients with end-stage kidney disease and with salt sensitivity of blood pressure in healthy subjects.", "output": {"entities": {"gene": [{"text": "HSD11B2 gene", "start": 116, "end": 128}], "disease": [{"text": "blood pressure", "start": 224, "end": 238}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.", "output": {"entities": {"gene": [{"text": "SERAC1", "start": 46, "end": 52}], "disease": [{"text": "deafness", "start": 148, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SERAC1", "start": 46, "end": 52}, "tail": {"text": "deafness", "start": 148, "end": 156}}]}}, "schema": []}
{"input": "Consistent with the severe neurodegeneration in the CA1 sector, significant decreases in alpha1-, alpha3-, beta3-, and gamma2-subunit immunoreactivity (IR) were detected in sclerotic but not in nonsclerosic specimens.", "output": {"entities": {"gene": [{"text": "beta3", "start": 107, "end": 112}], "disease": [{"text": "neurodegeneration", "start": 27, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "These results implicate PODXL as a candidate prostate cancer tumor aggressiveness gene mapping to chromosome 7q32-q33.", "output": {"entities": {"gene": [{"text": "PODXL", "start": 24, "end": 29}], "disease": [{"text": "prostate cancer", "start": 45, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PODXL", "start": 24, "end": 29}, "tail": {"text": "prostate cancer", "start": 45, "end": 60}}]}}, "schema": []}
{"input": "Both participants experienced viremia of less than 4000 RNA copies/ml with preserved CD4 (+) T-cell counts off antiretroviral therapy for at least 3. 3 and 4. 6 years after diagnosis, respectively.", "output": {"entities": {"gene": [{"text": "CD4", "start": 85, "end": 88}], "disease": [{"text": "viremia", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Our study confirmed the expected cognitive decline and highly frequent delirium after bypass heart surgery and excluded the possible role of SOAT-1 genotype polymorphisms in their genesis.", "output": {"entities": {"gene": [{"text": "SOAT", "start": 141, "end": 145}], "disease": [{"text": "delirium", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "However, a subset of XX sex reversed male individuals exists without a translocation of SRY deoxyribonucleic acid (DNA) material to the X chromosome.", "output": {"entities": {"gene": [{"text": "SRY", "start": 88, "end": 91}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Thus, the variations in the ARP trinucleotide repeat region represent normal polymorphisms rather than tumor-specific mutations.", "output": {"entities": {"gene": [{"text": "ARP", "start": 28, "end": 31}], "disease": [{"text": "tumor", "start": 103, "end": 108}]}, "relations": {}}, "schema": []}
{"input": "In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.", "output": {"entities": {"gene": [{"text": "PSD95", "start": 40, "end": 45}], "disease": [{"text": "major depression", "start": 122, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD95", "start": 40, "end": 45}, "tail": {"text": "major depression", "start": 122, "end": 138}}]}}, "schema": []}
{"input": "Expression of matriptase, as determined by Western blot analysis, was observed in primary human breast, gynecological, and colon carcinomas, but not in stromal-derived ovarian tumors and human sarcomas of various origins and histological grades.", "output": {"entities": {"gene": [{"text": "matriptase", "start": 14, "end": 24}], "disease": [{"text": "sarcomas", "start": 193, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "For detection of either or both infections, the HC2 CT/GC test algorithm had 93. 8% sensitivity and 95. 9% specificity compared to those of culture.", "output": {"entities": {"gene": [{"text": "HC2", "start": 48, "end": 51}], "disease": [{"text": "infections", "start": 32, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Because the clinical toxicity of L-ASP is thought to stem from its glutaminase activity, these findings suggest the hypothesis that glutaminase-negative variants of L-ASP would provide larger therapeutic indices than wild-type L-ASP for ASNS-negative cancers.", "output": {"entities": {"gene": [{"text": "ASNS", "start": 237, "end": 241}], "disease": [{"text": "cancers", "start": 251, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "The SAH alleles-1606A and 359N, but not-962ins/del, displayed a raising effect on body mass index (BMI; P = 0. 004 and P = 0. 030, respectively) in hypertensive as well as in control individuals.", "output": {"entities": {"gene": [{"text": "SAH", "start": 4, "end": 7}], "disease": [{"text": "body mass index", "start": 82, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Here we report the identification of two new XP-B patients: XPCS1BA and XPCS2BA (siblings), by microneedle injection of the cloned ERCC3 repair gene as well as by cell hybridization.", "output": {"entities": {"gene": [{"text": "ERCC3", "start": 131, "end": 136}], "disease": [{"text": "XP-B", "start": 45, "end": 49}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ERCC3", "start": 131, "end": 136}, "tail": {"text": "XP-B", "start": 45, "end": 49}}]}}, "schema": []}
{"input": "The serotonin 5-HT (7) receptor has been linked to various psychiatric disorders, including schizophrenia, anxiety and depression, and is antagonized by antipsychotics such as risperidone, clozapine and lurasidone.", "output": {"entities": {"gene": [{"text": "5-HT (7", "start": 14, "end": 21}], "disease": [{"text": "depression", "start": 119, "end": 129}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (7", "start": 14, "end": 21}, "tail": {"text": "depression", "start": 119, "end": 129}}]}}, "schema": []}
{"input": "Our study confirmed the expected cognitive decline and highly frequent delirium after bypass heart surgery and excluded the possible role of SOAT-1 genotype polymorphisms in their genesis.", "output": {"entities": {"gene": [{"text": "SOAT", "start": 141, "end": 145}], "disease": [{"text": "cognitive decline", "start": 33, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Tumor-necrosis factor (TNF)-α, likewise, induces ICAM-1, VCAM-1 and M-CSF, and amplifies the mesangial response to poly (I: C).", "output": {"entities": {"gene": [{"text": "M-CSF", "start": 68, "end": 73}], "disease": [{"text": "necrosis", "start": 6, "end": 14}]}, "relations": {}}, "schema": []}
{"input": "Indeed, vessel wall elements produce high amounts of PTX3 during inflammation and the levels of circulating PTX3 increase in several pathological conditions affecting the cardiovascular system.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 53, "end": 57}], "disease": [{"text": "inflammation", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "The functional NEDD4L rs4149601 polymorphism influences the efficacy of β-blocker and/or diuretic-based antihypertensive treatment both in terms of blood pressure reduction and cardiovascular disease protection, whereas diltiazem-based antihypertensive treatment efficacy is not influenced by this NEDD4L polymorphism.", "output": {"entities": {"gene": [{"text": "NEDD4L", "start": 15, "end": 21}], "disease": [{"text": "blood pressure", "start": 148, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we employed a retroviral infection system to stably express human P450c17 in the primary cultures of fibroblast cells from the PCOS patients and controls and measured the resulting 17alpha-hydroxylase and 17, 20-lyase activity.", "output": {"entities": {"gene": [{"text": "P450c17", "start": 77, "end": 84}], "disease": [{"text": "retroviral infection", "start": 25, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to assess the strength of the association between a family history of premature CHD and coronary artery calcification (CAC) in a multiethnic cohort of asymptomatic individuals.", "output": {"entities": {"gene": [{"text": "CAC", "start": 149, "end": 152}], "disease": [{"text": "coronary artery calcification", "start": 118, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "We concluded that heterozygosity for DR3-DQ2/DR4-DQ8 and to some extent homozygosity for TNFa2/2 were risk factors for autoimmune diabetes irrespective of the clinical classification.", "output": {"entities": {"gene": [{"text": "DQ2", "start": 41, "end": 44}], "disease": [{"text": "autoimmune diabetes", "start": 119, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "Mutations in BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancers, and therefore sequence analysis of both genes is routinely conducted in patients with early-onset breast cancer.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 13, "end": 18}], "disease": [{"text": "breast cancer", "start": 194, "end": 207}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 13, "end": 18}, "tail": {"text": "breast cancer", "start": 194, "end": 207}}]}}, "schema": []}
{"input": "We found no significant association of schizophrenia with this bi-nucleotide repeat polymorphism of the EN2 gene.", "output": {"entities": {"gene": [{"text": "EN2", "start": 104, "end": 107}], "disease": [{"text": "schizophrenia", "start": 39, "end": 52}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EN2", "start": 104, "end": 107}, "tail": {"text": "schizophrenia", "start": 39, "end": 52}}]}}, "schema": []}
{"input": "Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms.", "output": {"entities": {"gene": [{"text": "matrix metalloproteinase 9", "start": 27, "end": 53}], "disease": [{"text": "thoracic aortic aneurysms", "start": 84, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "matrix metalloproteinase 9", "start": 27, "end": 53}, "tail": {"text": "thoracic aortic aneurysms", "start": 84, "end": 109}}]}}, "schema": []}
{"input": "We analyzed 62 genotyped variants within the selected genes (BDNF, NTRK2, SLC6A4, TPH2, P2RX7, DAOA, COMT, DISC1, and MAOA) against the presence of mood disorder, and in post-hoc analyses, specifically against bipolar disorder or major depressive disorder.", "output": {"entities": {"gene": [{"text": "NTRK2", "start": 67, "end": 72}], "disease": [{"text": "major depressive disorder", "start": 230, "end": 255}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NTRK2", "start": 67, "end": 72}, "tail": {"text": "major depressive disorder", "start": 230, "end": 255}}]}}, "schema": []}
{"input": "Inasmuch as MUC7 is found exclusively in serous glands, the findings suggest that serous glands are not found in polyps in the anterior third of the nose.", "output": {"entities": {"gene": [{"text": "MUC7", "start": 12, "end": 16}], "disease": [{"text": "polyps", "start": 113, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Mononuclear cells expressing IFN-gamma and IL-4 mRNA were aggregated in inflamed portal tracts in PBC livers, but were rarely present in extrahepatic biliary obstruction, alcoholic fibrosis, or normal liver sections.", "output": {"entities": {"gene": [{"text": "IFN", "start": 29, "end": 32}], "disease": [{"text": "extrahepatic biliary obstruction", "start": 137, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to investigate relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and phenotype (conversion of odorous trimethylamine into non-odorous trimethylamine N-oxide) in a large Japanese cohort suffering from trimethylaminuria.", "output": {"entities": {"gene": [{"text": "FMO3", "start": 99, "end": 103}], "disease": [{"text": "mono", "start": 81, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "It is suggested that the whole-cell pertussis present in DTP vaccine, acting as an excessive stimulus in these patients, produced symptoms reminiscent of biologic responses to circulating proinflammatory monokines such as IL-1beta, TNF-alpha, and IL-6 because earlier it was reported that in vitro the whole-cell vaccine induced significantly more such cytokine production than did the acellular pertussis or diphtheria-tetanus-only vaccine.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 232, "end": 241}], "disease": [{"text": "pertussis", "start": 36, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Inhibition of ROS production by N-acetyl-L-cysteine and catalase prevented necrosis and switched the cell death mode to apoptosis that depends on mitochondrial death pathway involving caspase-9 and caspase-3 activation, indicating a critical role of ROS in determination of GD-induced cell death mode.", "output": {"entities": {"gene": [{"text": "catalase", "start": 56, "end": 64}], "disease": [{"text": "necrosis", "start": 75, "end": 83}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "catalase", "start": 56, "end": 64}, "tail": {"text": "necrosis", "start": 75, "end": 83}}]}}, "schema": []}
{"input": "Animals submitted to ischemia showed a marked increase of alanine aminotransferase and aspartate aminotransferase after reperfusion, but with lower levels in CAPE group.", "output": {"entities": {"gene": [{"text": "CAPE", "start": 158, "end": 162}], "disease": [{"text": "ischemia", "start": 21, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Considering that both monosomy and trisomy for 11q22-qter are unviable, his offspring may inherit either the PAX6 mutation or the balanced translocation.", "output": {"entities": {"gene": [{"text": "PAX6", "start": 109, "end": 113}], "disease": [{"text": "trisomy", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "We recently reported that two of six HLA-DP supertypes (DP1-4, 6, 8) were associated with susceptibility (DP2) and resistance (DP1) to childhood acute lymphoblastic leukaemia (ALL).", "output": {"entities": {"gene": [{"text": "DP1", "start": 56, "end": 59}], "disease": [{"text": "acute lymphoblastic leukaemia", "start": 145, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Guided by results from transcriptional profiling, we identified the selective induction of fibroblast integrin beta1 (ITGB1) by hypoxia.", "output": {"entities": {"gene": [{"text": "ITGB1", "start": 118, "end": 123}], "disease": [{"text": "hypoxia", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Deletion of regions on chromosome 13q containing the BRCA2 and RB1 genes has also been reported in sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 53, "end": 58}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis.", "output": {"entities": {"gene": [{"text": "FISH", "start": 197, "end": 201}], "disease": [{"text": "developmental retardation", "start": 66, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Secretory phospholipases (sPLA2) are associated with inflammation, hyperlipidemia and atherosclerosis.", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 26, "end": 31}], "disease": [{"text": "inflammation", "start": 53, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "C5orf30", "start": 21, "end": 28}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "C5orf30", "start": 21, "end": 28}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "To explore the genetic interactions between loss of Men1 and activation of CDKs, we examined the impact of Cdk4 or Cdk2 disruption on tumorigenesis in Men1 (+/-) mice.", "output": {"entities": {"gene": [{"text": "Cdk2", "start": 115, "end": 119}], "disease": [{"text": "tumorigenesis", "start": 134, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "The 6p21-p22 chromosomal region has been identified as a developmental dyslexia locus both in linkage and association studies, the latter generating evidence for the doublecortin domain containing 2 (DCDC2) as a candidate gene at this locus (and also for KIAA0319).", "output": {"entities": {"gene": [{"text": "p22", "start": 9, "end": 12}], "disease": [{"text": "developmental dyslexia", "start": 57, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The Neph1 (-/-) animals that survived beyond the first week of life were sickly and small but without edema, and all died between 3 and 8 weeks of age.", "output": {"entities": {"gene": [{"text": "Neph1", "start": 4, "end": 9}], "disease": [{"text": "edema", "start": 102, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "BRCA2 is not expressed in the non-dividing cells, and expression is cell cycle stage-dependent and is elevated in the sporadic cancer cells.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 0, "end": 5}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "This suggests an involvement of BRCA2 and putative BRCA3 in colon tumorigenesis in right-sided, replication error-negative, Dukes' stage C cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 32, "end": 37}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Recently, much interest have been focused on the role of INI-1, a partner gene of transfusion protein All-1 for leukemogenesis of acute leukemia cases.", "output": {"entities": {"gene": [{"text": "INI", "start": 57, "end": 60}], "disease": [{"text": "acute leukemia", "start": 130, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Hypoxia-regulated carbonic anhydrase-9 (CA9) relates to poor vascularization and resistance of squamous cell head and neck cancer to chemoradiotherapy.", "output": {"entities": {"gene": [{"text": "CA9", "start": 40, "end": 43}], "disease": [{"text": "vascularization", "start": 61, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Our data suggest that down-regulation of 4. 1N expression is a critical step for NSCLC development and that repression of JNK-c-Jun signaling through PP1 is one of the key anti-tumor mechanisms of 4. 1N.", "output": {"entities": {"gene": [{"text": "4. 1N", "start": 197, "end": 202}], "disease": [{"text": "tumor", "start": 177, "end": 182}]}, "relations": {}}, "schema": []}
{"input": "RNA-seq analysis revealed that K14 (+) cells were enriched for desmosome and hemidesmosome adhesion complex genes, and were depleted for MHC class II genes.", "output": {"entities": {"gene": [{"text": "K14", "start": 31, "end": 34}], "disease": [{"text": "adhesion", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "We genotyped single-nucleotide polymorphisms of the renalase gene in 507 ischemic stroke patients and 503 gender-matched controls from a northern Chinese Han population, and we classified these case samples in depth by complications with diabetes or hypertension and by ischemic stroke subtypes.", "output": {"entities": {"gene": [{"text": "renalase", "start": 52, "end": 60}], "disease": [{"text": "diabetes", "start": 238, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "In the light of our results obtained with this polymorphism in schizophrenia, we speculate that the MMP-9 gene may be a common susceptibility gene to major psychoses with different allelic variants occurring in bipolar illness and schizophrenia.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 100, "end": 105}], "disease": [{"text": "bipolar illness", "start": 211, "end": 226}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 100, "end": 105}, "tail": {"text": "bipolar illness", "start": 211, "end": 226}}]}}, "schema": []}
{"input": "Six weeks after STZ injection, impairment of left ventricular (LV) function parameters measured by a Millar-tip catheter (peak LV systolic pressure; dP/dtmax; dP/dtmin) was accompanied by a significant increment of ICAM-1 and VCAM-1 (CAMs) expression, as well as of beta2-leukocyte-integrins + (CD18 +, CD11a +, CD11b +) and cytokine (TNF-alpha and IL-1beta)-expressing infiltrates in male Sprague-Dawley (SD-STZ) rats compared with normoglycemic littermates.", "output": {"entities": {"gene": [{"text": "STZ", "start": 16, "end": 19}], "disease": [{"text": "systolic pressure", "start": 130, "end": 147}]}, "relations": {}}, "schema": []}
{"input": "Clinical reports have described the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations.", "output": {"entities": {"gene": [{"text": "SMARCB1", "start": 133, "end": 140}], "disease": [{"text": "schwannomatosis", "start": 78, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMARCB1", "start": 133, "end": 140}, "tail": {"text": "schwannomatosis", "start": 78, "end": 93}}]}}, "schema": []}
{"input": "Increased expression of activated pSTAT3 and PIM-1 in the pulmonary vasculature of experimental congenital diaphragmatic hernia.", "output": {"entities": {"gene": [{"text": "PIM-1", "start": 45, "end": 50}], "disease": [{"text": "diaphragmatic hernia", "start": 107, "end": 127}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PIM-1", "start": 45, "end": 50}, "tail": {"text": "diaphragmatic hernia", "start": 107, "end": 127}}]}}, "schema": []}
{"input": "ORF74 upregulated the expression of NF-kappaB-dependent inflammatory cytokines (RANTES, IL-6, IL-8, and granulocyte-macrophage colony-stimulating factor) and adhesion molecules (VCAM-1, ICAM-1, and E-selectin).", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 36, "end": 45}], "disease": [{"text": "adhesion", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "A novel arginine--& gt; Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "EDA1", "start": 43, "end": 47}], "disease": [{"text": "anhidrotic ectodermal dysplasia", "start": 83, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EDA1", "start": 43, "end": 47}, "tail": {"text": "anhidrotic ectodermal dysplasia", "start": 83, "end": 114}}]}}, "schema": []}
{"input": "A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.", "output": {"entities": {"gene": [{"text": "MEN1", "start": 33, "end": 37}], "disease": [{"text": "multiple endocrine neoplasia type 1", "start": 48, "end": 83}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MEN1", "start": 33, "end": 37}, "tail": {"text": "multiple endocrine neoplasia type 1", "start": 48, "end": 83}}]}}, "schema": []}
{"input": "Here we report PKHD1 sequencing results on 78 ARPKD/CHF patients from 68 families.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 15, "end": 20}], "disease": [{"text": "ARPKD", "start": 46, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 15, "end": 20}, "tail": {"text": "ARPKD", "start": 46, "end": 51}}]}}, "schema": []}
{"input": "Several studies have suggested abnormalities in the expression of myelin-related genes including tumor necrosis factor receptor 2 (TNFR2) involved in the neurodegeneration and remyelination.", "output": {"entities": {"gene": [{"text": "TNFR2", "start": 131, "end": 136}], "disease": [{"text": "neurodegeneration", "start": 154, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "These preliminary findings demonstrate that FADS2 mRNA expression is significantly and selectively elevated in the prefrontal cortex of BD patients, and may contribute to dysregulated central PUFA biosynthesis and pro-inflammatory signaling implicated in the pathophysiology of BD.", "output": {"entities": {"gene": [{"text": "FADS2", "start": 44, "end": 49}], "disease": [{"text": "BD", "start": 136, "end": 138}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FADS2", "start": 44, "end": 49}, "tail": {"text": "BD", "start": 136, "end": 138}}]}}, "schema": []}
{"input": "Insulin-like growth factors II exon 9 and E-cadherin-Pml I but not myeloperoxidase promoter-463, urokinase-ApaL I nor xeroderma pigmentosum polymorphisms are associated with higher susceptibility to leiomyoma.", "output": {"entities": {"gene": [{"text": "E-cadherin", "start": 42, "end": 52}], "disease": [{"text": "xeroderma pigmentosum", "start": 118, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "These characteristics are associated with enhanced microglial activation and inflammation but not with altered regulation of cerebral blood flow, as assessed by MRI and laser Doppler flowmetry.", "output": {"entities": {"gene": [{"text": "MRI", "start": 161, "end": 164}], "disease": [{"text": "inflammation", "start": 77, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Variant rs11673407 in the fucosyltransferase 3 gene was strongly associated with waist/hip ratio (uncorrected p = 0. 00005) in joint analysis.", "output": {"entities": {"gene": [{"text": "fucosyltransferase 3", "start": 26, "end": 46}], "disease": [{"text": "waist/hip ratio", "start": 81, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "We examined the association of the MGP Thr83Ala polymorphism with quantity and progression of coronary artery calcification (CAC), a noninvasive measure of subclinical coronary atherosclerosis.", "output": {"entities": {"gene": [{"text": "CAC", "start": 125, "end": 128}], "disease": [{"text": "coronary artery calcification", "start": 94, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "BRCA1-associated hereditary breast carcinomas (HBCs) are diagnosed at a younger age and are known to show biological aggressiveness such as a high histological grade, frequent aneuploidy, compared to sporadic breast carcinomas.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 0, "end": 5}], "disease": [{"text": "aneuploidy", "start": 176, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that the Val/Val genetic polymorphism of GSTP1 may exert some protective effects in allergic inflammation.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 62, "end": 67}], "disease": [{"text": "inflammation", "start": 114, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "There were significant differences in the frequency of p53-LOH and D9S171-LOH between the group with sporadic disease and those with HNSCC (P = 0. 0031 and 0. 0294, respectively).", "output": {"entities": {"gene": [{"text": "p53", "start": 55, "end": 58}], "disease": [{"text": "sporadic", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.", "output": {"entities": {"gene": [{"text": "keratin 13", "start": 41, "end": 51}], "disease": [{"text": "white sponge naevus", "start": 68, "end": 87}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 13", "start": 41, "end": 51}, "tail": {"text": "white sponge naevus", "start": 68, "end": 87}}]}}, "schema": []}
{"input": "Overexpression of p53 gene product and/or 17p allelic loss were present in 47% of sporadic carcinomas and 33% of contiguous adenomas and in 71% of Crohn' s-associated carcinomas and 43% of dysplasias.", "output": {"entities": {"gene": [{"text": "p53 gene", "start": 18, "end": 26}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that changes are apparent in markers for abnormal glial-neuronal communication (connexin 43 and aquaporin 4) in brains of subjects with autism.", "output": {"entities": {"gene": [{"text": "aquaporin 4", "start": 115, "end": 126}], "disease": [{"text": "autism", "start": 155, "end": 161}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "aquaporin 4", "start": 115, "end": 126}, "tail": {"text": "autism", "start": 155, "end": 161}}]}}, "schema": []}
{"input": "Peptides with predicted binding motifs for HLA-A * 6802 were synthesized using sequences based on chlamydial antigens, major outer membrane protein (MOMP), macrophage infectivity potentiator (MIP) and heat shock protein (hsp70).", "output": {"entities": {"gene": [{"text": "hsp70", "start": 221, "end": 226}], "disease": [{"text": "shock", "start": 206, "end": 211}]}, "relations": {}}, "schema": []}
{"input": "At baseline, GFR, albuminuria, and blood pressure were similar in the two genotype groups, II versus DD: mean (SD), 86 (22) vs. 88 (24) ml.", "output": {"entities": {"gene": [{"text": "GFR", "start": 13, "end": 16}], "disease": [{"text": "albuminuria", "start": 18, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "In vivo neovascularization in the Matrigel-plugs implanted into mouse flanks was significantly enhanced by prorenin, in which significant ERK activation was detected in ECs.", "output": {"entities": {"gene": [{"text": "ERK", "start": 138, "end": 141}], "disease": [{"text": "neovascularization", "start": 8, "end": 26}]}, "relations": {}}, "schema": []}
{"input": "Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.", "output": {"entities": {"gene": [{"text": "human ether-a-go-go-related", "start": 60, "end": 87}], "disease": [{"text": "long QT syndrome 2", "start": 140, "end": 158}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "human ether-a-go-go-related", "start": 60, "end": 87}, "tail": {"text": "long QT syndrome 2", "start": 140, "end": 158}}]}}, "schema": []}
{"input": "To investigate the association of 21 polymorphisms within 13 genes, APOE, APOB, APOC3, CETP, LPL, PON1, MTHFR, FGB, F5, GPIIIa, SELE, ACE and AGT, with inter-individual blood pressure (BP) variation.", "output": {"entities": {"gene": [{"text": "APOB", "start": 74, "end": 78}], "disease": [{"text": "blood pressure", "start": 169, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to characterize the pattern of KIT, NRAS, and BRAF mutations in mucosal melanomas at specific sites and to assess activation of the KIT downstream RAF/MEK/extracellular signal-regulated kinase (ERK) and phosphoinositide 3-kinase (PI3K)/AKT pathways in mucosal melanoma specimens.", "output": {"entities": {"gene": [{"text": "ERK", "start": 220, "end": 223}], "disease": [{"text": "mucosal melanoma", "start": 90, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case.", "output": {"entities": {"gene": [{"text": "TKFC", "start": 52, "end": 56}], "disease": [{"text": "developmental delay", "start": 90, "end": 109}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TKFC", "start": 52, "end": 56}, "tail": {"text": "developmental delay", "start": 90, "end": 109}}]}}, "schema": []}
{"input": "Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.", "output": {"entities": {"gene": [{"text": "Golgi-associated protein", "start": 14, "end": 38}], "disease": [{"text": "intellectual disability", "start": 234, "end": 257}]}, "relations": {}}, "schema": []}
{"input": "These molecular cytogenetic methods allowed us (1) to precisely localize the genomic breakpoints within-EWSR1 and EWSR2 and to identify the chromosome carrying the fusion gene; (2) to determine the nature of events generating the fusion genes; (3) to demonstrate that some variant translocations represent masked complex translocations; and (4) to show that the generation of an EWS/ERG fusion gene cannot be obtained through a simple balanced translocation.", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 104, "end": 109}], "disease": [{"text": "translocation", "start": 281, "end": 294}]}, "relations": {}}, "schema": []}
{"input": "Conversely, the treatment with TCDD increases the association of mono-methylated-H3K9, DNA-methyltransferase-1 (DNMT1), and methyl-binding domain protein-2 with the BRCA-1 promoter and stimulates the accumulation of DNA strand breaks.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 112, "end": 117}], "disease": [{"text": "mono", "start": 65, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Previously, we studied single-nucleotide polymorphisms present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence.", "output": {"entities": {"gene": [{"text": "PTHR1", "start": 114, "end": 119}], "disease": [{"text": "bone mineral density", "start": 143, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Variability in kidney stone incidence between black and white South Africans: AGT Pro11Leu polymorphism is not a factor.", "output": {"entities": {"gene": [{"text": "AGT", "start": 78, "end": 81}], "disease": [{"text": "kidney stone", "start": 15, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Together, our data provide strong evidence that the chemical mediator CCL2 is released from tumor cells and evokes phenotypic changes in sensory neurons, including increases in voltage-gated Ca2 + channels that likely underlie the mechanical hyperalgesia in the fibrosarcoma cancer model.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 70, "end": 74}], "disease": [{"text": "mechanical hyperalgesia", "start": 231, "end": 254}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCL2", "start": 70, "end": 74}, "tail": {"text": "mechanical hyperalgesia", "start": 231, "end": 254}}]}}, "schema": []}
{"input": "ACEI and ARB treatment prevents ventricular remodeling by inhibiting expression of Smad 2 and Smad 3.", "output": {"entities": {"gene": [{"text": "Smad 2", "start": 83, "end": 89}], "disease": [{"text": "ventricular remodeling", "start": 32, "end": 54}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Smad 2", "start": 83, "end": 89}, "tail": {"text": "ventricular remodeling", "start": 32, "end": 54}}]}}, "schema": []}
{"input": "The Foxp3 (+) CD8 (+) T cells that differentiated in vitro in the presence of IL-6 suppressed autoimmune colitis and arthritis in vivo.", "output": {"entities": {"gene": [{"text": "CD8", "start": 14, "end": 17}], "disease": [{"text": "arthritis", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.", "output": {"entities": {"gene": [{"text": "SLC17A9", "start": 28, "end": 35}], "disease": [{"text": "disseminated superficial actinic porokeratosis", "start": 82, "end": 128}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC17A9", "start": 28, "end": 35}, "tail": {"text": "disseminated superficial actinic porokeratosis", "start": 82, "end": 128}}]}}, "schema": []}
{"input": "The results underlined the importance of considering the complete DNA sequencing of the SLC26A4 gene for differential molecular diagnosis of deafness, especially in those patients affected by congenital, progressive and fluctuating mixed hearing loss with bilateral EVA.", "output": {"entities": {"gene": [{"text": "EVA", "start": 266, "end": 269}], "disease": [{"text": "deafness", "start": 141, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PINK1 have been identified in familial and sporadic cases of early onset Parkinson' s disease (PD).", "output": {"entities": {"gene": [{"text": "PINK1", "start": 13, "end": 18}], "disease": [{"text": "sporadic", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "PF-4var/CXCL4L1 predicts outcome in stable coronary artery disease patients with preserved left ventricular function.", "output": {"entities": {"gene": [{"text": "CXCL4L1", "start": 8, "end": 15}], "disease": [{"text": "left ventricular function", "start": 91, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "The calpain inhibitor and the ROS scavenger synergistically inhibited Cd-induced necrosis.", "output": {"entities": {"gene": [{"text": "calpain inhibitor", "start": 4, "end": 21}], "disease": [{"text": "necrosis", "start": 81, "end": 89}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "calpain inhibitor", "start": 4, "end": 21}, "tail": {"text": "necrosis", "start": 81, "end": 89}}]}}, "schema": []}
{"input": "FOXC2 mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations.", "output": {"entities": {"gene": [{"text": "FOXC2", "start": 0, "end": 5}], "disease": [{"text": "variable expressivity", "start": 42, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Sixty-one leukaemia patients treated with haematopoietic stem cell transplantation (HSCT) from a genomic human leucocyte antigen (HLA)-A,-B and-DRbeta1 matched unrelated donor (MUD) were compared with 121 patients with an HLA-identical sibling donor.", "output": {"entities": {"gene": [{"text": "MUD", "start": 177, "end": 180}], "disease": [{"text": "leukaemia", "start": 10, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "The translocation targets the NUP98 gene on 11p15, a member of the FG peptide repeat nucleoporin family.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 30, "end": 40}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Recent genetic studies have shown that ANG is presented as a susceptibility gene for amyotrophic lateral sclerosis (ALS) and ALS-frontotemporal dementia (ALS-FTD).", "output": {"entities": {"gene": [{"text": "ANG", "start": 39, "end": 42}], "disease": [{"text": "frontotemporal dementia", "start": 129, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "There is no detectable difference in the pattern of hypersensitivity (compared with the actively transcribed c-myc gene of lymphoblastoid cells) in Burkitt lymphoma cells where the translocation point occurs at a considerable distance upstream or downstream of c-myc.", "output": {"entities": {"gene": [{"text": "myc gene", "start": 111, "end": 119}], "disease": [{"text": "hypersensitivity", "start": 52, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "By using siRNA (small interfering RNA) to downregulate EphB4 in MCF7 and MDA-MB-435 cancer cells, we found that EphB4 inhibits integrin-mediated cell substrate adhesion, spreading and migration, and reduces beta1-integrin protein levels.", "output": {"entities": {"gene": [{"text": "EphB4", "start": 55, "end": 60}], "disease": [{"text": "adhesion", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Mel-18 negatively regulated the HIF-1α expression and its target gene VEGF transcription during both normoxia and hypoxia.", "output": {"entities": {"gene": [{"text": "Mel-18", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 114, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The low mean SHBG concentration found among G972R carriers suggests that this variant may be a minor locus associated with development of hyperinsulinemic insulin resistance and ovarian androgen excess in girls with a history of PP.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 13, "end": 17}], "disease": [{"text": "insulin resistance", "start": 155, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "To study fibrosis-associated liver carcinogenesis, we used a mouse model designed to emulate the development of HCC in cirrhotic liver.", "output": {"entities": {"gene": [{"text": "HCC", "start": 112, "end": 115}], "disease": [{"text": "fibrosis", "start": 9, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.", "output": {"entities": {"gene": [{"text": "NRAS", "start": 117, "end": 121}], "disease": [{"text": "congenital melanocytic nevi", "start": 9, "end": 36}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NRAS", "start": 117, "end": 121}, "tail": {"text": "congenital melanocytic nevi", "start": 9, "end": 36}}]}}, "schema": []}
{"input": "Beta-blockers are widely used and effective for treating hypertension, acute myocardial infarction (MI) and heart failure, but they present side-effects mainly due to antagonism of beta2-adrenergic receptor (AR).", "output": {"entities": {"gene": [{"text": "beta2", "start": 181, "end": 186}], "disease": [{"text": "heart failure", "start": 108, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Effect of variation in the apo A-IV gene on body mass index and fasting and postprandial lipids in the European Atherosclerosis Research Study II. EARS Group.", "output": {"entities": {"gene": [{"text": "IV gene", "start": 33, "end": 40}], "disease": [{"text": "body mass index", "start": 44, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.", "output": {"entities": {"gene": [{"text": "MLLT3", "start": 40, "end": 45}], "disease": [{"text": "bipolar disorder", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MLLT3", "start": 40, "end": 45}, "tail": {"text": "bipolar disorder", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "In summary, these findings are consistent with previous literature suggesting that individual susceptibility to bladder cancer may be modulated by NAT2 polymorphisms, particularly in interaction with relevant environmental exposures such as smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 147, "end": 151}], "disease": [{"text": "smoking", "start": 241, "end": 248}]}, "relations": {}}, "schema": []}
{"input": "We studied loss of heterozygosity (LOH) on human chromosome 13q in prostate cancer specimens to determine the location of a putative tumor suppressor gene (TSG) and to correlate these losses with the clinicopathological stage of the disease.", "output": {"entities": {"gene": [{"text": "TSG", "start": 156, "end": 159}], "disease": [{"text": "prostate cancer", "start": 67, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "Finally, the therapeutic efficacy of a single intratumoral injection of AdCMVCD followed by systemic 5-FC was assessed in three intracranial C. B17 severe combined immunodeficient mouse models of human glioma.", "output": {"entities": {"gene": [{"text": "B17", "start": 144, "end": 147}], "disease": [{"text": "glioma", "start": 202, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "The reduced myocardial iodine-123 metaiodobenzylguanidine uptake observed in patients with single heterozygous PINK1 mutations is similar to that seen in patients with sporadic PD.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 111, "end": 116}], "disease": [{"text": "sporadic", "start": 168, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "5'-rapid amplification of complementary DNA ends polymerase chain reaction identified an in-frame fusion of dynactin 1 exon 16 on chromosome 2 to anaplastic lymphoma kinase exon 20.", "output": {"entities": {"gene": [{"text": "dynactin 1", "start": 108, "end": 118}], "disease": [{"text": "lymphoma", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We systematically reviewed and meta-analyzed relations between breast cancer imaging features and human epidermal growth factor receptor type 2 (HER2) overexpression as a marker of breast cancer aggressiveness.", "output": {"entities": {"gene": [{"text": "HER2", "start": 145, "end": 149}], "disease": [{"text": "aggressiveness", "start": 195, "end": 209}]}, "relations": {}}, "schema": []}
{"input": "In a longitudinal population cohort we have established a role for polymorphism of IL13 in determining susceptibility to both atopy and asthma.", "output": {"entities": {"gene": [{"text": "IL13", "start": 83, "end": 87}], "disease": [{"text": "atopy", "start": 126, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "In contrast, OVA challenge in CC10-IL-11 animals elicited impressively lower levels of tissue and bronchoalveolar lavage inflammation, eosinophilia, and Th2 cell accumulation, and significantly lower levels of VCAM-1 and IL-4, IL-5, and IL-13 mRNA and protein.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 221, "end": 225}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "Six genetic polymorphisms in ARNTL, PER2 and CRY2 were genotyped in 566 schizophrenia spectrum disorder patients and 926 controls.", "output": {"entities": {"gene": [{"text": "ARNTL", "start": 29, "end": 34}], "disease": [{"text": "schizophrenia", "start": 72, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Expression of the tumor suppressor ARHI inhibits the growth of pancreatic cancer cells by inducing G1 cell cycle arrest.", "output": {"entities": {"gene": [{"text": "ARHI", "start": 35, "end": 39}], "disease": [{"text": "pancreatic cancer", "start": 63, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "We investigated in this study the potential relationship between the host (human) genetic polymorphisms (glucose-6-phosphate dehydrogenase [G6PD], mannose binding lectin [MBL], tumor necrosis factor alpha [TNFalpha] (-308) and (-238), and nitric oxide synthase 2 [NOS2] (-954)) and the prevalence and profile of asymptomatic P. falciparum infection in 158 Gabonese schoolchildren.", "output": {"entities": {"gene": [{"text": "glucose-6-phosphate dehydrogenase", "start": 105, "end": 138}], "disease": [{"text": "asymptomatic", "start": 312, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "This immunotoxin also caused complete regression of tumors in nude mice that received xenografts of mesothelin-positive human carcinomas.", "output": {"entities": {"gene": [{"text": "mesothelin", "start": 100, "end": 110}], "disease": [{"text": "regression", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "Recently, somatic post-zygotic mutations in EPAS1 (HIF2A) have been found in patients with multiple PGLs and congenital erythrocytosis.", "output": {"entities": {"gene": [{"text": "PGLs", "start": 100, "end": 104}], "disease": [{"text": "congenital erythrocytosis", "start": 109, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "mRNA editing was assessed in prefrontal cortex of 24 MDD (Suic), 21 MDD (NoSuic), and 56 NC using next generation sequencing. mRNA expression of 5-HT (2C) R and editing enzymes (ADAR1-2) was assessed by real-time PCR.", "output": {"entities": {"gene": [{"text": "5-HT (2C", "start": 145, "end": 153}], "disease": [{"text": "MDD (Suic", "start": 53, "end": 62}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT (2C", "start": 145, "end": 153}, "tail": {"text": "MDD (Suic", "start": 53, "end": 62}}]}}, "schema": []}
{"input": "Long non-coding RNA-ATB promotes EMT during silica-induced pulmonary fibrosis by competitively binding miR-200c.", "output": {"entities": {"gene": [{"text": "miR-200c", "start": 103, "end": 111}], "disease": [{"text": "pulmonary fibrosis", "start": 59, "end": 77}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "miR-200c", "start": 103, "end": 111}, "tail": {"text": "pulmonary fibrosis", "start": 59, "end": 77}}]}}, "schema": []}
{"input": "Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males.", "output": {"entities": {"gene": [{"text": "IGF2 gene", "start": 69, "end": 78}], "disease": [{"text": "body mass index", "start": 90, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "To investigate the association of the common protein Z (PZ) intron F G79A gene polymorphism with recurrent early pregnancy loss (RPL) and its gene-gene interaction with known thrombophilic risk factors for RPL.", "output": {"entities": {"gene": [{"text": "protein Z", "start": 45, "end": 54}], "disease": [{"text": "recurrent early pregnancy loss", "start": 97, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The humoral pattern recognition molecule PTX3 is a key component of innate immunity against urinary tract infection.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 41, "end": 45}], "disease": [{"text": "urinary tract infection", "start": 92, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, GEP levels were significantly elevated in patients with either osteoarthritis or rheumatoid arthritis.", "output": {"entities": {"gene": [{"text": "GEP", "start": 13, "end": 16}], "disease": [{"text": "osteoarthritis", "start": 76, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Clinical characteristics of CGN (nephritis, debute, its clinical and morphological variants, analysis of the clinical course as regards arterial hypertension severity, rate of persistence of proteinuria (PU) of the nephrotic level for 6 months and longer, frequency of AH combination with persistent PU was made retrospectively in the groups of patients by genotypes of the genes ACE, CYP11B2 and NOS3.", "output": {"entities": {"gene": [{"text": "CYP11B2", "start": 385, "end": 392}], "disease": [{"text": "nephritis", "start": 33, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Autonomic activity, including blood pressure and circulating levels of catecholamines, increased after administration of the stressor, and correlated with increases of Mac-1.", "output": {"entities": {"gene": [{"text": "Mac-1", "start": 168, "end": 173}], "disease": [{"text": "blood pressure", "start": 30, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "The inactivating mutations in the DUOXA2 (p. Y246X) and DUOX2 (p. R885Q) genes were identified in a set of dizygotic twins with CH.", "output": {"entities": {"gene": [{"text": "DUOXA2", "start": 34, "end": 40}], "disease": [{"text": "dizygotic twins", "start": 107, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Importantly, systemic in vivo administration of RAP reduced the growth and metastasis of pancreatic tumors and also inhibited glioma tumor growth.", "output": {"entities": {"gene": [{"text": "RAP", "start": 48, "end": 51}], "disease": [{"text": "glioma", "start": 126, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "To analyze the effects of the mutations in the beta3-adrenoceptor (beta3-AR) gene and/or uncoupling protein3 (UCP3) gene promoter on body fat distribution and glycemic control after mild weight reduction in overweight-obese subjects with coronary artery disease (CAD) or metabolic syndrome.", "output": {"entities": {"gene": [{"text": "beta3", "start": 47, "end": 52}], "disease": [{"text": "weight reduction", "start": 187, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The translocation and/or overexpression of c-MAF have been observed in human MM.", "output": {"entities": {"gene": [{"text": "c-MAF", "start": 43, "end": 48}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Weekly cisplatin, epirubicin, and paclitaxel with granulocyte colony-stimulating factor support vs triweekly epirubicin and paclitaxel in locally advanced breast cancer: final analysis of a sicog phase III study.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 50, "end": 87}], "disease": [{"text": "breast cancer", "start": 155, "end": 168}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 50, "end": 87}, "tail": {"text": "breast cancer", "start": 155, "end": 168}}]}}, "schema": []}
{"input": "To investigate the relationship between mtDNA variation and endometrial cancer, we collected blood samples from subjects with Han native background in Yunnan province in China, 49 of them with pathologically conformed endometrial cancer and 31 as controls with no cancer disease and sequenced two hypervariable segments of control region, part of 16sRNA gene, tRNA (leu) (tRNA is transfer RNA) gene and ND1 gene of mtDNA and identified some diagnostic polymorphisms by restriction fragment length polymorphism of coding region of mtDNA.", "output": {"entities": {"gene": [{"text": "ND1", "start": 403, "end": 406}], "disease": [{"text": "endometrial cancer", "start": 60, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Here, we molecularly characterized the CD40L-Mac-1 interaction and tested whether its selective inhibition by a small peptide modulates inflammation and atherogenesis in vivo.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 39, "end": 44}], "disease": [{"text": "atherogenesis", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "To study possible mutational changes associated with smoking as a risk factor for lung cancer, we analyzed HPRT mutations in T-cells of newly diagnosed, nonsmoking and smoking lung cancer patients before treatment.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 107, "end": 111}], "disease": [{"text": "smoking", "start": 53, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "In the striatum of the knock-in mice, DARPP-32 phosphorylation at Thr 34, which is important for the regulation of depression-related behaviour, is increased.", "output": {"entities": {"gene": [{"text": "DARPP-32", "start": 38, "end": 46}], "disease": [{"text": "depression", "start": 115, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DARPP-32", "start": 38, "end": 46}, "tail": {"text": "depression", "start": 115, "end": 125}}]}}, "schema": []}
{"input": "PDE4 has been reported to be involved in various central nervous system (CNS) functions including depression, memory, and schizophrenia, although the specific subtype mediating these effects remains unclear.", "output": {"entities": {"gene": [{"text": "PDE4", "start": 0, "end": 4}], "disease": [{"text": "schizophrenia", "start": 122, "end": 135}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDE4", "start": 0, "end": 4}, "tail": {"text": "schizophrenia", "start": 122, "end": 135}}]}}, "schema": []}
{"input": "Three pathogenic sequence alterations in VMD2 were identified in five families with nanophthalmos associated with ADVIRC.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 41, "end": 45}], "disease": [{"text": "ADVIRC", "start": 114, "end": 120}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 41, "end": 45}, "tail": {"text": "ADVIRC", "start": 114, "end": 120}}]}}, "schema": []}
{"input": "The reductions in GAP-43 and serotonin 1A receptor expressions are comparable with findings in mood disorder, supporting the possibility that the latter reflect an early developmental contribution to disease vulnerability.", "output": {"entities": {"gene": [{"text": "GAP-43", "start": 18, "end": 24}], "disease": [{"text": "mood disorder", "start": 95, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAP-43", "start": 18, "end": 24}, "tail": {"text": "mood disorder", "start": 95, "end": 108}}]}}, "schema": []}
{"input": "This case-control study investigated the association of IL-6-572 G/C and IL-1A-889 C/T gene polymorphisms with acne in a Pakistani population.", "output": {"entities": {"gene": [{"text": "T gene", "start": 85, "end": 91}], "disease": [{"text": "acne", "start": 111, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Perturbation of eight out of the nine genes, with Gas7, Me1 and Gpx3 being newly confirmed, resulted in significant changes in obesity-related traits.", "output": {"entities": {"gene": [{"text": "Gpx3", "start": 64, "end": 68}], "disease": [{"text": "obesity", "start": 127, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Gpx3", "start": 64, "end": 68}, "tail": {"text": "obesity", "start": 127, "end": 134}}]}}, "schema": []}
{"input": "Reduced nBRCA1 expression was associated with higher histological grade and positive Ki67 both in sporadic (p = 0. 0010, p = 0. 047) and familial groups (p < 0. 001, p = 0. 001).", "output": {"entities": {"gene": [{"text": "Ki67", "start": 85, "end": 89}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "p27 (BBP) alterations are common events in the transition to malignancy and are probably involved in squamous carcinoma progression.", "output": {"entities": {"gene": [{"text": "BBP", "start": 5, "end": 8}], "disease": [{"text": "malignancy", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We conclude that IGF-I effects sustained improvement of renal function (clearances comparable to those generally achieved by dialysis) in patients with ESRD and is well tolerated.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 17, "end": 22}], "disease": [{"text": "ESRD", "start": 152, "end": 156}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-I", "start": 17, "end": 22}, "tail": {"text": "ESRD", "start": 152, "end": 156}}]}}, "schema": []}
{"input": "Although CMS exposure alone had no effect in the hippocampus, it inhibited the sleep deprivation-induced eIF4E phosphorylation, while inducing phosphorylation of a major regulatory RNA-binding protein, cytoplasmic polyadenylation element-binding protein (CPEB) in the combined treatment.", "output": {"entities": {"gene": [{"text": "CPEB", "start": 255, "end": 259}], "disease": [{"text": "sleep deprivation", "start": 79, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The study also suggests that TP53 may function as a potential molecular marker and prognostic tool, at least in a subset of sporadic Kangri tumors.", "output": {"entities": {"gene": [{"text": "TP53", "start": 29, "end": 33}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "Knockdown of ICB-1 gene enhanced estrogen responsiveness of ovarian and breast cancer cells.", "output": {"entities": {"gene": [{"text": "ICB-1", "start": 13, "end": 18}], "disease": [{"text": "breast cancer", "start": 72, "end": 85}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "ICB-1", "start": 13, "end": 18}, "tail": {"text": "breast cancer", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "In order to further explore this association by considering GAS6 haplotypes and the main stroke subtypes, 457 patients with ischemic stroke, 199 with hemorrhagic stroke and 150 asymptomatic controls were genotyped for eight GAS6 polymorphisms and other genetic markers in the same genome region.", "output": {"entities": {"gene": [{"text": "GAS6", "start": 60, "end": 64}], "disease": [{"text": "ischemic stroke", "start": 124, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "For a ZFAT Ex9b-SNP10 polymorphism, the TT genotype and T allele were significantly more frequent in patients with severe Hashimoto' s disease (HD) than in those with mild HD (P = 0. 0029 and P = 0. 0049, respectively).", "output": {"entities": {"gene": [{"text": "ZFAT", "start": 6, "end": 10}], "disease": [{"text": "mild", "start": 167, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Angiopoietins are ligands for Tie-2 receptors and play important roles in angiogenesis and inflammation.", "output": {"entities": {"gene": [{"text": "Tie-2", "start": 30, "end": 35}], "disease": [{"text": "inflammation", "start": 91, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical evaluation of skin from prurigo nodularis patients confirmed an upregulation of the ET-1/ETAR/ECE-1/ERK1/2 axis in patients with chronic itch.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 120, "end": 124}], "disease": [{"text": "itch", "start": 157, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "To extend knowledge on the mechanisms and pathways involved in maintenance of radiation-induced fibrosis (RIF) by performing gene expression profiling of whole blood from breast cancer (BC) survivors with and without fibrosis 3-7 years after end of radiotherapy treatment.", "output": {"entities": {"gene": [{"text": "RIF", "start": 106, "end": 109}], "disease": [{"text": "fibrosis", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We report a unique UFSP2 mutation that segregates with the BHD phenotype.", "output": {"entities": {"gene": [{"text": "UFSP2", "start": 19, "end": 24}], "disease": [{"text": "BHD", "start": 59, "end": 62}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "UFSP2", "start": 19, "end": 24}, "tail": {"text": "BHD", "start": 59, "end": 62}}]}}, "schema": []}
{"input": "The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.", "output": {"entities": {"gene": [{"text": "PDIA3", "start": 119, "end": 124}], "disease": [{"text": "SCA17", "start": 179, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDIA3", "start": 119, "end": 124}, "tail": {"text": "SCA17", "start": 179, "end": 184}}]}}, "schema": []}
{"input": "Nonetheless, chromatid-type chromosomal aberrations were only 1. 5 to 2 times more abundant in XP-V than in NHF exposed to the same UVC dose.", "output": {"entities": {"gene": [{"text": "XP-V", "start": 95, "end": 99}], "disease": [{"text": "chromosomal aberrations", "start": 28, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "To test the role of HOXB8 in gastric cancer metastasis, the cell transwell assay was performed.", "output": {"entities": {"gene": [{"text": "HOXB8", "start": 20, "end": 25}], "disease": [{"text": "gastric cancer", "start": 29, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In SG600-p53, the E1a gene with a deletion of 24 nucleotides within CR2 region is controlled under the human telomerase reverse transcriptase (hTERT) promoter, the E1b gene expression is directed by the hypoxia response element (HRE), whereas the p53 gene is controlled by the cytomegalovirus promoter.", "output": {"entities": {"gene": [{"text": "CR2", "start": 68, "end": 71}], "disease": [{"text": "hypoxia", "start": 203, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3. 58 at theta = 0. 0).", "output": {"entities": {"gene": [{"text": "COL4A4", "start": 73, "end": 79}], "disease": [{"text": "benign familial hematuria", "start": 27, "end": 52}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL4A4", "start": 73, "end": 79}, "tail": {"text": "benign familial hematuria", "start": 27, "end": 52}}]}}, "schema": []}
{"input": "A set of 662 FFPE DNA samples not only confirmed that APOLD1 and SRPX2 are hypomethylated in CRC but also revealed hypomethylation to be significantly (p < 0. 01) associated with tumors being localized in the left side, CpG island methylator phenotype negative, MSS, BRAF wt, undifferentiated and of adenocarcinoma histosubtype.", "output": {"entities": {"gene": [{"text": "APOLD1", "start": 54, "end": 60}], "disease": [{"text": "tumors", "start": 179, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We have quantified the discreet dissociation constants for wild-type superoxide dismutase 1 and six naturally occurring sequence variants, in their unmodified and glutathionylated forms, at the ratios expressed.", "output": {"entities": {"gene": [{"text": "superoxide dismutase 1", "start": 69, "end": 91}], "disease": [{"text": "dissociation", "start": 32, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "In addition, a significant increase in blood flow was assessed by a Doppler flow wire and the ratio in blood pressure of the ischemic limb to the normal limb was observed in rabbits transfected with HGF plasmid as compared with rabbits transfected with control vector (P < 0. 01).", "output": {"entities": {"gene": [{"text": "HGF", "start": 199, "end": 202}], "disease": [{"text": "blood pressure", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "The lower limb muscle MRI shows a distinctive pattern suggestive of denervation characterized by sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, and diffuse involvement with relative sparing of the anterior-medial muscles at the calf level.", "output": {"entities": {"gene": [{"text": "MRI", "start": 22, "end": 25}], "disease": [{"text": "hypertrophy", "start": 118, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "We show that depletion of Rad52 in mouse lung tumor cells alters cell cycle distribution and increases DNA damage accumulation associated with increased tumor cell death.", "output": {"entities": {"gene": [{"text": "Rad52", "start": 26, "end": 31}], "disease": [{"text": "lung tumor", "start": 41, "end": 51}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Rad52", "start": 26, "end": 31}, "tail": {"text": "lung tumor", "start": 41, "end": 51}}]}}, "schema": []}
{"input": "This review provides a summary of the evidence implicating HLA-G in liver diseases.", "output": {"entities": {"gene": [{"text": "HLA-G", "start": 59, "end": 64}], "disease": [{"text": "liver diseases", "start": 68, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "The findings indicate that alterations of the adenomatous polyposis coli and the p53 genes are relatively frequent in sporadic ampullary carcinomas.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 81, "end": 90}], "disease": [{"text": "sporadic", "start": 118, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).", "output": {"entities": {"gene": [{"text": "ORMDL1", "start": 131, "end": 137}], "disease": [{"text": "muscle hypertrophy", "start": 402, "end": 420}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.", "output": {"entities": {"gene": [{"text": "VMD2", "start": 25, "end": 29}], "disease": [{"text": "best macular dystrophy", "start": 57, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VMD2", "start": 25, "end": 29}, "tail": {"text": "best macular dystrophy", "start": 57, "end": 79}}]}}, "schema": []}
{"input": "The National Institute for Health and Care Excellence (NICE) invited GlaxoSmithKline, the manufacturer of dabrafenib, to submit evidence for the clinical and cost effectiveness of dabrafenib for the treatment of unresectable, advanced or metastatic BRAF V600 mutation-positive melanoma in accordance with the Institute' s Single Technology Appraisal (STA) process.", "output": {"entities": {"gene": [{"text": "STA", "start": 351, "end": 354}], "disease": [{"text": "melanoma", "start": 277, "end": 285}]}, "relations": {}}, "schema": []}
{"input": "Subsequently, 48h after MCAO, arterial blood pressure, infarct volume, water content, BBB permeability, BBB ultrastructure, levels of aquaporin-4 (AQP4) and its mRNA were evaluated.", "output": {"entities": {"gene": [{"text": "AQP4", "start": 147, "end": 151}], "disease": [{"text": "infarct", "start": 55, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "NAT2 slow vs. rapid/intermediate acetylation genotype was not related to breast cancer risk (0. 99 (0. 87-1. 13)), and did not significantly modify the smoking relationships.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 0, "end": 4}], "disease": [{"text": "smoking", "start": 152, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "Recurrent RECQL4 imbalance and increased gene expression levels are associated with structural chromosomal instability in sporadic osteosarcoma.", "output": {"entities": {"gene": [{"text": "RECQL4", "start": 10, "end": 16}], "disease": [{"text": "sporadic", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "Homozygous Bmal1 null mice were 30% lighter at weaning, and while they grew at a similar rate to the wild-type mice, they never achieved a comparable body weight.", "output": {"entities": {"gene": [{"text": "Bmal1", "start": 11, "end": 16}], "disease": [{"text": "body weight", "start": 150, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "This first exploratory systematic study of the HDAC genes provides consistent support for the involvement of the HDAC3 gene in the etiology of schizophrenia.", "output": {"entities": {"gene": [{"text": "HDAC3", "start": 113, "end": 118}], "disease": [{"text": "schizophrenia", "start": 143, "end": 156}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC3", "start": 113, "end": 118}, "tail": {"text": "schizophrenia", "start": 143, "end": 156}}]}}, "schema": []}
{"input": "Diabetes-induced LV diastolic dysfunction (prolonged deceleration time, elevated end-diastolic pressure, impaired E/A ratio), cardiomyocyte hypertrophy and fibrosis, expression of atrial natriuretic peptide, connective tissue growth factor, and β-myosin heavy chain were all attenuated by CoQ (10).", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 254, "end": 265}], "disease": [{"text": "diastolic dysfunction", "start": 20, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Phenotypically overlapping conditions such as mesomelic dysplasia, Savarirayan-type (MIM 605274), have been described, but their pathogenesis also remains unknown.", "output": {"entities": {"gene": [{"text": "MIM", "start": 85, "end": 88}], "disease": [{"text": "mesomelic dysplasia", "start": 46, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Genetic alterations of p16INK4a and p53 genes in sporadic dysplastic nevus.", "output": {"entities": {"gene": [{"text": "p53 genes", "start": 36, "end": 45}], "disease": [{"text": "sporadic", "start": 49, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "Human LRIT3 antibody staining revealed in the outer plexiform layer of the human retina a punctate-labeling pattern resembling the dendritic tips of bipolar cells; similar patterns have been observed for other proteins implicated in cCSNB.", "output": {"entities": {"gene": [{"text": "LRIT3", "start": 6, "end": 11}], "disease": [{"text": "CSNB", "start": 234, "end": 238}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LRIT3", "start": 6, "end": 11}, "tail": {"text": "CSNB", "start": 234, "end": 238}}]}}, "schema": []}
{"input": "To test this, we used a previously described transgenic mouse model of wound-induced skin tumorigenesis, in which expression of constitutively active MEK1 in differentiating epidermal cells results in chronic inflammation (InvEE mice).", "output": {"entities": {"gene": [{"text": "MEK1", "start": 150, "end": 154}], "disease": [{"text": "tumorigenesis", "start": 90, "end": 103}]}, "relations": {}}, "schema": []}
{"input": "Similar to the parosteal osteosarcoma, the periosteal osteosarcoma expressed IGF2 and IMP3 mainly with nuclear staining simultaneously, forty out of fifty-five cases of periosteal osteosarcoma did that.", "output": {"entities": {"gene": [{"text": "IMP3", "start": 86, "end": 90}], "disease": [{"text": "parosteal osteosarcoma", "start": 15, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Genomic instability at dinucleotide microsatellite loci in chromosomes 2, 13, and 17 and at 2 mononucleotide repeat loci was examined in liver tissues from 41 patients, including 30 without HCC (18 patients with chronic hepatitis and 12 with cirrhosis) and 11 with HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 190, "end": 193}], "disease": [{"text": "chronic hepatitis", "start": 212, "end": 229}]}, "relations": {}}, "schema": []}
{"input": "Of the 21 genes, 15 are not presently identified, and only 3 genes (cathepsin K, GRK6, and a gene with accession number AI177589) are located in chromosome regions known to be associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 68, "end": 79}], "disease": [{"text": "schizophrenia", "start": 192, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "cathepsin K", "start": 68, "end": 79}, "tail": {"text": "schizophrenia", "start": 192, "end": 205}}]}}, "schema": []}
{"input": "The HCC development was associated with expression of early HCC markers (glutamine synthetase, glypican 3, heat shock protein 70, and the serum marker alpha fetoprotein), although without fibrosis.", "output": {"entities": {"gene": [{"text": "glutamine synthetase", "start": 73, "end": 93}], "disease": [{"text": "fibrosis", "start": 188, "end": 196}]}, "relations": {}}, "schema": []}
{"input": "Of the 21 genes, 15 are not presently identified, and only 3 genes (cathepsin K, GRK6, and a gene with accession number AI177589) are located in chromosome regions known to be associated with schizophrenia.", "output": {"entities": {"gene": [{"text": "GRK6", "start": 81, "end": 85}], "disease": [{"text": "schizophrenia", "start": 192, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GRK6", "start": 81, "end": 85}, "tail": {"text": "schizophrenia", "start": 192, "end": 205}}]}}, "schema": []}
{"input": "Lidocaine attenuates monocyte chemoattractant protein-1 production and chemotaxis in human monocytes: possible mechanisms for its effect on inflammation.", "output": {"entities": {"gene": [{"text": "monocyte chemoattractant protein-1", "start": 21, "end": 55}], "disease": [{"text": "inflammation", "start": 140, "end": 152}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "monocyte chemoattractant protein-1", "start": 21, "end": 55}, "tail": {"text": "inflammation", "start": 140, "end": 152}}]}}, "schema": []}
{"input": "Our results, indicating that missense mutations of BRCA1 and BRCA2 tend to predominate over frameshifts or nonsense mutations in Japanese breast cancer families, will contribute significantly to an understanding of mammary tumorigenesis in Japan, and will be of vital importance for future genetic testing.", "output": {"entities": {"gene": [{"text": "BRCA1", "start": 51, "end": 56}], "disease": [{"text": "breast cancer", "start": 138, "end": 151}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA1", "start": 51, "end": 56}, "tail": {"text": "breast cancer", "start": 138, "end": 151}}]}}, "schema": []}
{"input": "We measured resting plasma levels of clotting factor VII activity (FVII: C), FVIII: C, FXII: C, fibrinogen, and D-dimer in 14 otherwise healthy patients with PTSD and in 14 age-and gender-matched, trauma-exposed non-PTSD controls.", "output": {"entities": {"gene": [{"text": "FVIII", "start": 77, "end": 82}], "disease": [{"text": "fibrinogen", "start": 96, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.", "output": {"entities": {"gene": [{"text": "GNAI2", "start": 92, "end": 97}], "disease": [{"text": "breast cancer", "start": 256, "end": 269}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GNAI2", "start": 92, "end": 97}, "tail": {"text": "breast cancer", "start": 256, "end": 269}}]}}, "schema": []}
{"input": "We screened 6 single-nucleotide polymorphisms (SNPs) in the 5'-upstream region of PDGFRB and conducted a case-control study of 381 SCZ patients and 752 controls.", "output": {"entities": {"gene": [{"text": "PDGFRB", "start": 82, "end": 88}], "disease": [{"text": "SCZ", "start": 131, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PDGFRB", "start": 82, "end": 88}, "tail": {"text": "SCZ", "start": 131, "end": 134}}]}}, "schema": []}
{"input": "Among these yeast Ubr1 mutants, one of them (H160R) was inactive in yeast-based activity assays, the other one (Q1224E) had a detectable but weak activity, and the third one (V146L) exhibited a decreased but significant activity, in agreement with manifestations of JBS in the corresponding JBS patients.", "output": {"entities": {"gene": [{"text": "Ubr1", "start": 18, "end": 22}], "disease": [{"text": "JBS", "start": 266, "end": 269}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "Ubr1", "start": 18, "end": 22}, "tail": {"text": "JBS", "start": 266, "end": 269}}]}}, "schema": []}
{"input": "In case 2, we detected another novel HJV mutation (g. 2297delC) in heterozygosity, which was inherited from the mother, affected by mild iron deficiency.", "output": {"entities": {"gene": [{"text": "HJV", "start": 37, "end": 40}], "disease": [{"text": "mild", "start": 132, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "The same missense mutation, p. Ser422Leu (c. 1265C & gt; T) in KCNJ8, was identified in 3 BrS and 1 ERS probands but was absent in 430 alleles from ethnically matched healthy controls.", "output": {"entities": {"gene": [{"text": "KCNJ8", "start": 63, "end": 68}], "disease": [{"text": "BrS", "start": 90, "end": 93}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KCNJ8", "start": 63, "end": 68}, "tail": {"text": "BrS", "start": 90, "end": 93}}]}}, "schema": []}
{"input": "Significant interaction in the OPRA cohort was observed for LRP4 with BMP2 and GPR177 for FN BMD as well as for rate of bone loss at TB and FN (p = 0. 007-0. 0001).", "output": {"entities": {"gene": [{"text": "LRP4", "start": 60, "end": 64}], "disease": [{"text": "bone loss", "start": 120, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The observations provide the first comparative molecular characterization of desmoid tumours and nodular fasciitis and suggest that selected tyrosine kinases, transcription factors, and members of the Wnt, TGF-beta, IFN, and TNF signalling pathways may be implicated in influencing and distinguishing their fate.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 206, "end": 214}], "disease": [{"text": "nodular fasciitis", "start": 97, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma.", "output": {"entities": {"gene": [{"text": "HAND2", "start": 178, "end": 183}], "disease": [{"text": "neuroblastoma", "start": 326, "end": 339}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HAND2", "start": 178, "end": 183}, "tail": {"text": "neuroblastoma", "start": 326, "end": 339}}]}}, "schema": []}
{"input": "We have also investigated the effect of histamine H4 receptor antagonists on histamine H1 receptor antagonist-resistant pruritus using a mouse model.", "output": {"entities": {"gene": [{"text": "histamine H1 receptor", "start": 77, "end": 98}], "disease": [{"text": "pruritus", "start": 120, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "histamine H1 receptor", "start": 77, "end": 98}, "tail": {"text": "pruritus", "start": 120, "end": 128}}]}}, "schema": []}
{"input": "All of them had a determination of UAE as the urinary albumin creatinine ratio (ACR), a convenient index of UAE, together with blood pressure and other variables, such as age, sex, and body mass index.", "output": {"entities": {"gene": [{"text": "ACR", "start": 80, "end": 83}], "disease": [{"text": "blood pressure", "start": 127, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "To determine the association between apolipoprotein A1 (APOA1)-75 guanine [G] to adenine [A] and + 83/84 M2 (+/-), MspI) and apolipoprotein C3 (APOC3) (SstI) polymorphisms with gallstone disease.", "output": {"entities": {"gene": [{"text": "APOA1", "start": 56, "end": 61}], "disease": [{"text": "gallstone disease", "start": 177, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Proteomic analysis identified INPP5E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl-dependent cargo of PDE6D.", "output": {"entities": {"gene": [{"text": "INPP5E", "start": 30, "end": 36}], "disease": [{"text": "micropenis", "start": 136, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "One of the genes most susceptible to breakage/translocation in soft tissue tumors is represented by Ewing sarcoma breakpoint region 1 (EWSR1).", "output": {"entities": {"gene": [{"text": "EWSR1", "start": 135, "end": 140}], "disease": [{"text": "translocation", "start": 46, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis.", "output": {"entities": {"gene": [{"text": "ENG", "start": 0, "end": 3}], "disease": [{"text": "juvenile polyposis", "start": 62, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ENG", "start": 0, "end": 3}, "tail": {"text": "juvenile polyposis", "start": 62, "end": 80}}]}}, "schema": []}
{"input": "Understanding early-life immune mechanisms responsible for atopic diseases, specifically how cytokines of T-regulatory cells act to balance the Th1 and Th2 immune response, continues to be a fruitful area of research.", "output": {"entities": {"gene": [{"text": "Th1", "start": 144, "end": 147}], "disease": [{"text": "atopic", "start": 59, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "TfR-induced oxidant accumulation modified cellular signaling by inactivating a protein tyrosine phosphatase (low-molecular-weight protein tyrosine phosphatase), activating mitogen-activated protein kinase and Akt and by inactivating p21/cdkn1a and pRB.", "output": {"entities": {"gene": [{"text": "cdkn1a", "start": 237, "end": 243}], "disease": [{"text": "weight", "start": 123, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The objective of this study was to determine the molecular basis of infancy-onset diabetes and a mild form of intermediate DEND, resulting from a novel KCNJ11 in frame mutation plus deletion.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 152, "end": 158}], "disease": [{"text": "mild", "start": 97, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.", "output": {"entities": {"gene": [{"text": "DLC-1", "start": 131, "end": 136}], "disease": [{"text": "OCa", "start": 167, "end": 170}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DLC-1", "start": 131, "end": 136}, "tail": {"text": "OCa", "start": 167, "end": 170}}]}}, "schema": []}
{"input": "The TFs investigated are known to be typically responsive to heat shock (HSF), hypoxia (HIF-1), pro-and antioxidant conditions (AP-1), or to various environmental changes (HNF-1 and ATF/CREB family).", "output": {"entities": {"gene": [{"text": "AP-1", "start": 128, "end": 132}], "disease": [{"text": "hypoxia", "start": 79, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome.", "output": {"entities": {"gene": [{"text": "GPC4", "start": 40, "end": 44}], "disease": [{"text": "Keipert syndrome", "start": 155, "end": 171}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GPC4", "start": 40, "end": 44}, "tail": {"text": "Keipert syndrome", "start": 155, "end": 171}}]}}, "schema": []}
{"input": "The pain mediator prostaglandin E2 (PGE2) sensitizes nociceptive pathways through EP2 and EP4 receptors, which are coupled to Gs proteins and increase cAMP.", "output": {"entities": {"gene": [{"text": "EP2", "start": 82, "end": 85}], "disease": [{"text": "pain", "start": 4, "end": 8}]}, "relations": {}}, "schema": []}
{"input": "To determine whether the absence of the XT2 transporter affected sodium and fluid homeostasis, we measured systolic blood pressure by computerized tail-cuff manometry.", "output": {"entities": {"gene": [{"text": "XT2", "start": 40, "end": 43}], "disease": [{"text": "systolic blood pressure", "start": 107, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The 108 related individuals had diagnoses of BPI (7), bipolar II (2), cyclothymia (3), or major depressive disorder (19).", "output": {"entities": {"gene": [{"text": "BPI", "start": 45, "end": 48}], "disease": [{"text": "major depressive disorder", "start": 90, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Using human HCC tissues and cell lines HLE, Hep3B, and Huh7, we investigated whether fascin-1 is involved in epithelial-mesenchymal transition (EMT) and increases invasiveness, thus serving as a promoter of cancer aggressiveness.", "output": {"entities": {"gene": [{"text": "HCC", "start": 12, "end": 15}], "disease": [{"text": "aggressiveness", "start": 214, "end": 228}]}, "relations": {}}, "schema": []}
{"input": "A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs.", "output": {"entities": {"gene": [{"text": "FLJ10986", "start": 164, "end": 172}], "disease": [{"text": "sporadic", "start": 73, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Transforming growth factor beta1 (TGF beta1) induces renal hypertrophy and fibrosis, and cytokines like tumor necrosis factor-alpha (TNFalpha), chemoattractant protein-1 (MCP-1), and regulated upon activation and normal T cell expressed and secreted (RANTES) mediate macrophage infiltration into kidney.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 251, "end": 257}], "disease": [{"text": "fibrosis", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.", "output": {"entities": {"gene": [{"text": "B9D1", "start": 13, "end": 17}], "disease": [{"text": "Joubert syndrome", "start": 38, "end": 54}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "B9D1", "start": 13, "end": 17}, "tail": {"text": "Joubert syndrome", "start": 38, "end": 54}}]}}, "schema": []}
{"input": "When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay.", "output": {"entities": {"gene": [{"text": "LIG4", "start": 106, "end": 110}], "disease": [{"text": "mild", "start": 33, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "TP53 mutations were significantly more frequent in tumours with mutations in BRCA1 (70% by immunostaining and 60% by DNA analysis) and BRCA2 (67% and 50%) compared to sporadic controls (39% and 30%) (P = 0. 009).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 135, "end": 140}], "disease": [{"text": "sporadic", "start": 167, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "In boys with familial male-limited precocious puberty, an activating mutation of the luteinizing hormone receptor causes Leydig cell hyperplasia, resulting in excess testosterone production.", "output": {"entities": {"gene": [{"text": "luteinizing hormone receptor", "start": 85, "end": 113}], "disease": [{"text": "familial male-limited precocious puberty", "start": 13, "end": 53}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "luteinizing hormone receptor", "start": 85, "end": 113}, "tail": {"text": "familial male-limited precocious puberty", "start": 13, "end": 53}}]}}, "schema": []}
{"input": "The expression levels of HOXB8 mRNA in human gastric cancer tissues were analyzed through quantitative RT-PCR.", "output": {"entities": {"gene": [{"text": "HOXB8", "start": 25, "end": 30}], "disease": [{"text": "gastric cancer", "start": 45, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our studies of UM reveal a critical role of HIC1 in the regulation of tumorigenesis, at least partly through its downstream target, lncRNA-numb, and provide a potential therapeutic target for UM.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 60, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 86, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "by PAX5 (paired box 5); and BCL-2 (B-cell CLL/lymphoma 2) and IGFBP-6 (insulin-like growth factor binding protein 6) by GLI1.", "output": {"entities": {"gene": [{"text": "GLI1", "start": 120, "end": 124}], "disease": [{"text": "lymphoma", "start": 46, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Metallothionein, natriuretic peptides, coagulation factor VII, cysteine proteinase inhibitor, peroxisome proliferator activator receptor gamma and myosin light chain kinase genes were previously suspected to be related to several cardiovascular diseases, however, most of these genes have not previously been shown to be related to myocardial ischemia/reperfusion.", "output": {"entities": {"gene": [{"text": "coagulation factor VII", "start": 39, "end": 61}], "disease": [{"text": "myocardial ischemia", "start": 332, "end": 351}]}, "relations": {}}, "schema": []}
{"input": "Patients with tumor tissues that UBD-positive expression alone or in combination with p65 nuclei translocation recurred early had a significantly shorter survival time (P < 0. 001), especially in stage IIB-IIC patients.", "output": {"entities": {"gene": [{"text": "UBD", "start": 33, "end": 36}], "disease": [{"text": "translocation", "start": 97, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Involvement of microtubule-associated protein 2 (MAP2) in oral cancer cell motility: a novel biological function of MAP2 in non-neuronal cells.", "output": {"entities": {"gene": [{"text": "MAP2", "start": 49, "end": 53}], "disease": [{"text": "oral cancer", "start": 58, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefore ascribed anti-inflammatory properties.", "output": {"entities": {"gene": [{"text": "Urocortin", "start": 0, "end": 9}], "disease": [{"text": "edema", "start": 56, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Three novel C-terminal mutants of the HSD3B2 gene are responsible for classical 3beta-HSD deficiency.", "output": {"entities": {"gene": [{"text": "HSD3B2", "start": 38, "end": 44}], "disease": [{"text": "3beta-HSD deficiency", "start": 80, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HSD3B2", "start": 38, "end": 44}, "tail": {"text": "3beta-HSD deficiency", "start": 80, "end": 100}}]}}, "schema": []}
{"input": "LRRC3B methylation has significant tumor specificity and may be a biomarker of CRC.", "output": {"entities": {"gene": [{"text": "LRRC3B", "start": 0, "end": 6}], "disease": [{"text": "CRC", "start": 79, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LRRC3B", "start": 0, "end": 6}, "tail": {"text": "CRC", "start": 79, "end": 82}}]}}, "schema": []}
{"input": "Also, 4. 1G deletions were seen in 11/27 (41%) patients who either died of disease or had residual/recurrent tumor vs 5/41 patients with no evidence of disease at last follow-up (P = 0. 009).", "output": {"entities": {"gene": [{"text": "4. 1G", "start": 6, "end": 11}], "disease": [{"text": "recurrent tumor", "start": 99, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "With respect to CRF-BP, no significant difference in placental mRNA expression was observed among samples collected after term or preterm delivery and cesarean delivery.", "output": {"entities": {"gene": [{"text": "CRF-BP", "start": 16, "end": 22}], "disease": [{"text": "preterm delivery", "start": 130, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently identified on chromosome 6p22.", "output": {"entities": {"gene": [{"text": "NHLRC1", "start": 29, "end": 35}], "disease": [{"text": "LD", "start": 18, "end": 20}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NHLRC1", "start": 29, "end": 35}, "tail": {"text": "LD", "start": 18, "end": 20}}]}}, "schema": []}
{"input": "The morphological studies suggest that BRCA1 tumours differ from BRCA2 tumours and from sporadic breast cancers.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 65, "end": 70}], "disease": [{"text": "sporadic", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Specifically, microRNA-21 (miR-21) is predicted as a PH-modifying microRNA, regulating targets integral to bone morphogenetic protein (BMP) and Rho/Rho-kinase signaling as well as functional pathways associated with hypoxia, inflammation, and genetic haploinsufficiency of BMP receptor type 2.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 27, "end": 33}], "disease": [{"text": "hypoxia", "start": 216, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "We determined the distribution of hippocampal FGF-2 and its receptor (FGFR1) mRNA in post-mortem brains of people who suffered from major depression, bipolar disorder and schizophrenia and those of controls.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 70, "end": 75}], "disease": [{"text": "major depression", "start": 132, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGFR1", "start": 70, "end": 75}, "tail": {"text": "major depression", "start": 132, "end": 148}}]}}, "schema": []}
{"input": "Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.", "output": {"entities": {"gene": [{"text": "HRAS", "start": 47, "end": 51}], "disease": [{"text": "Costello syndrome", "start": 95, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRAS", "start": 47, "end": 51}, "tail": {"text": "Costello syndrome", "start": 95, "end": 112}}]}}, "schema": []}
{"input": "Treatment with IGF-I alone induced a significant increase in body length (108% of control) and weight (112%) as well as an increase in weight of the submandibular salivary glands (135%), kidneys (124%), femoral muscles (111%), testes (129%), and spleen (126%) compared with saline-treated controls.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 15, "end": 20}], "disease": [{"text": "weight", "start": 95, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "This study compared hyperoxia or ACN treatments of rats with respect to lipid peroxidation and PLC levels in the heart and cerebral cortex.", "output": {"entities": {"gene": [{"text": "ACN", "start": 33, "end": 36}], "disease": [{"text": "hyperoxia", "start": 20, "end": 29}]}, "relations": {}}, "schema": []}
{"input": "Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.", "output": {"entities": {"gene": [{"text": "PGAP3", "start": 13, "end": 18}], "disease": [{"text": "hyperphosphatasia with mental retardation", "start": 70, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PGAP3", "start": 13, "end": 18}, "tail": {"text": "hyperphosphatasia with mental retardation", "start": 70, "end": 111}}]}}, "schema": []}
{"input": "In addition, breast cancer risk was significantly associated with an increasing number of combined variant alleles of XRCC1 Arg194Trp, XRCC3 Thr241Met, and ERCC4/XPF Arg415Gln in a four-level model (P (trend) = 0. 04): OR = 1. 0 for those without a variant allele (referent group); OR = 1. 04 (95% CI = 0. 67-1. 61) for those with one variant allele; OR = 1. 38 (95% CI = 0. 83-2. 29) for those with two variant alleles; and age-adjusted OR = 2. 60 (95% CI = 1. 03-6. 59) for those with three or more variant alleles after adjustment for age, family history, age at menarche, age at first live birth, and body mass index.", "output": {"entities": {"gene": [{"text": "ERCC4", "start": 156, "end": 161}], "disease": [{"text": "body mass index", "start": 605, "end": 620}]}, "relations": {}}, "schema": []}
{"input": "We therefore examined the possible interaction between the T393C polymorphism and gamma-glutamyl transpeptidase (GGT), which is an established biomarker of alcohol consumption, in the association with glucose metabolism as well as with hypertension in a Japanese population.", "output": {"entities": {"gene": [{"text": "GGT", "start": 113, "end": 116}], "disease": [{"text": "alcohol consumption", "start": 156, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The presence of anti-r beta 2GP1 antibodies was associated with an increased frequency of history of thrombosis and/or recurrent abortion; hence anti-r beta 2GP1 assay provided better specificity than conventional ACL assay.", "output": {"entities": {"gene": [{"text": "ACL", "start": 214, "end": 217}], "disease": [{"text": "recurrent abortion", "start": 119, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "All sporadic odontogenic keratocysts were negative for p53 and cyclin D1.", "output": {"entities": {"gene": [{"text": "p53", "start": 55, "end": 58}], "disease": [{"text": "sporadic", "start": 4, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "The SNPs of IRS-2 gene 3'-UTR in 4 patients with Type 2 diabetes mellitus were detected by PCR-DHPLC and were identified by DNA sequencing. diabetes mellitus.", "output": {"entities": {"gene": [{"text": "UTR", "start": 26, "end": 29}], "disease": [{"text": "diabetes", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Levels were correlated with demographic and clinical variables, cerebrospinal fluid Abeta1-42, total tau and phospho-tau levels, as well as with single nucleotide polymorphisms (SNPs) of genes which either have been reported to influence the immune system, the amyloid cascade or the occurrence of PD (ApoE, GSK3B, HLA-DRA, HSPA5, SNCA, and STK39).", "output": {"entities": {"gene": [{"text": "HLA-DRA", "start": 315, "end": 322}], "disease": [{"text": "amyloid", "start": 261, "end": 268}]}, "relations": {}}, "schema": []}
{"input": "Physiologically, the triggering of TRPV2 by agonists/activators (e. g., growth factors, hormones and cannabinoids), by inducing TRPV2 translocation from the endosome to the plasmatic membrane, inhibit cell proliferation and induce necrosis and/or apoptosis.", "output": {"entities": {"gene": [{"text": "TRPV2", "start": 35, "end": 40}], "disease": [{"text": "necrosis", "start": 231, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.", "output": {"entities": {"gene": [{"text": "KIT ligand", "start": 29, "end": 39}], "disease": [{"text": "familial progressive hyperpigmentation", "start": 68, "end": 106}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "KIT ligand", "start": 29, "end": 39}, "tail": {"text": "familial progressive hyperpigmentation", "start": 68, "end": 106}}]}}, "schema": []}
{"input": "Here, we demonstrate that overexpression of CKB-C283S, a dominant-negative construct that lacks the kinase function but retains its ability to dimerize, causes remarkable changes in cell shape, adhesion, and invasion.", "output": {"entities": {"gene": [{"text": "CKB", "start": 44, "end": 47}], "disease": [{"text": "adhesion", "start": 194, "end": 202}]}, "relations": {}}, "schema": []}
{"input": "Additionally, these studies suggest that regulation of GR-mediated plasticity may play a role in the treatment of bipolar disorder and raise the possibility that agents affecting BAG-1 more directly may represent novel therapies for this devastating illness.", "output": {"entities": {"gene": [{"text": "BAG-1", "start": 179, "end": 184}], "disease": [{"text": "bipolar disorder", "start": 114, "end": 130}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAG-1", "start": 179, "end": 184}, "tail": {"text": "bipolar disorder", "start": 114, "end": 130}}]}}, "schema": []}
{"input": "Vitamin D and DBP levels were measured by tandem mass spectrometry and ELISA, respectively, in serum and DBP in the sol phase of sputum in a subset of 60 patients.", "output": {"entities": {"gene": [{"text": "DBP", "start": 14, "end": 17}], "disease": [{"text": "sol", "start": 116, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting.", "output": {"entities": {"gene": [{"text": "SDHD", "start": 73, "end": 77}], "disease": [{"text": "PGL", "start": 64, "end": 67}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SDHD", "start": 73, "end": 77}, "tail": {"text": "PGL", "start": 64, "end": 67}}]}}, "schema": []}
{"input": "To assess potential effects of variants in six lipid modulating genes (SORT1, HMGCR, MLXIPL, FADS2, APOE and MAFB) on early development of dyslipidemia independent of the degree of obesity in children, we investigated their association with total (TC), low density lipoprotein (LDL-C), high density lipoprotein (HDL-C) cholesterol and triglyceride (TG) levels in 594 children.", "output": {"entities": {"gene": [{"text": "FADS2", "start": 93, "end": 98}], "disease": [{"text": "obesity in children", "start": 181, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Here, we show for the first time that expression of FRNK negatively regulates IL-4-mediated inflammation in a human model of eosinophil recruitment.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 78, "end": 82}], "disease": [{"text": "inflammation", "start": 92, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "In available genome-wide association results from the Psychiatric Genomics Consortium we found that SNPs in CTNND2 collectively showed an increased signal for schizophrenia (P & #8201; & lt; & #8201; 1e (-5)) and major depressive disorder (P & #8201; & lt; & #8201; 1e (-5)), but not for bipolar disorder.", "output": {"entities": {"gene": [{"text": "CTNND2", "start": 108, "end": 114}], "disease": [{"text": "major depressive disorder", "start": 213, "end": 238}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CTNND2", "start": 108, "end": 114}, "tail": {"text": "major depressive disorder", "start": 213, "end": 238}}]}}, "schema": []}
{"input": "On day 1 after ischemia, however, CAD mRNA and protein were significantly increased in the CA1 sector, and then CAD protein immunohistochemically showed a translocation from the perikarya into the nucleus.", "output": {"entities": {"gene": [{"text": "CA1", "start": 91, "end": 94}], "disease": [{"text": "translocation", "start": 155, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Our results showed that BPA-treated rabbits showed insulin resistance, prominent adipose accumulation and hepatic steatosis.", "output": {"entities": {"gene": [{"text": "BPA", "start": 24, "end": 27}], "disease": [{"text": "hepatic steatosis", "start": 106, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "Craniofacial abnormalities resulting from targeted disruption of the murine Sim2 gene.", "output": {"entities": {"gene": [{"text": "Sim2", "start": 76, "end": 80}], "disease": [{"text": "Craniofacial abnormalities", "start": 0, "end": 26}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Sim2", "start": 76, "end": 80}, "tail": {"text": "Craniofacial abnormalities", "start": 0, "end": 26}}]}}, "schema": []}
{"input": "These results suggest that p11 loss in rodent and human nucleus accumbens may contribute to the pathophysiology of depression.", "output": {"entities": {"gene": [{"text": "p11", "start": 27, "end": 30}], "disease": [{"text": "depression", "start": 115, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "p11", "start": 27, "end": 30}, "tail": {"text": "depression", "start": 115, "end": 125}}]}}, "schema": []}
{"input": "We therefore investigated the involvement of SHH signaling in the pathogenesis of neuroblastoma (NB), a common childhood malignant tumor of the sympathetic nervous system.", "output": {"entities": {"gene": [{"text": "SHH", "start": 45, "end": 48}], "disease": [{"text": "neuroblastoma", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, LPA and its receptors have also been implicated in the tubular interstitial cell fibrosis (TIF) and cyst formation in autosomal dominant polycystic kidney disease (PKD).", "output": {"entities": {"gene": [{"text": "LPA", "start": 15, "end": 18}], "disease": [{"text": "fibrosis", "start": 96, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "High plasma CXCL10 levels are associated with HCV-genotype 1, and higher insulin resistance, fibrosis, and HIV viral load in HIV/HCV coinfected patients.", "output": {"entities": {"gene": [{"text": "CXCL10", "start": 12, "end": 18}], "disease": [{"text": "fibrosis", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In normal esophageal and ESCC tissues, the positive detection rates were 21. 0% (13/62) and 69. 4% (43/62) for NS mRNA staining, 40. 3% (25/62) and 77. 4% (48/62) for EGF mRNA staining, and 30. 6% (19/62) and 75. 8% (41/62) for EGFR mRNA staining, respectively.", "output": {"entities": {"gene": [{"text": "EGF", "start": 167, "end": 170}], "disease": [{"text": "esophageal", "start": 10, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Mice lacking pituitary adenylate cyclase-activating polypeptide (PACAP) are prone to sudden death in the second post-natal week, having respiratory and metabolic disturbances reminiscent of the human Sudden Infant Death Syndrome (SIDS).", "output": {"entities": {"gene": [{"text": "PACAP", "start": 65, "end": 70}], "disease": [{"text": "sudden death", "start": 85, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "Sequencing analysis of the 3 patients revealed the presence of a novel heterozygous T-to-C transition mutation in exon 1 of the keratin 13 gene, with no abnormalities detected in the keratin 4 gene.", "output": {"entities": {"gene": [{"text": "keratin 4", "start": 183, "end": 192}], "disease": [{"text": "abnormalities", "start": 153, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.", "output": {"entities": {"gene": [{"text": "mitochondrial trifunctional protein beta-subunit", "start": 104, "end": 152}], "disease": [{"text": "hepatic steatosis", "start": 58, "end": 75}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "mitochondrial trifunctional protein beta-subunit", "start": 104, "end": 152}, "tail": {"text": "hepatic steatosis", "start": 58, "end": 75}}]}}, "schema": []}
{"input": "We quantified mRNA expression of subcutaneous adipose tissue fatty-acid-handling proteins (ALBP, KLBP, FATP1, FATP4, CD36, ACS1) in 17 monozygotic twin-pairs with a range of intra-pair differences (Delta) in BMI and detailed measures of obesity and insulin resistance, allowing influences of genetic and non-genetic factors to be distinguished.", "output": {"entities": {"gene": [{"text": "FATP4", "start": 110, "end": 115}], "disease": [{"text": "insulin resistance", "start": 249, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.", "output": {"entities": {"gene": [{"text": "ZAK", "start": 34, "end": 37}], "disease": [{"text": "congenital myopathy with fibre type disproportion", "start": 46, "end": 95}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ZAK", "start": 34, "end": 37}, "tail": {"text": "congenital myopathy with fibre type disproportion", "start": 46, "end": 95}}]}}, "schema": []}
{"input": "In this article, Alberto Kaumann suggests that 5-HT may be involved in the genesis of atrial fibrillation and associated thromboembolic stroke and that both the arrhythmia and stroke could be prevented by inhibiting 5-HT4 receptors.", "output": {"entities": {"gene": [{"text": "5-HT4", "start": 216, "end": 221}], "disease": [{"text": "stroke", "start": 136, "end": 142}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "5-HT4", "start": 216, "end": 221}, "tail": {"text": "stroke", "start": 136, "end": 142}}]}}, "schema": []}
{"input": "The CHEK2 * 1100delC variant was found in 1. 2% of the cases (sporadic: 0. 7%; familial: 1. 6%; hereditary: 1. 4%) and in 1. 0% of the controls.", "output": {"entities": {"gene": [{"text": "CHEK2", "start": 4, "end": 9}], "disease": [{"text": "sporadic", "start": 62, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "We analyzed the expression of 15S-lipoxygenase-2 (15-LOX-2) mRNA and protein in surgical specimens from normal (N = 37) and malignant (63) esophageal tissues using in situ hybridization and immunohistochemistry (IHC), and in normal (1), premalignant (1), and malignant (5) esophageal cell lines using Northern and Western blotting.", "output": {"entities": {"gene": [{"text": "15-LOX-2", "start": 50, "end": 58}], "disease": [{"text": "esophageal", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "MDD exhibited significant antiviral and anti-inflammatory effects on decreasing levels of Eotaxin, IL-4 and IFN-γ in serum and lung tissue, inhibiting pneumonia, decreasing lung viral loads and reversaling RSV-induced inflammation through down-regulation of TLR4 and NF-κB mRNA expression in the lung tissue of RSV-infected mice.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 99, "end": 103}], "disease": [{"text": "inflammation", "start": 218, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "A performance evaluation of three drug-induced liver injury biomarkers in the rat: alpha-glutathione S-transferase, arginase 1, and 4-hydroxyphenyl-pyruvate dioxygenase.", "output": {"entities": {"gene": [{"text": "arginase 1", "start": 116, "end": 126}], "disease": [{"text": "drug-induced liver injury", "start": 34, "end": 59}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "arginase 1", "start": 116, "end": 126}, "tail": {"text": "drug-induced liver injury", "start": 34, "end": 59}}]}}, "schema": []}
{"input": "We conclude that mutation of AIRE per se has little influence on the APECED phenotype, whereas, in contrast to earlier reports, HLA class II is a significant determinant.", "output": {"entities": {"gene": [{"text": "AIRE", "start": 29, "end": 33}], "disease": [{"text": "APECED", "start": 69, "end": 75}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 29, "end": 33}, "tail": {"text": "APECED", "start": 69, "end": 75}}]}}, "schema": []}
{"input": "The pathophysiological aspects of radiation-induced fibrosis (RIF) have not been well characterized.", "output": {"entities": {"gene": [{"text": "RIF", "start": 62, "end": 65}], "disease": [{"text": "fibrosis", "start": 52, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "The XRCC1 rs25487 polymorphism may influence the development of cirrhosis in viral hepatitis patients, and additional investigation will be necessary.", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 4, "end": 9}], "disease": [{"text": "viral hepatitis", "start": 77, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "In untransfected cells or in cells transfected with GFP-empty vector construct we observed weak apoptosis concomitant with mild depolarization of mitochondrial membrane, depletion of reduced glutathione and release of cytochrome c. Following silencing of p53 or p21 we observed extensive apoptosis concomitant with extensive depolarization of mitochondrial membrane and depletion of reduced glutathione.", "output": {"entities": {"gene": [{"text": "cytochrome c", "start": 218, "end": 230}], "disease": [{"text": "mild", "start": 123, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The new MLH1 variant confers a high risk of CRC and identifies a previously unrecognized mechanism in microsatellite-stable tumors.", "output": {"entities": {"gene": [{"text": "MLH1", "start": 8, "end": 12}], "disease": [{"text": "CRC", "start": 44, "end": 47}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MLH1", "start": 8, "end": 12}, "tail": {"text": "CRC", "start": 44, "end": 47}}]}}, "schema": []}
{"input": "To study the frequency of HFE gene mutations (C282Y, H63D, S65C) in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors) from Guipúzcoa, Spain.", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 26, "end": 34}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Semiquantitative reverse transcription-polymerase chain reaction with microdissection demonstrated that Notch-1 expression was continuous from precursor lesions to carcinoma cells, whereas Pdx-1 expression was attenuated in carcinoma cells compared to precursor lesions.", "output": {"entities": {"gene": [{"text": "Pdx-1", "start": 189, "end": 194}], "disease": [{"text": "carcinoma", "start": 164, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "An interaction with early maternal smoking was found for three TNF SNPs (-857C/T, Intron 1, Intron 3) with respect to early wheeze (up to 2 years of age).", "output": {"entities": {"gene": [{"text": "TNF", "start": 63, "end": 66}], "disease": [{"text": "smoking", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "Therefore, we determined the methylation status of the MSH2 gene in 268 CRC tissues, including 222 sporadic CRCs and 46 Lynch syndrome tumors that did not express MSH2.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 55, "end": 59}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Our findings suggest that the CLOCK C3111T polymorphism may affect personality traits in healthy Japanese subjects.", "output": {"entities": {"gene": [{"text": "CLOCK", "start": 30, "end": 35}], "disease": [{"text": "personality traits", "start": 67, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The candidate genes COQ2, ATP2B1, and DMPK, representing pathways involved in myocellular energy transfer, calcium homeostasis, and myotonic dystonia, respectively, were validated as markers for the common myalgia observed in patients receiving statin therapy.", "output": {"entities": {"gene": [{"text": "COQ2", "start": 20, "end": 24}], "disease": [{"text": "myalgia", "start": 206, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "The E22K-RLC mutation has been associated with a rare variant of cardiac hypertrophy defined by mid-left ventricular obstruction due to papillary muscle hypertrophy.", "output": {"entities": {"gene": [{"text": "RLC", "start": 9, "end": 12}], "disease": [{"text": "cardiac hypertrophy", "start": 65, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Since genetic variations in the GTP cyclohydrolase (GCH1) gene have been reported to protect some patients from pain, we investigated the effect of the \" pain protective haplotype \" in well characterized patients with chronic pancreatitis (CP) or recurrent acute pancreatitis (RAP) from the North American Pancreatitis Study 2 (NAPS2).", "output": {"entities": {"gene": [{"text": "RAP", "start": 277, "end": 280}], "disease": [{"text": "recurrent acute pancreatitis", "start": 247, "end": 275}]}, "relations": {}}, "schema": []}
{"input": "The breast cancer SIR was 10. 6 (95% CI, 5. 2-21. 6) for relatives of breast cancer patients, compared with 3. 3 (95% CI, 1. 4-7. 3) for relatives of ovarian cancer patients (two-sided P = 0. 02 for difference by site).", "output": {"entities": {"gene": [{"text": "2-21", "start": 44, "end": 48}], "disease": [{"text": "breast cancer", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "PTs showed hypermethylation of A isoform of the RAS-association domain family 1 (RASSF1A), adenomatous polyposis coli (APC), chemokine C-X-C motif ligand 12 (CXCL12), and disintegrin and metalloprotease domain 23 (ADAM23) (means 38. 98%, 24. 84%, 12. 04%, and 10. 01%, respectively).", "output": {"entities": {"gene": [{"text": "CXCL12", "start": 158, "end": 164}], "disease": [{"text": "adenomatous polyposis coli", "start": 91, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Previous studies have shown that cochlin is cleaved by aggrecanase-1 during inflammation in the spleen and that the cleaved LCCL domain functions as an innate immune mediator.", "output": {"entities": {"gene": [{"text": "cochlin", "start": 33, "end": 40}], "disease": [{"text": "inflammation", "start": 76, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The aim of this retrospective multicenter study was to assess the correlation between TS, 5, 10-methylenetetrahydrofolate reductase (MTHFR) and excision repair cross-complementing group 1 (ERCC1) gene polymorphisms and the efficacy of pemetrexed-based first-line chemotherapy of mesothelioma patients.", "output": {"entities": {"gene": [{"text": "MTHFR", "start": 133, "end": 138}], "disease": [{"text": "mesothelioma", "start": 279, "end": 291}]}, "relations": {}}, "schema": []}
{"input": "The insulin resistance associated with glucotoxicity in our model reflects in part decreased availability of PtdIns (3, 4, 5) P3, which correlates with increased PTEN protein expression.", "output": {"entities": {"gene": [{"text": "PTEN", "start": 162, "end": 166}], "disease": [{"text": "insulin resistance", "start": 4, "end": 22}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PTEN", "start": 162, "end": 166}, "tail": {"text": "insulin resistance", "start": 4, "end": 22}}]}}, "schema": []}
{"input": "COMT polymorphisms in impulsively violent offenders with antisocial personality disorder.", "output": {"entities": {"gene": [{"text": "COMT", "start": 0, "end": 4}], "disease": [{"text": "antisocial personality disorder", "start": 57, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Finally, plasma Angptl4 was independently and negatively associated with carotid artery sclerosis measured by 3-T MRI in subjects with metabolic syndrome and low-grade systemic inflammation.", "output": {"entities": {"gene": [{"text": "MRI", "start": 114, "end": 117}], "disease": [{"text": "inflammation", "start": 177, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetic analysis of the NF2 gene revealed typical truncating mutations in all the 5 familial cases and in 2/10 sporadic cases analysed.", "output": {"entities": {"gene": [{"text": "NF2 gene", "start": 34, "end": 42}], "disease": [{"text": "sporadic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Myocilin is expressed in podocytes of the kidney and induced in mesangial cells during experimental mesangioproliferative glomerulonephritis.", "output": {"entities": {"gene": [{"text": "Myocilin", "start": 0, "end": 8}], "disease": [{"text": "glomerulonephritis", "start": 122, "end": 140}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, prevalence of overweight/obesity was lower among carriers of at least three minor alleles of the-3826A/G and ADRB3 Trp64Arg polymorphisms than among patients with fewer than three minor alleles (54. 5% vs. 79. 1%; OR = 0. 288; P = 0. 007, respectively).", "output": {"entities": {"gene": [{"text": "ADRB3", "start": 124, "end": 129}], "disease": [{"text": "overweight", "start": 29, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "After excluding subjects with chromosomal disorders, there were no significant correlations between AR levels and other indices of androgen action, such as semen volume, seminal fructose, or sex hormone-binding globulin levels.", "output": {"entities": {"gene": [{"text": "sex hormone-binding globulin", "start": 191, "end": 219}], "disease": [{"text": "chromosomal disorders", "start": 30, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "Factor IX BM Nagoya (IX Nagoya) is a natural mutant of factor IX responsible for severe hemophilia B.", "output": {"entities": {"gene": [{"text": "factor IX", "start": 55, "end": 64}], "disease": [{"text": "hemophilia B", "start": 88, "end": 100}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "factor IX", "start": 55, "end": 64}, "tail": {"text": "hemophilia B", "start": 88, "end": 100}}]}}, "schema": []}
{"input": "The PAC1 receptor antagonist, PACAP (6-38), abolished MMA dilation caused by picomolar concentrations of PACAP.", "output": {"entities": {"gene": [{"text": "PACAP", "start": 30, "end": 35}], "disease": [{"text": "dilation", "start": 58, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The degree of myelosuppression following HD-MTX was similar for patients with TPMT (IA) and patients with high TPMT activity (TPMT (HA)), when HD-MTX started with same blood counts and 6MP doses.", "output": {"entities": {"gene": [{"text": "MTX", "start": 44, "end": 47}], "disease": [{"text": "myelosuppression", "start": 14, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Though targets for TSHR autoimmunity could clearly be shown, immunization methods were not efficient enough to cause clear signs of orbital inflammation.", "output": {"entities": {"gene": [{"text": "TSHR", "start": 19, "end": 23}], "disease": [{"text": "inflammation", "start": 140, "end": 152}]}, "relations": {}}, "schema": []}
{"input": "We further showed that knockdown of Dnmt1 and restoration of SFRP1 inhibited core-induced in vivo tumor growth and aggressiveness in a xenograft HCC model.", "output": {"entities": {"gene": [{"text": "SFRP1", "start": 61, "end": 66}], "disease": [{"text": "aggressiveness", "start": 115, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Under a high-sucrose diet, transgenic mice had insulin resistance and mild glucose intolerance; under a high-salt diet, they had elevated blood pressure with increased renal RAS-related C3 botulinum substrate 1 (RAC1)-GTP, which is an activator of mineralocorticoid receptor.", "output": {"entities": {"gene": [{"text": "RAC1", "start": 212, "end": 216}], "disease": [{"text": "mild", "start": 70, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "HIV-1 Nef expression in microglia induced CCL2 expression together with disrupting striatal dopaminergic transmission, resulting in hyperactive behaviors which are observed in mania and other psychiatric comorbidities among HIV-infected persons.", "output": {"entities": {"gene": [{"text": "CCL2", "start": 42, "end": 46}], "disease": [{"text": "mania", "start": 176, "end": 181}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCL2", "start": 42, "end": 46}, "tail": {"text": "mania", "start": 176, "end": 181}}]}}, "schema": []}
{"input": "The regression analysis of cancer risk as a function of the amount of smoking showed that the susceptibility of people who had GSTM1 null genotype increased from 45 pack-years, while the susceptibility of people with NAT2 intermediate or slow genotype increased rapidly from 25 pack-years, compared with non-smokers.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 217, "end": 221}], "disease": [{"text": "smoking", "start": 70, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high-performance liquid chromatography (DHPLC) analysis.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 30, "end": 36}], "disease": [{"text": "JP", "start": 77, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1A", "start": 30, "end": 36}, "tail": {"text": "JP", "start": 77, "end": 79}}]}}, "schema": []}
{"input": "Thus, the Ca (2 +)-sensing receptor gene is a candidate parathyroid tumor suppressor gene, with inactivating mutations plausibly explaining set-point abnormalities in the regulation of both parathyroid cellular proliferation and PTH secretion by extracellular Ca2 + similar to those seen in hyperparathyroidism.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 260, "end": 263}], "disease": [{"text": "parathyroid tumor", "start": 56, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Neuropeptides (1-100 pmol per site) such as rat calcitonin gene-related peptide (CGRP), SP, neurokinin A (NKA), and vasoactive intestinal peptide (VIP), which are released from capsaicin-sensitive neurones, caused ear oedema by intradermal injection.", "output": {"entities": {"gene": [{"text": "calcitonin", "start": 48, "end": 58}], "disease": [{"text": "oedema", "start": 218, "end": 224}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "calcitonin", "start": 48, "end": 58}, "tail": {"text": "oedema", "start": 218, "end": 224}}]}}, "schema": []}
{"input": "The aim of this study was to investigate the influence of HLA-B27, MRI BMO and psoriasis on long-term outcomes in early SpA-related knee joint oligoarthritis.", "output": {"entities": {"gene": [{"text": "MRI", "start": 67, "end": 70}], "disease": [{"text": "oligoarthritis", "start": 143, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "Delineation, functional validation, and bioinformatic evaluation of gene expression in thyroid follicular carcinomas with the PAX8-PPARG translocation.", "output": {"entities": {"gene": [{"text": "PPARG", "start": 131, "end": 136}], "disease": [{"text": "translocation", "start": 137, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "DNMT1 and DNMT3a were immunoreactive in 100 and 48% of HCCs and 52 and 0% of non-neoplastic liver tissues.", "output": {"entities": {"gene": [{"text": "DNMT3a", "start": 10, "end": 16}], "disease": [{"text": "non-neoplastic", "start": 77, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "The marked increase in the number of TUNEL-positive cells found in the CA1 region after ischemia was almost completely abolished by the hrHGF treatment.", "output": {"entities": {"gene": [{"text": "CA1", "start": 71, "end": 74}], "disease": [{"text": "ischemia", "start": 88, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "The HE (3 to 100 mg kg (-1), p. o., 1 h) inhibited in a graded manner, the hyperalgesia induced by bradykinin (3 nmol/paw) or substance P (10 nmol/paw) in rat paw, with mean ED50 values of 54. 5 and 53. 7 mg kg (-1), respectively.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 99, "end": 109}], "disease": [{"text": "hyperalgesia", "start": 75, "end": 87}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 99, "end": 109}, "tail": {"text": "hyperalgesia", "start": 75, "end": 87}}]}}, "schema": []}
{"input": "Additionally, loss of MMR appears to accelerate tumorigenesis in an Apc deficient background.", "output": {"entities": {"gene": [{"text": "MMR", "start": 22, "end": 25}], "disease": [{"text": "tumorigenesis", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "The CHK2 gene, whose product is a checkpoint kinase that plays a central role in DNA damage response and acts upstream of TP53, has been found to be mutated in a subset of Li-Fraumeni syndrome without mutations of TP53 and in some other sporadic human tumors, earmarking this serine/threonine kinase as a candidate tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 4, "end": 8}], "disease": [{"text": "sporadic", "start": 237, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Sex hormone binding globulin and insulin resistance.", "output": {"entities": {"gene": [{"text": "Sex hormone binding globulin", "start": 0, "end": 28}], "disease": [{"text": "insulin resistance", "start": 33, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The most common clinical subtypes of primary aldosteronism are aldosterone-producing adrenocortical adenoma (APA) and bilateral adrenal cortical hyperplasia (idiopathic hyperaldosteronism, or IHA).", "output": {"entities": {"gene": [{"text": "APA", "start": 109, "end": 112}], "disease": [{"text": "adrenocortical adenoma", "start": 85, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We studied the association between polymorphisms of genes coding for dopamine D (2) (DRD2), dopamine D (3) (DRD3), serotonin 2 (a) (HTR2A), and serotonin 2 (c) (HTR2C) receptors and Antipsychotic-Induced Parkinsonism (AIP), rigidity, bradykinesia, and rest-tremor in African-Caribbeans treated with antipsychotics.", "output": {"entities": {"gene": [{"text": "HTR2C", "start": 161, "end": 166}], "disease": [{"text": "tremor", "start": 257, "end": 263}]}, "relations": {}}, "schema": []}
{"input": "We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.", "output": {"entities": {"gene": [{"text": "FGFR2", "start": 60, "end": 65}], "disease": [{"text": "Crouzon syndrome", "start": 98, "end": 114}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR2", "start": 60, "end": 65}, "tail": {"text": "Crouzon syndrome", "start": 98, "end": 114}}]}}, "schema": []}
{"input": "Similarly, higher risks of lung or bladder cancer seen at various levels of smoking in association with polymorphism of the glutathione S-transferase gene GSTM1 or NAT1 and NAT2 genes involved in N-acetylation are reviewed.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 173, "end": 177}], "disease": [{"text": "smoking", "start": 76, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Constitutional and mosaic mutations in the PIK3R2 gene are associated with developmental brain disorders ranging from BPP with a normal head size to the MPPH syndrome.", "output": {"entities": {"gene": [{"text": "PIK3R2", "start": 43, "end": 49}], "disease": [{"text": "MPPH", "start": 153, "end": 157}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PIK3R2", "start": 43, "end": 49}, "tail": {"text": "MPPH", "start": 153, "end": 157}}]}}, "schema": []}
{"input": "The associations of cytochrome P450 1A1-Hinc II (CYP 1A1-Hinc II) and glutathion S-transferase-theta (GSTT1) polymorphisms with heavy primary dysmenorrhea were evaluated by Logistic regression, with adjustment for potential confounders.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 102, "end": 107}], "disease": [{"text": "primary dysmenorrhea", "start": 134, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "TIS21 negatively regulates hepatocarcinogenesis by disruption of cyclin B1-Forkhead box M1 regulation loop.", "output": {"entities": {"gene": [{"text": "cyclin B1", "start": 65, "end": 74}], "disease": [{"text": "hepatocarcinogenesis", "start": 27, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "The phenotype of the murine leukemias is CD4-CD8 +, in contrast to human leukemias, which are predominantly CD4 + CD8-.", "output": {"entities": {"gene": [{"text": "CD4", "start": 41, "end": 44}], "disease": [{"text": "leukemias", "start": 28, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the effect of partial or total transcortin deficiency using transcortin knockout mice on hypothalamus-pituitary-adrenal axis functioning and regulation as well as on behaviors linked to anxiety and depression traits in animals.", "output": {"entities": {"gene": [{"text": "transcortin", "start": 52, "end": 63}], "disease": [{"text": "depression", "start": 219, "end": 229}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "transcortin", "start": 52, "end": 63}, "tail": {"text": "depression", "start": 219, "end": 229}}]}}, "schema": []}
{"input": "We studied the expression of PRDX1 and PRDX6, in a series of thyroid tissue samples, covering different thyroid diseases, including 13 papillary thyroid carcinomas (PTCs).", "output": {"entities": {"gene": [{"text": "PRDX6", "start": 39, "end": 44}], "disease": [{"text": "thyroid diseases", "start": 104, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 57, "end": 62}], "disease": [{"text": "sporadic", "start": 26, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "Individual one-to-one correlation analysis of hyperalgesia and gene expression revealed that changes of Nav1. 7 (SCN9A) mRNA levels at 6 and 24 h correlated to the intensity of mechanical hyperalgesia recorded at 24 h post UV-irradiation (Pearson r: 0. 57, p < 0. 04 and r: 0. 82, p < 0. 001).", "output": {"entities": {"gene": [{"text": "SCN9A", "start": 113, "end": 118}], "disease": [{"text": "mechanical hyperalgesia", "start": 177, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Notch3, JAG1, Hes2, Hes4 and Hes5 were frequently hypermethylated in B leukemia cell lines and primary B-ALL, in contrast to T-ALL cell lines and patient samples.", "output": {"entities": {"gene": [{"text": "Hes4", "start": 20, "end": 24}], "disease": [{"text": "leukemia", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Reflecting therapy standards, we applied in our in vitro model fractionated RT with a single dose of 2Gy and clinically relevant concentrations of CT. Not only the impact of RT and/or CT with TMZ and/or VPA on the clonogenic potential and cell cycle of the glioblastoma cell lines T98G, U251MG, and U87MG was analyzed, but also the resulting cell death forms and release of danger signals such as heat-shock protein70 (Hsp70) and high-mobility group protein B1 (HMGB1).", "output": {"entities": {"gene": [{"text": "Hsp70", "start": 419, "end": 424}], "disease": [{"text": "shock", "start": 402, "end": 407}]}, "relations": {}}, "schema": []}
{"input": "In two patients heteroplasmic for the base pair (bp) 3243 mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS), RRF contained a great excess of mtDNA and transcripts of all species.", "output": {"entities": {"gene": [{"text": "RRF", "start": 172, "end": 175}], "disease": [{"text": "encephalopathy", "start": 107, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "In 7 hemangiopericytomas, SPF was significantly higher compared to the benign meningioma group, while only 1 tumor was aneuploid.", "output": {"entities": {"gene": [{"text": "SPF", "start": 26, "end": 29}], "disease": [{"text": "benign meningioma", "start": 71, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Based on our literature review, WDR72 mutations associated with dRTA have not been previously described.", "output": {"entities": {"gene": [{"text": "WDR72", "start": 32, "end": 37}], "disease": [{"text": "dRTA", "start": 64, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WDR72", "start": 32, "end": 37}, "tail": {"text": "dRTA", "start": 64, "end": 68}}]}}, "schema": []}
{"input": "Neuronal injury in manganese neurotoxicity (manganism) is thought to involve activation of astroglial cells and subsequent overproduction of nitric oxide (NO) by inducible nitric oxide synthase (NOS2).", "output": {"entities": {"gene": [{"text": "NOS2", "start": 195, "end": 199}], "disease": [{"text": "manganism", "start": 44, "end": 53}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOS2", "start": 195, "end": 199}, "tail": {"text": "manganism", "start": 44, "end": 53}}]}}, "schema": []}
{"input": "In addition, CCR5-deficient mice had an enhanced delayed-type hypersensitivity reaction and increased humoral responses to T cell-dependent antigenic challenge, indicating a novel role of CCR5 in down-modulating T cell-dependent immune response.", "output": {"entities": {"gene": [{"text": "CCR5", "start": 13, "end": 17}], "disease": [{"text": "hypersensitivity reaction", "start": 62, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Triple-negative breast cancer (TNBC), an immunophenotype defined by the absence of immunolabeling for estrogen receptor (ER), progesterone receptor (PR) and HER2 protein, has a highly aggressive behavior.", "output": {"entities": {"gene": [{"text": "HER2", "start": 157, "end": 161}], "disease": [{"text": "aggressive behavior", "start": 184, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "Rates of dimer dissociation, measured by a time-resolved cross-linking assay, and conformational changes in SOD1' s beta-barrel core, monitored by tryptophan fluorescence intensity, were compared with the rates of copper release and zinc release.", "output": {"entities": {"gene": [{"text": "SOD1' s", "start": 108, "end": 115}], "disease": [{"text": "dissociation", "start": 15, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "Results showed that NO production and iNOS mRNA expression in alveolar macrophages (AMs) were significantly increased along with significant increases in lung histological abnormalities and BAL proteins in the ANP group, all of which were further enhanced by pretreatment with L-Arg and attenuated by pretreatment with L-NAME, respectively.", "output": {"entities": {"gene": [{"text": "ANP", "start": 210, "end": 213}], "disease": [{"text": "abnormalities", "start": 172, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "We genotyped six PON3 tagging single nucleotide polymorphisms (tagSNPs) and examined their associations with PON1 activity, SLE risk, antiphopholipid autoantibodies (APA), lupus nephritis, carotid vascular disease, and inflammation.", "output": {"entities": {"gene": [{"text": "APA", "start": 166, "end": 169}], "disease": [{"text": "lupus nephritis", "start": 172, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Simple steatosis, hyperinsulinemia, hyperglycemia, insulin resistance, hypertriglycemia and marked increases in hepatic CYP2E1 and 4-HNE were present in 30-wk-old untreated OLETF rats.", "output": {"entities": {"gene": [{"text": "CYP2E1", "start": 120, "end": 126}], "disease": [{"text": "hyperinsulinemia", "start": 18, "end": 34}]}, "relations": {}}, "schema": []}
{"input": "These substrates are either parts of important signalling cascades (EGF, betacellulin, TGF-beta) or chemical components of myelin (neurofascin-ankyrin) known to be compromised in schizophrenia.", "output": {"entities": {"gene": [{"text": "betacellulin", "start": 73, "end": 85}], "disease": [{"text": "schizophrenia", "start": 179, "end": 192}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "betacellulin", "start": 73, "end": 85}, "tail": {"text": "schizophrenia", "start": 179, "end": 192}}]}}, "schema": []}
{"input": "In this study, we investigated the role of NF-κB in the adhesion of breast cancer cells to a substrate by using (-)-DHMEQ, a specific inhibitor of NF-κB.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 43, "end": 48}], "disease": [{"text": "adhesion", "start": 56, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Cyclin E and cyclin D1 expression distinguishes non-BRCA1/2 tumors from both sporadic and BRCA1-and BRCA2-associated tumors and may reflect different predisposition and pathogenesis in these groups.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 100, "end": 105}], "disease": [{"text": "sporadic", "start": 77, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The parental and engineered stem cells (HB1. F3, HB1. F3. CD, and HB1. F3. CD. IFN-β) significantly migrated toward endometrial cancer cells (Ishikawa) more than primary bovine fibroblasts (bovine FB).", "output": {"entities": {"gene": [{"text": "HB1", "start": 40, "end": 43}], "disease": [{"text": "endometrial cancer", "start": 116, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Expression of dnSTAT2 suppressed cell growth inhibition with a pharmacologically achievable concentration (100 IU/ml) of IFN-alpha in the IFN-alpha-sensitive skin squamous cell carcinoma cell line SRB12-p9.", "output": {"entities": {"gene": [{"text": "IFN-alpha", "start": 121, "end": 130}], "disease": [{"text": "skin squamous cell carcinoma", "start": 158, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Oral feeding of GTP as the sole source of drinking fluid to TRAMP mice results in significant inhibition of VEGF, MMP-2 and MMP-9.", "output": {"entities": {"gene": [{"text": "TRAMP", "start": 60, "end": 65}], "disease": [{"text": "drinking", "start": 42, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "The purpose of the present study was to explore the expression changes of intermedin/adrenomedullin 2 (IMD/ADM2), a novel small molecular bioactive peptide, and its receptors, calcitonin receptor-like receptor (CRLR) and receptor activity modifying proteins (RAMP1, RAMP2, RAMP3) in the right ventricle of rats with chronic hypoxia-induced pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "RAMP1", "start": 259, "end": 264}], "disease": [{"text": "pulmonary hypertension", "start": 340, "end": 362}]}, "relations": {}}, "schema": []}
{"input": "When the proband was evaluated at 7 years old for progressive visual loss, fundus exam was unremarkable (including no macular thickening clinically or by OCT) but ERG revealed cone-rod dysfunction with an electronegative waveform.", "output": {"entities": {"gene": [{"text": "ERG", "start": 163, "end": 166}], "disease": [{"text": "progressive visual loss", "start": 50, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Overall, our data suggest that miR-137 regulates growth of glioma cells and targets CSE1L, providing further understanding in the tumorigenesis of gliomas.", "output": {"entities": {"gene": [{"text": "miR-137", "start": 31, "end": 38}], "disease": [{"text": "tumorigenesis", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In nodules and/or HCCs of Wistar and BN rats, low or no increases in c-myc, Cyclins D1, E, and A, and E2F1 expression, and Cyclin-CDKs complex formation were associated with p16 (INK4A) overexpression and pRb hypophosphorylation.", "output": {"entities": {"gene": [{"text": "E2F1", "start": 102, "end": 106}], "disease": [{"text": "HCC", "start": 18, "end": 21}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "E2F1", "start": 102, "end": 106}, "tail": {"text": "HCC", "start": 18, "end": 21}}]}}, "schema": []}
{"input": "In the present study, we analyzed differences in melanoma cell gene expression in two-and three-dimensional cultures as function of ALCAM-mediated adhesion.", "output": {"entities": {"gene": [{"text": "ALCAM", "start": 132, "end": 137}], "disease": [{"text": "adhesion", "start": 147, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Our study seeks to support or refute this association and to evaluate the genetic biomarkers p53, bcl-2, Ki-67, and neovascularity between familial and sporadic disease.", "output": {"entities": {"gene": [{"text": "p53", "start": 93, "end": 96}], "disease": [{"text": "sporadic", "start": 152, "end": 160}]}, "relations": {}}, "schema": []}
{"input": "Recent studies have demonstrated that mutations in PINK1 (PARK6 locus) gene, encoding PTEN-induced kinase 1, are associated with both familial recessive and sporadic early onset parkinsonism.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 51, "end": 56}], "disease": [{"text": "sporadic", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "The CRP abnormal group had more coronary artery calcification (calcium scores > 5, 16. 7 vs. 0%; P = 0. 036) and more cardiac diastolic dysfunction expressed as deceleration time > 240 ms (16. 7 vs. 0%; P = 0. 036).", "output": {"entities": {"gene": [{"text": "CRP", "start": 4, "end": 7}], "disease": [{"text": "coronary artery calcification", "start": 32, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical tests for MUC2 and TFF2 were negative both in samples of Barret' s metaplasia and in SCC.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 39, "end": 43}], "disease": [{"text": "metaplasia", "start": 87, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population.", "output": {"entities": {"gene": [{"text": "FBN1", "start": 177, "end": 181}], "disease": [{"text": "Marfan syndrome", "start": 140, "end": 155}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FBN1", "start": 177, "end": 181}, "tail": {"text": "Marfan syndrome", "start": 140, "end": 155}}]}}, "schema": []}
{"input": "One case could not be classified as either central or peripheral, showed EWS/FLI1 translocation.", "output": {"entities": {"gene": [{"text": "EWS", "start": 73, "end": 76}], "disease": [{"text": "translocation", "start": 82, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Inactivating mutations of the mineralocorticoid receptor (MR; NR3C2) are responsible for autosomal dominant and some sporadic cases of PHA1.", "output": {"entities": {"gene": [{"text": "NR3C2", "start": 62, "end": 67}], "disease": [{"text": "sporadic", "start": 117, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Importantly, the ratio of XIAP to XAF1 expression significantly (P = 0. 03) increased from non-neoplastic mucosa to adenocarcinomas and the increase was even higher in carcinomas of advanced stage (P = 0. 01).", "output": {"entities": {"gene": [{"text": "XAF1", "start": 34, "end": 38}], "disease": [{"text": "non-neoplastic", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Finally, CRH, PLAC1, and selectin-P were plotted against quantitative distributions of blood pressure and proteinuria.", "output": {"entities": {"gene": [{"text": "CRH", "start": 9, "end": 12}], "disease": [{"text": "blood pressure", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 100, "end": 106}], "disease": [{"text": "abnormalities", "start": 159, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We also observed interaction between body mass index and IGF1 19 CA repeat (p = 0. 06) and between weight gain and the-202 C > A IGFBP3 polymorphism (p = 0. 05) in NHW post-menopausal women not recently exposed to hormones.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 57, "end": 61}], "disease": [{"text": "weight gain", "start": 99, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Activation of c-Fos expression by hypoxia promotes the formation of c-Jun/c-Fos heterodimers, which decrease the binding of c-Jun to the CYP2J2 upstream region, leading to gene down-regulation.", "output": {"entities": {"gene": [{"text": "CYP2J2", "start": 137, "end": 143}], "disease": [{"text": "hypoxia", "start": 34, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "We investigated two Caucasian families with a typical autosomal dominant trait of familial central diabetes insipidus, defined by deficiency of arginine vasopressin.", "output": {"entities": {"gene": [{"text": "arginine vasopressin", "start": 144, "end": 164}], "disease": [{"text": "central diabetes insipidus", "start": 91, "end": 117}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "arginine vasopressin", "start": 144, "end": 164}, "tail": {"text": "central diabetes insipidus", "start": 91, "end": 117}}]}}, "schema": []}
{"input": "For rectal CT (68 infections detected), sensitivities were 27% for culture, 63% for SDA, and 93% for AC2.", "output": {"entities": {"gene": [{"text": "SDA", "start": 84, "end": 87}], "disease": [{"text": "infections", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.", "output": {"entities": {"gene": [{"text": "L1CAM", "start": 57, "end": 62}], "disease": [{"text": "X-linked hydrocephalus", "start": 0, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "L1CAM", "start": 57, "end": 62}, "tail": {"text": "X-linked hydrocephalus", "start": 0, "end": 22}}]}}, "schema": []}
{"input": "The presence of human leukocyte antigen-DR4 was associated with the concurrence of immunological diseases in both autoimmune (62% vs. 33%; p = 0. 01) and viral hepatitis (75% vs. 29%; p = 0. 009).", "output": {"entities": {"gene": [{"text": "DR4", "start": 40, "end": 43}], "disease": [{"text": "viral hepatitis", "start": 154, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "In 40 archival samples of SCC and in 21 samples of Barret' s metaplasia, expression of the three mucins and two TFF peptides (TFF1 and TFF2) was assessed by specific antibodies.", "output": {"entities": {"gene": [{"text": "TFF2", "start": 135, "end": 139}], "disease": [{"text": "metaplasia", "start": 61, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.", "output": {"entities": {"gene": [{"text": "EXTL", "start": 48, "end": 52}], "disease": [{"text": "multiple exostoses", "start": 76, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "The effect of INF-A on systolic blood pressure (SBP) was greater in FH-than in FH + but diastolic blood pressure (DBP) did not fall as quickly with nocturnal recumbency after INF-A in FH +.", "output": {"entities": {"gene": [{"text": "DBP", "start": 114, "end": 117}], "disease": [{"text": "systolic blood pressure", "start": 23, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "The hypothesis that puerperal affective psychosis (PAP) is genetically related to manic-depressive disorder was tested by comparing the morbidity risks for puerperal and non-puerperal affective disorders in the relatives of 17 PAP subjects and 20 parous manic-depressives (PMD) with no history of puerperal illness.", "output": {"entities": {"gene": [{"text": "PAP", "start": 51, "end": 54}], "disease": [{"text": "affective disorders", "start": 184, "end": 203}]}, "relations": {}}, "schema": []}
{"input": "The tgAAVCF administration was well tolerated, without adverse respiratory events, and there was no evidence of enhanced inflammation in sinus histopathology or alterations in serum-neutralizing antibody titer to adeno-associated virus (AAV) capsid protein after vector administration.", "output": {"entities": {"gene": [{"text": "AAV", "start": 6, "end": 9}], "disease": [{"text": "inflammation", "start": 121, "end": 133}]}, "relations": {}}, "schema": []}
{"input": "We detected a novel point mutation in the apo E gene in a patient with LPG, and we characterized the mutant apo E.", "output": {"entities": {"gene": [{"text": "apo E", "start": 42, "end": 47}], "disease": [{"text": "LPG", "start": 71, "end": 74}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "apo E", "start": 42, "end": 47}, "tail": {"text": "LPG", "start": 71, "end": 74}}]}}, "schema": []}
{"input": "The transforming growth factor beta (TGF-beta) pathway regulates vascular remodeling and mutations in its receptor genes, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysm (TAA).", "output": {"entities": {"gene": [{"text": "TGFBR1", "start": 122, "end": 128}], "disease": [{"text": "vascular remodeling", "start": 65, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Therefore, DJ-1 is an important redox-reactive signaling intermediate controlling oxidative stress after ischemia, upon neuroinflammation, and during age-related neurodegenerative processes.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 11, "end": 15}], "disease": [{"text": "ischemia", "start": 105, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "These observations support the view of HDAC2 as a promising new target for schizophrenia treatment.", "output": {"entities": {"gene": [{"text": "HDAC2", "start": 39, "end": 44}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HDAC2", "start": 39, "end": 44}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "In this study, we provide evidence that treatment with phorbol esters leads to increased phosphorylation of in vivo (32) P-labeled CEACAM1-L in mouse CT51 carcinoma cells, in the mouse 1MEA 7R. 1 liver carcinoma cells and in 293 human embryonic kidney cells transfected with the Ceacam1-L cDNA.", "output": {"entities": {"gene": [{"text": "CT51", "start": 150, "end": 154}], "disease": [{"text": "carcinoma", "start": 155, "end": 164}]}, "relations": {}}, "schema": []}
{"input": "Seven patients with a sporadic or syndromic EAP (n = 4: von Hippel-Lindau syndrome and SDHB, SDHC, and SDHD gene mutations) underwent reoperation for a local-regional recurrence after a median time of 46 months (interquartile range [IQR], 16-100).", "output": {"entities": {"gene": [{"text": "EAP", "start": 44, "end": 47}], "disease": [{"text": "sporadic", "start": 22, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "Our data demonstrate a regulatory role of NR4A1 in TGF-β signaling and fibrosis, providing the first proof of concept for targeting NR4A1 in fibrotic diseases.", "output": {"entities": {"gene": [{"text": "NR4A1", "start": 42, "end": 47}], "disease": [{"text": "fibrosis", "start": 71, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "In order to gain insight into the mechanism of SMC3-mediated tumorigenesis a gene expression profiling was performed on human 293 cells line stably overexpressing SMC3.", "output": {"entities": {"gene": [{"text": "SMC3", "start": 47, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 61, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "PSD-95", "start": 63, "end": 69}], "disease": [{"text": "major depression", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-95", "start": 63, "end": 69}, "tail": {"text": "major depression", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "Genetic polymorphisms of CCND1 and PTEN in progression of esophageal squamous carcinoma.", "output": {"entities": {"gene": [{"text": "CCND1", "start": 25, "end": 30}], "disease": [{"text": "esophageal", "start": 58, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "We also investigated whether statin use, a potent modulator of inflammation, modifies CXCL5' s association with outcomes and characterized the in vitro effect of atorvastatin on endothelial ENA-78 production.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 190, "end": 196}], "disease": [{"text": "inflammation", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Mutation analyses of SLC7A9 and SLC3A1 genes were performed on 41 cystinuria patients.", "output": {"entities": {"gene": [{"text": "SLC7A9", "start": 21, "end": 27}], "disease": [{"text": "cystinuria", "start": 66, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC7A9", "start": 21, "end": 27}, "tail": {"text": "cystinuria", "start": 66, "end": 76}}]}}, "schema": []}
{"input": "The patient presented with anemia, thrombocytopenia, and splenomegaly after 5 years of treatment with granulocyte colony-stimulating factor (G-CSF).", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 102, "end": 139}], "disease": [{"text": "splenomegaly", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "When joint effects of endotoxin exposure and smoking were considered, the effect modification of TNF and LTA polymorphisms was prominent in never smokers.", "output": {"entities": {"gene": [{"text": "LTA", "start": 105, "end": 108}], "disease": [{"text": "smoking", "start": 45, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "Moreover, a low expression level of NEFL mRNA indicated a poor five-year DFS for early-stage breast cancer patients.", "output": {"entities": {"gene": [{"text": "NEFL", "start": 36, "end": 40}], "disease": [{"text": "early-stage breast cancer", "start": 81, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "One of these patients had a variant translocation with a more 5' breakpoint in NUP98.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 79, "end": 84}], "disease": [{"text": "translocation", "start": 36, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "The results showed that inhibition of MTA1 mediated by Mta1-siRNA transfection decreased the cell invasion, migration and adhesion, and induced the increased cell anoikis, but no significant difference was found in proliferation of A2780 cancer cells.", "output": {"entities": {"gene": [{"text": "Mta1", "start": 55, "end": 59}], "disease": [{"text": "adhesion", "start": 122, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "The CDH1 3'-UTR + 54C/T SNP was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in 280 cervical cancer patients and 330 healthy controls.", "output": {"entities": {"gene": [{"text": "UTR", "start": 12, "end": 15}], "disease": [{"text": "cervical cancer", "start": 139, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Safety, disease activity measures (daily diary reports of rash, joint pain and/or swelling, and fevers), health quality measures (Short Form 36 health survey questionnaire), and serum markers of inflammation (erythrocyte sedimentation rate [ESR], high-sensitivity C-reactive protein [hsCRP], serum amyloid A [SAA], and IL-6) were determined at 3, 6, 9, 12, and 24 months after initiation of rilonacept and were compared with baseline values.", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 264, "end": 282}], "disease": [{"text": "rash", "start": 58, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "TLR2 ligands activated NF-κB, PI3K/Akt, and different arms of MAPK signaling pathways and induced the production of pro-inflammatory cytokines in hepatocytes.", "output": {"entities": {"gene": [{"text": "NF-κB", "start": 23, "end": 28}], "disease": [{"text": "arms", "start": 54, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Ca (2 +) release from intracellular stores was significantly reduced in fibroblasts from FAD patients, compared to that found in cells from healthy individuals or patients affected by sporadic forms of Alzheimer' s Disease (AD).", "output": {"entities": {"gene": [{"text": "FAD", "start": 89, "end": 92}], "disease": [{"text": "sporadic", "start": 184, "end": 192}]}, "relations": {}}, "schema": []}
{"input": "ISC genes bmi-1 and olfm4 are expressed at subnormal levels in plt4/plt4 mice, and bmi-1 is induced with IR to half the level in mutant mice.", "output": {"entities": {"gene": [{"text": "olfm4", "start": 20, "end": 25}], "disease": [{"text": "bmi", "start": 10, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "Relationship between AZGP1 expression and clinicopathological features was analyzed by Chi-square test, Kaplan-Meier analysis and Cox proportional hazards regression model.", "output": {"entities": {"gene": [{"text": "AZGP1", "start": 21, "end": 26}], "disease": [{"text": "regression", "start": 155, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We have investigated the association of two candidate genes on chromosome 14, presenilin 1 (PS1) and alpha1-antichymotrypsin (ACT), with the risk of sporadic Alzheimer' s disease (AD) by using 427 AD cases and 250 controls.", "output": {"entities": {"gene": [{"text": "ACT", "start": 126, "end": 129}], "disease": [{"text": "sporadic", "start": 149, "end": 157}]}, "relations": {}}, "schema": []}
{"input": "The fellow eye, which had remained asymptomatic at 20/16 vision, had experienced mild paracentral macular RS evident by OCT criteria, which also resolved completely following oral CAI treatment.", "output": {"entities": {"gene": [{"text": "OCT", "start": 120, "end": 123}], "disease": [{"text": "asymptomatic", "start": 35, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Linkage analysis using both parametric and nonparametric approaches was conducted for 3 different diagnostic models: severe BP only (BPI); mood disorders (BPI, BPII and major depression); and psychosis (operationally defined by the occurrence of at least 1 episode of hallucinations and/or delusions).", "output": {"entities": {"gene": [{"text": "BPI", "start": 133, "end": 136}], "disease": [{"text": "major depression", "start": 169, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In rats with PAN nephropathy, administration of rhIGF-I increased IGF-I and GH receptor gene expression, without altering the steady state level of IGF-I receptor mRNA.", "output": {"entities": {"gene": [{"text": "IGF-I", "start": 50, "end": 55}], "disease": [{"text": "nephropathy", "start": 17, "end": 28}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IGF-I", "start": 50, "end": 55}, "tail": {"text": "nephropathy", "start": 17, "end": 28}}]}}, "schema": []}
{"input": "Phosphomannopentaose sulfate (PI-88) suppresses angiogenesis by downregulating heparanase and vascular endothelial growth factor in an oxygen-induced retinal neovascularization animal model.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 79, "end": 89}], "disease": [{"text": "retinal neovascularization", "start": 150, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation.", "output": {"entities": {"gene": [{"text": "LQT3", "start": 120, "end": 124}], "disease": [{"text": "SIDS", "start": 94, "end": 98}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LQT3", "start": 120, "end": 124}, "tail": {"text": "SIDS", "start": 94, "end": 98}}]}}, "schema": []}
{"input": "In addition, these studies demonstrate that the patterns of DNase I hypersensitivity and of methylation can remain intact during a 40-50-fold gene amplification, as observed for the c-myc gene in H82.", "output": {"entities": {"gene": [{"text": "myc gene", "start": 184, "end": 192}], "disease": [{"text": "hypersensitivity", "start": 68, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The Glu318Gly mutation was identified in six sporadic late-onset AD patients, four FAD patients (unrelated) and in nine control subjects.", "output": {"entities": {"gene": [{"text": "FAD", "start": 83, "end": 86}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Four different probes from the 1p36 region, the E2F2, NPPA, D1S160, and CDC2L1 loci were used for detection of 1p abnormalities.", "output": {"entities": {"gene": [{"text": "NPPA", "start": 54, "end": 58}], "disease": [{"text": "abnormalities", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "They included ganglioside GD2, a marker of neuroectodermal tissues and tumors, and an acidic glycolipid detected by monoclonal antibody HNK-1 in the nervous system.", "output": {"entities": {"gene": [{"text": "HNK-1", "start": 136, "end": 141}], "disease": [{"text": "nervous system", "start": 149, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "Three HLA-DP SNPs (rs4282438, rs3117027, and rs3077) were found to be significantly associated with risk of cervical cancer (rs4282438: odds ratio (OR) = 0. 72, 95% confidence interval (CI) = 0. 56-0. 93; rs3117027: OR = 1. 41, 95% CI = 1. 10-1. 83; and rs3077: OR = 1. 37, 95% CI = 1. 04-1. 80) among women infected with hrHPV.", "output": {"entities": {"gene": [{"text": "HLA-DP", "start": 6, "end": 12}], "disease": [{"text": "cervical cancer", "start": 108, "end": 123}]}, "relations": {}}, "schema": []}
{"input": "These dada indicated that oncolytic adenovirus to target both of TERT and RB pathways provided a safe and potent vector for the gene therapy of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 144, "end": 147}], "disease": [{"text": "adenovirus", "start": 36, "end": 46}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: MR-1 mRNA and protein could be detected in gastric cancer tissues as well as in matched noncancerous tissues.", "output": {"entities": {"gene": [{"text": "MR-1", "start": 9, "end": 13}], "disease": [{"text": "gastric cancer", "start": 52, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The transcription factor NF-kappaB was present in proliferating endometrium and in endometrial hyperplasia, but its expression was lower in carcinoma.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 25, "end": 34}], "disease": [{"text": "endometrial hyperplasia", "start": 83, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "RESULTS: IMQ induced p53 mRNA expression and protein accumulation, increased Ser15 phosphorylation, promoted nuclear translocation and up-regulated its target genes in skin cancer cells in a TLR7/8-independent manner.", "output": {"entities": {"gene": [{"text": "TLR7", "start": 191, "end": 195}], "disease": [{"text": "skin cancer", "start": 168, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "Sensory CGRP depletion by capsaicin exacerbated hypoxia-induced pulmonary hypertension in rats, as shown by an increase in right ventricle systolic pressure, mean pulmonary artery pressure and vascular hypertrophy, accompanied with decreased p27 expression and increased expression of phosphorylated ERK1/2, c-fos and c-myc.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 300, "end": 304}], "disease": [{"text": "pulmonary hypertension", "start": 64, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of OCRL1 inhibited interleukin-1β-induced Rac1 activity, chondrocyte hypertrophy, and expression of hypertrophy-related genes.", "output": {"entities": {"gene": [{"text": "Rac1", "start": 57, "end": 61}], "disease": [{"text": "hypertrophy", "start": 84, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Long Noncoding RNA (lncRNA) MIR22HG Suppresses Gastric Cancer Progression through Attenuating NOTCH2 Signaling.", "output": {"entities": {"gene": [{"text": "NOTCH2", "start": 94, "end": 100}], "disease": [{"text": "Gastric Cancer", "start": 47, "end": 61}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NOTCH2", "start": 94, "end": 100}, "tail": {"text": "Gastric Cancer", "start": 47, "end": 61}}]}}, "schema": []}
{"input": "The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date.", "output": {"entities": {"gene": [{"text": "BMPR1A", "start": 36, "end": 42}], "disease": [{"text": "JPS", "start": 76, "end": 79}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BMPR1A", "start": 36, "end": 42}, "tail": {"text": "JPS", "start": 76, "end": 79}}]}}, "schema": []}
{"input": "Furthermore, inhibition of the transporters and mTORC1 significantly blocks YAP1/TAZ-mediated tumorigenesis in the liver.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 81, "end": 84}], "disease": [{"text": "tumorigenesis", "start": 94, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Our findings confirm the role of EGFR in AngII mediated cardiac hypertrophy, and highlight that EGFR is not involved in vivo in the damaging effects of aldosterone on cardiac function and remodelling.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 33, "end": 37}], "disease": [{"text": "cardiac hypertrophy", "start": 56, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "Craniofrontonasal syndrome (CFNS; MIM #304110) is characterized by asymmetric facial features with hypertelorism and a broad bifid nose due to synostosis of the coronal suture.", "output": {"entities": {"gene": [{"text": "MIM", "start": 34, "end": 37}], "disease": [{"text": "bifid nose", "start": 125, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Six single-nucleotide polymorphisms (SNPs) that tagged the linkage disequilibrium blocks on the entire SFTPD gene were genotyped; the associations of the genotypes with COPD, pulmonary function, percentage of the low-attenuation area (LAA%), and percentage of the airway wall area (WA%) were determined in population A.", "output": {"entities": {"gene": [{"text": "SFTPD gene", "start": 103, "end": 113}], "disease": [{"text": "pulmonary function", "start": 175, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "Indeed, COP1 deficiency in mouse prostate elevated ETV1 and produced increased cell proliferation, hyperplasia, and early prostate intraepithelial neoplasia.", "output": {"entities": {"gene": [{"text": "COP1", "start": 8, "end": 12}], "disease": [{"text": "intraepithelial neoplasia", "start": 131, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "In the current study, simulating ischemia (sI) in a primary cardiac myocyte model system caused a reduction in the level of ER-associated ATF6 with a coordinate increase of ATF6 in nuclear fractions.", "output": {"entities": {"gene": [{"text": "ATF6", "start": 138, "end": 142}], "disease": [{"text": "ischemia", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, cooperation between OTT-MAL and an activating mutation of the thrombopoietin receptor myeloproliferative leukemia virus oncogene (MPL) efficiently induced a short-latency AMKL that recapitulated all the features of human AMKL, including megakaryoblast hyperproliferation and maturation block, thrombocytopenia, organomegaly, and extensive fibrosis.", "output": {"entities": {"gene": [{"text": "MPL", "start": 143, "end": 146}], "disease": [{"text": "fibrosis", "start": 352, "end": 360}]}, "relations": {}}, "schema": []}
{"input": "We report that MeCP2 interacts with ATRX, a SWI2/SNF2 DNA helicase/ATPase that is mutated in ATRX syndrome (alpha-thalassemia/mental retardation, X-linked).", "output": {"entities": {"gene": [{"text": "MeCP2", "start": 15, "end": 20}], "disease": [{"text": "alpha-thalassemia", "start": 108, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Conversely, adenovirally-mediated overexpression of NAIP or the X-linked IAP called XIAP reduces the loss of CA1 hippocampal neurons following transient forebrain ischemia.", "output": {"entities": {"gene": [{"text": "NAIP", "start": 52, "end": 56}], "disease": [{"text": "ischemia", "start": 163, "end": 171}]}, "relations": {}}, "schema": []}
{"input": "Paternal night-time systolic blood pressure, night to day systolic blood pressure ratio and ACR were correlated with an index of susceptibility to albuminuria (r = 0. 25, P = 0. 042, n = 69 and r = 0. 28, P = 0. 022, n = 0. 67 and r = 0. 24, P = 0. 029, n = 0. 85, respectively).", "output": {"entities": {"gene": [{"text": "ACR", "start": 92, "end": 95}], "disease": [{"text": "systolic blood pressure", "start": 20, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated the effects of manipulation of the HO-1 system in an in vivo model of focal ischemia-reperfusion (FIR) in the rat heart.", "output": {"entities": {"gene": [{"text": "FIR", "start": 129, "end": 132}], "disease": [{"text": "ischemia", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Human gastrin-releasing peptide receptor mediates sustained CREB phosphorylation and transactivation in HuTu 80 duodenal cancer cells.", "output": {"entities": {"gene": [{"text": "CREB", "start": 60, "end": 64}], "disease": [{"text": "duodenal cancer", "start": 112, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "The vector expressing FGF-2 and BDNF decreased both mossy fiber sprouting and the frequency and severity of spontaneous seizures.", "output": {"entities": {"gene": [{"text": "FGF-2", "start": 22, "end": 27}], "disease": [{"text": "seizures", "start": 120, "end": 128}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "FGF-2", "start": 22, "end": 27}, "tail": {"text": "seizures", "start": 120, "end": 128}}]}}, "schema": []}
{"input": "C127, a murine mammary tumor-derived cell line, is capable of lipidating and secreting apolipoprotein B-41 (apoB-41) in the apparent absence of microsomal triglyceride transfer protein (MTP).", "output": {"entities": {"gene": [{"text": "MTP", "start": 186, "end": 189}], "disease": [{"text": "mammary tumor", "start": 15, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Fifty percent of sporadic tumours compared to 78% of BRCA2 linked tumours exhibit LOH at one or more markers at 8p showing that chromosome 8p alterations in breast tumours from BRCA2 999del5 carriers are more pronounced than in sporadic breast tumours.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 53, "end": 58}], "disease": [{"text": "sporadic", "start": 17, "end": 25}]}, "relations": {}}, "schema": []}
{"input": "In subcutaneous adipose tissue, DAGL-α mRNA was upregulated and fatty acid amide hydrolase (FAAH) and monoacylglycerol lipase (MAGL) mRNAs were down-regulated in obese subjects, but the diets had no influence.", "output": {"entities": {"gene": [{"text": "DAGL-α", "start": 32, "end": 38}], "disease": [{"text": "obese", "start": 162, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "The facilitation of these deleterious events resulted in exacerbated β-amyloid accumulation, plaque pathology and CREB dysfunction in 5XFAD mice with GCN2 mutations.", "output": {"entities": {"gene": [{"text": "CREB", "start": 114, "end": 118}], "disease": [{"text": "amyloid", "start": 71, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We report the identification of a UV (S) S patient (UV (S) S1VI) with a novel mutation in the CSA gene (p. trp361cys) that confers hypersensitivity to UV light, but not to inducers of oxidative damage that are notably cytotoxic in cells from CS patients.", "output": {"entities": {"gene": [{"text": "CSA", "start": 94, "end": 97}], "disease": [{"text": "UV (S) S", "start": 34, "end": 42}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CSA", "start": 94, "end": 97}, "tail": {"text": "UV (S) S", "start": 34, "end": 42}}]}}, "schema": []}
{"input": "The reduction in diastolic blood pressure was also significantly greater in DD hypertensives compared with II or ID (8. 9 +/-6 vs. 5. 5 +/-3. 4 or 5. 8 +/-4, respectively; ANOVA, p < 0. 05).", "output": {"entities": {"gene": [{"text": "ANOVA", "start": 172, "end": 177}], "disease": [{"text": "diastolic blood pressure", "start": 17, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Ewing' s sarcoma, a highly malignant neoplasm, is characterized by an 11; 22 translocation [t (11; 22) (q24; q12)], resulting in the fusion of genes FLII and EWS.", "output": {"entities": {"gene": [{"text": "EWS", "start": 158, "end": 161}], "disease": [{"text": "translocation", "start": 77, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Importantly, hypoxia regulated expression of alarmin receptors such as the receptor for advanced glycation end products (RAGE) and the purinoreceptor (P2X7R), and up-regulated inflammatory response (IR) genes such as the inducible enzymes nitric oxide synthase (NOS2), cycloxygenase (COX2), and the acute-phase protein pentraxin-3 (PTX3).", "output": {"entities": {"gene": [{"text": "RAGE", "start": 121, "end": 125}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis in 57 unrelated patients with MPS II (Hunter' s disease).", "output": {"entities": {"gene": [{"text": "MPS II", "start": 48, "end": 54}], "disease": [{"text": "Hunter' s disease", "start": 56, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPS II", "start": 48, "end": 54}, "tail": {"text": "Hunter' s disease", "start": 56, "end": 73}}]}}, "schema": []}
{"input": "ETRA autoantibodies aggravated right ventricular hypertrophy and vascular remodeling in vivo.", "output": {"entities": {"gene": [{"text": "ETRA", "start": 0, "end": 4}], "disease": [{"text": "vascular remodeling", "start": 65, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "BW373U86, a delta-opioid receptor agonist, reverses bradykinin-induced thermal allodynia in rhesus monkeys.", "output": {"entities": {"gene": [{"text": "bradykinin", "start": 52, "end": 62}], "disease": [{"text": "thermal allodynia", "start": 71, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "bradykinin", "start": 52, "end": 62}, "tail": {"text": "thermal allodynia", "start": 71, "end": 88}}]}}, "schema": []}
{"input": "Studies on loss of function and overexpression implicate PINK1 in apoptosis, abnormal mitochondrial morphology, impaired dopamine release and motor deficits.", "output": {"entities": {"gene": [{"text": "PINK1", "start": 57, "end": 62}], "disease": [{"text": "abnormal mitochondrial morphology", "start": 77, "end": 110}]}, "relations": {}}, "schema": []}
{"input": "Additionally, flagellin-mediated induction of other inflammation markers, including il1b, il8, and cxcl-C1c, was reduced upon Tlr5 knockdown as well as expression of irak3, a putative negative TLR pathway regulator.", "output": {"entities": {"gene": [{"text": "irak3", "start": 166, "end": 171}], "disease": [{"text": "inflammation", "start": 52, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "In this cohort of biopsied CHB patients, PNPLA3 was independently associated with steatosis, steatohepatitis, lobular inflammation and iron depositions, but not with advanced fibrosis, HCC development or all-cause mortality.", "output": {"entities": {"gene": [{"text": "HCC", "start": 185, "end": 188}], "disease": [{"text": "fibrosis", "start": 175, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Nox1 and Nox4 mRNA and protein levels also were markedly elevated in a panel of primary human colon cancers, compared with their matched controls.", "output": {"entities": {"gene": [{"text": "Nox4", "start": 9, "end": 13}], "disease": [{"text": "colon cancers", "start": 94, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Nox4", "start": 9, "end": 13}, "tail": {"text": "colon cancers", "start": 94, "end": 107}}]}}, "schema": []}
{"input": "Together, this study proposes the existence of an aberrant IL-6/STAT3/Fra-1 signaling axis leading to CRC aggressiveness through EMT induction, which suggests novel therapeutic opportunities for the malignant disease.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 59, "end": 63}], "disease": [{"text": "aggressiveness", "start": 106, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "A number of genetic and epigenetic alterations have been identified in bladder tumorigenesis, including activating mutations in fibroblast growth factor receptor 3 (FGFR3) and RAS family genes.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 165, "end": 170}], "disease": [{"text": "tumorigenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The beta-endoglucuronidase heparanase plays an important role in tumor invasion, a process that is significantly enhanced by hypoxia.", "output": {"entities": {"gene": [{"text": "heparanase", "start": 27, "end": 37}], "disease": [{"text": "hypoxia", "start": 125, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "As matrix metalloproteinases (MMP) play a central role in the regulation of the ECM, an increased expression of these enzymes might lead to the endothelial damage in spontaneous cervical artery dissection (sCAD).", "output": {"entities": {"gene": [{"text": "ECM", "start": 80, "end": 83}], "disease": [{"text": "artery dissection", "start": 187, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "We reported previously that COX2 expression in MCF10A breast epithelial cells of basal subtype induces genomic instability.", "output": {"entities": {"gene": [{"text": "COX2", "start": 28, "end": 32}], "disease": [{"text": "genomic instability", "start": 103, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "We further demonstrate that CD40 triggering induced both DNA DSBs as well as newly acquired karyotypic abnormalities in MM cell lines.", "output": {"entities": {"gene": [{"text": "CD40", "start": 28, "end": 32}], "disease": [{"text": "abnormalities", "start": 103, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "We observed that the frequency of CCR7-expressing TH1/TH17 effector lymphocytes increased during active disease in TNF (Δ) (ARE) mice and that ΔARE/CCR7 (-/-) mice developed exacerbated ileitis and multiorgan inflammation, with a marked polarization and ileal retention of TH1 effector CD4 (+) T cells.", "output": {"entities": {"gene": [{"text": "TH1", "start": 50, "end": 53}], "disease": [{"text": "inflammation", "start": 209, "end": 221}]}, "relations": {}}, "schema": []}
{"input": "Phenotypic linkage between single-nucleotide polymorphisms of beta3-adrenergic receptor gene and NADH dehydrogenase subunit-2 gene, with special reference to eating behavior.", "output": {"entities": {"gene": [{"text": "beta3", "start": 62, "end": 67}], "disease": [{"text": "eating behavior", "start": 158, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "This study investigated whether variations in the IL19, IL20 and IL24 genes that have previously been associated with plaque-type psoriasis may also play a role in palmoplantar pustulosis (PPP).", "output": {"entities": {"gene": [{"text": "IL20", "start": 56, "end": 60}], "disease": [{"text": "plaque", "start": 118, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "Previously, we have shown in a small number of AD and control patients that HNE pyrrole adduct antiserum is immunoreactive with neurofibrillary tangles (NFT), and that this reactivity was significantly associated with inheritance of APOE4.", "output": {"entities": {"gene": [{"text": "HNE", "start": 76, "end": 79}], "disease": [{"text": "neurofibrillary tangles", "start": 128, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "It is known that hypoxic conditions in tumorous tissues induce the formation of reactive oxygen species (ROS), and ROS have been identified as important factor in the regulation of Ets-1 expression in tumor cells.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 181, "end": 186}], "disease": [{"text": "hypoxic", "start": 17, "end": 24}]}, "relations": {}}, "schema": []}
{"input": "The relationship between weight reduction after sibutramine treatment and a single nucleotide polymorphism, rs5443 (C825T), in the guanine nucleotide binding protein beta polypeptide 3 (GNB3) gene is currently inconsistent.", "output": {"entities": {"gene": [{"text": "GNB3", "start": 186, "end": 190}], "disease": [{"text": "weight reduction", "start": 25, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "The current study tested whether two important forms of disinhibition in adolescence, impulsivity and sensation seeking, mediated the effects of GABRA2 on hyperactive-inattentive symptoms, conduct problems, and alcohol problems.", "output": {"entities": {"gene": [{"text": "GABRA2", "start": 145, "end": 151}], "disease": [{"text": "inattentive", "start": 167, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Telephone interviews were conducted with mothers of 662 CLP and CP cases, 207 conotruncal defect cases, 165 limb deficiency cases, and 734 nonmalformed controls.", "output": {"entities": {"gene": [{"text": "CLP", "start": 56, "end": 59}], "disease": [{"text": "conotruncal defect", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "In animal models of stroke, sulfonylurea receptor 1 (Sur1), a member of the adenosine triphosphate binding cassette transporter gene family, is transcriptionally upregulated in neural and vascular cells in which it plays a leading role in edema formation and necrotic cell death.", "output": {"entities": {"gene": [{"text": "Sur1", "start": 53, "end": 57}], "disease": [{"text": "edema", "start": 239, "end": 244}]}, "relations": {}}, "schema": []}
{"input": "Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer.", "output": {"entities": {"gene": [{"text": "LEF1", "start": 62, "end": 66}], "disease": [{"text": "breast cancer", "start": 92, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "LEF1", "start": 62, "end": 66}, "tail": {"text": "breast cancer", "start": 92, "end": 105}}]}}, "schema": []}
{"input": "IHC studies on human kidneys showed that SCAI expression is reduced during fibrosis.", "output": {"entities": {"gene": [{"text": "SCAI", "start": 41, "end": 45}], "disease": [{"text": "fibrosis", "start": 75, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Changes in CRH and ACTH synthesis during experimental and human septic shock.", "output": {"entities": {"gene": [{"text": "ACTH", "start": 19, "end": 23}], "disease": [{"text": "septic shock", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In this study we investigated the association between these polymorphisms and time to recurrence (TTR) and overall survival (OS) in soft-tissue sarcoma (STS) patients after curative surgery.", "output": {"entities": {"gene": [{"text": "TTR", "start": 98, "end": 101}], "disease": [{"text": "sarcoma", "start": 144, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "Analysis of gene expression profiles revealed an abnormal expression of genes involved in the metabolism of lipids and carbohydrates in MAT1A knockout mice, a situation that is reminiscent of that found in diabetes, obesity, and other conditions associated with nonalcoholic steatohepatitis.", "output": {"entities": {"gene": [{"text": "MAT1A", "start": 136, "end": 141}], "disease": [{"text": "obesity", "start": 216, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Anti-inflammation treatment restored p21 expression, delayed tumorigenesis, and increased survival of Tgfbr2 (fspKO) mice.", "output": {"entities": {"gene": [{"text": "Tgfbr2", "start": 102, "end": 108}], "disease": [{"text": "inflammation", "start": 5, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "Through GWAS, we identified common variants in APOA5, GCKR, LPL and APOB associated with HTG.", "output": {"entities": {"gene": [{"text": "LPL", "start": 60, "end": 63}], "disease": [{"text": "HTG", "start": 89, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "LPL", "start": 60, "end": 63}, "tail": {"text": "HTG", "start": 89, "end": 92}}]}}, "schema": []}
{"input": "A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.", "output": {"entities": {"gene": [{"text": "beta-galactosidase", "start": 80, "end": 98}], "disease": [{"text": "infantile GM1-gangliosidosis", "start": 113, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "beta-galactosidase", "start": 80, "end": 98}, "tail": {"text": "infantile GM1-gangliosidosis", "start": 113, "end": 141}}]}}, "schema": []}
{"input": "Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with intellectual disability and epilepsy, revealing bi-allelic GOT2 mutations.", "output": {"entities": {"gene": [{"text": "GOT2", "start": 175, "end": 179}], "disease": [{"text": "intellectual disability", "start": 116, "end": 139}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GOT2", "start": 175, "end": 179}, "tail": {"text": "intellectual disability", "start": 116, "end": 139}}]}}, "schema": []}
{"input": "In addition, CHK overexpression in neuroblastoma and astrocytoma cells inhibited their growth and proliferation.", "output": {"entities": {"gene": [{"text": "CHK", "start": 13, "end": 16}], "disease": [{"text": "astrocytoma", "start": 53, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "This study reveals the potential role of PTPRO methylation and silencing in CLL tumorigenesis and also provides a novel molecular target in the epigenetic therapy.", "output": {"entities": {"gene": [{"text": "PTPRO", "start": 41, "end": 46}], "disease": [{"text": "tumorigenesis", "start": 80, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that Notch3 or GOM accumulation are unlikely to be the prerequisites for the induction of VSMC degeneration and suggest that degeneration of VSMCs may rather be triggered by the disruption of their normal anchorage, based on the important role of adhesion for cell survival.", "output": {"entities": {"gene": [{"text": "Notch3", "start": 26, "end": 32}], "disease": [{"text": "adhesion", "start": 268, "end": 276}]}, "relations": {}}, "schema": []}
{"input": "Samples immunoprecipitated for Sp1 and probed for subsequent phosphorylation showed a significant increase in nuclear alpha-p-threonine-modified Sp1 at 2 and 6 hours after sepsis (P <. 001 vs saline).", "output": {"entities": {"gene": [{"text": "Sp1", "start": 31, "end": 34}], "disease": [{"text": "sepsis", "start": 172, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Participants were classified with ISH (n = 87, systolic blood pressure (SBP) > or = 160 mm Hg and diastolic blood pressure (DBP) < or = 90 mm Hg) or normotension (n = 124, SBP < 140 mm Hg and DBP < 90 mm Hg with no family history of hypertension).", "output": {"entities": {"gene": [{"text": "DBP", "start": 124, "end": 127}], "disease": [{"text": "systolic blood pressure", "start": 47, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Elite suppressors (ES) are untreated human immunodeficiency virus type 1 (HIV-1)-infected individuals who maintain normal CD4 (+) T-cell counts and control viremia to levels that are below the limit of detection of current assays.", "output": {"entities": {"gene": [{"text": "CD4", "start": 122, "end": 125}], "disease": [{"text": "viremia", "start": 156, "end": 163}]}, "relations": {}}, "schema": []}
{"input": "CBFA2T3, CTCF and WWOX) but no inactivating mutations could be identified in these genes and they thus fail to fit the classic two-hit model for a TSG.", "output": {"entities": {"gene": [{"text": "TSG", "start": 147, "end": 150}], "disease": [{"text": "hit", "start": 131, "end": 134}]}, "relations": {}}, "schema": []}
{"input": "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.", "output": {"entities": {"gene": [{"text": "p34", "start": 56, "end": 59}], "disease": [{"text": "muscle-eye-brain disease", "start": 18, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "By immunohistochemistry, overexpression of UHRF1 protein was found in 78. 3% (47/60) of the LSCC tissues, while there was negative expression in adjacent normal larynx tissues.", "output": {"entities": {"gene": [{"text": "UHRF1", "start": 43, "end": 48}], "disease": [{"text": "larynx", "start": 161, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "RRM1, the regulatory subunit of ribonucleotide reductase, is involved in carcinogenesis, tumor progression, and the response of non-small-cell lung cancer to treatment.", "output": {"entities": {"gene": [{"text": "RRM1", "start": 0, "end": 4}], "disease": [{"text": "tumor progression", "start": 89, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In contrast, data from MIB 1 immunostaining showed that < 0. 3% of leiomyoma cells were proliferating.", "output": {"entities": {"gene": [{"text": "MIB", "start": 23, "end": 26}], "disease": [{"text": "leiomyoma", "start": 67, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "In humans, several single nucleotide polymorphisms in the IL-6 gene promoter are known, one of which (174 C) is associated with reduced IL-6 transcription as well as decreased basal metabolic rate and insulin sensitivity in healthy male subjects.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 58, "end": 62}], "disease": [{"text": "insulin sensitivity", "start": 201, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Hepatic insulin sensitivity was enhanced in PGC-1-deficient mice, reflecting in part the reduced expression of the mammalian tribbles homolog TRB-3, a fasting-inducible inhibitor of the serine-threonine kinase Akt/PKB (ref.", "output": {"entities": {"gene": [{"text": "TRB", "start": 142, "end": 145}], "disease": [{"text": "insulin sensitivity", "start": 8, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "These results do not support a relationship between the OMGP gene and the learning disability phenotype observed in NF1.", "output": {"entities": {"gene": [{"text": "OMGP", "start": 56, "end": 60}], "disease": [{"text": "learning disability", "start": 74, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "We examine three CMT1C-associated SIMPLE mutations and show that they do not affect the interaction with NEDD4 or TSG101, nor do they lead to altered subcellular localization.", "output": {"entities": {"gene": [{"text": "SIMPLE", "start": 34, "end": 40}], "disease": [{"text": "CMT1C", "start": 17, "end": 22}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SIMPLE", "start": 34, "end": 40}, "tail": {"text": "CMT1C", "start": 17, "end": 22}}]}}, "schema": []}
{"input": "In addition, equivalent amounts of immunoreactive ADD1/SREBP1 were found in nuclear extracts from lean and obese rat fat cells.", "output": {"entities": {"gene": [{"text": "ADD1", "start": 50, "end": 54}], "disease": [{"text": "obese", "start": 107, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, several recent genetic case-control studies have documented an association between common missense variations in the VMAT1 gene and susceptibility to bipolar disorder and schizophrenia.", "output": {"entities": {"gene": [{"text": "VMAT1", "start": 130, "end": 135}], "disease": [{"text": "bipolar disorder", "start": 163, "end": 179}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "VMAT1", "start": 130, "end": 135}, "tail": {"text": "bipolar disorder", "start": 163, "end": 179}}]}}, "schema": []}
{"input": "In this study, association analyses were re-examined between the polymorphisms of the promoter region of the CCKAR gene and patients with alcohol withdrawal symptoms, in addition to patients with alcoholic liver injury.", "output": {"entities": {"gene": [{"text": "CCKAR gene", "start": 109, "end": 119}], "disease": [{"text": "withdrawal symptoms", "start": 146, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We investigated the association of severe malaria with 11 haplotype tagging-polymorphisms for 11 MHC class III candidate genes, including TNF, lymphotoxin alpha (LTA), allograft inflammatory factor 1 (AIF1), and HLA-B associated transcript 2 (BAT2).", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 212, "end": 217}], "disease": [{"text": "severe malaria", "start": 35, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "This study investigated whether down-regulation of MTA1 expression by RNAi in A2780 ovarian cancer cells could affect proliferation, anoikis, migration, invasion and adhesion of the cells and to research the potential for MTA1 gene therapy of ovarian cancer.", "output": {"entities": {"gene": [{"text": "MTA1 gene", "start": 222, "end": 231}], "disease": [{"text": "adhesion", "start": 166, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We report that mutations in either MMP9 or MMP13 are responsible for the human disease metaphyseal anadysplasia (MAD), a heterogeneous group of disorders for which a milder recessive variant and a more severe dominant variant are known.", "output": {"entities": {"gene": [{"text": "MMP13", "start": 43, "end": 48}], "disease": [{"text": "metaphyseal anadysplasia", "start": 87, "end": 111}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MMP13", "start": 43, "end": 48}, "tail": {"text": "metaphyseal anadysplasia", "start": 87, "end": 111}}]}}, "schema": []}
{"input": "In contrast, serum SHBG values were negatively associated with body mass index (BMI) and homeostasis model assessment of insulin resistance in the PCOS group (B =-0. 285 and-0. 264, respectively; P < 0. 01).", "output": {"entities": {"gene": [{"text": "SHBG", "start": 19, "end": 23}], "disease": [{"text": "insulin resistance", "start": 121, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "The histology of breast cancers in predisposed women differs from that in sporadic cases, and there are differences between breast cancers in carriers of BRCA1 and BRCA2 mutations.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 164, "end": 169}], "disease": [{"text": "sporadic", "start": 74, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "γδ T-cell large granular lymphocytic (T-LGL) leukemia of the CD4-/CD8-subtype is rare, and data are limited in the literature.", "output": {"entities": {"gene": [{"text": "CD4", "start": 61, "end": 64}], "disease": [{"text": "leukemia", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exotropia and movement disorders.", "output": {"entities": {"gene": [{"text": "SPG35", "start": 5, "end": 10}], "disease": [{"text": "cognitive deficits", "start": 165, "end": 183}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SPG35", "start": 5, "end": 10}, "tail": {"text": "cognitive deficits", "start": 165, "end": 183}}]}}, "schema": []}
{"input": "Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD).", "output": {"entities": {"gene": [{"text": "transmembrane protein 2", "start": 50, "end": 73}], "disease": [{"text": "choreoathetosis", "start": 215, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "We studied 61 patients with asthma and/or atopy and 129 to 157 newborn controls for the-403 RANTES,-28 RANTES, and-1055 IL-13 SNPs, as well as 47 patients and 60 newborn controls for the-444 LTC4S SNP.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 92, "end": 98}], "disease": [{"text": "atopy", "start": 42, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Therefore, this postmortem study identifies GC1, GRINA, and NRP-1 as novel factors associated with MDD; however, future studies will be needed to address the significance of these genes in the pathophysiology of depression and antidepressant activity.", "output": {"entities": {"gene": [{"text": "NRP-1", "start": 60, "end": 65}], "disease": [{"text": "MDD", "start": 99, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NRP-1", "start": 60, "end": 65}, "tail": {"text": "MDD", "start": 99, "end": 102}}]}}, "schema": []}
{"input": "We have identified a pair of siblings with RMS attributable to compound heterozygosity for two insulin receptor mutations, one previously unreported, and have characterized the novel receptor mutation functionally.", "output": {"entities": {"gene": [{"text": "insulin receptor", "start": 95, "end": 111}], "disease": [{"text": "RMS", "start": 43, "end": 46}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "insulin receptor", "start": 95, "end": 111}, "tail": {"text": "RMS", "start": 43, "end": 46}}]}}, "schema": []}
{"input": "Significant obesity associations (p < 0. 1 two-tailed, concordant direction with previous reports) were replicated for 11 SNPs from the following ten loci in Japanese participants: SEC16B, TMEM18, GNPDA2, BDNF, MTCH2, BCDIN3D-FAIM2, SH2B1-ATP2A1, FTO, MC4R and KCTD15.", "output": {"entities": {"gene": [{"text": "BCDIN3D", "start": 218, "end": 225}], "disease": [{"text": "obesity", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "We tested whether methylation profiles generated by real-time methylation-specific PCR (MSP) can be useful in differentiating benign, reactive mesothelial cell proliferation (RM) from malignant mesothelioma (MM).", "output": {"entities": {"gene": [{"text": "MSP", "start": 88, "end": 91}], "disease": [{"text": "mesothelioma", "start": 194, "end": 206}]}, "relations": {}}, "schema": []}
{"input": "SPARC levels are correlated significantly with inflammation and may also be correlated with dyslipidemia and represent an independent determinant of insulin resistance in late pregnancy, indicating a potential role of SPARC in the pathophysiology of GDM.", "output": {"entities": {"gene": [{"text": "SPARC", "start": 0, "end": 5}], "disease": [{"text": "insulin resistance", "start": 149, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "E2 induced reporter gene activity in MDA-MB-231 breast cancer cells transiently cotransfected with pF1 and wild-type ER or variant ER in which the DNA-binding domain was deleted (HE11); plasmids expressing N-terminal or C-terminal domains of the ER containing activator function-1 or-2, respectively, were inactive in these assays.", "output": {"entities": {"gene": [{"text": "pF1", "start": 99, "end": 102}], "disease": [{"text": "breast cancer", "start": 48, "end": 61}]}, "relations": {}}, "schema": []}
{"input": "Within the last two years, genome-wide association (GWA) analyses have revealed a number of novel low-risk susceptibility variants for Parkinson' s disease, among them HLA-DRB5, BST1, ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R) and have confirmed LINGO1 as risk factor for essential tremor.", "output": {"entities": {"gene": [{"text": "MCCC1", "start": 198, "end": 203}], "disease": [{"text": "essential tremor", "start": 281, "end": 297}]}, "relations": {}}, "schema": []}
{"input": "Opposite results were observed in MDA-MB-231 cells (highly invasive breast carcinoma), which have high NF-kappaB activity, further inducible by HGF, because HIF-1alpha mRNA expression and HIF-1 transactivating capacity were HGF-insensitive while the alpha subunit seemed to be degraded after HGF.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 103, "end": 112}], "disease": [{"text": "invasive breast carcinoma", "start": 59, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Using this model, we demonstrated that in the context of infection with influenza, NECs obtained from smokers create an overall cytokine microenvironment that suppresses the interferon-mediated Th1 response and enhances the TSLP-TARC-mediated Th2 response, with the potential to modify the responses of DCs.", "output": {"entities": {"gene": [{"text": "TARC", "start": 229, "end": 233}], "disease": [{"text": "influenza", "start": 72, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "YAP/TAZ are nuclear effectors of the Hippo pathway regulating organ growth and tumorigenesis.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 4, "end": 7}], "disease": [{"text": "tumorigenesis", "start": 79, "end": 92}]}, "relations": {}}, "schema": []}
{"input": "The results showed that ten sporadic tumours, three hereditary tumours (including C-cell hyperplasia), and one lymph gland metastasis displayed TFF1 immunoreactivity.", "output": {"entities": {"gene": [{"text": "TFF1", "start": 144, "end": 148}], "disease": [{"text": "sporadic", "start": 28, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "miR-21 also targets PDCD4 and Sprouty 1 (Spry1), and the combined downregulation of these proteins with PTEN is sufficient to confer resistance to hypoxia.", "output": {"entities": {"gene": [{"text": "miR-21", "start": 0, "end": 6}], "disease": [{"text": "hypoxia", "start": 147, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Here, we describe two missense mutations in hMLH1 exon 16 associated with colorectal cancer.", "output": {"entities": {"gene": [{"text": "hMLH1", "start": 44, "end": 49}], "disease": [{"text": "colorectal cancer", "start": 74, "end": 91}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "hMLH1", "start": 44, "end": 49}, "tail": {"text": "colorectal cancer", "start": 74, "end": 91}}]}}, "schema": []}
{"input": "The chromosome translocation t (7; 11) (p15; p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9.", "output": {"entities": {"gene": [{"text": "NUP98 gene", "start": 101, "end": 111}], "disease": [{"text": "chromosome translocation", "start": 4, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "To test the hypothesis that structural or functional abnormalities of the hemidesmosomes might contribute to the morphological appearance and biology of UDCs, we studied the expression of hemidesmosomal proteins in AMC-HN-9.", "output": {"entities": {"gene": [{"text": "AMC", "start": 215, "end": 218}], "disease": [{"text": "abnormalities", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The correlation between ANXA10 expression and the progression of pancreatic cancer remains unknown.", "output": {"entities": {"gene": [{"text": "ANXA10", "start": 24, "end": 30}], "disease": [{"text": "pancreatic cancer", "start": 65, "end": 82}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANXA10", "start": 24, "end": 30}, "tail": {"text": "pancreatic cancer", "start": 65, "end": 82}}]}}, "schema": []}
{"input": "The urinary excretion of 8-iso-PGF (2alpha) among non-diabetic non-smoking LL homozygotes was 3995. 5 +/-3352. 8 ng/24-hour and among M-allele carriers 1689. 8 +/-1051. 3 ng/24-hour (p = 0. 017, ANCOVA; gender, hypertension, total cholesterol, triglycerides and LDL cholesterol as covariates).", "output": {"entities": {"gene": [{"text": "PGF", "start": 31, "end": 34}], "disease": [{"text": "smoking", "start": 67, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Under basal conditions, rats exposed to perinatal malnutrition showed reduced body weight, enhanced mineralocorticoid receptor (MR) mRNA levels in CA2 and CA3 hippocampal areas, but decreased glucocorticoid receptor (GR) mRNA levels in CA1, CA3 and dentate gyrus (DG) areas.", "output": {"entities": {"gene": [{"text": "CA1", "start": 236, "end": 239}], "disease": [{"text": "malnutrition", "start": 50, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "The data suggest that the mechanism of menadione-induced JNK activation involves the production of reactive oxygen species, likely superoxide anion, and intracellular GSH levels play an important role in preventing GSTA1-JNK complex dissociation, subsequent JNK activation and induction of cytotoxicity.", "output": {"entities": {"gene": [{"text": "GSTA1", "start": 215, "end": 220}], "disease": [{"text": "dissociation", "start": 233, "end": 245}]}, "relations": {}}, "schema": []}
{"input": "Changes were detected in the expression of several proteins including the GluN2A subunit, unco-ordinated-5H3 (unc5H3), doublecortin, cyclo-oxygenase, sonic hedgehog and Disrupted in schizophrenia-1 (DISC1), although no differences in immunoreactive cell numbers were observed.", "output": {"entities": {"gene": [{"text": "sonic hedgehog", "start": 150, "end": 164}], "disease": [{"text": "schizophrenia", "start": 182, "end": 195}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.", "output": {"entities": {"gene": [{"text": "WASP", "start": 26, "end": 30}], "disease": [{"text": "X-linked thrombocytopenia", "start": 55, "end": 80}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "WASP", "start": 26, "end": 30}, "tail": {"text": "X-linked thrombocytopenia", "start": 55, "end": 80}}]}}, "schema": []}
{"input": "A gene-environment interaction was suggested, with a combination of the NAT2 slow acetylator genotype and smoking conferring significantly higher risk (OR = 6. 44, 95% CI = 3. 07-13. 52; attributable proportion due to interaction = 0. 50, 95% CI = 0. 12-0. 88), compared with the NAT2 rapid acetylator genotype and no history of smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 72, "end": 76}], "disease": [{"text": "smoking", "start": 106, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "After the age of 15 years, individuals should be referred to: a) annual ophthalmoscopy in dilation, b) annual neurological examination, c) every two years: MRIs of the CNS, including the inner ear, d) annual ultrasound/MRI of the abdomen, e) annual plasma-metanephrine, plasma-normetanephrine, and plasma-chromogranin A tests, and f) annual hearing examination at a department of audiology.", "output": {"entities": {"gene": [{"text": "chromogranin A", "start": 305, "end": 319}], "disease": [{"text": "dilation", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Expression studies of the wild type and mutant forms of UCP2 should clarify the functional consequences these polymorphisms may have on energy metabolism and body weight regulation.", "output": {"entities": {"gene": [{"text": "UCP2", "start": 56, "end": 60}], "disease": [{"text": "body weight", "start": 158, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The untreated CKD rats exhibited azotemia, hypertension, hypertriglyceridemia, proteinuria, glomerulosclerosis, tubulointerstitial damage, upregulation of MCP-1, plasminogen activator inhibitor-1 (PAI-1), transforming growth factor (TGF)-beta, cyclooxygenase (COX)-1, COX-2, and NAD (P) H oxidase (NOX-4, gp91 (phox), p47 (phox) and p22 (phox) subunits) and activation of NF-kappaB (IkappaB phosphorylation).", "output": {"entities": {"gene": [{"text": "p22", "start": 333, "end": 336}], "disease": [{"text": "azotemia", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3.", "output": {"entities": {"gene": [{"text": "GNAI3", "start": 122, "end": 127}], "disease": [{"text": "ACS", "start": 63, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "GNAI3", "start": 122, "end": 127}, "tail": {"text": "ACS", "start": 63, "end": 66}}]}}, "schema": []}
{"input": "If these findings become reproduced by larger studies, it may suggest that IL-13 and LTC4S SNPs can be used as predictive markers for asthma/atopy in African Americans.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 75, "end": 80}], "disease": [{"text": "atopy", "start": 141, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "In the current WHO classification of myeloid disorders, chronic neutrophilic leukaemia (CNL) is recognized as a myeloproliferative neoplasm characterized by sustained neutrophilic leukocytosis, hepatosplenomegaly and bone marrow granulocytic hyperplasia without evidence of dysplasia, BCR-ABL1 or rearrangements of PDGFRA, PDGFRB or FGFR1.", "output": {"entities": {"gene": [{"text": "PDGFRB", "start": 323, "end": 329}], "disease": [{"text": "granulocytic hyperplasia", "start": 229, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "A parallel orientation was most frequently encountered in BRCA1-associated lesions (46. 7%) versus sporadic (33. 8%) and BRCA2 (33. 3%), whereas posterior acoustic shadowing was least frequently seen in BRCA1-associated lesions (13. 3%) versus BRCA2 (16. 7%) and sporadic (31. 1%).", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 121, "end": 126}], "disease": [{"text": "sporadic", "start": 99, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "This study was performed to examine whether asymptomatic carriers of a mutated PPH gene can be identified at an early stage by their pulmonary artery systolic pressure (PASP) response to exercise.", "output": {"entities": {"gene": [{"text": "PPH", "start": 79, "end": 82}], "disease": [{"text": "asymptomatic", "start": 44, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "In human brain of depression patients, we then identified the potential genes, amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), well known AD modulators by integrating datasets from neuropathology, microarray, and RNA seq.", "output": {"entities": {"gene": [{"text": "APBA2", "start": 144, "end": 149}], "disease": [{"text": "depression", "start": 18, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to evaluate the hypothesis that HGF/c-Met plays a biological role in the invasive growth of adenoid cystic carcinoma (ACC).", "output": {"entities": {"gene": [{"text": "HGF", "start": 58, "end": 61}], "disease": [{"text": "adenoid cystic carcinoma", "start": 118, "end": 142}]}, "relations": {}}, "schema": []}
{"input": "Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.", "output": {"entities": {"gene": [{"text": "phenylalanine hydroxylase", "start": 126, "end": 151}], "disease": [{"text": "Maternal phenylketonuria", "start": 0, "end": 24}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "phenylalanine hydroxylase", "start": 126, "end": 151}, "tail": {"text": "Maternal phenylketonuria", "start": 0, "end": 24}}]}}, "schema": []}
{"input": "To analyze the role of OPN in immune system and autoimmune diseases, we have generated two kinds of transgenic mice: one carries the immunoglobulin (Ig) enhancer/SV40 promoter and the other carries the cytomegalovirus enhancer/chicken beta-actin (CAG) promoter.", "output": {"entities": {"gene": [{"text": "OPN", "start": 23, "end": 26}], "disease": [{"text": "cytomegalovirus", "start": 202, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Radical prostatectomy (RP) specimens from 74 patients with clinically localized PC (median follow-up 51 months, range 15-152), 44 benign prostatic hypertrophy (BPH) lesions, and 4 normal prostates (NPs) were assessed for BMP2, Smad8, and Smad4 expression using immunohistochemistry.", "output": {"entities": {"gene": [{"text": "Smad8", "start": 227, "end": 232}], "disease": [{"text": "benign prostatic hypertrophy", "start": 130, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "In this study, molecular defects in the sulphamidase gene of MPS-IIIA patients were investigated in a group of 10 patients of Australian and American origin.", "output": {"entities": {"gene": [{"text": "sulphamidase", "start": 40, "end": 52}], "disease": [{"text": "MPS-IIIA", "start": 61, "end": 69}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "sulphamidase", "start": 40, "end": 52}, "tail": {"text": "MPS-IIIA", "start": 61, "end": 69}}]}}, "schema": []}
{"input": "p-EGFR and p-MAPK were found in all chloracne tissues, whereas no expression was found in the controls.", "output": {"entities": {"gene": [{"text": "EGFR", "start": 2, "end": 6}], "disease": [{"text": "chloracne", "start": 36, "end": 45}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGFR", "start": 2, "end": 6}, "tail": {"text": "chloracne", "start": 36, "end": 45}}]}}, "schema": []}
{"input": "Up-regulation of Akt, as well as its upstream regulator phosphatidylinositol 3-kinase, has been found in many tumors, and the negative regulator of this pathway, mutated in multiple advanced cancers suppressor (MMAC; also known as phosphatase and tensin homologue deleted on chromosome 10), is a tumor suppressor gene.", "output": {"entities": {"gene": [{"text": "tensin", "start": 247, "end": 253}], "disease": [{"text": "cancers", "start": 191, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and facial dysmorphism is caused by defects in the SMARCAL1 gene.", "output": {"entities": {"gene": [{"text": "SMARCAL1 gene", "start": 225, "end": 238}], "disease": [{"text": "segmental glomerulosclerosis", "start": 113, "end": 141}]}, "relations": {}}, "schema": []}
{"input": "Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.", "output": {"entities": {"gene": [{"text": "ABCA1", "start": 164, "end": 169}], "disease": [{"text": "familial HDL deficiency", "start": 192, "end": 215}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCA1", "start": 164, "end": 169}, "tail": {"text": "familial HDL deficiency", "start": 192, "end": 215}}]}}, "schema": []}
{"input": "The first pathological change observed in the PPT1 (-/-) brain is regional areas of glial fibrillary acidic protein (GFAP) upregulation, which predicts future areas of neurodegeneration.", "output": {"entities": {"gene": [{"text": "GFAP", "start": 117, "end": 121}], "disease": [{"text": "neurodegeneration", "start": 168, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "In a prion model of chronic neurodegeneration and inflammation, CX3CL1 immunoreactivity is upregulated in astrocytes and CX3CR1 expression is elevated on microglia.", "output": {"entities": {"gene": [{"text": "CX3CL1", "start": 64, "end": 70}], "disease": [{"text": "neurodegeneration", "start": 28, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "Therefore, our results indicated that therapeutic approaches that neutralize CXCL4, a newly identified target of fibrosis, may represent a novel strategy for preventing and treating CLAD after liver transplantation.", "output": {"entities": {"gene": [{"text": "CXCL4", "start": 77, "end": 82}], "disease": [{"text": "fibrosis", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens.", "output": {"entities": {"gene": [{"text": "RLBP1", "start": 26, "end": 31}], "disease": [{"text": "retinitis punctata albescens", "start": 64, "end": 92}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RLBP1", "start": 26, "end": 31}, "tail": {"text": "retinitis punctata albescens", "start": 64, "end": 92}}]}}, "schema": []}
{"input": "Using ChIP-Seq, we find that in human and murine T-lymphoblastic leukemia (TLL) genomes Notch1 binds preferentially to promoters, to RBPJ binding sites, and near imputed ZNF143, ETS, and RUNX sites.", "output": {"entities": {"gene": [{"text": "TLL", "start": 75, "end": 78}], "disease": [{"text": "lymphoblastic leukemia", "start": 51, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "We tested 392 patients with schizophrenia or schizoaffective disorder and 226 healthy normal volunteers for association with NEUROG1.", "output": {"entities": {"gene": [{"text": "NEUROG1", "start": 125, "end": 132}], "disease": [{"text": "schizoaffective disorder", "start": 45, "end": 69}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NEUROG1", "start": 125, "end": 132}, "tail": {"text": "schizoaffective disorder", "start": 45, "end": 69}}]}}, "schema": []}
{"input": "Plasma concentrations of RANTES at day 0 after onset were significantly elevated in stroke patients, compared with controls, and were highly correlated with those of BDNF, EGF, and VEGF.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 25, "end": 31}], "disease": [{"text": "stroke", "start": 84, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Analysis by logistic regression including gender, IL-1alpha [+ 4845C > T], IL-1beta [-3954C > T], IL-6 [-174G > C] genotypes, the composite IL-1 genotype, the combination of the composite IL-1 genotype and the IL-6-174G > C genotype and adjusting for smoking did not result in any statistically significant difference.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 98, "end": 102}], "disease": [{"text": "smoking", "start": 251, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Effect of antisense MBD1 gene eukaryotic expression plasmid on expression of MBD1 gene in human biliary tract carcinoma cells.", "output": {"entities": {"gene": [{"text": "MBD1 gene", "start": 20, "end": 29}], "disease": [{"text": "biliary tract carcinoma", "start": 96, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Screening of mutations within PDE6B gene was performed using polymerase chain reaction-heteroduplex-single strand conformation polymorphism (PCR-SSCP) and DNA sequence in 35 autosomal recessive (AR) RP and 55 sporadic RP cases.", "output": {"entities": {"gene": [{"text": "PDE6B gene", "start": 30, "end": 40}], "disease": [{"text": "sporadic", "start": 209, "end": 217}]}, "relations": {}}, "schema": []}
{"input": "Because of this, and the observation that CHK2 mutations are inherited in some Li-Fraumeni cancer syndrome families, we decided to examine the role of CHK2 mutations in sporadic cancers.", "output": {"entities": {"gene": [{"text": "CHK2", "start": 42, "end": 46}], "disease": [{"text": "sporadic", "start": 169, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "All affected individuals first presented with CPEO and exercise intolerance in their twenties, and these were followed by muscle weakness, dysphagia, and spino-cerebellar signs with impaired gait coordination, dysmetria, and dysarthria.", "output": {"entities": {"gene": [{"text": "spino", "start": 154, "end": 159}], "disease": [{"text": "muscle weakness", "start": 122, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Flavin-containing mono-oxygenase 3 (FMO3) catalyses TMA oxidation and mutations in the FMO3 gene have recently been shown to underlie trimethylaminuria/fish odour syndrome.", "output": {"entities": {"gene": [{"text": "FMO3 gene", "start": 87, "end": 96}], "disease": [{"text": "mono", "start": 18, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Further, treatment of Nf1 OPG mice with AMD3100, a CXCR4 antagonist, did not attenuate glioma growth.", "output": {"entities": {"gene": [{"text": "OPG", "start": 26, "end": 29}], "disease": [{"text": "glioma", "start": 87, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 72, "end": 76}], "disease": [{"text": "cystic fibrosis", "start": 98, "end": 113}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 72, "end": 76}, "tail": {"text": "cystic fibrosis", "start": 98, "end": 113}}]}}, "schema": []}
{"input": "This study supports the fact that \" TMCO1-defect syndrome, \" initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum.", "output": {"entities": {"gene": [{"text": "TMCO1", "start": 36, "end": 41}], "disease": [{"text": "CFT", "start": 161, "end": 164}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TMCO1", "start": 36, "end": 41}, "tail": {"text": "CFT", "start": 161, "end": 164}}]}}, "schema": []}
{"input": "The recent identification of the EWS and FLI-1 genes flanking the translocation break point has enabled reverse transcriptase-polymerase chain reaction (RT-PCR) to be used to detect the putative chimeric transcription factor mRNA produced by the fusion gene.", "output": {"entities": {"gene": [{"text": "EWS", "start": 33, "end": 36}], "disease": [{"text": "translocation", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "Mutations of the StAR gene lead to impaired translocation of cholesterol from the outer mitochondrial membrane to the inner mitochondria, a rate limiting step in steroidogenesis in the adrenals and the gonads.", "output": {"entities": {"gene": [{"text": "StAR gene", "start": 17, "end": 26}], "disease": [{"text": "translocation", "start": 44, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "We examined the expression of eotaxin, eotaxin-2, RANTES, monocyte chemoattractant protein-3 (MCP-3), MCP-4, and CCR3 in the bronchial mucosa from atopic (AA) and nonatopic (intrinsic; NAA) asthmatics and compared our findings with atopic (AC) and nonatopic nonasthmatic controls (NC).", "output": {"entities": {"gene": [{"text": "RANTES", "start": 50, "end": 56}], "disease": [{"text": "atopic", "start": 147, "end": 153}]}, "relations": {}}, "schema": []}
{"input": "We hypothesize that selective adenovirus-mediated transgene expression could be achieved through the use of the secretory leukoprotease inhibitor (SLPI) promoter in the context of ovarian cancer.", "output": {"entities": {"gene": [{"text": "SLPI", "start": 147, "end": 151}], "disease": [{"text": "adenovirus", "start": 30, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "Canonical WNT signals are transduced through Frizzled (FZD) family receptor and LRP5/LRP6 co-receptor to upregulate FGF20, JAG1, DKK1, WISP1, CCND1 and MYC genes for cell-fate determination, while non-canonical WNT signals are transduced through FZD family receptor and ROR2/PTK7/RYK co-receptor to activate RHOA/RHOU/RAC/CDC42, JNK, PKC, NLK and NFAT signaling cascades for the regulation of tissue polarity, cell movement, and adhesion.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 308, "end": 312}], "disease": [{"text": "adhesion", "start": 429, "end": 437}]}, "relations": {}}, "schema": []}
{"input": "Mutation analysis of the guanylate cyclase 2D gene (GUCY2D, MIM 600179, previously called RETGC1), located at 17p12-p13, showed a missense mutation (R838C) in exon 13, that co-segregated with the eye disease in the family.", "output": {"entities": {"gene": [{"text": "p13", "start": 116, "end": 119}], "disease": [{"text": "eye disease", "start": 196, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 and CCL11 rs4795895 were associated with ischemic stroke.", "output": {"entities": {"gene": [{"text": "FCER1B", "start": 64, "end": 70}], "disease": [{"text": "ischemic stroke", "start": 152, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Treatment of MM cells with egr-1 short interfering RNA suppressed proliferation, which was overridden by exogenously added recombinant FGF-1 and, in particular, FGF-2.", "output": {"entities": {"gene": [{"text": "FGF-1", "start": 135, "end": 140}], "disease": [{"text": "MM", "start": 13, "end": 15}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FGF-1", "start": 135, "end": 140}, "tail": {"text": "MM", "start": 13, "end": 15}}]}}, "schema": []}
{"input": "We have demonstrated that the addition of recombinant adenovirus-expressing human Flt3 ligand (Adeno-Flt3L) after radio-inducible suicide gene therapy induced a Th1-biased, immune response and enhanced tumor control in an ectopic model of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 239, "end": 242}], "disease": [{"text": "adenovirus", "start": 54, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Chromosomal aberrations of HCC obtained from 20 patients with MS (HCC/MS) were studied by comparative genomic hybridisation and compared with HCC related to hepatitis C virus (HCV) infection (HCC/HCV, n = 10) and, within the group of HCC with MS, according to the condition of the background liver (presence or absence of significant fibrosis).", "output": {"entities": {"gene": [{"text": "HCC", "start": 27, "end": 30}], "disease": [{"text": "fibrosis", "start": 334, "end": 342}]}, "relations": {}}, "schema": []}
{"input": "An unselected series of 310 colorectal carcinomas, stratified according to microsatellite instability (MSI) and DNA ploidy, was examined for mutations and/or promoter hypermethylation of five components of the WNT signaling cascade [APC, CTNNB1 (encoding beta-catenin), AXIN2, TCF4, and WISP3] and three genes indirectly affecting this pathway [CDH1 (encoding E-cadherin), PTEN, and TP53].", "output": {"entities": {"gene": [{"text": "TCF4", "start": 277, "end": 281}], "disease": [{"text": "microsatellite instability", "start": 75, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "The results of this study contribute to the delineation of the molecular pathology of the AIRE gene and enhance our ability to perform a molecular diagnosis in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.", "output": {"entities": {"gene": [{"text": "AIRE", "start": 90, "end": 94}], "disease": [{"text": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "start": 160, "end": 222}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "AIRE", "start": 90, "end": 94}, "tail": {"text": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "start": 160, "end": 222}}]}}, "schema": []}
{"input": "Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.", "output": {"entities": {"gene": [{"text": "GPC6", "start": 103, "end": 107}], "disease": [{"text": "osteoporosis", "start": 111, "end": 123}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GPC6", "start": 103, "end": 107}, "tail": {"text": "osteoporosis", "start": 111, "end": 123}}]}}, "schema": []}
{"input": "Of the variants examined for association, none exhibited statistically significant association with ACR after accounting for the effects of covariates such as age, sex, diabetes, duration of diabetes, systolic blood pressure, and antihypertensive medications.", "output": {"entities": {"gene": [{"text": "ACR", "start": 100, "end": 103}], "disease": [{"text": "systolic blood pressure", "start": 201, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, IL-6, but not IL-11 showed a significant correlation with patient' s survival time, suggesting that tissue and plasma concentration of IL-6 might be a marker of tumor aggressiveness with prognostic value.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 13, "end": 17}], "disease": [{"text": "aggressiveness", "start": 180, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "Two recent candidate genes, ErbB3 and Fgfr1, are growth factors whose mRNA levels have been found to be altered in the leukocytes of patients that are affected by bipolar disorder in a depressive state.", "output": {"entities": {"gene": [{"text": "ErbB3", "start": 28, "end": 33}], "disease": [{"text": "depressive state", "start": 185, "end": 201}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ErbB3", "start": 28, "end": 33}, "tail": {"text": "depressive state", "start": 185, "end": 201}}]}}, "schema": []}
{"input": "Here, we investigated a mechanism that may regulate the expression of Ets-1 in vascular endothelial growth factor (VEGF)-and hypoxia-induced retinal neovascularization and that may have potential to inhibit ocular neovascular diseases.", "output": {"entities": {"gene": [{"text": "Ets-1", "start": 70, "end": 75}], "disease": [{"text": "retinal neovascularization", "start": 141, "end": 167}]}, "relations": {}}, "schema": []}
{"input": "Microarray studies have shown the expression of lysyl oxidase (LOX) to be elevated in hypoxic human tumour cells.", "output": {"entities": {"gene": [{"text": "LOX", "start": 63, "end": 66}], "disease": [{"text": "hypoxic", "start": 86, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "In addition, plasma progranulin levels are significantly decreased in BD [mean & #177; standard deviation (SD) 112 & #177; 35 versus 183 & #177; 93 ng/mL in controls; p & lt; 0. 001].", "output": {"entities": {"gene": [{"text": "progranulin", "start": 20, "end": 31}], "disease": [{"text": "BD", "start": 70, "end": 72}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "progranulin", "start": 20, "end": 31}, "tail": {"text": "BD", "start": 70, "end": 72}}]}}, "schema": []}
{"input": "Post-relapse survival was worse for BRCA1-and better for BRCA2-associated patients as compared to sporadic patients, but differences disappeared after adjustment for ER-status, site of first DM and DDFI.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 57, "end": 62}], "disease": [{"text": "sporadic", "start": 98, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Here we illustrate that activation of FPRL-1 in human U87 astrocytoma or Chinese hamster ovary cells stably expressing the receptor resulted in the phosphorylations of inhibitor-kappaB kinase (IKK), an onset kinase for NFkappaB signaling cascade.", "output": {"entities": {"gene": [{"text": "U87", "start": 54, "end": 57}], "disease": [{"text": "astrocytoma", "start": 58, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Caucasians were genotyped for 109 haplotype-tagging single-nucleotide polymorphisms (SNP) in CYP17A1, ESR1, CYP19A1, and HSD3B1, and their prognostic significance on disease progression was assessed using Kaplan-Meier survival curves and Cox regression models.", "output": {"entities": {"gene": [{"text": "ESR1", "start": 102, "end": 106}], "disease": [{"text": "regression", "start": 242, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Our results reveal that BA exerts its anti-metastatic effect against DEN-induced hepatocellular carcinoma by inhibiting the activities and expressions of MMP-2 and MMP-9.", "output": {"entities": {"gene": [{"text": "MMP-9", "start": 164, "end": 169}], "disease": [{"text": "hepatocellular carcinoma", "start": 81, "end": 105}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP-9", "start": 164, "end": 169}, "tail": {"text": "hepatocellular carcinoma", "start": 81, "end": 105}}]}}, "schema": []}
{"input": "FAK/RACK1/PDE4D5 is a novel' direction-sensing' complex that acts to recruit specific components of the cAMP second-messenger system to nascent integrin adhesions and to the leading edge of polarizing cells.", "output": {"entities": {"gene": [{"text": "RACK1", "start": 4, "end": 9}], "disease": [{"text": "adhesions", "start": 153, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.", "output": {"entities": {"gene": [{"text": "TSEN2", "start": 38, "end": 43}], "disease": [{"text": "Pontocerebellar hypoplasia type 2", "start": 0, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TSEN2", "start": 38, "end": 43}, "tail": {"text": "Pontocerebellar hypoplasia type 2", "start": 0, "end": 33}}]}}, "schema": []}
{"input": "None of the normal pancreata from sporadic or familial lesions revealed germ-line p53 alterations.", "output": {"entities": {"gene": [{"text": "p53", "start": 82, "end": 85}], "disease": [{"text": "sporadic", "start": 34, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The P250R recurrent FGFR 3 mutation was found in 2/22 cases presenting mild clinical manifestations of the disease but 4/22 cases failed to harbour TWIST or FGFR 3 mutations.", "output": {"entities": {"gene": [{"text": "P250R", "start": 4, "end": 9}], "disease": [{"text": "mild", "start": 71, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We present the novel finding that CD40L binds to the EQLKKSKTL motif on Mac-1 mediating leukocyte recruitment and atherogenesis.", "output": {"entities": {"gene": [{"text": "CD40L", "start": 34, "end": 39}], "disease": [{"text": "atherogenesis", "start": 114, "end": 127}]}, "relations": {}}, "schema": []}
{"input": "We investigated the actions of several hormones known to stimulate PRL secretion by the pituitary gland or decidua on PRL secretion by leiomyoma-derived smooth muscle cells (SMC) in monolayer culture.", "output": {"entities": {"gene": [{"text": "SMC", "start": 174, "end": 177}], "disease": [{"text": "leiomyoma", "start": 135, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "However, antisense to TRPC6, but not to TRPC1, reversed the mechanical hyperalgesia induced by a thermal injury or the TRPV4-selective agonist 4alpha-PDD (4 alpha-phorbol 12, 13-didecanoate).", "output": {"entities": {"gene": [{"text": "TRPC1", "start": 40, "end": 45}], "disease": [{"text": "mechanical hyperalgesia", "start": 60, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes.", "output": {"entities": {"gene": [{"text": "PKHD1", "start": 97, "end": 102}], "disease": [{"text": "ARPKD", "start": 124, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PKHD1", "start": 97, "end": 102}, "tail": {"text": "ARPKD", "start": 124, "end": 129}}]}}, "schema": []}
{"input": "Interleukin-11 attenuates ifosfamide-induced hemorrhagic cystitis.", "output": {"entities": {"gene": [{"text": "Interleukin-11", "start": 0, "end": 14}], "disease": [{"text": "cystitis", "start": 57, "end": 65}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Interleukin-11", "start": 0, "end": 14}, "tail": {"text": "cystitis", "start": 57, "end": 65}}]}}, "schema": []}
{"input": "To confirm translational relevance of this work, USP18 and PTEN immunohistochemical expression were compared in comprehensive lung cancer arrays.", "output": {"entities": {"gene": [{"text": "USP18", "start": 49, "end": 54}], "disease": [{"text": "lung cancer", "start": 126, "end": 137}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "USP18", "start": 49, "end": 54}, "tail": {"text": "lung cancer", "start": 126, "end": 137}}]}}, "schema": []}
{"input": "Silencing of homeobox B9 is associated with down-regulation of CD56 and extrathyroidal extension of tumor in papillary thyroid carcinoma.", "output": {"entities": {"gene": [{"text": "homeobox B9", "start": 13, "end": 24}], "disease": [{"text": "papillary thyroid carcinoma", "start": 109, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Expression of ENA-78-like protein in both the AIA serum and joint correlated with the progression of inflammation of the joints.", "output": {"entities": {"gene": [{"text": "ENA-78", "start": 14, "end": 20}], "disease": [{"text": "inflammation", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "As PGP was not fully informative, 12 additional DNA markers were tested in these families to clarify if a gene involved in the etiology of manic depressive illness might be located on chromosome 16p13.", "output": {"entities": {"gene": [{"text": "PGP", "start": 3, "end": 6}], "disease": [{"text": "manic depressive illness", "start": 139, "end": 163}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PGP", "start": 3, "end": 6}, "tail": {"text": "manic depressive illness", "start": 139, "end": 163}}]}}, "schema": []}
{"input": "Cutaneous T cell lymphoma with suppressor/cytotoxic (CD8) phenotype: identification of rapidly progressive and chronic subtypes.", "output": {"entities": {"gene": [{"text": "CD8", "start": 53, "end": 56}], "disease": [{"text": "rapidly progressive", "start": 87, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "We found that the levels of TNF-α, ICAM-1, IL-1β, NGF, BDNF, and neuronal apoptosis rate in neonatal rats with HIBD significantly increased at 6, 24, 48, and 72 hr after hypoxia compared to the control group (p <. 05) and returned back to normal by 7 days.", "output": {"entities": {"gene": [{"text": "NGF", "start": 50, "end": 53}], "disease": [{"text": "hypoxia", "start": 170, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "The relevance of many BRCA2 variants of uncertain significance (VUS) to breast cancer has not been determined due to limited genetic information from families carrying these alterations.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 22, "end": 27}], "disease": [{"text": "breast cancer", "start": 72, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRCA2", "start": 22, "end": 27}, "tail": {"text": "breast cancer", "start": 72, "end": 85}}]}}, "schema": []}
{"input": "The critical region of 3. 17 Mb harbored the PTPRQ gene and mouse models with homozygous mutations in the orthologous gene display severe hearing loss.", "output": {"entities": {"gene": [{"text": "PTPRQ gene", "start": 45, "end": 55}], "disease": [{"text": "severe hearing loss", "start": 131, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Here we present a case of a sporadic nodule-in-nodule-type HCC that provides the first evidence that biallelic genetic inactivation of the APC gene contributed to the development of the tumor.", "output": {"entities": {"gene": [{"text": "HCC", "start": 59, "end": 62}], "disease": [{"text": "nodule", "start": 37, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "Namely, R3HDML and C20orf39 are significantly associated with depressive symptoms of schizophrenia (P (emp) & lt; 2 & #215; 10 & #8315; & #8309;) based on the minimum P-value and truncated-product methods, respectively.", "output": {"entities": {"gene": [{"text": "R3HDML", "start": 8, "end": 14}], "disease": [{"text": "depressive symptoms", "start": 62, "end": 81}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "R3HDML", "start": 8, "end": 14}, "tail": {"text": "depressive symptoms", "start": 62, "end": 81}}]}}, "schema": []}
{"input": "Direct DNA sequencing of the most commonly mutated genes in sporadic endometrial cancer, PTEN, K-RAS, TP53, and CTNNB1, was performed in addition to microsatellite instability (MI) studies.", "output": {"entities": {"gene": [{"text": "TP53", "start": 102, "end": 106}], "disease": [{"text": "sporadic", "start": 60, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "The current study aimed to determine if generalized anxiety disorder (GAD), panic disorder, phobias, major depressive disorder (MDD), anorexia nervosa (AN), or bulimia nervosa (BN) shared common genetic or environmental factors with caffeine use, caffeine tolerance, or caffeine withdrawal.", "output": {"entities": {"gene": [{"text": "GAD", "start": 70, "end": 73}], "disease": [{"text": "caffeine withdrawal", "start": 270, "end": 289}]}, "relations": {}}, "schema": []}
{"input": "We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).", "output": {"entities": {"gene": [{"text": "MIM", "start": 236, "end": 239}], "disease": [{"text": "aniridia", "start": 364, "end": 372}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we reviewed data regarding to the pivotal role played by the zinc-gene interaction in affecting some relevant cytokines (IL-6 and TNF-alpha) and heat shock proteins (Hsp70-2) in ageing, successful ageing (nonagenarians) and in some age-related diseases (atherosclerosis and infections).", "output": {"entities": {"gene": [{"text": "Hsp70-2", "start": 181, "end": 188}], "disease": [{"text": "shock", "start": 165, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "Our findings provide new clues for a better understanding of BMPs contribution, and in particular BMP9, in HCC pathogenesis that may result in the development of effective and targeted therapeutic interventions.", "output": {"entities": {"gene": [{"text": "BMP9", "start": 98, "end": 102}], "disease": [{"text": "HCC", "start": 107, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BMP9", "start": 98, "end": 102}, "tail": {"text": "HCC", "start": 107, "end": 110}}]}}, "schema": []}
{"input": "MED has been associated with mild myopathy in some families, in particular one family with a COL9A3 mutation and two families with C-terminal COMP mutations.", "output": {"entities": {"gene": [{"text": "COMP", "start": 142, "end": 146}], "disease": [{"text": "mild", "start": 29, "end": 33}]}, "relations": {}}, "schema": []}
{"input": "Imbalanced down-regulation of ACE and ACE2 mRNA expression levels may play an important role in the development and progression of thoracic aortic aneurysmal dilatation and subsequently dissection.", "output": {"entities": {"gene": [{"text": "ACE", "start": 30, "end": 33}], "disease": [{"text": "thoracic", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Since there is no other available probe in this region, pCN2 should prove very useful in studying abnormalities of chromosome 9p in human malignancies.", "output": {"entities": {"gene": [{"text": "pCN2", "start": 56, "end": 60}], "disease": [{"text": "abnormalities", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "AR-regulated TWEAK-FN14 pathway promotes prostate cancer bone metastasis.", "output": {"entities": {"gene": [{"text": "TWEAK", "start": 13, "end": 18}], "disease": [{"text": "bone metastasis", "start": 57, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that downregulation of SERCA2 mRNA, resulting in altered Ca (2 +) handling, may contribute to impaired LV contractile reserve in HCM patients with severe hypertrophy, even in the absence of detectable baseline systolic dysfunction.", "output": {"entities": {"gene": [{"text": "SERCA2", "start": 45, "end": 51}], "disease": [{"text": "hypertrophy", "start": 176, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Although the introduction of highly active antiretroviral therapy (HAART) has resulted in a significant decrease of acquired immunodeficiency syndrome (AIDS) morbidity and mortality, the prevalence of human immunodeficiency virus (HIV)-associated dementia (HAD) has actually risen, due to the increasing life expectancy of the infected subjects.", "output": {"entities": {"gene": [{"text": "HAD", "start": 257, "end": 260}], "disease": [{"text": "immunodeficiency syndrome", "start": 125, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "The objective of the current study was to examine the prospective association of 3 polymorphisms-a Tth111I restriction fragment in the promoter region, a BclI polymorphism in intron 2, and an A/G polymorphism in exon 2-of the GRL gene on estimates of obesity, hypertension, and diabetes in 163 unrelated Swedish men born in 1944.", "output": {"entities": {"gene": [{"text": "GRL", "start": 226, "end": 229}], "disease": [{"text": "obesity", "start": 251, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "Patients with HCC suffer from chronic hepatitis or liver cirrhosis, and their reserve liver function is often limited.", "output": {"entities": {"gene": [{"text": "HCC", "start": 14, "end": 17}], "disease": [{"text": "chronic hepatitis", "start": 30, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "IL-17A increased appeared to promote fibrosis by activating inflammatory and liver resident cells.", "output": {"entities": {"gene": [{"text": "IL-17A", "start": 0, "end": 6}], "disease": [{"text": "fibrosis", "start": 37, "end": 45}]}, "relations": {}}, "schema": []}
{"input": "To investigate the effect of interferon (IFN)-γ administration on renal interstitial fibrosis (RIF) and intrarenal vascular resistance of diseased kidneys in a reversible unilateral ureteral obstruction (RUUO) animal model.", "output": {"entities": {"gene": [{"text": "IFN", "start": 41, "end": 44}], "disease": [{"text": "renal interstitial fibrosis", "start": 66, "end": 93}]}, "relations": {}}, "schema": []}
{"input": "Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.", "output": {"entities": {"gene": [{"text": "COL3A1", "start": 40, "end": 46}], "disease": [{"text": "Ehlers-Danlos syndrome type IV", "start": 67, "end": 97}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COL3A1", "start": 40, "end": 46}, "tail": {"text": "Ehlers-Danlos syndrome type IV", "start": 67, "end": 97}}]}}, "schema": []}
{"input": "Moreover, HMGB3 expression was upregulated in bladder cancer tissues and showed inverse correlation with miR-532-5p expression.", "output": {"entities": {"gene": [{"text": "HMGB3", "start": 10, "end": 15}], "disease": [{"text": "bladder cancer", "start": 46, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "HMGB3", "start": 10, "end": 15}, "tail": {"text": "bladder cancer", "start": 46, "end": 60}}]}}, "schema": []}
{"input": "Beta-3-adrenergic receptor (beta-3-AR) and insulin receptor substrate 1 (IRS-1) have been implicated in the pathogenesis of obesity and in obesity related increase in insulin resistance which is associated with, among other diseases, dyslipidemia and type 2 diabetes mellitus.", "output": {"entities": {"gene": [{"text": "Beta-3-adrenergic receptor", "start": 0, "end": 26}], "disease": [{"text": "insulin resistance", "start": 167, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "HLA-B * 35 is associated with increased risk of developing pulmonary hypertension in SSc patients.", "output": {"entities": {"gene": [{"text": "HLA-B", "start": 0, "end": 5}], "disease": [{"text": "pulmonary hypertension", "start": 59, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "APOE R136S and p. Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively.", "output": {"entities": {"gene": [{"text": "APOE", "start": 0, "end": 4}], "disease": [{"text": "FD", "start": 54, "end": 56}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "APOE", "start": 0, "end": 4}, "tail": {"text": "FD", "start": 54, "end": 56}}]}}, "schema": []}
{"input": "Surprisingly, our observations in Swedish FAD showing a remarkable abundance of A beta 42 in both parenchymal and vascular deposits were qualitatively similar to the Down' s syndrome and most sporadic AD cases, and to previously published A beta PP717 FAD.", "output": {"entities": {"gene": [{"text": "FAD", "start": 42, "end": 45}], "disease": [{"text": "sporadic", "start": 192, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "This high percentage of LOH seems to corroborate the important role of p53 in sporadic colorectal cancer.", "output": {"entities": {"gene": [{"text": "p53", "start": 71, "end": 74}], "disease": [{"text": "sporadic", "start": 78, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In 5 of 21 sporadic patients, we found 3 de novo missense mutations in the region encoding the highly conserved methyl-binding domain (MBD) as well as a de novo frameshift and a de novo nonsense mutation, both of which disrupt the transcription repression domain (TRD).", "output": {"entities": {"gene": [{"text": "TRD", "start": 264, "end": 267}], "disease": [{"text": "sporadic", "start": 11, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Genetic variation in 24 ROS-related genes, including EGFR, CENPE, APEX1, and GSTP1, was associated with mRNA expression of 14 genes previously linked to fibrosis (P ≤. 005).", "output": {"entities": {"gene": [{"text": "APEX1", "start": 66, "end": 71}], "disease": [{"text": "fibrosis", "start": 153, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "ATF2 has been implicated in a transcriptional response leading to cell migration and malignant tumor progression.", "output": {"entities": {"gene": [{"text": "ATF2", "start": 0, "end": 4}], "disease": [{"text": "malignant tumor", "start": 85, "end": 100}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ATF2", "start": 0, "end": 4}, "tail": {"text": "malignant tumor", "start": 85, "end": 100}}]}}, "schema": []}
{"input": "A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.", "output": {"entities": {"gene": [{"text": "EIF4A3", "start": 25, "end": 31}], "disease": [{"text": "Richieri-Costa-Pereira syndrome", "start": 39, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EIF4A3", "start": 25, "end": 31}, "tail": {"text": "Richieri-Costa-Pereira syndrome", "start": 39, "end": 70}}]}}, "schema": []}
{"input": "Further studies are needed to investigate whether modulation of AhR might be used in the treatment of BD.", "output": {"entities": {"gene": [{"text": "AhR", "start": 64, "end": 67}], "disease": [{"text": "BD", "start": 102, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "AhR", "start": 64, "end": 67}, "tail": {"text": "BD", "start": 102, "end": 104}}]}}, "schema": []}
{"input": "In patient fibroblasts, the activity of sulfatases is partially restored by transduction of FGE encoding cDNA, but not by cDNA carrying an MSD mutation.", "output": {"entities": {"gene": [{"text": "FGE", "start": 92, "end": 95}], "disease": [{"text": "MSD", "start": 139, "end": 142}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGE", "start": 92, "end": 95}, "tail": {"text": "MSD", "start": 139, "end": 142}}]}}, "schema": []}
{"input": "Here, we investigated the significance of the glutamate-L:-cysteine ligase catalytic subunit (GCLC) expression, a key regulator of glutathione synthesis, for malignant melanoma.", "output": {"entities": {"gene": [{"text": "GCLC", "start": 94, "end": 98}], "disease": [{"text": "malignant melanoma", "start": 158, "end": 176}]}, "relations": {}}, "schema": []}
{"input": "Gelatinase B transcripts were commonly observed in the sinusoidal cells of the hepatic lobules, in mesenchymal cells both in fibrous capsules and around the necrosis, and also in some undefined cells of the portal tracts of noncancerous liver.", "output": {"entities": {"gene": [{"text": "Gelatinase B", "start": 0, "end": 12}], "disease": [{"text": "necrosis", "start": 157, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "We examined the involvement of plasma adropin and adropin-associated genes (ENHO and RXRA) in metabolic abnormalities of hemodialysis (HD) patients.", "output": {"entities": {"gene": [{"text": "ENHO", "start": 76, "end": 80}], "disease": [{"text": "abnormalities", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Rho kinase-mediated vasoconstriction rather than fixed arterial wall thickening is responsible for increased pulmonary vascular resistance and pulmonary hypertension in chronically hypoxic and monocrotaline-injected rats.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 0, "end": 10}], "disease": [{"text": "pulmonary hypertension", "start": 143, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "Mutations in TAZ are associated with Barth syndrome (BTHS), the X-linked recessive condition with dilated cardiomyopathy, skeletal myopathy, growth retardation, neutropenia and organic aciduria.", "output": {"entities": {"gene": [{"text": "BTHS", "start": 53, "end": 57}], "disease": [{"text": "organic aciduria", "start": 177, "end": 193}]}, "relations": {}}, "schema": []}
{"input": "We first demonstrated that SphK-1 is overexpressed in endothelial cells (EC) isolated from rat brain tumors compared with EC from normal brain.", "output": {"entities": {"gene": [{"text": "SphK", "start": 27, "end": 31}], "disease": [{"text": "brain tumors", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "To investigate possible differences in Th1 and Th2 cytokine mRNA expression in the synovial tissue (ST) of patients with rheumatoid arthritis (RA) and seronegative spondyloarthropathies (SpA) with diagnostic and/or pathogenic interest.", "output": {"entities": {"gene": [{"text": "Th1", "start": 39, "end": 42}], "disease": [{"text": "spondyloarthropathies", "start": 164, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "These findings demonstrate that Ang II stimulates the epigenetic regulation of S1PR1 expression via H & lt; sub & gt; 2 & lt;/sub & gt; O & lt; sub & gt; 2 & lt;/sub & gt;-mediated APE/Ref-1 translocation, which may consequently be involved in Ang II-induced VSMC migration and vascular neointima formation.", "output": {"entities": {"gene": [{"text": "S1PR1", "start": 79, "end": 84}], "disease": [{"text": "neointima formation", "start": 287, "end": 306}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S1PR1", "start": 79, "end": 84}, "tail": {"text": "neointima formation", "start": 287, "end": 306}}]}}, "schema": []}
{"input": "SYBR Green PCR and IHC confirmed that the STIP-1 mRNA and protein expression levels were significantly up-regulated in ovarian cancers compared with normal and benign tumors (P = 0. 003 and P < 0. 001, respectively).", "output": {"entities": {"gene": [{"text": "STIP", "start": 42, "end": 46}], "disease": [{"text": "benign tumors", "start": 160, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "These results support the protective role of DT-diaphorase against aminochrome neurotoxicity in dopaminergic neurons containing neuromelanin and show that Nq6 and Nq7 siRNA are very useful tools to study the role of DT-diaphorase in aminochrome metabolism.", "output": {"entities": {"gene": [{"text": "DT-diaphorase", "start": 45, "end": 58}], "disease": [{"text": "neurotoxicity", "start": 79, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "DT-diaphorase", "start": 45, "end": 58}, "tail": {"text": "neurotoxicity", "start": 79, "end": 92}}]}}, "schema": []}
{"input": "The positive rates of PCNA and GST-pi were 34. 8% (8/23) and 25. 0% (4/16) in chronic hepatitis, 73. 7% (14/19) and 17. 6% (3/17) in liver cirrhosis, 86. 7% (13/15) and 53. 3% (8/15) in the paratumorous tissue, 100% (15/15) and 60. 0% (9/15) in HCC, respectively, and the positive rate of GST-pi in the paratumorous tissue was significantly higher than that in the liver cirrhosis without tumor (P < 0. 05), but same as that in HCC (P > 0. 05).", "output": {"entities": {"gene": [{"text": "HCC", "start": 245, "end": 248}], "disease": [{"text": "chronic hepatitis", "start": 78, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Increased muscle and adipose tissue PPARgamma and PGC-1alpha expression in response to physical training may mediate the beneficial effects of exercise on insulin sensitivity.", "output": {"entities": {"gene": [{"text": "PGC-1alpha", "start": 50, "end": 60}], "disease": [{"text": "insulin sensitivity", "start": 155, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "One form of mucin was the native, highly glycosylated MUC1 isolated from the ascites of breast or pancreatic cancer patients.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 54, "end": 58}], "disease": [{"text": "ascites", "start": 77, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that inducible ischemia leads to cytokine production, TF expression, and consequently persistent left ventricular dysfunction after dobutamine stress echocardiography (DSE) in coronary artery disease patients.", "output": {"entities": {"gene": [{"text": "DSE", "start": 184, "end": 187}], "disease": [{"text": "coronary artery disease", "start": 192, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "DNA extracted from 84 DBS samples from chronic obstructive pulmonary disease patients was genotyped for AAT deficiency variants by real-time PCR.", "output": {"entities": {"gene": [{"text": "DBS", "start": 22, "end": 25}], "disease": [{"text": "chronic obstructive pulmonary disease", "start": 39, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "BRAF mutations in non-Hodgkin' s lymphoma.", "output": {"entities": {"gene": [{"text": "BRAF", "start": 0, "end": 4}], "disease": [{"text": "non-Hodgkin' s lymphoma", "start": 18, "end": 41}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "BRAF", "start": 0, "end": 4}, "tail": {"text": "non-Hodgkin' s lymphoma", "start": 18, "end": 41}}]}}, "schema": []}
{"input": "Human serum paraoxonase-1 (PON1) prevents oxidation of low density lipoprotein cholesterol (LDL-C) and hydrolyzes the oxidized form, therefore preventing the development of atherosclerosis.", "output": {"entities": {"gene": [{"text": "paraoxonase-1", "start": 12, "end": 25}], "disease": [{"text": "atherosclerosis", "start": 173, "end": 188}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "paraoxonase-1", "start": 12, "end": 25}, "tail": {"text": "atherosclerosis", "start": 173, "end": 188}}]}}, "schema": []}
{"input": "Together with the two previous studies, this report shows that inappropriate stimulation of the FSHr by hCG is a cause of spontaneous OHSS.", "output": {"entities": {"gene": [{"text": "FSHr", "start": 96, "end": 100}], "disease": [{"text": "OHSS", "start": 134, "end": 138}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FSHr", "start": 96, "end": 100}, "tail": {"text": "OHSS", "start": 134, "end": 138}}]}}, "schema": []}
{"input": "Molecular variation in DNAH1 may play a role in PCD and its potential contribution should be considered in patients where all known genes are excluded.", "output": {"entities": {"gene": [{"text": "DNAH1", "start": 23, "end": 28}], "disease": [{"text": "PCD", "start": 48, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNAH1", "start": 23, "end": 28}, "tail": {"text": "PCD", "start": 48, "end": 51}}]}}, "schema": []}
{"input": "Lysophosphatidic acid (LPA) has been implicated in ovarian oncogenesis as levels of this lipid are elevated in patient ascites and plasma.", "output": {"entities": {"gene": [{"text": "LPA", "start": 23, "end": 26}], "disease": [{"text": "ascites", "start": 119, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Use of our consensus primers eliminates the need for separate PCRs to amplify EWS-FLI and EWS-ERG translocation junctions, and because direct sequencing is used for confirming the identity of the amplification product, the accuracy of detection becomes 100%.", "output": {"entities": {"gene": [{"text": "EWS", "start": 78, "end": 81}], "disease": [{"text": "translocation", "start": 98, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "The functions of SIRT1 in the migration and invasion in the HCC cell line were analyzed by infecting cells with adenovirus containing full-length SIRT1 or sh-RNA.", "output": {"entities": {"gene": [{"text": "HCC", "start": 60, "end": 63}], "disease": [{"text": "adenovirus", "start": 112, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In this study, we examined five single-nucleotide polymorphisms (SNPs) within or near the dopamine D (1) receptor gene (DRD1) for their association with ND, which was assessed by smoking quantity (SQ), the Heaviness of Smoking Index (HSI), and the Fagerström Test for ND (FTND).", "output": {"entities": {"gene": [{"text": "DRD1", "start": 120, "end": 124}], "disease": [{"text": "smoking", "start": 179, "end": 186}]}, "relations": {}}, "schema": []}
{"input": "Alleles of CDKN2B-AS1 SNPs, which influence risk of developing POAG, also modulate optic nerve degeneration among POAG patients, underscoring the role of CDKN2B-AS1 in POAG.", "output": {"entities": {"gene": [{"text": "CDKN2B-AS1", "start": 11, "end": 21}], "disease": [{"text": "nerve degeneration", "start": 89, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.", "output": {"entities": {"gene": [{"text": "ASXL3", "start": 325, "end": 330}], "disease": [{"text": "chronic lymphocytic leukaemia", "start": 125, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "Specifically, application of IL-22 is associated with tissue protection and/or regeneration in murine models of infection/microbe-driven inflammation at host/environment interfaces, ventilator-induced lung injury, pancreatitis and liver damage.", "output": {"entities": {"gene": [{"text": "IL-22", "start": 29, "end": 34}], "disease": [{"text": "pancreatitis", "start": 214, "end": 226}]}, "relations": {}}, "schema": []}
{"input": "Taking into account the ability of alpha-amylase to hydrolyze the internal alpha-1, 4 linkages of polysaccharides, we wanted to elucidate the involvement of alpha-amylase in XDH/XOD mobilization from the gastrointestinal endothelial cell surface and the relevance of the ascitic fluid (AF) as the source of alpha-amylase in experimental acute pancreatitis.", "output": {"entities": {"gene": [{"text": "XDH", "start": 174, "end": 177}], "disease": [{"text": "acute pancreatitis", "start": 337, "end": 355}]}, "relations": {}}, "schema": []}
{"input": "SAA in particular may serve as a potential marker for detecting stomach cancer.", "output": {"entities": {"gene": [{"text": "SAA", "start": 0, "end": 3}], "disease": [{"text": "stomach cancer", "start": 64, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "We conclude that α-CD137 and α-PD-1 antibodies were most effective in enhancing SBRT-induced tumor growth delay in this mouse melanoma model, outperforming the ability of IL-2, or the combination of α-CTLA-4 and α-PD-1 to synergize with SBRT.", "output": {"entities": {"gene": [{"text": "CTLA-4", "start": 201, "end": 207}], "disease": [{"text": "growth delay", "start": 99, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.", "output": {"entities": {"gene": [{"text": "growth hormone receptor", "start": 12, "end": 35}], "disease": [{"text": "Laron syndrome", "start": 75, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "growth hormone receptor", "start": 12, "end": 35}, "tail": {"text": "Laron syndrome", "start": 75, "end": 89}}]}}, "schema": []}
{"input": "We investigated whether CXCR2 expression contributed to the failure of neutrophils to migrate during severe sepsis and the role of NO in modulating CXCR2 expression on neutrophils in mice subjected to nonsevere (NS) or severe (S) cecal ligation and puncture (CLP).", "output": {"entities": {"gene": [{"text": "CLP", "start": 259, "end": 262}], "disease": [{"text": "severe sepsis", "start": 101, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "We have previously shown that linking therapeutic transgene expression to induction of the chemokine CCL5/RANTES allows a more focused expression within primary tumors, as the adoptively transferred MSC develop carcinoma-associated fibroblast-like characteristics.", "output": {"entities": {"gene": [{"text": "MSC", "start": 199, "end": 202}], "disease": [{"text": "carcinoma", "start": 211, "end": 220}]}, "relations": {}}, "schema": []}
{"input": "Leukaemia-DCs transduced with OX40L elicited higher proliferative response of allogeneic CD4 + T cells than fresh leukaemic cells, non-transduced, or mock-transduced leukaemia-DCs.", "output": {"entities": {"gene": [{"text": "CD4", "start": 89, "end": 92}], "disease": [{"text": "leukaemia", "start": 166, "end": 175}]}, "relations": {}}, "schema": []}
{"input": "The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly.", "output": {"entities": {"gene": [{"text": "PITX1", "start": 43, "end": 48}], "disease": [{"text": "clubfoot", "start": 123, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PITX1", "start": 43, "end": 48}, "tail": {"text": "clubfoot", "start": 123, "end": 131}}]}}, "schema": []}
{"input": "Online SAGE datasets revealed intelectin to be consistently present in mesothelioma (s), ovarian cancer, and colon cancer.", "output": {"entities": {"gene": [{"text": "SAGE", "start": 7, "end": 11}], "disease": [{"text": "mesothelioma", "start": 71, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "CD97, but not its closely related EGF-TM7 family member EMR2, is expressed on gastric, pancreatic, and esophageal carcinomas.", "output": {"entities": {"gene": [{"text": "EGF", "start": 34, "end": 37}], "disease": [{"text": "esophageal", "start": 103, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "To study the relationships between mutagenesis and carcinogenesis, we compared the mutations and their frequency induced by ultraviolet irradiation at 254 nm (UV-C) in XP-D (GM-08207B/XP6BE), TTD/XP-D (TTD1VI-LAS-KMT11) and wild-type (MRC-5V1) human cells.", "output": {"entities": {"gene": [{"text": "LAS", "start": 209, "end": 212}], "disease": [{"text": "carcinogenesis", "start": 51, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.", "output": {"entities": {"gene": [{"text": "ITGB2", "start": 107, "end": 112}], "disease": [{"text": "leukocyte adhesion deficiency type 1", "start": 36, "end": 72}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ITGB2", "start": 107, "end": 112}, "tail": {"text": "leukocyte adhesion deficiency type 1", "start": 36, "end": 72}}]}}, "schema": []}
{"input": "We have thus provided the first evidence that early induction of HSP70 by chronic hypoxia is critical for maintaining expression levels of presynaptic proteins.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 65, "end": 70}], "disease": [{"text": "hypoxia", "start": 82, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome.", "output": {"entities": {"gene": [{"text": "SLC29A3", "start": 9, "end": 16}], "disease": [{"text": "H syndrome", "start": 76, "end": 86}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SLC29A3", "start": 9, "end": 16}, "tail": {"text": "H syndrome", "start": 76, "end": 86}}]}}, "schema": []}
{"input": "On the other hand, inhibition of STAT1 by genetic or chemical means reverted the hypersensitivity of Fanconi anemia group A lymphoblasts to DNA interstrand crosslinking agents.", "output": {"entities": {"gene": [{"text": "STAT1", "start": 33, "end": 38}], "disease": [{"text": "hypersensitivity", "start": 81, "end": 97}]}, "relations": {}}, "schema": []}
{"input": "However, the frequency, cooccurrence, and clinical value of PDGFRA abnormalities in diffuse gliomas remain unclear.", "output": {"entities": {"gene": [{"text": "PDGFRA", "start": 60, "end": 66}], "disease": [{"text": "abnormalities", "start": 67, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Reversal of cardiomyocyte hypertrophy during LVAD support was accompanied by normalization of ANP, BNP and NPR-C mRNA levels and a significant recovery of GC-A responsiveness to ANP.", "output": {"entities": {"gene": [{"text": "BNP", "start": 99, "end": 102}], "disease": [{"text": "cardiomyocyte hypertrophy", "start": 12, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Most importantly, we discovered that TRRAP harbored a recurrent mutation that clustered in one position (p. Ser722Phe) in 6 out of 167 affected individuals (& #8764; 4%), as well as a previously unidentified gene, GRIN2A, which was mutated in 33% of melanoma samples.", "output": {"entities": {"gene": [{"text": "TRRAP", "start": 37, "end": 42}], "disease": [{"text": "melanoma", "start": 250, "end": 258}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRRAP", "start": 37, "end": 42}, "tail": {"text": "melanoma", "start": 250, "end": 258}}]}}, "schema": []}
{"input": "Drastic Ca2 + sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.", "output": {"entities": {"gene": [{"text": "Ca2", "start": 8, "end": 11}], "disease": [{"text": "restrictive cardiomyopathy", "start": 112, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "All patients had private mutations, including seven new mutations, three previously reported mutations and three sporadic deletions encompassing the NKX2-1 gene.", "output": {"entities": {"gene": [{"text": "NKX2-1 gene", "start": 149, "end": 160}], "disease": [{"text": "sporadic", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "To study the functional consequences of different MCT8 mutations in detail, we combined functional analysis in different cell types with live-cell imaging of the cellular distribution of seven mutations that we identified in patients with AHDS.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 50, "end": 54}], "disease": [{"text": "AHDS", "start": 239, "end": 243}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCT8", "start": 50, "end": 54}, "tail": {"text": "AHDS", "start": 239, "end": 243}}]}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "PSD-93", "start": 198, "end": 204}], "disease": [{"text": "major depression", "start": 120, "end": 136}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PSD-93", "start": 198, "end": 204}, "tail": {"text": "major depression", "start": 120, "end": 136}}]}}, "schema": []}
{"input": "TNF-alpha mRNA was detected in the synovial cells of patients with rheumatoid arthritis (RA) and osteoarthritis (OA) and also in the U937, THP1, and HL60 cell lines.", "output": {"entities": {"gene": [{"text": "THP1", "start": 139, "end": 143}], "disease": [{"text": "osteoarthritis", "start": 97, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Mutations of SLC26A4 are associated with incomplete partition type II (IP-II) and isolated enlargement of the vestibular aqueduct (EVA).", "output": {"entities": {"gene": [{"text": "EVA", "start": 131, "end": 134}], "disease": [{"text": "enlargement", "start": 91, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients.", "output": {"entities": {"gene": [{"text": "lamin A/C", "start": 30, "end": 39}], "disease": [{"text": "DCM", "start": 82, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "lamin A/C", "start": 30, "end": 39}, "tail": {"text": "DCM", "start": 82, "end": 85}}]}}, "schema": []}
{"input": "We have taken advantage of the hamster strain CHF147 that displays progressive cardiomyopathy leading to heart failure to test whether stimulation of a hypertrophic pathway could delay the process of dilatation. Six month old CHF147 hamsters were treated with IGF-1 so that we could compare the efficacy of systemic administration of human recombinant IGF-1 protein (rh IGF-1) at low dose to that of direct myocardial injections of a plasmid DNA containing IGF-1 cDNA (pCMV-IGF1). IGF-1 treatment did not induce a significant variation of ventricle mass, but preserved left ventricular (LV) wall thickness and delayed dilatation of cardiac cavities when compared to non-treated hamsters.", "output": {"entities": {"gene": [{"text": "IGF1", "start": 474, "end": 478}], "disease": [{"text": "dilatation", "start": 200, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Among 127 patients with IgH translocations, 57 were t (11; 14), 36 t (4; 14), 11 musculoaponeurotic fibrosarcoma (MAF) translocations, and 23 other or unknown IgH translocation partner.", "output": {"entities": {"gene": [{"text": "MAF", "start": 114, "end": 117}], "disease": [{"text": "translocation", "start": 28, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "Interestingly, vascular progerin is detectable in lower levels, in an age-related manner, in the general population, providing the basis for further study of the potential role of abnormal forms of lamin A in the atherosclerotic process of normal aging.", "output": {"entities": {"gene": [{"text": "lamin A", "start": 198, "end": 205}], "disease": [{"text": "aging", "start": 247, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Suppression of phosphatase and a tensin homolog deleted on chromosome 10 (PTEN) gene expression leading to activation of the phosphatidylinositol-3-OH kinase (PI3K)/Akt pathway has been observed in many cancers including leukemia, making the PTEN gene and PI3K/Akt pathway a central target for cancer therapy.", "output": {"entities": {"gene": [{"text": "tensin", "start": 33, "end": 39}], "disease": [{"text": "cancers", "start": 203, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "At least, SCC antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, stratifin and galectin 7 are candidates for targeted proteins.", "output": {"entities": {"gene": [{"text": "stratifin", "start": 151, "end": 160}], "disease": [{"text": "SCC", "start": 10, "end": 13}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "stratifin", "start": 151, "end": 160}, "tail": {"text": "SCC", "start": 10, "end": 13}}]}}, "schema": []}
{"input": "The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric patients with CD.", "output": {"entities": {"gene": [{"text": "USP8", "start": 4, "end": 8}], "disease": [{"text": "CD", "start": 105, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "USP8", "start": 4, "end": 8}, "tail": {"text": "CD", "start": 105, "end": 107}}]}}, "schema": []}
{"input": "Increased manganese superoxide dismutase (SOD-2) is part of the mechanism for prostate tumor suppression by Mac25/insulin-like growth factor binding-protein-related protein-1.", "output": {"entities": {"gene": [{"text": "Mac25", "start": 108, "end": 113}], "disease": [{"text": "prostate tumor", "start": 78, "end": 92}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Mac25", "start": 108, "end": 113}, "tail": {"text": "prostate tumor", "start": 78, "end": 92}}]}}, "schema": []}
{"input": "The aim of this study was to investigate a possible association of ABCB11 c. 1331 T > C with hepatitis C virus (HCV) infection and fibrosis stages as assessed by non-invasive transient elastography in a German cohort of patients.", "output": {"entities": {"gene": [{"text": "ABCB11", "start": 67, "end": 73}], "disease": [{"text": "fibrosis", "start": 131, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "In our case-control study, we determined the prevalence of the C609T NQO1 polymorphism by PCR-RFLP analysis in Caucasian patients with oesophageal adenocarcinoma (OAC; n = 61), cardiac adenocarcinoma (CAC; n = 120) or gastric adenocarcinoma (GAC; n = 203) vs. a control group that consisted of 252 healthy blood donors.", "output": {"entities": {"gene": [{"text": "CAC", "start": 201, "end": 204}], "disease": [{"text": "gastric adenocarcinoma", "start": 218, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "p97/VCP aids in the extraction of ubiquitinated proteins from the endoplasmic reticulum (ER) and facilitates their delivery to the proteasome.", "output": {"entities": {"gene": [{"text": "VCP", "start": 4, "end": 7}], "disease": [{"text": "aids", "start": 8, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "Indeed, immunochemical analyses on cells isolated from the ascites and on tumor sections indicated that IL-18BP is expressed in both tumor cells and tumor-associated leukocytes, which displayed a CD3-CD20-NKp46-CD13 + CD14low phenotype.", "output": {"entities": {"gene": [{"text": "CD13", "start": 211, "end": 215}], "disease": [{"text": "ascites", "start": 59, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "To clarify the association between factors regulating DNA methylation and the prognosis of autoimmune thyroid diseases (AITDs), we genotyped single nucleotide polymorphisms in genes encoding DNA methyltransferase 1 (DNMT1), DNMT3A, DNMT3B, methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR), which are enzymes essential for DNA methylation.", "output": {"entities": {"gene": [{"text": "DNMT1", "start": 216, "end": 221}], "disease": [{"text": "thyroid diseases", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.", "output": {"entities": {"gene": [{"text": "BDNF", "start": 33, "end": 37}], "disease": [{"text": "inflammation", "start": 71, "end": 83}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "BDNF", "start": 33, "end": 37}, "tail": {"text": "inflammation", "start": 71, "end": 83}}]}}, "schema": []}
{"input": "Subjects in the initial population included 1402 asymptomatic Amish adults in whom we measured platelet reactivity (n = 788) and coronary artery calcification (CAC) (n = 939).", "output": {"entities": {"gene": [{"text": "CAC", "start": 160, "end": 163}], "disease": [{"text": "coronary artery calcification", "start": 129, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.", "output": {"entities": {"gene": [{"text": "VWF", "start": 275, "end": 278}], "disease": [{"text": "hyperlipidemia", "start": 59, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "The FGF/FGFR/ERK signaling pathway may be a target for therapeutic strategies against uveal melanoma.", "output": {"entities": {"gene": [{"text": "ERK", "start": 13, "end": 16}], "disease": [{"text": "uveal melanoma", "start": 86, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "The 11; 22 chromosomal translocation specifically linked to Ewing sarcoma and primitive neuroectodermal tumor results in a chimeric molecule fusing the amino-terminal-encoding portion of the EWS gene to the carboxyl-terminal DNA-binding domain encoded by the FLI1 gene.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 191, "end": 199}], "disease": [{"text": "chromosomal translocation", "start": 11, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In the same model system, we show that a COOH-terminal truncation mutant of ING4 found in human cancer cells could act alone to induce abnormal gland structures resembling mammary hyperplasia, which did not progress to tumors.", "output": {"entities": {"gene": [{"text": "ING4", "start": 76, "end": 80}], "disease": [{"text": "hyperplasia", "start": 180, "end": 191}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that upregulated expression of IL-2, IL-4, and IFN-gamma may be part of the inflammatory cascade of human acute GVHD, while IL-1 alpha, TNF-alpha, and IL-6 are not discriminatory for the inflammation observed at the time of initial GVHD diagnosis.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 50, "end": 54}], "disease": [{"text": "inflammation", "start": 206, "end": 218}]}, "relations": {}}, "schema": []}
{"input": "Carriage of the PNPLA3 rs738409 C > G polymorphism is not only associated with greater risk of progressive steatohepatitis and fibrosis but also of HCC.", "output": {"entities": {"gene": [{"text": "HCC", "start": 148, "end": 151}], "disease": [{"text": "fibrosis", "start": 127, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In this study we investigated the putative pathophysiological mechanism, by which angiotensin converting enzyme (ACE), and angiotensin II receptor (ATR) type 1 and 2 might contribute to cancer progression and lymph node metastasis in gastric cancer.", "output": {"entities": {"gene": [{"text": "angiotensin converting enzyme", "start": 82, "end": 111}], "disease": [{"text": "metastasis", "start": 220, "end": 230}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "angiotensin converting enzyme", "start": 82, "end": 111}, "tail": {"text": "metastasis", "start": 220, "end": 230}}]}}, "schema": []}
{"input": "Galactocerebrosidase loss leads to the accumulation of psychosine and subsequent oligodendrocyte cell death, demyelination, macrophage recruitment, and astroglial activation and proliferation.", "output": {"entities": {"gene": [{"text": "Galactocerebrosidase", "start": 0, "end": 20}], "disease": [{"text": "demyelination", "start": 109, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "In several genome-wide association studies, nonalcoholic fatty liver disease and alanine aminotransferase susceptibility variants have been identified in several genes, including LYPLAL1, ZP4, GCKR, HSD17B13, PALLD, PPP1R3B, FDFT1, TRIB1, COL13A1, CPN1, ERLIN1, CWF19L1, EFCAB4B, PZP, and NCAN.", "output": {"entities": {"gene": [{"text": "PALLD", "start": 209, "end": 214}], "disease": [{"text": "nonalcoholic fatty liver disease", "start": 44, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "To that end, we examined the expression of p18INK4C by immunohistochemistry in various liver diseases, including 51 HCCs, and also studied the relationship between p18INK4C expression, the phosphorylation of retinoblastoma protein (pRb), and the activity level of Cdk4 and Cdk6.", "output": {"entities": {"gene": [{"text": "Cdk6", "start": 273, "end": 277}], "disease": [{"text": "liver diseases", "start": 87, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "GDH protein expression were also reduced (P & lt; 0. 05) in FGR placentas compared to normal placentas (1. 055 +/-0. 079 vs. 1. 322 +/-0. 053, respectively; mean +/-SE).", "output": {"entities": {"gene": [{"text": "GDH", "start": 0, "end": 3}], "disease": [{"text": "FGR", "start": 60, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDH", "start": 0, "end": 3}, "tail": {"text": "FGR", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel.", "output": {"entities": {"gene": [{"text": "ClC-1", "start": 124, "end": 129}], "disease": [{"text": "abnormalities", "start": 63, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "The human tumor suppressor CEACAM1 modulates apoptosis and is implicated in early colorectal tumorigenesis.", "output": {"entities": {"gene": [{"text": "CEACAM1", "start": 27, "end": 34}], "disease": [{"text": "tumorigenesis", "start": 93, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Using mice deficient in 1 of 4 prostaglandin E2 (PGE2) receptors--specifically, the EP2 receptor--we show that Ep2 (-/-) females are infertile secondary to failure of the released ovum to become fertilized in vivo.", "output": {"entities": {"gene": [{"text": "EP2", "start": 84, "end": 87}], "disease": [{"text": "infertile", "start": 133, "end": 142}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EP2", "start": 84, "end": 87}, "tail": {"text": "infertile", "start": 133, "end": 142}}]}}, "schema": []}
{"input": "Here we set out to test the hypothesis that common variation within the EphB2 locus is associated with increased risk of sporadic PC in AAM.", "output": {"entities": {"gene": [{"text": "EphB2", "start": 72, "end": 77}], "disease": [{"text": "sporadic", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "Expression of specific IGF binding proteins (IGFBPs) by prostate cancer tissues may modulate IGF cellular actions, and possibly determine both IGF-dependent tumor growth and biological aggressiveness in vivo.", "output": {"entities": {"gene": [{"text": "IGF", "start": 23, "end": 26}], "disease": [{"text": "aggressiveness", "start": 185, "end": 199}]}, "relations": {}}, "schema": []}
{"input": "We examined associations of APOL1 with incident albuminuria and kidney function decline among 3030 young adults with preserved GFR in the Coronary Artery Risk Development in Young Adults (CARDIA) study.", "output": {"entities": {"gene": [{"text": "GFR", "start": 127, "end": 130}], "disease": [{"text": "albuminuria", "start": 48, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "Expression of hsp60 was markedly reduced in 2008 xenografts as compared with 2008 cells growing in vitro; however, neither serum starvation nor refeeding altered the message level.", "output": {"entities": {"gene": [{"text": "hsp60", "start": 14, "end": 19}], "disease": [{"text": "starvation", "start": 129, "end": 139}]}, "relations": {}}, "schema": []}
{"input": "Alterations in transcript levels of mitotic spindle kinases such as CHEK1, AURKA, and AURKB were associated with the aneuploid progression pattern, particularly in t (8; 21) cases.", "output": {"entities": {"gene": [{"text": "CHEK1", "start": 68, "end": 73}], "disease": [{"text": "aneuploid", "start": 117, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts.", "output": {"entities": {"gene": [{"text": "Progerin", "start": 0, "end": 8}], "disease": [{"text": "ageing", "start": 52, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that regulation of NRP-1 expression in human gastric cancer is intimately associated with the EGF/EGF-R system.", "output": {"entities": {"gene": [{"text": "NRP", "start": 41, "end": 44}], "disease": [{"text": "gastric cancer", "start": 67, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the possible role of cytokines in human immunodeficiency virus (HIV)-associated muscular disorders, we performed immunocytochemistry for interleukin-1 alpha,-1 beta, and-6 and tumor necrosis factor-alpha on frozen muscle biopsy specimens from HIV-infected patients with various myopathies (HIV polymyositis in 5, HIV-wasting syndrome in 5, zidovudine myopathy in 10) and from seronegative individuals (normal muscle in 2, mitochondrial cytopathies in 10).", "output": {"entities": {"gene": [{"text": "interleukin-1 alpha", "start": 149, "end": 168}], "disease": [{"text": "HIV-wasting syndrome", "start": 325, "end": 345}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interleukin-1 alpha", "start": 149, "end": 168}, "tail": {"text": "HIV-wasting syndrome", "start": 325, "end": 345}}]}}, "schema": []}
{"input": "Activation of NF-κB by SOD2 promotes the aggressiveness of lung adenocarcinoma by modulating NKX2-1-mediated IKKβ expression.", "output": {"entities": {"gene": [{"text": "SOD2", "start": 23, "end": 27}], "disease": [{"text": "aggressiveness", "start": 41, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "LAMA-84 cells retained the patient' s chromosome abnormalities, i. e., triplication of all chromosomes except chromosome 18, the presence of Philadelphia (Ph) chromosome in 4-5 copies, and the presence of chromosome markers.", "output": {"entities": {"gene": [{"text": "LAMA", "start": 0, "end": 4}], "disease": [{"text": "chromosome abnormalities", "start": 38, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "We found that the percentage of B10 cells was reduced in both mice (steady state and inflammatory state) and in humans and that the lower B10 population correlated with an imbalance in the Treg/Th1 ratio in old WASp KO mice with autoimmune colitis.", "output": {"entities": {"gene": [{"text": "B10", "start": 32, "end": 35}], "disease": [{"text": "colitis", "start": 240, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Among the lung and pancreatic cancers, 50-74% showed low TS/high DPD expression.", "output": {"entities": {"gene": [{"text": "DPD", "start": 65, "end": 68}], "disease": [{"text": "pancreatic cancers", "start": 19, "end": 37}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DPD", "start": 65, "end": 68}, "tail": {"text": "pancreatic cancers", "start": 19, "end": 37}}]}}, "schema": []}
{"input": "Peripheral blood CD8 + T cells from mild atopic asthmatic subjects were stimulated in vitro with anti-CD3 and IL-2 +/-excess IL-4 and the expression of activation and adhesion molecules and type 1 and type 2 cytokine production were assessed.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 125, "end": 129}], "disease": [{"text": "mild", "start": 36, "end": 40}]}, "relations": {}}, "schema": []}
{"input": "There was a trend found among the majority of homozygous A and G variants in LEP-2548 G/A and LEPR 668 A/G in over-weight and obese individuals in comparison to normal-weight subjects (CG).", "output": {"entities": {"gene": [{"text": "LEP", "start": 77, "end": 80}], "disease": [{"text": "weight", "start": 115, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.", "output": {"entities": {"gene": [{"text": "DNM1L", "start": 13, "end": 18}], "disease": [{"text": "dominant optic atrophy", "start": 42, "end": 64}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DNM1L", "start": 13, "end": 18}, "tail": {"text": "dominant optic atrophy", "start": 42, "end": 64}}]}}, "schema": []}
{"input": "FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey.", "output": {"entities": {"gene": [{"text": "FSHR", "start": 0, "end": 4}], "disease": [{"text": "infertile", "start": 70, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "By performing systematic biochemical and bioinformatical analyses, we identified two miR-221 targets, HECTD2 and RAB1A, which could mediate the development of CRPC phenotype in multiple prostate cancer cell lines.", "output": {"entities": {"gene": [{"text": "RAB1A", "start": 113, "end": 118}], "disease": [{"text": "prostate cancer", "start": 186, "end": 201}]}, "relations": {}}, "schema": []}
{"input": "The IL-4Ralpha chain and IL-13 promoter polymorphisms are gain-of-function mutations associated with atopy.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 25, "end": 30}], "disease": [{"text": "atopy", "start": 101, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.", "output": {"entities": {"gene": [{"text": "FGFR3", "start": 20, "end": 25}], "disease": [{"text": "CATSHL) syndrome", "start": 80, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGFR3", "start": 20, "end": 25}, "tail": {"text": "CATSHL) syndrome", "start": 80, "end": 96}}]}}, "schema": []}
{"input": "No translocation of the EWS gene was found by FISH and no gross chromosomal gain or loss was detected by CGH.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 24, "end": 32}], "disease": [{"text": "translocation", "start": 3, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "A novel missense mutation (Asn5--& gt; Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.", "output": {"entities": {"gene": [{"text": "LCAT", "start": 86, "end": 90}], "disease": [{"text": "LCAT deficiency", "start": 124, "end": 139}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LCAT", "start": 86, "end": 90}, "tail": {"text": "LCAT deficiency", "start": 124, "end": 139}}]}}, "schema": []}
{"input": "In summary, FRNK represents a novel mechanism to negatively regulate IL-4-mediated inflammation.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 69, "end": 73}], "disease": [{"text": "inflammation", "start": 83, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Due to an important role of Cide-A protein demonstrated in the development of metabolic diseases such as obesity, metabolic syndrome, type 2 diabetes and their vascular complications, CIDE-A gene and protein are potential therapeutic targets in the case of these diseases.", "output": {"entities": {"gene": [{"text": "Cide-A", "start": 28, "end": 34}], "disease": [{"text": "metabolic diseases", "start": 78, "end": 96}]}, "relations": {}}, "schema": []}
{"input": "Mutations within the promoters of either of the γ-globin genes [(G) γ (HBG1) and (A) γ (HBG2)] lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, α2γ2) in the syndrome of hereditary persistence of fetal Hb (HPFH).", "output": {"entities": {"gene": [{"text": "HBG2", "start": 88, "end": 92}], "disease": [{"text": "hemoglobin", "start": 138, "end": 148}]}, "relations": {}}, "schema": []}
{"input": "To determine whether the ocular surface inflammation in uveitis mimics or counteracts intraocular inflammatory pathways by directly comparing T-helper (Th) lymphocytes Th1 and Th2 markers in conjunctival and ciliary body expression in endotoxin-induced uveitis (EIU).", "output": {"entities": {"gene": [{"text": "Th1", "start": 168, "end": 171}], "disease": [{"text": "inflammation", "start": 40, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.", "output": {"entities": {"gene": [{"text": "NF--L", "start": 188, "end": 193}], "disease": [{"text": "bipolar disorder", "start": 85, "end": 101}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NF--L", "start": 188, "end": 193}, "tail": {"text": "bipolar disorder", "start": 85, "end": 101}}]}}, "schema": []}
{"input": "ISS patients with G/A or A/A genotypes of the LEPR Q223R SNP had a significantly higher height velocity (cm/y) than ISS patients with the G/G genotype at 2 years after GH treatment.", "output": {"entities": {"gene": [{"text": "LEPR", "start": 46, "end": 50}], "disease": [{"text": "height", "start": 88, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Mutations in any of the three known causative genes, TGM1, ALOXE3 or ALOX12B, can lead either to NBCIE or LI.", "output": {"entities": {"gene": [{"text": "TGM1", "start": 53, "end": 57}], "disease": [{"text": "NBCIE", "start": 97, "end": 102}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TGM1", "start": 53, "end": 57}, "tail": {"text": "NBCIE", "start": 97, "end": 102}}]}}, "schema": []}
{"input": "Negative correlations were observed in the fibrosis samples of mixed etiology between miR-122 and fibrosis stage and LS values (P < 0. 05), and in the samples of chronic viral hepatitis, between miR-221 and fibrosis stage (P < 0. 01), whereas miR-21 showed positive correlation with ALT values in the samples of autoimmune liver diseases (P < 0. 03).", "output": {"entities": {"gene": [{"text": "miR-21", "start": 243, "end": 249}], "disease": [{"text": "chronic viral hepatitis", "start": 162, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Twin studies demonstrated genetic covariance (pleiotropy, ρ (G)) for CHGA, BMI, and leptin with other metabolic traits (insulin resistance, BP, and CRP).", "output": {"entities": {"gene": [{"text": "CRP", "start": 148, "end": 151}], "disease": [{"text": "insulin resistance", "start": 120, "end": 138}]}, "relations": {}}, "schema": []}
{"input": "At the 6-month follow-up after LAGB, carriers of G-174G IL-6 genotype had lost more weight than G-174C or C-174C genotype (P = 0. 037), and carriers of A-866A uncoupling protein 2 genotype had lost more weight as compared with G-866G (P = 0. 018) and G-866A (P = 0. 035) genotype, respectively.", "output": {"entities": {"gene": [{"text": "uncoupling protein 2", "start": 159, "end": 179}], "disease": [{"text": "weight", "start": 84, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Refined analysis of the CLCA4 association signal among F508del homozygous CF patients who exhibit either no, CFTR-mediated or Ca (2 +)-mediated residual chloride conductance revealed that allele distributions for markers rs11807298-rs113894048-rs6684219 differed significantly among these three patient groups.", "output": {"entities": {"gene": [{"text": "CLCA4", "start": 24, "end": 29}], "disease": [{"text": "CF", "start": 74, "end": 76}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CLCA4", "start": 24, "end": 29}, "tail": {"text": "CF", "start": 74, "end": 76}}]}}, "schema": []}
{"input": "Deletion of IL-33R (ST2) gene in BALB/c mice enhanced tumor necrosis and attenuated tumor growth in 4T1 breast cancer model, which was associated with markedly decreased expression of vascular endothelial growth factor (VEGF) and IL-33 in mammary tumor cells.", "output": {"entities": {"gene": [{"text": "VEGF", "start": 220, "end": 224}], "disease": [{"text": "mammary tumor", "start": 239, "end": 252}]}, "relations": {}}, "schema": []}
{"input": "Moreover, we showed that HIV-1 Nef protein down-modulated LFA-1 expression on T lymphocytes and diminished adhesion and polarization of T lymphocytes and as a result, led to decreased migration across the endothelium.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 58, "end": 63}], "disease": [{"text": "adhesion", "start": 107, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "Recombinant viruses containing an S gene derived from MHV-2 in an MHV-A59 background (Penn98-1 and Penn98-2) exhibited a persistence-positive, demyelination-negative phenotype.", "output": {"entities": {"gene": [{"text": "S gene", "start": 34, "end": 40}], "disease": [{"text": "demyelination", "start": 143, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "We report the detailed expression profile of TRPM2 mRNA within the human central nervous system (CNS) and demonstrate increased TRPM2 mRNA expression at 1 and 4 weeks following ischemic injury in the rat transient middle cerebral artery occlusion (tMCAO) stroke model.", "output": {"entities": {"gene": [{"text": "TRPM2", "start": 45, "end": 50}], "disease": [{"text": "middle cerebral artery occlusion", "start": 214, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "Mechanistically, IP (3) R2-enhanced cardiac hypertrophy following isoproterenol infusion was significantly reduced in the calcineurin-Abeta-null background.", "output": {"entities": {"gene": [{"text": "IP (3) R2", "start": 17, "end": 26}], "disease": [{"text": "cardiac hypertrophy", "start": 36, "end": 55}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "IP (3) R2", "start": 17, "end": 26}, "tail": {"text": "cardiac hypertrophy", "start": 36, "end": 55}}]}}, "schema": []}
{"input": "Forty-seven gliomas were arrayed on a custom version of the Affymetrix HG-U133 + 2. 0 GeneChip, for expression of fourteen senescence-associated genes: CCL2, CCL7, CDKN1A, COPG, CSF2RB, CXCL1, ICAM-1, IGFBP-3, IL-6, IL-8, SAA4, TNFRSF-11B, TNFSF-11 and TP53.", "output": {"entities": {"gene": [{"text": "CSF2RB", "start": 178, "end": 184}], "disease": [{"text": "gliomas", "start": 12, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.", "output": {"entities": {"gene": [{"text": "DAX1", "start": 43, "end": 47}], "disease": [{"text": "X-linked congenital adrenal hypoplasia", "start": 71, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DAX1", "start": 43, "end": 47}, "tail": {"text": "X-linked congenital adrenal hypoplasia", "start": 71, "end": 109}}]}}, "schema": []}
{"input": "The second experiment focused on the effects of Cx32 disruption on metastasis by HCCs induced by administration of DEN and N-nitrosomorpholine.", "output": {"entities": {"gene": [{"text": "Cx32", "start": 48, "end": 52}], "disease": [{"text": "metastasis", "start": 67, "end": 77}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cx32", "start": 48, "end": 52}, "tail": {"text": "metastasis", "start": 67, "end": 77}}]}}, "schema": []}
{"input": "A lack of DNA mismatch repair (MMR) is observed in approximately 20% of sporadic endometrial tumors, but few of these tumors have mutations in MSH2 or MLH1, the two major MMR genes.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 143, "end": 147}], "disease": [{"text": "sporadic", "start": 72, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "These findings provide an important insight into the key role of PTX3 in inflammation-associated osteolytic complications of breast cancer.", "output": {"entities": {"gene": [{"text": "PTX3", "start": 65, "end": 69}], "disease": [{"text": "inflammation", "start": 73, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "The TLR4 Gly allele was not detected at all in a subgroup of non-smoking patients (n = 24).", "output": {"entities": {"gene": [{"text": "TLR4", "start": 4, "end": 8}], "disease": [{"text": "smoking", "start": 65, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.", "output": {"entities": {"gene": [{"text": "ARHGEF10", "start": 94, "end": 102}], "disease": [{"text": "depression", "start": 353, "end": 363}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGEF10", "start": 94, "end": 102}, "tail": {"text": "depression", "start": 353, "end": 363}}]}}, "schema": []}
{"input": "The growth-inhibitory effect of dietary GSPs (0. 5%, w/w) on the NSCLC xenograft tumors was associated with the inhibition of COX-2, PGE (2), and PGE (2) receptors (EP1, EP3, and EP4) in tumors.", "output": {"entities": {"gene": [{"text": "EP1", "start": 165, "end": 168}], "disease": [{"text": "tumors", "start": 81, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "Re-expression of FILIP1L in FILIP1L-low expressing, highly-invasive cancer cell lines resulted in inhibition of cell invasion.", "output": {"entities": {"gene": [{"text": "FILIP1L", "start": 17, "end": 24}], "disease": [{"text": "invasive cancer", "start": 59, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "Mendelian randomization was used to examine potential causality of SHBG on the metabolic measures and insulin resistance.", "output": {"entities": {"gene": [{"text": "SHBG", "start": 67, "end": 71}], "disease": [{"text": "insulin resistance", "start": 102, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Genes deregulated at the DNA and mRNA level included well-known cancer genes partly already linked to melanoma (RAS genes, PTEN, AURKA, MAPK inhibitors Sprouty/Spred), but also novel candidates like SIPA1 (a Rap1GAP).", "output": {"entities": {"gene": [{"text": "SIPA1", "start": 199, "end": 204}], "disease": [{"text": "melanoma", "start": 102, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SIPA1", "start": 199, "end": 204}, "tail": {"text": "melanoma", "start": 102, "end": 110}}]}}, "schema": []}
{"input": "It has been shown that IL-8 is elevated in ovarian cyst fluid, ascites, serum, and tumor tissue from ovarian cancer (OVCA) patients, and increased IL-8 expression correlates with poor prognosis and survival.", "output": {"entities": {"gene": [{"text": "IL-8", "start": 23, "end": 27}], "disease": [{"text": "ascites", "start": 63, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our data indicate that KCa3. 1 channels are involved in the inhibitory effects exerted by the glioma microenvironment on infiltrating M/MΦ, suggesting a possible role as therapeutic targets in glioma.", "output": {"entities": {"gene": [{"text": "KCa3. 1", "start": 23, "end": 30}], "disease": [{"text": "glioma", "start": 94, "end": 100}]}, "relations": {}}, "schema": []}
{"input": "Excessive LBP and CD14 mRNA expression might be associated with enhanced synthesis and release of TNF-alpha stimulated by endotoxin translocation after major burns.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 98, "end": 107}], "disease": [{"text": "translocation", "start": 132, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "MH-induced cardiomyocytes hypertrophy, TRPC up-regulation and enhanced Ca (2 +)-calcineurin signals were inhibited by an HIF-1α specific blocker, SC205346 (30 μM), whereas promoted by HIF-1α overexpression.", "output": {"entities": {"gene": [{"text": "HIF-1α", "start": 121, "end": 127}], "disease": [{"text": "hypertrophy", "start": 26, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).", "output": {"entities": {"gene": [{"text": "MME", "start": 0, "end": 3}], "disease": [{"text": "SCA43", "start": 65, "end": 70}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MME", "start": 0, "end": 3}, "tail": {"text": "SCA43", "start": 65, "end": 70}}]}}, "schema": []}
{"input": "Myotonic dystrophy (MD) is a neuromuscular disorder of autosomal dominant inheritance, which is categorized by 2 main sub-types: type 1 (MD1) and type 2 (MD2).", "output": {"entities": {"gene": [{"text": "MD2", "start": 154, "end": 157}], "disease": [{"text": "neuromuscular disorder", "start": 29, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In conclusion, our genetic, histological, and biochemical findings give further support to an involvement of OMI/HTRA2 in the pathology of AD; however, further studies are needed to clarify the role of this gene in neurodegeneration.", "output": {"entities": {"gene": [{"text": "HTRA2", "start": 113, "end": 118}], "disease": [{"text": "neurodegeneration", "start": 215, "end": 232}]}, "relations": {}}, "schema": []}
{"input": "The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene.", "output": {"entities": {"gene": [{"text": "PBGD", "start": 130, "end": 134}], "disease": [{"text": "AIP", "start": 60, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PBGD", "start": 130, "end": 134}, "tail": {"text": "AIP", "start": 60, "end": 63}}]}}, "schema": []}
{"input": "There was no association between the mother' s PON1 and PON2 genotypes and preterm delivery, and we did not observe an interaction between mothers' and children' s genotypes.", "output": {"entities": {"gene": [{"text": "PON1", "start": 47, "end": 51}], "disease": [{"text": "preterm delivery", "start": 75, "end": 91}]}, "relations": {}}, "schema": []}
{"input": "Consistent with this finding, siRNA-mediated suppression of ALL1/AF4 in SEMK2 cells carrying the t (4; 11) chromosome translocation resulted in down-regulation of EphA7.", "output": {"entities": {"gene": [{"text": "EphA7", "start": 163, "end": 168}], "disease": [{"text": "chromosome translocation", "start": 107, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.", "output": {"entities": {"gene": [{"text": "PARP-1", "start": 20, "end": 26}], "disease": [{"text": "pneumonitis", "start": 235, "end": 246}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PARP-1", "start": 20, "end": 26}, "tail": {"text": "pneumonitis", "start": 235, "end": 246}}]}}, "schema": []}
{"input": "Thirteen patients with idiopathic Parkinson' s disease and \" on-off \" fluctuations on oral levodopa plus dopa decarboxylase inhibitor (DDI) were treated with continuous (24 hour) subcutaneous lisuride infusions together with a reduced dose of levodopa (plus DDI).", "output": {"entities": {"gene": [{"text": "dopa decarboxylase", "start": 105, "end": 123}], "disease": [{"text": "idiopathic Parkinson' s disease", "start": 23, "end": 54}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "dopa decarboxylase", "start": 105, "end": 123}, "tail": {"text": "idiopathic Parkinson' s disease", "start": 23, "end": 54}}]}}, "schema": []}
{"input": "NDG could increase the HVA content in sera (P < 0. 05), meanwhile downregulate the expression of DRD2 mRNA in striatum (P < 0. 05), and inhibit the stereotyped behaviors induced by Apo (P < 0. 01) in TS rats, the same effects with Hal.", "output": {"entities": {"gene": [{"text": "DRD2", "start": 97, "end": 101}], "disease": [{"text": "stereotyped behaviors", "start": 148, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "However, no link between MUC1 overexpression and the presence of bile acids in the reflux has been established so far, and molecular mechanisms regulating MUC1 expression during esophageal carcinogenetic sequence are unknown.", "output": {"entities": {"gene": [{"text": "MUC1", "start": 25, "end": 29}], "disease": [{"text": "reflux", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "The role of p16 (INK4A)/p14 (ARF) and p53 mutations in sporadic glioma provides a strong rationale for investigating germline mutations in these genes as a cause of familial glioma.", "output": {"entities": {"gene": [{"text": "p53", "start": 38, "end": 41}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "In addition, joint effect between γ-H2AX ratio and smoking was observed: smokers who had high γ-H2AX ratio exhibited the highest risk of esophageal adenocarcinoma (OR = 5. 53; 95% CI, 2. 71-11. 25) compared with never smokers with low γ-H2AX ratio.", "output": {"entities": {"gene": [{"text": "H2AX", "start": 36, "end": 40}], "disease": [{"text": "smoking", "start": 51, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Taken together, an interaction between MDM2 SNP 309 and p53 with respect to tumor behaviors (including disease onset, tumor differentiation, LNECS and disease-free survival) was observed in sporadic Taiwanese OSCCs.", "output": {"entities": {"gene": [{"text": "p53", "start": 56, "end": 59}], "disease": [{"text": "sporadic", "start": 190, "end": 198}]}, "relations": {}}, "schema": []}
{"input": "We report here on a case of occlusive stroke at young age and hyperhomocysteinemia with homozygous VN (677C to T) variant in the MTHFR gene as well as homozygous D/D (2756G to A) variant in the MS gene.", "output": {"entities": {"gene": [{"text": "MS gene", "start": 194, "end": 201}], "disease": [{"text": "hyperhomocysteinemia", "start": 62, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "We evaluated the effect of body mass index (BMI) and mutation status of tumor suppressor gene p53 (TP53) on patients with urinary bladder cancer.", "output": {"entities": {"gene": [{"text": "TP53", "start": 99, "end": 103}], "disease": [{"text": "body mass index", "start": 27, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "While TNF enhanced expression of a common restricted set of genes involved in angiogenesis and inflammation in GM-CSF, IFN-γ and IL-10-differentiated macrophages, expression of multiple chemokines and cytokines, including CXCL3, CXCL5, CXCL8, IL6, and IL12B was further augmented in the presence of Ang-1 and Ang-2, via Tie2 activation of JAK/STAT signaling.", "output": {"entities": {"gene": [{"text": "CXCL5", "start": 229, "end": 234}], "disease": [{"text": "inflammation", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Consistent with a functional role for this coordinated program in tumorigenesis, we observe that clinical outcomes are strongly associated with CD36 expression.", "output": {"entities": {"gene": [{"text": "CD36", "start": 144, "end": 148}], "disease": [{"text": "tumorigenesis", "start": 66, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "High-throughput copy number and gene expression data of 36 microsatellite stable sporadic colon cancers resected from patients of a single institution characterized for mutations in APC, KRAS, TP53 and loss of 18q were analyzed.", "output": {"entities": {"gene": [{"text": "TP53", "start": 193, "end": 197}], "disease": [{"text": "sporadic", "start": 81, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Ectopic expression in L mouse fibroblasts (LM cells) of wild-type CLDN14 protein induced the formation of tight junctions, while both the c. 254T & gt; A (p. V85D) mutant, previously identified in a Pakistani family, and the c. 301 G & gt; A (p. G101R) mutant, identified in this study through the screen of 183 Spanish and Greek patients affected with sporadic nonsyndromic deafness, failed to form such junctions.", "output": {"entities": {"gene": [{"text": "CLDN14", "start": 66, "end": 72}], "disease": [{"text": "nonsyndromic deafness", "start": 362, "end": 383}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CLDN14", "start": 66, "end": 72}, "tail": {"text": "nonsyndromic deafness", "start": 362, "end": 383}}]}}, "schema": []}
{"input": "Novel SMAD4 mutation causing Myhre syndrome.", "output": {"entities": {"gene": [{"text": "SMAD4", "start": 6, "end": 11}], "disease": [{"text": "Myhre syndrome", "start": 29, "end": 43}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "SMAD4", "start": 6, "end": 11}, "tail": {"text": "Myhre syndrome", "start": 29, "end": 43}}]}}, "schema": []}
{"input": "We tested the hypothesis that hypoxia is an initial signal that stimulates transcription of Abcc8, the gene encoding SUR1, via activation of hypoxia-inducible factor 1 (HIF1).", "output": {"entities": {"gene": [{"text": "SUR1", "start": 117, "end": 121}], "disease": [{"text": "hypoxia", "start": 30, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "To elucidate the role of SIRT1 in human skin carcinogenesis, we have examined SIRT1 protein expression in 20 cases each of squamous cell carcinoma (SCC), basal cell carcinoma (BCC), Bowen' s disease (BD), and actinic keratosis (AK) by immunohistochemical analysis.", "output": {"entities": {"gene": [{"text": "SIRT1", "start": 25, "end": 30}], "disease": [{"text": "basal cell carcinoma", "start": 154, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Utilizing tissue microarrays composed of normal esophageal squamous mucosa (n = 20), Barrett esophagus (n = 10), low-grade dysplasia (n = 14), high-grade dysplasia (n = 27), adenocarcinoma (n = 59), and node metastases (n = 27), we confirmed differential up-regulation of three proteins (Cdc2/Cdk1, Cdc5, and Igfbp3) in adenocarcinomas and Barrett lesions.", "output": {"entities": {"gene": [{"text": "Igfbp3", "start": 309, "end": 315}], "disease": [{"text": "esophageal", "start": 48, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Our findings indicate that the SNP rs3758549 (C > T substitution) in the Pitx3 gene is a potential risk for sporadic PD, especially early-onset PD in Chinese Han population.", "output": {"entities": {"gene": [{"text": "Pitx3 gene", "start": 73, "end": 83}], "disease": [{"text": "sporadic", "start": 108, "end": 116}]}, "relations": {}}, "schema": []}
{"input": "Increased glucose delivery to embryos, or activation of pathways that are stimulated by high glucose, such as the hexosamine biosynthetic pathway or hypoxia, increase oxidative stress in embryos, inhibit expression of Pax3, a gene that encodes a transcription factor that is required for neural tube closure, and increase neural tube defects.", "output": {"entities": {"gene": [{"text": "Pax3", "start": 218, "end": 222}], "disease": [{"text": "hypoxia", "start": 149, "end": 156}]}, "relations": {}}, "schema": []}
{"input": "Aquaporin-1 (AQP1) is a member of aquaporin family that was previously proven to be involved in myocardial dysfunction; however, the role of AQP1 in myocardial stunning is less clear.", "output": {"entities": {"gene": [{"text": "AQP1", "start": 13, "end": 17}], "disease": [{"text": "myocardial stunning", "start": 149, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.", "output": {"entities": {"gene": [{"text": "MECP2", "start": 71, "end": 76}], "disease": [{"text": "PPM-X syndrome", "start": 93, "end": 107}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MECP2", "start": 71, "end": 76}, "tail": {"text": "PPM-X syndrome", "start": 93, "end": 107}}]}}, "schema": []}
{"input": "Inactivation of the INK4a/ARF locus and p53 in sporadic extrahepatic bile duct cancers and bile tract cancer cell lines.", "output": {"entities": {"gene": [{"text": "p53", "start": 40, "end": 43}], "disease": [{"text": "sporadic", "start": 47, "end": 55}]}, "relations": {}}, "schema": []}
{"input": "While TNF enhanced expression of a common restricted set of genes involved in angiogenesis and inflammation in GM-CSF, IFN-γ and IL-10-differentiated macrophages, expression of multiple chemokines and cytokines, including CXCL3, CXCL5, CXCL8, IL6, and IL12B was further augmented in the presence of Ang-1 and Ang-2, via Tie2 activation of JAK/STAT signaling.", "output": {"entities": {"gene": [{"text": "Tie2", "start": 320, "end": 324}], "disease": [{"text": "inflammation", "start": 95, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "Tumor-specific methylation changes at IGF2 DMR2 were observed in 59% of cancer patients, IGF2 DMR0 in 38%, DIRAS3 DMR in 36%, GRB10 ICR in 23%, PEG3 DMR in 21%, MEST ICR in 19%, H19 ICR in 18%, KvDMR in 8% and SNRPN/SNURF ICR in 4%.", "output": {"entities": {"gene": [{"text": "SNURF", "start": 216, "end": 221}], "disease": [{"text": "cancer", "start": 72, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Similarly, PV-IgG-mediated acantholysis and disruption of Dsg3 localization in HaCaT keratinocytes was partially blocked by TP.", "output": {"entities": {"gene": [{"text": "Dsg3", "start": 58, "end": 62}], "disease": [{"text": "acantholysis", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases.", "output": {"entities": {"gene": [{"text": "KIF22", "start": 84, "end": 89}], "disease": [{"text": "sporadic", "start": 160, "end": 168}]}, "relations": {}}, "schema": []}
{"input": "Interaction between early maternal smoking and variants in TNF and GSTP1 in childhood wheezing.", "output": {"entities": {"gene": [{"text": "TNF", "start": 59, "end": 62}], "disease": [{"text": "smoking", "start": 35, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "TP53 was the most commonly mutated gene, with prevalence similar to that of sporadic colorectal tumors (63% of cases).", "output": {"entities": {"gene": [{"text": "TP53", "start": 0, "end": 4}], "disease": [{"text": "sporadic", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Laser capture microdissection was performed on invasive breast cancer frozen sections from 65 patients undergoing resection with sentinel lymph node (SLN) or level I and II ALN dissection.", "output": {"entities": {"gene": [{"text": "ALN", "start": 173, "end": 176}], "disease": [{"text": "invasive breast cancer", "start": 47, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.", "output": {"entities": {"gene": [{"text": "ESRRB", "start": 8, "end": 13}], "disease": [{"text": "Nonsyndromic Hearing Impairment", "start": 62, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ESRRB", "start": 8, "end": 13}, "tail": {"text": "Nonsyndromic Hearing Impairment", "start": 62, "end": 93}}]}}, "schema": []}
{"input": "Validated secondary reference materials can facilitate global diffusion of the IS without the need to perform sample exchange and improve the accuracy and precision of BCR-ABL1 quantitative measurements, including at low levels of residual disease.", "output": {"entities": {"gene": [{"text": "ABL1", "start": 172, "end": 176}], "disease": [{"text": "residual disease", "start": 231, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "NF-kappa B was present in HUVEC nuclei treated with TNF-alpha, whereas translocation of NF-kappa B to the nucleus was absent in TNF-alpha-treated HUVECs pretreated with PDTC.", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 52, "end": 61}], "disease": [{"text": "translocation", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain IIA, have been recently reported in three syndromes that share the association of macrothrombocytopenia (MTCP) and leukocyte inclusions: the May-Hegglin anomaly and Sebastian and Fechtner syndromes.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 17, "end": 21}], "disease": [{"text": "May-Hegglin anomaly", "start": 216, "end": 235}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 17, "end": 21}, "tail": {"text": "May-Hegglin anomaly", "start": 216, "end": 235}}]}}, "schema": []}
{"input": "These results indicate that PDE4A and PLAT may be susceptibility genes for schizophrenia in the Japanese population.", "output": {"entities": {"gene": [{"text": "PLAT", "start": 38, "end": 42}], "disease": [{"text": "schizophrenia", "start": 75, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PLAT", "start": 38, "end": 42}, "tail": {"text": "schizophrenia", "start": 75, "end": 88}}]}}, "schema": []}
{"input": "Mendelian randomization suggested only minor, if any, causal effects of SHBG on lipid and metabolite measures and insulin resistance (n = 10, 895). Causal effect estimates on type 2 diabetes for 41, 439 cases and 103, 870 controls indicated a causative protective role of SHBG (OR = 0. 83 per 1-SD, 95% CI: 0. 76, 0. 91); however, effects were considerably weaker than observed in meta-analysis of prospective studies [hazard ratio (HR) = 0. 47 per 1-SD, 95% CI: 0. 41, 0. 53].", "output": {"entities": {"gene": [{"text": "SHBG", "start": 72, "end": 76}], "disease": [{"text": "insulin resistance", "start": 114, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "As chromosome 18 is the locus of the ferrochelatase gene, we postulate that this chromosomal deletion led to reduced synthesis of the enzyme in the bone marrow clone, so causing the porphyria.", "output": {"entities": {"gene": [{"text": "ferrochelatase", "start": 37, "end": 51}], "disease": [{"text": "chromosomal deletion", "start": 81, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "However, similar to affected individuals in this family, we identified a history of male and female infertility preceding the onset of pulmonary fibrosis in 11% of TERT and TR mutation carriers (five of 45).", "output": {"entities": {"gene": [{"text": "TERT", "start": 164, "end": 168}], "disease": [{"text": "female infertility", "start": 93, "end": 111}]}, "relations": {}}, "schema": []}
{"input": "Naltrexone dose-dependently reduced orphanin FQ/nociceptin-induced hyperphagia.", "output": {"entities": {"gene": [{"text": "orphanin FQ", "start": 36, "end": 47}], "disease": [{"text": "hyperphagia", "start": 67, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Leber congenital amaurosis (LCA) patients (n = 10) and one patient with a later-onset retinal degeneration (RD) and AIPL1 mutations were studied by ocular examination, retinal imaging, perimetry, full-field sensitivity testing, and pupillometry.", "output": {"entities": {"gene": [{"text": "AIPL1", "start": 116, "end": 121}], "disease": [{"text": "retinal degeneration", "start": 86, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Biochemical, MRI, and neurologic findings were inconsistent with a generalized defect of peroxisomal function and were unique.", "output": {"entities": {"gene": [{"text": "MRI", "start": 13, "end": 16}], "disease": [{"text": "neurologic findings", "start": 22, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "In summary IL13 variants contribute to elevated levels of total serum IgE in young atopic children and are strongly associated with sensitization to food allergens, particularly to hen' s egg.", "output": {"entities": {"gene": [{"text": "IL13", "start": 11, "end": 15}], "disease": [{"text": "atopic", "start": 83, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Clinical severity was found to be correlated with the nature of the mutation, suggesting a distinct strategy for detection of PLP point mutations between severe PMD, mild PMD and SPG.", "output": {"entities": {"gene": [{"text": "SPG", "start": 179, "end": 182}], "disease": [{"text": "mild", "start": 166, "end": 170}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we described 3 ATS-DL cases, 2 familial and 1 sporadic bearing a deletion encompassing the 5'-end of both the COL4A5 and COL4A6 genes, as identified by multiplex ligation-dependent probe amplification (MLPA) analysis.", "output": {"entities": {"gene": [{"text": "COL4A6", "start": 136, "end": 142}], "disease": [{"text": "sporadic", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "This smoking-associated shift of the HPRT mutational spectrum, although not statistically significant, is consistent with the in vitro mutagenicity of benzo (a) pyrene (BaP), a prominent carcinogen of tobacco smoke, and with known differences in the TP53 mutational spectrum in lung tumors of smokers and nonsmokers.", "output": {"entities": {"gene": [{"text": "HPRT", "start": 37, "end": 41}], "disease": [{"text": "smoking", "start": 5, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "MTP-493 G/T polymorphism may impact NASH by modulating postprandial lipemia and lipoprotein metabolism; homozygous GG carriers have a more atherogenic postprandial lipid profile than the other genotypes, independently of adipokines and insulin resistance.", "output": {"entities": {"gene": [{"text": "MTP", "start": 0, "end": 3}], "disease": [{"text": "insulin resistance", "start": 236, "end": 254}]}, "relations": {}}, "schema": []}
{"input": "In over two decades since the discovery of FMR1, only a single missense mutation (p. (Ile304Asn)) has been reported as causing fragile X syndrome.", "output": {"entities": {"gene": [{"text": "FMR1", "start": 43, "end": 47}], "disease": [{"text": "fragile X syndrome", "start": 127, "end": 145}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FMR1", "start": 43, "end": 47}, "tail": {"text": "fragile X syndrome", "start": 127, "end": 145}}]}}, "schema": []}
{"input": "Expression of the inducible HSP70 gene in rat myogenic cells (H9c2) is markedly increased after relatively short periods of hypoxia as well as by heat shock.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 28, "end": 33}], "disease": [{"text": "hypoxia", "start": 124, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The expression of IGFBP1, IGFBP2, IGF2BP3, and HTRA1 genes in U87 glioma cells and its subline with ERN1 signaling enzyme loss of function, were analyzed by qPCR.", "output": {"entities": {"gene": [{"text": "HTRA1", "start": 47, "end": 52}], "disease": [{"text": "glioma", "start": 66, "end": 72}]}, "relations": {}}, "schema": []}
{"input": "Our results show significantly higher (p < 0. 001) expression of CCR9 and CCL25 in serous adenocarcinoma followed by serous papillary cystadenoma, endometrioid adenocarcinoma, mucinous adenocarcinoma, cystadenoma, mucinous boderline adenocarcinoma, clear cell carcinoma, granulosa cell tumor, dysgerminoma, transitional cell carcinoma, Brenner tumor, yolk sac tumor, adenocarcinoma and fibroma cases, compared to non-neoplastic ovarian tissue.", "output": {"entities": {"gene": [{"text": "CCL25", "start": 74, "end": 79}], "disease": [{"text": "endometrioid adenocarcinoma", "start": 147, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "Variant of the beta3-adrenergic receptor gene and coronary atherosclerosis in Japanese subjects.", "output": {"entities": {"gene": [{"text": "beta3", "start": 15, "end": 20}], "disease": [{"text": "coronary atherosclerosis", "start": 50, "end": 74}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that methylation-related silencing of SFN occurs in both normal lung tissues and adenocarcinoma in situ, and that demethylation of the SFN promoter participates in the aberrant expression of SFN in invasive adenocarcinoma cells, independently of p53 alteration.", "output": {"entities": {"gene": [{"text": "SFN", "start": 60, "end": 63}], "disease": [{"text": "adenocarcinoma", "start": 103, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "Based on our microarray data, RXR & #946;, like FABP7, is an adverse prognostic factor for breast cancer.", "output": {"entities": {"gene": [{"text": "FABP7", "start": 48, "end": 53}], "disease": [{"text": "breast cancer", "start": 91, "end": 104}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FABP7", "start": 48, "end": 53}, "tail": {"text": "breast cancer", "start": 91, "end": 104}}]}}, "schema": []}
{"input": "The homologous human FLII gene encodes a 1269-residue protein with 58% amino acid sequence identity and is deleted in Smith-Magenis syndrome.", "output": {"entities": {"gene": [{"text": "FLII", "start": 21, "end": 25}], "disease": [{"text": "Smith-Magenis syndrome", "start": 118, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FLII", "start": 21, "end": 25}, "tail": {"text": "Smith-Magenis syndrome", "start": 118, "end": 140}}]}}, "schema": []}
{"input": "Epidemiological data show that there are PIDs systematically associated with AID, such as immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), Omenn syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune lymphoproliferative syndrome (ALPS), and C1q deficiency, while strong associations are seen with a handful of other deficits.", "output": {"entities": {"gene": [{"text": "AID", "start": 77, "end": 80}], "disease": [{"text": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "start": 187, "end": 249}]}, "relations": {}}, "schema": []}
{"input": "We hypothesized that altered expression of DISC1 and/or its molecular partners (nuclear distribution element-like [NUDEL], fasciculation and elongation protein zeta-i [FEZ1], and lissencephaly 1 [LIS1]) may underlie its pathogenic role in schizophrenia and explain its genetic association.", "output": {"entities": {"gene": [{"text": "FEZ1", "start": 168, "end": 172}], "disease": [{"text": "lissencephaly 1", "start": 179, "end": 194}]}, "relations": {}}, "schema": []}
{"input": "The paradox is that analbuminemia is extremely rare (frequency & lt; 1 x 10 (6)); yet the virtual absence of albumin is tolerable despite its multiple functions.", "output": {"entities": {"gene": [{"text": "albumin", "start": 22, "end": 29}], "disease": [{"text": "analbuminemia", "start": 20, "end": 33}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "albumin", "start": 22, "end": 29}, "tail": {"text": "analbuminemia", "start": 20, "end": 33}}]}}, "schema": []}
{"input": "Niacin therapy attenuated hypertension, proteinuria, and tubulo-interstitial injury, reduced renal tissue lipids, CD36, ChREBP, LXR, ABCA-1, ABCG-1, and SR-B1 abundance and raised PPAR-alpha and L-FABP.", "output": {"entities": {"gene": [{"text": "L-FABP", "start": 195, "end": 201}], "disease": [{"text": "proteinuria", "start": 40, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich' s ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system.", "output": {"entities": {"gene": [{"text": "Sfxn1", "start": 105, "end": 110}], "disease": [{"text": "sideroblastic anemia", "start": 163, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "DNA and RNA analysis of skin lesions revealed the presence of the PML/RAR alpha hybrid gene, which was not detected at the same time in bone marrow.", "output": {"entities": {"gene": [{"text": "RAR", "start": 70, "end": 73}], "disease": [{"text": "skin lesions", "start": 24, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "Four days after 2', 3'-dideoxycytidine administration, rats had developed thermal allodynia as well as mechanical hyperalgesia and allodynia, which dose-dependently decreased after epidural injection of MDL 11, 939, a 5-HT2A receptor antagonist.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 218, "end": 224}], "disease": [{"text": "allodynia", "start": 82, "end": 91}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "5-HT2A", "start": 218, "end": 224}, "tail": {"text": "allodynia", "start": 82, "end": 91}}]}}, "schema": []}
{"input": "The aim of the present study was to investigate the possible association of KCNJ11 E23K polymorphism with incidence of sulfonylurea-induced mild hypoglycemic events.", "output": {"entities": {"gene": [{"text": "KCNJ11", "start": 76, "end": 82}], "disease": [{"text": "mild", "start": 140, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Ability of m-chloroperoxybenzoic acid to induce the ornithine decarboxylase marker of skin tumor promotion and inhibition of this response by gallotannins, oligomeric proanthocyanidins, and their monomeric units in mouse epidermis in vivo.", "output": {"entities": {"gene": [{"text": "ornithine decarboxylase", "start": 52, "end": 75}], "disease": [{"text": "skin tumor", "start": 86, "end": 96}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ornithine decarboxylase", "start": 52, "end": 75}, "tail": {"text": "skin tumor", "start": 86, "end": 96}}]}}, "schema": []}
{"input": "2) A normotensive control group (N-group) consisting of 732 normotensive students (110-124 SBP/60-74mmHg DBP) for whom faculty, age, sex, height, weight, and examination period were matched to the H-group as closely as possible.", "output": {"entities": {"gene": [{"text": "DBP", "start": 105, "end": 108}], "disease": [{"text": "height", "start": 138, "end": 144}]}, "relations": {}}, "schema": []}
{"input": "Because full length PEAII may elicit a host immune response, we tried to identify the minimal PEAII translocation motif and use this fragment in combination with an antibody and constitutively active granzyme B (ImmunoGrB) to kill HER2-positive tumor cells.", "output": {"entities": {"gene": [{"text": "granzyme B", "start": 200, "end": 210}], "disease": [{"text": "translocation", "start": 100, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Our findings reveal a novel association of autoantibodies with DR4 and with arthralgia/synovitis in IIM and raise the possibility of a genetically (DR4) determined citrullination of myositis autoantigens expressed in muscle and synovium.", "output": {"entities": {"gene": [{"text": "DR4", "start": 63, "end": 66}], "disease": [{"text": "myositis", "start": 182, "end": 190}]}, "relations": {}}, "schema": []}
{"input": "Here we describe the cloning of this receptor, designated P2Y12, and provide evidence that a patient with a bleeding disorder has a defect in this gene.", "output": {"entities": {"gene": [{"text": "P2Y12", "start": 58, "end": 63}], "disease": [{"text": "bleeding disorder", "start": 108, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "P2Y12", "start": 58, "end": 63}, "tail": {"text": "bleeding disorder", "start": 108, "end": 125}}]}}, "schema": []}
{"input": "Data from CN surrounding either HCCs or DN, and also nodule-in-nodule lesions, provide evidence supporting a CN--> DN--> HCC progression.", "output": {"entities": {"gene": [{"text": "HCC", "start": 32, "end": 35}], "disease": [{"text": "nodule", "start": 53, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "We analysed several polymorphisms mainly in the promoter region of the inducible NO synthase (NOS2, iNOS) gene and investigated their associations with asthma and/or atopic phenotypes.", "output": {"entities": {"gene": [{"text": "NOS2", "start": 94, "end": 98}], "disease": [{"text": "atopic", "start": 166, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "When BRCA1/2 BCs were compared to triple-negative (TN) sporadic tumours of the studied DDR proteins, BARD1 (p < 0. 001), PARP1 (non-cleaved) (p < 0. 001), and P53 (p = 0. 002) remained significantly different in BRCA1/2 tumours compared with TN BC.", "output": {"entities": {"gene": [{"text": "P53", "start": 159, "end": 162}], "disease": [{"text": "sporadic", "start": 55, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "A subset of endometrial stromal sarcoma harbors t (10; 17) (q23; p13), which results in the genetic fusion between YWHAE and 1 of 2 highly homologous FAM22 family members-FAM22A or FAM22B.", "output": {"entities": {"gene": [{"text": "p13", "start": 65, "end": 68}], "disease": [{"text": "endometrial stromal sarcoma", "start": 12, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "To compare the levels of NKCC1, KCC2, OXSR1, STK39, WNK1, WNK3, and WNK4 transcripts in prefrontal cortex area 9 between subjects with schizophrenia and healthy comparison subjects.", "output": {"entities": {"gene": [{"text": "WNK3", "start": 58, "end": 62}], "disease": [{"text": "schizophrenia", "start": 135, "end": 148}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "WNK3", "start": 58, "end": 62}, "tail": {"text": "schizophrenia", "start": 135, "end": 148}}]}}, "schema": []}
{"input": "We recently reported that downregulated miR-130a in patients with Type 2 diabetes mellitus (DM) results in EPC dysfunction, including increased apoptosis, likely via its target runt-related transcription factor 3 (Runx3).", "output": {"entities": {"gene": [{"text": "Runx3", "start": 214, "end": 219}], "disease": [{"text": "diabetes mellitus", "start": 73, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "Compared to the difference between the caffeine sensitivity of Ca (2 +) release in FDB fibers from YS/+ and WT mice treated with SCR siRNA (EC (50): 1. 1 mM versus 4. 4 mM, respectively), caffeine sensitivity was normalized in FDB fibers from YS/+ mice following 2 (EC (50): 2. 8 mM) and 4 week (EC (50): 6. 6 mM) treatment with YS allele-specific siRNA.", "output": {"entities": {"gene": [{"text": "SCR", "start": 129, "end": 132}], "disease": [{"text": "caffeine", "start": 39, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Neutrophil numbers increased in all but two patients and in an extended urine cytokine/chemokine analysis (31 proteins), the chemoattractants IL-8 and GRO-α, RANTES, Eotaxin-1 and MCP-1, the T cell chemoattractant and antibacterial peptide IP-10, inflammatory regulators IL-1-α and sIL-1RA and the T lymphocyte/dendritic cell product sIL-2Rα were detected and variably increased, compared to sterile samples.", "output": {"entities": {"gene": [{"text": "RANTES", "start": 158, "end": 164}], "disease": [{"text": "sterile", "start": 392, "end": 399}]}, "relations": {}}, "schema": []}
{"input": "A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.", "output": {"entities": {"gene": [{"text": "connexin 43", "start": 57, "end": 68}], "disease": [{"text": "oculodentodigital syndrome", "start": 99, "end": 125}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "connexin 43", "start": 57, "end": 68}, "tail": {"text": "oculodentodigital syndrome", "start": 99, "end": 125}}]}}, "schema": []}
{"input": "With this point in mind, we sought to characterize Ct-OATP1B3 mRNA expression in colon and lung cancer tissues.", "output": {"entities": {"gene": [{"text": "OATP1B3", "start": 54, "end": 61}], "disease": [{"text": "lung cancer", "start": 91, "end": 102}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "OATP1B3", "start": 54, "end": 61}, "tail": {"text": "lung cancer", "start": 91, "end": 102}}]}}, "schema": []}
{"input": "The aim of the present study was to investigate by quantitative real-time polymerase chain reaction (PCR) the mRNA expression of NALP3, its effector molecule apoptosis associated speck-like protein (ASC), its putative antagonist NLRP2 (NLR family, PYD-containing protein 2), IL-1beta and IL-18 (i) in gingival tissues from patients with gingivitis (n = 10), chronic periodontitis (n = 18), generalized aggressive periodontitis (n = 20), as well as in healthy subjects (n = 20), (ii) in vitro in a human monocytic cell line (Mono-Mac-6), in response to P. gingivalis challenge for 6 h. The clinical data indicate that NALP3 and NLRP2, but not ASC, are expressed at significantly higher levels in the three forms of inflammatory periodontal disease compared to health.", "output": {"entities": {"gene": [{"text": "NLRP2", "start": 229, "end": 234}], "disease": [{"text": "aggressive periodontitis", "start": 402, "end": 426}]}, "relations": {}}, "schema": []}
{"input": "Nine genes (ACSL1, BIRC3, CLC, CREM, ELTD1, FGG, S100A9, THBD, and TPD52L1) were progressively and significantly upregulated from controls to nondysplastic UC to UC with neoplasia.", "output": {"entities": {"gene": [{"text": "CLC", "start": 26, "end": 29}], "disease": [{"text": "neoplasia", "start": 170, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "This translocation has recently been characterized, revealing the rearrangement and fusion of the WT1 gene on chromosome 11 to the EWS gene on chromosome 22.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 131, "end": 139}], "disease": [{"text": "translocation", "start": 5, "end": 18}]}, "relations": {}}, "schema": []}
{"input": "No associations were also observed for related plasma markers; high-molecular weight (HMW) adiponectin (P = 0. 510), high-sensitive C-reactive protein (P = 0. 788), resistin (P = 0. 937) and homeostasis of minimal assessment of insulin resistance (P = 0. 634).", "output": {"entities": {"gene": [{"text": "C-reactive protein", "start": 132, "end": 150}], "disease": [{"text": "insulin resistance", "start": 228, "end": 246}]}, "relations": {}}, "schema": []}
{"input": "LOX secreted by hypoxic breast tumor cells accumulates at premetastatic sites, crosslinks collagen IV in the basement membrane, and is essential for CD11b + myeloid cell recruitment.", "output": {"entities": {"gene": [{"text": "LOX", "start": 0, "end": 3}], "disease": [{"text": "hypoxic", "start": 16, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "The H63D and C282Y polymorphisms in the HFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS) through the disruption of iron homeostasis.", "output": {"entities": {"gene": [{"text": "HFE gene", "start": 40, "end": 48}], "disease": [{"text": "sporadic", "start": 87, "end": 95}]}, "relations": {}}, "schema": []}
{"input": "Of these, the role of H-Cad in tumorigenesis was further evaluated.", "output": {"entities": {"gene": [{"text": "H-Cad", "start": 22, "end": 27}], "disease": [{"text": "tumorigenesis", "start": 31, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "This report describes a gene, MCL1, that we isolated from the ML-1 human myeloid leukemia cell line during phorbol ester-induced differentiation along the monocyte/macrophage pathway.", "output": {"entities": {"gene": [{"text": "ML-1", "start": 62, "end": 66}], "disease": [{"text": "myeloid leukemia", "start": 73, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of ErbB2 increased the expression of glycolysis-regulating molecules lactate dehydrogenase A (LDH-A) and heat shock factor 1 (HSF1).", "output": {"entities": {"gene": [{"text": "lactate dehydrogenase A", "start": 84, "end": 107}], "disease": [{"text": "shock", "start": 125, "end": 130}]}, "relations": {}}, "schema": []}
{"input": "We hypothesised that the polymorphisms of the genes encoding for beta1-and the beta2-adrenoceptors may have a role in the pathogenesis of heart failure (HF).", "output": {"entities": {"gene": [{"text": "beta2", "start": 79, "end": 84}], "disease": [{"text": "heart failure", "start": 138, "end": 151}]}, "relations": {}}, "schema": []}
{"input": "When given to sensitized mice before challenge, AHR and eosinophilia were reduced by rSP-D in a dose-dependent manner but not by mutant rSP-D. rSP-D administration resulted in increased levels of interleukin (IL)-10, IL-12, and IFN-gamma in bronchoalveolar lavage fluid and reduced goblet cell hyperplasia.", "output": {"entities": {"gene": [{"text": "IFN", "start": 228, "end": 231}], "disease": [{"text": "hyperplasia", "start": 294, "end": 305}]}, "relations": {}}, "schema": []}
{"input": "There have also been a plenty of active discussion on the roles of RHOA in tumorigenesis, primarily based on gain-and loss-of-function experiments.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 67, "end": 71}], "disease": [{"text": "tumorigenesis", "start": 75, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The purpose of this study was to determine the prevalence of substance use disorders (substance abuse or substance dependence: SA/SD) in a large sample of Bipolar Type I (BPI) patients drawn from the Costa Rican population and to describe the effects of SA/SD on the course of their bipolar disorder.", "output": {"entities": {"gene": [{"text": "BPI", "start": 171, "end": 174}], "disease": [{"text": "substance use disorders", "start": 61, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Resveratrol, which suppressed the PGE (2) generation in both non-ulcerated and ulcerated gastric mucosa, prolonged ulcer healing and this was accompanied by the fall in the GBF at the ulcer margin and a significant increase in plasma IL-1beta and TNFalpha levels.", "output": {"entities": {"gene": [{"text": "GBF", "start": 173, "end": 176}], "disease": [{"text": "fall", "start": 161, "end": 165}]}, "relations": {}}, "schema": []}
{"input": "EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.", "output": {"entities": {"gene": [{"text": "CD34", "start": 18, "end": 22}], "disease": [{"text": "major depression", "start": 201, "end": 217}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CD34", "start": 18, "end": 22}, "tail": {"text": "major depression", "start": 201, "end": 217}}]}}, "schema": []}
{"input": "The prenatal diagnosis (PND) of severe hereditary skin diseases started in the early 1980s using fetal skin biopsy techniques based on ultrastructural and immunohistochemical abnormalities of the fetal skin.", "output": {"entities": {"gene": [{"text": "PND", "start": 24, "end": 27}], "disease": [{"text": "skin diseases", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations.", "output": {"entities": {"gene": [{"text": "MPV17", "start": 180, "end": 185}], "disease": [{"text": "NNH", "start": 62, "end": 65}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MPV17", "start": 180, "end": 185}, "tail": {"text": "NNH", "start": 62, "end": 65}}]}}, "schema": []}
{"input": "These results suggested that an abundant expression of seprase in colorectal cancer tissue is associated with lymph node metastasis.", "output": {"entities": {"gene": [{"text": "seprase", "start": 55, "end": 62}], "disease": [{"text": "lymph node metastasis", "start": 110, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "Autosomal dominant familial AD (FAD), linked to mutations in presenilin (PS1 and PS2) genes or the amyloid precursor protein (APP) gene, shows brain abnormalities (e. g., neurofibrillary tangles, deposits of.-amyloid A., and death of subsets of neurons) similar to those that occur in sporadic AD, the risk of which is enhanced by the presence of one or two copies of apolipoprotein E4 (apoE4) alleles.", "output": {"entities": {"gene": [{"text": "FAD", "start": 32, "end": 35}], "disease": [{"text": "sporadic", "start": 285, "end": 293}]}, "relations": {}}, "schema": []}
{"input": "Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.", "output": {"entities": {"gene": [{"text": "RB1", "start": 44, "end": 47}], "disease": [{"text": "retinoblastoma", "start": 122, "end": 136}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 44, "end": 47}, "tail": {"text": "retinoblastoma", "start": 122, "end": 136}}]}}, "schema": []}
{"input": "Variant NOD2/CARD15 allele was associated with an increased risk for CD (OR (het) = 1. 71, 95% CI = 1. 12-2. 6, P = 0. 0001, OR (two-risk alleles) = 25. 2, 95% CI = 4. 37-8, P < 0. 0001), early disease onset (carrier: 26. 4 years vs non-carrier: 29. 8 years, P = 0. 0006), ileal disease (81. 9% vs 69. 5%, OR = 1. 99, 95% CI = 1. 29-3. 08, P = 0. 02, presence of NOD2/CARD15 and TLR4: 86. 7% vs 64. 8%), stricturing behavior (OR = 1. 69, 95% CI = 1. 13-2. 55, P = 0. 026) and increased need for resection (OR = 1. 71, 95% CI: 1. 13-2. 62, P = 0. 01), but not with duration, extra-intestinal manifestations, familial disease or smoking.", "output": {"entities": {"gene": [{"text": "TLR4", "start": 379, "end": 383}], "disease": [{"text": "smoking", "start": 627, "end": 634}]}, "relations": {}}, "schema": []}
{"input": "This study, the first to evaluate an infectivity-enhanced CRAd in human cancer, shows the feasibility, safety, potential antitumor response, and biological activity of this approach in ovarian cancer.", "output": {"entities": {"gene": [{"text": "CRAd", "start": 58, "end": 62}], "disease": [{"text": "cancer", "start": 72, "end": 78}]}, "relations": {}}, "schema": []}
{"input": "Nociceptin, an endogenous ligand for the opioid receptor-like (ORL-1) G-protein coupled receptor, has been found to inhibit the local axon reflex-mediated neurogenic inflammation by suppressing the release of vasoactive neuropeptides from sensory afferent terminals.", "output": {"entities": {"gene": [{"text": "Nociceptin", "start": 0, "end": 10}], "disease": [{"text": "neurogenic inflammation", "start": 155, "end": 178}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "Nociceptin", "start": 0, "end": 10}, "tail": {"text": "neurogenic inflammation", "start": 155, "end": 178}}]}}, "schema": []}
{"input": "These data directly demonstrate the cooperative roles of these Fbw7 and p53 pathways in restraining cyclin E activity and its associated genome instability.", "output": {"entities": {"gene": [{"text": "cyclin E", "start": 100, "end": 108}], "disease": [{"text": "genome instability", "start": 137, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.", "output": {"entities": {"gene": [{"text": "TITF1", "start": 102, "end": 107}], "disease": [{"text": "drop attacks", "start": 10, "end": 22}]}, "relations": {}}, "schema": []}
{"input": "Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.", "output": {"entities": {"gene": [{"text": "TET1", "start": 10, "end": 14}], "disease": [{"text": "psychosis", "start": 165, "end": 174}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TET1", "start": 10, "end": 14}, "tail": {"text": "psychosis", "start": 165, "end": 174}}]}}, "schema": []}
{"input": "Perhaps most importantly, we found that more than one-third of these carcinomas have potentially targetable genetic alterations, including mutations in BRCA2, PALB2, ATM, BAP1, BRAF and JAK1.", "output": {"entities": {"gene": [{"text": "JAK1", "start": 186, "end": 190}], "disease": [{"text": "carcinomas", "start": 69, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "The present study was aimed at describing expression of innate immunity genes (NOD2, RIP2, & #945;-defensins HD5 and HD6) in inflamed colon and in ileum of children with ulcerative colitis.", "output": {"entities": {"gene": [{"text": "RIP2", "start": 85, "end": 89}], "disease": [{"text": "ulcerative colitis", "start": 170, "end": 188}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "RIP2", "start": 85, "end": 89}, "tail": {"text": "ulcerative colitis", "start": 170, "end": 188}}]}}, "schema": []}
{"input": "The enhanced proteinuria, score of mesangial proliferation, glomerular PCNA positive cells, activities of phosphorylated PI3-K, Akt1 and STAT3, and reduced p27 (kip1) expression were found on day 4 after nephritis induction.", "output": {"entities": {"gene": [{"text": "kip1", "start": 161, "end": 165}], "disease": [{"text": "nephritis", "start": 204, "end": 213}]}, "relations": {}}, "schema": []}
{"input": "We found that FTO in men and MMP2 in women are associated with weight gain over a 10-year follow-up period.", "output": {"entities": {"gene": [{"text": "MMP2", "start": 29, "end": 33}], "disease": [{"text": "weight gain", "start": 63, "end": 74}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MMP2", "start": 29, "end": 33}, "tail": {"text": "weight gain", "start": 63, "end": 74}}]}}, "schema": []}
{"input": "To the best of our knowledge, the ABCA4 c. 5693G & gt; A (p. R1898H) mutation has not been reported in FEVR, and the LRP5 & #160; c. 260T & gt; G (p. I87S) mutation is a novel mutation.", "output": {"entities": {"gene": [{"text": "ABCA4", "start": 34, "end": 39}], "disease": [{"text": "FEVR", "start": 103, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ABCA4", "start": 34, "end": 39}, "tail": {"text": "FEVR", "start": 103, "end": 107}}]}}, "schema": []}
{"input": "We characterized the roles of SnoN in miRNA transcriptional regulation and its effects on cell proliferation using esophageal squamous cell carcinoma (ESCC) cells.", "output": {"entities": {"gene": [{"text": "SnoN", "start": 30, "end": 34}], "disease": [{"text": "esophageal squamous cell carcinoma", "start": 115, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The expression of AGO2 in HCC cells was knocked down with siRNA and restored using recombinant adenovirus expressing Ago2.", "output": {"entities": {"gene": [{"text": "HCC", "start": 26, "end": 29}], "disease": [{"text": "adenovirus", "start": 95, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Using quantitative reverse transcriptase-polymerase chain reaction, we found that the highly polymorphic HLA-DRB1 and nonpolymorphic-DRA mRNA levels were significantly decreased in whole blood from patients with septic shock compared with healthy volunteer both on days 1-3 and 4-10 after the onset of shock.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 105, "end": 113}], "disease": [{"text": "shock", "start": 219, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "This presence was clearly associated with a greater exposure to positive viremia and a poorer CD4 trend over time compared to R5, independent of type and duration of antiretroviral treatment.", "output": {"entities": {"gene": [{"text": "CD4", "start": 94, "end": 97}], "disease": [{"text": "viremia", "start": 73, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.", "output": {"entities": {"gene": [{"text": "EOGT", "start": 13, "end": 17}], "disease": [{"text": "Adams-Oliver syndrome", "start": 75, "end": 96}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EOGT", "start": 13, "end": 17}, "tail": {"text": "Adams-Oliver syndrome", "start": 75, "end": 96}}]}}, "schema": []}
{"input": "The local balance between MMPs and TIMPs is believed to play a major role in extracellular matrix (ECM) remodeling during development and in diseases such as cancer and arthritis.", "output": {"entities": {"gene": [{"text": "ECM", "start": 99, "end": 102}], "disease": [{"text": "arthritis", "start": 169, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Using quantitative proteomic techniques together with microarray chips, we have established comprehensive proteome and transcriptome profiles of the metastatic gastric cancer TMC-1 cells and the noninvasive gastric cancer SC-M1 cell.", "output": {"entities": {"gene": [{"text": "TMC", "start": 175, "end": 178}], "disease": [{"text": "gastric cancer", "start": 160, "end": 174}]}, "relations": {}}, "schema": []}
{"input": "We have assessed TNF (-/-), TNF-R1 (-/-) and TNF-R2 (-/-) mice against C57BL/6 wild-type (WT) mice from 12 weeks of age in order to evaluate measures of spatial memory and learning in the Barnes maze (BM) and Y-maze, as well as other behaviours such as exploration, social interaction, anxiety and depression-like behaviour in a battery of tests.", "output": {"entities": {"gene": [{"text": "TNF-R1", "start": 28, "end": 34}], "disease": [{"text": "depression", "start": 298, "end": 308}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF-R1", "start": 28, "end": 34}, "tail": {"text": "depression", "start": 298, "end": 308}}]}}, "schema": []}
{"input": "The aim of our study is to identify EBP mutation in a unique case of Conradi-H & #252; nermann-Happle syndrome with rare psoriasiform lesions.", "output": {"entities": {"gene": [{"text": "EBP", "start": 36, "end": 39}], "disease": [{"text": "Happle syndrome", "start": 95, "end": 110}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "EBP", "start": 36, "end": 39}, "tail": {"text": "Happle syndrome", "start": 95, "end": 110}}]}}, "schema": []}
{"input": "Many of these silent varieties (beta + thalassemia due to the-101 C--> T mutation; alpha + thalassemia from a deletion or point mutation of an alpha gene; alpha alpha alpha triplication) are quite frequent in the overall group of thalassemias.", "output": {"entities": {"gene": [{"text": "alpha gene", "start": 143, "end": 153}], "disease": [{"text": "beta + thalassemia", "start": 32, "end": 50}]}, "relations": {}}, "schema": []}
{"input": "Very recently, the CYP1B1 codon 432 polymorphism (CYP1B1 * 3) has been identified as a susceptibility factor in smoking-related head-and-neck squamous cell cancer.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 19, "end": 25}], "disease": [{"text": "smoking", "start": 112, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "In this study, we found some evidence for a gene-gene interaction between the XRCC1 codon 194 and XRCC3 codon 241 polymorphisms (P = 0. 09) and some support for a possible gene-gene-smoking three-way interaction (P = 0. 08).", "output": {"entities": {"gene": [{"text": "XRCC1", "start": 78, "end": 83}], "disease": [{"text": "smoking", "start": 182, "end": 189}]}, "relations": {}}, "schema": []}
{"input": "We show for the first time that antibody blockade of PVR or PVRL2 on AML cell lines or primary AML cells or TIGIT blockade on immune cells increases the anti-leukemic effects mediated by PBMCs or purified CD3 & lt; sup & gt; + & lt;/sup & gt; cells in vitro.", "output": {"entities": {"gene": [{"text": "PVR", "start": 53, "end": 56}], "disease": [{"text": "AML", "start": 69, "end": 72}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "PVR", "start": 53, "end": 56}, "tail": {"text": "AML", "start": 69, "end": 72}}]}}, "schema": []}
{"input": "A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.", "output": {"entities": {"gene": [{"text": "NAA10", "start": 27, "end": 32}], "disease": [{"text": "Lenz microphthalmia syndrome", "start": 113, "end": 141}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "NAA10", "start": 27, "end": 32}, "tail": {"text": "Lenz microphthalmia syndrome", "start": 113, "end": 141}}]}}, "schema": []}
{"input": "Numerous GWAS linked loci including BST1 (bone marrow stromal cell antigen 1), PARK16 (parkinson disease 16 susceptibility), GAK (cyclin G associated kinase), and HLA (human leukocyte antigen) have also been identified.", "output": {"entities": {"gene": [{"text": "bone marrow stromal cell antigen 1", "start": 42, "end": 76}], "disease": [{"text": "parkinson disease 16", "start": 87, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "We describe a novel MCT8 mutation (S290F) in 4 generations of a family with Allan-Herndon-Dudley Syndrome.", "output": {"entities": {"gene": [{"text": "MCT8", "start": 20, "end": 24}], "disease": [{"text": "Allan-Herndon-Dudley Syndrome", "start": 76, "end": 105}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MCT8", "start": 20, "end": 24}, "tail": {"text": "Allan-Herndon-Dudley Syndrome", "start": 76, "end": 105}}]}}, "schema": []}
{"input": "Analysis of 10 CRC tissue specimens compared with their normal adjacent tissues revealed that ATP2A2, ELAVL4, hTERT, KCTD2, MUC1, OLFM4, S100B, and TM4SF4 genes were upregulated (gene expression ratio of cancer tissue to paired normal tissue was > 2) by microarray and bioinformatics analysis.", "output": {"entities": {"gene": [{"text": "KCTD2", "start": 117, "end": 122}], "disease": [{"text": "cancer", "start": 204, "end": 210}]}, "relations": {}}, "schema": []}
{"input": "Nucleobindin 2 (NUCB2) has been demonstrated to play critical roles in tumorigenesis and tumor development of breast cancer.", "output": {"entities": {"gene": [{"text": "NUCB2", "start": 16, "end": 21}], "disease": [{"text": "tumorigenesis", "start": 71, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis.", "output": {"entities": {"gene": [{"text": "proto-oncogene BCL3", "start": 70, "end": 89}], "disease": [{"text": "atherosclerosis", "start": 93, "end": 108}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "proto-oncogene BCL3", "start": 70, "end": 89}, "tail": {"text": "atherosclerosis", "start": 93, "end": 108}}]}}, "schema": []}
{"input": "[Study on polymorphism of UCP2 gene in Chengdu simple obesity and normal-weight people and a preliminary investigation of its relationship with gut bacteria].", "output": {"entities": {"gene": [{"text": "UCP2 gene", "start": 26, "end": 35}], "disease": [{"text": "weight", "start": 73, "end": 79}]}, "relations": {}}, "schema": []}
{"input": "After adjustment for age, sex, waist-hip ratio, and mean blood pressure both AdipoR1 and AdipoR2 mRNA remained independent determinants of PWV (R (2) = 0. 35 and R (2) = 0. 57, P < 0. 05).", "output": {"entities": {"gene": [{"text": "AdipoR2", "start": 89, "end": 96}], "disease": [{"text": "mean blood pressure", "start": 52, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "We compared the number, size and histopathological features of the intestinal tumors in the Fabpl (4xat-132) ephrin-A1/Apc (min/+) compound mice with those of the Apc (min/+) mice.", "output": {"entities": {"gene": [{"text": "Fabpl", "start": 92, "end": 97}], "disease": [{"text": "intestinal tumors", "start": 67, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome (LCA-JS) or cerebello-oculo-renal syndrome (CORS) were included.", "output": {"entities": {"gene": [{"text": "CORS", "start": 182, "end": 186}], "disease": [{"text": "cerebello-oculo-renal syndrome", "start": 150, "end": 180}]}, "relations": {}}, "schema": []}
{"input": "The distribution of neoplastic cells in the structure of the bone marrow allowed IVL to be distinguished from bone marrow invasions due to other types of lymphoma.", "output": {"entities": {"gene": [{"text": "IVL", "start": 81, "end": 84}], "disease": [{"text": "lymphoma", "start": 154, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "The present study is to replicate the association of OCTN1 rs1050152 and examine another variant rs272879 with familial and sporadic inflammatory bowel disease (IBD) in a cohort from central Pennsylvania, USA.", "output": {"entities": {"gene": [{"text": "OCTN1", "start": 53, "end": 58}], "disease": [{"text": "sporadic", "start": 124, "end": 132}]}, "relations": {}}, "schema": []}
{"input": "These data implicate MAL as a commonly altered gene in breast cancer with implications for response to chemotherapy.", "output": {"entities": {"gene": [{"text": "MAL", "start": 21, "end": 24}], "disease": [{"text": "breast cancer", "start": 55, "end": 68}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAL", "start": 21, "end": 24}, "tail": {"text": "breast cancer", "start": 55, "end": 68}}]}}, "schema": []}
{"input": "Based on an extensive thermodynamic analysis of the stability of apo-dimer and apo-monomer forms of these mutants, we classify the mutations into the following groups: 70 out of 75 mutations in SOD1 lead to (i) decreased dimer stability, and/or (ii) increased dimer dissociation, compared to wild type, and four mutations lead to (iii) decreased monomer stability compared to wild type.", "output": {"entities": {"gene": [{"text": "SOD1", "start": 194, "end": 198}], "disease": [{"text": "dissociation", "start": 266, "end": 278}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, VAP-1 blockade significantly reduced the expression of inflammation-associated molecules such as tumor necrosis factor (TNF)-alpha, monocyte chemoattractant protein (MCP)-1, and intercellular adhesion molecule (ICAM)-1.", "output": {"entities": {"gene": [{"text": "MCP", "start": 179, "end": 182}], "disease": [{"text": "inflammation", "start": 68, "end": 80}]}, "relations": {}}, "schema": []}
{"input": "NOD2 downregulates colonic inflammation by IRF4-mediated inhibition of K63-linked polyubiquitination of RICK and TRAF6.", "output": {"entities": {"gene": [{"text": "IRF4", "start": 43, "end": 47}], "disease": [{"text": "inflammation", "start": 27, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The patterns of somatic mutation, supported by functional and clinical analyses, strongly indicate that the recurrent NOTCH1, MYD88 and XPO1 mutations are oncogenic changes that contribute to the clinical evolution of the disease.", "output": {"entities": {"gene": [{"text": "MYD88", "start": 126, "end": 131}], "disease": [{"text": "somatic mutation", "start": 16, "end": 32}]}, "relations": {}}, "schema": []}
{"input": "To address this question, we examined bone marrow biopsy specimens in a cohort of 102 patients with mastocytosis using an antibody against HDC.", "output": {"entities": {"gene": [{"text": "HDC", "start": 139, "end": 142}], "disease": [{"text": "mastocytosis", "start": 100, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "Familial hemophagocytic lymphohistiocytosis (FHL) is a rare primary immune disorder defined by mutations in the syntaxin binding protein 2 (STXBP2) alias MUNC18-2.", "output": {"entities": {"gene": [{"text": "MUNC18-2", "start": 154, "end": 162}], "disease": [{"text": "immune disorder", "start": 68, "end": 83}]}, "relations": {}}, "schema": []}
{"input": "Meta-analysis was performed for 17 genetic polymorphisms: apolipoprotein E (ε2, ε3, ε4), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), coagulation factor II (rs1799963]), coagulation factor V (rs6025), coagulation factor VII (rs5742910/rs6046), interleukin-6 (IL-6) (rs1800795), endothelial nitric oxide (rs1800779/rs1799983/rs3918226), fibrinogen β-polypeptide (rs1800790), plasminogen activator inhibitor 1 (rs1799768/rs7242), TNF-β lymphotoxin α precursor (rs1041981), adducin 1 (α) (rs4961), ADRB2 (rs1042714), and tumour necrosis factor α (rs1800629).", "output": {"entities": {"gene": [{"text": "apolipoprotein E", "start": 58, "end": 74}], "disease": [{"text": "fibrinogen", "start": 348, "end": 358}]}, "relations": {}}, "schema": []}
{"input": "As such, we aimed to determine the role of BRCA2 mutations as a risk factor for sporadic and familial pancreatic cancer in Korean patients.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 43, "end": 48}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "The effect of resistance patterns or MBL production on clinical outcomes was investigated by using multivariate Cox regression models.", "output": {"entities": {"gene": [{"text": "MBL", "start": 37, "end": 40}], "disease": [{"text": "regression", "start": 116, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Therefore, there was no clear relation between genotype and phenotype, and the loss of the distal copy of CDY1 does not seem to worsen the phenotype of infertile patients with deletion of the DAZ gene cluster.", "output": {"entities": {"gene": [{"text": "DAZ", "start": 192, "end": 195}], "disease": [{"text": "infertile", "start": 152, "end": 161}]}, "relations": {}}, "schema": []}
{"input": "Higher CRP was additionally associated with lower skeletal muscle density, indicative of greater intramuscular AT (r =-0. 10, P < 0. 05), hyperinsulinemia (r = 0. 12, P < 0. 05), and increased homeostasis model assessment of insulin resistance (HOMA-IR) (r = 0. 17, P < 0. 01).", "output": {"entities": {"gene": [{"text": "CRP", "start": 7, "end": 10}], "disease": [{"text": "insulin resistance", "start": 225, "end": 243}]}, "relations": {}}, "schema": []}
{"input": "Genetically, the tumor shows a characteristic 11; 22 translocation, involving the EWS gene on chromosome 22 and the WT1gene on chromosome 11 to produce an EWS-WT1 fusion gene which generates a chimeric protein functioning as a novel transcription factor that activates expression of target genes such as PDGF-A.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 82, "end": 90}], "disease": [{"text": "translocation", "start": 53, "end": 66}]}, "relations": {}}, "schema": []}
{"input": "The etiology of major depression remains unknown, but dysfunction of serotonergic signaling has long been implicated in the pathophysiology of this disorder. p11 is an S100 family member recently identified as a serotonin 1B [5-hydroxytryptamine 1B (5-HT (1B))] and serotonin 4 (5-HT (4)) receptor-binding protein.", "output": {"entities": {"gene": [{"text": "S100", "start": 168, "end": 172}], "disease": [{"text": "major depression", "start": 16, "end": 32}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "S100", "start": 168, "end": 172}, "tail": {"text": "major depression", "start": 16, "end": 32}}]}}, "schema": []}
{"input": "Although enlargement of the intercellular space is one of the histological characteristics of epithelial dysplasia of oral mucosa, the mode of expression of perlecan is poorly understood in these epithelial lesions.", "output": {"entities": {"gene": [{"text": "perlecan", "start": 157, "end": 165}], "disease": [{"text": "enlargement", "start": 9, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization.", "output": {"entities": {"gene": [{"text": "HCC", "start": 93, "end": 96}], "disease": [{"text": "translocation", "start": 297, "end": 310}]}, "relations": {}}, "schema": []}
{"input": "We have recently isolated TSC-22 (transforming growth factor beta-stimulated clone 22) cDNA as a new anticancer drug (Vesnarinone)-inducible gene in a human salivary gland cancer cell line, TYS.", "output": {"entities": {"gene": [{"text": "clone 22", "start": 77, "end": 85}], "disease": [{"text": "salivary gland cancer", "start": 157, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "Collectively, our data suggest that obesity-associated factors such as NEFA and lipopolysaccharide (LPS) probably adopt this vicious cycle to promote inflammation and insulin resistance.", "output": {"entities": {"gene": [{"text": "NEFA", "start": 71, "end": 75}], "disease": [{"text": "insulin resistance", "start": 167, "end": 185}]}, "relations": {}}, "schema": []}
{"input": "Both proteins are robustly expressed in the SON in VP-and OT-containing neurones, but the abundance of neither changes with dehydration.", "output": {"entities": {"gene": [{"text": "SON", "start": 44, "end": 47}], "disease": [{"text": "dehydration", "start": 124, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "Detection of TMPRSS2 gene deletions and translocations in carcinoma, intraepithelial neoplasia, and normal epithelium of the prostate by direct fluorescence in situ hybridization.", "output": {"entities": {"gene": [{"text": "TMPRSS2 gene", "start": 13, "end": 25}], "disease": [{"text": "intraepithelial neoplasia", "start": 69, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Evidence of a significant association between the presence of a Met allele and violence was found such that men' s violence risk increased by approximately 50% for those with at least one Met allele compared with homozygous Val individuals (DOR = 1. 45; 95% CI = 1. 05-2. 00; z = 2. 37, p = 0. 02).", "output": {"entities": {"gene": [{"text": "DOR", "start": 241, "end": 244}], "disease": [{"text": "violence", "start": 79, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "In this paper we document mild MED in a South African kindred, and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein (COMP) gene causes the condition.", "output": {"entities": {"gene": [{"text": "COMP", "start": 158, "end": 162}], "disease": [{"text": "mild", "start": 26, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "A significant correlation was observed between SRp30c and the GRbeta/GRalpha ratio in control subjects, but not in mood disorder patients.", "output": {"entities": {"gene": [{"text": "SRp30c", "start": 47, "end": 53}], "disease": [{"text": "mood disorder", "start": 115, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "Using this system we focused on three postsynaptic proteins DISC1, TNIK and PSD-93/DLG2 each of which is encoded by a schizophrenia susceptibility gene.", "output": {"entities": {"gene": [{"text": "TNIK", "start": 67, "end": 71}], "disease": [{"text": "schizophrenia", "start": 118, "end": 131}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNIK", "start": 67, "end": 71}, "tail": {"text": "schizophrenia", "start": 118, "end": 131}}]}}, "schema": []}
{"input": "A number of different genes have been shown to be associated with cases of tooth agenesis including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGFA.", "output": {"entities": {"gene": [{"text": "TGFA", "start": 136, "end": 140}], "disease": [{"text": "tooth agenesis", "start": 75, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "Individuals with biallelic TRIP13 or BUB1B mutations have a high risk of embryonal tumors, and here we show that their cells display severe SAC impairment.", "output": {"entities": {"gene": [{"text": "TRIP13", "start": 27, "end": 33}], "disease": [{"text": "embryonal tumors", "start": 73, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TRIP13", "start": 27, "end": 33}, "tail": {"text": "embryonal tumors", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "Recent studies showed that the granulocyte colony-stimulating factor (G-CSF) exerts beneficial effects on heart, liver and kidney injuries induced by different pathological conditions.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 31, "end": 68}], "disease": [{"text": "liver", "start": 113, "end": 118}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 31, "end": 68}, "tail": {"text": "liver", "start": 113, "end": 118}}]}}, "schema": []}
{"input": "In Jewish-Israeli women with sporadic and familial ovarian cancer, p53 or WAF1 polymorphisms do not seem to affect the phenotype.", "output": {"entities": {"gene": [{"text": "p53", "start": 67, "end": 70}], "disease": [{"text": "sporadic", "start": 29, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.", "output": {"entities": {"gene": [{"text": "SGOL1", "start": 98, "end": 103}], "disease": [{"text": "dysrhythmia", "start": 59, "end": 70}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SGOL1", "start": 98, "end": 103}, "tail": {"text": "dysrhythmia", "start": 59, "end": 70}}]}}, "schema": []}
{"input": "These findings indicate that in hypopharyngeal squamous cell carcinoma (HSCC), hypermethylation and down-regulation of death-associated protein kinase-1 (DAPk1) are common events, which are associated with a poor prognosis.", "output": {"entities": {"gene": [{"text": "death-associated protein", "start": 119, "end": 143}], "disease": [{"text": "hypopharyngeal squamous cell carcinoma", "start": 32, "end": 70}]}, "relations": {}}, "schema": []}
{"input": "Our results indicate that (i) CTGF is abundantly present in MDA-231 cells in vitro and in vivo, (ii) its secretion is up-regulated by hypoxia, and (iii) its gene expression is enhanced in MDA-231 cells cultured under hypoxic conditions.", "output": {"entities": {"gene": [{"text": "CTGF", "start": 30, "end": 34}], "disease": [{"text": "hypoxic", "start": 217, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Ecotopic viral integration site 1 (EVI1) regulates multiple cellular processes important for cancer and is a synergistic partner for FOS protein in invasive tumors.", "output": {"entities": {"gene": [{"text": "viral integration site 1", "start": 9, "end": 33}], "disease": [{"text": "cancer", "start": 93, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.", "output": {"entities": {"gene": [{"text": "porphobilinogen deaminase", "start": 55, "end": 80}], "disease": [{"text": "acute intermittent porphyria", "start": 106, "end": 134}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "porphobilinogen deaminase", "start": 55, "end": 80}, "tail": {"text": "acute intermittent porphyria", "start": 106, "end": 134}}]}}, "schema": []}
{"input": "One hundred and twenty unselected patients who underwent curative resection for sporadic colorectal cancer in a three-year period were evaluated for microsatellite instability (MSI) using six microsatellite markers, and for the presence of Fhit and mismatch repair (MMR) proteins (Mlh1 and Msh2) by means of immunostaining.", "output": {"entities": {"gene": [{"text": "Msh2", "start": 290, "end": 294}], "disease": [{"text": "sporadic", "start": 80, "end": 88}]}, "relations": {}}, "schema": []}
{"input": "Here we show that early in adenovirus infection, 4E-BP1 and its related protein 4E-BP2 are phosphorylated and hence inactivated.", "output": {"entities": {"gene": [{"text": "BP1", "start": 52, "end": 55}], "disease": [{"text": "adenovirus infection", "start": 27, "end": 47}]}, "relations": {}}, "schema": []}
{"input": "Cyp 7-/-mice lack a functional cholesterol 7alpha-hydroxylase enzyme and develop cholestasis before up-regulation of 27-hydroxycholesterol 7alpha-hydroxylase activity.", "output": {"entities": {"gene": [{"text": "Cyp 7", "start": 0, "end": 5}], "disease": [{"text": "cholestasis", "start": 81, "end": 92}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cyp 7", "start": 0, "end": 5}, "tail": {"text": "cholestasis", "start": 81, "end": 92}}]}}, "schema": []}
{"input": "Our recent studies established essential and distinct roles for RalA and RalB small GTPase activation in K-Ras mutant pancreatic ductal adenocarcinoma (PDAC) cell line tumorigencity, invasion, and metastasis.", "output": {"entities": {"gene": [{"text": "RalB", "start": 73, "end": 77}], "disease": [{"text": "metastasis", "start": 197, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma.", "output": {"entities": {"gene": [{"text": "SEPT14", "start": 109, "end": 115}], "disease": [{"text": "glioblastoma", "start": 172, "end": 184}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SEPT14", "start": 109, "end": 115}, "tail": {"text": "glioblastoma", "start": 172, "end": 184}}]}}, "schema": []}
{"input": "BRCA1 and BRCA2 mRNA expression in sporadic breast cancers was quantified by a real-time reverse transcriptase-polymerase chain reaction (RT-PCR), and the relationship of their expression with various clinicopathological factors was studied.", "output": {"entities": {"gene": [{"text": "BRCA2", "start": 10, "end": 15}], "disease": [{"text": "sporadic", "start": 35, "end": 43}]}, "relations": {}}, "schema": []}
{"input": "A trend of positive correlation was observed between AQP1-immunopositivity and increasing grade, higher MIB-1LI, increasing contrast-enhancement and more perilesional edema, and elevated MVD with raised AQP1: MVD ratio.", "output": {"entities": {"gene": [{"text": "MIB", "start": 104, "end": 107}], "disease": [{"text": "edema", "start": 167, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients.", "output": {"entities": {"gene": [{"text": "ABCG5", "start": 63, "end": 68}], "disease": [{"text": "sitosterolemia", "start": 98, "end": 112}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ABCG5", "start": 63, "end": 68}, "tail": {"text": "sitosterolemia", "start": 98, "end": 112}}]}}, "schema": []}
{"input": "Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.", "output": {"entities": {"gene": [{"text": "XPD gene", "start": 71, "end": 79}], "disease": [{"text": "adenovirus", "start": 92, "end": 102}]}, "relations": {}}, "schema": []}
{"input": "Patients with myeloproliferative neoplasms (MPN) have an increased risk for thrombosis and bleeding and show a defect in adenosine diphosphate (ADP)-induced platelet aggregation.", "output": {"entities": {"gene": [{"text": "ADP", "start": 144, "end": 147}], "disease": [{"text": "bleeding", "start": 91, "end": 99}]}, "relations": {}}, "schema": []}
{"input": "To investigate, in lymphocytes from HIV-1-infected individuals, the phenotypic expression of various adhesion co-or counter-receptors [lymphocyte function-associated antigen (LFA)-3, LFA-1 and intercellular adhesion molecule (ICAM)-1] involved in providing the co-stimulatory signal through the phospholipase C-gamma pathway in relation to inositol polyphosphate metabolism.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 183, "end": 188}], "disease": [{"text": "adhesion", "start": 101, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "The apoptosis of hepatocytes and fibrosis were suppressed by osm gene therapy.", "output": {"entities": {"gene": [{"text": "osm gene", "start": 61, "end": 69}], "disease": [{"text": "fibrosis", "start": 33, "end": 41}]}, "relations": {}}, "schema": []}
{"input": "These data suggest that CDK4 is a critical downstream target of MEN1-dependent tumor suppression and is required for tumorigenic proliferation in the pituitary and pancreatic islet, whereas CDK2 is dispensable for tumorigenesis in these neuroendocrine cell types.", "output": {"entities": {"gene": [{"text": "CDK2", "start": 190, "end": 194}], "disease": [{"text": "tumorigenesis", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "The translocation occurred in intron 13 of NUP98 and intron 7 of TOP1, as in the three previously reported cases.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 43, "end": 48}], "disease": [{"text": "translocation", "start": 4, "end": 17}]}, "relations": {}}, "schema": []}
{"input": "To study the contribution of mitochondrial defects to Alzheimer disease and schizophrenia, cytochrome-c oxidase (COX) activity and levels of the mtDNA4977 deletion in postmortem brain tissue specimens of patients were compared with those of asymptomatic age-matched controls.", "output": {"entities": {"gene": [{"text": "COX", "start": 113, "end": 116}], "disease": [{"text": "asymptomatic", "start": 241, "end": 253}]}, "relations": {}}, "schema": []}
{"input": "A whole genome expression analysis of peripheral blood mononuclear cells yielded 12 protein-coding genes (ADM, APBB3, CD160, CFD, CITED2, CTSZ, IER5, NFKBIZ, NR4A2, NUCKS1, SERTAD1, TNF) that were differentially expressed between 29 unmedicated depressed patients with a mood disorder (8 bipolar disorder, 21 major depressive disorder) and 24 healthy controls (HCs).", "output": {"entities": {"gene": [{"text": "TNF", "start": 182, "end": 185}], "disease": [{"text": "bipolar disorder", "start": 288, "end": 304}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "TNF", "start": 182, "end": 185}, "tail": {"text": "bipolar disorder", "start": 288, "end": 304}}]}}, "schema": []}
{"input": "Acute pharmacological inhibition of the EGF receptor (EGFR) in adult animals altered acute ethanol sensitivity in both flies and mice and reduced ethanol consumption in a preclinical rat model of alcoholism.", "output": {"entities": {"gene": [{"text": "EGF", "start": 40, "end": 43}], "disease": [{"text": "alcoholism", "start": 196, "end": 206}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "EGF", "start": 40, "end": 43}, "tail": {"text": "alcoholism", "start": 196, "end": 206}}]}}, "schema": []}
{"input": "Oncogenes src, fps, and mos were not expressed in any of the tumors tested but oncogene myc was transcribed in most of the tumors and myc was over-expressed in 3 tumors passaged in nude mice (Ewing sarcoma, large intestine carcinoma and kidney carcinoma) and in primary fibrous histiocytoma.", "output": {"entities": {"gene": [{"text": "oncogene myc", "start": 79, "end": 91}], "disease": [{"text": "fibrous histiocytoma", "start": 270, "end": 290}]}, "relations": {}}, "schema": []}
{"input": "The results suggest that the anti-tic properties of donepezil, nicotine and haloperidol in this paradigm might be due to antagonism of cortical 5-HT2A receptors.", "output": {"entities": {"gene": [{"text": "5-HT2A", "start": 144, "end": 150}], "disease": [{"text": "tic", "start": 34, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "We conducted a case-control association study in 551 ischemic stroke patients and 530 controls to assess the role of NOS1 and NOS3 variants in stroke susceptibility.", "output": {"entities": {"gene": [{"text": "NOS3", "start": 126, "end": 130}], "disease": [{"text": "stroke", "start": 62, "end": 68}]}, "relations": {}}, "schema": []}
{"input": "Nine of 20 colorectal cancer patients, 1 of 13 renal cell carcinoma patients, and 2 of 17 lymphoma patients had a spontaneous CD8 T-cell response toward at least 1 of 6 PAX2 peptide pools.", "output": {"entities": {"gene": [{"text": "PAX2", "start": 169, "end": 173}], "disease": [{"text": "lymphoma", "start": 90, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "We measured gremlin 1 (GREM1) gene expression in GC' s from infertile women < 38 years undergoing in vitro fertilization in the context of DOR.", "output": {"entities": {"gene": [{"text": "GREM1", "start": 23, "end": 28}], "disease": [{"text": "infertile", "start": 60, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism.", "output": {"entities": {"gene": [{"text": "POC1A", "start": 117, "end": 122}], "disease": [{"text": "skeletal dysplasia", "start": 51, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "We describe three mutations of the red-cell anion exchangerband 3 (AE1, SLC4A1) gene associated with distalrenal tubular acidosis (dRTA) in families from Malaysia and Papua NewGuinea: Gly (701)--> Asp (G701D), Ala (858)--> Asp (A858D) and deletion of Val (850) (DeltaV850).", "output": {"entities": {"gene": [{"text": "SLC4A1", "start": 72, "end": 78}], "disease": [{"text": "acidosis", "start": 121, "end": 129}]}, "relations": {}}, "schema": []}
{"input": "The lack of a direct association between SELE rs5355C > T gene polymorphism, serum PAPP-A level and IMT suggests that their hypothesized association with carotid atherosclerosis might reflect an indirect mechanism of SELE rs5355C > T gene polymorphism and serum PAPP-A with cardiovascular risk factors such as blood pressure and HDL-C rather than a direct effect on the vasculature.", "output": {"entities": {"gene": [{"text": "T gene", "start": 56, "end": 62}], "disease": [{"text": "blood pressure", "start": 310, "end": 324}]}, "relations": {}}, "schema": []}
{"input": "It also led to an elevated expression of heat shock protein 70 (HSP70) and transcription factor Sp1, and increased the binding of transcription factors Sp1 and heat shock transcription factor 1 (HSF1) to the MICA/B promoter, resulting in increased expression of MICA and MICB.", "output": {"entities": {"gene": [{"text": "HSP70", "start": 64, "end": 69}], "disease": [{"text": "shock", "start": 46, "end": 51}]}, "relations": {}}, "schema": []}
{"input": "The variable number tandem repeat (VNTR) polymorphism 5-repeat allele of the circadian gene PERIOD3 (PER3 (5/5)) has been associated with cognitive decline at a specific circadian phase in response to a night of total sleep deprivation (TSD), relative to the 4-repeat allele (PER3 (4/4)).", "output": {"entities": {"gene": [{"text": "PER3", "start": 101, "end": 105}], "disease": [{"text": "sleep deprivation", "start": 218, "end": 235}]}, "relations": {}}, "schema": []}
{"input": "We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A.", "output": {"entities": {"gene": [{"text": "SMC1A", "start": 183, "end": 188}], "disease": [{"text": "epileptic encephalopathy", "start": 94, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SMC1A", "start": 183, "end": 188}, "tail": {"text": "epileptic encephalopathy", "start": 94, "end": 118}}]}}, "schema": []}
{"input": "Molecular analysis of CDKN1C and TP53 in sporadic adrenal tumors.", "output": {"entities": {"gene": [{"text": "TP53", "start": 33, "end": 37}], "disease": [{"text": "sporadic", "start": 41, "end": 49}]}, "relations": {}}, "schema": []}
{"input": "In the present review, we update these topics and discuss the concept of targeting peripheral MOR pathway for the treatment of insulin resistance.", "output": {"entities": {"gene": [{"text": "MOR", "start": 94, "end": 97}], "disease": [{"text": "insulin resistance", "start": 127, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "Hardy-Weinberg equilibrium test, Person chis-square test, linkage disequilibrium analysis, and logistic analysis were performed by SAS 9. 1 software to determine the association between polymorphisms of TRPV1 and susceptibility of childhood asthma.", "output": {"entities": {"gene": [{"text": "SAS", "start": 131, "end": 134}], "disease": [{"text": "childhood asthma", "start": 231, "end": 247}]}, "relations": {}}, "schema": []}
{"input": "Anti-beta (2)-GPI antibody binding has been shown to induce nuclear factor-kappa B (NF-kappa B) translocation leading to a proinflammatory EC phenotype similar to that elicited by interaction with microbial products (lipopolysaccharide [LPS]) and proinflammatory cytokines (interleukin 1 beta [IL-1 beta], tumor necrosis factor alpha [TNF-alpha]).", "output": {"entities": {"gene": [{"text": "TNF-alpha", "start": 335, "end": 344}], "disease": [{"text": "translocation", "start": 96, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "A severely mentally and motor retarded girl with monosomy 3pter--p25 and trisomy 8q24-qter due to a familial reciprocal translocation t (3; 8) (p25; q24): We report a familial translocation t (3; 8) in a three generation family that includes a severely retarded 9-year-old girl with intrauterine and postnatal growth retardation, microcephaly, capillary hemangiomas of the forehead and perioral region, synophrys, ptosis, long philtrum, high arched palate, micrognathia, malformed ears, clinodactyly, hypotonia, mental and motor retardation.", "output": {"entities": {"gene": [{"text": "p25", "start": 65, "end": 68}], "disease": [{"text": "hypotonia", "start": 501, "end": 510}]}, "relations": {}}, "schema": []}
{"input": "Screening for the APP 717 Val--> Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer' s disease (FAD), 16 sporadic cases of Alzheimer' s disease and five patients with Down' s syndrome (DS) failed to identify further cases of the mutation.", "output": {"entities": {"gene": [{"text": "FAD", "start": 149, "end": 152}], "disease": [{"text": "sporadic", "start": 158, "end": 166}]}, "relations": {}}, "schema": []}
{"input": "A variant in the LRRFIP1 gene is associated with adiposity and inflammation.", "output": {"entities": {"gene": [{"text": "LRRFIP1 gene", "start": 17, "end": 29}], "disease": [{"text": "inflammation", "start": 63, "end": 75}]}, "relations": {}}, "schema": []}
{"input": "We recently identified that MSH2, a key DNA mismatch repair (MMR) protein integral to the suppression of tumorigenesis, is an NPM-ALK-interacting protein.", "output": {"entities": {"gene": [{"text": "MMR", "start": 61, "end": 64}], "disease": [{"text": "tumorigenesis", "start": 105, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "While the deletions from the families nearly spanned the WS region, none had a deletion of FKBP6 or GTF2I, suggesting that the mental retardation seen in WS is associated with deletion of either the centromeric and/or telomeric portions of the region.", "output": {"entities": {"gene": [{"text": "FKBP6", "start": 91, "end": 96}], "disease": [{"text": "mental retardation", "start": 127, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "We evaluated six cases of hidradenocarcinoma histologically and immunohistochemically using antibodies to gross cystic disease fluid protein-15 (GCDFP-15), carcino-embryonic antigen (CEA), epithelial membrane antigen (EMA), S-100 protein, keratin AE1/3, cytokeratin 5/6, p53, bcl-1, bcl-2, and Ki67.", "output": {"entities": {"gene": [{"text": "epithelial membrane antigen", "start": 189, "end": 216}], "disease": [{"text": "hidradenocarcinoma", "start": 26, "end": 44}]}, "relations": {}}, "schema": []}
{"input": "We finally demonstrate that the family prototype, Ets-1, regulates the family members Elf-1, Elf-2, Elk-1, Etv-5 and Spi-1 in PC3 prostate cancer cells.", "output": {"entities": {"gene": [{"text": "Spi-1", "start": 117, "end": 122}], "disease": [{"text": "prostate cancer", "start": 130, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "To identify mutations in LPAR6 and LIPH genes in 17 consanguineous Pakistani families showing features of hypotrichosis/woolly hair.", "output": {"entities": {"gene": [{"text": "LIPH", "start": 35, "end": 39}], "disease": [{"text": "woolly hair", "start": 120, "end": 131}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LIPH", "start": 35, "end": 39}, "tail": {"text": "woolly hair", "start": 120, "end": 131}}]}}, "schema": []}
{"input": "Our findings have important implications for genetic counseling to monilethrix patients and families, and suggest that DSG4-associated hair disorders may be more common than previously thought.", "output": {"entities": {"gene": [{"text": "DSG4", "start": 119, "end": 123}], "disease": [{"text": "monilethrix", "start": 67, "end": 78}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "DSG4", "start": 119, "end": 123}, "tail": {"text": "monilethrix", "start": 67, "end": 78}}]}}, "schema": []}
{"input": "Significant association of the TGF-beta (codon 25) GG genotype with hyperuricemia (P = 0. 0013) and dyslipoproteinemia (P = 0. 0171) was found.", "output": {"entities": {"gene": [{"text": "TGF-beta", "start": 31, "end": 39}], "disease": [{"text": "hyperuricemia", "start": 68, "end": 81}]}, "relations": {}}, "schema": []}
{"input": "Urinary biomarkers in hexachloro-1: 3-butadiene-induced acute kidney injury in the female Hanover Wistar rat; correlation of & #945;-glutathione S-transferase, albumin and kidney injury molecule-1 with histopathology and gene expression.", "output": {"entities": {"gene": [{"text": "albumin", "start": 160, "end": 167}], "disease": [{"text": "acute kidney injury", "start": 56, "end": 75}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "albumin", "start": 160, "end": 167}, "tail": {"text": "acute kidney injury", "start": 56, "end": 75}}]}}, "schema": []}
{"input": "Thus, IL28B testing and closer follow-up of HTLV-1 asymptomatic CT/TT carriers is warranted.", "output": {"entities": {"gene": [{"text": "IL28B", "start": 6, "end": 11}], "disease": [{"text": "asymptomatic", "start": 51, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "However, TBP-2 mRNA levels in the endometrium were lower, and the TRX to TBP-2 ratio was higher in patients with endometriosis than in the control group.", "output": {"entities": {"gene": [{"text": "TBP", "start": 9, "end": 12}], "disease": [{"text": "endometriosis", "start": 113, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "Targeting S6K1 and/or Arg-II may decelerate vascular aging and age-associated cardiovascular disease development.", "output": {"entities": {"gene": [{"text": "S6K1", "start": 10, "end": 14}], "disease": [{"text": "aging", "start": 53, "end": 58}]}, "relations": {}}, "schema": []}
{"input": "Siah-1 binds the brain-enriched E2 ubiquitin-conjugating enzyme UbcH8 and facilitates mono-and di-ubiquitination of alpha-synuclein in vivo.", "output": {"entities": {"gene": [{"text": "alpha-synuclein", "start": 116, "end": 131}], "disease": [{"text": "mono", "start": 86, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "In contrast, hypoxia induced LOX-transcription, and interestingly, hypoxia-dependent LOX-secretion could be counteracted by patupilone.", "output": {"entities": {"gene": [{"text": "LOX", "start": 29, "end": 32}], "disease": [{"text": "hypoxia", "start": 13, "end": 20}]}, "relations": {}}, "schema": []}
{"input": "Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.", "output": {"entities": {"gene": [{"text": "TRPM4", "start": 40, "end": 45}], "disease": [{"text": "progressive familial heart block", "start": 71, "end": 103}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TRPM4", "start": 40, "end": 45}, "tail": {"text": "progressive familial heart block", "start": 71, "end": 103}}]}}, "schema": []}
{"input": "The authors describe the clinical course over 6 years of care at their institution and diagnostic studies including electroencephalogram (EEG), brain magnetic resonance imaging (MRI), serum and cerebrospinal fluid analyses, skeletal muscle biopsy histology, and autopsy gross and histologic findings, which include features shared with Alpers-Huttenlocher syndrome, Leigh syndrome, and a previously published case of FARS2 mutation associated infantile onset disease.", "output": {"entities": {"gene": [{"text": "FARS2", "start": 417, "end": 422}], "disease": [{"text": "Leigh syndrome", "start": 366, "end": 380}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FARS2", "start": 417, "end": 422}, "tail": {"text": "Leigh syndrome", "start": 366, "end": 380}}]}}, "schema": []}
{"input": "Considering the significantly high cost of determining the mutational status of TET2 in patient samples by using conventional sequencing methods and sometimes the lack of regular use of SNP/aCGH array methodologies, FISH for the detection of TET2 abnormalities may become a potentially useful clinical tool.", "output": {"entities": {"gene": [{"text": "TET2", "start": 80, "end": 84}], "disease": [{"text": "abnormalities", "start": 247, "end": 260}]}, "relations": {}}, "schema": []}
{"input": "(i) To characterize the polymorphism of arginase 1 (ARG1), a new candidate gene in coronary heart disease (CHD), in the Algerian population; (ii) To evaluate the effect of common ARG1 single nucleotide polymorphisms (SNPs) on blood pressure (BP) values; and (iii) To compare the data with those previously obtained in French populations.", "output": {"entities": {"gene": [{"text": "ARG1", "start": 52, "end": 56}], "disease": [{"text": "blood pressure", "start": 226, "end": 240}]}, "relations": {}}, "schema": []}
{"input": "Thus, GAL and its receptor GALR3 are differentially methylated and expressed in brains of MDD subjects in a region-and sex-specific manner.", "output": {"entities": {"gene": [{"text": "GAL", "start": 6, "end": 9}], "disease": [{"text": "MDD", "start": 90, "end": 93}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GAL", "start": 6, "end": 9}, "tail": {"text": "MDD", "start": 90, "end": 93}}]}}, "schema": []}
{"input": "In all participants, ApoE gene genotype was determined and spinal bone mineral density (BMD) as well as biochemical bone markers were measured.", "output": {"entities": {"gene": [{"text": "ApoE gene", "start": 21, "end": 30}], "disease": [{"text": "bone mineral density", "start": 66, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "This review focuses on the roles of the APC and MMR genes in tumor development and the work that has been done to relate different variants in each gene to functional aberrations and ultimately tumorigenesis.", "output": {"entities": {"gene": [{"text": "MMR", "start": 48, "end": 51}], "disease": [{"text": "tumorigenesis", "start": 194, "end": 207}]}, "relations": {}}, "schema": []}
{"input": "Our results suggest that NPS receptors may be an important target for drug abuse research and treatment and that CRF (1) mediates the cocaine-seeking and locomotor stimulant effects of NPS, but not its effects on anxiety-like behavior.", "output": {"entities": {"gene": [{"text": "NPS", "start": 25, "end": 28}], "disease": [{"text": "anxiety", "start": 213, "end": 220}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "NPS", "start": 25, "end": 28}, "tail": {"text": "anxiety", "start": 213, "end": 220}}]}}, "schema": []}
{"input": "Based on the HD OCT findings, we hypothesize that early changes in vitelliform macular dystrophy involve the layer between the RPE and the IS/OS interface, first with accumulation of material beneath the sensory retina, and then with disruption and attenuation of IS and OS; late changes seem to affect the RPE, which undergoes hypertrophy, disruption, and attenuation.", "output": {"entities": {"gene": [{"text": "OCT", "start": 16, "end": 19}], "disease": [{"text": "hypertrophy", "start": 328, "end": 339}]}, "relations": {}}, "schema": []}
{"input": "Taken together, our results suggest an important role of hypoxia in modulating the APP processing by facilitating both beta-and gamma-cleavage which may result in a significant increase of Abeta generation.", "output": {"entities": {"gene": [{"text": "APP", "start": 83, "end": 86}], "disease": [{"text": "hypoxia", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "Overexpression of DJ-1 in normal endometrial epithelial cells increases the adhesion on collagen type IV.", "output": {"entities": {"gene": [{"text": "DJ-1", "start": 18, "end": 22}], "disease": [{"text": "adhesion", "start": 76, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "The decrease in systolic blood pressure and diastolic blood pressure after six weeks of treatment of the patients carrying TT genotype (SBP = 26 ± 17. 4 mmHg, DBP = 14. 83 ± 7. 6 mmHg) were greater than the groups carrying MT (SBP = 3. 0 ± 7. 8 mmHg, DBP = 6. 2 ± 3. 0 mmHg) and MM genotypes (SBP = 1. 2 ± 0. 8 mmHg, DBP = 0. 10 ± 12. 1 mm Hg.", "output": {"entities": {"gene": [{"text": "DBP", "start": 159, "end": 162}], "disease": [{"text": "systolic blood pressure", "start": 16, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "Survival analysis showed that HLA-DQB1 * 06 allele was a protective factor and HLA-DRB1 * 08 allele was a risk factor for affecting pneumoconiosis latent period.", "output": {"entities": {"gene": [{"text": "HLA-DRB1", "start": 79, "end": 87}], "disease": [{"text": "pneumoconiosis", "start": 132, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "We examined the effect of a history of asthma/atopy among 132 lung cancer cases (of which 72% were adenocarcinomas) and 163 controls, all of whom were non-smoking Chinese women, in combination with a single nucleotide polymorphism (-634C/G) in the interleukin-6 (IL-6) gene which regulates secretion of a pro-inflammatory cytokine found to be predominant in lung tumour tissue.", "output": {"entities": {"gene": [{"text": "IL-6", "start": 263, "end": 267}], "disease": [{"text": "smoking", "start": 155, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.", "output": {"entities": {"gene": [{"text": "HCC", "start": 242, "end": 245}], "disease": [{"text": "chronic hepatitis", "start": 250, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.", "output": {"entities": {"gene": [{"text": "MYH9", "start": 11, "end": 15}], "disease": [{"text": "May-Hegglin anomaly", "start": 90, "end": 109}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "MYH9", "start": 11, "end": 15}, "tail": {"text": "May-Hegglin anomaly", "start": 90, "end": 109}}]}}, "schema": []}
{"input": "This SRC-3 overexpression frequency was similar to the overexpression frequency observed for squamous cell carcinoma and adenocarcinoma (82. 1% vs 90%) and for metastasis and non-metastasis patients (84. 6% vs 85. 7%).", "output": {"entities": {"gene": [{"text": "SRC-3", "start": 5, "end": 10}], "disease": [{"text": "squamous cell carcinoma", "start": 93, "end": 116}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SRC-3", "start": 5, "end": 10}, "tail": {"text": "squamous cell carcinoma", "start": 93, "end": 116}}]}}, "schema": []}
{"input": "Up-regulation of SETDB1 was significantly associated with HCC disease progression, cancer aggressiveness, and poorer prognosis of HCC patients.", "output": {"entities": {"gene": [{"text": "HCC", "start": 58, "end": 61}], "disease": [{"text": "aggressiveness", "start": 90, "end": 104}]}, "relations": {}}, "schema": []}
{"input": "We used tetraethylammonium (TEA), a nonselective antagonist of big conductance K (+) channels, to block K (+) channels in glioma cells, and antioxidant N-acetyl-l-cysteine (NAC) to inhibit production of intracellular reactive oxygen species (ROS).", "output": {"entities": {"gene": [{"text": "NAC", "start": 173, "end": 176}], "disease": [{"text": "glioma", "start": 122, "end": 128}]}, "relations": {}}, "schema": []}
{"input": "The frequencies of the SLCO1B1 521TT genotype were significantly higher in the ulcer group (p = 0. 006) compared to the controls.", "output": {"entities": {"gene": [{"text": "SLCO1B1", "start": 23, "end": 30}], "disease": [{"text": "ulcer", "start": 79, "end": 84}]}, "relations": {}}, "schema": []}
{"input": "Several studies have reported that changes in interferon-gamma (IFN-& #947;) may play an important role in the development of BD.", "output": {"entities": {"gene": [{"text": "interferon-gamma", "start": 46, "end": 62}], "disease": [{"text": "BD", "start": 126, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "interferon-gamma", "start": 46, "end": 62}, "tail": {"text": "BD", "start": 126, "end": 128}}]}}, "schema": []}
{"input": "There was no significant difference observed in the allelic and genotypic distribution between the BPAD and control groups for cPLA2 (genotype: chi2 = 0. 8, 2df, p = 0. 6; allele chi2 = 0, 1df, p = 0. 9), iPLA2 (genotype: chi2 = 1. 7, 2df, p = 0. 4; allele: chi2 = 0. 3, 1df, p = 0. 6), and sPLA2 (allele: chi2 = 3. 6, 6df, p = 0. 8).", "output": {"entities": {"gene": [{"text": "sPLA2", "start": 291, "end": 296}], "disease": [{"text": "BPAD", "start": 99, "end": 103}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "sPLA2", "start": 291, "end": 296}, "tail": {"text": "BPAD", "start": 99, "end": 103}}]}}, "schema": []}
{"input": "With the use of split signal DNA probes, 1 case showed a trisomy of the BCL2 locus and another displayed BCL6 and IGH breakpoints that would suggest a t (3; 14).", "output": {"entities": {"gene": [{"text": "BCL6", "start": 105, "end": 109}], "disease": [{"text": "trisomy", "start": 57, "end": 64}]}, "relations": {}}, "schema": []}
{"input": "The E3 ubiquitin ligase Siah2 has been implicated in the regulation of the hypoxia response, as well as in the control of Ras, JNK/p38/NF-kappaB signaling pathways.", "output": {"entities": {"gene": [{"text": "E3 ubiquitin ligase", "start": 4, "end": 23}], "disease": [{"text": "hypoxia", "start": 75, "end": 82}]}, "relations": {}}, "schema": []}
{"input": "L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 52, "end": 61}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 88, "end": 126}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 52, "end": 61}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 88, "end": 126}}]}}, "schema": []}
{"input": "We also found that GSTP1 Ile105Val might modify the association between intake of poultry cooked with high temperature methods and CRC risk (p = 0. 0035), a finding that was stronger among rectal cancer cases.", "output": {"entities": {"gene": [{"text": "GSTP1", "start": 19, "end": 24}], "disease": [{"text": "high temperature", "start": 102, "end": 118}]}, "relations": {}}, "schema": []}
{"input": "Taken together our data show that both NO and capsaicin-sensitive afferent neurons are involved in PAR-2-mediated colonic inflammation and paracellular permeability increase.", "output": {"entities": {"gene": [{"text": "PAR-2", "start": 99, "end": 104}], "disease": [{"text": "inflammation", "start": 122, "end": 134}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PAR-2", "start": 99, "end": 104}, "tail": {"text": "inflammation", "start": 122, "end": 134}}]}}, "schema": []}
{"input": "We found elevated intrahepatic mRNA expression of all three chemokines, most markedly CXCL10, in chronic HCV-infected patients with higher necroinflammation and fibrosis.", "output": {"entities": {"gene": [{"text": "CXCL10", "start": 86, "end": 92}], "disease": [{"text": "fibrosis", "start": 161, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The Hspb1 gene was found to be downregulated in middle-aged animals as well as those with mild presbycusis, whereas it was upregulated in those with severe presbycusis.", "output": {"entities": {"gene": [{"text": "Hspb1 gene", "start": 4, "end": 14}], "disease": [{"text": "presbycusis", "start": 95, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "In most cases, EZ loss was observed only at locations where NIR-AF was reduced or absent, indicating that RPE cell atrophy occurs in advance of photoreceptor cell degeneration.", "output": {"entities": {"gene": [{"text": "NIR", "start": 60, "end": 63}], "disease": [{"text": "atrophy", "start": 115, "end": 122}]}, "relations": {}}, "schema": []}
{"input": "Frameshift and missense mutations in the X-linked neuroligin 4 (NLGN4, MIM #300427) and neuroligin 3 (NLGN3, MIM #300336) genes have been identified in patients with autism, Asperger syndrome and mental retardation.", "output": {"entities": {"gene": [{"text": "MIM", "start": 71, "end": 74}], "disease": [{"text": "autism", "start": 166, "end": 172}]}, "relations": {}}, "schema": []}
{"input": "By classifying 360 infertile patients into 174 azoospermia and 186 oligoasthenoteratozoospermia (OAT) subjects, the MTHFR 677TT and MS 2756GG types were significantly associated with the azoospermia group (P = 0. 0227 and 0. 0063, respectively).", "output": {"entities": {"gene": [{"text": "OAT", "start": 97, "end": 100}], "disease": [{"text": "infertile", "start": 19, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.", "output": {"entities": {"gene": [{"text": "transforming growth factor-beta-induced", "start": 30, "end": 69}], "disease": [{"text": "lattice corneal dystrophy type I", "start": 97, "end": 129}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "transforming growth factor-beta-induced", "start": 30, "end": 69}, "tail": {"text": "lattice corneal dystrophy type I", "start": 97, "end": 129}}]}}, "schema": []}
{"input": "The extent of capsaicin-or SP-induced plasma leakage and hypotension was significantly attenuated in rats on day 1 after SPA hyperthermia.", "output": {"entities": {"gene": [{"text": "SPA", "start": 121, "end": 124}], "disease": [{"text": "hyperthermia", "start": 125, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "Kindlin-2 promotes genome instability in breast cancer cells.", "output": {"entities": {"gene": [{"text": "Kindlin-2", "start": 0, "end": 9}], "disease": [{"text": "genome instability", "start": 19, "end": 37}]}, "relations": {}}, "schema": []}
{"input": "SNORD50A and SNORD50B snoRNAs thus directly bind and inhibit K-Ras and are recurrently deleted in human cancer.", "output": {"entities": {"gene": [{"text": "SNORD50B", "start": 13, "end": 21}], "disease": [{"text": "cancer", "start": 104, "end": 110}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SNORD50B", "start": 13, "end": 21}, "tail": {"text": "cancer", "start": 104, "end": 110}}]}}, "schema": []}
{"input": "To investigate whether chemokine receptor CCR5 is associated with TBE, CCR5Delta32 genotyping was performed among Lithuanian patients with TBE (n = 129) or with aseptic meningoencephalitis (n = 76) as well as among control subjects (n = 134).", "output": {"entities": {"gene": [{"text": "CCR5", "start": 42, "end": 46}], "disease": [{"text": "meningoencephalitis", "start": 169, "end": 188}]}, "relations": {}}, "schema": []}
{"input": "We also identified somatic RRAS mutations (p. Gly39dup and p. Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood myeloproliferative/myelodysplastic disease caused by upregulated RAS signalling, defining an atypical form of this haematological disorder rapidly progressing to acute myeloid leukaemia.", "output": {"entities": {"gene": [{"text": "RRAS", "start": 27, "end": 31}], "disease": [{"text": "juvenile myelomonocytic leukaemia", "start": 107, "end": 140}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RRAS", "start": 27, "end": 31}, "tail": {"text": "juvenile myelomonocytic leukaemia", "start": 107, "end": 140}}]}}, "schema": []}
{"input": "The BCL11A variant (rs11886868-' C') increases hemoglobin (P = 2 × 10 (-3)) and one of the HBS1L-MYB variants decreases WBC values selectively (P = 2. 3 × 10 (-4)).", "output": {"entities": {"gene": [{"text": "HBS1L", "start": 91, "end": 96}], "disease": [{"text": "hemoglobin", "start": 47, "end": 57}]}, "relations": {}}, "schema": []}
{"input": "This adhesion is often mediated by P-fimbriae, which recognize and specifically bind to the receptor structure (alpha-D-Galp-(1-4) beta-D-Galp) present on the cell membranes of human urinary tract epithelium.", "output": {"entities": {"gene": [{"text": "Galp", "start": 120, "end": 124}], "disease": [{"text": "adhesion", "start": 5, "end": 13}]}, "relations": {}}, "schema": []}
{"input": "The elevated IDL/LDL level of LDLR-/-mice was reduced to normal 4 d after the intravenous injection of a recombinant replication-defective adenovirus encoding the human LDL receptor driven by the cytomegalovirus promoter.", "output": {"entities": {"gene": [{"text": "LDLR", "start": 30, "end": 34}], "disease": [{"text": "adenovirus", "start": 139, "end": 149}]}, "relations": {}}, "schema": []}
{"input": "The MMP9, MMP3 and TIMP3 (tissue inhibitors of matrix metalloproteinases) polymorphisms and MMP3 and MMP12 haplotypes may play a substantial role in susceptibility to severe airway and lung injury in children with chronic bronchitis and recurrent pneumonia.", "output": {"entities": {"gene": [{"text": "TIMP3", "start": 19, "end": 24}], "disease": [{"text": "recurrent pneumonia", "start": 237, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "The mean levels of COX-2 mRNA expression (0. 25 +/-0. 06) and NF-kappaB activity (89 +/-13) in nasal polyps from AIAR were significantly lower than in polyps from ATAR (COX-2 = 1. 58 +/-0. 50, and NF-kappaB = 143 +/-12, P < 0. 01 and P < 0. 05, respectively).", "output": {"entities": {"gene": [{"text": "ATAR", "start": 163, "end": 167}], "disease": [{"text": "polyps", "start": 101, "end": 107}]}, "relations": {}}, "schema": []}
{"input": "The effect of LOX small interfering RNA (siRNA) on the EMT and motility of gastric cancer cells under hypoxic condition was analyzed by reverse transcription PCR, Western blot, a wound-healing assay, and an invasion assay.", "output": {"entities": {"gene": [{"text": "LOX", "start": 14, "end": 17}], "disease": [{"text": "hypoxic", "start": 102, "end": 109}]}, "relations": {}}, "schema": []}
{"input": "We have refined the critical region on chromosome 8q22 by haplotype analysis, and we report the characterization of a novel gene, COH1, that is mutated in patients with Cohen syndrome.", "output": {"entities": {"gene": [{"text": "COH1", "start": 130, "end": 134}], "disease": [{"text": "Cohen syndrome", "start": 169, "end": 183}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "COH1", "start": 130, "end": 134}, "tail": {"text": "Cohen syndrome", "start": 169, "end": 183}}]}}, "schema": []}
{"input": "The protocol included chromosomal analysis, screening for inborn errors of metabolism, cytogenetic and molecular study of the FRAXA, FRAXE, and FRAXF mutations, EEG, SPECT, and magnetic resonance imaging study.", "output": {"entities": {"gene": [{"text": "FRAXF", "start": 144, "end": 149}], "disease": [{"text": "inborn errors of metabolism", "start": 58, "end": 85}]}, "relations": {}}, "schema": []}
{"input": "Our results suggested that IRF4 may play a role in the systemic inflammation of allergic asthma patients by facilitating the differentiation of Th2 and Th17 cells at least at the transcriptional level.", "output": {"entities": {"gene": [{"text": "IRF4", "start": 27, "end": 31}], "disease": [{"text": "inflammation", "start": 64, "end": 76}]}, "relations": {}}, "schema": []}
{"input": "Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in LAMA1 as the cause of CDC in seven affected individuals (from five families) independent from those included in the phenotypic description of Poretti-Boltshauser syndrome.", "output": {"entities": {"gene": [{"text": "LAMA1", "start": 109, "end": 114}], "disease": [{"text": "Poretti-Boltshauser syndrome", "start": 251, "end": 279}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "LAMA1", "start": 109, "end": 114}, "tail": {"text": "Poretti-Boltshauser syndrome", "start": 251, "end": 279}}]}}, "schema": []}
{"input": "A unique case of refractory primary mediastinal B-cell lymphoma with JAK3 mutation and the role for targeted therapy.", "output": {"entities": {"gene": [{"text": "JAK3", "start": 69, "end": 73}], "disease": [{"text": "B-cell lymphoma", "start": 48, "end": 63}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "JAK3", "start": 69, "end": 73}, "tail": {"text": "B-cell lymphoma", "start": 48, "end": 63}}]}}, "schema": []}
{"input": "However, biopsy specimens retain value for showing fibrosis/cirrhosis and dysplastic hepatocytes, both of which increase risks of HCC development.", "output": {"entities": {"gene": [{"text": "HCC", "start": 130, "end": 133}], "disease": [{"text": "fibrosis", "start": 51, "end": 59}]}, "relations": {}}, "schema": []}
{"input": "RT-qPCR analysis validated that let-7b-5p and miR-1-3p for hepatocellular injury, miR-143-3p and miR-218a-5p for cholestasis, and miR-320-3p for steatosis models showed significant increases in the early stage of the injuries.", "output": {"entities": {"gene": [{"text": "miR-143", "start": 82, "end": 89}], "disease": [{"text": "cholestasis", "start": 113, "end": 124}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-143", "start": 82, "end": 89}, "tail": {"text": "cholestasis", "start": 113, "end": 124}}]}}, "schema": []}
{"input": "We propose that ATL cells adhere to endothelial cells through an adhesion cascade similar to normal leukocytes and that the chemokines produced by ATL cells are involved in triggering integrin LFA-1 through cytoskeletal rearrangement induced by G-protein-dependent activation of phosphoinositide 3-kinases in an autocrine manner.", "output": {"entities": {"gene": [{"text": "LFA-1", "start": 193, "end": 198}], "disease": [{"text": "adhesion", "start": 65, "end": 73}]}, "relations": {}}, "schema": []}
{"input": "Upon injection into normal rats, anti-DAF F (ab') 2 Abs bound to GEC in vivo, yet there was no evidence for complement activation and animals did not develop abnormal albuminuria.", "output": {"entities": {"gene": [{"text": "DAF", "start": 38, "end": 41}], "disease": [{"text": "albuminuria", "start": 167, "end": 178}]}, "relations": {}}, "schema": []}
{"input": "We determined 24-hour energy expenditure (24-h EE) (kilocalories) (n = 2) and resting metabolic rate (RMR) per kilogram of lean body mass (LBM) (n = 3) in CGL-1 and in 18 healthy control subjects.", "output": {"entities": {"gene": [{"text": "CGL-1", "start": 155, "end": 160}], "disease": [{"text": "lean body mass", "start": 123, "end": 137}]}, "relations": {}}, "schema": []}
{"input": "To better define the involvement of human leukocyte antigen region (HLA) genes in migraine via an association study of the tumor necrosis factor (TNF) genes, located in the HLA class III region, with migraine with and without aura.", "output": {"entities": {"gene": [{"text": "TNF", "start": 146, "end": 149}], "disease": [{"text": "aura", "start": 226, "end": 230}]}, "relations": {}}, "schema": []}
{"input": "Six hundred and twenty-six individuals exhibiting partial or complete coumarin resistance were analyzed by VKORC1 gene sequencing and CYP2C9 haplotyping.", "output": {"entities": {"gene": [{"text": "VKORC1", "start": 107, "end": 113}], "disease": [{"text": "coumarin resistance", "start": 70, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "VKORC1", "start": 107, "end": 113}, "tail": {"text": "coumarin resistance", "start": 70, "end": 89}}]}}, "schema": []}
{"input": "At 10 h after CLP (i. e., severe sepsis), human AM (12-48 microg/kg body weight) was administered in combination with human AMBP-1 (40-160 microg/kg body weight).", "output": {"entities": {"gene": [{"text": "CLP", "start": 14, "end": 17}], "disease": [{"text": "severe sepsis", "start": 26, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "The greatly increased incidence of AD following stroke and cerebral ischemia suggests that hypoxia is a risk factor which may accelerate AD pathogenesis by altering amyloid precursor protein (APP) processing.", "output": {"entities": {"gene": [{"text": "APP", "start": 192, "end": 195}], "disease": [{"text": "hypoxia", "start": 91, "end": 98}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, we evaluated CRP levels, glucose, insulin, and lipid profile, and we found higher CRP values in PWS adults with respect to children with PWS and controls, and a better insulin sensitivity in all PWS subjects than in the controls.", "output": {"entities": {"gene": [{"text": "CRP", "start": 26, "end": 29}], "disease": [{"text": "insulin sensitivity", "start": 181, "end": 200}]}, "relations": {}}, "schema": []}
{"input": "Two key events that may underlie the antitumor activity of rapamycin were decreased expression of ErbB3 and inhibition of hypoxia-inducible factor-1-dependent responses to hypoxic stress.", "output": {"entities": {"gene": [{"text": "ErbB3", "start": 98, "end": 103}], "disease": [{"text": "hypoxic", "start": 172, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/> 1. 5) and were used to generate the inflammatory risk score (IRS).", "output": {"entities": {"gene": [{"text": "IL-23a", "start": 19, "end": 25}], "disease": [{"text": "regression", "start": 202, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "T-cell prolymphocytic leukaemia (T-PLL) is a sporadic, mature T-cell disorder in which there is usually an aberrant T-cell receptor alpha (TCRA) rearrangement that activates the TCL1 or MTCP1-B1 oncogenes.", "output": {"entities": {"gene": [{"text": "TCL1", "start": 178, "end": 182}], "disease": [{"text": "sporadic", "start": 45, "end": 53}]}, "relations": {}}, "schema": []}
{"input": "Loss of Cables expression in 65% of CRCs suggests that it is a common event in colonic carcinogenesis, with promoter methylation and LOH appearing to be important mechanisms of Cables gene inactivation.", "output": {"entities": {"gene": [{"text": "Cables", "start": 8, "end": 14}], "disease": [{"text": "CRC", "start": 36, "end": 39}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cables", "start": 8, "end": 14}, "tail": {"text": "CRC", "start": 36, "end": 39}}]}}, "schema": []}
{"input": "C-type NP dilates arteries and lowers blood pressure, and it inhibits the proliferation of vascular smooth muscle cells via the type B NP receptor (NPRB).", "output": {"entities": {"gene": [{"text": "NPRB", "start": 148, "end": 152}], "disease": [{"text": "blood pressure", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "The involvement of mutant nectin-4 in causing EDSS1 may open up interesting prospectives into the role of cell adhesion molecules in causing syndromic forms of EDs.", "output": {"entities": {"gene": [{"text": "nectin-4", "start": 26, "end": 34}], "disease": [{"text": "EDSS1", "start": 46, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "nectin-4", "start": 26, "end": 34}, "tail": {"text": "EDSS1", "start": 46, "end": 51}}]}}, "schema": []}
{"input": "Interleukin-4 (IL-4) and interleukin-4 receptor (IL-4R) modulate inflammation and are associated with the colorectal adenoma-carcinoma progression and the metastatic capacity.", "output": {"entities": {"gene": [{"text": "IL-4", "start": 15, "end": 19}], "disease": [{"text": "inflammation", "start": 65, "end": 77}]}, "relations": {}}, "schema": []}
{"input": "To explore the use of apoptin in tumor gene therapy, we assessed a recombinant adenovirus expressing the apoptin protein (Ad-hTERTp-E1a-Apoptin) in order to determine its lethal and growth-inhibitory effects on PC-3 and RM-1 cells in vitro and its antitumor effect on solid tumors in vivo.", "output": {"entities": {"gene": [{"text": "PC-3", "start": 211, "end": 215}], "disease": [{"text": "adenovirus", "start": 79, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "In none of the sporadic AD patients did we find the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes.", "output": {"entities": {"gene": [{"text": "ACT", "start": 71, "end": 74}], "disease": [{"text": "sporadic", "start": 15, "end": 23}]}, "relations": {}}, "schema": []}
{"input": "These abnormalities are reminiscent of other retinal degeneration phenotypes (in particular rd7/rd7 mice) where photoreceptor cell loss occurs.", "output": {"entities": {"gene": [{"text": "rd7", "start": 92, "end": 95}], "disease": [{"text": "abnormalities", "start": 6, "end": 19}]}, "relations": {}}, "schema": []}
{"input": "Thus, SIRT1 protects against emphysema through FOXO3-mediated reduction of cellular senescence, independently of inflammation.", "output": {"entities": {"gene": [{"text": "FOXO3", "start": 47, "end": 52}], "disease": [{"text": "inflammation", "start": 113, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Immunohistochemical double labeling demonstrated the presence of mRNA for MT1-MMP in fibroblasts and macrophages, as well as in osteoclast-like cells at sites of bone resorption.", "output": {"entities": {"gene": [{"text": "MT1-MMP", "start": 74, "end": 81}], "disease": [{"text": "bone resorption", "start": 162, "end": 177}]}, "relations": {}}, "schema": []}
{"input": "A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT).", "output": {"entities": {"gene": [{"text": "cblC", "start": 42, "end": 46}], "disease": [{"text": "jaundice", "start": 106, "end": 114}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that ANG II infusion induces an imbalance between excitatory and inhibitory neurotransmitters and an imbalance between pro-and anti-inflammatory cytokines in the PVN, and PVN inhibition of the RAS restores neurotransmitters and cytokines in the PVN, thereby attenuating ANG II-induced hypertension and cardiac hypertrophy.", "output": {"entities": {"gene": [{"text": "ANG", "start": 28, "end": 31}], "disease": [{"text": "cardiac hypertrophy", "start": 325, "end": 344}]}, "relations": {}}, "schema": []}
{"input": "SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0. 704, 95% CI 0. 635-0. 778, P = 1. 44 x 10 (-11); and ABCA4, most significant SNP rs560426, with OR = 1. 432, 95% CI 1. 292-1. 587, P = 5. 01 x 10 (-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.", "output": {"entities": {"gene": [{"text": "MAFB", "start": 92, "end": 96}], "disease": [{"text": "cleft lip", "start": 51, "end": 60}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "MAFB", "start": 92, "end": 96}, "tail": {"text": "cleft lip", "start": 51, "end": 60}}]}}, "schema": []}
{"input": "According to our knowledge, this is the first mutation screening of Chk1, Chk2, Apaf1 and Rb1 in human malignant mesothelioma.", "output": {"entities": {"gene": [{"text": "Chk1", "start": 68, "end": 72}], "disease": [{"text": "malignant mesothelioma", "start": 103, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization.", "output": {"entities": {"gene": [{"text": "IDH1", "start": 27, "end": 31}], "disease": [{"text": "MC-HGA", "start": 60, "end": 66}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "IDH1", "start": 27, "end": 31}, "tail": {"text": "MC-HGA", "start": 60, "end": 66}}]}}, "schema": []}
{"input": "HepaRG-AMC-BALs were connected to the blood circulation of rats with total liver ischaemia, either during the first 5 h after induction of ischaemia (mild ALF group), or during the following 10 h (severe ALF group).", "output": {"entities": {"gene": [{"text": "ALF", "start": 155, "end": 158}], "disease": [{"text": "mild", "start": 150, "end": 154}]}, "relations": {}}, "schema": []}
{"input": "The activity of the reverse mode of NCX was found significantly higher at the initial time of reperfusion, and KB-R7943, a selective inhibitor of the reverse mode of NCX, administered at first 10 min of reperfusion rather than at the time of ischemia significantly attenuated myocardial stunning.", "output": {"entities": {"gene": [{"text": "NCX", "start": 36, "end": 39}], "disease": [{"text": "myocardial stunning", "start": 276, "end": 295}]}, "relations": {}}, "schema": []}
{"input": "We studied ICAM-1 K469E polymorphism among symptomatic and asymptomatic NCC patients.", "output": {"entities": {"gene": [{"text": "NCC", "start": 72, "end": 75}], "disease": [{"text": "asymptomatic", "start": 59, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "Furthermore, 128 biopsies from 16 advanced achalasic patients were prospectively collected and evaluated for grades of inflammation, hyperplasia, dysplasia and also for p53 and PCNA proteins.", "output": {"entities": {"gene": [{"text": "PCNA", "start": 177, "end": 181}], "disease": [{"text": "inflammation", "start": 119, "end": 131}]}, "relations": {}}, "schema": []}
{"input": "The t (12; 14) is the first neoplasia-associated translocation shown to result in overexpression of cyclin D2.", "output": {"entities": {"gene": [{"text": "cyclin D2", "start": 100, "end": 109}], "disease": [{"text": "translocation", "start": 49, "end": 62}]}, "relations": {}}, "schema": []}
{"input": "FISH analysis of 5 cases revealed an intact EWS gene locus, supporting absence of the clear cell sarcoma 12; 22 translocation.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 44, "end": 52}], "disease": [{"text": "translocation", "start": 112, "end": 125}]}, "relations": {}}, "schema": []}
{"input": "However, the cause-and-effect relationship between normal aging and progerin production in normal individuals has not yet been determined.", "output": {"entities": {"gene": [{"text": "progerin", "start": 68, "end": 76}], "disease": [{"text": "aging", "start": 58, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "These data demonstrate hypoxia-induced autophagy is at least partially regulated by miR-96; miR-96 can promote or inhibit autophagy by principally inhibiting MTOR or ATG7 depending on the expression levels of miR-96.", "output": {"entities": {"gene": [{"text": "MTOR", "start": 158, "end": 162}], "disease": [{"text": "hypoxia", "start": 23, "end": 30}]}, "relations": {}}, "schema": []}
{"input": "In this study, we evaluate the value of identifying MAML2 rearrangement by fluorescence in situ hybridization (FISH) to distinguish TMEC from poorly differentiated squamous cell carcinoma and adenosquamous carcinoma.", "output": {"entities": {"gene": [{"text": "FISH", "start": 111, "end": 115}], "disease": [{"text": "adenosquamous carcinoma", "start": 192, "end": 215}]}, "relations": {}}, "schema": []}
{"input": "Serum CCN2 was a reliable marker for the assessment of liver fibrosis, with areas under the receiver operating characteristic (ROC) curves (AUC) of 0. 94 or 0. 85 for, respectively, distinguishing normal liver controls from patients with F1 stage liver fibrosis or discriminating between mild and significant fibrosis.", "output": {"entities": {"gene": [{"text": "CCN2", "start": 6, "end": 10}], "disease": [{"text": "mild", "start": 288, "end": 292}]}, "relations": {}}, "schema": []}
{"input": "A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.", "output": {"entities": {"gene": [{"text": "keratin 9", "start": 20, "end": 29}], "disease": [{"text": "epidermolytic palmoplantar keratoderma", "start": 33, "end": 71}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "keratin 9", "start": 20, "end": 29}, "tail": {"text": "epidermolytic palmoplantar keratoderma", "start": 33, "end": 71}}]}}, "schema": []}
{"input": "Moreover, in other forms of spondyloarthropathy, a similar association has been reported: 42% of patients with spondyloarthropathy and associated asymptomatic chronic gut inflammation, who are considered likely to develop Crohn' s disease and ankylosing spondylitis, are carriers of at least one CARD15 mutation, compared with only 7% of patients with normal histology.", "output": {"entities": {"gene": [{"text": "CARD15", "start": 296, "end": 302}], "disease": [{"text": "asymptomatic", "start": 146, "end": 158}]}, "relations": {}}, "schema": []}
{"input": "When patients with HC were divided into 3 groups on the basis of their NT-pro-BNP levels, there were statistically significant linear associations of LV end-systolic volume (test for linearity p = 0. 034), LV mass index (p = 0. 009), proportion of hypokinetic segments (p = 0. 016), and levels of serum aminoterminal propeptide of type III procollagen (p = 0. 020) with NT-pro-BNP levels over the 3 groups, suggesting a tight relation between LV remodeling and levels of NT-pro-BNP.", "output": {"entities": {"gene": [{"text": "BNP", "start": 78, "end": 81}], "disease": [{"text": "hypokinetic", "start": 248, "end": 259}]}, "relations": {}}, "schema": []}
{"input": "All four mutations did not affect localization of FGE in the endoplasmic reticulum of MSD fibroblasts.", "output": {"entities": {"gene": [{"text": "FGE", "start": 50, "end": 53}], "disease": [{"text": "MSD", "start": 86, "end": 89}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "FGE", "start": 50, "end": 53}, "tail": {"text": "MSD", "start": 86, "end": 89}}]}}, "schema": []}
{"input": "Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities.", "output": {"entities": {"gene": [{"text": "cathepsin K", "start": 35, "end": 46}], "disease": [{"text": "abnormalities", "start": 123, "end": 136}]}, "relations": {}}, "schema": []}
{"input": "Fusion-positive cell lines showed impaired barrier properties, reduced cell-cell and cell-extracellular matrix adhesion, retarded wound healing, and inhibition of RHOA.", "output": {"entities": {"gene": [{"text": "RHOA", "start": 163, "end": 167}], "disease": [{"text": "adhesion", "start": 111, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "To explore the molecular mechanisms of the proteinuria-induced TI injury further, we have analyzed renal gene expression with DNA microarrays, with and without specific inhibition of NF-kappaB in the proximal tubules.", "output": {"entities": {"gene": [{"text": "NF-kappaB", "start": 183, "end": 192}], "disease": [{"text": "proteinuria", "start": 43, "end": 54}]}, "relations": {}}, "schema": []}
{"input": "Co-expression of Nm23H1 but not H2 in NIH3T3 cells effectively suppressed neoplastic transformation and tumorigenesis induced by the oncogenic H-Ras G12V mutant.", "output": {"entities": {"gene": [{"text": "Nm23H1", "start": 17, "end": 23}], "disease": [{"text": "tumorigenesis", "start": 104, "end": 117}]}, "relations": {}}, "schema": []}
{"input": "In secondary analysis, marginal statistical significance was observed with the change in both serum glucose concentrations (P = 0. 003) and HOMA-IR (P = 0. 007) being predictive of the fold change in ZnT6.", "output": {"entities": {"gene": [{"text": "ZnT6", "start": 200, "end": 204}], "disease": [{"text": "secondary", "start": 3, "end": 12}]}, "relations": {}}, "schema": []}
{"input": "To further elucidate the molecular mechanisms involved in hypertensive vascular remodeling, an immunohistochemical technique and Western blot were applied to study phospho-extracellular signal-regulated kinase (ERK1/2) and transforming growth factor beta1 (TGF-beta1) expression in endothelial and vascular smooth muscle cell (VSMC) of the thoracic aorta and renal arterioles from SHR of different ages.", "output": {"entities": {"gene": [{"text": "ERK1", "start": 211, "end": 215}], "disease": [{"text": "vascular remodeling", "start": 71, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To further refine those results and to determine sequential relationships among CN, DN, and HCC, LOH was next studied in an additional 53 HCCs, 56 HGDNs, 30 LGDNs, and 215 CNs from 11 explanted human cirrhotic livers, including 30 \" nodule-in-nodule \" lesions.", "output": {"entities": {"gene": [{"text": "HCC", "start": 92, "end": 95}], "disease": [{"text": "nodule", "start": 233, "end": 239}]}, "relations": {}}, "schema": []}
{"input": "SCN1A deletions should be ruled out even in individuals with mild phenotypes.", "output": {"entities": {"gene": [{"text": "SCN1A", "start": 0, "end": 5}], "disease": [{"text": "mild", "start": 61, "end": 65}]}, "relations": {}}, "schema": []}
{"input": "Different mutations of the human mineralocorticoid receptor (hMR) gene have been identified in subjects affected by the autosomal dominant or sporadic form of the disease.", "output": {"entities": {"gene": [{"text": "mineralocorticoid receptor", "start": 33, "end": 59}], "disease": [{"text": "sporadic", "start": 142, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "This study provides the first evidence of genotype-phenotype correlation in ARC and suggests that VPS33B c. 1225 + 5G > C mutation predicts a mild ARC phenotype.", "output": {"entities": {"gene": [{"text": "VPS33B", "start": 98, "end": 104}], "disease": [{"text": "mild", "start": 142, "end": 146}]}, "relations": {}}, "schema": []}
{"input": "Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.", "output": {"entities": {"gene": [{"text": "prion protein", "start": 203, "end": 216}], "disease": [{"text": "FFI", "start": 25, "end": 28}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "prion protein", "start": 203, "end": 216}, "tail": {"text": "FFI", "start": 25, "end": 28}}]}}, "schema": []}
{"input": "IFN-γ, IL-21, and IL-10 co-expression in evolving autoimmune vitiligo lesions of Smyth line chickens.", "output": {"entities": {"gene": [{"text": "IL-21", "start": 7, "end": 12}], "disease": [{"text": "vitiligo", "start": 61, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) can both be due to mutations in the genes encoding β-myosin heavy chain (MYH7) or cardiac myosin-binding protein C (MYBPC3).", "output": {"entities": {"gene": [{"text": "heavy chain", "start": 127, "end": 138}], "disease": [{"text": "dilated cardiomyopathy", "start": 38, "end": 60}]}, "relations": {}}, "schema": []}
{"input": "A large number of tumor cell lines derived from neuroectoderm express DRT transcripts, including 12 neuroblastomas, two medulloblastomas, one primitive neuroectodermal tumor and six small cell lung carcinomas (SCLC).", "output": {"entities": {"gene": [{"text": "DRT", "start": 70, "end": 73}], "disease": [{"text": "primitive neuroectodermal tumor", "start": 142, "end": 173}]}, "relations": {}}, "schema": []}
{"input": "In EC-SOD knockout mice, blood pressure was reported to be significantly higher than that seen in wild-type mice.", "output": {"entities": {"gene": [{"text": "EC-SOD", "start": 3, "end": 9}], "disease": [{"text": "blood pressure", "start": 25, "end": 39}]}, "relations": {}}, "schema": []}
{"input": "They were evaluated for heritable thrombophilia (factor V Leiden and factor II G20210A mutations, protein S, protein C, and antithrombin deficiency), hyperhomocystinemia, lupus anticoagulant, and anticardiolipin antibodies.", "output": {"entities": {"gene": [{"text": "protein C", "start": 109, "end": 118}], "disease": [{"text": "hyperhomocystinemia", "start": 150, "end": 169}]}, "relations": {}}, "schema": []}
{"input": "The mRNAs for aFGF and bFGF were expressed in the cells of various tumors (1/1 and 1/1 astrocytoma, 2/2 and 2/2 anaplastic astrocytomas, 6/6 and 6/6 glioblastomas, 4/4 and 4/4 meningiomas, 3/3 and 3/3 schwannomas, 1/2 and 1/2 pituitary adenomas, 4/4 and 4/4 metastatic carcinomas, 0/1 an 0/1 hemangioblastoma, 0/1 and 0/1 craniopharyngioma) and were also detected in endothelial cells and surrounding neuronal cells of brain tumors.", "output": {"entities": {"gene": [{"text": "aFGF", "start": 14, "end": 18}], "disease": [{"text": "schwannomas", "start": 201, "end": 212}]}, "relations": {}}, "schema": []}
{"input": "If animals were further treated with prolactin, the development of HT and MT was accelerated, whereas that of PT was suppressed.", "output": {"entities": {"gene": [{"text": "prolactin", "start": 37, "end": 46}], "disease": [{"text": "PT", "start": 110, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "prolactin", "start": 37, "end": 46}, "tail": {"text": "PT", "start": 110, "end": 112}}]}}, "schema": []}
{"input": "However, the frequency of T12A was higher for the azoospermic (20. 5%) than oligozoospermic (9. 6%) individuals in infertile men without DAZ deletions, although statistical difference was not so apparent (chi2 test: P = 0. 037, OR = 2. 413, 95% CI = 1. 035-5. 629; Yate' s chi2 test: P = 0. 058, OR = 2. 319, 95% CI = 0. 973-6. 166).", "output": {"entities": {"gene": [{"text": "DAZ", "start": 137, "end": 140}], "disease": [{"text": "infertile", "start": 115, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "OBJECTIVE: To evaluate the association between the vascular endothelial growth factor (VEGF) polymorphism and the risk of recurrent spontaneous miscarriage (RSM).", "output": {"entities": {"gene": [{"text": "VEGF", "start": 87, "end": 91}], "disease": [{"text": "miscarriage", "start": 144, "end": 155}]}, "relations": {}}, "schema": []}
{"input": "Locoregional chemotherapy continues to be the mainstay for the treatment of unresectable hepatocellular carcinoma (HCC).", "output": {"entities": {"gene": [{"text": "HCC", "start": 115, "end": 118}], "disease": [{"text": "unresectable hepatocellular carcinoma", "start": 76, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.", "output": {"entities": {"gene": [{"text": "CFTR", "start": 49, "end": 53}], "disease": [{"text": "CF", "start": 49, "end": 51}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "CFTR", "start": 49, "end": 53}, "tail": {"text": "CF", "start": 49, "end": 51}}]}}, "schema": []}
{"input": "This study evaluated polymorphisms IL-1RN VNTR and TNFB + 252A/G in a population from Southeast Brazil with regard to the risk of chronic gastritis and gastric cancer and the presence of an association of gastric lesions with risk factors such as gender, age, smoking, drinking and Helicobacter pylori infection.", "output": {"entities": {"gene": [{"text": "TNFB", "start": 51, "end": 55}], "disease": [{"text": "smoking", "start": 260, "end": 267}]}, "relations": {}}, "schema": []}
{"input": "PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.", "output": {"entities": {"gene": [{"text": "PFIC", "start": 0, "end": 4}], "disease": [{"text": "fibrosis", "start": 30, "end": 38}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that HCN1 and HCN2 are involved in inflammation-induced sensory neuron hyperexcitability, and indicate that an opioid receptor agonist can reverse the protein upregulation.", "output": {"entities": {"gene": [{"text": "HCN2", "start": 36, "end": 40}], "disease": [{"text": "inflammation", "start": 57, "end": 69}]}, "relations": {}}, "schema": []}
{"input": "Differential expression of pentraxin 3 in fibroblasts from patients with major depression.", "output": {"entities": {"gene": [{"text": "pentraxin 3", "start": 27, "end": 38}], "disease": [{"text": "major depression", "start": 73, "end": 89}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "pentraxin 3", "start": 27, "end": 38}, "tail": {"text": "major depression", "start": 73, "end": 89}}]}}, "schema": []}
{"input": "RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.", "output": {"entities": {"gene": [{"text": "NKX2-5", "start": 52, "end": 58}], "disease": [{"text": "myotonic muscular dystrophy", "start": 16, "end": 43}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "NKX2-5", "start": 52, "end": 58}, "tail": {"text": "myotonic muscular dystrophy", "start": 16, "end": 43}}]}}, "schema": []}
{"input": "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.", "output": {"entities": {"gene": [{"text": "ED1", "start": 27, "end": 30}], "disease": [{"text": "hypohidrotic ectodermal dysplasia", "start": 48, "end": 81}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ED1", "start": 27, "end": 30}, "tail": {"text": "hypohidrotic ectodermal dysplasia", "start": 48, "end": 81}}]}}, "schema": []}
{"input": "The expression of myocilin in the normal rat kidney and its changes during mesangioproliferative glomerulonephritis were investigated by immunohistochemistry, one-and two-dimensional gel electrophoresis with Western blotting, and reverse transcription-polymerase chain reaction (RT-PCR).", "output": {"entities": {"gene": [{"text": "myocilin", "start": 18, "end": 26}], "disease": [{"text": "glomerulonephritis", "start": 97, "end": 115}]}, "relations": {}}, "schema": []}
{"input": "To quantify and compare human mucin 1 (MUC1) protein and mRNA expression in tears and conjunctival epithelial cells collected from Sjogren' s syndrome (SS), non-Sjogren' s keratoconjunctivitus sicca (KCS) and non-dry eyed (NDE) control subjects.", "output": {"entities": {"gene": [{"text": "NDE", "start": 223, "end": 226}], "disease": [{"text": "dry", "start": 213, "end": 216}]}, "relations": {}}, "schema": []}
{"input": "In acute measles infection, measles genome was detected in all cell fractions, CD4, CD8, B cells, and monocytes/macrophages by the H gene nested PCR.", "output": {"entities": {"gene": [{"text": "CD8", "start": 84, "end": 87}], "disease": [{"text": "measles", "start": 9, "end": 16}]}, "relations": {}}, "schema": []}
{"input": "The GSTM3 promoter polymorphism was associated with forced expiratory volume in 1 s/forced vital capacity ratio (P = 0. 010), and the GSTT1 genotype with emphysematous signs (P = 0. 008), including paraceptal (P = 0. 015), panlobular (P = 0. 031), and bullae-type (P = 0. 045) changes.", "output": {"entities": {"gene": [{"text": "GSTT1", "start": 134, "end": 139}], "disease": [{"text": "vital capacity", "start": 91, "end": 105}]}, "relations": {}}, "schema": []}
{"input": "Topiramate' s reduction of body mass index in heavy drinkers: lack of moderation by a GRIK1 polymorphism.", "output": {"entities": {"gene": [{"text": "GRIK1", "start": 86, "end": 91}], "disease": [{"text": "body mass index", "start": 27, "end": 42}]}, "relations": {}}, "schema": []}
{"input": "The Gly49 allele in the beta1-adrenergic receptor and the 5' LC-Cys19, Arg16, and Gln27 alleles in the beta2-adrenergic receptor were associated with a lower risk of heart failure in idiopathic dilated cardiomyopathy, suggesting that the beta1-and beta2-adrenergic receptor genes are modifier genes.", "output": {"entities": {"gene": [{"text": "beta2", "start": 103, "end": 108}], "disease": [{"text": "heart failure", "start": 166, "end": 179}]}, "relations": {}}, "schema": []}
{"input": "The NAT2 phenotype polymorphisms and gastric cancer risk predisposition were not modified by concomitant H pylori infection and smoking.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 4, "end": 8}], "disease": [{"text": "smoking", "start": 128, "end": 135}]}, "relations": {}}, "schema": []}
{"input": "In this article, we demonstrate the assessment of HME, IME, and LME in a group of 233 sporadic CRCs using seven markers proposed by Yagi et al.", "output": {"entities": {"gene": [{"text": "HME", "start": 50, "end": 53}], "disease": [{"text": "sporadic", "start": 86, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "We report a case of de novo AML M4 subtype, with a t (11; 12) (p15; q13) translocation, generating a NUP98-HOXC13 chimeric transcript.", "output": {"entities": {"gene": [{"text": "NUP98", "start": 101, "end": 106}], "disease": [{"text": "translocation", "start": 73, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "Transient forebrain ischemia resulted in a marked activation of nuclear NF-kappa B in the highly vulnerable CA1 sector.", "output": {"entities": {"gene": [{"text": "CA1", "start": 108, "end": 111}], "disease": [{"text": "ischemia", "start": 20, "end": 28}]}, "relations": {}}, "schema": []}
{"input": "Both glomerular and tubular injury occurred as evidenced by heavy proteinuria, albuminuria and increased urine N-acetyl glucosaminidase (NAG) excretion.", "output": {"entities": {"gene": [{"text": "NAG", "start": 137, "end": 140}], "disease": [{"text": "albuminuria", "start": 79, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "The maternal NAT2 acetylator status, however, was not associated with an increased risk for orofacial cleft or spina bifida offspring, nor in combination with periconceptional smoking or medication use.", "output": {"entities": {"gene": [{"text": "NAT2", "start": 13, "end": 17}], "disease": [{"text": "smoking", "start": 176, "end": 183}]}, "relations": {}}, "schema": []}
{"input": "Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex.", "output": {"entities": {"gene": [{"text": "TTC37", "start": 130, "end": 135}], "disease": [{"text": "Syndromic diarrhea", "start": 0, "end": 18}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "TTC37", "start": 130, "end": 135}, "tail": {"text": "Syndromic diarrhea", "start": 0, "end": 18}}]}}, "schema": []}
{"input": "CblC disease should be considered in the differential diagnosis of pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "CblC", "start": 0, "end": 4}], "disease": [{"text": "pulmonary hypertension", "start": 67, "end": 89}]}, "relations": {}}, "schema": []}
{"input": "TRB sequences of Melan-A-specific clonotypes obtained from melanoma patients were highly heterogeneous, but displayed a preferential usage of few TRBV and TRBJ segments.", "output": {"entities": {"gene": [{"text": "TRB", "start": 0, "end": 3}], "disease": [{"text": "melanoma", "start": 59, "end": 67}]}, "relations": {}}, "schema": []}
{"input": "Certain patients with apparently sporadic parathyroid carcinoma carry germ-line mutations in HRPT2 and may have the HPT-JT syndrome or a phenotypic variant.", "output": {"entities": {"gene": [{"text": "HRPT2", "start": 93, "end": 98}], "disease": [{"text": "parathyroid carcinoma", "start": 42, "end": 63}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "HRPT2", "start": 93, "end": 98}, "tail": {"text": "parathyroid carcinoma", "start": 42, "end": 63}}]}}, "schema": []}
{"input": "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.", "output": {"entities": {"gene": [{"text": "ATP2C1", "start": 13, "end": 19}], "disease": [{"text": "Hailey-Hailey disease", "start": 52, "end": 73}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "ATP2C1", "start": 13, "end": 19}, "tail": {"text": "Hailey-Hailey disease", "start": 52, "end": 73}}]}}, "schema": []}
{"input": "Prolonged ischemia of the lower limbs of patients with chronic arterial occlusion causes increased concentration of protein CO groups in serum, as the result of the oxidative modification of protein side chains, and in the oxidase activity of Cp, due to acute phase reaction.", "output": {"entities": {"gene": [{"text": "Cp", "start": 243, "end": 245}], "disease": [{"text": "ischemia", "start": 10, "end": 18}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "Cp", "start": 243, "end": 245}, "tail": {"text": "ischemia", "start": 10, "end": 18}}]}}, "schema": []}
{"input": "In the current WHO classification of myeloid disorders, chronic neutrophilic leukaemia (CNL) is recognized as a myeloproliferative neoplasm characterized by sustained neutrophilic leukocytosis, hepatosplenomegaly and bone marrow granulocytic hyperplasia without evidence of dysplasia, BCR-ABL1 or rearrangements of PDGFRA, PDGFRB or FGFR1.", "output": {"entities": {"gene": [{"text": "FGFR1", "start": 333, "end": 338}], "disease": [{"text": "chronic neutrophilic leukaemia", "start": 56, "end": 86}]}, "relations": {}}, "schema": []}
{"input": "In this study, we show that TAZ is phosphorylated by the Lats tumor suppressor kinase, a key component of the Hippo pathway, whose alterations result in organ and tissue hypertrophy in Drosophila and contribute to tumorigenesis in humans.", "output": {"entities": {"gene": [{"text": "TAZ", "start": 28, "end": 31}], "disease": [{"text": "tumorigenesis", "start": 214, "end": 227}]}, "relations": {}}, "schema": []}
{"input": "Clinical trials to treat cancers with adenovirus expressing the human IFN-beta gene (IFNB1) has been planned.", "output": {"entities": {"gene": [{"text": "IFNB1", "start": 85, "end": 90}], "disease": [{"text": "adenovirus", "start": 38, "end": 48}]}, "relations": {}}, "schema": []}
{"input": "I explain that I was able to advance the field of prion disease neuropathology largely because of the foundation of neurochemistry and immunohistochemistry that I learned while working 5 years in Dr. Eng' s laboratory.", "output": {"entities": {"gene": [{"text": "Eng' s", "start": 200, "end": 206}], "disease": [{"text": "prion disease", "start": 50, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "The odds ratios (ORs) for the association between IL-2 polymorphism [OR = 2. 78, 95% CI (confidence interval) = 1. 26-6. 17 (T/T to G/G)] or IL-4 polymorphism [OR = 2. 22, 95% CI = 1. 01-4. 89 (T/C to C/C)] were increased significantly with gastric atrophy, whereas the corresponding OR of IL-13 polymorphism was decreased with gastric atrophy [OR = 0. 61, 95% CI = 0. 39-0. 96 (C/T and T/T to C/C)].", "output": {"entities": {"gene": [{"text": "IL-13", "start": 290, "end": 295}], "disease": [{"text": "gastric atrophy", "start": 241, "end": 256}]}, "relations": {}}, "schema": []}
{"input": "METHODOLOGY: In a case-control study including 419 controls and 389 patients with sporadic GC, single nucleotide polymorphisms (SNPs) of p53 Arg72Pro, p21 Ser31Arg, and p73 G4C14-to-A4T14 at exon 2 were genotyped.", "output": {"entities": {"gene": [{"text": "p53", "start": 137, "end": 140}], "disease": [{"text": "sporadic", "start": 82, "end": 90}]}, "relations": {}}, "schema": []}
{"input": "To investigate a putative role of TSPYL1 in male idiopathic infertility.", "output": {"entities": {"gene": [{"text": "TSPYL1", "start": 34, "end": 40}], "disease": [{"text": "infertility", "start": 60, "end": 71}]}, "relations": {}}, "schema": []}
{"input": "In this study, we analyzed NRP-1 expression level in 40 acute leukemia patients [20 acute myeloid leukemia (AML) and 20 acute lymphoblastic leukemia (ALL)] and 10 healthy controls using Real-Time Quantitative Reverse-Transcriptase Polymerase Chain Reaction (RTQ-PCR) aiming to show Neuropilin-1 (NRP-1) gene expression pattern in acute leukemia patients and its role in disease severity and progression.", "output": {"entities": {"gene": [{"text": "NRP", "start": 27, "end": 30}], "disease": [{"text": "acute myeloid leukemia", "start": 84, "end": 106}]}, "relations": {}}, "schema": []}
{"input": "Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders.", "output": {"entities": {"gene": [{"text": "ANKK1", "start": 66, "end": 71}], "disease": [{"text": "bipolar disorders", "start": 111, "end": 128}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ANKK1", "start": 66, "end": 71}, "tail": {"text": "bipolar disorders", "start": 111, "end": 128}}]}}, "schema": []}
{"input": "We found that mice lacking CCR7 had increased right ventricular systolic pressure, reduced pulmonary artery acceleration time, increased right ventricular/tibial length ratio, Rho kinase-mediated pulmonary vasoconstriction, and increased muscularization of distal arteries, indicating pulmonary hypertension.", "output": {"entities": {"gene": [{"text": "Rho kinase", "start": 176, "end": 186}], "disease": [{"text": "pulmonary hypertension", "start": 285, "end": 307}]}, "relations": {}}, "schema": []}
{"input": "To evaluate the effects of clusterin-antisense treatment in vivo, we applied an SCID-mouse/human-melanoma xenotransplantation model.", "output": {"entities": {"gene": [{"text": "clusterin", "start": 27, "end": 36}], "disease": [{"text": "melanoma", "start": 97, "end": 105}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "clusterin", "start": 27, "end": 36}, "tail": {"text": "melanoma", "start": 97, "end": 105}}]}}, "schema": []}
{"input": "Novel role of triazenes in haematological malignancies: pilot study of Temozolomide, Lomeguatrib and IL-2 in the chemo-immunotherapy of acute leukaemia.", "output": {"entities": {"gene": [{"text": "IL-2", "start": 101, "end": 105}], "disease": [{"text": "leukaemia", "start": 142, "end": 151}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "IL-2", "start": 101, "end": 105}, "tail": {"text": "leukaemia", "start": 142, "end": 151}}]}}, "schema": []}
{"input": "The PON1 Q/R polymorphism was found to have significant association with hypertension (p = 0. 046) and chronic constipation (p = 0. 028) whereas, the L/M polymorphism, with diabetes (p = 0. 036), arteritis (trend p = 0. 022) and hemorrhoids (trend p = 0. 027).", "output": {"entities": {"gene": [{"text": "PON1", "start": 4, "end": 8}], "disease": [{"text": "arteritis", "start": 196, "end": 205}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PON1", "start": 4, "end": 8}, "tail": {"text": "arteritis", "start": 196, "end": 205}}]}}, "schema": []}
{"input": "C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.", "output": {"entities": {"gene": [{"text": "C4BPB", "start": 0, "end": 5}], "disease": [{"text": "venous thrombosis", "start": 46, "end": 63}]}, "relations": {}}, "schema": []}
{"input": "Function-neutralizing antibody to integrin alpha (2) beta (1) effectively suppressed the Cyr61-mediated enhanced adhesion of AGS cells to peritoneal tissue.", "output": {"entities": {"gene": [{"text": "Cyr61", "start": 89, "end": 94}], "disease": [{"text": "adhesion", "start": 113, "end": 121}]}, "relations": {}}, "schema": []}
{"input": "These findings suggest that \" affected CYP1B1 genotypes \" exhibit variable expressivity rather than nonpenetrance.", "output": {"entities": {"gene": [{"text": "CYP1B1", "start": 39, "end": 45}], "disease": [{"text": "variable expressivity", "start": 66, "end": 87}]}, "relations": {}}, "schema": []}
{"input": "These data indicate that only the combined analyses of genetic alterations in the IL-4/IL-13 pathway reveal its actual significance to the development of atopy and childhood asthma.", "output": {"entities": {"gene": [{"text": "IL-13", "start": 87, "end": 92}], "disease": [{"text": "atopy", "start": 154, "end": 159}]}, "relations": {}}, "schema": []}
{"input": "The analysis of the presence of PIK3CA and B-RAF gene mutations in relation to ERK and AKT activation in diffusely infiltrating astrocytomas, in order to determine their potential role in tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "PIK3CA", "start": 32, "end": 38}], "disease": [{"text": "aggressiveness", "start": 194, "end": 208}]}, "relations": {}}, "schema": []}
{"input": "Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.", "output": {"entities": {"gene": [{"text": "FBLN1", "start": 75, "end": 80}], "disease": [{"text": "prostate cancer", "start": 103, "end": 118}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "FBLN1", "start": 75, "end": 80}, "tail": {"text": "prostate cancer", "start": 103, "end": 118}}]}}, "schema": []}
{"input": "The lack of correlation between protein expression levels and 20q DNA copy number status implies that CSE1L, DIDO1 and RBM39 are merely passengers rather than drivers of chromosome 20q gain in colorectal adenoma-to-carcinoma progression.", "output": {"entities": {"gene": [{"text": "DIDO1", "start": 109, "end": 114}], "disease": [{"text": "carcinoma", "start": 215, "end": 224}]}, "relations": {}}, "schema": []}
{"input": "Fatty-acid binding protein 4 gene variants and childhood obesity: potential implications for insulin sensitivity and CRP levels.", "output": {"entities": {"gene": [{"text": "CRP", "start": 117, "end": 120}], "disease": [{"text": "insulin sensitivity", "start": 93, "end": 112}]}, "relations": {}}, "schema": []}
{"input": "In this study we investigated the activation of the AKT pathway and its downstream effectors, glycogen synthase kinase-3b and Forkhead box O (FOXO)-1 by progesterone as a mechanism of proliferation and survival of leiomyoma cells.", "output": {"entities": {"gene": [{"text": "AKT", "start": 52, "end": 55}], "disease": [{"text": "leiomyoma", "start": 214, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "Neither NaV1. 8 AS ODN nor NaV1. 9 AS ODN affects melittin-induced mechanical hypersensitivity.", "output": {"entities": {"gene": [{"text": "NaV1. 8", "start": 8, "end": 15}], "disease": [{"text": "hypersensitivity", "start": 78, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "Disruption of this gene was indicated in a patient with a t (8; 17) (p11; q25) and Ph-negative chronic myeloid leukemia in association with systemic malignant mast cell disease, a patient with acute myeloid leukemia with a t (8; 11) (p11; p15), and two cases with T-cell lymphoma, myeloproliferative disorder, and marrow eosinophilia with a t (8; 12) (p11; q15) and ins (12; 8) (p11; p11p21), respectively.", "output": {"entities": {"gene": [{"text": "p11", "start": 69, "end": 72}], "disease": [{"text": "eosinophilia", "start": 321, "end": 333}]}, "relations": {}}, "schema": []}
{"input": "Fusion of the EWS gene on chromosome 22 and the WT1 gene on chromosome 11, resulting from the chromosomal translocation t (11; 22) (p13; q12), was detected by reverse transcriptase polymerase chain reaction (RT-PCR) in both cases.", "output": {"entities": {"gene": [{"text": "EWS gene", "start": 14, "end": 22}], "disease": [{"text": "chromosomal translocation", "start": 94, "end": 119}]}, "relations": {}}, "schema": []}
{"input": "Mammalian homologues of Bv8, the prokineticins PK1 and PK2, and their G-protein coupled receptors prokineticin receptor 1 (PKR1) and prokineticin receptor 2 (PKR2) have been identified and linked to several biological effects as gut motility, neurogenesis, angiogenesis, circadian rhythms, hematopoiesis, and nociception.", "output": {"entities": {"gene": [{"text": "PKR1", "start": 123, "end": 127}], "disease": [{"text": "circadian rhythms", "start": 271, "end": 288}]}, "relations": {}}, "schema": []}
{"input": "SUP-induced increased paracellular permeability correlated with the severity of abdominal pain.", "output": {"entities": {"gene": [{"text": "SUP", "start": 0, "end": 3}], "disease": [{"text": "abdominal pain", "start": 80, "end": 94}]}, "relations": {}}, "schema": []}
{"input": "In this study, we investigated CD99 immunoreactivity using immunohistochemistry and Ewing' s sarcoma/Friend leukaemia virus integration 1 (EWS/FLI1) translocation using the fluorescence in situ hybridization (FISH) method in 23 cases.", "output": {"entities": {"gene": [{"text": "EWS", "start": 139, "end": 142}], "disease": [{"text": "translocation", "start": 149, "end": 162}]}, "relations": {}}, "schema": []}
{"input": "Lung ADCs lacking receptor tyrosine kinase-Ras-Raf pathway alterations had mutations in SOS1, VAV1, RASA1, and ARHGAP35.", "output": {"entities": {"gene": [{"text": "ARHGAP35", "start": 111, "end": 119}], "disease": [{"text": "ADC", "start": 5, "end": 8}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "ARHGAP35", "start": 111, "end": 119}, "tail": {"text": "ADC", "start": 5, "end": 8}}]}}, "schema": []}
{"input": "BAFF transgenic mice can be used in future studies to test compounds of therapeutic value for the treatment of mood disorders associated with autoimmune diseases.", "output": {"entities": {"gene": [{"text": "BAFF", "start": 0, "end": 4}], "disease": [{"text": "mood disorders", "start": 111, "end": 125}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "BAFF", "start": 0, "end": 4}, "tail": {"text": "mood disorders", "start": 111, "end": 125}}]}}, "schema": []}
{"input": "We examine the HIC1-SIRT1-p53 alterations in 118 lung cancer patients to define their etiological roles in tumorigenesis.", "output": {"entities": {"gene": [{"text": "HIC1", "start": 15, "end": 19}], "disease": [{"text": "tumorigenesis", "start": 107, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Associations of GSTM1-null variants with asthma (P = 0. 03), younger age of asthma symptom onset (P = 0. 03), and greater airflow obstruction (reduced forced expiratory volume in 1 s/forced vital capacity, P = 0. 01) were observed among the 50 children (10% of the cohort) with exposure to IUS.", "output": {"entities": {"gene": [{"text": "GSTM1", "start": 16, "end": 21}], "disease": [{"text": "vital capacity", "start": 190, "end": 204}]}, "relations": {}}, "schema": []}
{"input": "To observe the dynamic expression of GDNF and their receptors in the brain of rats after status epilepticus (SE).", "output": {"entities": {"gene": [{"text": "GDNF", "start": 37, "end": 41}], "disease": [{"text": "status epilepticus", "start": 89, "end": 107}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "GDNF", "start": 37, "end": 41}, "tail": {"text": "status epilepticus", "start": 89, "end": 107}}]}}, "schema": []}
{"input": "Taken together, these results provide preliminary evidence for the role of the PER2 gene in regulating striatal D2R availability in the human brain and in vulnerability for cocaine addiction.", "output": {"entities": {"gene": [{"text": "PER2", "start": 79, "end": 83}], "disease": [{"text": "cocaine addiction", "start": 173, "end": 190}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "PER2", "start": 79, "end": 83}, "tail": {"text": "cocaine addiction", "start": 173, "end": 190}}]}}, "schema": []}
{"input": "Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma.", "output": {"entities": {"gene": [{"text": "RB1", "start": 26, "end": 29}], "disease": [{"text": "retinoblastoma", "start": 71, "end": 85}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "RB1", "start": 26, "end": 29}, "tail": {"text": "retinoblastoma", "start": 71, "end": 85}}]}}, "schema": []}
{"input": "Phosphatase and tensin homologue deleted on chromosome 10 deficiency accelerates tumor induction in a mouse model of ErbB-2 mammary tumorigenesis.", "output": {"entities": {"gene": [{"text": "tensin", "start": 16, "end": 22}], "disease": [{"text": "mammary tumorigenesis", "start": 124, "end": 145}]}, "relations": {}}, "schema": []}
{"input": "A discriminant function of four miRNAs (miR-140-5p, miR-423-5p, miR-195, and miR-126) was specific for T2D with an accuracy of 89. 2% (P & lt; 0. 0001).", "output": {"entities": {"gene": [{"text": "miR-423", "start": 52, "end": 59}], "disease": [{"text": "T2D", "start": 103, "end": 106}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "miR-423", "start": 52, "end": 59}, "tail": {"text": "T2D", "start": 103, "end": 106}}]}}, "schema": []}
{"input": "We have trialled denaturing high-performance liquid chromatography (dHPLC) as a tool for rapid germline mutation scanning of genes implicated in three familial cancer syndromes--Cowden syndrome (PTEN mutation), multiple endocrine neoplasia type 2 (RET mutation) and von Hippel-Lindau disease (VHL mutation).", "output": {"entities": {"gene": [{"text": "PTEN", "start": 195, "end": 199}], "disease": [{"text": "Cowden syndrome", "start": 178, "end": 193}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "PTEN", "start": 195, "end": 199}, "tail": {"text": "Cowden syndrome", "start": 178, "end": 193}}]}}, "schema": []}
{"input": "These data demonstrate that Ras is able to promote monocyte lineage selection via PKC and show for the first time the involvement of the kinase master regulator, PDK1, in both lineage specification and in human leukemia.", "output": {"entities": {"gene": [{"text": "PDK1", "start": 162, "end": 166}], "disease": [{"text": "leukemia", "start": 211, "end": 219}]}, "relations": {}}, "schema": []}
{"input": "The 3 G/3 G genotype of the TYMS gene may indicate predisposition of poor response to MTX and GG genotype of GGH-354 T > G polymorphism may have high predictive value for myelosuppression in RA patients.", "output": {"entities": {"gene": [{"text": "MTX", "start": 86, "end": 89}], "disease": [{"text": "myelosuppression", "start": 171, "end": 187}]}, "relations": {}}, "schema": []}
{"input": "Conversely, duodenopancreatic reflux of proteolytically active enteropeptidase may cause acute and chronic pancreatitis.", "output": {"entities": {"gene": [{"text": "enteropeptidase", "start": 63, "end": 78}], "disease": [{"text": "reflux", "start": 30, "end": 36}]}, "relations": {}}, "schema": []}
{"input": "In this paper, we validated the hypothesis that HPGDS has a role in the etiology of muscular necrosis.", "output": {"entities": {"gene": [{"text": "HPGDS", "start": 48, "end": 53}], "disease": [{"text": "necrosis", "start": 93, "end": 101}]}, "relations": {}}, "schema": []}
{"input": "Elevated endogenous expression of the dominant negative basic helix-loop-helix protein ID1 correlates with significant centrosome abnormalities in human tumor cells.", "output": {"entities": {"gene": [{"text": "ID1", "start": 87, "end": 90}], "disease": [{"text": "abnormalities", "start": 130, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In our study, an adenovirus-mediated APE1 silencing strategy was introduced to test its therapeutic enhancement for the non-small cell lung cancer cell line A549 both in vitro and in vivo after hematoporphrphyrin derivative (HpD)-mediated PDT.", "output": {"entities": {"gene": [{"text": "APE1", "start": 37, "end": 41}], "disease": [{"text": "adenovirus", "start": 17, "end": 27}]}, "relations": {}}, "schema": []}
{"input": "In this study, we report a miR-203-SIK2 axis that involves in the regulation of Taxol sensitivity in colon cancer cells.", "output": {"entities": {"gene": [{"text": "SIK2", "start": 35, "end": 39}], "disease": [{"text": "colon cancer", "start": 101, "end": 113}]}, "relations": {}}, "schema": []}
{"input": "In situ, glioma cells expressed beta 1, the common beta chain of most integrin ECM receptors, while ECM components were restricted to vascular elements.", "output": {"entities": {"gene": [{"text": "common beta chain", "start": 44, "end": 61}], "disease": [{"text": "glioma", "start": 9, "end": 15}]}, "relations": {}}, "schema": []}
{"input": "We find that polycystin-1 is the rate-limiting component of this complex and that there is a dose-response relationship between cystic dilation and levels of functional polycystin-1 following mutation of Prkcsh or Sec63.", "output": {"entities": {"gene": [{"text": "Sec63", "start": 214, "end": 219}], "disease": [{"text": "dilation", "start": 135, "end": 143}]}, "relations": {}}, "schema": []}
{"input": "In this study, we tested the genetic association of DGKH, DFNB31 and SORCS2 with BD.", "output": {"entities": {"gene": [{"text": "SORCS2", "start": 69, "end": 75}], "disease": [{"text": "BD", "start": 81, "end": 83}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "SORCS2", "start": 69, "end": 75}, "tail": {"text": "BD", "start": 81, "end": 83}}]}}, "schema": []}
{"input": "Docetaxel and epirubicin supported by granulocyte colony-stimulating factor first-line in advanced breast cancer.", "output": {"entities": {"gene": [{"text": "granulocyte colony-stimulating factor", "start": 38, "end": 75}], "disease": [{"text": "breast cancer", "start": 99, "end": 112}]}, "relations": {"gene_disease_therapeutic": [{"head": {"text": "granulocyte colony-stimulating factor", "start": 38, "end": 75}, "tail": {"text": "breast cancer", "start": 99, "end": 112}}]}}, "schema": []}
{"input": "We mapped an additional 40 consanguineous families segregating nonsyndromic hearing loss to the DFNB39 locus and refined the obligate interval to 1. 2 Mb.", "output": {"entities": {"gene": [{"text": "DFNB39", "start": 96, "end": 102}], "disease": [{"text": "nonsyndromic hearing loss", "start": 63, "end": 88}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "DFNB39", "start": 96, "end": 102}, "tail": {"text": "nonsyndromic hearing loss", "start": 63, "end": 88}}]}}, "schema": []}
{"input": "This study investigated the regulation of several genes and proteins involved in the activation of key signaling pathways promoting muscle hypertrophy, including GH/STAT5, IGF-1/Akt/GSK-3beta/4E-BP1, and muscle atrophy, including TNFalpha/SOCS-3 and Akt/FKHR/atrogene, in muscle biopsies from 13 young (20 +/-0. 2 years) and 16 older (70 +/-0. 3 years) males.", "output": {"entities": {"gene": [{"text": "SOCS-3", "start": 239, "end": 245}], "disease": [{"text": "muscle hypertrophy", "start": 132, "end": 150}]}, "relations": {}}, "schema": []}
{"input": "Since EGFR signaling is implicated in renal fibrosis, targeting ADAM17 to reduce availability of EGFR ligand TGF-alpha may represent a promising way of intervention in human renal disease.", "output": {"entities": {"gene": [{"text": "ADAM17", "start": 64, "end": 70}], "disease": [{"text": "renal fibrosis", "start": 38, "end": 52}]}, "relations": {}}, "schema": []}
{"input": "FSH receptor gene polymorphisms in fertile and infertile Han-Chinese males.", "output": {"entities": {"gene": [{"text": "FSH receptor", "start": 0, "end": 12}], "disease": [{"text": "infertile", "start": 47, "end": 56}]}, "relations": {}}, "schema": []}
{"input": "To identify the autoantigen recognized by the autoantibody that is associated with clinically amyopathic dermatomyositis (C-ADM) and rapidly progressive interstitial lung disease (ILD).", "output": {"entities": {"gene": [{"text": "ADM", "start": 124, "end": 127}], "disease": [{"text": "amyopathic dermatomyositis", "start": 94, "end": 120}]}, "relations": {}}, "schema": []}
{"input": "Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.", "output": {"entities": {"gene": [{"text": "CCNH", "start": 16, "end": 20}], "disease": [{"text": "glioblastoma multiforme", "start": 157, "end": 180}]}, "relations": {"gene_disease_biomarker": [{"head": {"text": "CCNH", "start": 16, "end": 20}, "tail": {"text": "glioblastoma multiforme", "start": 157, "end": 180}}]}}, "schema": []}
{"input": "In this study, we found that CD44, a cell surface marker for cancer stem cells, interacts with pyruvate kinase M2 (PKM2) and thereby enhances the glycolytic phenotype of cancer cells that are either deficient in p53 or exposed to hypoxia.", "output": {"entities": {"gene": [{"text": "CD44", "start": 29, "end": 33}], "disease": [{"text": "hypoxia", "start": 230, "end": 237}]}, "relations": {}}, "schema": []}
{"input": "The functional significance of HO-1 so induced was uncovered in the HO-1 knockout mouse: Repeated administration of hemoglobin to HO-1 +/+ and HO-1-/-mice led to intense interstitial cellular inflammation in HO-1-/-mice accompanied by striking up-regulation of MCP-1 and activation of one of its stimulators, nuclear factor-kappaB (NF-kappaB).", "output": {"entities": {"gene": [{"text": "MCP-1", "start": 261, "end": 266}], "disease": [{"text": "hemoglobin", "start": 116, "end": 126}]}, "relations": {}}, "schema": []}
{"input": "The aim of this study was to study the effect of trichostatin A (TSA), a histone deacetylase (HDAC) inhibitor, on transforming growth factor (TGF)-β1-induced myofibroblast differentiation and ECM accumulation in nasal polyp-derived fibroblasts (NPDFs).", "output": {"entities": {"gene": [{"text": "TSA", "start": 65, "end": 68}], "disease": [{"text": "nasal polyp", "start": 212, "end": 223}]}, "relations": {}}, "schema": []}
{"input": "To gain insight into the molecular mechanisms underpinning CRC in Saudi Arabian patients, we profiled the DNA methylation frequency of key genes (MLH1, MSH2, RASSF1A, SLIT2, HIC1, MGMT, SFRP1, MYOD1, APC, CDKN2A, as well as five CIMP markers) in 120 sporadic CRC cases.", "output": {"entities": {"gene": [{"text": "MSH2", "start": 152, "end": 156}], "disease": [{"text": "sporadic", "start": 250, "end": 258}]}, "relations": {}}, "schema": []}
{"input": "These results suggest that p73 may play a role in hepatocellular carcinogenesis in a different manner from a Knudson two-hit model.", "output": {"entities": {"gene": [{"text": "p73", "start": 27, "end": 30}], "disease": [{"text": "hit", "start": 121, "end": 124}]}, "relations": {}}, "schema": []}
{"input": "The Leu518Pro mutated betaig-h3 forms amyloidogeneic intermediates which precipitate in the cornea and gives rise to a clinical appearance of LCDI.", "output": {"entities": {"gene": [{"text": "betaig-h3", "start": 22, "end": 31}], "disease": [{"text": "LCDI", "start": 142, "end": 146}]}, "relations": {"gene_disease_genomic_alterations": [{"head": {"text": "betaig-h3", "start": 22, "end": 31}, "tail": {"text": "LCDI", "start": 142, "end": 146}}]}}, "schema": []}
{"input": "The inhibition of apoptosis was associated with a decrease in expression of the proapoptotic molecules, BAK and BAX, and activation of the antiapoptotic phosphatidylinositol 3 kinase (PI3K) and AKT pathway, providing potential mechanisms for the effects of RAB25 on tumor aggressiveness.", "output": {"entities": {"gene": [{"text": "PI3K", "start": 184, "end": 188}], "disease": [{"text": "aggressiveness", "start": 272, "end": 286}]}, "relations": {}}, "schema": []}